Term IRI	Term label	Parent term IRI	Parent term label	Alternative term	Definition
http://purl.obolibrary.org/obo/IAO_8000006	subset ontology module	http://purl.obolibrary.org/obo/IAO_8000000	ontology module	subset ontology	An ontology module that is extracted from a main ontology module and includes only a subset of entities or axioms.
http://purl.obolibrary.org/obo/HP_0040296	Abnormal location of the eyebrow	http://purl.obolibrary.org/obo/HP_0000534	Abnormal eyebrow morphology		Anomalous anatomical placement of the eyebrow.
http://purl.obolibrary.org/obo/HP_0040315	Tongue edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		An abnormal accumulation of fluid and swelling in the tongue.
http://purl.obolibrary.org/obo/ENVO_01001057	environment associated with a plant part or small plant	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		An environmental system determined by part of a living or dead plant, or a whole small plant.
http://purl.obolibrary.org/obo/ENVO_01001041	fungi-associated environment	http://purl.obolibrary.org/obo/ENVO_2100000	anatomical entity environment		An environmental system determined by a fungal structure.
http://purl.obolibrary.org/obo/CHEBI_138103	inorganic acid	http://purl.obolibrary.org/obo/CHEBI_39141	Bronsted acid		A Brønsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water.
http://purl.obolibrary.org/obo/ENVO_01001192	sediment surface	http://purl.obolibrary.org/obo/ENVO_00010504	surface layer		The surface layer of a mass of sediment.
http://purl.obolibrary.org/obo/ECTO_0000002	exposure to electromagnetic radiation	http://purl.obolibrary.org/obo/ECTO_0000001	exposure to radiation		A exposure event involving the interaction of an exposure receptor to electromagnetic radiation.
http://purl.obolibrary.org/obo/ECTO_0000006	exposure to ultraviolet radiation	http://purl.obolibrary.org/obo/ECTO_0000002	exposure to electromagnetic radiation		A exposure event involving the interaction of an exposure receptor to ultraviolet radiation.
http://purl.obolibrary.org/obo/ECTO_0000007	exposure to visible light radiation	http://purl.obolibrary.org/obo/ECTO_0000002	exposure to electromagnetic radiation		A exposure event involving the interaction of an exposure receptor to visible spectrum radiation.
http://purl.obolibrary.org/obo/MONDO_0021098	papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm		Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.
http://purl.obolibrary.org/obo/MONDO_0021100	breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0021350	neoplasm of thorax		A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.
http://purl.obolibrary.org/obo/MONDO_0021101	appendix L-cell glucagon-like peptide-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade		A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.
http://purl.obolibrary.org/obo/MONDO_0021102	prostate phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm		An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.
http://purl.obolibrary.org/obo/MONDO_0021104	alcoholic fatty liver disease	http://purl.obolibrary.org/obo/MONDO_0004790	fatty liver disease		Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.
http://purl.obolibrary.org/obo/MONDO_0021107	narcolepsy	http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder		A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.
http://purl.obolibrary.org/obo/MONDO_0021108	meningitis	http://purl.obolibrary.org/obo/MONDO_0005156	encephalomyelitis		A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.
http://purl.obolibrary.org/obo/MONDO_0021111	ureter neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm		A benign or malignant neoplasm that affects the ureter.
http://purl.obolibrary.org/obo/MONDO_0021113	respiratory failure	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.
http://purl.obolibrary.org/obo/MONDO_0021118	intestinal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A benign or malignant neoplasm involving the small or large intestine.
http://purl.obolibrary.org/obo/MONDO_0021121	hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0021080	blood vessel neoplasm		A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.
http://purl.obolibrary.org/obo/MONDO_0021124	female infertility	http://purl.obolibrary.org/obo/MONDO_0005047	infertility disorder		Diminished or absent ability of a female to achieve conception.
http://purl.obolibrary.org/obo/MONDO_0021127	has a syndromic presentation	http://purl.obolibrary.org/obo/MONDO_0021126	syndromic or isolated		An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features.
http://purl.obolibrary.org/obo/MONDO_0021128	has an isolated presentation	http://purl.obolibrary.org/obo/MONDO_0021126	syndromic or isolated		An characteristic of a disease in which the disease is manifested as an isolated feature.
http://purl.obolibrary.org/obo/MONDO_0021129	microphthalmia	http://purl.obolibrary.org/obo/MONDO_0100581	ocular growth disorder		Congenital or developmental anomaly in which the eyeballs are abnormally small.
http://purl.obolibrary.org/obo/MONDO_0021136	rare	http://purl.obolibrary.org/obo/MONDO_0021135	rare or common		A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet.
http://purl.obolibrary.org/obo/MONDO_0021144	ovarian clear cell tumor	http://purl.obolibrary.org/obo/MONDO_0002229	ovarian epithelial tumor		A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.
http://purl.obolibrary.org/obo/MONDO_0021146	headache disorder	http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder		Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)
http://purl.obolibrary.org/obo/MONDO_0021148	female reproductive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0006054	reproductive system neoplasm		A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.
http://purl.obolibrary.org/obo/MONDO_0021152	inherited	http://purl.obolibrary.org/obo/MONDO_0021149	hereditary vs non-hereditary etiology		A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents.
http://purl.obolibrary.org/obo/MONDO_0021156	hypophysitis	http://purl.obolibrary.org/obo/MONDO_0005156	encephalomyelitis		Inflammation of the pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0021159	gonococcal salpingitis	http://purl.obolibrary.org/obo/MONDO_0004277	gonorrhea		An salpingitis caused by infection with Neisseria gonorrhoeae.
http://purl.obolibrary.org/obo/MONDO_0021160	gonococcal cystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		An cystitis caused by infection with Neisseria gonorrhoeae.
http://purl.obolibrary.org/obo/MONDO_0021161	gonococcal prostatitis	http://purl.obolibrary.org/obo/MONDO_0005280	prostatitis		An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.
http://purl.obolibrary.org/obo/MONDO_0021164	posthitis	http://purl.obolibrary.org/obo/MONDO_0002036	penile disorder		An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.
http://purl.obolibrary.org/obo/MONDO_0021166	inflammatory disease	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		A disease involving a pathogenic inflammatory response in the anatomical structure.
http://purl.obolibrary.org/obo/MONDO_0021167	myositis disease	http://purl.obolibrary.org/obo/MONDO_0005336	myopathy		An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.
http://purl.obolibrary.org/obo/MONDO_0021169	epithelioid hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma characterized by the presence of epithelioid endothelial cells.
http://purl.obolibrary.org/obo/MONDO_0021179	proteostasis deficiencies	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.
http://purl.obolibrary.org/obo/MONDO_0021181	inherited blood coagulation disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
http://purl.obolibrary.org/obo/MONDO_0021190	DNA repair disease	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A disease that has its basis in the disruption of DNA repair.
http://purl.obolibrary.org/obo/MONDO_0021140	congenital	http://purl.obolibrary.org/obo/MONDO_0021139	congenital or acquired		A characteristic of a disease in which the disease is present at birth, regardless of cause.
http://purl.obolibrary.org/obo/MONDO_0021142	acquired rippling muscle disease	http://purl.obolibrary.org/obo/MONDO_0016105	acquired skeletal muscle disease		The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.
http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.
http://purl.obolibrary.org/obo/MONDO_0021189	intestinal motility disease	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A disease that has its basis in the disruption of intestinal motility.
http://purl.obolibrary.org/obo/MONDO_0021193	neuroepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021248	nervous system neoplasm		A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.
http://purl.obolibrary.org/obo/HP_0031654	Abnormal pulmonary valve physiology	http://purl.obolibrary.org/obo/HP_0031653	Abnormal heart valve physiology		Any functional anomaly of the pumonary valve.
http://purl.obolibrary.org/obo/HP_0031703	Abnormal ear morphology	http://purl.obolibrary.org/obo/HP_0000598	Abnormality of the ear		Any structural anomaly of the ear.
http://purl.obolibrary.org/obo/HP_0031704	Abnormal ear physiology	http://purl.obolibrary.org/obo/HP_0000598	Abnormality of the ear		Any functional anomaly of the ear.
http://purl.obolibrary.org/obo/MONDO_0024263	neonatal aspiration syndrome	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.
http://purl.obolibrary.org/obo/MONDO_0021722	vulvodynia	http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder		Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.
http://purl.obolibrary.org/obo/MONDO_0022316	hair defect with photosensitivity and intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.
http://purl.obolibrary.org/obo/MONDO_0022430	persistent fetal circulation syndrome	http://purl.obolibrary.org/obo/MONDO_0024239	congenital anomaly of cardiovascular system		A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.
http://purl.obolibrary.org/obo/MONDO_0022772	classic Kaposi sarcoma	http://purl.obolibrary.org/obo/MONDO_0005055	Kaposi's sarcoma		A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.
http://purl.obolibrary.org/obo/MONDO_0023726	mediastinal yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0006298	mediastinal malignant germ cell tumor		An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.
http://purl.obolibrary.org/obo/MONDO_0024239	congenital anomaly of cardiovascular system	http://purl.obolibrary.org/obo/MONDO_0004995	cardiovascular disorder		A disease that has its basis in the disruption of cardiovascular system development.
http://purl.obolibrary.org/obo/MONDO_0024251	Minamata disease	http://purl.obolibrary.org/obo/MONDO_0005527	toxic encephalopathy		A neurological syndrome caused by severe mercury poisoning.
http://purl.obolibrary.org/obo/MONDO_0024264	hypothyroidism, congenital, nongoitrous, 2	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.
http://purl.obolibrary.org/obo/MONDO_0024266	patent ductus arteriosus 3	http://purl.obolibrary.org/obo/MONDO_0011827	patent ductus arteriosus		Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.
http://purl.obolibrary.org/obo/MONDO_0024609	vulvar squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005215	vulvar carcinoma		An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)
http://purl.obolibrary.org/obo/MONDO_0024608	dientamoebiasis	http://purl.obolibrary.org/obo/MONDO_0024270	parasitic intestinal disorder		Gastrointestinal infection with organisms of the genus dientamoeba.
http://purl.obolibrary.org/obo/MONDO_0024493	tumor grade 3, general grading system	http://purl.obolibrary.org/obo/MONDO_0024496	tumor grade 2 or 3, general grading system		A morphologic qualifier indicating that a cancerous lesion is poorly differentiated.
http://purl.obolibrary.org/obo/MONDO_0024500	duodenal neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0018510	small intestine neuroendocrine neoplasm		A neuroendocrine neoplasm that involves the duodenum.
http://purl.obolibrary.org/obo/CHEBI_141668	L-tyrosinal(1+)	http://purl.obolibrary.org/obo/CHEBI_65296	primary ammonium ion		A primary ammonium ion resulting from the protonation of the amino group of <small>L</small>-tyrosinal.
http://purl.obolibrary.org/obo/MONDO_0020664	spindle cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0020601	mosquito-borne viral encephalitis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Viral encephalitis that is transmitted by mosquitos.
http://purl.obolibrary.org/obo/MONDO_0020675	ischemic bowel disorder	http://purl.obolibrary.org/obo/MONDO_0005053	ischemic disease		Disease of the large or small intestine that is caused by inadequate blood supply.
http://purl.obolibrary.org/obo/MONDO_0020678	sensorineural hearing loss disorder	http://purl.obolibrary.org/obo/MONDO_0005365	hearing loss disorder		Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
http://purl.obolibrary.org/obo/MONDO_0100070	neuroendocrine disorder	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.
http://purl.obolibrary.org/obo/MONDO_0020706	Heberden's node	http://purl.obolibrary.org/obo/MONDO_0002181	exostosis		Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.
http://purl.obolibrary.org/obo/MONDO_0020708	brachial amyotrophic diplegia	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.
http://purl.obolibrary.org/obo/MONDO_0020709	Majocchi granuloma	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.
http://purl.obolibrary.org/obo/MAXO_0000572	hypoglycemic drug therapy	http://purl.obolibrary.org/obo/MAXO_0000257	antidiabetic agent therapy		Use of a drug that lower the level of glucose in the blood.
http://purl.obolibrary.org/obo/MAXO_0000626	intravenous anesthetic therapy	http://purl.obolibrary.org/obo/MAXO_0001020	general anesthetic agent therapy		A therapy utilizing an intravenous substance that produces loss of consciousness.
http://purl.obolibrary.org/obo/MAXO_0000634	anti-asthmatic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000312	respiratory tract agent therapy		Usage of a drug to treat asthma.
http://purl.obolibrary.org/obo/MAXO_0000636	antidyskinesia agent therapy	http://purl.obolibrary.org/obo/MAXO_0000260	central nervous system agent therapy		Use of a compound which can be used to treat or alleviate the symptoms of dyskinesia.
http://purl.obolibrary.org/obo/MAXO_0000640	corticosteroid agent therapy	http://purl.obolibrary.org/obo/MAXO_0001575	steroid agent therapy		Use of a natural or synthetic analog of the hormones secreted by the adrenal gland as a type of anti-inflammatory treatment.
http://purl.obolibrary.org/obo/MAXO_0000642	emetic therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Treatment to induce vomiting and nausea usually administered in emergency situations after ingestion of a toxin.
http://purl.obolibrary.org/obo/MAXO_0000643	antirheumatic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000169	anti-inflammatory agent therapy		Treatment with a drug to alleviate rheumatoid arthritis and its symptoms.
http://purl.obolibrary.org/obo/MAXO_0000644	molecular pathway modifying agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Treatment with an agent that modifies a particular molecular pathway.
http://purl.obolibrary.org/obo/MAXO_0000648	enzyme inhibitor agent therapy	http://purl.obolibrary.org/obo/MAXO_0000644	molecular pathway modifying agent therapy		A therapy using a compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.
http://purl.obolibrary.org/obo/MAXO_0000658	NMDA receptor modulator agent therapy	http://purl.obolibrary.org/obo/MAXO_0000211	glutamatergic pathway modifying agent therapy		Use of a drug that modulates the action of N-methyl-D-aspartate (NMDA) receptors.
http://purl.obolibrary.org/obo/MAXO_0000664	antidiarrheal agent therapy	http://purl.obolibrary.org/obo/MAXO_0000267	gastrointestinal agent therapy		Treatment with an agent that is used to prevent or inhibit diarrhea.
http://purl.obolibrary.org/obo/MONDO_0020794	colorectal medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0005008	colorectal adenocarcinoma		A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.
http://purl.obolibrary.org/obo/MONDO_0031037	famililal cerebral cavernous malformations	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
http://purl.obolibrary.org/obo/MONDO_0100339	Friedreich ataxia	http://purl.obolibrary.org/obo/MONDO_0020046	autosomal recessive degenerative and progressive cerebellar ataxia		An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.
http://purl.obolibrary.org/obo/ENVO_01001884	surface landform	http://purl.obolibrary.org/obo/ENVO_01001886	landform		A landform which occurs on the surface of an astronomical body.
http://purl.obolibrary.org/obo/ENVO_01003001	water-holding capacity	http://purl.obolibrary.org/obo/BFO_0000016	disposition		A disposition of a material entity which is realised when it is saturated with liquid water.
http://purl.obolibrary.org/obo/ENVO_03000147	thickness of snow	http://purl.obolibrary.org/obo/PATO_0000915	thickness		The thickness of some snow.
http://purl.obolibrary.org/obo/ENVO_09000022	concentration of clay in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of a clay when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09000023	concentration of slit in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of a slit when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09000024	concentration of sand in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of a sand when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09000027	concentration of salt in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of a salt when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09200032	duration of stellar radiation	http://purl.obolibrary.org/obo/ENVO_09200002	environmental system process quality		The duration of some stellar radiation.
http://purl.obolibrary.org/obo/ENVO_09200033	pressure of atmospheric water vapour	http://purl.obolibrary.org/obo/PATO_0001025	pressure		The pressure of some atmospheric water vapour.
http://purl.obolibrary.org/obo/ENVO_09200034	porosity of snow	http://purl.obolibrary.org/obo/PATO_0000973	porosity		The porosity of some snow.
http://purl.obolibrary.org/obo/ENVO_09200035	porosity of water ice	http://purl.obolibrary.org/obo/PATO_0000973	porosity		The porosity of some water ice.
http://purl.obolibrary.org/obo/ENVO_09200036	mass density of snow	http://purl.obolibrary.org/obo/PATO_0001019	mass density		The mass density of some snow.
http://purl.obolibrary.org/obo/ENVO_3100038	concentration of phosphate in sea water	http://purl.obolibrary.org/obo/ENVO_3100026	concentration of phosphate in liquid water		The concentration of phosphate when measured in sea water.
http://purl.obolibrary.org/obo/ENVO_3100040	concentration of ammonium in sea water	http://purl.obolibrary.org/obo/ENVO_3100004	concentration of ammonium in liquid water		The concentration of ammonium when measured in sea water.
http://purl.obolibrary.org/obo/ENVO_3100043	concentration of carbon atom in sea water	http://purl.obolibrary.org/obo/ENVO_09000009	concentration of carbon atom in water		The concentration of carbon atom when measured in sea water.
http://purl.obolibrary.org/obo/ENVO_3100060	concentration of dioxygen in sea water	http://purl.obolibrary.org/obo/ENVO_3100011	concentration of dioxygen in liquid water		The concentration of dioxygen when measured in sea water.
http://purl.obolibrary.org/obo/ENVO_3200060	concentration of oxygen in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of oxygen when measured in soil.
http://purl.obolibrary.org/obo/ENVO_3200061	concentration of manganese molecular entity in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of manganese molecular entity when measured in soil.
http://purl.obolibrary.org/obo/ENVO_3200062	concentration of iron molecular entity in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of iron molecular entity when measured in soil.
http://purl.obolibrary.org/obo/ENVO_3200065	concentration of sodium molecular entity in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of sodium molecular entity when measured in soil.
http://purl.obolibrary.org/obo/ENVO_3200067	concentration of organophosphorus compound in soil	http://purl.obolibrary.org/obo/ENVO_3200071	concentration of organic molecular entity in soil		The concentration of organophosphorus compound when measured in soil.
http://purl.obolibrary.org/obo/ENVO_3200068	concentration of phosphorus molecular entity in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of phosphorus molecular entity when measured in soil.
http://purl.obolibrary.org/obo/ENVO_3200069	concentration of potassium molecular entity in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of potassium molecular entity when measured in soil.
http://purl.obolibrary.org/obo/ENVO_3200071	concentration of organic molecular entity in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of organic molecular entity when measured in soil.
http://purl.obolibrary.org/obo/ENVO_3200073	concentration of sulfate in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of sulfate when measured in soil.
http://purl.obolibrary.org/obo/MONDO_0100313	focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0700328	podocytopathy		A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.
http://purl.obolibrary.org/obo/MONDO_1010195	myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Myopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700238	BEST1-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a heterozygous variant in the BEST1 gene.
http://purl.obolibrary.org/obo/MONDO_0800461	COL4A1-related disorder	http://purl.obolibrary.org/obo/MONDO_1010150	COL4A1/A2-related disorder		The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).
http://purl.obolibrary.org/obo/MONDO_0800464	SQSTM1-related multisystem proteinopathy	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.
http://purl.obolibrary.org/obo/MONDO_0800465	CTSC-related disorder	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_0800466	disorder of GNAS inactivation	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).
http://purl.obolibrary.org/obo/MONDO_0800468	SCN4A-related channelopathy	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.
http://purl.obolibrary.org/obo/MONDO_0800483	SF3B4-related acrofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.
http://purl.obolibrary.org/obo/MONDO_1040009	TRIP11-related skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Any skeletal dysplasia in which the cause of the disease is a variation in the TRIP11 gene. Reduced protein function in TRIP11 causes a spectrum of skeletal symptoms from a more mild phenotype, called ondontochondrodysplasia, with features including short stature and joint laxity to a more severe phenotype, called achondrogenesis type 1A, which presents as a lethal prenatal or neonatal skeletal dysplasia. The clinical severity of achondrogenesis compared to ondontochondrodysplasia is related to the residual function of the gene which is not currently possible to anticipate based on genotype alone. The phenotype cannot fully be predicted by genotype alone, evidenced by variants being reported with both phenotypes.
http://purl.obolibrary.org/obo/MONDO_1040012	PI4KA-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any human disease in which the cause of the disease is a variation in the PI4KA gene. This disease is characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.
http://purl.obolibrary.org/obo/MONDO_1040031	dyneinopathy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes.
http://purl.obolibrary.org/obo/MONDO_1040024	myelin oligodendrocyte glycoprotein antibody-associated disease	http://purl.obolibrary.org/obo/MONDO_0020800	demyelinating disease of central nervous system		A demyelinating disease of the central nervous system characterized by the presence of a demyelinating event (optic neuritis, myelitis, acute/multiphasic encephalomyelitis, cerebral or polyfocal deficits, brainstem or cerebellar deficits, and/or cerebral cortical encephalitis), a positive myelin oligodendrocyte glycorotein-IgG test, and exclusion of an alternative diagnosis like MS.
http://purl.obolibrary.org/obo/MONDO_1040032	EN1-related dorsoventral syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A human mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.
http://purl.obolibrary.org/obo/MONDO_0100572	MTOR-related overgrowth spectrum	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any overgrowth syndrome in which the cause of the disease is a pathogenic gain-of-function variants in the MTOR gene. The variants can be germline or somatic.
http://purl.obolibrary.org/obo/MONDO_1010792	anhidrotic ectodermal dysplasia EDAR-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		An inherited syndrome characterized by hypotrichosis (sparseness of hair), hypo- or an-hidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth) in cattle due to a variation in the EDAR gene.
http://purl.obolibrary.org/obo/MONDO_1010837	copper toxicosis, COMMD1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Excess accumulation of copper in the liver with a centrilobular distribution in dogs due to a variation in the COMMD1 gene.
http://purl.obolibrary.org/obo/MONDO_1010932	congenital myasthenic syndrome, COLQ-related, dog	http://purl.obolibrary.org/obo/MONDO_1011851	congenital neuromuscular disease, non-human animal		An early onset syndrome of impaired neuromuscular transmission associated with an acetylcholinesterase deficiency in dogs due to a variation in the COLQ gene.
http://purl.obolibrary.org/obo/MONDO_1012235	renal disease, dog	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Kidney disorder that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012570	cancer, dog	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Cancer that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012571	cancer, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Cancer that occurs in domestic cats.
http://purl.obolibrary.org/obo/MONDO_1012572	cancer, pig	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Cancer that occurs in pigs.
http://purl.obolibrary.org/obo/MONDO_0800498	childhood-onset genetic generalized epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100575	genetic generalized epilepsy		A genetic generalized epilepsy that has an onset during childhood.
http://purl.obolibrary.org/obo/MONDO_0800500	childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0020072	childhood-onset epilepsy syndrome		A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition.
http://purl.obolibrary.org/obo/HP_0020300	Abnormal elbow morphology	http://purl.obolibrary.org/obo/HP_0009811	Abnormality of the elbow		A structural anomaly of the joint that connects the upper and the lower arm.
http://purl.obolibrary.org/obo/HP_0020301	Abnormal elbow physiology	http://purl.obolibrary.org/obo/HP_0009811	Abnormality of the elbow		A functional anomaly of the joint that connects the upper and the lower arm.
http://purl.obolibrary.org/obo/MONDO_0100633	toxic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0001824	polyneuropathy		Polyneuropathy that is caused by exposure to toxins.
http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component	http://purl.obolibrary.org/obo/MONDO_0700096	human disease		A grouping class for human diseases classified by the body system or anatomical component primarily affected.
http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process	http://purl.obolibrary.org/obo/MONDO_0700096	human disease		A grouping class for human diseases classified by the molecular, biochemical, cellular, anatomic, developmental or physiological process that is disrupted.
http://purl.obolibrary.org/obo/MONDO_7770009	disease of genetic or genomic mechanism	http://purl.obolibrary.org/obo/MONDO_7770008	disease by etiologic mechanism		A grouping class for human diseases caused by genetic or genomic alterations, including chromosomal abnormalities and heritable mutations.
http://purl.obolibrary.org/obo/MONDO_7770008	disease by etiologic mechanism	http://purl.obolibrary.org/obo/MONDO_0700096	human disease		A grouping class for human diseases classified by their etiologic mechanism, encompassing primarily intrinsic (genetic, genomic), primarily extrinsic (e.g., infections, toxins, radiation), and complex multifactorial (e.g. nutritional) causes.
http://purl.obolibrary.org/obo/MONDO_7770011	disease by molecular mechanism	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		A grouping class for human diseases classified by their underlying molecular or pathophysiological mechanism, such as protein aggregation, ion channel dysfunction, or signal transduction disruption.
http://purl.obolibrary.org/obo/MONDO_7770010	disease of primarily extrinsic mechanism	http://purl.obolibrary.org/obo/MONDO_7770008	disease by etiologic mechanism		A grouping class for human diseases caused primarily by extrinsic factors, including infections, toxins, nutritional deficiencies, iatrogenic causes, and environmental exposures.
http://purl.obolibrary.org/obo/MONDO_1010193	TNNT2-related cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A genetically heterogeneous cardiac disorder caused by pathogenic variants in the TNNT2 gene and inherited in an autosomal dominant manner. Affected individuals present with a spectrum of cardiomyopathy phenotypes, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). Clinical features may include heart failure, ventricular arrhythmias, and sudden cardiac death. Overlapping or mixed cardiomyopathy phenotypes, as well as variable expressivity within families, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0700321	CACNA1C-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any human disease (syndromic or non syndromic) in which the cause of the disease is a variation in the CACNA1C gene.
http://purl.obolibrary.org/obo/MONDO_0700325	Parkes Weber syndrome	http://purl.obolibrary.org/obo/MONDO_0024287	congenital vascular malformation		A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.
http://purl.obolibrary.org/obo/MONDO_1060212	CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy.
http://purl.obolibrary.org/obo/MONDO_1060211	NR5A1-related sex development disorder	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female.
http://purl.obolibrary.org/obo/MONDO_0700324	SMAD6-related disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A human disease in which the cause of the disease is a variation in the SMAD6 gene, and characterized by craniosynostosis with congenital heart disease and/or radioulnar synostosis.
http://purl.obolibrary.org/obo/MONDO_1060214	SYCE1-related gametogenic failure	http://purl.obolibrary.org/obo/MONDO_0005047	infertility disorder		An infertility disorder caused by variation in the SYCE1 gene. Affected males may present with non-obstructive azoospermia due to maturation arrest or meiotic failure, while affected females may present with primary ovarian insufficiency.
http://purl.obolibrary.org/obo/MONDO_1010194	KY-related neuromyopathy	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		Any neuromyopathy in which the cause of the disease is mutation in the KY gene.
http://purl.obolibrary.org/obo/MONDO_1010200	oocyte/zygote/embryo maturation arrest 16	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		Any inherited oocyte maturation defect marked by early embryonic arrest and female infertility due to a varition in the PADI6 gene.
http://purl.obolibrary.org/obo/MONDO_0100635	radiation-induced neuropathy	http://purl.obolibrary.org/obo/MONDO_0043459	radiation-induced disorder		A peripheral neuropathy caused by exposure to radiation, resulting in damage to one or more peripheral nerves.
http://purl.obolibrary.org/obo/MONDO_0100634	traumatic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A peripheral neuropathy resulting from a traumatic event.
http://purl.obolibrary.org/obo/MONDO_0100636	corticosteroid myopathy	http://purl.obolibrary.org/obo/MONDO_0100637	drug-induced myopathy		A drug-induced myopathy caused by exposure to corticosteroids.
http://purl.obolibrary.org/obo/MONDO_0100637	drug-induced myopathy	http://purl.obolibrary.org/obo/MONDO_0005336	myopathy		A myopathy caused by exposure to a drug.
http://purl.obolibrary.org/obo/MONDO_0100638	endocrine myopathy	http://purl.obolibrary.org/obo/MONDO_0020123	metabolic myopathy		A metabolic myopathy associated with an endocrine disorder.
http://purl.obolibrary.org/obo/MONDO_0100639	vasculitic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A peripheral neuropathy that arises as a consequence of vasculitis, characterized by nerve damage resulting from inflammation of blood vessels.
http://purl.obolibrary.org/obo/MONDO_0100640	chronic idiopathic neuropathy	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Chronic and idiopathic form of peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0100641	chemotherapy-induced neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A peripheral neuropathy that arises as a consequence of exposure to chemotherapy.
http://purl.obolibrary.org/obo/MONDO_0100642	infectious neuropathy	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		A peripheral neuropathy caused by infection.
http://purl.obolibrary.org/obo/MONDO_0100643	vitamin deficiency related neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A peripheral neuropathy that arises as a consequence of a vitamin deficiency.
http://purl.obolibrary.org/obo/MONDO_0100644	paraproteinemia-associated neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A peripheral neuropathy that arises as a consequence of paraproteinemia.
http://purl.obolibrary.org/obo/MONDO_0100645	neuropathy in cryoglobulinemia	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A peripheral neuropathy that arises as a consequence of cryoglobulinemia.
http://purl.obolibrary.org/obo/MONDO_0100646	neuropathy in endocrine disorder	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A peripheral neuropathy that arises as a consequence of an endocrine disorder.
http://purl.obolibrary.org/obo/MONDO_0100647	sarcoid neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A peripheral neuropathy occurring in the context of sarcoidosis.
http://purl.obolibrary.org/obo/MONDO_0700322	tinnitus	http://purl.obolibrary.org/obo/MONDO_0021945	hearing disorder		A central nervous system dysperception disorder characterized by the perception of a sound not justified by any internal or external vibration, lasting at least 5 minutes and occurring more than once a week, arising from maladaptive neuroplasticity secondary to an organic cochlear peripheral lesion, and classifiable as positive auditory hallucinosis in the absence of delusional attitudes or behaviors.
http://purl.obolibrary.org/obo/MONDO_0700323	systemic lupus erythematosus related to C4A	http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus		Any systemic lupus erythematosus in which the cause of the disease is a variation in the C4A gene.
http://purl.obolibrary.org/obo/MONDO_0975708	dialysis disequilibrium syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma.
http://purl.obolibrary.org/obo/MONDO_0976294	ragopathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome caused by a variation in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates.
http://purl.obolibrary.org/obo/MONDO_0976301	cardiovascular-kidney-metabolic syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity.
http://purl.obolibrary.org/obo/MONDO_0979885	acute calcific periarthritis	http://purl.obolibrary.org/obo/MONDO_0006898	periarthritis		A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation.
http://purl.obolibrary.org/obo/MONDO_0980735	left ventricular failure	http://purl.obolibrary.org/obo/MONDO_0005009	congestive heart failure		A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.
http://purl.obolibrary.org/obo/MONDO_0980737	arterionephrosclerosis	http://purl.obolibrary.org/obo/MONDO_0005300	chronic kidney disease		A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss.
http://purl.obolibrary.org/obo/MONDO_0980739	muscle dysmorphic disorder	http://purl.obolibrary.org/obo/MONDO_0000690	body dysmorphic disorder		A body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build.
http://purl.obolibrary.org/obo/MONDO_0980767	lipofibromatosis	http://purl.obolibrary.org/obo/MONDO_0000654	benign connective and soft tissue neoplasm		A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally.
http://purl.obolibrary.org/obo/MONDO_0980992	Meier-Gorlin syndrome 9	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GINS3 gene.
http://purl.obolibrary.org/obo/MONDO_1010204	GPR161-related medulloblastoma predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A predisposition to medulloblastoma, a tumor that originates in the cerebellum and dorsal brainstem, has a peak incidence in childhood, and makes up a large proportion of embryonal brain tumors due to a variation in the GPR161 gene.
http://purl.obolibrary.org/obo/MONDO_1060213	reticular pseudodrusen	http://purl.obolibrary.org/obo/MONDO_0006949	retinal drusen		A retinal drusen characterized by subretinal deposits located internal to the retinal pigment epithelium, composed of material aggregations in the subretinal space between photoreceptors and the retinal pigment epithelium. These deposits have a bluish-white appearance by biomicroscopy and appear as hyperreflective lesions above the retinal pigment epithelium on optical coherence tomography.
http://purl.obolibrary.org/obo/MONDO_1060215	preneoplastic lesion	http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition		A precancerous condition characterized by accumulation of some molecular alterations necessary for malignant transformation in a clonal proliferation of cells, representing an intermediate stage in carcinogenesis with increased risk of progression to invasive neoplasia.
http://purl.obolibrary.org/obo/CHEBI_15841	polypeptide	http://purl.obolibrary.org/obo/CHEBI_33839	macromolecule		A peptide containing ten or more amino acid residues.
http://purl.obolibrary.org/obo/CHEBI_23849	diterpenoid	http://purl.obolibrary.org/obo/CHEBI_26873	terpenoid		Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).
http://purl.obolibrary.org/obo/CHEBI_24129	furans	http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle		Compounds containing at least one furan ring.
http://purl.obolibrary.org/obo/CHEBI_25000	lactone	http://purl.obolibrary.org/obo/CHEBI_35701	ester		Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring.
http://purl.obolibrary.org/obo/CHEBI_25512	neurotransmitter	http://purl.obolibrary.org/obo/CHEBI_33280	molecular messenger		An endogenous compound that is used to transmit information across the synapse between a neuron and another cell.
http://purl.obolibrary.org/obo/CHEBI_25698	ether	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		An organooxygen compound with formula ROR, where R is not hydrogen.
http://purl.obolibrary.org/obo/CHEBI_26191	polyol	http://purl.obolibrary.org/obo/CHEBI_33822	organic hydroxy compound		A compound that contains two or more hydroxy groups.
http://purl.obolibrary.org/obo/CHEBI_27024	toluenes	http://purl.obolibrary.org/obo/CHEBI_22712	benzenes		Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group.
http://purl.obolibrary.org/obo/CHEBI_27933	beta-lactam antibiotic	http://purl.obolibrary.org/obo/CHEBI_25558	organonitrogen heterocyclic antibiotic		An organonitrogen heterocyclic antibiotic that contains a β-lactam ring.
http://purl.obolibrary.org/obo/CHEBI_32952	amine	http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound		A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.
http://purl.obolibrary.org/obo/CHEBI_33261	organosulfur compound	http://purl.obolibrary.org/obo/CHEBI_26835	sulfur molecular entity		An organosulfur compound is a compound containing at least one carbon-sulfur bond.
http://purl.obolibrary.org/obo/CHEBI_33822	organic hydroxy compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		An organic compound having at least one hydroxy group attached to a carbon atom.
http://purl.obolibrary.org/obo/CHEBI_35338	amphetamines	http://purl.obolibrary.org/obo/CHEBI_32952	amine		Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine.
http://purl.obolibrary.org/obo/CHEBI_35341	steroid	http://purl.obolibrary.org/obo/CHEBI_51958	organic polycyclic compound		Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[<em>a</em>]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene.
http://purl.obolibrary.org/obo/CHEBI_35469	antidepressant	http://purl.obolibrary.org/obo/CHEBI_35471	psychotropic drug		Antidepressants are mood-stimulating drugs used primarily in the treatment of affective disorders and related conditions.
http://purl.obolibrary.org/obo/CHEBI_35627	beta-lactam	http://purl.obolibrary.org/obo/CHEBI_24995	lactam		A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon.
http://purl.obolibrary.org/obo/CHEBI_36054	benzoate ester	http://purl.obolibrary.org/obo/CHEBI_33308	carboxylic ester		Esters of benzoic acid or substituted benzoic acids.
http://purl.obolibrary.org/obo/CHEBI_38032	carbotricyclic compound	http://purl.obolibrary.org/obo/CHEBI_51959	organic tricyclic compound		A carbopolyclic compound comprising of three carbocyclic rings.
http://purl.obolibrary.org/obo/CHEBI_38101	organonitrogen heterocyclic compound	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms.
http://purl.obolibrary.org/obo/CHEBI_50268	GABA modulator	http://purl.obolibrary.org/obo/CHEBI_51374	GABA agent		A substance that does not act as agonist or antagonist but does affect the gamma-aminobutyric acid receptor-ionophore complex. GABA-A receptors appear to have at least three allosteric sites at which modulators act: a site at which benzodiazepines act by increasing the opening frequency of gamma-aminobutyric acid-activated chloride channels; a site at which barbiturates act to prolong the duration of channel opening; and a site at which some steroids may act.
http://purl.obolibrary.org/obo/CHEBI_50902	genotoxin	http://purl.obolibrary.org/obo/CHEBI_52209	aetiopathogenetic role		A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells.
http://purl.obolibrary.org/obo/CHEBI_50904	allergen	http://purl.obolibrary.org/obo/CHEBI_52209	aetiopathogenetic role		A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy.
http://purl.obolibrary.org/obo/CHEBI_55324	gastrointestinal drug	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A drug used for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion.
http://purl.obolibrary.org/obo/CHEBI_5686	heterocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		A cyclic compound having as ring members atoms of at least two different elements.
http://purl.obolibrary.org/obo/CHEBI_59163	biomarker	http://purl.obolibrary.org/obo/CHEBI_47867	indicator		A substance used as an indicator  of a biological state.
http://purl.obolibrary.org/obo/CHEBI_67079	anti-inflammatory agent	http://purl.obolibrary.org/obo/CHEBI_33232	application		Any compound that has anti-inflammatory effects.
http://purl.obolibrary.org/obo/CHEBI_76967	human xenobiotic metabolite	http://purl.obolibrary.org/obo/CHEBI_77746	human metabolite		Any human metabolite produced by metabolism of a xenobiotic compound in humans.
http://purl.obolibrary.org/obo/CHEBI_83056	Daphnia magna metabolite	http://purl.obolibrary.org/obo/CHEBI_83057	Daphnia metabolite		A <em>Daphnia</em> metabolite produced by the species <em>Daphnia magna</em>.
http://purl.obolibrary.org/obo/CHEBI_24527	herbicide	http://purl.obolibrary.org/obo/CHEBI_25944	pesticide		A substance used to destroy plant pests.
http://purl.obolibrary.org/obo/CHEBI_28965	dicarboxylic acid dianion	http://purl.obolibrary.org/obo/CHEBI_38716	carboxylic acid dianion		A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid.
http://purl.obolibrary.org/obo/CHEBI_32876	tertiary amine	http://purl.obolibrary.org/obo/CHEBI_50996	tertiary amino compound		A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups.
http://purl.obolibrary.org/obo/CHEBI_47868	photosensitizing agent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells.
http://purl.obolibrary.org/obo/CHEBI_51039	dopamine uptake inhibitor	http://purl.obolibrary.org/obo/CHEBI_48560	dopaminergic agent		A dopaminergic agent that blocks the transport of dopamine into axon terminals or into storage vesicles within terminals. Most of the adrenergic uptake inhibitors also inhibit dopamine uptake.
http://purl.obolibrary.org/obo/CHEBI_64049	food acidity regulator	http://purl.obolibrary.org/obo/CHEBI_64047	food additive		A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents.
http://purl.obolibrary.org/obo/CHEBI_74783	astringent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions.
http://purl.obolibrary.org/obo/CHEBI_77307	cardioprotective agent	http://purl.obolibrary.org/obo/CHEBI_50267	protective agent		Any protective agent that is able to prevent damage to the heart.
http://purl.obolibrary.org/obo/CHEBI_131530	pyridoxal(1+)	http://purl.obolibrary.org/obo/CHEBI_27306	vitamin B6		A pyridinium ion obtained by protonation of the ring nitrogen of pyridoxal.
http://purl.obolibrary.org/obo/CHEBI_131565	steroid aldehyde	http://purl.obolibrary.org/obo/CHEBI_17478	aldehyde		Any steroid substituted by a formyl group.
http://purl.obolibrary.org/obo/CHEBI_131619	C27-steroid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		A steroid compound with a structure based on a 27-carbon (cholestane) skeleton.
http://purl.obolibrary.org/obo/CHEBI_131699	EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_38234	DNA polymerase inhibitor		A DNA polymerase inhibitor that interferes with the action of a DNA-directed DNA polymerase (EC 2.7.7.7).
http://purl.obolibrary.org/obo/CHEBI_131927	dicarboxylic acids and O-substituted derivatives	http://purl.obolibrary.org/obo/CHEBI_36586	carbonyl compound		A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens.
http://purl.obolibrary.org/obo/CHEBI_132153	hyaluronate	http://purl.obolibrary.org/obo/CHEBI_63551	carbohydrate acid derivative anion		A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_132233	1-phenylpropan-2-amine	http://purl.obolibrary.org/obo/CHEBI_32877	primary amine		A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group.
http://purl.obolibrary.org/obo/CHEBI_13643	glycol	http://purl.obolibrary.org/obo/CHEBI_23824	diol		A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent.
http://purl.obolibrary.org/obo/CHEBI_15366	acetic acid	http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid		A simple monocarboxylic acid containing two carbons.
http://purl.obolibrary.org/obo/CHEBI_15889	sterol	http://purl.obolibrary.org/obo/CHEBI_36834	3-hydroxy steroid		Any 3-hydroxy steroid whose skeleton is closely related to cholestan-3-ol (additional carbon atoms may be present in the side chain).
http://purl.obolibrary.org/obo/CHEBI_16336	hyaluronic acid	http://purl.obolibrary.org/obo/CHEBI_72813	exopolysaccharide		A mucopolysaccharide composed of <em>N</em>-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells.
http://purl.obolibrary.org/obo/CHEBI_16526	carbon dioxide	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		A one-carbon compound with formula CO<small><sub>2</sub></small> in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food.
http://purl.obolibrary.org/obo/CHEBI_17245	carbon monoxide	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas.
http://purl.obolibrary.org/obo/CHEBI_17295	L-phenylalanine	http://purl.obolibrary.org/obo/CHEBI_83813	proteinogenic amino acid		The <small>L</small>-enantiomer of phenylalanine.
http://purl.obolibrary.org/obo/CHEBI_17310	pyridoxal	http://purl.obolibrary.org/obo/CHEBI_38187	pyridinecarbaldehyde		A pyridinecarbaldehyde that is pyridine-4-carbaldehyde bearing methyl, hydroxy and hydroxymethyl substituents at positions 2, 3 and 5 respectively. The 4-carboxyaldehyde form of vitamin B<small><sub>6</sub></small>, it is converted into pyridoxal phosphate, a coenzyme for the synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid.
http://purl.obolibrary.org/obo/CHEBI_17334	penicillin	http://purl.obolibrary.org/obo/CHEBI_25865	penicillanic acids		Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6.
http://purl.obolibrary.org/obo/CHEBI_17895	L-tyrosine	http://purl.obolibrary.org/obo/CHEBI_83813	proteinogenic amino acid		An optically active form of tyrosine having <small>L</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_17996	chloride	http://purl.obolibrary.org/obo/CHEBI_33432	monoatomic chlorine		A halide anion formed when chlorine picks up an electron to form an an anion.
http://purl.obolibrary.org/obo/CHEBI_18059	lipid	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.
http://purl.obolibrary.org/obo/CHEBI_18310	alkane	http://purl.obolibrary.org/obo/CHEBI_33653	aliphatic compound		An acyclic branched or unbranched hydrocarbon having the general formula C<small><sub><em>n</em></sub></small>H<small><sub>2<em>n</em>+2</sub></small>, and therefore consisting entirely of hydrogen atoms and saturated carbon atoms.
http://purl.obolibrary.org/obo/CHEBI_22333	alkylating agent	http://purl.obolibrary.org/obo/CHEBI_25435	mutagen		Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases.
http://purl.obolibrary.org/obo/CHEBI_22501	aminodiol	http://purl.obolibrary.org/obo/CHEBI_22478	amino alcohol		An amino alcohol having two hydroxy functional groups.
http://purl.obolibrary.org/obo/CHEBI_22562	anilines	http://purl.obolibrary.org/obo/CHEBI_33860	aromatic amine		Any  aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives.
http://purl.obolibrary.org/obo/CHEBI_23357	cofactor	http://purl.obolibrary.org/obo/CHEBI_52206	biochemical role		An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group).
http://purl.obolibrary.org/obo/CHEBI_23824	diol	http://purl.obolibrary.org/obo/CHEBI_26191	polyol		A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols.
http://purl.obolibrary.org/obo/CHEBI_24533	heterodetic cyclic peptide	http://purl.obolibrary.org/obo/CHEBI_23449	cyclic peptide		A heterodetic cyclic peptide is a peptide consisting only of amino-acid residues, but in which the linkages forming the ring are not solely peptide bonds; one or more is an isopeptide, disulfide, ester, or other bond.
http://purl.obolibrary.org/obo/CHEBI_24675	hydroxybenzoate	http://purl.obolibrary.org/obo/CHEBI_22718	benzoates		Any benzoate derivative carrying a single carboxylate group and at least one hydroxy substituent.
http://purl.obolibrary.org/obo/CHEBI_24833	oxoacid	http://purl.obolibrary.org/obo/CHEBI_24651	hydroxides		A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons).
http://purl.obolibrary.org/obo/CHEBI_25367	molecule	http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity		Any polyatomic entity that is an electrically neutral entity consisting of more than one atom.
http://purl.obolibrary.org/obo/CHEBI_25696	organic anion	http://purl.obolibrary.org/obo/CHEBI_25699	organic ion		Any organic ion with a net negative charge.
http://purl.obolibrary.org/obo/CHEBI_2571	aliphatic alcohol	http://purl.obolibrary.org/obo/CHEBI_30879	alcohol		An  alcohol derived from an aliphatic compound.
http://purl.obolibrary.org/obo/CHEBI_26155	plant growth regulator	http://purl.obolibrary.org/obo/CHEBI_39317	growth regulator		A chemical, natural or artificial, that can affect the rate of growth of a plant.
http://purl.obolibrary.org/obo/CHEBI_26607	saturated fatty acid	http://purl.obolibrary.org/obo/CHEBI_35366	fatty acid		Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess.
http://purl.obolibrary.org/obo/CHEBI_27026	toxin	http://purl.obolibrary.org/obo/CHEBI_25212	metabolite		Poisonous substance produced by a biological organism such as a microbe, animal or plant.
http://purl.obolibrary.org/obo/CHEBI_27369	zwitterion	http://purl.obolibrary.org/obo/CHEBI_51151	dipolar compound		A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer).
http://purl.obolibrary.org/obo/CHEBI_29067	carboxylic acid anion	http://purl.obolibrary.org/obo/CHEBI_35406	oxoanion		The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated.
http://purl.obolibrary.org/obo/CHEBI_29985	L-glutamate(1-)	http://purl.obolibrary.org/obo/CHEBI_14321	glutamate(1-)		An α-amino-acid anion that is the conjugate base of <small>L</small>-glutamic acid, having anionic carboxy groups and a cationic amino group
http://purl.obolibrary.org/obo/CHEBI_30089	acetate	http://purl.obolibrary.org/obo/CHEBI_35757	monocarboxylic acid anion		A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid.
http://purl.obolibrary.org/obo/CHEBI_30363	isobutane	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		An alkane that is propane substituted by a methyl group at position 2.
http://purl.obolibrary.org/obo/CHEBI_30413	heme	http://purl.obolibrary.org/obo/CHEBI_33909	metallotetrapyrrole		A heme is any tetrapyrrolic chelate of iron.
http://purl.obolibrary.org/obo/CHEBI_33247	organic group	http://purl.obolibrary.org/obo/CHEBI_24433	group		Any substituent group or skeleton containing carbon.
http://purl.obolibrary.org/obo/CHEBI_33708	amino-acid residue	http://purl.obolibrary.org/obo/CHEBI_33247	organic group		When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue.
http://purl.obolibrary.org/obo/CHEBI_33856	aromatic amino acid	http://purl.obolibrary.org/obo/CHEBI_33709	amino acid		An amino acid whose structure includes an aromatic ring.
http://purl.obolibrary.org/obo/CHEBI_33893	reagent	http://purl.obolibrary.org/obo/CHEBI_33232	application		A substance used in a chemical reaction to detect, measure, examine, or produce other substances.
http://purl.obolibrary.org/obo/CHEBI_35191	triterpene	http://purl.obolibrary.org/obo/CHEBI_35186	terpene		A C<small><sub>30</sub></small> terpene.
http://purl.obolibrary.org/obo/CHEBI_35222	inhibitor	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		A substance that diminishes the rate of a chemical reaction.
http://purl.obolibrary.org/obo/CHEBI_35223	catalyst	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction.
http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_27369	zwitterion		The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group.
http://purl.obolibrary.org/obo/CHEBI_35284	ammonium betaine	http://purl.obolibrary.org/obo/CHEBI_35281	onium betaine		Any neutral molecule having charge-separated forms with a quaternary ammonium atom which bears no hydrogen atoms and that is not adjacent to the anionic atom.
http://purl.obolibrary.org/obo/CHEBI_35294	carbopolycyclic compound	http://purl.obolibrary.org/obo/CHEBI_35295	homopolycyclic compound		A polyclic compound in which all of the ring members are carbon atoms.
http://purl.obolibrary.org/obo/CHEBI_35337	central nervous system stimulant	http://purl.obolibrary.org/obo/CHEBI_35470	central nervous system drug		Any drug that enhances the activity of the central nervous system.
http://purl.obolibrary.org/obo/CHEBI_35493	antipyretic	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever.
http://purl.obolibrary.org/obo/CHEBI_35526	hypoglycemic agent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A drug which lowers the blood glucose level.
http://purl.obolibrary.org/obo/CHEBI_35705	immunosuppressive agent	http://purl.obolibrary.org/obo/CHEBI_50846	immunomodulator		An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response.
http://purl.obolibrary.org/obo/CHEBI_35856	lipoxygenase inhibitor	http://purl.obolibrary.org/obo/CHEBI_76837	EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor		A compound or agent that combines with lipoxygenase and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of the icosanoid products hydroxyicosatetraenoic acid and various leukotrienes.
http://purl.obolibrary.org/obo/CHEBI_35868	hydroxy monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_24669	hydroxy carboxylic acid		Any monocarboxylic acid which also contains a separate (alcoholic or phenolic) hydroxy substituent.
http://purl.obolibrary.org/obo/CHEBI_36498	galactosylceramide	http://purl.obolibrary.org/obo/CHEBI_5254	galactolipid		Any of the cerebrosides in which the monosaccharide head group is galactose.
http://purl.obolibrary.org/obo/CHEBI_36587	organic oxo compound	http://purl.obolibrary.org/obo/CHEBI_72695	organic molecule		Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element.
http://purl.obolibrary.org/obo/CHEBI_36700	phosphocholines	http://purl.obolibrary.org/obo/CHEBI_37734	phosphoric ester		Any compound having phosphocholine as part of its structure.
http://purl.obolibrary.org/obo/CHEBI_36836	3beta-hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_35681	secondary alcohol		A 3-hydroxy steroid in which the 3-hydroxy substituent is in the  β-position.
http://purl.obolibrary.org/obo/CHEBI_38234	DNA polymerase inhibitor	http://purl.obolibrary.org/obo/CHEBI_76815	EC 2.7.7.* (nucleotidyltransferase) inhibitor		Any inhibitor of a DNA polymerase.
http://purl.obolibrary.org/obo/CHEBI_38633	sodium channel blocker	http://purl.obolibrary.org/obo/CHEBI_39000	sodium channel modulator		An agent that inhibits sodium influx through cell membranes.
http://purl.obolibrary.org/obo/CHEBI_38869	general anaesthetic	http://purl.obolibrary.org/obo/CHEBI_38867	anaesthetic		Substance that produces loss of consciousness.
http://purl.obolibrary.org/obo/CHEBI_39024	clathrate compound	http://purl.obolibrary.org/obo/CHEBI_39022	inclusion compound		Inclusion compound in which the guest molecule is in a cage formed by the host molecule or by a lattice of host molecules.
http://purl.obolibrary.org/obo/CHEBI_46662	mineral	http://purl.obolibrary.org/obo/CHEBI_59999	chemical substance		In general, a mineral is a chemical substance that is normally crystalline formed and has been formed as a result of geological processes. The term also includes metamict substances (naturally occurring, formerly crystalline substances whose crystallinity has been destroyed by ionising radiation) and can include naturally occurring amorphous substances that have never been crystalline ('mineraloids') such as georgite and calciouranoite as well as substances formed by the action of geological processes on bigenic compounds ('biogenic minerals').
http://purl.obolibrary.org/obo/CHEBI_47622	acetate ester	http://purl.obolibrary.org/obo/CHEBI_33308	carboxylic ester		Any carboxylic ester where the carboxylic acid component is acetic acid.
http://purl.obolibrary.org/obo/CHEBI_47788	3-oxo steroid	http://purl.obolibrary.org/obo/CHEBI_3992	cyclic ketone		Any oxo steroid where an oxo substituent is located at position 3.
http://purl.obolibrary.org/obo/CHEBI_48356	protic solvent	http://purl.obolibrary.org/obo/CHEBI_48354	polar solvent		A polar solvent that is capable of acting as a hydron (proton) donor.
http://purl.obolibrary.org/obo/CHEBI_48705	agonist	http://purl.obolibrary.org/obo/CHEBI_52210	pharmacological role		Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own.
http://purl.obolibrary.org/obo/CHEBI_50177	dermatologic drug	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A drug used to treat or prevent skin disorders or for the routine care of skin.
http://purl.obolibrary.org/obo/CHEBI_50266	prodrug	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug.
http://purl.obolibrary.org/obo/CHEBI_50427	platelet aggregation inhibitor	http://purl.obolibrary.org/obo/CHEBI_50248	hematologic agent		A drug or agent which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system.
http://purl.obolibrary.org/obo/CHEBI_50683	EC 1.5.1.3 (dihydrofolate reductase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76863	EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor		An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD<small><sup>+</small></sup> or NADP<small><sup>+</small></sup> as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3).
http://purl.obolibrary.org/obo/CHEBI_50733	nutraceutical	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance.
http://purl.obolibrary.org/obo/CHEBI_52206	biochemical role	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		A biological role played by the molecular entity or part thereof within a biochemical context.
http://purl.obolibrary.org/obo/CHEBI_52217	pharmaceutical	http://purl.obolibrary.org/obo/CHEBI_33232	application		Any substance introduced into a living organism with therapeutic or diagnostic purpose.
http://purl.obolibrary.org/obo/CHEBI_58123	(2S)-2-hydroxy monocarboxylic acid anion	http://purl.obolibrary.org/obo/CHEBI_36059	hydroxy monocarboxylic acid anion		A hydroxy monocarboxylic acid anion where the hydroxy group is placed at position 2 (α to the carboxy group) and has (<i>S</i>)-stereochemistry; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_58953	saturated fatty acid anion	http://purl.obolibrary.org/obo/CHEBI_28868	fatty acid anion		Any fatty acid anion in which there is no C‒C unsaturation.
http://purl.obolibrary.org/obo/CHEBI_60004	mixture	http://purl.obolibrary.org/obo/CHEBI_59999	chemical substance		A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind.
http://purl.obolibrary.org/obo/CHEBI_60164	ionic polymer	http://purl.obolibrary.org/obo/CHEBI_60027	polymer		An ionic polymer is a polymer, composed of ionic macromolecules.
http://purl.obolibrary.org/obo/CHEBI_61469	polyanionic polymer	http://purl.obolibrary.org/obo/CHEBI_60164	ionic polymer		A polymer, composed of polyanion macromolecules.
http://purl.obolibrary.org/obo/CHEBI_62488	signalling molecule	http://purl.obolibrary.org/obo/CHEBI_33280	molecular messenger		A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell.
http://purl.obolibrary.org/obo/CHEBI_62643	anionic phospholipid	http://purl.obolibrary.org/obo/CHEBI_58945	organophosphate oxoanion		Any organophosphate oxoanion that is a negatively charged phospholipid, e.g. phosphatidylserine(1−), phosphatidate(2−), phosphatidylglycerol(1−).
http://purl.obolibrary.org/obo/CHEBI_62732	aromatic ester	http://purl.obolibrary.org/obo/CHEBI_35701	ester		An ester where the ester linkage is bonded directly to an aromatic system.
http://purl.obolibrary.org/obo/CHEBI_63436	carbohydrate acid derivative	http://purl.obolibrary.org/obo/CHEBI_63299	carbohydrate derivative		A carbohydrate derivative that is formally obtained from a carbohydrate acid.
http://purl.obolibrary.org/obo/CHEBI_63473	aromatic amino-acid anion	http://purl.obolibrary.org/obo/CHEBI_37022	amino-acid anion		An aromatic amino acid whose α-carboxylic acid group is ionized (non-protonated).
http://purl.obolibrary.org/obo/CHEBI_63551	carbohydrate acid derivative anion	http://purl.obolibrary.org/obo/CHEBI_29067	carboxylic acid anion		A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative.
http://purl.obolibrary.org/obo/CHEBI_64775	organic anionic group	http://purl.obolibrary.org/obo/CHEBI_64767	anionic group		An anionic group that contains carbon.
http://purl.obolibrary.org/obo/CHEBI_64909	poison	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism.
http://purl.obolibrary.org/obo/CHEBI_6495	lipoprotein	http://purl.obolibrary.org/obo/CHEBI_33837	conjugated protein		A clathrate complex consisting of a lipid enwrapped in a protein host without covalent binding in such a way that the complex has a hydrophilic outer surface consisting of all the protein and the polar ends of any phospholipids.
http://purl.obolibrary.org/obo/CHEBI_65212	polysaccharide derivative	http://purl.obolibrary.org/obo/CHEBI_167559	glycan		A carbohydrate derivative that is any derivative of a polysaccharide.
http://purl.obolibrary.org/obo/CHEBI_65255	food preservative	http://purl.obolibrary.org/obo/CHEBI_64047	food additive		Substances which are added to food in order to prevent decomposition caused by  microbial growth or by undesirable chemical changes.
http://purl.obolibrary.org/obo/CHEBI_65296	primary ammonium ion	http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative		An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_73216	EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76759	EC 3.* (hydrolase) inhibitor		Any hydrolase inhibitor that interferes with the action of a hydrolase which acts on acid anhydrides (EC 3.6.*.*).
http://purl.obolibrary.org/obo/CHEBI_74634	cardenolides	http://purl.obolibrary.org/obo/CHEBI_26766	steroid lactone		Any steroid lactone that is a  C23 steroid with a five-membered lactone ring at C-17 and its substituted derivatives. They form the aglycone constituents of cardiac glycosides.
http://purl.obolibrary.org/obo/CHEBI_74818	heteroaryl hydroxy compound	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		Any organic aromatic compound having one or more hydroxy groups attached to a heteroarene ring.
http://purl.obolibrary.org/obo/CHEBI_75768	mammalian metabolite	http://purl.obolibrary.org/obo/CHEBI_75767	animal metabolite		Any animal metabolite produced during a metabolic reaction in mammals.
http://purl.obolibrary.org/obo/CHEBI_75769	B vitamin	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		Any member of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B) that play important roles in cell metabolism. The group comprises of vitamin B<small><sub>1</sub></small>, B<small><sub>2</sub></small>, B<small><sub>3</sub></small>, B<small><sub>5</sub></small>, B<small><sub>6</sub></small>, B<small><sub>7</sub></small>, B<small><sub>9</sub></small>, and B<small><sub>12</sub></small> (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such).
http://purl.obolibrary.org/obo/CHEBI_76837	EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76740	EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor		An EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor that inhibits the action of any oxidoreductase incorporating 2 atoms of oxygen (EC 1.13.11.*).
http://purl.obolibrary.org/obo/CHEBI_76895	EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor	http://purl.obolibrary.org/obo/CHEBI_73216	EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor		An EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor that interferes with the action of any such enzyme that catalyses transmembrane movement of substances (EC 3.6.3.*).
http://purl.obolibrary.org/obo/CHEBI_78608	alpha-amino-acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		An amino acid-zwitterion obtained by transfer of a proton from the carboxy to the amino group of any α-amino acid; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_83039	crustacean metabolite	http://purl.obolibrary.org/obo/CHEBI_75767	animal metabolite		An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill.
http://purl.obolibrary.org/obo/CHEBI_83876	cationic sphingoid	http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative		An organic cation obtained by protonation of the amino function of any sphingoid
http://purl.obolibrary.org/obo/CHEBI_84087	human urinary metabolite	http://purl.obolibrary.org/obo/CHEBI_77746	human metabolite		Any metabolite (endogenous or exogenous) found in human urine samples.
http://purl.obolibrary.org/obo/CHEBI_86327	antifungal drug	http://purl.obolibrary.org/obo/CHEBI_35718	antifungal agent		Any antifungal agent used to prevent or treat fungal infections in humans or animals.
http://purl.obolibrary.org/obo/CHEBI_22221	acyl group	http://purl.obolibrary.org/obo/CHEBI_33247	organic group		An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure R<small><sub><em>k</em></sub></small>E(=O)<small><sub><em>l</em></sub></small>(OH)<small><sub><em>m</em></sub></small> (<em>l</em> ≠ 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids.
http://purl.obolibrary.org/obo/CHEBI_22271	aflatoxin	http://purl.obolibrary.org/obo/BFO_0000004	independent continuant		Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds <em>Aspergillus flavus</em> or <em>A. parasiticus</em>, together with further metabolites of these mycotoxins
http://purl.obolibrary.org/obo/CHEBI_22323	alkyl group	http://purl.obolibrary.org/obo/CHEBI_33248	hydrocarbyl group		A univalent group ‒C<small><sub><em>n</em></sub></small>H<small><sub>2<em>n</em>+1</sub></small> derived from an alkane by removal of a hydrogen atom from any carbon atom.
http://purl.obolibrary.org/obo/CHEBI_22563	anion	http://purl.obolibrary.org/obo/CHEBI_24870	ion		A monoatomic or polyatomic species having one or more elementary charges of the electron.
http://purl.obolibrary.org/obo/CHEBI_22868	bile salt	http://purl.obolibrary.org/obo/CHEBI_36078	cholanoid		A sodium salt of the conjugate of any bile acid with either glycine or taurine.
http://purl.obolibrary.org/obo/CHEBI_22918	branched-chain amino acid	http://purl.obolibrary.org/obo/CHEBI_33709	amino acid		Any  amino acid  in which the parent hydrocarbon chain has one or more alkyl substituents
http://purl.obolibrary.org/obo/CHEBI_23004	carbamoyl group	http://purl.obolibrary.org/obo/CHEBI_27207	univalent carboacyl group		The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid.
http://purl.obolibrary.org/obo/CHEBI_23079	cerebroside	http://purl.obolibrary.org/obo/CHEBI_17761	ceramide		Any member of a group of glycosphingolipids, also known as monoglycosylceramides, which are important components in animal muscle and nerve cell membranes.
http://purl.obolibrary.org/obo/CHEBI_23123	chloroacetate	http://purl.obolibrary.org/obo/CHEBI_85638	haloacetate(1-)		A haloacetate(1−) resulting from the deprotonation of the carboxy group of chloroacetic acid.
http://purl.obolibrary.org/obo/CHEBI_23132	chlorobenzenes	http://purl.obolibrary.org/obo/CHEBI_36683	organochlorine compound		Any organochlorine compound containing a benzene ring which is substituted by one or more chlorines.
http://purl.obolibrary.org/obo/CHEBI_23359	colchicine	http://purl.obolibrary.org/obo/CHEBI_35618	aromatic ether		An  alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[<em>a</em>]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus <em>Colchicum</em>.
http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity	http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity		Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity.
http://purl.obolibrary.org/obo/CHEBI_24319	EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76823	EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor		An EC 6.3.* (<em>C</em>‒<em>N</em> bond-forming ligase) inhibitor that interferes with the action of glutamate—ammonia ligase (EC 6.3.1.2).
http://purl.obolibrary.org/obo/CHEBI_24402	glycosphingolipid	http://purl.obolibrary.org/obo/CHEBI_26739	sphingolipid		A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid.
http://purl.obolibrary.org/obo/CHEBI_24432	biological role	http://purl.obolibrary.org/obo/CHEBI_50906	role		A role played by the molecular entity or part thereof within a biological context.
http://purl.obolibrary.org/obo/CHEBI_24532	organic heterocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33832	organic cyclic compound		A cyclic compound having as ring members atoms of carbon and at least of one other element.
http://purl.obolibrary.org/obo/CHEBI_24651	hydroxides	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH<small><sup>−</small></sup>).
http://purl.obolibrary.org/obo/CHEBI_24676	hydroxybenzoic acid	http://purl.obolibrary.org/obo/CHEBI_33853	phenols		Any benzoic acid carrying one or more phenolic hydroxy groups on the benzene ring.
http://purl.obolibrary.org/obo/CHEBI_24745	hydroxypyridine	http://purl.obolibrary.org/obo/CHEBI_26421	pyridines		Any member of the class of pyridines with at least one hydroxy substituent.
http://purl.obolibrary.org/obo/CHEBI_24835	inorganic molecular entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		A molecular entity that contains no carbon.
http://purl.obolibrary.org/obo/CHEBI_24866	salt	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		A salt is an assembly of cations and anions.
http://purl.obolibrary.org/obo/CHEBI_24870	ion	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		A molecular entity having a net electric charge.
http://purl.obolibrary.org/obo/CHEBI_25513	neutral glycosphingolipid	http://purl.obolibrary.org/obo/CHEBI_24402	glycosphingolipid		Any glycosphingolipid containing unsubstituted glycosyl moieties.
http://purl.obolibrary.org/obo/CHEBI_25701	organic oxide	http://purl.obolibrary.org/obo/CHEBI_72695	organic molecule		An oxide in which the oxygen atom is bonded to a carbon atom.
http://purl.obolibrary.org/obo/CHEBI_25710	organophosphorus compound	http://purl.obolibrary.org/obo/CHEBI_33285	heteroorganic entity		An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters.
http://purl.obolibrary.org/obo/CHEBI_25741	oxide	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		An oxide is a chemical compound of oxygen with other chemical elements.
http://purl.obolibrary.org/obo/CHEBI_25944	pesticide	http://purl.obolibrary.org/obo/CHEBI_33232	application		Strictly, a substance intended to kill pests. In common usage, any substance used for controlling, preventing, or destroying animal, microbiological or plant pests.
http://purl.obolibrary.org/obo/CHEBI_26020	phosphate	http://purl.obolibrary.org/obo/CHEBI_26079	phosphoric acid derivative		Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom.
http://purl.obolibrary.org/obo/CHEBI_26167	polar amino acid	http://purl.obolibrary.org/obo/CHEBI_33709	amino acid		Any amino acid whose side chain is capable of forming one or more hydrogen bonds.
http://purl.obolibrary.org/obo/CHEBI_26214	porphyrins	http://purl.obolibrary.org/obo/CHEBI_36309	cyclic tetrapyrrole		Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the α-positions by four methine groups to form a macrocyclic structure.
http://purl.obolibrary.org/obo/CHEBI_26469	quaternary nitrogen compound	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		A nitrogen molecular entity that is electronically neutral but which contains a quaternary nitrogen.
http://purl.obolibrary.org/obo/CHEBI_26605	saponin	http://purl.obolibrary.org/obo/CHEBI_24400	glycoside		A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species.
http://purl.obolibrary.org/obo/CHEBI_26710	sodium chloride	http://purl.obolibrary.org/obo/CHEBI_36093	inorganic chloride		An inorganic chloride salt having sodium(1+) as the counterion.
http://purl.obolibrary.org/obo/CHEBI_26714	sodium salt	http://purl.obolibrary.org/obo/CHEBI_35479	alkali metal salt		Any alkali metal salt having sodium(1+) as the cation.
http://purl.obolibrary.org/obo/CHEBI_26738	sphingenine	http://purl.obolibrary.org/obo/CHEBI_46963	2-aminooctadecene-1,3-diol		A 2-aminooctadecene-1,3-diol having (2<i>S</i>,3<i>R</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_26764	steroid hormone	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		Any steroid that acts as hormone.
http://purl.obolibrary.org/obo/CHEBI_2679	amphetamine	http://purl.obolibrary.org/obo/CHEBI_60911	racemate		A racemate comprising equimolar amounts of (<i>R</i>)-amphetamine (also known as levamphetamine or levoamphetamine) and (<i>S</i>)-amphetamine (also known as dexamfetamine or dextroamphetamine.
http://purl.obolibrary.org/obo/CHEBI_26820	sulfates	http://purl.obolibrary.org/obo/CHEBI_37826	sulfuric acid derivative		Salts and esters of sulfuric acid
http://purl.obolibrary.org/obo/CHEBI_26873	terpenoid	http://purl.obolibrary.org/obo/CHEBI_24913	isoprenoid		Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group.
http://purl.obolibrary.org/obo/CHEBI_26932	tetrapyrrole	http://purl.obolibrary.org/obo/CHEBI_38077	polypyrrole		A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.
http://purl.obolibrary.org/obo/CHEBI_27584	aldosterone	http://purl.obolibrary.org/obo/CHEBI_139590	primary alpha-hydroxy ketone		A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney.
http://purl.obolibrary.org/obo/CHEBI_27638	cobalt atom	http://purl.obolibrary.org/obo/CHEBI_88184	metal allergen		A cobalt group element atom that has atomic number 27.
http://purl.obolibrary.org/obo/CHEBI_27869	chloroacetic acid	http://purl.obolibrary.org/obo/CHEBI_16277	haloacetic acid		A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent.
http://purl.obolibrary.org/obo/CHEBI_27958	cocaine	http://purl.obolibrary.org/obo/CHEBI_50996	tertiary amino compound		A tropane alkaloid obtained from leaves of the South American shrub <em>Erythroxylon coca</em>.
http://purl.obolibrary.org/obo/CHEBI_28112	nickel atom	http://purl.obolibrary.org/obo/CHEBI_88184	metal allergen		Chemical element (nickel group element atom) with atomic number 28.
http://purl.obolibrary.org/obo/CHEBI_29101	sodium(1+)	http://purl.obolibrary.org/obo/CHEBI_37246	elemental sodium		A monoatomic monocation obtained from sodium.
http://purl.obolibrary.org/obo/CHEBI_29103	potassium(1+)	http://purl.obolibrary.org/obo/CHEBI_37247	elemental potassium		A monoatomic monocation obtained from potassium.
http://purl.obolibrary.org/obo/CHEBI_32627	leucinate	http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion		An α-amino-acid anion that is the conjugate base of leucine, arising from deprotonation of the carboxy group.
http://purl.obolibrary.org/obo/CHEBI_32628	leucinium	http://purl.obolibrary.org/obo/CHEBI_33719	alpha-amino-acid cation		An α-amino-acid cation that is the conjugate acid of leucine, arising from protonation of the amino group.
http://purl.obolibrary.org/obo/CHEBI_32988	amide	http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity		An amide is a derivative of an oxoacid R<small><sub><em>k</em></sub></small>E(=O)<small><sub><em>l</em></sub></small>(OH)<small><sub><em>m</em></sub></small> (<em>l</em> ≠ 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group.
http://purl.obolibrary.org/obo/CHEBI_33232	application	http://purl.obolibrary.org/obo/CHEBI_50906	role		Intended use of the molecular entity or part thereof by humans.
http://purl.obolibrary.org/obo/CHEBI_33238	monoatomic entity	http://purl.obolibrary.org/obo/CHEBI_33259	elemental molecular entity		A monoatomic entity is a molecular entity consisting of a single atom.
http://purl.obolibrary.org/obo/CHEBI_33240	coordination entity	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands).
http://purl.obolibrary.org/obo/CHEBI_33245	organic fundamental parent	http://purl.obolibrary.org/obo/CHEBI_37175	organic hydride		An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system.
http://purl.obolibrary.org/obo/CHEBI_33248	hydrocarbyl group	http://purl.obolibrary.org/obo/CHEBI_33249	organyl group		A univalent group formed by removing a hydrogen atom from a hydrocarbon.
http://purl.obolibrary.org/obo/CHEBI_33250	atom	http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity		A chemical entity constituting the smallest component of an element having the chemical properties of the element.
http://purl.obolibrary.org/obo/CHEBI_33253	nucleon	http://purl.obolibrary.org/obo/CHEBI_36347	nuclear particle		Heavy nuclear particle: proton or neutron.
http://purl.obolibrary.org/obo/CHEBI_33259	elemental molecular entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		A molecular entity all atoms of which have the same atomic number.
http://purl.obolibrary.org/obo/CHEBI_33285	heteroorganic entity	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms.
http://purl.obolibrary.org/obo/CHEBI_33296	alkali metal molecular entity	http://purl.obolibrary.org/obo/CHEBI_33674	s-block molecular entity		A molecular entity containing one or more atoms of an alkali metal.
http://purl.obolibrary.org/obo/CHEBI_33299	alkaline earth molecular entity	http://purl.obolibrary.org/obo/CHEBI_33674	s-block molecular entity		An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal.
http://purl.obolibrary.org/obo/CHEBI_33300	pnictogen	http://purl.obolibrary.org/obo/CHEBI_33560	p-block element atom		Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth.
http://purl.obolibrary.org/obo/CHEBI_33302	pnictogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity		A p-block molecular entity containing any pnictogen.
http://purl.obolibrary.org/obo/CHEBI_33303	chalcogen	http://purl.obolibrary.org/obo/CHEBI_33560	p-block element atom		Any p-block element belonging to the group 16 family of the periodic table.
http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity		Any p-block molecular entity containing a chalcogen.
http://purl.obolibrary.org/obo/CHEBI_33318	main group element atom	http://purl.obolibrary.org/obo/CHEBI_33250	atom		An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table.
http://purl.obolibrary.org/obo/CHEBI_33452	benzylic group	http://purl.obolibrary.org/obo/CHEBI_33249	organyl group		Arylmethyl groups and derivatives formed by substitution: ArCR<small><sub>2</sub></small>‒.
http://purl.obolibrary.org/obo/CHEBI_33521	metal atom	http://purl.obolibrary.org/obo/CHEBI_33250	atom		An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity.
http://purl.obolibrary.org/obo/CHEBI_33560	p-block element atom	http://purl.obolibrary.org/obo/CHEBI_33318	main group element atom		Any main group element atom belonging to the p-block of the periodic table.
http://purl.obolibrary.org/obo/CHEBI_33563	glycolipid	http://purl.obolibrary.org/obo/CHEBI_35740	liposaccharide		Any member of class of 1,2-di-<em>O</em>-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent.
http://purl.obolibrary.org/obo/CHEBI_33598	carbocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33597	homocyclic compound		A homocyclic compound in which all of the ring members are carbon atoms.
http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity	http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity		A main group molecular entity that contains one or more atoms of a p-block element.
http://purl.obolibrary.org/obo/CHEBI_33832	organic cyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		Any organic molecule that consists of atoms connected in the form of a ring.
http://purl.obolibrary.org/obo/CHEBI_33913	corrinoid	http://purl.obolibrary.org/obo/CHEBI_36309	cyclic tetrapyrrole		A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C‒ groups and one direct carbon-carbon bond linking α positions.
http://purl.obolibrary.org/obo/CHEBI_33937	macronutrient	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals.
http://purl.obolibrary.org/obo/CHEBI_35406	oxoanion	http://purl.obolibrary.org/obo/CHEBI_33273	polyatomic anion		An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen.
http://purl.obolibrary.org/obo/CHEBI_35785	sphingoid	http://purl.obolibrary.org/obo/CHEBI_26739	sphingolipid		Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds.
http://purl.obolibrary.org/obo/CHEBI_35942	neurotransmitter agent	http://purl.obolibrary.org/obo/CHEBI_52210	pharmacological role		A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function.
http://purl.obolibrary.org/obo/CHEBI_35992	penams	http://purl.obolibrary.org/obo/CHEBI_38106	organosulfur heterocyclic compound		Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5<i>R</i> configuration unless otherwise specified.
http://purl.obolibrary.org/obo/CHEBI_36277	bile acid salt	http://purl.obolibrary.org/obo/CHEBI_36078	cholanoid		A salt of a bile acid.
http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		Any molecular entity consisting of more than one atom.
http://purl.obolibrary.org/obo/CHEBI_36358	polyatomic ion	http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity		An ion consisting of more than one atom.
http://purl.obolibrary.org/obo/CHEBI_36685	chlorocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_36683	organochlorine compound		A carboxylic acid containing at least one chloro group.
http://purl.obolibrary.org/obo/CHEBI_36916	cation	http://purl.obolibrary.org/obo/CHEBI_24870	ion		A monoatomic or polyatomic species having one or more elementary charges of the proton.
http://purl.obolibrary.org/obo/CHEBI_36962	organochalcogen compound	http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity		An organochalcogen compound is a compound containing at least one carbon-chalcogen bond.
http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity	http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity		A molecular entity consisting of two or more chemical elements.
http://purl.obolibrary.org/obo/CHEBI_37838	carboacyl group	http://purl.obolibrary.org/obo/CHEBI_22221	acyl group		A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid.
http://purl.obolibrary.org/obo/CHEBI_38632	membrane transport modulator	http://purl.obolibrary.org/obo/CHEBI_52208	biophysical role		Any agent that affects the transport of molecular entities across a biological membrane.
http://purl.obolibrary.org/obo/CHEBI_39141	Bronsted acid	http://purl.obolibrary.org/obo/CHEBI_37527	acid		A molecular entity capable of donating a hydron to an acceptor (Brønsted base).
http://purl.obolibrary.org/obo/CHEBI_39317	growth regulator	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		Any chemical substance that inhibits the life-cycle of an organism.
http://purl.obolibrary.org/obo/CHEBI_39745	dihydrogenphosphate	http://purl.obolibrary.org/obo/CHEBI_35780	phosphate ion		A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated.
http://purl.obolibrary.org/obo/CHEBI_42724	(R)-amphetamine	http://purl.obolibrary.org/obo/CHEBI_132233	1-phenylpropan-2-amine		A 1-phenylpropan-2-amine that has <i>R</i> configuration.
http://purl.obolibrary.org/obo/CHEBI_4469	(S)-amphetamine	http://purl.obolibrary.org/obo/CHEBI_132233	1-phenylpropan-2-amine		A 1-phenylpropan-2-amine that has <i>S</i> configuration.
http://purl.obolibrary.org/obo/CHEBI_46963	2-aminooctadecene-1,3-diol	http://purl.obolibrary.org/obo/CHEBI_35785	sphingoid		An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2.
http://purl.obolibrary.org/obo/CHEBI_46964	2-aminooctadec-4-ene-1,3-diol	http://purl.obolibrary.org/obo/CHEBI_46963	2-aminooctadecene-1,3-diol		A 2-aminooctadecene-1,3-diol having its double bond at position 4.
http://purl.obolibrary.org/obo/CHEBI_46965	(2R,3S)-2-aminooctadec-4-ene-1,3-diol	http://purl.obolibrary.org/obo/CHEBI_46964	2-aminooctadec-4-ene-1,3-diol		A 2-aminooctadec-4-ene-1,3-diol having (2<i>R</i>,3<i>S</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_50325	proteinogenic amino-acid side-chain group	http://purl.obolibrary.org/obo/CHEBI_33249	organyl group		A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid.
http://purl.obolibrary.org/obo/CHEBI_50858	corticosteroid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		A natural or synthetic analogue of the hormones secreted by the adrenal gland.
http://purl.obolibrary.org/obo/CHEBI_50949	serotonin uptake inhibitor	http://purl.obolibrary.org/obo/CHEBI_48278	serotonergic drug		A compound that specifically inhibits the reuptake of serotonin in the brain. This increases the serotonin concentration in the synaptic cleft which then activates serotonin receptors to a greater extent.
http://purl.obolibrary.org/obo/CHEBI_51422	organodiyl group	http://purl.obolibrary.org/obo/CHEBI_51446	organic divalent group		Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s).
http://purl.obolibrary.org/obo/CHEBI_59698	phosphoric acids	http://purl.obolibrary.org/obo/CHEBI_33457	phosphorus oxoacid		Compounds containing one or more phosphoric acid units.
http://purl.obolibrary.org/obo/CHEBI_63161	glycosyl compound	http://purl.obolibrary.org/obo/CHEBI_63299	carbohydrate derivative		A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity.
http://purl.obolibrary.org/obo/CHEBI_63471	branched-chain amino-acid anion	http://purl.obolibrary.org/obo/CHEBI_37022	amino-acid anion		A branched-chain amino acid whose α-carboxylic acid group is ionized.
http://purl.obolibrary.org/obo/CHEBI_68452	azole	http://purl.obolibrary.org/obo/CHEBI_38179	monocyclic heteroarene		Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen.
http://purl.obolibrary.org/obo/CHEBI_76823	EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_75600	EC 6.3.* (C-N bond-forming ligase) inhibitor		An EC 6.3.* (<em>C</em>‒<em>N</em> bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*).
http://purl.obolibrary.org/obo/CHEBI_76907	EC 4.2.1.* (hydro-lyases) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76712	EC 4.2.* (C-O lyase) inhibitor		An EC 4.2.* (<em>C</em>‒<em>O</em> lyase) inhibitor that interferes with the action of any hydro-lyase (EC 4.2.1.*).
http://purl.obolibrary.org/obo/CHEBI_82663	elemental iron	http://purl.obolibrary.org/obo/CHEBI_33259	elemental molecular entity		An elemental molecular entity in which all of the atoms have atomic number 26.
http://purl.obolibrary.org/obo/CHEBI_83811	proteinogenic amino acid derivative	http://purl.obolibrary.org/obo/CHEBI_83821	amino-acid derivative		Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom.
http://purl.obolibrary.org/obo/CHEBI_83820	non-proteinogenic amino acid	http://purl.obolibrary.org/obo/CHEBI_33709	amino acid		Any amino-acid that is not naturally encoded in the genetic code of any organism.
http://purl.obolibrary.org/obo/CHEBI_38313	diazines	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure).
http://purl.obolibrary.org/obo/CHEBI_3892	corticotropin	http://purl.obolibrary.org/obo/CHEBI_33694	biomacromolecule		A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The <em>N</em>-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency.
http://purl.obolibrary.org/obo/CHEBI_39015	apolipoprotein	http://purl.obolibrary.org/obo/CHEBI_13850	apoprotein		Protein component on the surface of lipoprotein.
http://purl.obolibrary.org/obo/CHEBI_39022	inclusion compound	http://purl.obolibrary.org/obo/CHEBI_50967	non-covalently-bound molecular entity		A complex in which one component (the host) forms a cavity or, in the case of a crystal, a crystal lattice containing spaces in the shape of long tunnels or channels in which molecular entities of a second chemical species (the guest) are located. There is no covalent bonding between guest and host, the attraction being generally due to van der Waals forces.
http://purl.obolibrary.org/obo/CHEBI_39142	Bronsted base	http://purl.obolibrary.org/obo/CHEBI_22695	base		A molecular entity capable of accepting a hydron from a donor (Brønsted acid).
http://purl.obolibrary.org/obo/CHEBI_39144	Lewis base	http://purl.obolibrary.org/obo/CHEBI_22695	base		A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct.
http://purl.obolibrary.org/obo/CHEBI_50967	non-covalently-bound molecular entity	http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity		Systems consisting of two or more molecular entities held together by non-covalent interactions.
http://purl.obolibrary.org/obo/CHEBI_76668	EC 2.7.* (P-containing group transferase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_71300	EC 2.* (transferase) inhibitor		A transferase inhibitor that inhibits the action of a phosphorus-containing group transferase (EC 2.7.*.*).
http://purl.obolibrary.org/obo/CHEBI_76773	EC 3.1.1.* (carboxylic ester hydrolase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76760	EC 3.1.* (ester hydrolase) inhibitor		An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*).
http://purl.obolibrary.org/obo/CHEBI_76815	EC 2.7.7.* (nucleotidyltransferase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76668	EC 2.7.* (P-containing group transferase) inhibitor		An EC 2.7.* (<em>P</em>-containing group transferase) inhibitor that interferes with the action of any nucleotidyltransferase (EC 2.7.7.*).
http://purl.obolibrary.org/obo/CHEBI_76870	EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76736	EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor		An EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor that interferes with the action of any such enzyme using oxygen as acceptor (EC 1.9.3.*).
http://purl.obolibrary.org/obo/CHEBI_76932	pathway inhibitor	http://purl.obolibrary.org/obo/CHEBI_23924	enzyme inhibitor		An enzyme inhibitor that interferes with one or more steps in a metabolic pathway.
http://purl.obolibrary.org/obo/CHEBI_83970	cardiac glycoside	http://purl.obolibrary.org/obo/CHEBI_24400	glycoside		Steroid lactones containing sugar residues that act on the contractile force of the cardiac muscles.
http://purl.obolibrary.org/obo/CHEBI_50112	sex hormone	http://purl.obolibrary.org/obo/CHEBI_24621	hormone		Any hormone that is responsible for controlling sexual characteristics and reproductive function.
http://purl.obolibrary.org/obo/CHEBI_50689	reproductive control drug	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A substance used either in the prevention or facilitation of pregnancy.
http://purl.obolibrary.org/obo/CHEBI_51061	hormone receptor modulator	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites.
http://purl.obolibrary.org/obo/CHEBI_52209	aetiopathogenetic role	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		A role played by the molecular entity or part thereof which causes the development of a pathological process.
http://purl.obolibrary.org/obo/CHEBI_52396	alpha-oxyketone	http://purl.obolibrary.org/obo/CHEBI_52395	oxyketone		An oxyketone with the general formula R<small><sub>2</sub></small>C(=O) (R≠H) where one or more of the R groups contains an oxy (‒O‒) group and the oxy and carbonyl groups are bonded to the same carbon atom.
http://purl.obolibrary.org/obo/CHEBI_73913	antifolate	http://purl.obolibrary.org/obo/CHEBI_35221	antimetabolite		An antimetabolite that impairs the action of folic acids
http://purl.obolibrary.org/obo/CHEBI_76760	EC 3.1.* (ester hydrolase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76759	EC 3.* (hydrolase) inhibitor		A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*).
http://purl.obolibrary.org/obo/CHEBI_76838	EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76741	EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor		An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any such enzyme incorporating one atom of oxygen and using reduced flavin or flavoprotein as donor (EC 1.14.14.*).
http://purl.obolibrary.org/obo/CHEBI_76857	EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76729	EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor		An EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor that interferes with the action of any such enzyme using NAD<small><sup>+</small></sup> or NADP<small><sup>+</small></sup> as acceptor (EC 1.3.1.*).
http://purl.obolibrary.org/obo/CHEBI_76863	EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76731	EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor		An EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor that interferes with the action of any such enzyme using NAD<small><sup>+</small></sup> or NADP<small><sup>+</small></sup> as acceptor (EC 1.5.1.*).
http://purl.obolibrary.org/obo/CHEBI_76898	EC 1.14.14.1 (unspecific monooxygenase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76838	EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor		An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor that interferes with the action of an unspecified monooxygenase (EC 1.14.14.1).
http://purl.obolibrary.org/obo/CHEBI_90710	receptor modulator	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors.
http://purl.obolibrary.org/obo/CHEBI_6067	isotretinoin	http://purl.obolibrary.org/obo/CHEBI_26536	retinoic acid		A retinoic acid that is <i>all</i>-<i>trans</i>-retinoic acid in which the double bond which is α,β- to the carboxy group is isomerised to <i>Z</i> configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases.
http://purl.obolibrary.org/obo/CHEBI_60798	excitatory amino acid antagonist	http://purl.obolibrary.org/obo/CHEBI_48706	antagonist		Any substance which inhibits the action of receptors for excitatory amino acids.
http://purl.obolibrary.org/obo/CHEBI_71300	EC 2.* (transferase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_23924	enzyme inhibitor		An enzyme inhibitor that inhibits the action of a transferase (EC 2.*)
http://purl.obolibrary.org/obo/CHEBI_75381	EC 1.11.1.* (peroxidases) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76738	EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor		An EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor that interferes with the action of any of the peroxidases (EC 1.11.1.*).
http://purl.obolibrary.org/obo/CHEBI_8058	phencyclidine	http://purl.obolibrary.org/obo/CHEBI_26151	piperidines		A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group.  Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects.
http://purl.obolibrary.org/obo/CHEBI_83057	Daphnia metabolite	http://purl.obolibrary.org/obo/CHEBI_83039	crustacean metabolite		A crustacean metabolite produced by the genus of small planktonic arthropods, <em>Daphnia</em>
http://purl.obolibrary.org/obo/CHEBI_91519	norketamine	http://purl.obolibrary.org/obo/CHEBI_83403	monochlorobenzenes		A member of the class of cyclohexanones that is cyclohexanone in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by an amino group. It is the major metabolite of ketamine.
http://purl.obolibrary.org/obo/HP_0025032	Abnormality of digestive system physiology	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		A functional anomaly of the digestive system.
http://purl.obolibrary.org/obo/HP_0030044	Flexion contracture of digit	http://purl.obolibrary.org/obo/HP_0001371	Flexion contracture		A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
http://purl.obolibrary.org/obo/HP_0030047	Abnormal lateral ventricle morphology	http://purl.obolibrary.org/obo/HP_0002118	Abnormal cerebral ventricle morphology		A morphological anomaly of the lateral ventricle.
http://purl.obolibrary.org/obo/HP_0030500	Yellow/white macular lesion	http://purl.obolibrary.org/obo/HP_0030506	Yellow/white retinal lesion		A type of white and/or yellow lesion located anywhere within the macula. These lesions can be flat or raised and can vary in size from very small to bigger.
http://purl.obolibrary.org/obo/HP_0040088	Abnormal lymphocyte count	http://purl.obolibrary.org/obo/HP_0011893	Abnormal leukocyte count		Any abnormality in the total number of lymphocytes in the blood.
http://purl.obolibrary.org/obo/HP_3000022	Abnormal external ear cartilage morphology	http://purl.obolibrary.org/obo/HP_0002763	Abnormal cartilage morphology		An abnormality of a cartilage of external ear.
http://purl.obolibrary.org/obo/HP_3000040	Abnormality of ethmoid sinus	http://purl.obolibrary.org/obo/HP_0000245	Abnormal paranasal sinus morphology		An abnormality of an ethmoid sinus.
http://purl.obolibrary.org/obo/HP_3000062	Abnormal internal carotid artery morphology	http://purl.obolibrary.org/obo/HP_3000036	Abnormal head blood vessel morphology		An abnormality of an internal carotid artery.
http://purl.obolibrary.org/obo/CHEBI_136849	3-oxo-Delta(4)-steroid group	http://purl.obolibrary.org/obo/CHEBI_33247	organic group		An organic group derived from any 3-oxo-Δ<small><sup>4</small></sup>-steroid.
http://purl.obolibrary.org/obo/CHEBI_136859	pro-agent	http://purl.obolibrary.org/obo/CHEBI_33232	application		A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent.
http://purl.obolibrary.org/obo/HP_0031442	Abnormal tricuspid chordae tendinae morphology	http://purl.obolibrary.org/obo/HP_0001702	Abnormal tricuspid valve morphology		Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.
http://purl.obolibrary.org/obo/HP_0031546	Cardiac conduction abnormality	http://purl.obolibrary.org/obo/HP_0030956	Abnormality of cardiovascular system electrophysiology		Any anomaly of the progression of electrical impulses through the heart.
http://purl.obolibrary.org/obo/MONDO_0007389	spondylocostal dysostosis 5	http://purl.obolibrary.org/obo/MONDO_0000359	spondylocostal dysostosis		Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.
http://purl.obolibrary.org/obo/MONDO_0007399	TWIST1-related craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0018971	isolated oxycephaly		Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.
http://purl.obolibrary.org/obo/MONDO_0007401	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007403	inherited Creutzfeldt-Jakob disease	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.
http://purl.obolibrary.org/obo/MONDO_0007411	cutis laxa, autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0019571	autosomal dominant cutis laxa		Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.
http://purl.obolibrary.org/obo/MONDO_0007414	Gorham-Stout disease	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.
http://purl.obolibrary.org/obo/MONDO_0007437	dentin dysplasia type II	http://purl.obolibrary.org/obo/MONDO_0015613	dentin dysplasia		Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.
http://purl.obolibrary.org/obo/MONDO_0007441	dentinogenesis imperfecta type 2	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.
http://purl.obolibrary.org/obo/MONDO_0007443	congenital unilateral hypoplasia of depressor anguli oris	http://purl.obolibrary.org/obo/MONDO_0018923	22q11.2 deletion syndrome		Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).
http://purl.obolibrary.org/obo/MONDO_0007447	autosomal dominant vibratory urticaria	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.
http://purl.obolibrary.org/obo/MONDO_0007478	autosomal dominant Kenny-Caffey syndrome	http://purl.obolibrary.org/obo/MONDO_1060172	FAM111A-related skeletal dysplasia		An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.
http://purl.obolibrary.org/obo/MONDO_0007504	thickened earlobes-conductive deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007514	ectopia lentis 1, isolated, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015998	isolated ectopia lentis		Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.
http://purl.obolibrary.org/obo/MONDO_0007522	Ehlers-Danlos syndrome, classic type	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.
http://purl.obolibrary.org/obo/MONDO_0007525	Ehlers-Danlos syndrome, arthrochalasia type	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		An inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
http://purl.obolibrary.org/obo/MONDO_0007547	epidermoid cysts	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.
http://purl.obolibrary.org/obo/MONDO_0007549	generalized dominant dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
http://purl.obolibrary.org/obo/MONDO_0007554	epidermolysis bullosa simplex 1B, generalized intermediate	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.
http://purl.obolibrary.org/obo/MONDO_0007560	reading seizures	http://purl.obolibrary.org/obo/MONDO_0800494	variable-age onset combined generalized and focal epilepsy syndrome		A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.
http://purl.obolibrary.org/obo/MONDO_0007561	multiple epiphyseal dysplasia type 1	http://purl.obolibrary.org/obo/MONDO_0100593	COMP-related skeletal dysplasia		Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
http://purl.obolibrary.org/obo/MONDO_0007562	multiple epiphyseal dysplasia, Beighton type	http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy		Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.
http://purl.obolibrary.org/obo/MONDO_0007571	primary erythermalgia	http://purl.obolibrary.org/obo/MONDO_0016028	erythromelalgia		Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.
http://purl.obolibrary.org/obo/MONDO_0007590	hemifacial hypertrophy	http://purl.obolibrary.org/obo/MONDO_0019716	overgrowth syndrome		Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.
http://purl.obolibrary.org/obo/MONDO_0007608	desmoid tumor	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.
http://purl.obolibrary.org/obo/MONDO_0007617	Coffin-Siris syndrome 1	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.
http://purl.obolibrary.org/obo/MONDO_0007618	Eng-Strom syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Eng-Strom syndrome is characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007627	focal facial dermal dysplasia type I	http://purl.obolibrary.org/obo/MONDO_0018363	focal facial dermal dysplasia		Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.
http://purl.obolibrary.org/obo/MONDO_0007628	foveal hypoplasia 1	http://purl.obolibrary.org/obo/MONDO_0800183	PAX6-related ocular dysgenesis		Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.
http://purl.obolibrary.org/obo/MONDO_0007636	frontorhiny	http://purl.obolibrary.org/obo/MONDO_0016643	frontonasal dysplasia		Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.
http://purl.obolibrary.org/obo/MONDO_0007662	anterior segment dysgenesis 4	http://purl.obolibrary.org/obo/MONDO_0019628	Rieger anomaly		Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.
http://purl.obolibrary.org/obo/MONDO_0007712	oculoauriculovertebral spectrum with radial defects	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
http://purl.obolibrary.org/obo/MONDO_0007723	Hirschsprung disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.
http://purl.obolibrary.org/obo/MONDO_0007728	acne inversa, familial, 1	http://purl.obolibrary.org/obo/MONDO_0024516	familial acne inversa		Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.
http://purl.obolibrary.org/obo/MONDO_0007741	congenital hydronephrosis	http://purl.obolibrary.org/obo/MONDO_0005510	hydronephrosis		Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.
http://purl.obolibrary.org/obo/MONDO_0007743	attention deficit-hyperactivity disorder	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type.
http://purl.obolibrary.org/obo/MONDO_0007758	epidermolytic palmoplantar keratoderma, 1	http://purl.obolibrary.org/obo/MONDO_0968949	palmoplantar keratoderma, epidermolytic		A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.
http://purl.obolibrary.org/obo/MONDO_0007764	autosomal dominant osteosclerosis, Worth type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.
http://purl.obolibrary.org/obo/MONDO_0007781	essential hypertension, genetic	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An instance of essential hypertension that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0007783	malignant hyperthermia, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0800188	malignant hyperthermia, susceptibility to		Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.
http://purl.obolibrary.org/obo/MONDO_0007817	IgE responsiveness, atopic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.
http://purl.obolibrary.org/obo/MONDO_0007838	Jacobsen syndrome	http://purl.obolibrary.org/obo/MONDO_0016910	partial deletion of the long arm of chromosome 11		A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.
http://purl.obolibrary.org/obo/MONDO_0007858	palmoplantar keratoderma, punctate type 1A	http://purl.obolibrary.org/obo/MONDO_0019332	punctate palmoplantar keratoderma type 1		Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.
http://purl.obolibrary.org/obo/MONDO_0007861	isolated cloverleaf skull syndrome	http://purl.obolibrary.org/obo/MONDO_0015337	isolated craniosynostosis		Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.
http://purl.obolibrary.org/obo/MONDO_0007893	Noonan syndrome with multiple lentigines	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
http://purl.obolibrary.org/obo/MONDO_0007906	familial partial lipodystrophy, Dunnigan type	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.
http://purl.obolibrary.org/obo/MONDO_0007909	familial multiple lipomatosis	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.
http://purl.obolibrary.org/obo/MONDO_0007919	lymphatic malformation 1	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.
http://purl.obolibrary.org/obo/MONDO_0007930	Bernard-Soulier syndrome, type A2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0009276	Bernard-Soulier syndrome		A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.
http://purl.obolibrary.org/obo/MONDO_0007931	vitelliform macular dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0000390	vitelliform macular dystrophy		Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.
http://purl.obolibrary.org/obo/MONDO_0007944	Treacher Collins syndrome 1	http://purl.obolibrary.org/obo/MONDO_0002457	Treacher-Collins syndrome		Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.
http://purl.obolibrary.org/obo/MONDO_0007982	metaphyseal chondrodysplasia, Jansen type	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
http://purl.obolibrary.org/obo/MONDO_0007984	metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0007993	microgastria-limb reduction defect syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		This syndrome is characterized by the association of microgastria with a limb reduction defect.
http://purl.obolibrary.org/obo/MONDO_0008002	mirror movements 1	http://purl.obolibrary.org/obo/MONDO_0100515	mirror movements 1 and/or agenesis of the corpus callosum		Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.
http://purl.obolibrary.org/obo/MONDO_0008004	familial mitral valve prolapse	http://purl.obolibrary.org/obo/MONDO_0042966	inherited mitral valve disease		An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0008005	cardiospondylocarpofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0019690	filamin-related bone disorder		Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
http://purl.obolibrary.org/obo/MONDO_0008021	Cowden syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016063	Cowden disease		Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.
http://purl.obolibrary.org/obo/MONDO_0008023	muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0008024	neuronopathy, distal hereditary motor, type 7A	http://purl.obolibrary.org/obo/MONDO_0015355	distal hereditary motor neuropathy type 7		Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.
http://purl.obolibrary.org/obo/MONDO_0008025	neuronopathy, distal hereditary motor, type 2A	http://purl.obolibrary.org/obo/MONDO_0015352	distal hereditary motor neuropathy type 2		Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet and chronic neurogenic alterations in electromyography.
http://purl.obolibrary.org/obo/MONDO_0008030	facioscapulohumeral muscular dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0001347	facioscapulohumeral muscular dystrophy		Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
http://purl.obolibrary.org/obo/MONDO_0008050	MYH7-related skeletal myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.
http://purl.obolibrary.org/obo/MONDO_0008057	Carney complex, type 1	http://purl.obolibrary.org/obo/MONDO_0015285	Carney complex		Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.
http://purl.obolibrary.org/obo/MONDO_0008062	narcolepsy 1	http://purl.obolibrary.org/obo/MONDO_0100554	hereditary narcolepsy		A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.
http://purl.obolibrary.org/obo/MONDO_0008073	familial juvenile hyperuricemic nephropathy type 1	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.
http://purl.obolibrary.org/obo/MONDO_0008075	schwannomatosis	http://purl.obolibrary.org/obo/MONDO_0021061	neurofibromatosis		The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
http://purl.obolibrary.org/obo/MONDO_0008086	neuropathy, hereditary sensory and autonomic, type 1A	http://purl.obolibrary.org/obo/MONDO_0018213	hereditary sensory and autonomic neuropathy type 1		An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.
http://purl.obolibrary.org/obo/MONDO_0008094	familial multiple nevi flammei	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.
http://purl.obolibrary.org/obo/MONDO_0008095	nevus anemicus	http://purl.obolibrary.org/obo/MONDO_0021658	vascular ectasia		A capillary vascular anomaly that is characterized by hypopigmented macules.
http://purl.obolibrary.org/obo/MONDO_0008097	linear nevus sebaceous syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).
http://purl.obolibrary.org/obo/MONDO_0008101	familial supernumerary nipples	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.
http://purl.obolibrary.org/obo/MONDO_0008108	oculocerebrocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.
http://purl.obolibrary.org/obo/MONDO_0008115	Feingold syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0015267	Feingold syndrome		Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.
http://purl.obolibrary.org/obo/MONDO_0008134	autosomal dominant optic atrophy, classic form	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects.
http://purl.obolibrary.org/obo/MONDO_0008143	osteoarthritis susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.
http://purl.obolibrary.org/obo/MONDO_0008157	Buschke-Ollendorff syndrome	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.
http://purl.obolibrary.org/obo/MONDO_0008161	otodental syndrome	http://purl.obolibrary.org/obo/MONDO_0016910	partial deletion of the long arm of chromosome 11		Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0008165	southeast Asian ovalocytosis	http://purl.obolibrary.org/obo/MONDO_0017319	hereditary elliptocytosis		Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.
http://purl.obolibrary.org/obo/MONDO_0008173	pachyonychia congenita 1	http://purl.obolibrary.org/obo/MONDO_0016471	pachyonychia congenita		Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.
http://purl.obolibrary.org/obo/MONDO_0008174	pachyonychia congenita 2	http://purl.obolibrary.org/obo/MONDO_0016471	pachyonychia congenita		Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.
http://purl.obolibrary.org/obo/MONDO_0008177	extramammary Paget disease	http://purl.obolibrary.org/obo/MONDO_0021165	Paget disease		A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.
http://purl.obolibrary.org/obo/MONDO_0008185	hereditary chronic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0005003	chronic pancreatitis		Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.
http://purl.obolibrary.org/obo/MONDO_0008192	pheochromocytoma/paraganglioma syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017366	hereditary pheochromocytoma-paraganglioma		An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHD gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).
http://purl.obolibrary.org/obo/MONDO_0008195	paramyotonia congenita of Von Eulenburg	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
http://purl.obolibrary.org/obo/MONDO_0008197	parietal foramina 1	http://purl.obolibrary.org/obo/MONDO_0018953	parietal foramina		Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.
http://purl.obolibrary.org/obo/MONDO_0008199	late-onset Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0005180	Parkinson disease		A Parkinson disease that begins after around the age of 50.
http://purl.obolibrary.org/obo/MONDO_0008246	pigmented paravenous retinochoroidal atrophy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.
http://purl.obolibrary.org/obo/MONDO_0008265	polycystic liver disease 1	http://purl.obolibrary.org/obo/MONDO_0000447	autosomal dominant polycystic liver disease		A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.
http://purl.obolibrary.org/obo/MONDO_0008270	polydactyly of a triphalangeal thumb	http://purl.obolibrary.org/obo/MONDO_0017425	preaxial polydactyly of fingers		A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.
http://purl.obolibrary.org/obo/MONDO_0008272	polysyndactyly 4	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Preaxial polydactyly characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx, occasional syndactyly of various degrees of third-and-fourth fingers, and duplication of part or all of the first or second toes and syndactyly.
http://purl.obolibrary.org/obo/MONDO_0008289	brain small vessel disease 1 with or without ocular anomalies	http://purl.obolibrary.org/obo/MONDO_0020496	familial porencephaly		Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.
http://purl.obolibrary.org/obo/MONDO_0008291	porokeratosis plantaris palmaris et disseminata	http://purl.obolibrary.org/obo/MONDO_0006602	porokeratosis		Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.
http://purl.obolibrary.org/obo/MONDO_0008292	punctate palmoplantar keratoderma type 2	http://purl.obolibrary.org/obo/MONDO_0017675	punctate palmoplantar keratoderma		Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.
http://purl.obolibrary.org/obo/MONDO_0008296	familial porphyria cutanea tarda	http://purl.obolibrary.org/obo/MONDO_0100498	UROD-related inherited porphyria		An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0008302	central precocious puberty 1	http://purl.obolibrary.org/obo/MONDO_0019165	central precocious puberty		Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.
http://purl.obolibrary.org/obo/MONDO_0008303	familial male-limited precocious puberty	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
http://purl.obolibrary.org/obo/MONDO_0008305	Currarino triad	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).
http://purl.obolibrary.org/obo/MONDO_0008319	protoporphyria, erythropoietic, 1	http://purl.obolibrary.org/obo/MONDO_0019263	autosomal erythropoietic protoporphyria		An erythropoietic protoporphyria caused by biallelic variants in FECH (an autosomal recessive inheritance pattern) and causing primarily accumulation of protoporphyrin IX. Symptoms include extremely painful photosensitivity in childhood, possible microcytic anemia, cholelithiasis, and ~5% of patients develop liver failure. The majority of individuals with FECH-related erythropoietic protoporphyria harbor a hypomorphic variant (NM_000140.5:c.315-48T>C), which reduces enzyme levels by ~35%, in trans to a second pathogenic variant. Clinically individuals with this form of porphyria cannot be distinguished from those with ALAS2-related erythropoietic protoporphyria.
http://purl.obolibrary.org/obo/MONDO_0008334	psoriasis 1, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene.
http://purl.obolibrary.org/obo/MONDO_0008348	pulmonary nodular lymphoid hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.
http://purl.obolibrary.org/obo/MONDO_0008358	radial ray hypoplasia-choanal atresia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.
http://purl.obolibrary.org/obo/MONDO_0008368	autosomal dominant distal renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_1060161	inherited distal renal tubular acidosis		A distal renal tubular acidosis that is caused by the mutation in SLC4A1 gene and follows the autosomal dominant inheritance. It is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, nephrolithiasis, and metabolic bone disease.
http://purl.obolibrary.org/obo/MONDO_0008369	proximal renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0001909	renal tubular acidosis		Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
http://purl.obolibrary.org/obo/MONDO_0008393	Rubinstein-Taybi syndrome due to CREBBP mutations	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.
http://purl.obolibrary.org/obo/MONDO_0008397	aplasia of lacrimal and salivary glands	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
http://purl.obolibrary.org/obo/MONDO_0008399	sarcoidosis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
http://purl.obolibrary.org/obo/MONDO_0008414	schizophrenia 1	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.
http://purl.obolibrary.org/obo/MONDO_0008426	Shprintzen-Goldberg syndrome	http://purl.obolibrary.org/obo/MONDO_0017310	Marfan and Marfan-related disorder		Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0008440	spastic paraplegia-nephritis-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.
http://purl.obolibrary.org/obo/MONDO_0008445	delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.
http://purl.obolibrary.org/obo/MONDO_0008473	spondyloepimetaphyseal dysplasia, Maroteaux type	http://purl.obolibrary.org/obo/MONDO_0018240	TRPV4-related bone disorder		A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
http://purl.obolibrary.org/obo/MONDO_0008484	stapes ankylosis with broad thumbs and toes	http://purl.obolibrary.org/obo/MONDO_0100521	NOG-related symphalangism spectrum disorder		Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
http://purl.obolibrary.org/obo/MONDO_0008485	sebocystomatosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.
http://purl.obolibrary.org/obo/MONDO_0008512	syndactyly type 1	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.
http://purl.obolibrary.org/obo/MONDO_0008513	synpolydactyly type 1	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.
http://purl.obolibrary.org/obo/MONDO_0008519	multiple synostoses syndrome 1	http://purl.obolibrary.org/obo/MONDO_0100521	NOG-related symphalangism spectrum disorder		Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.
http://purl.obolibrary.org/obo/MONDO_0008546	thanatophoric dysplasia type 1	http://purl.obolibrary.org/obo/MONDO_0017042	thanatophoric dysplasia		Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
http://purl.obolibrary.org/obo/MONDO_0008551	thoracolaryngopelvic dysplasia	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.
http://purl.obolibrary.org/obo/MONDO_0008559	thrombophilia due to thrombin defect	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		The formation of a blood clot (thrombus) in the lumen of a vein.
http://purl.obolibrary.org/obo/MONDO_0008560	thrombophilia due to activated protein C resistance	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.
http://purl.obolibrary.org/obo/MONDO_0008563	thumb stiffness-brachydactyly-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.
http://purl.obolibrary.org/obo/MONDO_0008570	thyrotoxic periodic paralysis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.
http://purl.obolibrary.org/obo/MONDO_0008583	inherited torticollis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.
http://purl.obolibrary.org/obo/MONDO_0008603	trigonocephaly 1	http://purl.obolibrary.org/obo/MONDO_0018065	isolated trigonocephaly		Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.
http://purl.obolibrary.org/obo/MONDO_0008612	tuberous sclerosis 1	http://purl.obolibrary.org/obo/MONDO_0001734	tuberous sclerosis		An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.
http://purl.obolibrary.org/obo/MONDO_0008637	bifid uvula	http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate		Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.
http://purl.obolibrary.org/obo/MONDO_0008642	VACTERL/vater association	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
http://purl.obolibrary.org/obo/MONDO_0008648	ventricular tachycardia, familial	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0008675	Freeman-Sheldon syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
http://purl.obolibrary.org/obo/MONDO_0008676	white sponge nevus 1	http://purl.obolibrary.org/obo/MONDO_0015748	hereditary mucosal leukokeratosis		Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.
http://purl.obolibrary.org/obo/MONDO_0008686	isolated familial wooly hair disorder	http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly		Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.
http://purl.obolibrary.org/obo/MONDO_0008710	RAB23-related Carpenter syndrome	http://purl.obolibrary.org/obo/MONDO_0019012	Carpenter syndrome		Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.
http://purl.obolibrary.org/obo/MONDO_0008718	Morvan syndrome	http://purl.obolibrary.org/obo/MONDO_0019119	muscular channelopathy		Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.
http://purl.obolibrary.org/obo/MONDO_0008724	adducted thumbs-arthrogryposis syndrome, Christian type	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.
http://purl.obolibrary.org/obo/MONDO_0008725	congenital lipoid adrenal hyperplasia due to STAR deficency	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.
http://purl.obolibrary.org/obo/MONDO_0008727	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0018479	congenital adrenal hyperplasia		Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.
http://purl.obolibrary.org/obo/MONDO_0008728	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0018479	congenital adrenal hyperplasia		The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.
http://purl.obolibrary.org/obo/MONDO_0008730	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0018479	congenital adrenal hyperplasia		A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.
http://purl.obolibrary.org/obo/MONDO_0008734	adrenocortical carcinoma, hereditary	http://purl.obolibrary.org/obo/MONDO_0006639	adrenal cortex carcinoma		An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0008738	aganglionosis, total intestinal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0008745	oculocutaneous albinism type 1A	http://purl.obolibrary.org/obo/MONDO_0040653	autosomal recessive ocular albinism		Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
http://purl.obolibrary.org/obo/MONDO_0008747	oculocutaneous albinism type 3	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.
http://purl.obolibrary.org/obo/MONDO_0008756	alopecia - intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
http://purl.obolibrary.org/obo/MONDO_0008787	microcytic anemia with liver iron overload	http://purl.obolibrary.org/obo/MONDO_0017763	disorder of iron metabolism and transport		Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.
http://purl.obolibrary.org/obo/MONDO_0008791	anencephaly 1	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
http://purl.obolibrary.org/obo/MONDO_0008799	anophthalmia/microphthalmia-esophageal atresia syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
http://purl.obolibrary.org/obo/MONDO_0008809	polyneuropathy-hand defect syndrome	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.
http://purl.obolibrary.org/obo/MONDO_0008816	Chiari malformation type II	http://purl.obolibrary.org/obo/MONDO_0000115	Chiari malformation		Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.
http://purl.obolibrary.org/obo/MONDO_0008817	arterial calcification, generalized, of infancy, 1	http://purl.obolibrary.org/obo/MONDO_0018870	arterial calcification of infancy		An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.
http://purl.obolibrary.org/obo/MONDO_0008822	arthrogryposis, renal dysfunction, and cholestasis 1	http://purl.obolibrary.org/obo/MONDO_0017123	arthrogryposis-renal dysfunction-cholestasis syndrome		Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
http://purl.obolibrary.org/obo/MONDO_0008833	renal-hepatic-pancreatic dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0017417	renal-hepatic-pancreatic dysplasia		Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.
http://purl.obolibrary.org/obo/MONDO_0008843	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
http://purl.obolibrary.org/obo/MONDO_0008861	3-methylcrotonyl-CoA carboxylase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0018950	3-methylcrotonyl-CoA carboxylase deficiency		Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.
http://purl.obolibrary.org/obo/MONDO_0008866	bifid nose, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		Autosomal recessive form of bifid nose.
http://purl.obolibrary.org/obo/MONDO_0008869	Seckel syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019342	Seckel syndrome		Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.
http://purl.obolibrary.org/obo/MONDO_0008891	riboflavin transporter deficiency	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
http://purl.obolibrary.org/obo/MONDO_0008892	progressive familial intrahepatic cholestasis type 1	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
http://purl.obolibrary.org/obo/MONDO_0008908	MGAT2-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).
http://purl.obolibrary.org/obo/MONDO_0008915	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
http://purl.obolibrary.org/obo/MONDO_0008921	carnosinemia	http://purl.obolibrary.org/obo/MONDO_0009351	homocarnosinosis		Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.
http://purl.obolibrary.org/obo/MONDO_0008926	COFS syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
http://purl.obolibrary.org/obo/MONDO_0008927	colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.
http://purl.obolibrary.org/obo/MONDO_0008941	hepatic fibrosis-renal cysts-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
http://purl.obolibrary.org/obo/MONDO_0008955	cerebrooculofacioskeletal syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008926	COFS syndrome		Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.
http://purl.obolibrary.org/obo/MONDO_0008960	Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
http://purl.obolibrary.org/obo/MONDO_0008982	central areolar choroidal dystrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.
http://purl.obolibrary.org/obo/MONDO_0008988	citrullinemia type I	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).
http://purl.obolibrary.org/obo/MONDO_0008998	Cockayne syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0016006	Cockayne syndrome		Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.
http://purl.obolibrary.org/obo/MONDO_0009005	complement component C1r/C1s deficiency	http://purl.obolibrary.org/obo/MONDO_0015699	immunodeficiency due to a classical component pathway complement deficiency		Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.
http://purl.obolibrary.org/obo/MONDO_0009009	hypoplasminogenemia	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.
http://purl.obolibrary.org/obo/MONDO_0009032	cranioectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
http://purl.obolibrary.org/obo/MONDO_0009043	generalized resistance to thyroid hormone	http://purl.obolibrary.org/obo/MONDO_0004425	hyperthyroidism		A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.
http://purl.obolibrary.org/obo/MONDO_0009049	Cushing syndrome due to macronodular adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0020529	ACTH-independent Cushing syndrome		A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described.
http://purl.obolibrary.org/obo/MONDO_0009052	cutis laxa, autosomal recessive, type 1A	http://purl.obolibrary.org/obo/MONDO_0019572	autosomal recessive cutis laxa type 1		An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/MONDO_0009053	ALDH18A1-related de Barsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.
http://purl.obolibrary.org/obo/MONDO_0009082	high myopia-sensorineural deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.
http://purl.obolibrary.org/obo/MONDO_0009097	persistent hyperplastic primary vitreous, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019631	persistent hyperplastic primary vitreous		Autosomal recessive form of persistent hyperplastic primary vitreous.
http://purl.obolibrary.org/obo/MONDO_0009099	nephrogenic diabetes insipidus-intracranial calcification syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0009100	type 1 diabetes mellitus 1	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3.
http://purl.obolibrary.org/obo/MONDO_0009105	trichohepatoenteric syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
http://purl.obolibrary.org/obo/MONDO_0009106	diastematomyelia	http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect		A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.
http://purl.obolibrary.org/obo/MONDO_0009111	dihydropyrimidinuria	http://purl.obolibrary.org/obo/MONDO_0019238	inborn disorder of pyrimidine metabolism		Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.
http://purl.obolibrary.org/obo/MONDO_0009113	hemolytic anemia due to diphosphoglycerate mutase deficiency	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0009130	Dyggve-Melchior-Clausen disease	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.
http://purl.obolibrary.org/obo/MONDO_0009134	congenital dyserythropoietic anemia type 2	http://purl.obolibrary.org/obo/MONDO_0019403	congenital dyserythropoietic anemia		Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.
http://purl.obolibrary.org/obo/MONDO_0009136	dyskeratosis congenita, autosomal recessive 1	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.
http://purl.obolibrary.org/obo/MONDO_0009143	Meier-Gorlin syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.
http://purl.obolibrary.org/obo/MONDO_0009152	ectopia lentis 2, isolated, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015998	isolated ectopia lentis		An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
http://purl.obolibrary.org/obo/MONDO_0009159	Ehlers-Danlos syndrome, cardiac valvular type	http://purl.obolibrary.org/obo/MONDO_0100606	COL1A2-related Ehlers-Danlos syndrome		A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
http://purl.obolibrary.org/obo/MONDO_0009165	Aicardi-Goutieres syndrome 1	http://purl.obolibrary.org/obo/MONDO_0700256	TREX1-related type 1 interferonopathy		Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.
http://purl.obolibrary.org/obo/MONDO_0009175	eosinophilic fasciitis	http://purl.obolibrary.org/obo/MONDO_0004830	fasciitis		Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.
http://purl.obolibrary.org/obo/MONDO_0009180	junctional epidermolysis bullosa, non-Herlitz type	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0009194	immunodeficiency 32B	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.
http://purl.obolibrary.org/obo/MONDO_0009203	focal facial dermal dysplasia type III	http://purl.obolibrary.org/obo/MONDO_0018363	focal facial dermal dysplasia		Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.
http://purl.obolibrary.org/obo/MONDO_0009206	factor V and factor VIII, combined deficiency of, type 1	http://purl.obolibrary.org/obo/MONDO_0018175	combined deficiency of factor V and factor VIII		Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.
http://purl.obolibrary.org/obo/MONDO_0009209	autosomal recessive faciodigitogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0021005	faciodigitogenital syndrome		Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
http://purl.obolibrary.org/obo/MONDO_0009211	congenital factor VII deficiency	http://purl.obolibrary.org/obo/MONDO_0015722	congenital vitamin K-dependent coagulation factors deficiency		Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.
http://purl.obolibrary.org/obo/MONDO_0009212	congenital factor X deficiency	http://purl.obolibrary.org/obo/MONDO_0015722	congenital vitamin K-dependent coagulation factors deficiency		Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.
http://purl.obolibrary.org/obo/MONDO_0009216	glycogen storage disease due to GLUT2 deficiency	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.
http://purl.obolibrary.org/obo/MONDO_0009226	fibrochondrogenesis 1	http://purl.obolibrary.org/obo/MONDO_0016068	fibrochondrogenesis		Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.
http://purl.obolibrary.org/obo/MONDO_0009227	myofibromatosis, infantile, 1	http://purl.obolibrary.org/obo/MONDO_0016824	infantile myofibromatosis		Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.
http://purl.obolibrary.org/obo/MONDO_0009234	congenital high-molecular-weight kininogen deficiency	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.
http://purl.obolibrary.org/obo/MONDO_0009235	familial benign flecked retina	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.
http://purl.obolibrary.org/obo/MONDO_0009249	hereditary fructose intolerance	http://purl.obolibrary.org/obo/MONDO_0800152	disorder of galactose and fructose metabolism		Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.
http://purl.obolibrary.org/obo/MONDO_0009258	classic galactosemia	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
http://purl.obolibrary.org/obo/MONDO_0009260	GM1 gangliosidosis type 1	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.
http://purl.obolibrary.org/obo/MONDO_0009268	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	http://purl.obolibrary.org/obo/MONDO_0018150	Gaucher disease		Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
http://purl.obolibrary.org/obo/MONDO_0009269	geleophysic dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0000127	geleophysic dysplasia		Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.
http://purl.obolibrary.org/obo/MONDO_0009273	hydatidiform mole, recurrent, 1	http://purl.obolibrary.org/obo/MONDO_0018944	gestational trophoblastic neoplasm		Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.
http://purl.obolibrary.org/obo/MONDO_0009287	glycogen storage disease due to glucose-6-phosphatase deficiency type IA	http://purl.obolibrary.org/obo/MONDO_0002413	glycogen storage disease I		Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.
http://purl.obolibrary.org/obo/MONDO_0009300	Perrault syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome		Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.
http://purl.obolibrary.org/obo/MONDO_0009312	lipodystrophy due to peptidic growth factors deficiency	http://purl.obolibrary.org/obo/MONDO_0020087	hereditary lipodystrophy		Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).
http://purl.obolibrary.org/obo/MONDO_0009979	reticular dystrophy of the retinal pigment epithelium	http://purl.obolibrary.org/obo/MONDO_0018973	patterned dystrophy of the retinal pigment epithelium		Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.
http://purl.obolibrary.org/obo/MONDO_0010505	intellectual disability-balding-patella luxation-acromicria syndrome	http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia		Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.
http://purl.obolibrary.org/obo/MONDO_0010589	Aarskog-Scott syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0021005	faciodigitogenital syndrome		Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
http://purl.obolibrary.org/obo/MONDO_0010602	hemophilia A	http://purl.obolibrary.org/obo/MONDO_0018660	hemophilia		The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
http://purl.obolibrary.org/obo/MONDO_0010639	laryngeal abductor paralysis-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Laryngeal abductor paralysis-intellectual disability syndrome is characterized by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.
http://purl.obolibrary.org/obo/MONDO_0010680	X-linked Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		X-linked form of Emery-Dreifuss muscular dystrophy.
http://purl.obolibrary.org/obo/MONDO_0010920	microtia	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.
http://purl.obolibrary.org/obo/MONDO_0010929	craniosynostosis 4	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.
http://purl.obolibrary.org/obo/MONDO_0011466	distal myopathy, Welander type	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.
http://purl.obolibrary.org/obo/MONDO_0011551	TH-deficient dopa-responsive dystonia	http://purl.obolibrary.org/obo/MONDO_0100064	tyrosine hydroxylase deficiency		Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
http://purl.obolibrary.org/obo/MONDO_0011979	adult-onset foveomacular vitelliform dystrophy	http://purl.obolibrary.org/obo/MONDO_0000390	vitelliform macular dystrophy		Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
http://purl.obolibrary.org/obo/MONDO_0013099	combined pituitary hormone deficiencies, genetic form	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
http://purl.obolibrary.org/obo/MONDO_0013360	brachyolmia, Maroteaux type	http://purl.obolibrary.org/obo/MONDO_0015262	brachyolmia		Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.
http://purl.obolibrary.org/obo/MONDO_0013648	familial progressive hyperpigmentation	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.
http://purl.obolibrary.org/obo/MONDO_0014452	familial dysfibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0018060	congenital fibrinogen deficiency		Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
http://purl.obolibrary.org/obo/MONDO_0014658	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	http://purl.obolibrary.org/obo/MONDO_0019685	FGFR3-related chondrodysplasia		A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).
http://purl.obolibrary.org/obo/MONDO_0014720	autosomal dominant optic atrophy plus syndrome	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.
http://purl.obolibrary.org/obo/MONDO_0015027	familial isolated hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.
http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal dominant form of complex hereditary spastic paraplegia.
http://purl.obolibrary.org/obo/MONDO_0015129	chronic primary adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0015128	primary adrenal insufficiency		A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
http://purl.obolibrary.org/obo/MONDO_0015134	constitutional neutropenia	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita	http://purl.obolibrary.org/obo/MONDO_0015225	arthrogryposis syndrome		Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
http://purl.obolibrary.org/obo/MONDO_0015185	intestinal polyposis syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.
http://purl.obolibrary.org/obo/MONDO_0015236	aortic arch defects	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.
http://purl.obolibrary.org/obo/MONDO_0015337	isolated craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		A craniosynostosis that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A craniosynostosis that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015355	distal hereditary motor neuropathy type 7	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
http://purl.obolibrary.org/obo/MONDO_0015358	hereditary motor and sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018894	distal hereditary motor neuropathy		Autosomal dominant form of distal hereditary motor neuropathy.
http://purl.obolibrary.org/obo/MONDO_0015369	Joubert syndrome and related disorders	http://purl.obolibrary.org/obo/MONDO_0020043	autosomal recessive congenital cerebellar ataxia		Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0015498	oromandibular-limb anomalies syndrome		Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0015387	nasolacrimal duct cyst	http://purl.obolibrary.org/obo/MONDO_0044984	nasolacrimal duct disorder		Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.
http://purl.obolibrary.org/obo/MONDO_0015448	mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
http://purl.obolibrary.org/obo/MONDO_0015461	short rib-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
http://purl.obolibrary.org/obo/MONDO_0015483	mandibulofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0015496	macroglossia	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
http://purl.obolibrary.org/obo/MONDO_0015524	hyperplastic polyposis syndrome	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		A syndrome that has a characteristic cluster of clinical features and/or lectroencephalographic (EEG) findings that reflect underlying epileptic activity. It is often associated with a range of other health issues, including cognitive impairment, intellectual disability, physical gross motor and fine motor delays, speech and language deficits, and impacts to other bodily functions and may be supported by specific etiological findings—such as structural, genetic, metabolic, immune, or infectious causes or have an unknown etiology.
http://purl.obolibrary.org/obo/MONDO_0015674	late infantile neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease		A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.
http://purl.obolibrary.org/obo/MONDO_0015736	intermediate nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0016194	neuromuscular disease caused by qualitative or quantitative defects of nebulin		Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.
http://purl.obolibrary.org/obo/MONDO_0015737	typical nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0016194	neuromuscular disease caused by qualitative or quantitative defects of nebulin		Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0017290	familial intrahepatic cholestasis		Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
http://purl.obolibrary.org/obo/MONDO_0015790	central diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0015127	pituitary deficiency		Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).
http://purl.obolibrary.org/obo/MONDO_0015791	peripheral precocious puberty	http://purl.obolibrary.org/obo/MONDO_0000088	precocious puberty		Precocious puberty caused by sex hormones.
http://purl.obolibrary.org/obo/MONDO_0015827	distal renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A kidney disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis is often associated with hypokalemia whereas acquired form may be associated with hypokalemia, hyperkalemia or normokalemia.
http://purl.obolibrary.org/obo/MONDO_0015884	autosomal dominant hypohidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016535	hypohidrotic ectodermal dysplasia		Autosomal dominant form of hypohidrotic ectodermal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0015903	hyperalphalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0037748	hyperlipoproteinemia		An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.
http://purl.obolibrary.org/obo/MONDO_0015905	syndromic dyslipidemia	http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder		A inherited lipid metabolism disorder that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015924	pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0005149	pulmonary hypertension		Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).
http://purl.obolibrary.org/obo/MONDO_0015951	hereditary photodermatosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.
http://purl.obolibrary.org/obo/MONDO_0015967	monogenic diabetes	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Diabetes mellitus that is caused by mutations in a single gene.
http://purl.obolibrary.org/obo/MONDO_0015990	focal, segmental or multifocal dystonia	http://purl.obolibrary.org/obo/MONDO_0015494	isolated dystonia		A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.
http://purl.obolibrary.org/obo/MONDO_0016060	laryngotracheoesophageal cleft	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.
http://purl.obolibrary.org/obo/MONDO_0016073	syndromic microphthalmia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A microphthalmia that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0016168	cryopyrin-associated periodic syndrome	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).
http://purl.obolibrary.org/obo/MONDO_0016198	neuromuscular disease caused by qualitative or quantitative defects of plectin	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		A neuromuscular disease caused by the qualitative or quantitative defects of plectin. It is characterized by muscular dystrophy.
http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005217	familial cardiomyopathy		A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.
http://purl.obolibrary.org/obo/MONDO_0016340	familial restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005217	familial cardiomyopathy		An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0016362	attenuated familial adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis		Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.
http://purl.obolibrary.org/obo/MONDO_0016365	familial primary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0021360	tumor of parathyroid gland		An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0016374	cranial neuralgia	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		A neuralgia that involves the cranial neuron projection bundle.
http://purl.obolibrary.org/obo/MONDO_0016390	familial hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0016165	hereditary hypoparathyroidism		A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.
http://purl.obolibrary.org/obo/MONDO_0016501	Hermansky-Pudlak syndrome with pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.
http://purl.obolibrary.org/obo/MONDO_0016558	familial congenital mirror movements	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.
http://purl.obolibrary.org/obo/MONDO_0016581	conotruncal heart malformations	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
http://purl.obolibrary.org/obo/MONDO_0016612	X-linked cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0100310	hereditary cerebellar ataxia		X-linked form of cerebellar ataxia.
http://purl.obolibrary.org/obo/MONDO_0016674	46,XY partial gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.
http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.
http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.
http://purl.obolibrary.org/obo/MONDO_0016785	complete hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0006248	hydatidiform mole		Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0016790	tricarboxylic acid cycle disorder	http://purl.obolibrary.org/obo/MONDO_0019243	inborn disorder of energy metabolism		An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.
http://purl.obolibrary.org/obo/MONDO_0016812	dopa-responsive dystonia	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.
http://purl.obolibrary.org/obo/MONDO_0016828	autosomal recessive sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0020099	inherited sideroblastic anemia		Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
http://purl.obolibrary.org/obo/MONDO_0016906	partial deletion of the long arm of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0016872	partial deletion of chromosome 7		Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016907	partial deletion of the long arm of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0016873	partial deletion of chromosome 8		Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016956	partial trisomy of the long arm of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0016925	partial trisomy/tetrasomy of chromosome 5		Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016994	microcephalic osteodysplastic primordial dwarfism types I and III	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.
http://purl.obolibrary.org/obo/MONDO_0017069	spina bifida cystica	http://purl.obolibrary.org/obo/MONDO_0019351	isolated spina bifida		A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.
http://purl.obolibrary.org/obo/MONDO_0017123	arthrogryposis-renal dysfunction-cholestasis syndrome	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
http://purl.obolibrary.org/obo/MONDO_0017219	microform holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.
http://purl.obolibrary.org/obo/MONDO_0017305	syndromic oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		A oculocutaneous albinism that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0017339	exfoliative ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.
http://purl.obolibrary.org/obo/MONDO_0017362	neuralgic amyotrophy	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.
http://purl.obolibrary.org/obo/MONDO_0017380	juvenile polyposis syndrome	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.
http://purl.obolibrary.org/obo/MONDO_0017569	de Barsy syndrome	http://purl.obolibrary.org/obo/MONDO_0019303	premature aging syndrome		A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
http://purl.obolibrary.org/obo/MONDO_0017604	marginal zone lymphoma	http://purl.obolibrary.org/obo/MONDO_0017594	indolent B-cell non-Hodgkin lymphoma		A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0017687	disorder of neutral amino acid transport	http://purl.obolibrary.org/obo/MONDO_0019216	inborn disorder of amino acid transport		An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.
http://purl.obolibrary.org/obo/MONDO_0017740	disorder of protein N-glycosylation	http://purl.obolibrary.org/obo/MONDO_0045010	glycoprotein metabolism disease		A disease that has its basis in the disruption of protein N-linked glycosylation.
http://purl.obolibrary.org/obo/MONDO_0017755	inborn disorder of bilirubin metabolism	http://purl.obolibrary.org/obo/MONDO_0024431	bilirubin metabolism disease		An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0017773	hypoalphalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.
http://purl.obolibrary.org/obo/MONDO_0017778	lamellar ichthyosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
http://purl.obolibrary.org/obo/MONDO_0017895	familial papillary or follicular thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0017896	familial nonmedullary thyroid carcinoma		A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.
http://purl.obolibrary.org/obo/MONDO_0017909	inherited glutathione synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0040566	inherited glutathione metabolism disease		Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
http://purl.obolibrary.org/obo/MONDO_0017953	hereditary periodic fever syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0017991	Takayasu arteritis	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
http://purl.obolibrary.org/obo/MONDO_0018037	hyper-IgE syndrome	http://purl.obolibrary.org/obo/MONDO_0002468	hyperimmunoglobulin syndrome		A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.
http://purl.obolibrary.org/obo/MONDO_0018065	isolated trigonocephaly	http://purl.obolibrary.org/obo/MONDO_0000156	trigonocephaly		Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.
http://purl.obolibrary.org/obo/MONDO_0018135	oculocutaneous albinism type 1	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
http://purl.obolibrary.org/obo/MONDO_0018149	GM1 gangliosidosis	http://purl.obolibrary.org/obo/MONDO_0017719	gangliosidosis		A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0018163	autosomal recessive cutis laxa type 2A	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/MONDO_0018178	intestinal lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies.
http://purl.obolibrary.org/obo/MONDO_0018213	hereditary sensory and autonomic neuropathy type 1	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
http://purl.obolibrary.org/obo/MONDO_0018266	ataxia - telangiectasia variant	http://purl.obolibrary.org/obo/MONDO_0020065	combined dystonia		Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
http://purl.obolibrary.org/obo/MONDO_0018502	hereditary gastric cancer	http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma		Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.
http://purl.obolibrary.org/obo/MONDO_0018554	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.
http://purl.obolibrary.org/obo/MONDO_0018561	precocious puberty in female	http://purl.obolibrary.org/obo/MONDO_0000088	precocious puberty		A precocious puberty that involves the female organism.
http://purl.obolibrary.org/obo/MONDO_0018781	KID syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.
http://purl.obolibrary.org/obo/MONDO_0018849	dentinogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.
http://purl.obolibrary.org/obo/MONDO_0018865	striate palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.
http://purl.obolibrary.org/obo/MONDO_0018881	myelodysplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0015756	myeloid hemopathy		A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0018923	22q11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
http://purl.obolibrary.org/obo/MONDO_0018925	familial or sporadic hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0005475	migraine with aura		Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).
http://purl.obolibrary.org/obo/MONDO_0018949	distal myopathy	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.
http://purl.obolibrary.org/obo/MONDO_0018956	idiopathic bronchiectasis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).
http://purl.obolibrary.org/obo/MONDO_0018999	LCAT deficiency	http://purl.obolibrary.org/obo/MONDO_0017773	hypoalphalipoproteinemia		LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
http://purl.obolibrary.org/obo/MONDO_0019098	autoimmune thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune form of thrombocytopenia.
http://purl.obolibrary.org/obo/MONDO_0019119	muscular channelopathy	http://purl.obolibrary.org/obo/MONDO_0019056	neuromuscular disease		A channelopathy that involves the muscle tissue.
http://purl.obolibrary.org/obo/MONDO_0019141	porokeratosis of Mibelli	http://purl.obolibrary.org/obo/MONDO_0006602	porokeratosis		Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.
http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.
http://purl.obolibrary.org/obo/MONDO_0019155	Leydig cell hypoplasia	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.
http://purl.obolibrary.org/obo/MONDO_0019161	pseudohypoaldosteronism type 1	http://purl.obolibrary.org/obo/MONDO_0100323	inherited pseudohypoaldosteronism		A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.
http://purl.obolibrary.org/obo/MONDO_0019162	pseudohypoaldosteronism type 2	http://purl.obolibrary.org/obo/MONDO_0100323	inherited pseudohypoaldosteronism		A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.
http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.
http://purl.obolibrary.org/obo/MONDO_0019211	isolated congenital anonychia	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.
http://purl.obolibrary.org/obo/MONDO_0019212	disseminated superficial actinic porokeratosis	http://purl.obolibrary.org/obo/MONDO_0006602	porokeratosis		Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
http://purl.obolibrary.org/obo/MONDO_0019220	inborn disorder of cobalamin metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0020696	vitamin B12 deficiency		An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.
http://purl.obolibrary.org/obo/MONDO_0019222	inborn disorder of methionine cycle and sulfur amino acid metabolism	http://purl.obolibrary.org/obo/MONDO_0056803	sulfur metabolism disease		An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019225	disorder of gluconeogenesis	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.
http://purl.obolibrary.org/obo/MONDO_0019226	glucose transport disorder	http://purl.obolibrary.org/obo/MONDO_0045015	carbohydrate transport disease		An inherited metabolic disease that is has its basis in the disruption of glucose transport.
http://purl.obolibrary.org/obo/MONDO_0019229	inborn disorder of ketolysis	http://purl.obolibrary.org/obo/MONDO_0019223	disorder of fatty acid and ketone body metabolism		An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.
http://purl.obolibrary.org/obo/MONDO_0019238	inborn disorder of pyrimidine metabolism	http://purl.obolibrary.org/obo/MONDO_0037937	pyrimidine metabolism disease		ANPM
http://purl.obolibrary.org/obo/MONDO_0019240	sterol biosynthesis disorder	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.
http://purl.obolibrary.org/obo/MONDO_0019261	infantile neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.
http://purl.obolibrary.org/obo/MONDO_0019270	erythrokeratoderma	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.
http://purl.obolibrary.org/obo/MONDO_0019276	inherited epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
http://purl.obolibrary.org/obo/MONDO_0019332	punctate palmoplantar keratoderma type 1	http://purl.obolibrary.org/obo/MONDO_0017675	punctate palmoplantar keratoderma		Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..
http://purl.obolibrary.org/obo/MONDO_0019452	myeloproliferative neoplasm, unclassifiable	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.
http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation	http://purl.obolibrary.org/obo/MONDO_0024239	congenital anomaly of cardiovascular system		A disease that has its basis in the disruption of heart development.
http://purl.obolibrary.org/obo/MONDO_0019572	autosomal recessive cutis laxa type 1	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
http://purl.obolibrary.org/obo/MONDO_0019628	Rieger anomaly	http://purl.obolibrary.org/obo/MONDO_0011119	iridogoniodysgenesis		Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.
http://purl.obolibrary.org/obo/MONDO_0019635	idiopathic achalasia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.
http://purl.obolibrary.org/obo/MONDO_0019667	spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
http://purl.obolibrary.org/obo/MONDO_0019716	overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.
http://purl.obolibrary.org/obo/MONDO_0019741	familial cystic renal disease	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0019754	multicentric Castleman disease	http://purl.obolibrary.org/obo/MONDO_0015564	Castleman disease		Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.
http://purl.obolibrary.org/obo/MONDO_0019854	thyroid ectopia	http://purl.obolibrary.org/obo/MONDO_0009043	generalized resistance to thyroid hormone		Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0019855	athyreosis	http://purl.obolibrary.org/obo/MONDO_0009043	generalized resistance to thyroid hormone		Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0019861	thyroid hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009043	generalized resistance to thyroid hormone		Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0019941	hereditary sensory and autonomic neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.
http://purl.obolibrary.org/obo/MONDO_0019982	bilateral multicystic dysplastic kidney	http://purl.obolibrary.org/obo/MONDO_0015988	multicystic dysplastic kidney		Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.
http://purl.obolibrary.org/obo/MONDO_0020072	childhood-onset epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome		A epilepsy syndrome that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0020087	hereditary lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0020108	autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia		Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.
http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100284	X-linked intellectual disability		A syndromic intellectual disability with an X-linked mode of inheritance.
http://purl.obolibrary.org/obo/MONDO_0020120	skeletal muscle disorder	http://purl.obolibrary.org/obo/MONDO_0003939	muscle tissue disorder		A disease involving the skeletal muscle tissue.
http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy	http://purl.obolibrary.org/obo/MONDO_0016105	acquired skeletal muscle disease		An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.
http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.
http://purl.obolibrary.org/obo/MONDO_0020153	cryptophthalmia	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.
http://purl.obolibrary.org/obo/MONDO_0020173	benign tumor of palpebral epidermis	http://purl.obolibrary.org/obo/MONDO_0021605	benign eyelid neoplasm		A benign neoplasm that involves the skin of eyelid.
http://purl.obolibrary.org/obo/MONDO_0020179	palpebral nevus	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		A melanocytic nevus that involves the skin of eyelid.
http://purl.obolibrary.org/obo/MONDO_0020250	autosomal dominant optic atrophy	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.
http://purl.obolibrary.org/obo/MONDO_0020337	congenital dyserythropoietic anemia type 1	http://purl.obolibrary.org/obo/MONDO_0019403	congenital dyserythropoietic anemia		Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.
http://purl.obolibrary.org/obo/MONDO_0020347	acute inflammatory demyelinating polyradiculoneuropathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS).
http://purl.obolibrary.org/obo/MONDO_0020478	Leber plus disease	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
http://purl.obolibrary.org/obo/MONDO_0020528	ACTH-dependent Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0957431	endogenous Cushing syndrome		A group of endogenous Cushing syndrome caused by abnormal production of ACTH due to pituitary adenoma or an extrapituitary tumor.
http://purl.obolibrary.org/obo/MONDO_0019726	type II mixed cryoglobulinemia	http://purl.obolibrary.org/obo/MONDO_0007407	Cryoglobulinemic vasculitis		Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).
http://purl.obolibrary.org/obo/MONDO_0019727	mixed cryoglobulinemia type III	http://purl.obolibrary.org/obo/MONDO_0007407	Cryoglobulinemic vasculitis		Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.
http://purl.obolibrary.org/obo/MONDO_0019736	dense deposit disease	http://purl.obolibrary.org/obo/MONDO_0018013	complement 3 glomerulopathy		A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.
http://purl.obolibrary.org/obo/MONDO_0019752	pediatric Castleman disease	http://purl.obolibrary.org/obo/MONDO_0015564	Castleman disease		Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.
http://purl.obolibrary.org/obo/MONDO_0019753	localized Castleman disease	http://purl.obolibrary.org/obo/MONDO_0015564	Castleman disease		Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.
http://purl.obolibrary.org/obo/MONDO_0019761	laryngotracheoesophageal cleft type 1	http://purl.obolibrary.org/obo/MONDO_0016060	laryngotracheoesophageal cleft		Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.
http://purl.obolibrary.org/obo/MONDO_0019762	laryngotracheoesophageal cleft type 2	http://purl.obolibrary.org/obo/MONDO_0016060	laryngotracheoesophageal cleft		Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.
http://purl.obolibrary.org/obo/MONDO_0019763	laryngotracheoesophageal cleft type 3	http://purl.obolibrary.org/obo/MONDO_0016060	laryngotracheoesophageal cleft		Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.
http://purl.obolibrary.org/obo/MONDO_0019764	laryngotracheoesophageal cleft type 4	http://purl.obolibrary.org/obo/MONDO_0016060	laryngotracheoesophageal cleft		Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.
http://purl.obolibrary.org/obo/MONDO_0019767	hamel cerebro-palato-cardiac syndrome	http://purl.obolibrary.org/obo/MONDO_0010653	Renpenning syndrome		Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
http://purl.obolibrary.org/obo/MONDO_0019768	X-linked intellectual disability, Golabi-Ito-hall type	http://purl.obolibrary.org/obo/MONDO_0010653	Renpenning syndrome		Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
http://purl.obolibrary.org/obo/MONDO_0019772	blepharospasm-oromandibular dystonia syndrome	http://purl.obolibrary.org/obo/MONDO_0015990	focal, segmental or multifocal dystonia		Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.
http://purl.obolibrary.org/obo/MONDO_0019780	anotia	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.
http://purl.obolibrary.org/obo/MONDO_0019786	severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14.
http://purl.obolibrary.org/obo/MONDO_0019789	cytophagic histiocytic panniculitis	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.
http://purl.obolibrary.org/obo/MONDO_0019802	secondary short bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0015183	short bowel syndrome		Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
http://purl.obolibrary.org/obo/MONDO_0019805	twin to twin transfusion syndrome	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated
http://purl.obolibrary.org/obo/MONDO_0019808	aortic valve atresia	http://purl.obolibrary.org/obo/MONDO_0017735	congenital aortic valve stenosis		A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.
http://purl.obolibrary.org/obo/MONDO_0019809	congenital aortic valve insufficiency	http://purl.obolibrary.org/obo/MONDO_0005648	aortic valve insufficiency		Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.
http://purl.obolibrary.org/obo/MONDO_0019814	straddling or overriding tricuspid valve	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.
http://purl.obolibrary.org/obo/MONDO_0019815	accessory tricuspid valve tissue	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.
http://purl.obolibrary.org/obo/MONDO_0019823	premature closure of the arterial duct	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.
http://purl.obolibrary.org/obo/MONDO_0019825	congenital coronary artery aneurysm	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.
http://purl.obolibrary.org/obo/MONDO_0019838	adenohypophysitis	http://purl.obolibrary.org/obo/MONDO_0024468	anterior pituitary gland disorder		A rare, acquired pituitary hormone deficiency characterized by an inflammation of anterior pituitary with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.
http://purl.obolibrary.org/obo/MONDO_0019839	panhypophysitis	http://purl.obolibrary.org/obo/MONDO_0021156	hypophysitis		A hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.
http://purl.obolibrary.org/obo/MONDO_0019840	acropectororenal dysplasia	http://purl.obolibrary.org/obo/MONDO_0015856	syndromic breast hypoplasia/aplasia		Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.
http://purl.obolibrary.org/obo/MONDO_0019846	acquired central diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0015790	central diabetes insipidus		Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.
http://purl.obolibrary.org/obo/MONDO_0019848	posterior hypospadias	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.
http://purl.obolibrary.org/obo/MONDO_0019857	congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies	http://purl.obolibrary.org/obo/MONDO_0016555	transient congenital hypothyroidism due to maternal factor		Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.
http://purl.obolibrary.org/obo/MONDO_0019858	idiopathic congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.
http://purl.obolibrary.org/obo/MONDO_0019860	thyroid hemiagenesis	http://purl.obolibrary.org/obo/MONDO_0009043	generalized resistance to thyroid hormone		Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0019865	mosaic trisomy 4	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.
http://purl.obolibrary.org/obo/MONDO_0019866	mosaic trisomy 5	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.
http://purl.obolibrary.org/obo/MONDO_0019868	mosaic trisomy 10	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.
http://purl.obolibrary.org/obo/MONDO_0019870	distal trisomy 1p36	http://purl.obolibrary.org/obo/MONDO_0017012	partial duplication of the short arm of chromosome 1		Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019871	distal trisomy 2p	http://purl.obolibrary.org/obo/MONDO_0016939	partial duplication of the short arm of chromosome 2		Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.
http://purl.obolibrary.org/obo/MONDO_0019872	distal trisomy 3p	http://purl.obolibrary.org/obo/MONDO_0016940	partial duplication of the short arm of chromosome 3		Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.
http://purl.obolibrary.org/obo/MONDO_0019873	4p16.3 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016941	partial duplication of the short arm of chromosome 4		4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019874	distal trisomy 7p	http://purl.obolibrary.org/obo/MONDO_0016944	partial duplication of the short arm of chromosome 7		Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.
http://purl.obolibrary.org/obo/MONDO_0019876	8p inverted duplication/deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0700015	chromosome 8 disorder		8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0019877	distal trisomy 2q	http://purl.obolibrary.org/obo/MONDO_0016953	partial duplication of the long arm of chromosome 2		Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.
http://purl.obolibrary.org/obo/MONDO_0019878	3q26 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016954	partial duplication of the long arm of chromosome 3		3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.
http://purl.obolibrary.org/obo/MONDO_0019879	distal trisomy 4q	http://purl.obolibrary.org/obo/MONDO_0016955	partial duplication of the long arm of chromosome 4		Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019880	distal trisomy 5q	http://purl.obolibrary.org/obo/MONDO_0016956	partial trisomy of the long arm of chromosome 5		Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).
http://purl.obolibrary.org/obo/MONDO_0019882	distal trisomy 8q	http://purl.obolibrary.org/obo/MONDO_0016959	partial duplication of the long arm of chromosome 8		Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).
http://purl.obolibrary.org/obo/MONDO_0019883	distal trisomy 9q	http://purl.obolibrary.org/obo/MONDO_0016960	partial trisomy of the long arm of chromosome 9		Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.
http://purl.obolibrary.org/obo/MONDO_0019886	distal trisomy 13q	http://purl.obolibrary.org/obo/MONDO_0022177	chromosome 13q trisomy		Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019887	distal trisomy 16q	http://purl.obolibrary.org/obo/MONDO_0016966	partial trisomy of the long arm of chromosome 16		Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019888	distal trisomy 20q	http://purl.obolibrary.org/obo/MONDO_0016970	partial trisomy of the long arm of chromosome 20		Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019889	distal trisomy 22q	http://purl.obolibrary.org/obo/MONDO_0016972	partial duplication of the long arm of chromosome 22		Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019890	non-distal trisomy 9q	http://purl.obolibrary.org/obo/MONDO_0016960	partial trisomy of the long arm of chromosome 9		Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019893	distal monosomy 19p13.3	http://purl.obolibrary.org/obo/MONDO_0016897	partial deletion of the short arm of chromosome 19		Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).
http://purl.obolibrary.org/obo/MONDO_0019898	distal monosomy 14q	http://purl.obolibrary.org/obo/MONDO_0016912	partial deletion of the long arm of chromosome 14		Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.
http://purl.obolibrary.org/obo/MONDO_0019902	monosomy 13q34	http://purl.obolibrary.org/obo/MONDO_0016911	partial deletion of the long arm of chromosome 13		Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0019910	maternal uniparental disomy of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
http://purl.obolibrary.org/obo/MONDO_0019911	maternal uniparental disomy of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
http://purl.obolibrary.org/obo/MONDO_0019912	maternal uniparental disomy of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
http://purl.obolibrary.org/obo/MONDO_0019913	silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).
http://purl.obolibrary.org/obo/MONDO_0019914	maternal uniparental disomy of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
http://purl.obolibrary.org/obo/MONDO_0019915	maternal uniparental disomy of chromosome 14	http://purl.obolibrary.org/obo/MONDO_0014541	motor developmental delay due to 14q32.2 paternally expressed gene defect		Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).
http://purl.obolibrary.org/obo/MONDO_0019917	maternal uniparental disomy of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.
http://purl.obolibrary.org/obo/MONDO_0019920	paternal uniparental disomy of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
http://purl.obolibrary.org/obo/MONDO_0019921	paternal uniparental disomy of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
http://purl.obolibrary.org/obo/MONDO_0019922	paternal uniparental disomy of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).
http://purl.obolibrary.org/obo/MONDO_0019924	paternal uniparental disomy of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.
http://purl.obolibrary.org/obo/MONDO_0019925	paternal uniparental disomy of chromosome 21	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
http://purl.obolibrary.org/obo/MONDO_0019926	X small rings	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.
http://purl.obolibrary.org/obo/MONDO_0019932	isolated partial vaginal agenesis	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.
http://purl.obolibrary.org/obo/MONDO_0019940	hypertrichosis-acromegaloid facial appearance syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.
http://purl.obolibrary.org/obo/MONDO_0019943	hereditary continuous muscle fiber activity	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.
http://purl.obolibrary.org/obo/MONDO_0019945	solar urticaria	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.
http://purl.obolibrary.org/obo/MONDO_0019951	rigid spine syndrome	http://purl.obolibrary.org/obo/MONDO_0016197	neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1		Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.
http://purl.obolibrary.org/obo/MONDO_0019955	GRFoma	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).
http://purl.obolibrary.org/obo/MONDO_0019957	PPoma	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).
http://purl.obolibrary.org/obo/MONDO_0019963	bronchial endocrine tumor	http://purl.obolibrary.org/obo/MONDO_0019496	neuroendocrine neoplasm		A neuroendocrine neoplasm that involves the bronchus.
http://purl.obolibrary.org/obo/MONDO_0019964	thymic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0019496	neuroendocrine neoplasm		Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.
http://purl.obolibrary.org/obo/MONDO_0019967	Kienbock disease	http://purl.obolibrary.org/obo/MONDO_0018381	osteochondrosis		Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.
http://purl.obolibrary.org/obo/MONDO_0019969	panner disease	http://purl.obolibrary.org/obo/MONDO_0018381	osteochondrosis		Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.
http://purl.obolibrary.org/obo/MONDO_0019970	Sinding-Larsen-Johansson disease	http://purl.obolibrary.org/obo/MONDO_0018381	osteochondrosis		Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella.
http://purl.obolibrary.org/obo/MONDO_0019973	persistent placoid maculopathy	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.
http://purl.obolibrary.org/obo/MONDO_0019977	parkinsonism with dementia of Guadeloupe	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.
http://purl.obolibrary.org/obo/MONDO_0019979	renal hypoplasia, unilateral	http://purl.obolibrary.org/obo/MONDO_0019637	renal hypoplasia		Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.
http://purl.obolibrary.org/obo/MONDO_0019980	renal hypoplasia, bilateral	http://purl.obolibrary.org/obo/MONDO_0019637	renal hypoplasia		Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.
http://purl.obolibrary.org/obo/MONDO_0019981	unilateral multicystic dysplastic kidney	http://purl.obolibrary.org/obo/MONDO_0015988	multicystic dysplastic kidney		Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.
http://purl.obolibrary.org/obo/MONDO_0019984	renal tubular dysgenesis due to twin-twin transfusion	http://purl.obolibrary.org/obo/MONDO_0017609	renal tubular dysgenesis		An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).
http://purl.obolibrary.org/obo/MONDO_0019988	pauci-immune glomerulonephritis with ANCA	http://purl.obolibrary.org/obo/MONDO_0019641	Pauci-immune glomerulonephritis		Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.
http://purl.obolibrary.org/obo/MONDO_0019989	pauci-immune glomerulonephritis without ANCA	http://purl.obolibrary.org/obo/MONDO_0019641	Pauci-immune glomerulonephritis		Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.
http://purl.obolibrary.org/obo/MONDO_0019990	non-amyloid fibrillary glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019605	immunotactoid or fibrillary glomerulopathy		Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.
http://purl.obolibrary.org/obo/MONDO_0019993	congenital renal artery stenosis	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A narrowing of renal arteries that is present since birth.
http://purl.obolibrary.org/obo/MONDO_0019994	maternal uniparental disomy of chromosome 13	http://purl.obolibrary.org/obo/MONDO_0700020	chromosome 13 disorder		Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
http://purl.obolibrary.org/obo/MONDO_0020007	absence of the pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.
http://purl.obolibrary.org/obo/MONDO_0020058	gonosome anomaly	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.
http://purl.obolibrary.org/obo/MONDO_0020077	myelodysplastic/myeloproliferative disease	http://purl.obolibrary.org/obo/MONDO_0015756	myeloid hemopathy		Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.
http://purl.obolibrary.org/obo/MONDO_0020110	pulmonary agenesis	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.
http://purl.obolibrary.org/obo/MONDO_0020172	palpebral epidermal tumor	http://purl.obolibrary.org/obo/MONDO_0002235	eyelid neoplasm		A neoplasm (disease) that involves the skin of eyelid.
http://purl.obolibrary.org/obo/MONDO_0020304	isochromosomy Yp	http://purl.obolibrary.org/obo/MONDO_0019935	isochromosome Y		Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.
http://purl.obolibrary.org/obo/MONDO_0020305	isochromosomy Yq	http://purl.obolibrary.org/obo/MONDO_0019935	isochromosome Y		Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.
http://purl.obolibrary.org/obo/MONDO_0020307	self-limited epilepsy with autonomic seizures	http://purl.obolibrary.org/obo/MONDO_0800502	childhood-onset self-limited focal epilepsy syndrome		A childhood-onset self-limited focal epilepsy syndrome characterized by the onset in early childhood of focal autonomic seizures that are often prolonged. The EEG commonly shows high amplitude focal spikes typically activated by sleep. Seizures are infrequent in most patients. Seizures are self-limiting with remission typically within a few years from onset.
http://purl.obolibrary.org/obo/MONDO_0020308	childhood occipital visual epilepsy	http://purl.obolibrary.org/obo/MONDO_0800502	childhood-onset self-limited focal epilepsy syndrome		A rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.
http://purl.obolibrary.org/obo/MONDO_0020317	acute myeloid leukemia with 11q23 abnormalities	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.
http://purl.obolibrary.org/obo/MONDO_0020321	acute undifferentiated leukemia	http://purl.obolibrary.org/obo/MONDO_0019460	acute leukemia of ambiguous lineage		A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.
http://purl.obolibrary.org/obo/MONDO_0020322	acute biphenotypic leukemia	http://purl.obolibrary.org/obo/MONDO_0020743	mixed phenotype acute leukemia		An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0020323	primary mediastinal large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0020324	intravascular large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0020332	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	http://purl.obolibrary.org/obo/MONDO_0016586	systemic mastocytosis		Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).
http://purl.obolibrary.org/obo/MONDO_0020338	adult pure red cell aplasia	http://purl.obolibrary.org/obo/MONDO_0001705	pure red-cell aplasia		Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.
http://purl.obolibrary.org/obo/MONDO_0020348	acute motor and sensory axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS).
http://purl.obolibrary.org/obo/MONDO_0020349	acute motor axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS).
http://purl.obolibrary.org/obo/MONDO_0020351	Blake pouch cyst	http://purl.obolibrary.org/obo/MONDO_0020134	cystic malformation of the posterior fossa		Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.
http://purl.obolibrary.org/obo/MONDO_0020352	multiple system atrophy, parkinsonian type	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).
http://purl.obolibrary.org/obo/MONDO_0020354	coloboma of choroid and retina	http://purl.obolibrary.org/obo/MONDO_0007350	coloboma, ocular, autosomal dominant		Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.
http://purl.obolibrary.org/obo/MONDO_0020356	coloboma of iris	http://purl.obolibrary.org/obo/MONDO_0007350	coloboma, ocular, autosomal dominant		A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.
http://purl.obolibrary.org/obo/MONDO_0020357	coloboma of eyelid	http://purl.obolibrary.org/obo/MONDO_0001476	coloboma		A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.
http://purl.obolibrary.org/obo/MONDO_0020362	inverse Marcus-Gunn phenomenon	http://purl.obolibrary.org/obo/MONDO_0007946	jaw-winking syndrome		Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.
http://purl.obolibrary.org/obo/MONDO_0020365	congenital hereditary endothelial dystrophy type I	http://purl.obolibrary.org/obo/MONDO_0020214	posterior corneal dystrophy		Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.
http://purl.obolibrary.org/obo/MONDO_0020368	Axenfeld anomaly	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.
http://purl.obolibrary.org/obo/MONDO_0020371	essential iris atrophy	http://purl.obolibrary.org/obo/MONDO_0018988	iridocorneal endothelial syndrome		Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.
http://purl.obolibrary.org/obo/MONDO_0020382	multifocal pattern dystrophy simulating fundus flavimaculatus	http://purl.obolibrary.org/obo/MONDO_0018973	patterned dystrophy of the retinal pigment epithelium		Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.
http://purl.obolibrary.org/obo/MONDO_0020383	fundus pulverulentus	http://purl.obolibrary.org/obo/MONDO_0018973	patterned dystrophy of the retinal pigment epithelium		Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.
http://purl.obolibrary.org/obo/MONDO_0020384	Niemann-Pick disease type E	http://purl.obolibrary.org/obo/MONDO_0001982	Niemann-Pick disease		Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.
http://purl.obolibrary.org/obo/MONDO_0020395	valvar pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0017865	congenital pulmonary valve stenosis		A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).
http://purl.obolibrary.org/obo/MONDO_0020396	anomaly of the tricuspid valve chordae	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.
http://purl.obolibrary.org/obo/MONDO_0020397	parachute tricuspid valve	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.
http://purl.obolibrary.org/obo/MONDO_0020398	congenital mitral stenosis	http://purl.obolibrary.org/obo/MONDO_0042966	inherited mitral valve disease		Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure.
http://purl.obolibrary.org/obo/MONDO_0020399	congenital hypoplasia of the mitral valve annulus	http://purl.obolibrary.org/obo/MONDO_0019817	congenital mitral valve insufficiency and/or stenosis		Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.
http://purl.obolibrary.org/obo/MONDO_0020400	congenital supravalvular mitral ring	http://purl.obolibrary.org/obo/MONDO_0019817	congenital mitral valve insufficiency and/or stenosis		Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.
http://purl.obolibrary.org/obo/MONDO_0020401	congenital unguarded mitral orifice	http://purl.obolibrary.org/obo/MONDO_0019817	congenital mitral valve insufficiency and/or stenosis		Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.
http://purl.obolibrary.org/obo/MONDO_0020402	congenital accessory mitral valve tissue	http://purl.obolibrary.org/obo/MONDO_0019817	congenital mitral valve insufficiency and/or stenosis		Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.
http://purl.obolibrary.org/obo/MONDO_0020403	congenital mitral valve agenesis	http://purl.obolibrary.org/obo/MONDO_0019817	congenital mitral valve insufficiency and/or stenosis		Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.
http://purl.obolibrary.org/obo/MONDO_0020404	shone complex	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.
http://purl.obolibrary.org/obo/MONDO_0020412	congenital patent ductus arteriosus aneurysm	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.
http://purl.obolibrary.org/obo/MONDO_0020413	encircling double aortic arch	http://purl.obolibrary.org/obo/MONDO_0015236	aortic arch defects		Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.
http://purl.obolibrary.org/obo/MONDO_0020415	Kommerell diverticulum	http://purl.obolibrary.org/obo/MONDO_0015236	aortic arch defects		Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.
http://purl.obolibrary.org/obo/MONDO_0020416	Neuhauser anomaly	http://purl.obolibrary.org/obo/MONDO_0015236	aortic arch defects		Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).
http://purl.obolibrary.org/obo/MONDO_0020417	right aortic arch	http://purl.obolibrary.org/obo/MONDO_0015236	aortic arch defects		An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.
http://purl.obolibrary.org/obo/MONDO_0020420	pulmonary branch stenosis	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Narrowing of the lumen of the right or left pulmonary artery branch.
http://purl.obolibrary.org/obo/MONDO_0020422	aortopulmonary coronary arterial course	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.
http://purl.obolibrary.org/obo/MONDO_0020424	intramural coronary arterial course	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.
http://purl.obolibrary.org/obo/MONDO_0020426	malposition of the coronary ostium	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.
http://purl.obolibrary.org/obo/MONDO_0020427	Laubry-Pezzi syndrome	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.
http://purl.obolibrary.org/obo/MONDO_0020431	juxtaposition of the atrial appendages	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.
http://purl.obolibrary.org/obo/MONDO_0020432	ectasia of the right atrial appendage	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.
http://purl.obolibrary.org/obo/MONDO_0020433	ectasia of the left appendage	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.
http://purl.obolibrary.org/obo/MONDO_0020437	atrial septal defect, ostium primum type	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		Atrioventricular septal defect with communication at the atrial level only.
http://purl.obolibrary.org/obo/MONDO_0020440	persistent left superior vena cava connecting to the left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0019829	congenital anomaly of superior vena cava		Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persistent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.
http://purl.obolibrary.org/obo/MONDO_0020441	right superior vena cava connecting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0019829	congenital anomaly of superior vena cava		Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.
http://purl.obolibrary.org/obo/MONDO_0020443	absence of innominate vein	http://purl.obolibrary.org/obo/MONDO_0019829	congenital anomaly of superior vena cava		Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0020444	subaortic course of innominate vein	http://purl.obolibrary.org/obo/MONDO_0019829	congenital anomaly of superior vena cava		Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.
http://purl.obolibrary.org/obo/MONDO_0020445	agenesis of the superior vena cava	http://purl.obolibrary.org/obo/MONDO_0019829	congenital anomaly of superior vena cava		Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.
http://purl.obolibrary.org/obo/MONDO_0020453	congenital partial pulmonary venous return anomaly	http://purl.obolibrary.org/obo/MONDO_0017705	congenital pulmonary venous return anomaly		Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.
http://purl.obolibrary.org/obo/MONDO_0020454	congenital complete agenesis of pericardium	http://purl.obolibrary.org/obo/MONDO_0017300	congenital pericardium anomaly		Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.
http://purl.obolibrary.org/obo/MONDO_0020455	congenital partial agenesis of pericardium	http://purl.obolibrary.org/obo/MONDO_0017300	congenital pericardium anomaly		Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.
http://purl.obolibrary.org/obo/MONDO_0020456	pleuro-pericardial cyst	http://purl.obolibrary.org/obo/MONDO_0017300	congenital pericardium anomaly		Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.
http://purl.obolibrary.org/obo/MONDO_0020458	hemolytic anemia due to erythrocyte adenosine deaminase overproduction	http://purl.obolibrary.org/obo/MONDO_0020584	anemia due to enzyme disorder		Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.
http://purl.obolibrary.org/obo/MONDO_0020462	tarsal kink syndrome	http://purl.obolibrary.org/obo/MONDO_0020159	congenital entropion		Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.
http://purl.obolibrary.org/obo/MONDO_0020463	isolated congenital ectropion	http://purl.obolibrary.org/obo/MONDO_0020161	congenital ectropion		A congenital ectropion that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0020464	euryblepharon	http://purl.obolibrary.org/obo/MONDO_0020161	congenital ectropion		Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.
http://purl.obolibrary.org/obo/MONDO_0020465	congenital eyelid retraction	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.
http://purl.obolibrary.org/obo/MONDO_0020468	paternal uniparental disomy of chromosome 13	http://purl.obolibrary.org/obo/MONDO_0700020	chromosome 13 disorder		Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
http://purl.obolibrary.org/obo/MONDO_0020469	48,XYYY syndrome	http://purl.obolibrary.org/obo/MONDO_0700028	chromosome Y disorder		48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.
http://purl.obolibrary.org/obo/MONDO_0020470	49,XYYYY syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.
http://purl.obolibrary.org/obo/MONDO_0020476	mesial temporal lobe epilepsy with hippocampal sclerosis	http://purl.obolibrary.org/obo/MONDO_0017704	familial partial epilepsy		Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.
http://purl.obolibrary.org/obo/MONDO_0020481	myotonia fluctuans	http://purl.obolibrary.org/obo/MONDO_0018959	potassium-aggravated myotonia		Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.
http://purl.obolibrary.org/obo/MONDO_0020482	myotonia permanens	http://purl.obolibrary.org/obo/MONDO_0018959	potassium-aggravated myotonia		Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).
http://purl.obolibrary.org/obo/MONDO_0020483	acetazolamide-responsive myotonia	http://purl.obolibrary.org/obo/MONDO_0018959	potassium-aggravated myotonia		Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
http://purl.obolibrary.org/obo/MONDO_0020485	King-Denborough syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.
http://purl.obolibrary.org/obo/MONDO_0020493	Haddad syndrome	http://purl.obolibrary.org/obo/MONDO_0021189	intestinal motility disease		Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.
http://purl.obolibrary.org/obo/MONDO_0020494	oculootodental syndrome	http://purl.obolibrary.org/obo/MONDO_0016910	partial deletion of the long arm of chromosome 11		Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.
http://purl.obolibrary.org/obo/MONDO_0020495	PEHO-like syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.
http://purl.obolibrary.org/obo/MONDO_0020497	Turcot syndrome with polyposis	http://purl.obolibrary.org/obo/MONDO_0021055	classic familial adenomatous polyposis		Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.
http://purl.obolibrary.org/obo/MONDO_0020499	Nipah virus disease	http://purl.obolibrary.org/obo/MONDO_0005785	henipavirus infectious disease		Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.
http://purl.obolibrary.org/obo/MONDO_0020505	ravine syndrome	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.
http://purl.obolibrary.org/obo/MONDO_0020507	leukoencephalopathy with vanishing white matter 1	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.
http://purl.obolibrary.org/obo/MONDO_0020509	secondary syringomyelia	http://purl.obolibrary.org/obo/MONDO_0017987	syringomyelia		Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.
http://purl.obolibrary.org/obo/MONDO_0020510	idiopathic syringomyelia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.
http://purl.obolibrary.org/obo/MONDO_0020513	spermatocytic seminoma	http://purl.obolibrary.org/obo/MONDO_0003669	testicular seminoma		A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.
http://purl.obolibrary.org/obo/MONDO_0020519	hand-Schuller-Christian disease	http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis		A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.
http://purl.obolibrary.org/obo/MONDO_0020520	adult pulmonary Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0017029	Langerhans cell histiocytosis specific to adulthood		Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.
http://purl.obolibrary.org/obo/MONDO_0020523	familial parathyroid adenoma	http://purl.obolibrary.org/obo/MONDO_0006890	parathyroid gland adenoma		An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0020530	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
http://purl.obolibrary.org/obo/MONDO_0020532	spirillary rat-bite fever	http://purl.obolibrary.org/obo/MONDO_0006941	rat-bite fever		Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.
http://purl.obolibrary.org/obo/MONDO_0020533	streptobacillary rat-bite fever	http://purl.obolibrary.org/obo/MONDO_0006941	rat-bite fever		Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.
http://purl.obolibrary.org/obo/MONDO_0020535	house allergic alveolitis	http://purl.obolibrary.org/obo/MONDO_0017853	hypersensitivity pneumonitis		A hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis.
http://purl.obolibrary.org/obo/MONDO_0020538	malignant dysgerminomatous germ cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0018171	malignant germ cell tumor of ovary		Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.
http://purl.obolibrary.org/obo/MONDO_0020541	maligant granulosa cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0020542	malignant Sertoli-Leydig cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0036595	ovarian Sertoli-Leydig cell tumor		Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occurring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.
http://purl.obolibrary.org/obo/MONDO_0020543	theca steroid-producing cell malignant tumor of ovary, not further specified	http://purl.obolibrary.org/obo/MONDO_0018172	malignant sex cord stromal tumor of ovary		Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.
http://purl.obolibrary.org/obo/MONDO_0020544	streptococcal toxic-shock syndrome	http://purl.obolibrary.org/obo/MONDO_0021680	streptococcal infection		Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.
http://purl.obolibrary.org/obo/MONDO_0020545	staphylococcal toxic-shock syndrome	http://purl.obolibrary.org/obo/MONDO_0017592	staphylococcal toxemia		Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.
http://purl.obolibrary.org/obo/MONDO_0020552	placental site trophoblastic tumor	http://purl.obolibrary.org/obo/MONDO_0018944	gestational trophoblastic neoplasm		Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.
http://purl.obolibrary.org/obo/MONDO_0020553	secondary pulmonary hemosiderosis	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography
http://purl.obolibrary.org/obo/MONDO_0020554	Heiner syndrome	http://purl.obolibrary.org/obo/MONDO_0020553	secondary pulmonary hemosiderosis		Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.
http://purl.obolibrary.org/obo/MONDO_0020555	pleuropulmonary blastoma type 1	http://purl.obolibrary.org/obo/MONDO_0011014	pleuropulmonary blastoma		A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.
http://purl.obolibrary.org/obo/MONDO_0020556	pleuropulmonary blastoma type 2	http://purl.obolibrary.org/obo/MONDO_0011014	pleuropulmonary blastoma		A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0020557	pleuropulmonary blastoma type 3	http://purl.obolibrary.org/obo/MONDO_0011014	pleuropulmonary blastoma		A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0020558	autosomal dominant Charcot-Marie-Tooth disease type 2K	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.
http://purl.obolibrary.org/obo/MONDO_0020559	O'Sullivan-McLeod syndrome	http://purl.obolibrary.org/obo/MONDO_0011224	monomelic amyotrophy		O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.
http://purl.obolibrary.org/obo/MONDO_0020567	apnea of prematurity	http://purl.obolibrary.org/obo/MONDO_0019092	infantile apnea		Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.
http://purl.obolibrary.org/obo/MONDO_0020569	intermediate DEND syndrome	http://purl.obolibrary.org/obo/MONDO_0019207	DEND syndrome		Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.
http://purl.obolibrary.org/obo/MONDO_0020572	complex regional pain syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0019369	complex regional pain syndrome		Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.
http://purl.obolibrary.org/obo/MONDO_0021009	salivary gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044964	oral cavity mucoepidermoid carcinoma		A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.
http://purl.obolibrary.org/obo/MONDO_0021010	skin lymphangiosarcoma	http://purl.obolibrary.org/obo/MONDO_0006414	skin sarcoma		A malignant vascular neoplasm of the skin arising from the lymphatic vessels.
http://purl.obolibrary.org/obo/MONDO_0021052	parasympathetic paraganglioma	http://purl.obolibrary.org/obo/MONDO_0044995	parasympathetic nervous system disorder		A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.
http://purl.obolibrary.org/obo/MONDO_0021054	bone sarcoma	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.
http://purl.obolibrary.org/obo/MONDO_0021303	adenoma of small intestine	http://purl.obolibrary.org/obo/MONDO_0006180	digestive system adenoma		A adenoma that involves the small intestine.
http://purl.obolibrary.org/obo/MONDO_0021312	malignant tumor of adrenal cortex	http://purl.obolibrary.org/obo/MONDO_0036591	adrenal cortex neoplasm		A cancer that involves the adrenal cortex.
http://purl.obolibrary.org/obo/MONDO_0021331	carcinoma of parotid gland	http://purl.obolibrary.org/obo/MONDO_0006284	major salivary gland carcinoma		A carcinoma that involves the parotid gland.
http://purl.obolibrary.org/obo/MONDO_0021335	carcinoma of duodenum	http://purl.obolibrary.org/obo/MONDO_0005522	small intestine carcinoma		A carcinoma that involves the duodenum.
http://purl.obolibrary.org/obo/MONDO_0021343	carcinoma of floor of mouth	http://purl.obolibrary.org/obo/MONDO_0021320	malignant tumor of floor of mouth		A carcinoma that involves the mouth floor.
http://purl.obolibrary.org/obo/MONDO_0021368	neoplasm of major salivary gland	http://purl.obolibrary.org/obo/MONDO_0021357	tumor of salivary gland		A neoplasm (disease) that involves the major salivary gland.
http://purl.obolibrary.org/obo/MONDO_0021392	polyp of large intestine	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		A polyp that involves the large intestine.
http://purl.obolibrary.org/obo/MONDO_0021396	polyp of vulva	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polyp that involves the mammalian vulva.
http://purl.obolibrary.org/obo/MONDO_0021398	polyp of rectum	http://purl.obolibrary.org/obo/MONDO_0001593	rectal disorder		A polyp that involves the rectum.
http://purl.obolibrary.org/obo/MONDO_0021400	polyp of colon	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		A polyp that involves the colon.
http://purl.obolibrary.org/obo/MONDO_0021416	polyp of gallbladder	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		A polyp that involves the gall bladder.
http://purl.obolibrary.org/obo/MONDO_0021439	benign neoplasm of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0021451	benign neoplasm of brain		A benign neoplasm that involves the pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0021454	benign neoplasm of eye	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		A benign neoplasm that involves the eye.
http://purl.obolibrary.org/obo/MONDO_0021460	benign neoplasm of salivary gland	http://purl.obolibrary.org/obo/MONDO_0021357	tumor of salivary gland		A benign neoplasm that involves the saliva-secreting gland.
http://purl.obolibrary.org/obo/MONDO_0021463	benign neoplasm of parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0021360	tumor of parathyroid gland		A benign neoplasm that involves the parathyroid gland.
http://purl.obolibrary.org/obo/MONDO_0021468	benign neoplasm of adrenal medulla	http://purl.obolibrary.org/obo/MONDO_0021237	adrenal medulla neoplasm		A benign neoplasm that involves the adrenal medulla.
http://purl.obolibrary.org/obo/MONDO_0021496	benign neoplasm of lip	http://purl.obolibrary.org/obo/MONDO_0021249	lip neoplasm		A benign neoplasm that involves the lip.
http://purl.obolibrary.org/obo/MONDO_0021498	benign neoplasm of placenta	http://purl.obolibrary.org/obo/MONDO_0021218	placenta neoplasm		A benign neoplasm that involves the placenta.
http://purl.obolibrary.org/obo/MONDO_0021535	pancreatic neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.
http://purl.obolibrary.org/obo/MONDO_0021659	combined carcinoid and adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells.
http://purl.obolibrary.org/obo/MONDO_0021661	coronary atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0005311	atherosclerosis		Atherosclerosis of the coronary vasculature.
http://purl.obolibrary.org/obo/MONDO_0021513	benign neoplasm of tonsil	http://purl.obolibrary.org/obo/MONDO_0021250	tonsil neoplasm		A benign neoplasm that involves the tonsil.
http://purl.obolibrary.org/obo/MONDO_0021516	benign neoplasm of glottis	http://purl.obolibrary.org/obo/MONDO_0002354	benign laryngeal neoplasm		A benign neoplasm that involves the glottis.
http://purl.obolibrary.org/obo/MONDO_0021518	benign neoplasm of hard palate	http://purl.obolibrary.org/obo/MONDO_0021445	benign neoplasm of oral cavity		A benign neoplasm that involves the hard palate.
http://purl.obolibrary.org/obo/MONDO_0021520	benign neoplasm of floor of mouth	http://purl.obolibrary.org/obo/MONDO_0021383	neoplasm of floor of mouth		A benign neoplasm that involves the mouth floor.
http://purl.obolibrary.org/obo/MONDO_0021528	benign neoplasm of male breast	http://purl.obolibrary.org/obo/MONDO_0000620	breast benign neoplasm		A non-metastasizing neoplasm that arises from the breast parenchyma in males.
http://purl.obolibrary.org/obo/MONDO_0021531	fibroma of lung	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		A fibroma that involves the lung.
http://purl.obolibrary.org/obo/MONDO_0021532	fibroma of prostate	http://purl.obolibrary.org/obo/MONDO_0021510	benign neoplasm of prostate		A fibroma that involves the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0021534	rectal neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0015068	rectal neuroendocrine tumor		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0021537	undifferentiated carcinoma of nasopharynx	http://purl.obolibrary.org/obo/MONDO_0015459	nasopharyngeal carcinoma		A undifferentiated carcinoma that involves the nasopharynx.
http://purl.obolibrary.org/obo/MONDO_0021538	verrucous carcinoma of oral cavity	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A verrucous carcinoma that involves the oral cavity.
http://purl.obolibrary.org/obo/MONDO_0021540	hamartoma of lung	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		A hamartoma (disease) that involves the lung.
http://purl.obolibrary.org/obo/MONDO_0021542	hemangioma of choroid	http://purl.obolibrary.org/obo/MONDO_0021487	benign neoplasm of choroid		A hemangioma that involves the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0021543	hemangioma of gingiva	http://purl.obolibrary.org/obo/MONDO_0021491	benign neoplasm of gum		A hemangioma that involves the gingiva.
http://purl.obolibrary.org/obo/MONDO_0021569	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020336	autosomal dominant Emery-Dreifuss muscular dystrophy		Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
http://purl.obolibrary.org/obo/MONDO_0021573	oocyte maturation defect 2	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.
http://purl.obolibrary.org/obo/MONDO_0021576	fallopian tube endometrioid tumor	http://purl.obolibrary.org/obo/MONDO_0021092	fallopian tube neoplasm		A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.
http://purl.obolibrary.org/obo/MONDO_0021588	eyelid sebaceous gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0006327	ocular sebaceous carcinoma		A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.
http://purl.obolibrary.org/obo/MONDO_0021607	eyelid seborrheic keratosis	http://purl.obolibrary.org/obo/MONDO_0008420	seborrheic keratosis		A seborrheic keratosis that involves the eyelid.
http://purl.obolibrary.org/obo/MONDO_0021627	eyelid capillary hemangioma	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A capillary hemangioma arising from the eyelid.
http://purl.obolibrary.org/obo/MONDO_0021633	cerebral astrocytoma	http://purl.obolibrary.org/obo/MONDO_0021631	brain astrocytoma		An astrocytoma that arises from the cerebral hemispheres.
http://purl.obolibrary.org/obo/MONDO_0021642	vulval varices	http://purl.obolibrary.org/obo/MONDO_0004869	pelvic varices		A varicose disease that involves the mammalian vulva.
http://purl.obolibrary.org/obo/MONDO_0021643	mesenteric varices	http://purl.obolibrary.org/obo/MONDO_0008638	varicose disease		A varicose disease that involves the mesentery.
http://purl.obolibrary.org/obo/MONDO_0021660	deep seated dermatophytosis	http://purl.obolibrary.org/obo/MONDO_0005982	tinea infection		A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.
http://purl.obolibrary.org/obo/MONDO_0024279	chronic endometritis	http://purl.obolibrary.org/obo/MONDO_0000918	endometritis		A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.
http://purl.obolibrary.org/obo/MONDO_0024290	enuresis	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).
http://purl.obolibrary.org/obo/MONDO_0024294	skin disorder caused by infection	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		Skin diseases caused by bacteria, fungi, parasites, or viruses.
http://purl.obolibrary.org/obo/MONDO_0024295	skin disease caused by bacterial infection	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Skin diseases caused by bacteria.
http://purl.obolibrary.org/obo/MONDO_0024298	vitamin deficiency disorder	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.
http://purl.obolibrary.org/obo/MONDO_0024300	hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0005520	rickets		Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
http://purl.obolibrary.org/obo/MONDO_0024301	acquired mineral metabolism disease	http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease		An instance of mineral metabolism disease that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0024302	internal hirudiniasis	http://purl.obolibrary.org/obo/MONDO_0044991	upper digestive tract disorder		A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.
http://purl.obolibrary.org/obo/MONDO_0024303	external hirudiniasis	http://purl.obolibrary.org/obo/MONDO_0002875	parasitic ectoparasitic infectious disease		The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.
http://purl.obolibrary.org/obo/MONDO_0024305	acquired hyperprolactinemia	http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease		An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0024306	acquired lactic acidosis	http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease		An instance of lactic acidosis that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0024311	cancer affecting bone of limb skeleton	http://purl.obolibrary.org/obo/MONDO_0002129	bone cancer		A cancer that involves the limb bone.
http://purl.obolibrary.org/obo/MONDO_0024314	parasitemia	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0024317	chronic pain syndrome	http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder		Chronic form of disorder involving pain.
http://purl.obolibrary.org/obo/MONDO_0024323	glomangiomyoma	http://purl.obolibrary.org/obo/MONDO_0018327	glomus tumor		A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.
http://purl.obolibrary.org/obo/MONDO_0024327	chronic renal failure syndrome	http://purl.obolibrary.org/obo/MONDO_0005300	chronic kidney disease		Impairment of the renal function due to chronic kidney damage.
http://purl.obolibrary.org/obo/MONDO_0024333	sciatica	http://purl.obolibrary.org/obo/MONDO_0021667	neuralgia		A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina.
http://purl.obolibrary.org/obo/MONDO_0024336	vulvar adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005215	vulvar carcinoma		An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.
http://purl.obolibrary.org/obo/MONDO_0024339	lymph node neoplasm	http://purl.obolibrary.org/obo/MONDO_0004928	lymph node disorder		A neoplasm involving a lymph node.
http://purl.obolibrary.org/obo/MONDO_0024280	polyarticular arthritis	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		An arthritis affecting five or more separate joints.
http://purl.obolibrary.org/obo/MONDO_0024281	juvenile chronic polyarthritis	http://purl.obolibrary.org/obo/MONDO_0024280	polyarticular arthritis		A group of conditions used to describe polyarthritis occurring in children.
http://purl.obolibrary.org/obo/MONDO_0024283	Demodex folliculitis	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		A demodicidosis that involves the hair follicle.
http://purl.obolibrary.org/obo/MONDO_0024284	demodicidosis of sebaceous gland	http://purl.obolibrary.org/obo/MONDO_0017280	demodicidosis		A demodicidosis that involves the sebaceous gland.
http://purl.obolibrary.org/obo/MONDO_0024287	congenital vascular malformation	http://purl.obolibrary.org/obo/MONDO_0024291	vascular malformation		A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.
http://purl.obolibrary.org/obo/MONDO_0024292	gastrointestinal polyp	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.
http://purl.obolibrary.org/obo/MONDO_0024309	neuropathy, hereditary sensory and autonomic, type 2A	http://purl.obolibrary.org/obo/MONDO_0019941	hereditary sensory and autonomic neuropathy type 2		A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13
http://purl.obolibrary.org/obo/MONDO_0024310	angiodysplasia of stomach	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		A angiodysplasia that involves the stomach.
http://purl.obolibrary.org/obo/MONDO_0024315	parasitic endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0020947	parasitic eye infection		Infection of the epicondyles by a parasite.
http://purl.obolibrary.org/obo/MONDO_0024316	physiological malfunction arising from mental factor	http://purl.obolibrary.org/obo/MONDO_0003117	somatoform disorder		A dysfunction in biological function that is due to a psychological process.
http://purl.obolibrary.org/obo/MONDO_0024325	cutaneous glomangiomyoma	http://purl.obolibrary.org/obo/MONDO_0002295	skin glomus tumor		A glomangiomyoma that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0024326	pleural adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0021457	benign neoplasm of pleura		A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.
http://purl.obolibrary.org/obo/MONDO_0024330	infectious otitis media	http://purl.obolibrary.org/obo/MONDO_0021666	ear infection		Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.
http://purl.obolibrary.org/obo/MONDO_0024332	perennial allergic rhinitis	http://purl.obolibrary.org/obo/MONDO_0011786	allergic rhinitis		Allergic rhinitis caused by indoor allergens and lasting year round.
http://purl.obolibrary.org/obo/MONDO_0024340	retinal neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0021231	retina neoplasm		A neuroblastoma arising from the retina.
http://purl.obolibrary.org/obo/MONDO_0024611	orbit neoplasm	http://purl.obolibrary.org/obo/MONDO_0024653	skull neoplasm		A benign or malignant neoplasm that affects the orbit.
http://purl.obolibrary.org/obo/MONDO_0024610	parasitic skin disorder	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.
http://purl.obolibrary.org/obo/HP_0031947	Tongue tremor	http://purl.obolibrary.org/obo/HP_0030188	Tremor by anatomical site		An unintentional, oscillating to-and-fro muscle movement affecting the tongue.
http://purl.obolibrary.org/obo/HP_0031980	Abnormal urine carboxylic acid level	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		Any deviation from the normal concentration of a carboxylic acid in the urine.
http://purl.obolibrary.org/obo/HP_0031983	Abnormal pulmonary thoracic imaging finding	http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology		This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.
http://purl.obolibrary.org/obo/HP_0032006	Lip tremor	http://purl.obolibrary.org/obo/HP_0030188	Tremor by anatomical site		An unintentional, oscillating to-and-fro muscle movement affecting the lip.
http://purl.obolibrary.org/obo/MONDO_0045003	scrotal disorder	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		A disease or disorder that involves the scrotum.
http://purl.obolibrary.org/obo/MONDO_0036976	benign epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0024633	hypertensive nephropathy	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.
http://purl.obolibrary.org/obo/MONDO_0024664	hypertension, pregnancy-induced	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		A hypertensive disorder that develops during pregnancy.
http://purl.obolibrary.org/obo/MONDO_0024945	hepatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Inflammation of the liver in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0024953	lameness, non-human animal	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		A departure from the normal gait in animals.
http://purl.obolibrary.org/obo/MONDO_0024954	larva migrans, visceral	http://purl.obolibrary.org/obo/MONDO_0018500	cutaneous larva migrans		A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.
http://purl.obolibrary.org/obo/MONDO_0024973	pneumonia, atypical interstitial, of cattle	http://purl.obolibrary.org/obo/MONDO_0005678	bovine respiratory disease complex		A cattle disease of uncertain cause, probably an allergic reaction.
http://purl.obolibrary.org/obo/MONDO_0025030	digital dermatitis in cattle	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease.
http://purl.obolibrary.org/obo/MONDO_0025062	encephalomyelitis, enzootic porcine	http://purl.obolibrary.org/obo/MONDO_0700210	enterovirus infectious disease, non-human animal		A picornavirus infection producing symptoms similar to poliomyelitis in pigs.
http://purl.obolibrary.org/obo/MONDO_0025085	hepatitis, viral, animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Inflammation of the liver in animals due to viral infection.
http://purl.obolibrary.org/obo/MONDO_0025102	monkey disease	http://purl.obolibrary.org/obo/MONDO_0025013	non-human primate disease		Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases).
http://purl.obolibrary.org/obo/MONDO_0025149	encephalopathy, bovine spongiform	http://purl.obolibrary.org/obo/MONDO_0700108	prion disease, non-human animal		A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)
http://purl.obolibrary.org/obo/MONDO_0025294	tick-borne infectious disease	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.
http://purl.obolibrary.org/obo/MONDO_0025371	Parvoviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Virus infections caused by the parvoviridae.
http://purl.obolibrary.org/obo/MONDO_0025382	sarcoma, avian	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses.
http://purl.obolibrary.org/obo/MONDO_0025389	brucellosis, bovine	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent.
http://purl.obolibrary.org/obo/MONDO_0025397	canine distemper	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species.
http://purl.obolibrary.org/obo/MONDO_0025417	fowlpox	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts.
http://purl.obolibrary.org/obo/MONDO_0025419	furunculosis, fish	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In salmonid fish (salmonids), the pathogen is Aeromonas salmonicida.
http://purl.obolibrary.org/obo/MONDO_0025425	hepatitis, infectious canine	http://purl.obolibrary.org/obo/MONDO_0024919	dog disease		A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.
http://purl.obolibrary.org/obo/MONDO_0025483	mammary neoplasms, animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Tumors or cancer of the mammary gland in animals (mammary glands, animal).
http://purl.obolibrary.org/obo/MONDO_0025487	murine acquired immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0024981	rodent disease		Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.
http://purl.obolibrary.org/obo/MONDO_0025489	enzootic bovine leukosis	http://purl.obolibrary.org/obo/MONDO_0700135	bovine leukemia		A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding.
http://purl.obolibrary.org/obo/MONDO_0030502	tetrasomy	http://purl.obolibrary.org/obo/MONDO_0700064	aneuploidy		A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.
http://purl.obolibrary.org/obo/MONDO_0030603	Klebsiella infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the genus KLEBSIELLA.
http://purl.obolibrary.org/obo/MONDO_0036696	spleen neoplasm	http://purl.obolibrary.org/obo/MONDO_0002334	hematopoietic and lymphoid system neoplasm		A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.
http://purl.obolibrary.org/obo/MONDO_0037252	thecoma	http://purl.obolibrary.org/obo/MONDO_0006055	sex cord-stromal tumor		An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.
http://purl.obolibrary.org/obo/MONDO_0037747	spinal injury	http://purl.obolibrary.org/obo/MONDO_0021178	injury		A injury that involves the vertebral column.
http://purl.obolibrary.org/obo/MONDO_0037792	carbohydrate metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A disease that has its basis in the disruption of carbohydrate metabolic process.
http://purl.obolibrary.org/obo/MONDO_0037938	inborn disorder of aspartate family metabolism	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.
http://purl.obolibrary.org/obo/MONDO_0042485	infective arthritis	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.
http://purl.obolibrary.org/obo/MONDO_0042488	Cestode infectious disease	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infections with true tapeworms of the helminth subclass Cestoda.
http://purl.obolibrary.org/obo/MONDO_0042489	disease susceptibility	http://purl.obolibrary.org/obo/BFO_0000016	disposition		A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.
http://purl.obolibrary.org/obo/MONDO_0042491	cervical squamous intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0022394	cervical intraepithelial neoplasia		A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.
http://purl.obolibrary.org/obo/MONDO_0042497	mycotoxicosis	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).
http://purl.obolibrary.org/obo/MONDO_0042981	aortic valve stenosis	http://purl.obolibrary.org/obo/MONDO_0003803	aortic valve disorder		Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever.
http://purl.obolibrary.org/obo/MONDO_0042982	GATA2 deficiency with susceptibility to MDS/AML	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).
http://purl.obolibrary.org/obo/MONDO_0043004	Weil's disease	http://purl.obolibrary.org/obo/MONDO_0005825	leptospirosis		A jauncice caused by severe leptospirosis.
http://purl.obolibrary.org/obo/MONDO_0043219	migraine with brainstem aura	http://purl.obolibrary.org/obo/MONDO_0005475	migraine with aura		A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.
http://purl.obolibrary.org/obo/MONDO_0043224	multi-infarct dementia	http://purl.obolibrary.org/obo/MONDO_0004648	vascular dementia		A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.
http://purl.obolibrary.org/obo/MONDO_0043226	postpartum amenorrhea-galactorrhea syndrome	http://purl.obolibrary.org/obo/MONDO_0044013	puerperal disorder		A postpartum condition consists of persistent lactation and amenorrhea in patients not breast feeding.
http://purl.obolibrary.org/obo/MONDO_0043230	ciguatera fish poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.
http://purl.obolibrary.org/obo/MONDO_0043237	glossodynia	http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder		Painful sensations in the tongue, including a sensation of burning.
http://purl.obolibrary.org/obo/MONDO_0043251	odontoma	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.
http://purl.obolibrary.org/obo/MONDO_0043277	mosaic trisomy 6	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).
http://purl.obolibrary.org/obo/MONDO_0043280	Wallerian degeneration	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.
http://purl.obolibrary.org/obo/MONDO_0043294	linear scleroderma	http://purl.obolibrary.org/obo/MONDO_0019562	localized scleroderma		A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.
http://purl.obolibrary.org/obo/MONDO_0043303	hyperacusis	http://purl.obolibrary.org/obo/MONDO_0021205	disorder of ear		A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.
http://purl.obolibrary.org/obo/MONDO_0043310	amaurosis fugax	http://purl.obolibrary.org/obo/MONDO_0001941	blindness (disorder)		Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)
http://purl.obolibrary.org/obo/MONDO_0043327	cerebrospinal fluid leak	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA).
http://purl.obolibrary.org/obo/MONDO_0043339	lathyrism	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.
http://purl.obolibrary.org/obo/MONDO_0043343	Chilaiditi syndrome	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.
http://purl.obolibrary.org/obo/MONDO_0043346	progressive transformation of germinal centers	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0043424	digestive system infectious disorder	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.
http://purl.obolibrary.org/obo/MONDO_0043452	chromosome 8, trisomy	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.
http://purl.obolibrary.org/obo/MONDO_0043465	achlorhydria	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		Absence of hydrochloric acid in the gastric juice.
http://purl.obolibrary.org/obo/MONDO_0043494	arteritis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		An inflammatory process affecting an artery.
http://purl.obolibrary.org/obo/MONDO_0043510	brain injury	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.
http://purl.obolibrary.org/obo/MONDO_0043519	burn	http://purl.obolibrary.org/obo/MONDO_0021178	injury		A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation.
http://purl.obolibrary.org/obo/MONDO_0043523	cadmium poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.
http://purl.obolibrary.org/obo/MONDO_0043537	cluster headache syndrome	http://purl.obolibrary.org/obo/MONDO_0015530	trigeminal autonomic cephalalgia		A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.
http://purl.obolibrary.org/obo/MONDO_0043549	crush syndrome	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.
http://purl.obolibrary.org/obo/MONDO_0043589	femoral neck fracture	http://purl.obolibrary.org/obo/MONDO_0005327	hip fracture		Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES.
http://purl.obolibrary.org/obo/MONDO_0043678	chromosome inversion disorder	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.
http://purl.obolibrary.org/obo/MONDO_0043693	alcoholic liver disease	http://purl.obolibrary.org/obo/MONDO_0021699	alcohol-induced disorders		A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.
http://purl.obolibrary.org/obo/MONDO_0043723	Monteggia's fracture	http://purl.obolibrary.org/obo/MONDO_0005322	ulna fracture		Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius.
http://purl.obolibrary.org/obo/MONDO_0043726	multiple organ dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult.
http://purl.obolibrary.org/obo/MONDO_0043731	lytic metastatic bone lesion	http://purl.obolibrary.org/obo/MONDO_0000837	bone resorption disease		Dissolution of bone that particularly involves the removal or loss of calcium.
http://purl.obolibrary.org/obo/MONDO_0043735	osteoradionecrosis	http://purl.obolibrary.org/obo/MONDO_0043459	radiation-induced disorder		Necrosis of bone following radiation injury.
http://purl.obolibrary.org/obo/MONDO_0043762	tubal pregnancy	http://purl.obolibrary.org/obo/MONDO_0002156	fallopian tube disorder		An abnormal pregnancy in which the conception is implanted in the fallopian tube.
http://purl.obolibrary.org/obo/MONDO_0043765	presbycusis	http://purl.obolibrary.org/obo/MONDO_0020678	sensorineural hearing loss disorder		Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.
http://purl.obolibrary.org/obo/MONDO_0043771	radiodermatitis	http://purl.obolibrary.org/obo/MONDO_0043459	radiation-induced disorder		A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.
http://purl.obolibrary.org/obo/MONDO_0043775	respiratory paralysis	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders.
http://purl.obolibrary.org/obo/MONDO_0043783	sclerema neonatorum	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.
http://purl.obolibrary.org/obo/MONDO_0043786	serositis	http://purl.obolibrary.org/obo/MONDO_0021166	inflammatory disease		Inflammation of a serous membrane.
http://purl.obolibrary.org/obo/MONDO_0043797	spinal cord injury	http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder		Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).
http://purl.obolibrary.org/obo/MONDO_0043836	tuberculosis, spinal	http://purl.obolibrary.org/obo/MONDO_0005962	skeletal tuberculosis		Tuberculosis of the vertebrae.
http://purl.obolibrary.org/obo/MONDO_0043862	voice disorders	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.
http://purl.obolibrary.org/obo/MONDO_0043892	prosthesis-related infectious disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.
http://purl.obolibrary.org/obo/MONDO_0043895	ankle injury	http://purl.obolibrary.org/obo/MONDO_0021178	injury		Harm or hurt to the ankle or ankle joint usually inflicted by an external source.
http://purl.obolibrary.org/obo/MONDO_0043904	leishmaniasis, diffuse cutaneous	http://purl.obolibrary.org/obo/MONDO_0005446	cutaneous leishmaniasis		A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.
http://purl.obolibrary.org/obo/MONDO_0043919	radiation pneumonitis	http://purl.obolibrary.org/obo/MONDO_0043905	pneumonitis		Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.
http://purl.obolibrary.org/obo/MONDO_0043953	burkholderia infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the genus Burkholderia.
http://purl.obolibrary.org/obo/MONDO_0043982	cubital tunnel syndrome	http://purl.obolibrary.org/obo/MONDO_0007006	ulnar neuropathy		Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)
http://purl.obolibrary.org/obo/MONDO_0043985	central nervous system lupus	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.
http://purl.obolibrary.org/obo/MONDO_0043994	acute cholecystitis	http://purl.obolibrary.org/obo/MONDO_0002155	cholecystitis		Acute inflammation of the gallbladder.
http://purl.obolibrary.org/obo/MONDO_0044033	posterior leukoencephalopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0006796	hypertensive encephalopathy		An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.
http://purl.obolibrary.org/obo/MONDO_0044067	candidiasis, invasive	http://purl.obolibrary.org/obo/MONDO_0002026	candidiasis		A fungal infection by any of the Candida species in a sterile body compartment.
http://purl.obolibrary.org/obo/MONDO_0044083	alternariosis	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		Opportunistic fungal infection by a member of Alternaria genus.
http://purl.obolibrary.org/obo/MONDO_0044098	ovarian ectopic pregnancy	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		An abnormal pregnancy in which the conception is implanted on the ovary.
http://purl.obolibrary.org/obo/MONDO_0044101	pregnancy, cornual	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.
http://purl.obolibrary.org/obo/MONDO_0044210	thalassemia minor	http://purl.obolibrary.org/obo/MONDO_0013517	beta-thalassemia HBB/LCRB		The inheritance of only one mutated beta-globin allele (beta+ or beta0).
http://purl.obolibrary.org/obo/MONDO_0044339	lumbar disk degenerative disorder	http://purl.obolibrary.org/obo/MONDO_0011385	intervertebral disk degenerative disorder		Any degenerative disorder affecting one or more vertebral disks of the lumbar spine.
http://purl.obolibrary.org/obo/MONDO_0044344	Schistosoma japonicum infectious disease	http://purl.obolibrary.org/obo/MONDO_0015254	schistosomiasis		An infection that is caused by Schistosoma japonicum.
http://purl.obolibrary.org/obo/MONDO_0044345	Schistosoma mansoni infectious disease	http://purl.obolibrary.org/obo/MONDO_0015254	schistosomiasis		An infection that is caused by Schistosoma mansoni.
http://purl.obolibrary.org/obo/MONDO_0044663	aquagenic palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.
http://purl.obolibrary.org/obo/MONDO_0044745	nervous system injury	http://purl.obolibrary.org/obo/MONDO_0021178	injury		Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.
http://purl.obolibrary.org/obo/MONDO_0044748	anaplasmosis in cattle	http://purl.obolibrary.org/obo/MONDO_0700201	tick-borne infectious disease, non-human animal		A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.
http://purl.obolibrary.org/obo/MONDO_0044793	spitz nevus	http://purl.obolibrary.org/obo/MONDO_0044794	benign melanocytic skin nevus		A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.
http://purl.obolibrary.org/obo/MONDO_0045013	disorder of extraembryonic membrane	http://purl.obolibrary.org/obo/MONDO_0005917	placenta disorder		A disease or disorder that involves the extraembryonic membrane.
http://purl.obolibrary.org/obo/MONDO_0045033	opportunistic systemic mycosis	http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis		A mycosis that arises from infection in an immunologically compromised host and is systemic.
http://purl.obolibrary.org/obo/MONDO_0045035	opportunistic infectious	http://purl.obolibrary.org/obo/MONDO_0045034	infectious disease characteristic		A characteristic of an infectious disease in which the disease affects an immunologically compromised host.
http://purl.obolibrary.org/obo/MONDO_0045036	primary infectious	http://purl.obolibrary.org/obo/MONDO_0045034	infectious disease characteristic		A characteristic of an infectious disease in which the disease affects an immunologically normal host.
http://purl.obolibrary.org/obo/MONDO_0100004	mast cell activation syndrome	http://purl.obolibrary.org/obo/MONDO_0004805	leukocyte disorder		A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).
http://purl.obolibrary.org/obo/MONDO_0100033	metabolic epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.
http://purl.obolibrary.org/obo/MONDO_0100039	CDKL5 disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A monogenic disease that has material basis in mutation in the CDKL5 gene.
http://purl.obolibrary.org/obo/MONDO_0024813	pulmonary sulcus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.
http://purl.obolibrary.org/obo/MONDO_0043009	hereditary lethal multiple congenital anomalies/dysmorphic syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0044202	episodic kinesigenic dyskinesia	http://purl.obolibrary.org/obo/MONDO_0015427	paroxysmal dyskinesia		Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.
http://purl.obolibrary.org/obo/MONDO_0044782	esophageal ulcer	http://purl.obolibrary.org/obo/MONDO_0043839	ulcer disease		An ulcerated lesion in the esophageal wall.
http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0037858	inherited fatty acid metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism		A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.
http://purl.obolibrary.org/obo/MONDO_0045052	benign osteogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0000654	benign connective and soft tissue neoplasm		A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.
http://purl.obolibrary.org/obo/MONDO_0100029	antibody mediated epilepsy	http://purl.obolibrary.org/obo/MONDO_0100028	immune epilepsy		An immune epilepsy where the underlying cause is antibody mediated.
http://purl.obolibrary.org/obo/MONDO_0100022	neonatal/infantile epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome		An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.
http://purl.obolibrary.org/obo/MONDO_0100028	immune epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.
http://purl.obolibrary.org/obo/MONDO_0024612	manic bipolar affective disorder	http://purl.obolibrary.org/obo/MONDO_0004985	bipolar disorder		The manic phase of bipolar disorder.
http://purl.obolibrary.org/obo/MONDO_0024613	bipolar depression	http://purl.obolibrary.org/obo/MONDO_0004985	bipolar disorder		The depressive stage of bipolar disorder.
http://purl.obolibrary.org/obo/MONDO_0024614	neurotic depression	http://purl.obolibrary.org/obo/MONDO_0002050	depressive disorder		A term used for any state of depression that is not psychotic.
http://purl.obolibrary.org/obo/MONDO_0024638	pancreatic gastrinoma	http://purl.obolibrary.org/obo/MONDO_0023206	functional pancreatic neuroendocrine tumor		A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.
http://purl.obolibrary.org/obo/MONDO_0024686	tenosynovial giant cell tumor, diffuse type	http://purl.obolibrary.org/obo/MONDO_0024715	benign synovial neoplasm		A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.
http://purl.obolibrary.org/obo/MONDO_0024880	metastatic malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0024883	metastatic neoplasm		A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.
http://purl.obolibrary.org/obo/MONDO_0024881	secondary malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0024882	secondary neoplasm		A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.
http://purl.obolibrary.org/obo/MONDO_0024889	benign mesonephroma	http://purl.obolibrary.org/obo/MONDO_0024888	mesonephric neoplasm		A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.
http://purl.obolibrary.org/obo/MONDO_0025512	type II hypersensitivity reaction disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A disease that has its basis in the disruption of type II hypersensitivity.
http://purl.obolibrary.org/obo/MONDO_0030708	Trichomonas cervicitis	http://purl.obolibrary.org/obo/MONDO_0002345	cervicitis		An cervicitis (disease) caused by infection with Trichomonas vaginalis.
http://purl.obolibrary.org/obo/MONDO_0037253	ovarian thecoma	http://purl.obolibrary.org/obo/MONDO_0021657	ovarian sex cord-stromal tumor		A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.
http://purl.obolibrary.org/obo/MONDO_0040654	autosomal dominant oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		Autosomal dominant form of oculocutaneous albinism.
http://purl.obolibrary.org/obo/MONDO_0040870	primary polydipsia	http://purl.obolibrary.org/obo/MONDO_0001162	impulse control disorder		A form of polydipsia characterized by excessive fluid intake in the absence of physiological stimuli to drink.
http://purl.obolibrary.org/obo/MONDO_0040871	psychogenic polydipsia	http://purl.obolibrary.org/obo/MONDO_0040870	primary polydipsia		A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.
http://purl.obolibrary.org/obo/MONDO_0040872	non-psychogenic polydipsia	http://purl.obolibrary.org/obo/MONDO_0040870	primary polydipsia		A form of primary polydipsia not caused by underlying psychiatric symptoms.
http://purl.obolibrary.org/obo/MONDO_0041114	peripheral ischemia	http://purl.obolibrary.org/obo/MONDO_0005386	peripheral arterial disease		Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.
http://purl.obolibrary.org/obo/MONDO_0041295	acute papillary necrosis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of kidney papillary necrosis.
http://purl.obolibrary.org/obo/MONDO_0041366	acute epiglottitis	http://purl.obolibrary.org/obo/MONDO_0005753	epiglottitis		Acute form of epiglottitis.
http://purl.obolibrary.org/obo/MONDO_0041403	toxic amblyopia	http://purl.obolibrary.org/obo/MONDO_0001019	suppression amblyopia		A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.
http://purl.obolibrary.org/obo/MONDO_0041656	ST-elevation myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0004781	acute myocardial infarction		A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.
http://purl.obolibrary.org/obo/MONDO_0041751	multibacillary leprosy	http://purl.obolibrary.org/obo/MONDO_0005124	leprosy		A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.
http://purl.obolibrary.org/obo/MONDO_0041752	paucibacillary leprosy	http://purl.obolibrary.org/obo/MONDO_0005124	leprosy		A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.
http://purl.obolibrary.org/obo/MONDO_0041879	staphylococcus aureus pneumonia	http://purl.obolibrary.org/obo/MONDO_0005970	staphylococcal pneumonia		An pneumonia caused by infection with Staphylococcus aureus.
http://purl.obolibrary.org/obo/MONDO_0042451	endomyometritis	http://purl.obolibrary.org/obo/MONDO_0010888	adenomyosis		An inflammation of the endometrium and the myometrium.
http://purl.obolibrary.org/obo/MONDO_0043512	traumatic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Encephalopathy resulting from trauma.
http://purl.obolibrary.org/obo/MONDO_0044141	panic disorder without agoraphobia	http://purl.obolibrary.org/obo/MONDO_0005383	panic disorder		A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.
http://purl.obolibrary.org/obo/MONDO_0044144	panic disorder with agoraphobia	http://purl.obolibrary.org/obo/MONDO_0005383	panic disorder		A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.
http://purl.obolibrary.org/obo/MONDO_0044204	Shwachman-Diamond syndrome 1	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene.
http://purl.obolibrary.org/obo/MONDO_0044207	specific granule deficiency 1	http://purl.obolibrary.org/obo/MONDO_0009506	specific granule deficiency		Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.
http://purl.obolibrary.org/obo/MONDO_0044300	familial adenomatous polyposis 4	http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis		An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.
http://purl.obolibrary.org/obo/MONDO_0044333	alcohol-induced Wernicke-Korsakoff's syndrome	http://purl.obolibrary.org/obo/MONDO_0021702	alcohol amnestic disorder		A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.
http://purl.obolibrary.org/obo/MONDO_0044619	propylthiouracil embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).
http://purl.obolibrary.org/obo/MONDO_0044621	16p12.1p12.3 triplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016949	partial duplication of the short arm of chromosome 16		16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.
http://purl.obolibrary.org/obo/MONDO_0044638	hypopharynx squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005216	hypopharyngeal carcinoma		A squamous cell carcinoma that involves the hypopharynx.
http://purl.obolibrary.org/obo/MONDO_0044645	familial monosomy 7 syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.
http://purl.obolibrary.org/obo/MONDO_0044687	chronic relapsing inflammatory optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0044685	autoimmune/inflammatory optic neuropathy		A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.
http://purl.obolibrary.org/obo/MONDO_0044688	isolated optic neuritis	http://purl.obolibrary.org/obo/MONDO_0044685	autoimmune/inflammatory optic neuropathy		A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disk appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.
http://purl.obolibrary.org/obo/MONDO_0044689	recurrent idiopathic neuroretinitis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.
http://purl.obolibrary.org/obo/MONDO_0044719	erythema multiforme major	http://purl.obolibrary.org/obo/MONDO_0017396	toxic dermatosis		A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.
http://purl.obolibrary.org/obo/MONDO_0044720	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.
http://purl.obolibrary.org/obo/MONDO_0044763	diarrheal disease secondary to decreased bowel motility	http://purl.obolibrary.org/obo/MONDO_0000251	diarrheal disease secondary to altered bowel motility		A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion.
http://purl.obolibrary.org/obo/MONDO_0044776	premature ovarian failure 10	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).
http://purl.obolibrary.org/obo/MONDO_0044783	solid papillary breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003532	breast papillary carcinoma		A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.
http://purl.obolibrary.org/obo/MONDO_0044784	myxoma	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.
http://purl.obolibrary.org/obo/MONDO_0044785	desmoplastic melanoma	http://purl.obolibrary.org/obo/MONDO_0020663	malignant spindle cell neoplasm		A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.
http://purl.obolibrary.org/obo/MONDO_0044786	solid pseudopapillary neoplasm of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002116	malignant exocrine pancreas neoplasm		A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.
http://purl.obolibrary.org/obo/MONDO_0044788	perihilar intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003210	intrahepatic cholangiocarcinoma		An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.
http://purl.obolibrary.org/obo/MONDO_0044791	combined hepatocellular carcinoma and cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018536	adenocarcinoma of gallbladder and extrahepatic biliary tract		A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.
http://purl.obolibrary.org/obo/MONDO_0044796	spindle cell nevus	http://purl.obolibrary.org/obo/MONDO_0044793	spitz nevus		A nevus characterized by the presence of spindle-shaped melanocytes.
http://purl.obolibrary.org/obo/MONDO_0044811	idiopathic torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Torsion dystonia for which no underlying cause has been identified.
http://purl.obolibrary.org/obo/MONDO_0044816	familial idiopathic torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0044811	idiopathic torsion dystonia		An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0044817	acquired idiopathic torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0044811	idiopathic torsion dystonia		An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0044873	childhood myelodysplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0018881	myelodysplastic syndrome		An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.
http://purl.obolibrary.org/obo/MONDO_0044874	refractory cytopenia of childhood	http://purl.obolibrary.org/obo/MONDO_0004111	refractory hematologic cancer		The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0044875	coronary microvascular disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.
http://purl.obolibrary.org/obo/MONDO_0044877	paraneoplastic cerebellar degeneration	http://purl.obolibrary.org/obo/MONDO_0018215	paraneoplastic neurologic syndrome		A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.
http://purl.obolibrary.org/obo/MONDO_0044879	pancreatic mucinous-cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0044880	cystic tumor of the pancreas		A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.
http://purl.obolibrary.org/obo/MONDO_0044903	myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003
http://purl.obolibrary.org/obo/MONDO_0044917	T-lymphoblastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0015760	T-cell non-Hodgkin lymphoma		The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0044956	paranasal sinus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003036	mucoepidermoid carcinoma		A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.
http://purl.obolibrary.org/obo/MONDO_0045053	osteogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002616	mesenchymal cell neoplasm		A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.
http://purl.obolibrary.org/obo/MONDO_0054740	blepharocheilodontic syndrome 1	http://purl.obolibrary.org/obo/MONDO_0007339	blepharocheilodontic syndrome		Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.
http://purl.obolibrary.org/obo/MONDO_0054835	classic dopamine transporter deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0700117	SLC6A3-related dopamine transporter deficiency syndrome		Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.
http://purl.obolibrary.org/obo/MONDO_0056805	benign peripheral nerve granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0003250	benign granular cell tumor		A benign granular cell tumor that involves the nerve.
http://purl.obolibrary.org/obo/MONDO_0056813	hormone-resistant breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		Breast carcinoma that does not respond to hormone therapy.
http://purl.obolibrary.org/obo/MONDO_0056814	hormone-resistant prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_0005159	prostate carcinoma		Prostate carcinoma that does not respond to hormone therapy.
http://purl.obolibrary.org/obo/MONDO_0056817	rectal adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0018515	squamous cell carcinoma of rectum		An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.
http://purl.obolibrary.org/obo/MONDO_0056818	skin adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006074	adenosquamous carcinoma		An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.
http://purl.obolibrary.org/obo/MONDO_0056819	nasal cavity and paranasal sinus carcinoma	http://purl.obolibrary.org/obo/MONDO_0002038	head and neck carcinoma		A carcinoma arising from the nasal cavity or paranasal sinuses.
http://purl.obolibrary.org/obo/MONDO_0056820	nasal cavity and paranasal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0060490	neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0060582	auditory neuropathy-optic atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by onset of visual and hearing impairment in the first or second decades.
http://purl.obolibrary.org/obo/MONDO_0060622	neurodevelopmental disorder with severe motor impairment and absent language	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual disability, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility
http://purl.obolibrary.org/obo/MONDO_0060627	glycosylphosphatidylinositol biosynthesis defect 15	http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis		A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.
http://purl.obolibrary.org/obo/MONDO_0060763	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.
http://purl.obolibrary.org/obo/MONDO_0100006	secondary mast cell activation syndrome	http://purl.obolibrary.org/obo/MONDO_0100004	mast cell activation syndrome		Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.
http://purl.obolibrary.org/obo/MONDO_0100008	food protein-induced enterocolitis syndrome	http://purl.obolibrary.org/obo/MONDO_0009172	enterocolitis		An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.
http://purl.obolibrary.org/obo/MONDO_0100011	tendinosis	http://purl.obolibrary.org/obo/MONDO_0100010	disease of the tendon		The chronic degeneration of a tendon without inflammation.
http://purl.obolibrary.org/obo/MONDO_0100012	paratenonitis	http://purl.obolibrary.org/obo/MONDO_0004857	tendinitis		Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.
http://purl.obolibrary.org/obo/MONDO_0100013	paratenonitis with tendinosis	http://purl.obolibrary.org/obo/MONDO_0100012	paratenonitis		Paratenonitis associated with intratendinous degeneration.
http://purl.obolibrary.org/obo/MONDO_0100020	atypical childhood epilepsy with centrotemporal spikes	http://purl.obolibrary.org/obo/MONDO_0020072	childhood-onset epilepsy syndrome		A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.
http://purl.obolibrary.org/obo/MONDO_0100021	photosensitive occipital lobe epilepsy	http://purl.obolibrary.org/obo/MONDO_0800502	childhood-onset self-limited focal epilepsy syndrome		A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.
http://purl.obolibrary.org/obo/MONDO_0100023	self-limited familial neonatal epilepsy	http://purl.obolibrary.org/obo/MONDO_0100207	infantile-onset epilepsy		A neonatal/infantile epilepsy syndrome that is characterized by the onset of seizures that start in the in the neonate between day 1 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have typical developmental progress.
http://purl.obolibrary.org/obo/MONDO_0100024	self-limited familial infantile epilepsy	http://purl.obolibrary.org/obo/MONDO_0100207	infantile-onset epilepsy		This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.
http://purl.obolibrary.org/obo/MONDO_0100026	myoclonic encephalopathy in non-progressive disorder	http://purl.obolibrary.org/obo/MONDO_0100022	neonatal/infantile epilepsy syndrome		This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.
http://purl.obolibrary.org/obo/MONDO_0100034	cerebral folate deficiency	http://purl.obolibrary.org/obo/MONDO_0005528	inborn vitamin metabolic disorder		Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0100051	idiopathic mast cell activation syndrome	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.
http://purl.obolibrary.org/obo/MONDO_0100078	resistant hypertension	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatment with 3 or more antihypertensive drugs including diuretics are ineffective.
http://purl.obolibrary.org/obo/HP_0032599	Abnormal renal tubular epithelial morphology	http://purl.obolibrary.org/obo/HP_0000091	Abnormal renal tubule morphology		Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.
http://purl.obolibrary.org/obo/MONDO_0025193	oculopharyngodistal myopathy	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.
http://purl.obolibrary.org/obo/MONDO_0100128	coinfection	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		The simultaneous infection of a host by multiple pathogen species.
http://purl.obolibrary.org/obo/MONDO_0100133	mitochondrial complex I deficiency	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.
http://purl.obolibrary.org/obo/MONDO_0100151	nephropathic cystinosis	http://purl.obolibrary.org/obo/MONDO_0016239	cystinosis		An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.
http://purl.obolibrary.org/obo/MONDO_0100164	permanent neonatal diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis		Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
http://purl.obolibrary.org/obo/MONDO_0100147	SATB2 associated disorder	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.
http://purl.obolibrary.org/obo/FOODON_00003374	harvested food material	http://purl.obolibrary.org/obo/FOODON_00002645	food material by process		Organism food material that has been harvested.
http://purl.obolibrary.org/obo/FOODON_00003402	pre-harvest food material	http://purl.obolibrary.org/obo/FOODON_00002454	food material by characteristic		Organism food material which has not reached harvestable maturity.
http://purl.obolibrary.org/obo/MONDO_0020801	rectal medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0002169	rectum adenocarcinoma		A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.
http://purl.obolibrary.org/obo/ECTO_0400000	exposure to environmental layer	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to layer.
http://purl.obolibrary.org/obo/ECTO_0500025	exposure to manufactured product	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to manufactured product.
http://purl.obolibrary.org/obo/ECTO_0600000	exposure to environmental system	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to environmental system.
http://purl.obolibrary.org/obo/ECTO_3000005	exposure to humans	http://purl.obolibrary.org/obo/ECTO_3000000	exposure to organism		A history of exposure to Homo sapiens.
http://purl.obolibrary.org/obo/ECTO_4000024	exposure to increased air pressure	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to increased amount of pressure of air.
http://purl.obolibrary.org/obo/ECTO_4000033	exposure to decreased water pressure	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of water.
http://purl.obolibrary.org/obo/ECTO_4000034	exposure to increased air temperature	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to increased amount of temperature of air.
http://purl.obolibrary.org/obo/ECTO_4000035	exposure to increased water pressure	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to increased amount of pressure of water.
http://purl.obolibrary.org/obo/ECTO_4000036	exposure to decreased air pressure	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of air.
http://purl.obolibrary.org/obo/HP_0034241	Prenatal death	http://purl.obolibrary.org/obo/HP_0011420	Age of death		Death of a fetus in the uterus.
http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site	http://purl.obolibrary.org/obo/MAXO_0000002	therapeutic procedure		All manners of treatment to relieve illness and injury of a particular body site or system.
http://purl.obolibrary.org/obo/MAXO_0001443	therapeutic procedure of organ	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring organ back to its normal state.
http://purl.obolibrary.org/obo/FOODON_00004328	organism piece	http://purl.obolibrary.org/obo/FOODON_03420116	organism material		A piece or pieces or amount of substance derived from one or more organisms.
http://purl.obolibrary.org/obo/FOODON_00004331	plant material	http://purl.obolibrary.org/obo/FOODON_03420116	organism material		Anatomical or other piece(s) or substance derived from one or more plants.
http://purl.obolibrary.org/obo/FOODON_00004332	piece of animal	http://purl.obolibrary.org/obo/FOODON_03420164	animal material		A severed part of an animal.
http://purl.obolibrary.org/obo/FOODON_00004333	plant piece	http://purl.obolibrary.org/obo/FOODON_00004331	plant material		An anatomical or other piece derived from a plant.
http://purl.obolibrary.org/obo/FOODON_00004336	fungus material	http://purl.obolibrary.org/obo/FOODON_03420116	organism material		Material which derives from one or more fungai.
http://purl.obolibrary.org/obo/MONDO_0700232	KIZ-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the KIZ gene.
http://purl.obolibrary.org/obo/MONDO_0700236	BBS9-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the BBS9 gene.
http://purl.obolibrary.org/obo/MONDO_0700237	BBS10-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the BBS10 gene.
http://purl.obolibrary.org/obo/MONDO_0700242	IMPG2-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a heterozygous variant in the IMPG2 gene.
http://purl.obolibrary.org/obo/MONDO_0800467	dyskeratosis congenita and related telomere biology disorder	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
http://purl.obolibrary.org/obo/MONDO_0100533	hemorrhage, intracerebral, susceptibility to	http://purl.obolibrary.org/obo/MONDO_1010150	COL4A1/A2-related disorder		An inherited disease susceptibility or predisposition to developing intracerebral hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0700246	ocular dysgenesis caused by defects in PAX6 regulation	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.
http://purl.obolibrary.org/obo/MONDO_0800452	congenital amegakaryocytic thrombocytopenia 1	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
http://purl.obolibrary.org/obo/ENVO_01001828	anthropised ecosystem	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		An ecosystem which is formed as a result of human activity or impact.
http://purl.obolibrary.org/obo/ENVO_01001829	human settlement	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		An anthropised ecosystem which is determined by the presence of humans and their constructions.
http://purl.obolibrary.org/obo/MAXO_0001575	steroid agent therapy	http://purl.obolibrary.org/obo/MAXO_0000169	anti-inflammatory agent therapy		Treatment with a class of steroid hormones.
http://purl.obolibrary.org/obo/MONDO_1040022	linkeropathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region.
http://purl.obolibrary.org/obo/MONDO_1012967	liver disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		Liver disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012972	hereditary neurological disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Hereditary neurological disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0800488	neonatal/infantile-onset self-limited epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100022	neonatal/infantile epilepsy syndrome		An epilepsy syndrome characterized by the onset of seizures in neonates/infants where there is a high likelihood of spontaneously remitting at a predictable age.
http://purl.obolibrary.org/obo/MONDO_0100614	syndromic congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease		Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions.
http://purl.obolibrary.org/obo/MONDO_0100610	autism spectrum disorder 1	http://purl.obolibrary.org/obo/MONDO_0005258	autism spectrum disorder		The mildest form of autism spectrum disorder, characterized by difficulties with social communication and restricted, repetitive behaviors, requiring minimal support for daily functioning.
http://purl.obolibrary.org/obo/MONDO_0100611	autism spectrum disorder 2	http://purl.obolibrary.org/obo/MONDO_0005258	autism spectrum disorder		A moderate form of autism spectrum disorder marked by more significant challenges in social communication and more noticeable restricted, repetitive behaviors, requiring substantial support for daily functioning.
http://purl.obolibrary.org/obo/MONDO_0100612	autism spectrum disorder 3	http://purl.obolibrary.org/obo/MONDO_0005258	autism spectrum disorder		The most severe form of autism spectrum disorder, characterized by severe impairments in social communication and extreme restricted, repetitive behaviors, requiring very substantial support for daily functioning.
http://purl.obolibrary.org/obo/MONDO_0100620	developmental and epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		An epilepsy associated with developmental impairment that may be due to either the underlying etiology or the superimposed epileptic activity, or both.
http://purl.obolibrary.org/obo/MONDO_0100621	acquired developmental and epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100620	developmental and epileptic encephalopathy		An instance of developmental and epileptic encephalopathy that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0100623	meningitis-retention syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A neuro-urological condition characterized by aseptic meningitis, typically without any clear causative agent, associated with acute urinary retention. The typical symptoms and neurological signs of aseptic meningitis are usually mild or absent, so the predominant symptom often turns out to be isolated acute urinary retention. Although several cases are reported in the literature, MRS actual prevalence is underestimated. These factors make an early diagnosis of MRS difficult.
http://purl.obolibrary.org/obo/MONDO_0100625	childhood-onset dementia	http://purl.obolibrary.org/obo/MONDO_0001627	dementia		Dementia beginning in childhood or adolescence. This term denotes a group of conditions that cause early-onset progressive neurocognitive decline.
http://purl.obolibrary.org/obo/MONDO_0100626	SOX11-related complex neurodevelopmental disorder with or without congenital anomalies	http://purl.obolibrary.org/obo/MONDO_0100465	complex neurodevelopmental disorder with or without congenital anomalies		An autosomal dominant disorder caused by pathogenic variation in SOX11 characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits. Individuals with variants in SOX11 have a "unique peripheral blood DNA methylation signature as a diagnostic biomarker and phenotypic clustering analysis that distinguishes SOX11 syndrome from BAFopathies.
http://purl.obolibrary.org/obo/MONDO_0100627	CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A condition identified in infants with hypertrypsinogenemia on newborn screening who have an inconclusive diagnosis, defined as having a sweat chloride value less than 60 mmol/L and two CFTR variants, at least one of which has unclear phenotypic consequences, and who thus do not meet diagnostic criteria for cystic fibrosis (CF). CRMS is the designation used in the United States; CFSPID (CF screen positive, inconclusive diagnosis) is the international equivalent. A proportion of these infants may later develop CFTR-related symptoms.
http://purl.obolibrary.org/obo/MONDO_0100628	SAMD9-related spectrum and myeloid neoplasm risk	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A susceptibility or predisposition to MIRAGE syndrome and monosomy 7 myelodysplasia and leukemia syndrome 2, in which the cause of the disease is a mutation in the SAMD9 gene.
http://purl.obolibrary.org/obo/MONDO_0100630	acquired sleep-related hypermotor epilepsy	http://purl.obolibrary.org/obo/MONDO_0100631	sleep-related hypermotor epilepsy		An instance of sleep-related hypermotor epilepsy that is acquired during the lifetime of the individual. The seizures are triggered by an identifiable structural abnormality in the brain—typically detected by MRI—such as cortical dysplasia, tumors (e.g., low-grade gliomas), scars from prior injury or infection, vascular malformations (e.g., cavernomas), or post-traumatic changes.
http://purl.obolibrary.org/obo/MONDO_0700340	congenital megaprepuce	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		Rare congenital urological condition, subtype of buried penis, characterized by redundant inner prepuce, phimosis and deficient penile skin, leading to ballooning foreskin that can trap urine, and characterized by an abnormally large, ballooning foreskin that can trap urine, leading to ballooning during urination, difficulty emptying the bladder, and recurrent infections.
http://purl.obolibrary.org/obo/MONDO_1060115	TUBB4B-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy in which the cause of the disease is a variant in the TUBB4B gene. Please note that patient diagnoses can include disorders such as Leber congenital amaurosis and/or primary ciliary dyskinesia.
http://purl.obolibrary.org/obo/MONDO_1060116	FDXR-related optic atrophy mitochondrial dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		Any mitochondrial disorder in which the cause of the disease is a mutation in the FDXR gene.
http://purl.obolibrary.org/obo/MONDO_1040063	KCNV2-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the KCNV2 gene.
http://purl.obolibrary.org/obo/MONDO_1010146	CFAP46-related primary ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP46 gene.
http://purl.obolibrary.org/obo/PATO_0001894	phenotypic sex	http://purl.obolibrary.org/obo/PATO_0000047	biological sex		An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics.
http://purl.obolibrary.org/obo/PATO_0015022	increased combustibility	http://purl.obolibrary.org/obo/PATO_0015021	combustibility		An increase in combustibility.
http://purl.obolibrary.org/obo/PATO_0015023	decreased combustibility	http://purl.obolibrary.org/obo/PATO_0015021	combustibility		An decrease in combustibility.
http://purl.obolibrary.org/obo/ENVO_01001033	digestive tract environment	http://purl.obolibrary.org/obo/ENVO_2100000	anatomical entity environment		An environmental system which has its properties and dynamics determined by a digestive tract.
http://purl.obolibrary.org/obo/HP_0031258	Delirium	http://purl.obolibrary.org/obo/HP_0001289	Confusion		A state of sudden and severe confusion.
http://purl.obolibrary.org/obo/HP_0031295	Left atrial enlargement	http://purl.obolibrary.org/obo/HP_0025579	Abnormal left atrium morphology		Increase in size of the left atrium.
http://purl.obolibrary.org/obo/HP_0031302	Lower extremity peripheral arterial calcification	http://purl.obolibrary.org/obo/HP_0031301	Peripheral arterial calcification		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.
http://purl.obolibrary.org/obo/HP_0031303	Femoral arterial calcification	http://purl.obolibrary.org/obo/HP_0035012	Abnormal femoral artery morphology		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.
http://purl.obolibrary.org/obo/HP_0031304	Iliac arterial calcification	http://purl.obolibrary.org/obo/HP_4000066	Abnormal iliac artery morphology		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.
http://purl.obolibrary.org/obo/HP_0031307	Internal carotid artery calcification	http://purl.obolibrary.org/obo/HP_0031306	Intracranial arterial calcification		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.
http://purl.obolibrary.org/obo/HP_0031308	Vertebral artery calcification	http://purl.obolibrary.org/obo/HP_0030321	Abnormal vertebral artery morphology		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.
http://purl.obolibrary.org/obo/HP_0031309	Cerebral artery calcification	http://purl.obolibrary.org/obo/HP_0031306	Intracranial arterial calcification		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.
http://purl.obolibrary.org/obo/HP_0031310	Basilar artery calcification	http://purl.obolibrary.org/obo/HP_0031306	Intracranial arterial calcification		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.
http://purl.obolibrary.org/obo/HP_0031313	Abdominal aortic calcification	http://purl.obolibrary.org/obo/HP_0004963	Calcification of the aorta		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.
http://purl.obolibrary.org/obo/HP_0031314	Carotid artery calcification	http://purl.obolibrary.org/obo/HP_0003207	Arterial calcification		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.
http://purl.obolibrary.org/obo/HP_0031315	External carotid artery calcification	http://purl.obolibrary.org/obo/HP_0031314	Carotid artery calcification		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.
http://purl.obolibrary.org/obo/HP_0031375	Refractory	http://purl.obolibrary.org/obo/HP_0012823	Clinical modifier		Applies to a sign or symptom that is difficult to treat or cure.
http://purl.obolibrary.org/obo/HP_0031377	Abnormal cell proliferation	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.
http://purl.obolibrary.org/obo/HP_0031392	Abnormal CD4+ T cell subset proportion	http://purl.obolibrary.org/obo/HP_0025540	Abnormal T cell subset distribution		Abnormal increase or decrease of any CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group.
http://purl.obolibrary.org/obo/HP_0031393	Abnormal CD8+ T cell proportion	http://purl.obolibrary.org/obo/HP_0025540	Abnormal T cell subset distribution		Abnormal increase or decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.
http://purl.obolibrary.org/obo/HP_0031404	Impaired antigen-specific response	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
http://purl.obolibrary.org/obo/HP_0031406	Abnormal cytokine signaling	http://purl.obolibrary.org/obo/HP_0011111	Abnormal immune serum protein physiology		Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.
http://purl.obolibrary.org/obo/HP_0031407	Impaired cytokine signaling	http://purl.obolibrary.org/obo/HP_0031406	Abnormal cytokine signaling		A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.
http://purl.obolibrary.org/obo/HP_0031409	Abnormal lymphocyte physiology	http://purl.obolibrary.org/obo/HP_0033796	Abnormal leukocyte physiology		Any anomaly of lymphocyte function.
http://purl.obolibrary.org/obo/HP_0031432	Restricted or repetitive behaviors or interests	http://purl.obolibrary.org/obo/HP_5200241	Recurrent maladaptive behavior		A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.
http://purl.obolibrary.org/obo/HP_0031446	Erosion of oral mucosa	http://purl.obolibrary.org/obo/HP_0011830	Abnormal oral mucosa morphology		Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.
http://purl.obolibrary.org/obo/MONDO_0000001	disease	http://purl.obolibrary.org/obo/BFO_0000016	disposition		A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.
http://purl.obolibrary.org/obo/MONDO_0000004	adrenocortical insufficiency	http://purl.obolibrary.org/obo/MONDO_0002816	adrenal cortex disorder		An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).
http://purl.obolibrary.org/obo/MONDO_0000044	hereditary hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.
http://purl.obolibrary.org/obo/MONDO_0000082	pelvic organ prolapse	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.
http://purl.obolibrary.org/obo/MONDO_0000087	polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.
http://purl.obolibrary.org/obo/MONDO_0000088	precocious puberty	http://purl.obolibrary.org/obo/MONDO_0002259	gonadal disorder		Unusually early sexual maturity.
http://purl.obolibrary.org/obo/MONDO_0000107	auriculocondylar syndrome	http://purl.obolibrary.org/obo/MONDO_0007500	ear malformation		Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.
http://purl.obolibrary.org/obo/MONDO_0000110	bifid nose	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.
http://purl.obolibrary.org/obo/MONDO_0000127	geleophysic dysplasia	http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia		Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
http://purl.obolibrary.org/obo/MONDO_0000133	immunodeficiency-centromeric instability-facial anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0100137	telomere syndrome		The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.
http://purl.obolibrary.org/obo/MONDO_0000136	keratosis follicularis spinulosa decalvans	http://purl.obolibrary.org/obo/MONDO_0800159	disorder of polyamine metabolism		Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
http://purl.obolibrary.org/obo/MONDO_0000153	transposition of the great arteries	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		A congenital cardiac defect in which two heart vessels are reversed (transposed).
http://purl.obolibrary.org/obo/MONDO_0000158	developmental dysplasia of the hip	http://purl.obolibrary.org/obo/MONDO_0005497	bone development disease		A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.
http://purl.obolibrary.org/obo/MONDO_0000179	Neu-Laxova syndrome	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0000190	ventricular fibrillation	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)
http://purl.obolibrary.org/obo/MONDO_0000193	cortisone reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0015898	adrenogenital syndrome		A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.
http://purl.obolibrary.org/obo/MONDO_0000200	Zimmermann-Laband syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
http://purl.obolibrary.org/obo/MONDO_0000211	striatal degeneration, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0003122	striatonigral degeneration		An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.
http://purl.obolibrary.org/obo/MONDO_0000222	seminal vesicle acute gonorrhea	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of gonococcal seminal vesiculitis.
http://purl.obolibrary.org/obo/MONDO_0000224	acquired carbohydrate metabolism disease	http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease		An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.
http://purl.obolibrary.org/obo/MONDO_0000225	human monocytic ehrlichiosis	http://purl.obolibrary.org/obo/MONDO_0016003	ehrlichiosis		A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.
http://purl.obolibrary.org/obo/MONDO_0000229	Indian tick typhus	http://purl.obolibrary.org/obo/MONDO_0005677	Rickettsia conorii infectious disease		An infectious disease caused by infection with rickettsia conorii subsp. coronorii.
http://purl.obolibrary.org/obo/MONDO_0000230	Israeli tick typhus	http://purl.obolibrary.org/obo/MONDO_0005677	Rickettsia conorii infectious disease		An infectious disease caused by infection with rickettsia conorii subsp. israelensis.
http://purl.obolibrary.org/obo/MONDO_0000232	Flinders island spotted fever	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.
http://purl.obolibrary.org/obo/MONDO_0000233	Japanese spotted fever	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.
http://purl.obolibrary.org/obo/MONDO_0000234	Rickettsia parkeri spotted fever	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.
http://purl.obolibrary.org/obo/MONDO_0000236	oropharyngeal anthrax	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		A anthrax infection that involves the oropharynx.
http://purl.obolibrary.org/obo/MONDO_0000239	adiaspiromycosis	http://purl.obolibrary.org/obo/MONDO_0005766	fungal lung infectious disease		Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).
http://purl.obolibrary.org/obo/MONDO_0000240	invasive aspergillosis	http://purl.obolibrary.org/obo/MONDO_0000266	pulmonary aspergilloma		An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0000241	Keshan disease	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.
http://purl.obolibrary.org/obo/MONDO_0000242	tinea barbae	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		A dermatophytosis that involves the beard.
http://purl.obolibrary.org/obo/MONDO_0000243	ectothrix infectious disease	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		A dermatophyte infection of the hair that infects the hair surface.
http://purl.obolibrary.org/obo/MONDO_0000244	endothrix infectious disease	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.
http://purl.obolibrary.org/obo/MONDO_0000245	tinea imbricata	http://purl.obolibrary.org/obo/MONDO_0001461	tinea corporis		A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.
http://purl.obolibrary.org/obo/MONDO_0000248	dengue shock syndrome	http://purl.obolibrary.org/obo/MONDO_0005358	Dengue hemorrhagic fever		A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
http://purl.obolibrary.org/obo/MONDO_0000249	secretory diarrhea	http://purl.obolibrary.org/obo/MONDO_0001673	diarrheal disease		Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
http://purl.obolibrary.org/obo/MONDO_0000250	osmotic diarrheal disease	http://purl.obolibrary.org/obo/MONDO_0045030	non-infectious diarrheal disease		A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.
http://purl.obolibrary.org/obo/MONDO_0000251	diarrheal disease secondary to altered bowel motility	http://purl.obolibrary.org/obo/MONDO_0001673	diarrheal disease		A diarrhea that results from either increased or decreased motility in the bowel.
http://purl.obolibrary.org/obo/MONDO_0000252	inflammatory diarrhea	http://purl.obolibrary.org/obo/MONDO_0002269	gastroenteritis		An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.
http://purl.obolibrary.org/obo/MONDO_0000253	piedra	http://purl.obolibrary.org/obo/MONDO_0024268	superficial mycosis		Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.
http://purl.obolibrary.org/obo/MONDO_0000254	cutaneous mycosis	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.
http://purl.obolibrary.org/obo/MONDO_0000255	subcutaneous mycosis	http://purl.obolibrary.org/obo/MONDO_0000254	cutaneous mycosis		A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.
http://purl.obolibrary.org/obo/MONDO_0000256	systemic mycosis	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.
http://purl.obolibrary.org/obo/MONDO_0000257	acute diarrhea	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of diarrhea.
http://purl.obolibrary.org/obo/MONDO_0000261	adenoiditis	http://purl.obolibrary.org/obo/MONDO_0001040	nasopharyngitis		An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.
http://purl.obolibrary.org/obo/MONDO_0000262	otomycosis	http://purl.obolibrary.org/obo/MONDO_0005982	tinea infection		Fungus infection of the external ear, usually by aspergillus species
http://purl.obolibrary.org/obo/MONDO_0000263	laryngotracheitis	http://purl.obolibrary.org/obo/MONDO_0005990	tracheitis		An inflammation of both larynx and trachea.
http://purl.obolibrary.org/obo/MONDO_0000265	aspiration pneumonia	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract.
http://purl.obolibrary.org/obo/MONDO_0000266	pulmonary aspergilloma	http://purl.obolibrary.org/obo/MONDO_0005766	fungal lung infectious disease		A aspergillosis that involves the lung.
http://purl.obolibrary.org/obo/MONDO_0000270	lower respiratory tract disorder	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A disease involving the lower respiratory tract.
http://purl.obolibrary.org/obo/MONDO_0000271	tuberculous salpingitis	http://purl.obolibrary.org/obo/MONDO_0006002	urogenital tuberculosis		An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.
http://purl.obolibrary.org/obo/MONDO_0000273	Kunjin virus infectous disease	http://purl.obolibrary.org/obo/MONDO_0019376	West-Nile encephalitis		A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.
http://purl.obolibrary.org/obo/MONDO_0000276	Powassan encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		A disease caused by infection with Powassan virus.
http://purl.obolibrary.org/obo/MONDO_0000282	Whitewater Arroyo hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.
http://purl.obolibrary.org/obo/MONDO_0000286	Epstein-Barr virus hepatitis	http://purl.obolibrary.org/obo/MONDO_0006011	viral hepatitis		A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.
http://purl.obolibrary.org/obo/MONDO_0000290	primary amebic meningoencephalitis	http://purl.obolibrary.org/obo/MONDO_0020067	infectious encephalitis		A infectious disease involving the Naegleria fowleri.
http://purl.obolibrary.org/obo/MONDO_0000291	granulomatous amebic encephalitis	http://purl.obolibrary.org/obo/MONDO_0021747	Acanthamoeba infectious disease		Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised people and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.
http://purl.obolibrary.org/obo/MONDO_0000292	philophthalmiasis	http://purl.obolibrary.org/obo/MONDO_0005739	echinostomiasis		A disease caused by infection with Philophthalmus.
http://purl.obolibrary.org/obo/MONDO_0000293	coenurosis	http://purl.obolibrary.org/obo/MONDO_0000367	taeniasis		A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.
http://purl.obolibrary.org/obo/MONDO_0000294	mesocestoidiasis	http://purl.obolibrary.org/obo/MONDO_0042488	Cestode infectious disease		An disease or disorder caused by infection with Mesocestoides.
http://purl.obolibrary.org/obo/MONDO_0000295	acanthocephaliasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		An disease or disorder caused by infection with Acanthocephala.
http://purl.obolibrary.org/obo/MONDO_0000297	baylisascariasis	http://purl.obolibrary.org/obo/MONDO_0005656	Ascaridida infectious disease		An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.
http://purl.obolibrary.org/obo/MONDO_0000298	dioctophymiasis	http://purl.obolibrary.org/obo/MONDO_0005745	Enoplea infectious disease		A disease caused by infection with Dioctophyme renale.
http://purl.obolibrary.org/obo/MONDO_0000299	thelaziasis	http://purl.obolibrary.org/obo/MONDO_0005943	Rhabditida infectious disease		A disease caused by infection with Thelazia.
http://purl.obolibrary.org/obo/MONDO_0000301	ophthalmomyiasis	http://purl.obolibrary.org/obo/MONDO_0005805	hypodermyiasis		An myiasis caused by infection with Oestrus ovis.
http://purl.obolibrary.org/obo/MONDO_0000302	basidiobolomycosis	http://purl.obolibrary.org/obo/MONDO_0019136	Zygomycosis		A disease caused by infection with Basidiobolus.
http://purl.obolibrary.org/obo/MONDO_0000304	penicilliosis	http://purl.obolibrary.org/obo/MONDO_0045033	opportunistic systemic mycosis		A disease caused by infection with Talaromyces marneffei.
http://purl.obolibrary.org/obo/MONDO_0000306	trichosporonosis	http://purl.obolibrary.org/obo/MONDO_0045033	opportunistic systemic mycosis		Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.
http://purl.obolibrary.org/obo/MONDO_0000307	parasitic Ichthyosporea infectious disease	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		A disease caused by infection with Ichthyosporea.
http://purl.obolibrary.org/obo/MONDO_0000308	primary systemic mycosis	http://purl.obolibrary.org/obo/MONDO_0000256	systemic mycosis		A systemic mycosis that arises from infection in an immunologically normal host.
http://purl.obolibrary.org/obo/MONDO_0000309	aniseikonia	http://purl.obolibrary.org/obo/MONDO_0004892	refractive error		A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.
http://purl.obolibrary.org/obo/MONDO_0000310	Alkhurma hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A disease caused by infection with Alkhumra hemorrhagic fever virus.
http://purl.obolibrary.org/obo/MONDO_0000313	hypophosphatemia	http://purl.obolibrary.org/obo/MONDO_0002319	phosphorus metabolism disease		Lower than normal levels of phosphates in the circulating blood.
http://purl.obolibrary.org/obo/MONDO_0000315	commensal bacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
http://purl.obolibrary.org/obo/MONDO_0000320	glandular tularemia	http://purl.obolibrary.org/obo/MONDO_0018077	tularemia		A tularemia that involves the lymph node.
http://purl.obolibrary.org/obo/MONDO_0000321	typhoidal tularemia	http://purl.obolibrary.org/obo/MONDO_0018077	tularemia		A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.
http://purl.obolibrary.org/obo/MONDO_0000327	Buruli ulcer disease	http://purl.obolibrary.org/obo/MONDO_0020590	mycobacterial infectious disease		A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.
http://purl.obolibrary.org/obo/MONDO_0000328	hyperphosphatemia	http://purl.obolibrary.org/obo/MONDO_0002319	phosphorus metabolism disease		Abnormally high level of phosphate in the blood.
http://purl.obolibrary.org/obo/MONDO_0000330	endemic typhus	http://purl.obolibrary.org/obo/MONDO_0001246	typhus		A bacterial infection caused by Rickettsia typhi.
http://purl.obolibrary.org/obo/MONDO_0000331	Rickettsia helvetica spotted fever	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		A disease caused by infection with Rickettsia helvetica.
http://purl.obolibrary.org/obo/MONDO_0000332	sennetsu fever	http://purl.obolibrary.org/obo/MONDO_0006922	Anaplasmataceae infectious disease		A disease caused by infection with Neorickettsia sennetsu.
http://purl.obolibrary.org/obo/MONDO_0000333	early congenital syphilis	http://purl.obolibrary.org/obo/MONDO_0005714	congenital syphilis		A congenital syphilis that is manifested between 0 and 2 years old.
http://purl.obolibrary.org/obo/MONDO_0000334	multinodular goiter	http://purl.obolibrary.org/obo/MONDO_0006869	nodular goiter		Nodular goiter characterized by more than one discrete tissue mass.
http://purl.obolibrary.org/obo/MONDO_0000335	parenchymatous neurosyphilis	http://purl.obolibrary.org/obo/MONDO_0004944	neurosyphilis		A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.
http://purl.obolibrary.org/obo/MONDO_0000336	meningovascular neurosyphilis	http://purl.obolibrary.org/obo/MONDO_0004944	neurosyphilis		A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.
http://purl.obolibrary.org/obo/MONDO_0000337	exanthema subitum	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.
http://purl.obolibrary.org/obo/MONDO_0000339	spinal polio	http://purl.obolibrary.org/obo/MONDO_0000341	paralytic poliomyelitis		A paralytic poliomyelitis in which the site of paralysis is the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0000340	bulbospinal polio	http://purl.obolibrary.org/obo/MONDO_0000341	paralytic poliomyelitis		A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.
http://purl.obolibrary.org/obo/MONDO_0000341	paralytic poliomyelitis	http://purl.obolibrary.org/obo/MONDO_0017373	poliomyelitis		A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.
http://purl.obolibrary.org/obo/MONDO_0000342	O'nyong'nyong fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		An disease or disorder caused by infection with O'nyong-nyong virus.
http://purl.obolibrary.org/obo/MONDO_0000343	Barmah forest virus disease	http://purl.obolibrary.org/obo/MONDO_0005643	Alphavirus infectious disease		A disease caused by infection with Barmah Forest virus.
http://purl.obolibrary.org/obo/MONDO_0000344	Ross river fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A disease caused by infection with Ross River virus.
http://purl.obolibrary.org/obo/MONDO_0000345	Oropouche fever	http://purl.obolibrary.org/obo/MONDO_0021641	Bunyaviridae infectious disease		A disease caused by infection with Oropouche virus.
http://purl.obolibrary.org/obo/MONDO_0000351	disorder of methionine catabolism	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.
http://purl.obolibrary.org/obo/MONDO_0000355	Ullrich congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		A disorder of facial skeleton that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.
http://purl.obolibrary.org/obo/MONDO_0000359	spondylocostal dysostosis	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).
http://purl.obolibrary.org/obo/MONDO_0000363	gummatous syphilis	http://purl.obolibrary.org/obo/MONDO_0004497	tertiary syphilis		A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.
http://purl.obolibrary.org/obo/MONDO_0000365	primary congenital glaucoma	http://purl.obolibrary.org/obo/MONDO_0020366	congenital glaucoma		Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.
http://purl.obolibrary.org/obo/MONDO_0000367	taeniasis	http://purl.obolibrary.org/obo/MONDO_0024271	intestinal helminthiasis		A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.
http://purl.obolibrary.org/obo/MONDO_0000368	extrapulmonary tuberculosis	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		A tuberculosis that occurs at body sites other than the lung.
http://purl.obolibrary.org/obo/MONDO_0000369	abdominal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000368	extrapulmonary tuberculosis		An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.
http://purl.obolibrary.org/obo/MONDO_0000371	oral cavity carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		A in situ carcinoma that involves the oral cavity.
http://purl.obolibrary.org/obo/MONDO_0000372	pharynx carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021345	carcinoma of pharynx		Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.
http://purl.obolibrary.org/obo/MONDO_0000373	gall bladder carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004647	in situ carcinoma		A carcinoma in situ involving a gall bladder.
http://purl.obolibrary.org/obo/MONDO_0000374	bile duct carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0005496	bile duct carcinoma		A carcinoma in situ involving a bile duct.
http://purl.obolibrary.org/obo/MONDO_0000375	bronchus carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004660	lung carcinoma in situ		A carcinoma in situ involving a bronchus.
http://purl.obolibrary.org/obo/MONDO_0000376	respiratory system cancer	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A malignant neoplasm involving the respiratory system
http://purl.obolibrary.org/obo/MONDO_0000377	malignant Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0006266	Leydig cell tumor		A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.
http://purl.obolibrary.org/obo/MONDO_0000378	malignant Sertoli cell tumor	http://purl.obolibrary.org/obo/MONDO_0002696	Sertoli cell tumor		A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.
http://purl.obolibrary.org/obo/MONDO_0000379	malignant Sertoli-Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer		A malignant form of Sertoli-leydig cell tumor.
http://purl.obolibrary.org/obo/MONDO_0000380	paranasal sinus carcinoma	http://purl.obolibrary.org/obo/MONDO_0020669	paranasal sinus cancer		A malignant epithelial neoplasm arising in the paranasal sinus.
http://purl.obolibrary.org/obo/MONDO_0000381	infiltrating renal pelvis transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005221	renal pelvis urothelial carcinoma		A infiltrating urothelial carcinoma that involves the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0000382	respiratory system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign neoplasm that involves the respiratory system.
http://purl.obolibrary.org/obo/MONDO_0000383	benign reproductive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0006054	reproductive system neoplasm		A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.
http://purl.obolibrary.org/obo/MONDO_0000384	bladder benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0004987	urinary bladder neoplasm		A benign abnormal growth of the cells that comprise the bladder.
http://purl.obolibrary.org/obo/MONDO_0000385	benign digestive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A non-metastasizing neoplasm arising from any part of the digestive system.
http://purl.obolibrary.org/obo/MONDO_0000386	digestive system neuroendocrine tumor, grade 1/2	http://purl.obolibrary.org/obo/MONDO_0024503	digestive system neuroendocrine neoplasm		A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.
http://purl.obolibrary.org/obo/MONDO_0000387	hypochromic microcytic anemia	http://purl.obolibrary.org/obo/MONDO_0001357	hypochromic anemia		Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).
http://purl.obolibrary.org/obo/MONDO_0000390	vitelliform macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.
http://purl.obolibrary.org/obo/MONDO_0000393	partial fetal alcohol syndrome	http://purl.obolibrary.org/obo/MONDO_0000408	fetal alcohol spectrum disorder		A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
http://purl.obolibrary.org/obo/MONDO_0000395	alcohol-related birth defect	http://purl.obolibrary.org/obo/MONDO_0000408	fetal alcohol spectrum disorder		A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.
http://purl.obolibrary.org/obo/MONDO_0000396	spastic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0006497	cerebral palsy		A form of cerebral palsy wherein spasticity is the exclusive impairment present.
http://purl.obolibrary.org/obo/MONDO_0000397	ataxic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0006497	cerebral palsy		A form of cerebral palsy caused by damage to cerebellar structures.
http://purl.obolibrary.org/obo/MONDO_0000400	mixed cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0006497	cerebral palsy		A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.
http://purl.obolibrary.org/obo/MONDO_0000402	small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002120	neuroendocrine carcinoma		A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.
http://purl.obolibrary.org/obo/MONDO_0000405	anal canal cancer	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		A malignant neoplasm involving the anal canal
http://purl.obolibrary.org/obo/MONDO_0000407	malignant pleural solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0021041	pleural solitary fibrous tumor		A malignant form of pleural solitary fibrous tumor.
http://purl.obolibrary.org/obo/MONDO_0000408	fetal alcohol spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0021699	alcohol-induced disorders		A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.
http://purl.obolibrary.org/obo/MONDO_0000409	chorioamnionitis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.
http://purl.obolibrary.org/obo/MONDO_0000410	funisitis	http://purl.obolibrary.org/obo/MONDO_0021562	omphalitis		An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.
http://purl.obolibrary.org/obo/MONDO_0000415	adolescence-adult electroclinical syndrome	http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome		An electroclinical syndrome with onset in adolescence and adulthood.
http://purl.obolibrary.org/obo/MONDO_0000421	inborn serine deficiency	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.
http://purl.obolibrary.org/obo/MONDO_0000425	X-linked disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		X-linked form of disease.
http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease	http://purl.obolibrary.org/obo/MONDO_0000429	autosomal genetic disease		Autosomal dominant form of disease.
http://purl.obolibrary.org/obo/MONDO_0000428	Y-linked disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Y-linked form of disease.
http://purl.obolibrary.org/obo/MONDO_0000429	autosomal genetic disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.
http://purl.obolibrary.org/obo/MONDO_0000430	mature T-cell and NK-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0015760	T-cell non-Hodgkin lymphoma		This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.
http://purl.obolibrary.org/obo/MONDO_0000432	lymphoplasmacytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0004095	B-cell neoplasm		A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.
http://purl.obolibrary.org/obo/MONDO_0000437	cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0100308	atactic disorder		A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.
http://purl.obolibrary.org/obo/MONDO_0000447	autosomal dominant polycystic liver disease	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.
http://purl.obolibrary.org/obo/MONDO_0000448	paraganglioma	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.
http://purl.obolibrary.org/obo/MONDO_0000450	secondary progressive multiple sclerosis	http://purl.obolibrary.org/obo/MONDO_0005284	chronic progressive multiple sclerosis		A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.
http://purl.obolibrary.org/obo/MONDO_0000451	primary progressive multiple sclerosis	http://purl.obolibrary.org/obo/MONDO_0005284	chronic progressive multiple sclerosis		A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
http://purl.obolibrary.org/obo/MONDO_0000452	progressive relapsing multiple sclerosis	http://purl.obolibrary.org/obo/MONDO_0005284	chronic progressive multiple sclerosis		A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
http://purl.obolibrary.org/obo/MONDO_0000453	short QT syndrome	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified
http://purl.obolibrary.org/obo/MONDO_0000455	cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
http://purl.obolibrary.org/obo/MONDO_0000456	cerebral creatine deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
http://purl.obolibrary.org/obo/MONDO_0000457	classical glioblastoma	http://purl.obolibrary.org/obo/MONDO_0018177	glioblastoma		A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.
http://purl.obolibrary.org/obo/MONDO_0000458	proneural glioblastoma	http://purl.obolibrary.org/obo/MONDO_0018177	glioblastoma		A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.
http://purl.obolibrary.org/obo/MONDO_0000459	mesenchymal glioblastoma	http://purl.obolibrary.org/obo/MONDO_0018177	glioblastoma		A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.
http://purl.obolibrary.org/obo/MONDO_0000460	neural glioblastoma	http://purl.obolibrary.org/obo/MONDO_0018177	glioblastoma		A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.
http://purl.obolibrary.org/obo/MONDO_0000462	eye adnexa disorder	http://purl.obolibrary.org/obo/MONDO_0002022	disorder of orbital region		A disease involving the ocular adnexa.
http://purl.obolibrary.org/obo/MONDO_0000463	Ochoa syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.
http://purl.obolibrary.org/obo/MONDO_0000465	atrioventricular block	http://purl.obolibrary.org/obo/MONDO_0008848	atrioventricular dissociation		A heart block that is initiated in the atrioventricular node.
http://purl.obolibrary.org/obo/MONDO_0000466	first-degree atrioventricular block	http://purl.obolibrary.org/obo/MONDO_0000465	atrioventricular block		A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.
http://purl.obolibrary.org/obo/MONDO_0000467	second-degree atrioventricular block	http://purl.obolibrary.org/obo/MONDO_0000465	atrioventricular block		Intermittent failure of atrial electrical impulse conduction to the ventricles.
http://purl.obolibrary.org/obo/MONDO_0000468	third-degree atrioventricular block	http://purl.obolibrary.org/obo/MONDO_0000465	atrioventricular block		A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)
http://purl.obolibrary.org/obo/MONDO_0000469	sinoatrial node disorder	http://purl.obolibrary.org/obo/MONDO_0005449	conduction system disorder		A disease involving the sinoatrial node.
http://purl.obolibrary.org/obo/MONDO_0000470	endocardium disorder	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A disease involving the endocardium.
http://purl.obolibrary.org/obo/MONDO_0000471	tricuspid valve disorder	http://purl.obolibrary.org/obo/MONDO_0002869	heart valve disorder		A disease involving the tricuspid valve.
http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		An impairment of the structure or function of the blood vessels which carry blood away from the heart.
http://purl.obolibrary.org/obo/MONDO_0000474	pericardium disorder	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A disease involving the pericardium.
http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia	http://purl.obolibrary.org/obo/MONDO_0003441	dystonic disorder		A dystonia that is localized to a specific part of the body.
http://purl.obolibrary.org/obo/MONDO_0000478	multifocal dystonia	http://purl.obolibrary.org/obo/MONDO_0003441	dystonic disorder		A dystonia that involves two or more unrelated body parts.
http://purl.obolibrary.org/obo/MONDO_0000479	segmental dystonia	http://purl.obolibrary.org/obo/MONDO_0003441	dystonic disorder		A dystonia that affects two or more adjacent parts of the body.
http://purl.obolibrary.org/obo/MONDO_0000480	anismus	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		A focal dystonia of the pelvic floor muscles during attempted defecation.
http://purl.obolibrary.org/obo/MONDO_0000481	cervical dystonia	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.
http://purl.obolibrary.org/obo/MONDO_0000482	focal hand dystonia	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
http://purl.obolibrary.org/obo/MONDO_0000483	oculogyric crisis	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
http://purl.obolibrary.org/obo/MONDO_0000485	spasmodic dystonia	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.
http://purl.obolibrary.org/obo/MONDO_0000486	craniofacial dystonia	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
http://purl.obolibrary.org/obo/MONDO_0000487	hemidystonia	http://purl.obolibrary.org/obo/MONDO_0000478	multifocal dystonia		A multifocal dystonia that involves the arm and leg on the same side of the body.
http://purl.obolibrary.org/obo/MONDO_0000488	periampullary adenoma	http://purl.obolibrary.org/obo/MONDO_0021375	tumor of duodenum		A adenoma that involves the periampullary region of duodenum.
http://purl.obolibrary.org/obo/MONDO_0000489	diabetic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.
http://purl.obolibrary.org/obo/MONDO_0000490	glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0019722	glomerular disorder		A hardening of the kidney glomerulus caused by scarring of the blood vessels.
http://purl.obolibrary.org/obo/MONDO_0000491	limb ischemia	http://purl.obolibrary.org/obo/MONDO_0005053	ischemic disease		A ischemia that involves the limb.
http://purl.obolibrary.org/obo/MONDO_0000492	chronic venous insufficiency	http://purl.obolibrary.org/obo/MONDO_0000945	venous insufficiency		Chronic form of venous insufficiency (disease).
http://purl.obolibrary.org/obo/MONDO_0000494	renal fibrosis	http://purl.obolibrary.org/obo/MONDO_0000490	glomerulosclerosis		A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.
http://purl.obolibrary.org/obo/MONDO_0000495	oppositional defiant disorder	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.
http://purl.obolibrary.org/obo/MONDO_0000496	hemorrhagic cystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		Inflammation of the bladder resulting in bloody urine.
http://purl.obolibrary.org/obo/MONDO_0000497	pyometritis	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		Inflammation of uterine musculature associated with pus in the uterine cavity.
http://purl.obolibrary.org/obo/MONDO_0000498	arteritic anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0008538	temporal arteritis		An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)
http://purl.obolibrary.org/obo/MONDO_0000500	tongue squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004958	oral cavity squamous cell carcinoma		A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.
http://purl.obolibrary.org/obo/MONDO_0000502	villous adenoma	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.
http://purl.obolibrary.org/obo/MONDO_0000503	lung adenocarcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.
http://purl.obolibrary.org/obo/MONDO_0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	http://purl.obolibrary.org/obo/MONDO_0017276	frontotemporal dementia		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.
http://purl.obolibrary.org/obo/MONDO_0000508	syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A intellectual disability that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0000509	non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0001071	intellectual disability		An intellectual disability that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0000510	synucleinopathy	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]
http://purl.obolibrary.org/obo/MONDO_0000513	bone ameloblastoma	http://purl.obolibrary.org/obo/MONDO_0017795	ameloblastoma		A ameloblastoma that involves the bone tissue.
http://purl.obolibrary.org/obo/MONDO_0000514	bone squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A squamous cell carcinoma that involves the bone tissue.
http://purl.obolibrary.org/obo/MONDO_0000515	bone chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0008977	chondrosarcoma		A chondrosarcoma (disease) that involves the bone tissue.
http://purl.obolibrary.org/obo/MONDO_0000516	phalanx chondroma	http://purl.obolibrary.org/obo/MONDO_0002360	chondroma		A chondroma that involves the phalanx.
http://purl.obolibrary.org/obo/MONDO_0000517	brain stem medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0021228	brainstem neoplasm		A medulloblastoma that involves the brainstem.
http://purl.obolibrary.org/obo/MONDO_0000518	sacrum chordoma	http://purl.obolibrary.org/obo/MONDO_0002894	spinal chordoma		A chordoma (disease) that involves the fused sacrum.
http://purl.obolibrary.org/obo/MONDO_0000519	corpus callosum oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0002731	cerebral hemisphere cancer		A oligodendroglioma that involves the corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0000520	parietal lobe ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0004245	ependymal tumor of brain		An ependymal tumor affecting the parietal lobe of the brain.
http://purl.obolibrary.org/obo/MONDO_0000521	salivary gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.
http://purl.obolibrary.org/obo/MONDO_0000524	mixed extragonadal germ cell cancer	http://purl.obolibrary.org/obo/MONDO_0015864	mixed germ cell tumor		A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.
http://purl.obolibrary.org/obo/MONDO_0000525	cecum villous adenoma	http://purl.obolibrary.org/obo/MONDO_0021271	villous adenoma of colon		A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0000527	colon adenoma	http://purl.obolibrary.org/obo/MONDO_0024479	epithelial tumor of colon		An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.
http://purl.obolibrary.org/obo/MONDO_0000530	rectum adenoma	http://purl.obolibrary.org/obo/MONDO_0024476	epithelial neoplasm of rectum		An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.
http://purl.obolibrary.org/obo/MONDO_0000531	bronchus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005616	pulmonary mucoepidermoid carcinoma		A mucoepidermoid carcinoma that involves the bronchus.
http://purl.obolibrary.org/obo/MONDO_0000532	lung combined type small cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.
http://purl.obolibrary.org/obo/MONDO_0000534	trachea mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003184	trachea carcinoma		A mucoepidermoid carcinoma that involves the trachea.
http://purl.obolibrary.org/obo/MONDO_0000536	pharyngeal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021345	carcinoma of pharynx		A squamous cell carcinoma that arises from the pharynx.
http://purl.obolibrary.org/obo/MONDO_0000539	striated muscle rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0005864	muscle cancer		A rhabdoid tumor that involves the striated muscle tissue.
http://purl.obolibrary.org/obo/MONDO_0000540	small intestinal neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0021533	intestinal neuroendocrine tumor G1		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0000541	jejunal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006815	jejunal cancer		A adenocarcinoma that involves the jejunum.
http://purl.obolibrary.org/obo/MONDO_0000543	ovarian melanoma	http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm		A melanoma (disease) that involves the ovary.
http://purl.obolibrary.org/obo/MONDO_0000544	mucosal melanoma	http://purl.obolibrary.org/obo/MONDO_0006320	non-cutaneous melanoma		A melanoma that arises from a mucosal site.
http://purl.obolibrary.org/obo/MONDO_0000545	sublingual gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0021070	sublingual gland carcinoma		A adenoid cystic carcinoma that involves the sublingual gland.
http://purl.obolibrary.org/obo/MONDO_0000548	ovarian clear cell cancer	http://purl.obolibrary.org/obo/MONDO_0018364	malignant epithelial tumor of ovary		An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0000549	cervical neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0021351	neoplasm of neck		A relatively uncommon neuroblastoma that is found in the neck.
http://purl.obolibrary.org/obo/MONDO_0000550	extra-adrenal sympathetic paraganglioma	http://purl.obolibrary.org/obo/MONDO_0021072	sympathetic paraganglioma		A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.
http://purl.obolibrary.org/obo/MONDO_0000551	retroperitoneal neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0024645	retroperitoneal neoplasm		A neuroblastoma that involves the retroperitoneal space.
http://purl.obolibrary.org/obo/MONDO_0000552	breast lobular carcinoma	http://purl.obolibrary.org/obo/MONDO_0004988	breast adenocarcinoma		An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.
http://purl.obolibrary.org/obo/MONDO_0000553	uterine corpus endometrial carcinoma	http://purl.obolibrary.org/obo/MONDO_0006003	uterine corpus cancer		A endometrial carcinoma (disease) that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0000554	endocervical adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005153	cervical adenocarcinoma		An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.
http://purl.obolibrary.org/obo/MONDO_0000565	infective endocarditis	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.
http://purl.obolibrary.org/obo/MONDO_0000568	autoimmune disorder of central nervous system	http://purl.obolibrary.org/obo/MONDO_0002977	autoimmune disorder of the nervous system		A hypersensitivity reaction type II disease that involves the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0000569	autoimmune disorder of endocrine system	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A hypersensitivity reaction type II disease that involves the endocrine system.
http://purl.obolibrary.org/obo/MONDO_0000572	recombinase activating gene 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
http://purl.obolibrary.org/obo/MONDO_0000573	recombinase activating gene 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
http://purl.obolibrary.org/obo/MONDO_0000577	congenital anemia	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		Anemia, the cause of which is present at birth.
http://purl.obolibrary.org/obo/MONDO_0000586	autoimmune disorder of exocrine system	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A hypersensitivity reaction type II disease that involves the exocrine system.
http://purl.obolibrary.org/obo/MONDO_0000587	autoimmune disease of ear, nose and throat	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		An autoimmune form of otorhinolaryngologic disease.
http://purl.obolibrary.org/obo/MONDO_0000588	autoimmune disorder of gastrointestinal tract	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.
http://purl.obolibrary.org/obo/MONDO_0000589	autoimmune disorder of musculoskeletal system	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A hypersensitivity reaction type II disease that involves the musculoskeletal system.
http://purl.obolibrary.org/obo/MONDO_0000590	autoimmune disorder of peripheral nervous system	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A hypersensitivity reaction type II disease that involves the peripheral nervous system.
http://purl.obolibrary.org/obo/MONDO_0000591	intrinsic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy		A cardiomyopathy that is due to abnormalities in heart muscle cells.
http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder	http://purl.obolibrary.org/obo/MONDO_0005503	developmental disorder of mental health		A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
http://purl.obolibrary.org/obo/MONDO_0000594	pervasive developmental disorder	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.
http://purl.obolibrary.org/obo/MONDO_0000595	sexual disorder	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.
http://purl.obolibrary.org/obo/MONDO_0000596	paraphilic disorder	http://purl.obolibrary.org/obo/MONDO_0000947	psychosexual disorder		Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)
http://purl.obolibrary.org/obo/MONDO_0000597	Munchausen by proxy	http://purl.obolibrary.org/obo/MONDO_0002103	factitious disorder		A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
http://purl.obolibrary.org/obo/MONDO_0000598	aphasia	http://purl.obolibrary.org/obo/MONDO_0004750	language disorder		A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.
http://purl.obolibrary.org/obo/MONDO_0000599	writing disorder	http://purl.obolibrary.org/obo/MONDO_0004681	learning disability		A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
http://purl.obolibrary.org/obo/MONDO_0000600	nosophobia	http://purl.obolibrary.org/obo/MONDO_0012000	specific phobia		A specific phobia that involves an irrational fear of contracting a disease.
http://purl.obolibrary.org/obo/MONDO_0000602	autoimmune disorder of blood	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A hypersensitivity reaction type II disease that involves the blood.
http://purl.obolibrary.org/obo/MONDO_0000603	autoimmune disorder of cardiovascular system	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A hypersensitivity reaction type II disease that involves the cardiovascular system.
http://purl.obolibrary.org/obo/MONDO_0000605	hypersensitivity reaction disease	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.
http://purl.obolibrary.org/obo/MONDO_0000607	primary cutaneous T-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0018898	primary cutaneous lymphoma		A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.
http://purl.obolibrary.org/obo/MONDO_0000610	marantic endocarditis	http://purl.obolibrary.org/obo/MONDO_0005025	endocarditis		Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).
http://purl.obolibrary.org/obo/MONDO_0000611	pre-malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition		A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
http://purl.obolibrary.org/obo/MONDO_0000612	lymphatic system cancer	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		A malignant neoplasm involving the lymphatic part of lymphoid system
http://purl.obolibrary.org/obo/MONDO_0000620	breast benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000634	thoracic benign neoplasm		A non-metastasizing neoplasm arising from the breast parenchyma.
http://purl.obolibrary.org/obo/MONDO_0000621	immune system cancer	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A malignant neoplasm involving the immune system
http://purl.obolibrary.org/obo/MONDO_0000624	benign female reproductive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0000383	benign reproductive system neoplasm		A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.
http://purl.obolibrary.org/obo/MONDO_0000625	benign male reproductive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.
http://purl.obolibrary.org/obo/MONDO_0000626	vestibular gland benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000643	vulvar benign neoplasm		A benign neoplasm that involves the vestibular gland.
http://purl.obolibrary.org/obo/MONDO_0000627	benign endocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.
http://purl.obolibrary.org/obo/MONDO_0000628	central nervous system organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0006130	central nervous system neoplasm		A benign neoplasm that involves the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0000629	cardiovascular organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0024757	cardiovascular neoplasm		A benign neoplasm that involves the cardiovascular system.
http://purl.obolibrary.org/obo/MONDO_0000630	immune system organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign neoplasm that involves the immune organ.
http://purl.obolibrary.org/obo/MONDO_0000631	bone benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm		A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0000632	uterine benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021353	tumor of uterus		A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.
http://purl.obolibrary.org/obo/MONDO_0000633	sensory organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000648	nervous system benign neoplasm		A benign neoplasm that involves the sense organ.
http://purl.obolibrary.org/obo/MONDO_0000634	thoracic benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021350	neoplasm of thorax		A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma.
http://purl.obolibrary.org/obo/MONDO_0000636	musculoskeletal system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign neoplasm that involves the musculoskeletal system.
http://purl.obolibrary.org/obo/MONDO_0000637	musculoskeletal system cancer	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		A malignant neoplasm involving the musculoskeletal system
http://purl.obolibrary.org/obo/MONDO_0000639	cartilage cancer	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		A cancer involving a cartilage tissue.
http://purl.obolibrary.org/obo/MONDO_0000640	central nervous system primitive neuroectodermal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005462	primitive neuroectodermal tumor		A neuroectodermal tumor that involves the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0000643	vulvar benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm		A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.
http://purl.obolibrary.org/obo/MONDO_0000644	cervical benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021230	uterine cervix neoplasm		A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.
http://purl.obolibrary.org/obo/MONDO_0000645	fallopian tube benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021092	fallopian tube neoplasm		A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.
http://purl.obolibrary.org/obo/MONDO_0000646	ovarian benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm		A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.
http://purl.obolibrary.org/obo/MONDO_0000647	benign vaginal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021050	vaginal neoplasm		A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.
http://purl.obolibrary.org/obo/MONDO_0000648	nervous system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021248	nervous system neoplasm		Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).
http://purl.obolibrary.org/obo/MONDO_0000649	sensory system cancer	http://purl.obolibrary.org/obo/MONDO_0005872	nervous system cancer		A malignant neoplasm involving the sensory system
http://purl.obolibrary.org/obo/MONDO_0000650	peritoneal benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0006901	peritoneal neoplasm		A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.
http://purl.obolibrary.org/obo/MONDO_0000652	integumentary system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign neoplasm that involves the integumental system.
http://purl.obolibrary.org/obo/MONDO_0000653	integumentary system cancer	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		A malignant neoplasm involving the integumental system
http://purl.obolibrary.org/obo/MONDO_0000654	benign connective and soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0044334	connective and soft tissue neoplasm		A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.
http://purl.obolibrary.org/obo/MONDO_0000659	delta-heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0019464	heavy chain disease		A heavy chain disease that results from an overproduction of delta antibody (IgD).
http://purl.obolibrary.org/obo/MONDO_0000660	akinetopsia	http://purl.obolibrary.org/obo/MONDO_0019056	neuromuscular disease		An agnosia that is a loss of motion perception.
http://purl.obolibrary.org/obo/MONDO_0000661	alexithymia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a deficiency in understanding, processing, or describing emotions.
http://purl.obolibrary.org/obo/MONDO_0000662	amusia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
http://purl.obolibrary.org/obo/MONDO_0000663	anosognosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
http://purl.obolibrary.org/obo/MONDO_0000664	apperceptive agnosia	http://purl.obolibrary.org/obo/MONDO_0000685	visual agnosia		An agnosia that is a loss of the ability to distinguish visual shapes.
http://purl.obolibrary.org/obo/MONDO_0000665	apraxia	http://purl.obolibrary.org/obo/MONDO_0024417	perceptual disorders		Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.
http://purl.obolibrary.org/obo/MONDO_0000666	associative visual agnosia	http://purl.obolibrary.org/obo/MONDO_0000685	visual agnosia		An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.
http://purl.obolibrary.org/obo/MONDO_0000667	auditory agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
http://purl.obolibrary.org/obo/MONDO_0000668	autotopagnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to orient parts of the body.
http://purl.obolibrary.org/obo/MONDO_0000669	color agnosia	http://purl.obolibrary.org/obo/MONDO_0000685	visual agnosia		An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
http://purl.obolibrary.org/obo/MONDO_0000670	cortical deafness	http://purl.obolibrary.org/obo/MONDO_0021945	hearing disorder		An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
http://purl.obolibrary.org/obo/MONDO_0000671	finger agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia characterized by an inability to distinguish, name, or recognize the fingers
http://purl.obolibrary.org/obo/MONDO_0000672	form agnosia	http://purl.obolibrary.org/obo/MONDO_0000685	visual agnosia		An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
http://purl.obolibrary.org/obo/MONDO_0000673	integrative agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		Agnosia characterized by the inability to integrate perceptual wholes within knowledge.
http://purl.obolibrary.org/obo/MONDO_0000674	mirror agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
http://purl.obolibrary.org/obo/MONDO_0000675	pain agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		Loss of the ability to perceive and process pain.
http://purl.obolibrary.org/obo/MONDO_0000676	phonagnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to recognize familiar voices.
http://purl.obolibrary.org/obo/MONDO_0000677	semantic agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to visually recognize an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognize the object.
http://purl.obolibrary.org/obo/MONDO_0000678	simultanagnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to recognize a whole image or scene while retaining the ability to recognize objects or details in their visual field one at a time.
http://purl.obolibrary.org/obo/MONDO_0000679	social emotional agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
http://purl.obolibrary.org/obo/MONDO_0000680	astereognosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
http://purl.obolibrary.org/obo/MONDO_0000681	tactile agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
http://purl.obolibrary.org/obo/MONDO_0000682	time agnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		An agnosia that is a loss of the ability to comprehend the succession and duration of events.
http://purl.obolibrary.org/obo/MONDO_0000683	topographical agnosia	http://purl.obolibrary.org/obo/MONDO_0000685	visual agnosia		An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.
http://purl.obolibrary.org/obo/MONDO_0000684	verbal auditory agnosia	http://purl.obolibrary.org/obo/MONDO_0000667	auditory agnosia		An agnosia that is a loss of the ability to recognizing spoken words as semantically meaningful.
http://purl.obolibrary.org/obo/MONDO_0000685	visual agnosia	http://purl.obolibrary.org/obo/MONDO_0021084	vision disorder		An inability to recognize or interpret objects by sight.
http://purl.obolibrary.org/obo/MONDO_0000686	alexia without agraphia	http://purl.obolibrary.org/obo/MONDO_0000685	visual agnosia		Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)
http://purl.obolibrary.org/obo/MONDO_0000687	diffuse alopecia areata	http://purl.obolibrary.org/obo/MONDO_0005340	alopecia areata		An alopecia areata that involves diffuse loss of hair over the whole scalp.
http://purl.obolibrary.org/obo/MONDO_0000688	inborn organic aciduria	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.
http://purl.obolibrary.org/obo/MONDO_0000690	body dysmorphic disorder	http://purl.obolibrary.org/obo/MONDO_0003117	somatoform disorder		Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.
http://purl.obolibrary.org/obo/MONDO_0000693	bipolar II disorder	http://purl.obolibrary.org/obo/MONDO_0004985	bipolar disorder		A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
http://purl.obolibrary.org/obo/MONDO_0000694	seasonal affective disorder	http://purl.obolibrary.org/obo/MONDO_0002050	depressive disorder		A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.
http://purl.obolibrary.org/obo/MONDO_0000698	gamma-amino butyric acid metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
http://purl.obolibrary.org/obo/MONDO_0000700	familial hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A migraine disorder characterized by individual and family history of aura that includes motor weakness.
http://purl.obolibrary.org/obo/MONDO_0000701	ischemic colitis	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.
http://purl.obolibrary.org/obo/MONDO_0000702	microscopic colitis	http://purl.obolibrary.org/obo/MONDO_0005292	colitis		Inflammation of the colon that is only apparent by microscopic examination.
http://purl.obolibrary.org/obo/MONDO_0000703	collagenous colitis	http://purl.obolibrary.org/obo/MONDO_0000702	microscopic colitis		A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.
http://purl.obolibrary.org/obo/MONDO_0000704	lymphocytic colitis	http://purl.obolibrary.org/obo/MONDO_0000702	microscopic colitis		Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.
http://purl.obolibrary.org/obo/MONDO_0000705	Clostridium difficile colitis	http://purl.obolibrary.org/obo/MONDO_0006039	infectious colitis		A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.
http://purl.obolibrary.org/obo/MONDO_0000706	chemical colitis	http://purl.obolibrary.org/obo/MONDO_0005292	colitis		A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.
http://purl.obolibrary.org/obo/MONDO_0000707	diversion colitis	http://purl.obolibrary.org/obo/MONDO_0005292	colitis		A colitis which can occur as a complication of ileostomy or colostomy.
http://purl.obolibrary.org/obo/MONDO_0000709	Crohn ileitis	http://purl.obolibrary.org/obo/MONDO_0005539	small bowel Crohn disease		A Crohn disease involving a pathogenic inflammatory response in the ileum.
http://purl.obolibrary.org/obo/MONDO_0000710	gastroduodenal Crohn disease	http://purl.obolibrary.org/obo/MONDO_0005539	small bowel Crohn disease		An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite.
http://purl.obolibrary.org/obo/MONDO_0000715	lymph node adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004971	adenoid cystic carcinoma		A adenoid cystic carcinoma that involves the lymph node.
http://purl.obolibrary.org/obo/MONDO_0000716	agraphia	http://purl.obolibrary.org/obo/MONDO_0000599	writing disorder		An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
http://purl.obolibrary.org/obo/MONDO_0000721	xanthinuria	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.
http://purl.obolibrary.org/obo/MONDO_0000722	non-syndromic synpolydactyly	http://purl.obolibrary.org/obo/MONDO_0021651	synpolydactyly		A synpolydactyly that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0000723	stutter disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.
http://purl.obolibrary.org/obo/MONDO_0000724	specific language impairment	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
http://purl.obolibrary.org/obo/MONDO_0000726	idiopathic scoliosis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A scoliosis with no known cause.
http://purl.obolibrary.org/obo/MONDO_0000727	scapuloperoneal myopathy	http://purl.obolibrary.org/obo/MONDO_0016830	Emery-Dreifuss muscular dystrophy		A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
http://purl.obolibrary.org/obo/MONDO_0000728	ptosis	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		The drooping of the upper eyelid.
http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes are affected.
http://purl.obolibrary.org/obo/MONDO_0000733	cornea plana	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.
http://purl.obolibrary.org/obo/MONDO_0000736	dyschromatosis universalis hereditaria	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
http://purl.obolibrary.org/obo/MONDO_0000739	uvulitis	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		Inflammation of the uvula.
http://purl.obolibrary.org/obo/MONDO_0000740	adenoid hypertrophy	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.
http://purl.obolibrary.org/obo/MONDO_0000741	angular cheilitis	http://purl.obolibrary.org/obo/MONDO_0002102	cheilitis		Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.
http://purl.obolibrary.org/obo/MONDO_0000743	oral hairy leukoplakia	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.
http://purl.obolibrary.org/obo/MONDO_0000744	lung abscess	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.
http://purl.obolibrary.org/obo/MONDO_0000745	cardiac arrest	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		Cessation of breathing and/or cardiac function.
http://purl.obolibrary.org/obo/MONDO_0000748	mastoiditis	http://purl.obolibrary.org/obo/MONDO_0002614	bone inflammation disease		Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.
http://purl.obolibrary.org/obo/MONDO_0000749	breast abscess	http://purl.obolibrary.org/obo/MONDO_0005227	abscess		A breast disease characterized by a collection of pus in the breast.
http://purl.obolibrary.org/obo/MONDO_0000750	dental abscess	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		A tooth disease characterized by a localized collection of pus associated with a tooth.
http://purl.obolibrary.org/obo/MONDO_0000751	cervical polyp	http://purl.obolibrary.org/obo/MONDO_0004701	uterine polyp		A polyp that arises from the surface of the cervix.
http://purl.obolibrary.org/obo/MONDO_0000754	anal fistula	http://purl.obolibrary.org/obo/MONDO_1040017	intestinal fistula		An intestinal disorder characterized by an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.
http://purl.obolibrary.org/obo/MONDO_0000755	ectopic pregnancy	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.
http://purl.obolibrary.org/obo/MONDO_0000756	parameningeal embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0009993	embryonal rhabdomyosarcoma		An embryonal rhabdomyosarcoma located in the parameningeal region.
http://purl.obolibrary.org/obo/MONDO_0000757	glucocorticoid-induced osteoporosis	http://purl.obolibrary.org/obo/MONDO_0024651	corticosteroid-induced osteoporosis		An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.
http://purl.obolibrary.org/obo/MONDO_0000758	bacillary angiomatosis	http://purl.obolibrary.org/obo/MONDO_0024461	angiomatosis		A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.
http://purl.obolibrary.org/obo/MONDO_0000761	syndrome caused by partial chromosomal deletion	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		A chromosomal disorder consisting of the absence of a part of a chromosome.
http://purl.obolibrary.org/obo/MONDO_0000762	syndrome caused by partial chromosomal duplication	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.
http://purl.obolibrary.org/obo/MONDO_0000764	epithelial-stromal TGFBI dystrophy	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.
http://purl.obolibrary.org/obo/MONDO_0000766	corneal endothelial dystrophy	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		A corneal dystrophy (disease) that involves the corneal epithelium.
http://purl.obolibrary.org/obo/MONDO_0000771	allergic respiratory disease	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.
http://purl.obolibrary.org/obo/MONDO_0000774	autoimmune neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		An autoimmune form of peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0000775	drug allergy	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		Immunologically mediated adverse reactions to medicinal substances used legally or illegally.
http://purl.obolibrary.org/obo/MONDO_0000777	gastrointestinal allergy	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		A allergic disease that involves the digestive tract.
http://purl.obolibrary.org/obo/MONDO_0000807	latex allergy	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.
http://purl.obolibrary.org/obo/MONDO_0000809	purpura fulminans	http://purl.obolibrary.org/obo/MONDO_0002610	purpura		A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.
http://purl.obolibrary.org/obo/MONDO_0000811	anomalous left coronary artery from the pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.
http://purl.obolibrary.org/obo/MONDO_0000812	vertebral column disorder	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		A disease involving the vertebral column.
http://purl.obolibrary.org/obo/MONDO_0000813	cardiac tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.
http://purl.obolibrary.org/obo/MONDO_0000814	B-cell adult acute lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0020511	precursor B-cell acute lymphoblastic leukemia		An acute B-lymphoblastic leukemia occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0000815	fetal nicotine spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.
http://purl.obolibrary.org/obo/MONDO_0000819	anencephaly	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.
http://purl.obolibrary.org/obo/MONDO_0000820	cerebral cavernous malformation	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.
http://purl.obolibrary.org/obo/MONDO_0000827	salmonellosis	http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease		Infections with bacteria of the genus salmonella.
http://purl.obolibrary.org/obo/MONDO_0000831	thrombotic disease	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.
http://purl.obolibrary.org/obo/MONDO_0000833	bone remodeling disease	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A bone disease that results in formation or resorption abnormalities located in bone.
http://purl.obolibrary.org/obo/MONDO_0000837	bone resorption disease	http://purl.obolibrary.org/obo/MONDO_0000833	bone remodeling disease		A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.
http://purl.obolibrary.org/obo/MONDO_0000840	dysbaric osteonecrosis	http://purl.obolibrary.org/obo/MONDO_0018373	avascular necrosis		A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.
http://purl.obolibrary.org/obo/MONDO_0000845	fibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0000833	bone remodeling disease		A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.
http://purl.obolibrary.org/obo/MONDO_0000849	fibrogenesis imperfecta ossium	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.
http://purl.obolibrary.org/obo/MONDO_0000859	spina bifida occulta	http://purl.obolibrary.org/obo/MONDO_0008449	spina bifida		The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.
http://purl.obolibrary.org/obo/MONDO_0000863	myopathy, lactic acidosis, and sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
http://purl.obolibrary.org/obo/MONDO_0000870	childhood acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0004967	acute lymphoblastic leukemia		An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.
http://purl.obolibrary.org/obo/MONDO_0000871	T-cell childhood acute lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0004963	T-cell acute lymphoblastic leukemia		An acute lymphoblastic leukemia of T-cell origin occurring in children.
http://purl.obolibrary.org/obo/MONDO_0000872	B-cell childhood acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0020511	precursor B-cell acute lymphoblastic leukemia		An acute B-lymphoblastic leukemia occurring in children.
http://purl.obolibrary.org/obo/MONDO_0000873	lymphoblastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.
http://purl.obolibrary.org/obo/MONDO_0000874	T-cell childhood lymphoblastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0004403	childhood precursor T-lymphoblastic lymphoma/leukemia		A T lymphoblastic lymphoma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0000875	adult acute monocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0007896	acute monocytic leukemia		A acute monocytic leukemia that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0000878	cytomegalovirus retinitis	http://purl.obolibrary.org/obo/MONDO_0020950	viral eye infection		Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness.
http://purl.obolibrary.org/obo/MONDO_0000879	cutaneous candidiasis	http://purl.obolibrary.org/obo/MONDO_0005982	tinea infection		Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0000888	gastrointestinal mucositis	http://purl.obolibrary.org/obo/MONDO_0020579	mucositis		Inflammation of the mucous membranes lining the gastrointestinal tract.
http://purl.obolibrary.org/obo/MONDO_0000889	haemophilus meningitis	http://purl.obolibrary.org/obo/MONDO_0006926	haemophilus infectious disease		Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.
http://purl.obolibrary.org/obo/MONDO_0000890	Zika virus congenital syndrome	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A congenital birth syndrome that arises from materal Zika infection.
http://purl.obolibrary.org/obo/MONDO_0000891	mixed fibrolamellar hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006210	fibrolamellar hepatocellular carcinoma		A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.
http://purl.obolibrary.org/obo/MONDO_0000892	colon medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0002271	colon adenocarcinoma		A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.
http://purl.obolibrary.org/obo/MONDO_0000893	mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004991	minimally invasive lung adenocarcinoma		A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells.
http://purl.obolibrary.org/obo/MONDO_0000894	mucinous bronchioloalveolar adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0027772	lung colloid adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is characterized by a tumor cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.
http://purl.obolibrary.org/obo/MONDO_0000895	nonmucinous bronchioloalveolar adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004991	minimally invasive lung adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.
http://purl.obolibrary.org/obo/MONDO_0000898	malignant hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A malignant form of hemangioma.
http://purl.obolibrary.org/obo/MONDO_0000901	relapsed/refractory diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.
http://purl.obolibrary.org/obo/MONDO_0000902	agenesis of the corpus callosum with peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0000903	myoclonus-dystonia syndrome	http://purl.obolibrary.org/obo/MONDO_0020065	combined dystonia		Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
http://purl.obolibrary.org/obo/MONDO_0000908	arrhythmogenic right ventricular dysplasia 13	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.
http://purl.obolibrary.org/obo/MONDO_0000909	Bartter disease type 4B	http://purl.obolibrary.org/obo/MONDO_0019524	Bartter syndrome type 4		A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.
http://purl.obolibrary.org/obo/MONDO_0000910	retinitis pigmentosa 6	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.
http://purl.obolibrary.org/obo/MONDO_0000912	autosomal recessive nonsyndromic hearing loss 5	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.
http://purl.obolibrary.org/obo/MONDO_0000913	hereditary spherocytosis type 2	http://purl.obolibrary.org/obo/MONDO_0019350	hereditary spherocytosis		Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.
http://purl.obolibrary.org/obo/MONDO_0000914	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	http://purl.obolibrary.org/obo/MONDO_0007432	cerebral arteriopathy with subcortical infarcts and leukoencephalopathy		A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/MONDO_0000916	intestinal infectious disease	http://purl.obolibrary.org/obo/MONDO_0002269	gastroenteritis		An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.
http://purl.obolibrary.org/obo/MONDO_0000918	endometritis	http://purl.obolibrary.org/obo/MONDO_0020579	mucositis		An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.
http://purl.obolibrary.org/obo/MONDO_0000919	ampulla of vater cancer	http://purl.obolibrary.org/obo/MONDO_0021321	malignant tumor of extrahepatic bile duct		A primary or metastatic malignant neoplasm involving the ampulla of Vater.
http://purl.obolibrary.org/obo/MONDO_0000920	duodenum cancer	http://purl.obolibrary.org/obo/MONDO_0021375	tumor of duodenum		A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0000921	ampulla of vater neoplasm	http://purl.obolibrary.org/obo/MONDO_0021375	tumor of duodenum		A benign or malignant neoplasm involving the ampulla of Vater.
http://purl.obolibrary.org/obo/MONDO_0000922	pelvic inflammatory disease	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.
http://purl.obolibrary.org/obo/MONDO_0000923	interstitial emphysema	http://purl.obolibrary.org/obo/MONDO_0004849	pulmonary emphysema		Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.
http://purl.obolibrary.org/obo/MONDO_0000925	hyperlucent lung	http://purl.obolibrary.org/obo/MONDO_0004849	pulmonary emphysema		A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.
http://purl.obolibrary.org/obo/MONDO_0000926	eye accommodation disease	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.
http://purl.obolibrary.org/obo/MONDO_0000928	eyelid melanoma	http://purl.obolibrary.org/obo/MONDO_0021313	eyelid cancer		A melanoma that arises from the upper or lower eyelid.
http://purl.obolibrary.org/obo/MONDO_0000929	balloon cell malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma		A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.
http://purl.obolibrary.org/obo/MONDO_0000930	nodular malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma		An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.
http://purl.obolibrary.org/obo/MONDO_0000931	endometrial disorder	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.
http://purl.obolibrary.org/obo/MONDO_0000933	subglottis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021071	laryngeal neoplasm		A benign or malignant neoplasm that affects the subglottic area of the larynx.
http://purl.obolibrary.org/obo/MONDO_0000934	laryngeal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0002354	benign laryngeal neoplasm		A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0000935	larynx squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0002354	benign laryngeal neoplasm		A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.
http://purl.obolibrary.org/obo/MONDO_0000936	syphilitic meningitis	http://purl.obolibrary.org/obo/MONDO_0041825	bacterial meningitis caused by gram-negative bacteria		An infectious meningitis caused by infection with Treponema.
http://purl.obolibrary.org/obo/MONDO_0000937	syphilitic encephalitis	http://purl.obolibrary.org/obo/MONDO_0020067	infectious encephalitis		An encephalitis caused by infection with Treponema.
http://purl.obolibrary.org/obo/MONDO_0000938	gastric leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021449	benign neoplasm of stomach		A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).
http://purl.obolibrary.org/obo/MONDO_0000939	intracranial abscess	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		An abscess that is located in the intracranial space.
http://purl.obolibrary.org/obo/MONDO_0000940	trypanosomiasis	http://purl.obolibrary.org/obo/MONDO_0002428	protozoa infectious disease		Infection with protozoa of the genus trypanosoma.
http://purl.obolibrary.org/obo/MONDO_0000941	eyelid degenerative disorder	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		A neurodegenerative disease that involves the eyelid.
http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0000945	venous insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder		Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.
http://purl.obolibrary.org/obo/MONDO_0000946	psychologic vaginismus	http://purl.obolibrary.org/obo/MONDO_0021723	vaginismus		Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
http://purl.obolibrary.org/obo/MONDO_0000948	xerophthalmia	http://purl.obolibrary.org/obo/MONDO_0006733	dry eye syndrome		Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.
http://purl.obolibrary.org/obo/MONDO_0000950	asthenopia	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches.
http://purl.obolibrary.org/obo/MONDO_0000951	thymus lymphoma	http://purl.obolibrary.org/obo/MONDO_0004021	mediastinal malignant lymphoma		A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0000952	cancer of long bone of lower limb	http://purl.obolibrary.org/obo/MONDO_0024311	cancer affecting bone of limb skeleton		A cancer that involves the hindlimb long bone.
http://purl.obolibrary.org/obo/MONDO_0000954	Meckel diverticulum cancer	http://purl.obolibrary.org/obo/MONDO_0021082	Meckel diverticulum neoplasm		A cancer involving a Meckel's diverticulum.
http://purl.obolibrary.org/obo/MONDO_0000955	ileum cancer	http://purl.obolibrary.org/obo/MONDO_0006801	ileal neoplasm		A malignant neoplasm involving the ileum
http://purl.obolibrary.org/obo/MONDO_0000956	small intestine cancer	http://purl.obolibrary.org/obo/MONDO_0005814	intestinal cancer		A primary or metastatic malignant neoplasm involving the small intestine.
http://purl.obolibrary.org/obo/MONDO_0000958	neuroretinitis	http://purl.obolibrary.org/obo/MONDO_0006879	optic papillitis		Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.
http://purl.obolibrary.org/obo/MONDO_0000960	diabetic peripheral angiopathy	http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease		Diabetic angiopathy is a form of angiopathy associated with diabetic complications.
http://purl.obolibrary.org/obo/MONDO_0000961	endobronchial lipoma	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.
http://purl.obolibrary.org/obo/MONDO_0000962	spindle cell lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0000963	esophageal lipoma	http://purl.obolibrary.org/obo/MONDO_0021459	benign neoplasm of esophagus		A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.
http://purl.obolibrary.org/obo/MONDO_0000964	skin lipoma	http://purl.obolibrary.org/obo/MONDO_0021440	benign neoplasm of skin		A benign or malignant adipose tissue neoplasm of the skin.
http://purl.obolibrary.org/obo/MONDO_0000965	liver lipoma	http://purl.obolibrary.org/obo/MONDO_0859689	hepatobiliary benign neoplasm		A rare benign adipose tissue neoplasm of the liver.
http://purl.obolibrary.org/obo/MONDO_0000966	pleomorphic lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.
http://purl.obolibrary.org/obo/MONDO_0000967	conventional lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.
http://purl.obolibrary.org/obo/MONDO_0000968	kidney lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.
http://purl.obolibrary.org/obo/MONDO_0000969	pleural lipoma	http://purl.obolibrary.org/obo/MONDO_0021457	benign neoplasm of pleura		A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall.
http://purl.obolibrary.org/obo/MONDO_0000970	breast lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.
http://purl.obolibrary.org/obo/MONDO_0000971	chest wall lipoma	http://purl.obolibrary.org/obo/MONDO_0021529	benign neoplasm of chest wall		A benign adipose tissue neoplasm of the chest wall.
http://purl.obolibrary.org/obo/MONDO_0000972	gallbladder lipoma	http://purl.obolibrary.org/obo/MONDO_0021503	benign neoplasm of gallbladder		A benign adipose tissue neoplasm involving the gallbladder wall.
http://purl.obolibrary.org/obo/MONDO_0000973	external ear lipoma	http://purl.obolibrary.org/obo/MONDO_0021474	benign neoplasm of ear		A benign adipose tissue neoplasm of the external ear.
http://purl.obolibrary.org/obo/MONDO_0000974	axillary lipoma	http://purl.obolibrary.org/obo/MONDO_0036781	benign axillary neoplasm		A benign adipose tissue neoplasm of the axilla.
http://purl.obolibrary.org/obo/MONDO_0000975	lipoma of spermatic cord	http://purl.obolibrary.org/obo/MONDO_0024582	male reproductive system neoplasm		A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.
http://purl.obolibrary.org/obo/MONDO_0000976	paratesticular lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.
http://purl.obolibrary.org/obo/MONDO_0000977	chondroid lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.
http://purl.obolibrary.org/obo/MONDO_0000978	extrahepatic bile duct lipoma	http://purl.obolibrary.org/obo/MONDO_0021385	extrahepatic bile duct neoplasm		A rare benign adipose tissue neoplasm of the extrahepatic bile duct.
http://purl.obolibrary.org/obo/MONDO_0000979	pinta disease	http://purl.obolibrary.org/obo/MONDO_0007000	Treponema infectious disease		An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.
http://purl.obolibrary.org/obo/MONDO_0000980	aortic atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		A atherosclerosis that involves the aorta.
http://purl.obolibrary.org/obo/MONDO_0000981	Histoplasma pericarditis	http://purl.obolibrary.org/obo/MONDO_0018312	histoplasmosis		An pericarditis (disease) caused by infection with Histoplasma.
http://purl.obolibrary.org/obo/MONDO_0000983	exhibitionism	http://purl.obolibrary.org/obo/MONDO_0000596	paraphilic disorder		A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.
http://purl.obolibrary.org/obo/MONDO_0000984	thalassemia	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
http://purl.obolibrary.org/obo/MONDO_0000986	pleurisy	http://purl.obolibrary.org/obo/MONDO_0002037	pleural disorder		Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom.
http://purl.obolibrary.org/obo/MONDO_0000987	cholesterolosis of gallbladder	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		A disorder characterized by a change in the gallbladder wall due to excess cholesterol.
http://purl.obolibrary.org/obo/MONDO_0000988	discharging ear	http://purl.obolibrary.org/obo/MONDO_0002409	auditory system disorder		Discharge or drainage of fluid from the ear.
http://purl.obolibrary.org/obo/MONDO_0000989	mumps infectious disease	http://purl.obolibrary.org/obo/MONDO_0005896	Paramyxoviridae infectious disease		A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.
http://purl.obolibrary.org/obo/MONDO_0000990	acute subendocardial myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0004781	acute myocardial infarction		Acute form of subendocardial myocardial infarction.
http://purl.obolibrary.org/obo/MONDO_0000992	heart conduction disease	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A disease that has its basis in the disruption of the heart's electrical conduction system.
http://purl.obolibrary.org/obo/MONDO_0000993	prostate squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005159	prostate carcinoma		An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.
http://purl.obolibrary.org/obo/MONDO_0000994	malignant prostate phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0037003	malignant phyllodes tumor		An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.
http://purl.obolibrary.org/obo/MONDO_0000995	familial periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.
http://purl.obolibrary.org/obo/MONDO_0000996	prostate lymphoma	http://purl.obolibrary.org/obo/MONDO_0008315	prostate cancer		A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0000997	monocular esotropia	http://purl.obolibrary.org/obo/MONDO_0004896	esotropia		A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.
http://purl.obolibrary.org/obo/MONDO_0001000	mixed mineral dust pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		Pneumoconiosis caused by the inhalation of mixed mineral dust particles.
http://purl.obolibrary.org/obo/MONDO_0001001	baritosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.
http://purl.obolibrary.org/obo/MONDO_0001003	pneumoconiosis due to talc	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.
http://purl.obolibrary.org/obo/MONDO_0001004	slate pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		Pneumoconiosis caused by exposure to slate dust.
http://purl.obolibrary.org/obo/MONDO_0001005	kaolin pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0001000	mixed mineral dust pneumoconiosis		Pneumoconiosis caused by inhalation of kaolin dust.
http://purl.obolibrary.org/obo/MONDO_0001007	chronic meningitis	http://purl.obolibrary.org/obo/MONDO_0021108	meningitis		Chronic form of meningitis (disease).
http://purl.obolibrary.org/obo/MONDO_0001008	blepharophimosis	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0001009	solitary cyst of breast	http://purl.obolibrary.org/obo/MONDO_0001011	breast cyst		A single, fluid-filled cyst in the breast parenchyma.
http://purl.obolibrary.org/obo/MONDO_0001011	breast cyst	http://purl.obolibrary.org/obo/MONDO_0000620	breast benign neoplasm		A cystic lesion located in breast tissue.
http://purl.obolibrary.org/obo/MONDO_0001014	chronic leukemia	http://purl.obolibrary.org/obo/MONDO_0005059	leukemia		A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.
http://purl.obolibrary.org/obo/MONDO_0001015	eosinophilic meningitis	http://purl.obolibrary.org/obo/MONDO_0001007	chronic meningitis		Meningitis in which eosinophils predominate in the cerebrospinal fluid.
http://purl.obolibrary.org/obo/MONDO_0001016	epididymis cancer	http://purl.obolibrary.org/obo/MONDO_0005836	male reproductive organ cancer		A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.
http://purl.obolibrary.org/obo/MONDO_0001017	epididymal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.
http://purl.obolibrary.org/obo/MONDO_0001019	suppression amblyopia	http://purl.obolibrary.org/obo/MONDO_0001020	amblyopia		A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.
http://purl.obolibrary.org/obo/MONDO_0001020	amblyopia	http://purl.obolibrary.org/obo/MONDO_0021084	vision disorder		Decreased vision that results from abnormal visual development.
http://purl.obolibrary.org/obo/MONDO_0001023	prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0004967	acute lymphoblastic leukemia		A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.
http://purl.obolibrary.org/obo/MONDO_0001024	pneumonic plague	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		A plague in which the bacteria have infected the lungs.
http://purl.obolibrary.org/obo/MONDO_0001025	seminal vesicle chronic gonorrhea	http://purl.obolibrary.org/obo/MONDO_0001027	gonococcal seminal vesiculitis		Chronic form of gonococcal seminal vesiculitis.
http://purl.obolibrary.org/obo/MONDO_0001027	gonococcal seminal vesiculitis	http://purl.obolibrary.org/obo/MONDO_0004767	vesiculitis		A gonorrhea that involves the seminal vesicle.
http://purl.obolibrary.org/obo/MONDO_0001028	acute pericementitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute inflammatory process that affects the tissues that surround and support the teeth.
http://purl.obolibrary.org/obo/MONDO_0001029	Klippel-Feil syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.
http://purl.obolibrary.org/obo/MONDO_0001031	purulent acute otitis media	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of suppurative otitis media.
http://purl.obolibrary.org/obo/MONDO_0001036	hypopyon	http://purl.obolibrary.org/obo/MONDO_0017210	infectious anterior uveitis		An accumulation of pus in the anterior chamber of the eye.
http://purl.obolibrary.org/obo/MONDO_0001039	tonsillitis	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		Inflammation of the tonsillar tissue.
http://purl.obolibrary.org/obo/MONDO_0001040	nasopharyngitis	http://purl.obolibrary.org/obo/MONDO_0004821	nasopharyngeal disorder		An inflammatory process that affects the nasopharynx.
http://purl.obolibrary.org/obo/MONDO_0001041	dentin caries	http://purl.obolibrary.org/obo/MONDO_0005276	dental caries		A dental caries that involves the dentine.
http://purl.obolibrary.org/obo/MONDO_0001042	patellar tendinitis	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		A tendinitis that involves the patella.
http://purl.obolibrary.org/obo/MONDO_0001044	esophageal atresia	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.
http://purl.obolibrary.org/obo/MONDO_0001045	intestinal atresia	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.
http://purl.obolibrary.org/obo/MONDO_0001046	imperforate anus	http://purl.obolibrary.org/obo/MONDO_0002519	anus disorder		A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.
http://purl.obolibrary.org/obo/MONDO_0001048	orbital granuloma	http://purl.obolibrary.org/obo/MONDO_0001849	chronic orbital inflammation		A granuloma located on the orbit of the eye.
http://purl.obolibrary.org/obo/MONDO_0001049	Dressler syndrome	http://purl.obolibrary.org/obo/MONDO_0005904	pericarditis		A pericarditis characterized by inflammation, occurring after injury, located in pericardium.
http://purl.obolibrary.org/obo/MONDO_0001050	malignant otitis externa	http://purl.obolibrary.org/obo/MONDO_0004795	otitis externa		An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.
http://purl.obolibrary.org/obo/MONDO_0001051	acute otitis externa	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of otitis externa.
http://purl.obolibrary.org/obo/MONDO_0001052	chronic fungal otitis externa	http://purl.obolibrary.org/obo/MONDO_0000262	otomycosis		Chronic form of otomycosis.
http://purl.obolibrary.org/obo/MONDO_0001053	acute infection of pinna	http://purl.obolibrary.org/obo/MONDO_0001051	acute otitis externa		An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.
http://purl.obolibrary.org/obo/MONDO_0001056	gastric cancer	http://purl.obolibrary.org/obo/MONDO_0021085	gastric neoplasm		A primary or metastatic malignant neoplasm involving the stomach.
http://purl.obolibrary.org/obo/MONDO_0001057	malignant gastric granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0003252	granular cell cancer		A metastasizing granular cell tumor that arises from the stomach.
http://purl.obolibrary.org/obo/MONDO_0001059	gastric lymphoma	http://purl.obolibrary.org/obo/MONDO_0004699	gastrointestinal lymphoma		An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.
http://purl.obolibrary.org/obo/MONDO_0001060	microinvasive gastric cancer	http://purl.obolibrary.org/obo/MONDO_0005036	gastric adenocarcinoma		An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present.
http://purl.obolibrary.org/obo/MONDO_0001061	pylorus cancer	http://purl.obolibrary.org/obo/MONDO_0001056	gastric cancer		A malignant neoplasm involving the pylorus.
http://purl.obolibrary.org/obo/MONDO_0001062	pyloric antrum cancer	http://purl.obolibrary.org/obo/MONDO_0001061	pylorus cancer		A malignant neoplasm involving the pyloric antrum.
http://purl.obolibrary.org/obo/MONDO_0001063	cardia cancer	http://purl.obolibrary.org/obo/MONDO_0001056	gastric cancer		A malignant neoplasm involving the cardia of stomach.
http://purl.obolibrary.org/obo/MONDO_0001064	acute eustachian salpingitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of otosalpingitis.
http://purl.obolibrary.org/obo/MONDO_0001065	supine hypotensive syndrome	http://purl.obolibrary.org/obo/MONDO_0005468	hypotensive disorder		A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.
http://purl.obolibrary.org/obo/MONDO_0001066	late yaws	http://purl.obolibrary.org/obo/MONDO_0006718	cutaneous syphilis		Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.
http://purl.obolibrary.org/obo/MONDO_0001067	early yaws	http://purl.obolibrary.org/obo/MONDO_0006019	yaws		Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.
http://purl.obolibrary.org/obo/MONDO_0001068	osteomalacia	http://purl.obolibrary.org/obo/MONDO_0800486	metabolic bone disorder		A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003
http://purl.obolibrary.org/obo/MONDO_0001071	intellectual disability	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
http://purl.obolibrary.org/obo/MONDO_0001072	mild pre-eclampsia	http://purl.obolibrary.org/obo/MONDO_0005081	preeclampsia		A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.
http://purl.obolibrary.org/obo/MONDO_0001074	chronic tic disorder	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.
http://purl.obolibrary.org/obo/MONDO_0001075	steatorrhea	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A finding of an excessive amount of fat in the stool.
http://purl.obolibrary.org/obo/MONDO_0001076	glucose intolerance	http://purl.obolibrary.org/obo/MONDO_0011731	glucose-galactose malabsorption		The inability to regulate blood glucose levels resulting in hyperglycemia.
http://purl.obolibrary.org/obo/MONDO_0001078	tropical sprue	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.
http://purl.obolibrary.org/obo/MONDO_0001080	acute gonococcal cervicitis	http://purl.obolibrary.org/obo/MONDO_0001081	acute cervicitis		Acute form of gonococcal cervicitis.
http://purl.obolibrary.org/obo/MONDO_0001081	acute cervicitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.
http://purl.obolibrary.org/obo/MONDO_0001082	lymph node cancer	http://purl.obolibrary.org/obo/MONDO_0000612	lymphatic system cancer		A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004
http://purl.obolibrary.org/obo/MONDO_0001083	Fanconi renotubular syndrome	http://purl.obolibrary.org/obo/MONDO_0021568	renal tubule disorder		A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.
http://purl.obolibrary.org/obo/MONDO_0001085	interstitial nephritis	http://purl.obolibrary.org/obo/MONDO_0001166	nephritis		Inflammation of the renal tubules and supporting tissues of the kidney.
http://purl.obolibrary.org/obo/MONDO_0001087	schizotypal personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.
http://purl.obolibrary.org/obo/MONDO_0001090	acute anterolateral myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0006652	anterolateral myocardial infarction		Acute form of anterolateral myocardial infarction.
http://purl.obolibrary.org/obo/MONDO_0001091	lipoma of colon	http://purl.obolibrary.org/obo/MONDO_0003885	colorectal lipoma		A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.
http://purl.obolibrary.org/obo/MONDO_0001092	colon leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003299	colorectal leiomyoma		A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0001093	colonic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0002278	benign colon neoplasm		A lymphangioma arising from the colon.
http://purl.obolibrary.org/obo/MONDO_0001095	mediastinum neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A neuroblastoma arising from the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0001096	mediastinum ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0003327	peripheral ganglioneuroblastoma		A ganglioneuroblastoma arising from the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0001098	separation anxiety disorder	http://purl.obolibrary.org/obo/MONDO_0005618	anxiety disorder		An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.
http://purl.obolibrary.org/obo/MONDO_0001099	lactocele	http://purl.obolibrary.org/obo/MONDO_0045019	lactation disease		Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.
http://purl.obolibrary.org/obo/MONDO_0001100	hypertrophy of breast	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain.
http://purl.obolibrary.org/obo/MONDO_0001101	fat necrosis of breast	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.
http://purl.obolibrary.org/obo/MONDO_0001103	giardiasis	http://purl.obolibrary.org/obo/MONDO_0024270	parasitic intestinal disorder		An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.
http://purl.obolibrary.org/obo/MONDO_0001105	renal hypertension	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.
http://purl.obolibrary.org/obo/MONDO_0001106	kidney failure	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.
http://purl.obolibrary.org/obo/MONDO_0001108	broad ligament malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0045043	disorder of uterine broad ligament		A malignant neoplasm involving the broad ligament of uterus.
http://purl.obolibrary.org/obo/MONDO_0001109	petrositis	http://purl.obolibrary.org/obo/MONDO_0024654	skull disorder		Inflammation of petrous bone.
http://purl.obolibrary.org/obo/MONDO_0001110	chronic pyelonephritis	http://purl.obolibrary.org/obo/MONDO_0006939	pyelonephritis		Persistent pyelonephritis.
http://purl.obolibrary.org/obo/MONDO_0001112	bubonic plague	http://purl.obolibrary.org/obo/MONDO_0019095	plague		A plague in which the bacteria have infected the lymphatic system.
http://purl.obolibrary.org/obo/MONDO_0001114	bacterial myocarditis	http://purl.obolibrary.org/obo/MONDO_0004496	myocarditis		Myocarditis that is caused by an infection with a bacterial agent.
http://purl.obolibrary.org/obo/MONDO_0001115	familial polycythemia	http://purl.obolibrary.org/obo/MONDO_0005571	polycythemia		Polycythemia that occurs in groups of related individuals.
http://purl.obolibrary.org/obo/MONDO_0001116	mesenteric lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0002052	lymphadenitis		Inflammation of the mesenteric lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0001117	methemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0044348	hemoglobinopathy		An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.
http://purl.obolibrary.org/obo/MONDO_0001118	Queensland tick typhus	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.
http://purl.obolibrary.org/obo/MONDO_0001119	premature menopause	http://purl.obolibrary.org/obo/MONDO_0005387	primary ovarian failure		Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.
http://purl.obolibrary.org/obo/MONDO_0001120	chronic frontal sinusitis	http://purl.obolibrary.org/obo/MONDO_0006031	chronic rhinosinusitis		Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.
http://purl.obolibrary.org/obo/MONDO_0001121	frontal sinusitis	http://purl.obolibrary.org/obo/MONDO_0005961	sinusitis		An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.
http://purl.obolibrary.org/obo/MONDO_0001122	chronic maxillary sinusitis	http://purl.obolibrary.org/obo/MONDO_0006031	chronic rhinosinusitis		Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.
http://purl.obolibrary.org/obo/MONDO_0001123	chronic sphenoidal sinusitis	http://purl.obolibrary.org/obo/MONDO_0006031	chronic rhinosinusitis		Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.
http://purl.obolibrary.org/obo/MONDO_0001125	acute gonococcal epididymo-orchitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of gonococcal epididymo-orchitis.
http://purl.obolibrary.org/obo/MONDO_0001126	gastric ulcer	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.
http://purl.obolibrary.org/obo/MONDO_0001127	tibialis tendinitis	http://purl.obolibrary.org/obo/MONDO_0004857	tendinitis		A tendinitis that involves the tibialis.
http://purl.obolibrary.org/obo/MONDO_0001128	nasal cavity cancer	http://purl.obolibrary.org/obo/MONDO_0005627	head and neck cancer		A malignant neoplasm involving the nasal cavity
http://purl.obolibrary.org/obo/MONDO_0001129	nasal cavity olfactory neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0006329	olfactory neuroblastoma		An olfactory neuroblastoma arising in the nasal cavity.
http://purl.obolibrary.org/obo/MONDO_0001130	nasal cavity lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.
http://purl.obolibrary.org/obo/MONDO_0001132	sexual sadism disorder	http://purl.obolibrary.org/obo/MONDO_0000595	sexual disorder		A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.
http://purl.obolibrary.org/obo/MONDO_0001133	malignant essential hypertension	http://purl.obolibrary.org/obo/MONDO_0006846	malignant hypertension		Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.
http://purl.obolibrary.org/obo/MONDO_0001134	essential hypertension	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		Hypertension that presents without an identifiable cause.
http://purl.obolibrary.org/obo/MONDO_0001135	voyeurism	http://purl.obolibrary.org/obo/MONDO_0000596	paraphilic disorder		A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.
http://purl.obolibrary.org/obo/MONDO_0001137	Murray valley encephalitis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		An disease caused by infection with Murray Valley encephalitis virus.
http://purl.obolibrary.org/obo/MONDO_0001138	angiodysplasia of intestine	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A angiodysplasia that involves the intestine.
http://purl.obolibrary.org/obo/MONDO_0001139	sexual masochism disorder	http://purl.obolibrary.org/obo/MONDO_0000595	sexual disorder		A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.
http://purl.obolibrary.org/obo/MONDO_0001141	middle ear cholesterol granuloma	http://purl.obolibrary.org/obo/MONDO_0005441	otitis media		As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.
http://purl.obolibrary.org/obo/MONDO_0001142	salivary gland disorder	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A disease involving the saliva-secreting gland.
http://purl.obolibrary.org/obo/MONDO_0001146	fourth cranial nerve palsy	http://purl.obolibrary.org/obo/MONDO_0007002	trochlear nerve disorder		A cranial nerve palsy that involves the trochlear nerve.
http://purl.obolibrary.org/obo/MONDO_0001147	meningocele	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.
http://purl.obolibrary.org/obo/MONDO_0001148	iliac vein thrombophlebitis	http://purl.obolibrary.org/obo/MONDO_0002800	thrombophlebitis		A thrombophlebitis that involves the iliac vein.
http://purl.obolibrary.org/obo/MONDO_0001149	microcephaly	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.
http://purl.obolibrary.org/obo/MONDO_0001150	hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.
http://purl.obolibrary.org/obo/MONDO_0001151	benign essential hypertension	http://purl.obolibrary.org/obo/MONDO_0001134	essential hypertension		A condition of mild to moderate high blood pressure that has no identifiable cause.
http://purl.obolibrary.org/obo/MONDO_0001152	amnestic disorder	http://purl.obolibrary.org/obo/MONDO_0002039	cognitive disorder		Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.
http://purl.obolibrary.org/obo/MONDO_0001154	Siberian tick typhus	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.
http://purl.obolibrary.org/obo/MONDO_0001156	borderline personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.
http://purl.obolibrary.org/obo/MONDO_0001157	dependent personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.
http://purl.obolibrary.org/obo/MONDO_0001158	obsessive-compulsive personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.
http://purl.obolibrary.org/obo/MONDO_0001159	multiple personality disorder	http://purl.obolibrary.org/obo/MONDO_0001160	dissociative disorder		A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.
http://purl.obolibrary.org/obo/MONDO_0001160	dissociative disorder	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.
http://purl.obolibrary.org/obo/MONDO_0001161	schizoid personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.
http://purl.obolibrary.org/obo/MONDO_0001162	impulse control disorder	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.
http://purl.obolibrary.org/obo/MONDO_0001163	paranoid personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.
http://purl.obolibrary.org/obo/MONDO_0001164	antisocial personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)
http://purl.obolibrary.org/obo/MONDO_0001165	tongue disorder	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A disease involving the tongue.
http://purl.obolibrary.org/obo/MONDO_0001166	nephritis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Inflammation of renal tissue.
http://purl.obolibrary.org/obo/MONDO_0001167	spastic diplegia	http://purl.obolibrary.org/obo/MONDO_0000396	spastic cerebral palsy		A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.
http://purl.obolibrary.org/obo/MONDO_0001168	spastic hemiplegia	http://purl.obolibrary.org/obo/MONDO_0000396	spastic cerebral palsy		A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.
http://purl.obolibrary.org/obo/MONDO_0001169	spastic monoplegia	http://purl.obolibrary.org/obo/MONDO_0000396	spastic cerebral palsy		A spastic cerebral palsy that affects only one limb.
http://purl.obolibrary.org/obo/MONDO_0001170	hemiplegia	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.
http://purl.obolibrary.org/obo/MONDO_0001171	acute salpingo-oophoritis	http://purl.obolibrary.org/obo/MONDO_0001173	acute salpingitis		Acute form of salpingo-oophoritis.
http://purl.obolibrary.org/obo/MONDO_0001173	acute salpingitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.
http://purl.obolibrary.org/obo/MONDO_0001174	conjunctival vascular disorder	http://purl.obolibrary.org/obo/MONDO_0006170	conjunctival disorder		A disorder of the vasculature of the cornea.
http://purl.obolibrary.org/obo/MONDO_0001175	immature cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract disease in which the cataract contains some transparent protein
http://purl.obolibrary.org/obo/MONDO_0001176	lens disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A disease involving the lens of camera-type eye.
http://purl.obolibrary.org/obo/MONDO_0001179	pinguecula	http://purl.obolibrary.org/obo/MONDO_0100581	ocular growth disorder		A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.
http://purl.obolibrary.org/obo/MONDO_0001180	bullous keratopathy	http://purl.obolibrary.org/obo/MONDO_0006712	corneal edema		Keratopathy that is characterized by the presence of epithelial bullae.
http://purl.obolibrary.org/obo/MONDO_0001184	chronic rapidly progressive glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0017236	rapidly progressive glomerulonephritis		Chronic form of rapidly progressive glomerulonephritis.
http://purl.obolibrary.org/obo/MONDO_0001185	dissociative amnesia	http://purl.obolibrary.org/obo/MONDO_0001160	dissociative disorder		A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.
http://purl.obolibrary.org/obo/MONDO_0001186	depersonalization disorder	http://purl.obolibrary.org/obo/MONDO_0001160	dissociative disorder		A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.
http://purl.obolibrary.org/obo/MONDO_0001187	urinary bladder cancer	http://purl.obolibrary.org/obo/MONDO_0006295	malignant urinary system neoplasm		A primary or metastatic malignant neoplasm involving the bladder.
http://purl.obolibrary.org/obo/MONDO_0001188	esophagus lymphoma	http://purl.obolibrary.org/obo/MONDO_0007576	esophageal cancer		An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.
http://purl.obolibrary.org/obo/MONDO_0001190	Brucella suis brucellosis	http://purl.obolibrary.org/obo/MONDO_0005683	brucellosis		An disease or disorder caused by infection with Brucella suis.
http://purl.obolibrary.org/obo/MONDO_0001191	hirudiniasis	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An disease or disorder caused by infection with Hirudinea.
http://purl.obolibrary.org/obo/MONDO_0001192	esophageal melanoma	http://purl.obolibrary.org/obo/MONDO_0045070	digestive system melanoma		A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)
http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.
http://purl.obolibrary.org/obo/MONDO_0001198	acquired thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0002049	thrombocytopenia		An instance of thrombocytopenia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0001199	dislocation of ear ossicle	http://purl.obolibrary.org/obo/MONDO_0002409	auditory system disorder		Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.
http://purl.obolibrary.org/obo/MONDO_0001200	secondary hypertension	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		High blood pressure caused by an underlying medical condition.
http://purl.obolibrary.org/obo/MONDO_0001204	esophagus sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma.
http://purl.obolibrary.org/obo/MONDO_0001208	acute respiratory failure	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.
http://purl.obolibrary.org/obo/MONDO_0001209	common wart	http://purl.obolibrary.org/obo/MONDO_0024666	benign epithelial skin neoplasm		A wart caused by human papillomavirus. It can appear anywhere on the skin.
http://purl.obolibrary.org/obo/MONDO_0001210	enophthalmos	http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa		Abnormal recession of the eyeball within the eye socket.
http://purl.obolibrary.org/obo/MONDO_0001212	non-suppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0005441	otitis media		A otitis media which involves transudation of fluid in the middle ear without pus formation.
http://purl.obolibrary.org/obo/MONDO_0001213	serous glue ear	http://purl.obolibrary.org/obo/MONDO_0021206	chronic non-suppurative otitis media		Chronic form of serous otitis media.
http://purl.obolibrary.org/obo/MONDO_0001214	acute conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute inflammation of the conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0001215	allescheriosis	http://purl.obolibrary.org/obo/MONDO_0000308	primary systemic mycosis		A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.
http://purl.obolibrary.org/obo/MONDO_0001216	pulp degeneration	http://purl.obolibrary.org/obo/MONDO_0003394	dental pulp disorder		Deterioration of the normal pulp tissue.
http://purl.obolibrary.org/obo/MONDO_0001217	pseudomembranous conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0006668	bacterial conjunctivitis		Conjunctivitis that is characterized by formation of a pseudomembrane.
http://purl.obolibrary.org/obo/MONDO_0001218	acute laryngopharyngitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An upper respiratory tract disease which involves inflammation of both larynx and pharynx.
http://purl.obolibrary.org/obo/MONDO_0001220	hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001223	parathyroid gland disorder		Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body.
http://purl.obolibrary.org/obo/MONDO_0001221	esophageal varices	http://purl.obolibrary.org/obo/MONDO_0008638	varicose disease		Abnormally dilated veins of the esophagus.
http://purl.obolibrary.org/obo/MONDO_0001222	congenital T-cell immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0003780	T-cell immunodeficiency		A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.
http://purl.obolibrary.org/obo/MONDO_0001223	parathyroid gland disorder	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A disease involving the parathyroid gland.
http://purl.obolibrary.org/obo/MONDO_0001224	Angelucci syndrome	http://purl.obolibrary.org/obo/MONDO_0005642	atopic conjunctivitis		Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.
http://purl.obolibrary.org/obo/MONDO_0001225	opioid abuse	http://purl.obolibrary.org/obo/MONDO_0002491	substance abuse		A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
http://purl.obolibrary.org/obo/MONDO_0001226	acute contagious conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0001214	acute conjunctivitis		Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.
http://purl.obolibrary.org/obo/MONDO_0001227	chronic tympanitis	http://purl.obolibrary.org/obo/MONDO_0024616	tympanitis		Chronic form of tympanitis.
http://purl.obolibrary.org/obo/MONDO_0001229	small intestine diverticulitis	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		A diverticulitis that involves the small intestine.
http://purl.obolibrary.org/obo/MONDO_0001234	adhesive otitis media	http://purl.obolibrary.org/obo/MONDO_0002409	auditory system disorder		An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.
http://purl.obolibrary.org/obo/MONDO_0001235	appendix cancer	http://purl.obolibrary.org/obo/MONDO_0002033	cecum cancer		A malignant neoplasm involving the vermiform appendix
http://purl.obolibrary.org/obo/MONDO_0001236	appendiceal neoplasm	http://purl.obolibrary.org/obo/MONDO_0056798	disorder of appendix		A benign or malignant neoplasm involving the appendix.
http://purl.obolibrary.org/obo/MONDO_0001237	appendix lymphoma	http://purl.obolibrary.org/obo/MONDO_0002034	cecum lymphoma		A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.
http://purl.obolibrary.org/obo/MONDO_0001238	polycythemia neonatorum	http://purl.obolibrary.org/obo/MONDO_0005571	polycythemia		A condition in which the red blood cell level is greater than established reference ranges in a newborn.
http://purl.obolibrary.org/obo/MONDO_0001239	anemia of prematurity	http://purl.obolibrary.org/obo/MONDO_0001240	neonatal anemia		A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.
http://purl.obolibrary.org/obo/MONDO_0001240	neonatal anemia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.
http://purl.obolibrary.org/obo/MONDO_0001242	disseminated intravascular coagulation in newborn	http://purl.obolibrary.org/obo/MONDO_0001243	disseminated intravascular coagulation		A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.
http://purl.obolibrary.org/obo/MONDO_0001243	disseminated intravascular coagulation	http://purl.obolibrary.org/obo/MONDO_0002305	thrombophilia		A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0001244	vitamin K deficiency hemorrhagic disease	http://purl.obolibrary.org/obo/MONDO_0024298	vitamin deficiency disorder		Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.
http://purl.obolibrary.org/obo/MONDO_0001245	microcytic anemia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		Anemia in which the red blood cell volume is decreased.
http://purl.obolibrary.org/obo/MONDO_0001246	typhus	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.
http://purl.obolibrary.org/obo/MONDO_0001247	social phobia	http://purl.obolibrary.org/obo/MONDO_0003699	phobic disorder		An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.
http://purl.obolibrary.org/obo/MONDO_0001249	trachoma	http://purl.obolibrary.org/obo/MONDO_0005701	chlamydia trachomatis infectious disease		A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.
http://purl.obolibrary.org/obo/MONDO_0001250	keratomalacia	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.
http://purl.obolibrary.org/obo/MONDO_0001251	chronic apical periodontitis	http://purl.obolibrary.org/obo/MONDO_0005593	chronic periodontitis		Chronic form of periapical periodontitis.
http://purl.obolibrary.org/obo/MONDO_0001252	toxic multinodular goitre	http://purl.obolibrary.org/obo/MONDO_1060200	primary hyperthyroidism		Nodular enlargement of the thyroid gland associated with hyperthyroidism.
http://purl.obolibrary.org/obo/MONDO_0001255	ventilation pneumonitis	http://purl.obolibrary.org/obo/MONDO_0017853	hypersensitivity pneumonitis		An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
http://purl.obolibrary.org/obo/MONDO_0001256	arteriovenous hemangioma/malformation	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.
http://purl.obolibrary.org/obo/MONDO_0001259	pituitary gland infarction	http://purl.obolibrary.org/obo/MONDO_0002721	necrosis of pituitary		Ischemic necrosis of the pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0001260	cercarial dermatitis	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.
http://purl.obolibrary.org/obo/MONDO_0001261	Mobitz type II atrioventricular block	http://purl.obolibrary.org/obo/MONDO_0000467	second-degree atrioventricular block		A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)
http://purl.obolibrary.org/obo/MONDO_0001262	African histoplasmosis	http://purl.obolibrary.org/obo/MONDO_0002099	Histoplasma capsulatum infectious disease		An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.
http://purl.obolibrary.org/obo/MONDO_0001263	histoplasmosis retinitis	http://purl.obolibrary.org/obo/MONDO_0020944	fungal infection of eye		An retinitis caused by infection with Histoplasma capsulatum.
http://purl.obolibrary.org/obo/MONDO_0001265	schizophreniform disorder	http://purl.obolibrary.org/obo/MONDO_0005485	psychotic disorder		A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.
http://purl.obolibrary.org/obo/MONDO_0001266	erysipelas	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.
http://purl.obolibrary.org/obo/MONDO_0001268	gingival recession	http://purl.obolibrary.org/obo/MONDO_0002021	gingival disorder		A loss of gum tissue resulting in an exposure of the roots of the teeth.
http://purl.obolibrary.org/obo/MONDO_0001269	scleral disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.
http://purl.obolibrary.org/obo/MONDO_0001271	lens subluxation	http://purl.obolibrary.org/obo/MONDO_0001176	lens disorder		A partial dislocation of the lens of the eye.
http://purl.obolibrary.org/obo/MONDO_0001273	megacolon	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		An abnormal dilation of the colon not due to obstruction.
http://purl.obolibrary.org/obo/MONDO_0001275	spinal meningioma	http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm		Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.
http://purl.obolibrary.org/obo/MONDO_0001276	expressive language disorder	http://purl.obolibrary.org/obo/MONDO_0004750	language disorder		A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).
http://purl.obolibrary.org/obo/MONDO_0001277	cerebral arteritis	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.
http://purl.obolibrary.org/obo/MONDO_0001279	intraspinal meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that arises from the spinal meninges.
http://purl.obolibrary.org/obo/MONDO_0001280	choroiditis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		An inflammatory process that affects the choroid.
http://purl.obolibrary.org/obo/MONDO_0001281	alternating exotropia	http://purl.obolibrary.org/obo/MONDO_0001286	exotropia		A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.
http://purl.obolibrary.org/obo/MONDO_0001282	fallopian tube endometriosis	http://purl.obolibrary.org/obo/MONDO_0005133	endometriosis		Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.
http://purl.obolibrary.org/obo/MONDO_0001283	endosalpingiosis	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.
http://purl.obolibrary.org/obo/MONDO_0001284	endometriosis of intestine	http://purl.obolibrary.org/obo/MONDO_0005133	endometriosis		Endometriosis that affects the intesines.
http://purl.obolibrary.org/obo/MONDO_0001286	exotropia	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		A form of strabismus in which the eyes are deviated laterally.
http://purl.obolibrary.org/obo/MONDO_0001288	endometriosis of rectovaginal septum and vagina	http://purl.obolibrary.org/obo/MONDO_0005133	endometriosis		Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.
http://purl.obolibrary.org/obo/MONDO_0001290	allergic cutaneous vasculitis	http://purl.obolibrary.org/obo/MONDO_0020576	cutaneous vasculitis		Inflammation of the small vessels of the skin that is mediated by the immune system.
http://purl.obolibrary.org/obo/MONDO_0001292	autonomic nervous system disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the autonomic nervous system.
http://purl.obolibrary.org/obo/MONDO_0001293	subglottis cancer	http://purl.obolibrary.org/obo/MONDO_0002352	larynx cancer		A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0001294	Horner syndrome	http://purl.obolibrary.org/obo/MONDO_0001300	autonomic neuropathy		Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.
http://purl.obolibrary.org/obo/MONDO_0001296	acquired night blindness	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		An instance of night blindness that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0001297	cardiac tamponade	http://purl.obolibrary.org/obo/MONDO_0001370	pericardial effusion		Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion.
http://purl.obolibrary.org/obo/MONDO_0001298	congenital mitral valve insufficiency	http://purl.obolibrary.org/obo/MONDO_1030008	mitral valve insufficiency		Mitral valve insufficiency that is present at birth.
http://purl.obolibrary.org/obo/MONDO_0001299	diabetic autonomic neuropathy	http://purl.obolibrary.org/obo/MONDO_0006626	diabetic neuropathy		Autonomic neuropathy that is caused by diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0001300	autonomic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.
http://purl.obolibrary.org/obo/MONDO_0001301	rumination disorder	http://purl.obolibrary.org/obo/MONDO_0005451	eating disorder		Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.
http://purl.obolibrary.org/obo/MONDO_0001302	hypertensive heart disease	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		Abnormal enlargement of the heart resulting from long-standing hypertension.
http://purl.obolibrary.org/obo/MONDO_0001305	laryngostenosis	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		Narrowing of the laryngeal airway.
http://purl.obolibrary.org/obo/MONDO_0001307	corneal abscess	http://purl.obolibrary.org/obo/MONDO_0023865	corneal infection		An abscess of the cornea.
http://purl.obolibrary.org/obo/MONDO_0001309	oculomotor nerve paralysis	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Paralysis of the oculomotor nerve.
http://purl.obolibrary.org/obo/MONDO_0001312	acute serous otitis media	http://purl.obolibrary.org/obo/MONDO_0002738	acute transudative otitis media		A acute transudative otitis media with thin, watery and sterile effusion.
http://purl.obolibrary.org/obo/MONDO_0001313	acute allergic serous otitis media	http://purl.obolibrary.org/obo/MONDO_0021202	allergic otitis media		A acute serous otitis media caused by an allergen.
http://purl.obolibrary.org/obo/MONDO_0001314	chondrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0800486	metabolic bone disorder		An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.
http://purl.obolibrary.org/obo/MONDO_0001315	neurocirculatory asthenia	http://purl.obolibrary.org/obo/MONDO_0005618	anxiety disorder		A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.
http://purl.obolibrary.org/obo/MONDO_0001316	streptococcal meningitis	http://purl.obolibrary.org/obo/MONDO_0021680	streptococcal infection		An infectious meningitis caused by infection with Streptococcus.
http://purl.obolibrary.org/obo/MONDO_0001322	pericardium cancer	http://purl.obolibrary.org/obo/MONDO_0021381	neoplasm of pericardium		A malignant neoplasm involving the pericardium.
http://purl.obolibrary.org/obo/MONDO_0001323	infant gynecomastia	http://purl.obolibrary.org/obo/MONDO_0001571	gynecomastia disorder		Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.
http://purl.obolibrary.org/obo/MONDO_0001325	penile cancer	http://purl.obolibrary.org/obo/MONDO_0006895	penile neoplasm		A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.
http://purl.obolibrary.org/obo/MONDO_0001326	dental pulp necrosis	http://purl.obolibrary.org/obo/MONDO_0003394	dental pulp disorder		Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification.
http://purl.obolibrary.org/obo/MONDO_0001328	thyroid hormone resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0045046	inherited thyroid metabolism disease		An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.
http://purl.obolibrary.org/obo/MONDO_0001330	presbyopia	http://purl.obolibrary.org/obo/MONDO_0004892	refractive error		The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.
http://purl.obolibrary.org/obo/MONDO_0001332	palindromic rheumatism	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.
http://purl.obolibrary.org/obo/MONDO_0001334	hypertrichosis of eyelid	http://purl.obolibrary.org/obo/MONDO_0019280	hypertrichosis		A hypertrichosis (disease) that involves the eyelid.
http://purl.obolibrary.org/obo/MONDO_0001335	hypotrichosis of eyelid	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		A hypotrichosis that involves the eyelid.
http://purl.obolibrary.org/obo/MONDO_0001336	familial hyperlipidemia	http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder		An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0001339	portal vein thrombosis	http://purl.obolibrary.org/obo/MONDO_0004634	vein disorder		The formation of a blood clot (thrombus) in the portal vein.
http://purl.obolibrary.org/obo/MONDO_0001340	heart cancer	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		A malignant neoplasm involving the heart
http://purl.obolibrary.org/obo/MONDO_0001341	selective IgA deficiency disease	http://purl.obolibrary.org/obo/MONDO_0001342	dysgammaglobulinemia		A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.
http://purl.obolibrary.org/obo/MONDO_0001342	dysgammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0003739	selective immunoglobulin deficiency disease		An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.
http://purl.obolibrary.org/obo/MONDO_0001343	impaired renal function disease	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.
http://purl.obolibrary.org/obo/MONDO_0001345	antidepressant type abuse	http://purl.obolibrary.org/obo/MONDO_0002491	substance abuse		A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.
http://purl.obolibrary.org/obo/MONDO_0001347	facioscapulohumeral muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.
http://purl.obolibrary.org/obo/MONDO_0001350	parametrium malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0001108	broad ligament malignant neoplasm		A malignant neoplasm involving the parametrium.
http://purl.obolibrary.org/obo/MONDO_0001352	round ligament malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0045044	ligament disorder		A malignant neoplasm involving the round ligament of uterus.
http://purl.obolibrary.org/obo/MONDO_0001353	Bordetella parapertussis infectious disease	http://purl.obolibrary.org/obo/MONDO_0037872	bordetellosis		Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.
http://purl.obolibrary.org/obo/MONDO_0001355	ocular siderosis	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A hemosiderosis that involves the camera-type eye.
http://purl.obolibrary.org/obo/MONDO_0001356	iron deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.
http://purl.obolibrary.org/obo/MONDO_0001357	hypochromic anemia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.
http://purl.obolibrary.org/obo/MONDO_0001358	bronchial disorder	http://purl.obolibrary.org/obo/MONDO_0000270	lower respiratory tract disorder		A disease involving the bronchus.
http://purl.obolibrary.org/obo/MONDO_0001361	spontaneous ocular nystagmus	http://purl.obolibrary.org/obo/MONDO_0004843	pathologic nystagmus		Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
http://purl.obolibrary.org/obo/MONDO_0001367	chronic congestive splenomegaly	http://purl.obolibrary.org/obo/MONDO_0037251	congestive splenomegaly		Chronic form of congestive splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0001369	chronic laryngitis	http://purl.obolibrary.org/obo/MONDO_0002647	laryngitis		Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.
http://purl.obolibrary.org/obo/MONDO_0001370	pericardial effusion	http://purl.obolibrary.org/obo/MONDO_0000474	pericardium disorder		Fluid collection within the pericardial sac, usually due to inflammation.
http://purl.obolibrary.org/obo/MONDO_0001371	protein-energy malnutrition	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		A nutritional deficit that is caused by inadequate protein or calorie intake.
http://purl.obolibrary.org/obo/MONDO_0001372	bladder neck cancer	http://purl.obolibrary.org/obo/MONDO_0001187	urinary bladder cancer		A malignant neoplasm involving the neck of urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0001374	bladder sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant mesenchymal cell neoplasm that affects the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0001375	bladder trigone cancer	http://purl.obolibrary.org/obo/MONDO_0001380	bladder dome cancer		A malignant neoplasm involving the trigone of urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0001378	urachus cancer	http://purl.obolibrary.org/obo/MONDO_0001187	urinary bladder cancer		A malignant neoplasm involving the urachus.
http://purl.obolibrary.org/obo/MONDO_0001379	ureteric orifice cancer	http://purl.obolibrary.org/obo/MONDO_0008627	ureter cancer		A malignant neoplasm involving the ureteral orifice.
http://purl.obolibrary.org/obo/MONDO_0001380	bladder dome cancer	http://purl.obolibrary.org/obo/MONDO_0001187	urinary bladder cancer		Cancer of the upper, convex surface of the bladder.
http://purl.obolibrary.org/obo/MONDO_0001381	bladder lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		A lymphoma that involves the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0001382	hepatorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant.
http://purl.obolibrary.org/obo/MONDO_0001383	degenerative myopia	http://purl.obolibrary.org/obo/MONDO_0004884	eye degenerative disorder		Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.
http://purl.obolibrary.org/obo/MONDO_0001384	myopia	http://purl.obolibrary.org/obo/MONDO_0100581	ocular growth disorder		The condition in which the individual does not see far distances clearly.
http://purl.obolibrary.org/obo/MONDO_0001385	cortical blindness	http://purl.obolibrary.org/obo/MONDO_0003584	visual cortex disorder		Visual impairment due to visual cortex dysfunction.
http://purl.obolibrary.org/obo/MONDO_0001386	visual epilepsy	http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy		Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'
http://purl.obolibrary.org/obo/MONDO_0001387	penile sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.
http://purl.obolibrary.org/obo/MONDO_0001388	glans penis cancer	http://purl.obolibrary.org/obo/MONDO_0001325	penile cancer		A malignant neoplasm involving the glans penis.
http://purl.obolibrary.org/obo/MONDO_0001391	indeterminate leprosy	http://purl.obolibrary.org/obo/MONDO_0005124	leprosy		A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.
http://purl.obolibrary.org/obo/MONDO_0001397	mononeuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.
http://purl.obolibrary.org/obo/MONDO_0001398	ureter benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0004180	benign urinary system neoplasm		Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.
http://purl.obolibrary.org/obo/MONDO_0001399	ureter leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0001400	schwannoma of ureter	http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system		A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.
http://purl.obolibrary.org/obo/MONDO_0001402	vaginal cancer	http://purl.obolibrary.org/obo/MONDO_0021050	vaginal neoplasm		A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.
http://purl.obolibrary.org/obo/MONDO_0001403	labium majus cancer	http://purl.obolibrary.org/obo/MONDO_0002898	skin cancer		A malignant neoplasm involving the labium majora.
http://purl.obolibrary.org/obo/MONDO_0001404	ecthyma	http://purl.obolibrary.org/obo/MONDO_0004592	impetigo		An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0001405	dermatophytosis of groin and perianal area	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.
http://purl.obolibrary.org/obo/MONDO_0001406	peripheral nervous system neoplasm	http://purl.obolibrary.org/obo/MONDO_0021248	nervous system neoplasm		A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.
http://purl.obolibrary.org/obo/MONDO_0001407	tracheal cancer	http://purl.obolibrary.org/obo/MONDO_0021210	trachea neoplasm		A malignant neoplasm involving the trachea
http://purl.obolibrary.org/obo/MONDO_0001408	ischemic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		Neuropathy that is caused by inadequate blood supply.
http://purl.obolibrary.org/obo/MONDO_0001409	esophagitis	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		An acute or chronic inflammatory disease affecting the esophageal wall.
http://purl.obolibrary.org/obo/MONDO_0001410	postmenopausal atrophic vaginitis	http://purl.obolibrary.org/obo/MONDO_0002234	vaginitis		Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.
http://purl.obolibrary.org/obo/MONDO_0001411	synostosis	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.
http://purl.obolibrary.org/obo/MONDO_0001413	ulceroglandular tularemia	http://purl.obolibrary.org/obo/MONDO_0018077	tularemia		A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.
http://purl.obolibrary.org/obo/MONDO_0001414	osteopoikilosis	http://purl.obolibrary.org/obo/MONDO_0002933	osteosclerosis		A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.
http://purl.obolibrary.org/obo/MONDO_0001415	atrophy of testis	http://purl.obolibrary.org/obo/MONDO_0002329	testicular disorder		Loss of testicular volume.
http://purl.obolibrary.org/obo/MONDO_0001416	female reproductive organ cancer	http://purl.obolibrary.org/obo/MONDO_0002149	reproductive system cancer		A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0001417	tracheal lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.
http://purl.obolibrary.org/obo/MONDO_0001418	trachea sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare malignant soft tissue neoplasm that arises from the trachea.
http://purl.obolibrary.org/obo/MONDO_0001419	trachea squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor.
http://purl.obolibrary.org/obo/MONDO_0001420	trigeminal nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0003543	trigeminal nerve disorder		Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.
http://purl.obolibrary.org/obo/MONDO_0001421	frontal lobe neoplasm	http://purl.obolibrary.org/obo/MONDO_0021374	neoplasm of cerebral hemisphere		A neoplasm involving a frontal lobe.
http://purl.obolibrary.org/obo/MONDO_0001422	primary aldosteronism	http://purl.obolibrary.org/obo/MONDO_0003009	hyperaldosteronism		An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.
http://purl.obolibrary.org/obo/MONDO_0001426	mediastinum neurofibroma	http://purl.obolibrary.org/obo/MONDO_0016755	neurofibroma		A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.
http://purl.obolibrary.org/obo/MONDO_0001427	Dieulafoy lesion	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.
http://purl.obolibrary.org/obo/MONDO_0001429	transient arthropathy	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Arthropathy that is not permanent.
http://purl.obolibrary.org/obo/MONDO_0001431	toxic or nutritional optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005885	optic neuritis		A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.
http://purl.obolibrary.org/obo/MONDO_0001433	vaginal disorder	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0001436	hemosiderosis	http://purl.obolibrary.org/obo/MONDO_0002279	iron metabolism disease		Accumulation of iron in internal organs.
http://purl.obolibrary.org/obo/MONDO_0001437	pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.
http://purl.obolibrary.org/obo/MONDO_0001441	pica disease	http://purl.obolibrary.org/obo/MONDO_0005451	eating disorder		An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.
http://purl.obolibrary.org/obo/MONDO_0001442	dysthymic disorder	http://purl.obolibrary.org/obo/MONDO_0005371	mood disorder		A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression.
http://purl.obolibrary.org/obo/MONDO_0001443	tympanosclerosis	http://purl.obolibrary.org/obo/MONDO_0003648	tympanic membrane disorder		The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.
http://purl.obolibrary.org/obo/MONDO_0001444	Chagas disease	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.
http://purl.obolibrary.org/obo/MONDO_0001449	lymphocytic choriomeningitis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)
http://purl.obolibrary.org/obo/MONDO_0001451	peripheral retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0004580	retinal degeneration		Degeneration of the peripheral retina.
http://purl.obolibrary.org/obo/MONDO_0001458	ulnar nerve lesion	http://purl.obolibrary.org/obo/MONDO_0024334	peripheral nerve lesion		A peripheral nerve lesion that involves the ulnar nerve.
http://purl.obolibrary.org/obo/MONDO_0001459	radial neuropathy	http://purl.obolibrary.org/obo/MONDO_0006683	brachial plexus neuropathy		Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.
http://purl.obolibrary.org/obo/MONDO_0001461	tinea corporis	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.
http://purl.obolibrary.org/obo/MONDO_0001462	descending colon cancer	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		A malignant neoplasm involving the descending colon.
http://purl.obolibrary.org/obo/MONDO_0001463	splenic flexure cancer	http://purl.obolibrary.org/obo/MONDO_0001462	descending colon cancer		A malignant neoplasm involving the splenic flexure of colon.
http://purl.obolibrary.org/obo/MONDO_0001464	sigmoid colon cancer	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		A malignant neoplasm involving the sigmoid colon.
http://purl.obolibrary.org/obo/MONDO_0001470	anal margin squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006082	anal squamous cell carcinoma		A squamous cell carcinoma arising from the perianal skin.
http://purl.obolibrary.org/obo/MONDO_0001471	histoplasmosis meningitis	http://purl.obolibrary.org/obo/MONDO_0006764	fungal meningitis		An infectious meningitis caused by infection with Histoplasma capsulatum.
http://purl.obolibrary.org/obo/MONDO_0001472	testicular lymphoma	http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer		A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.
http://purl.obolibrary.org/obo/MONDO_0001474	chronic salpingo-oophoritis	http://purl.obolibrary.org/obo/MONDO_0003617	chronic salpingitis		Chronic form of salpingo-oophoritis.
http://purl.obolibrary.org/obo/MONDO_0001475	neutropenia	http://purl.obolibrary.org/obo/MONDO_0001609	agranulocytosis		A decrease in the number of neutrophils found in the blood.
http://purl.obolibrary.org/obo/MONDO_0001476	coloboma	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		An abnormality in which a part of a structure in one or both eyes is missing.
http://purl.obolibrary.org/obo/MONDO_0001478	anisometropia	http://purl.obolibrary.org/obo/MONDO_0004892	refractive error		A condition of an inequality of refractive power of the two eyes.
http://purl.obolibrary.org/obo/MONDO_0001479	cutaneous diphtheria	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.
http://purl.obolibrary.org/obo/MONDO_0001481	femoral vein thrombophlebitis	http://purl.obolibrary.org/obo/MONDO_0002800	thrombophlebitis		A thrombophlebitis that involves the femoral vein.
http://purl.obolibrary.org/obo/MONDO_0001482	testicular leukemia	http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer		A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03
http://purl.obolibrary.org/obo/MONDO_0001484	paranoid schizophrenia	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.
http://purl.obolibrary.org/obo/MONDO_0001485	atypical depressive disorder	http://purl.obolibrary.org/obo/MONDO_0005371	mood disorder		A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.
http://purl.obolibrary.org/obo/MONDO_0001487	intrahepatic bile duct cancer	http://purl.obolibrary.org/obo/MONDO_0003059	bile duct cancer		A cancer that involves the intrahepatic bile duct.
http://purl.obolibrary.org/obo/MONDO_0001490	corneal granular dystrophy	http://purl.obolibrary.org/obo/MONDO_0000764	epithelial-stromal TGFBI dystrophy		A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.
http://purl.obolibrary.org/obo/MONDO_0001491	cough variant asthma	http://purl.obolibrary.org/obo/MONDO_0004979	asthma		An asthma that is characterized by chronic nonproductive cough without shortness of breath.
http://purl.obolibrary.org/obo/MONDO_0001493	chronic pulmonary heart disease	http://purl.obolibrary.org/obo/MONDO_0004596	cor pulmonale		Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.
http://purl.obolibrary.org/obo/MONDO_0001495	hematocele of tunica vaginalis testis	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.
http://purl.obolibrary.org/obo/MONDO_0001498	varicocele	http://purl.obolibrary.org/obo/MONDO_0004869	pelvic varices		A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.
http://purl.obolibrary.org/obo/MONDO_0001499	retroperitoneal lymphoma	http://purl.obolibrary.org/obo/MONDO_0005941	retroperitoneal cancer		A lymphoma that involves the retroperitoneal space.
http://purl.obolibrary.org/obo/MONDO_0001501	retroperitoneal sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A sarcoma involving a retroperitoneal space.
http://purl.obolibrary.org/obo/MONDO_0001502	retroperitoneum carcinoma	http://purl.obolibrary.org/obo/MONDO_0005941	retroperitoneal cancer		A carcinoma that arises from epithelial cells of the retroperitoneal space.
http://purl.obolibrary.org/obo/MONDO_0001504	fetishistic disorder	http://purl.obolibrary.org/obo/MONDO_0000596	paraphilic disorder		A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects (the "fetish").
http://purl.obolibrary.org/obo/MONDO_0001505	alcoholic hepatitis	http://purl.obolibrary.org/obo/MONDO_0002251	hepatitis		Acute hepatitis resulting from ingestion of alcohol.
http://purl.obolibrary.org/obo/MONDO_0001507	viral labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0021666	ear infection		An labyrinthitis caused by infection with Viruses.
http://purl.obolibrary.org/obo/MONDO_0001508	patulous eustachian tube	http://purl.obolibrary.org/obo/MONDO_0004866	eustachian tube disorder		A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.
http://purl.obolibrary.org/obo/MONDO_0001509	endocrine exophthalmos	http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa		Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease.
http://purl.obolibrary.org/obo/MONDO_0001514	prolapse of urethra	http://purl.obolibrary.org/obo/MONDO_0004184	urethral disorder		Prolapse of the urethral mucosa from the exterior urethral opening.
http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0001517	dysentery	http://purl.obolibrary.org/obo/MONDO_0000916	intestinal infectious disease		Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration.
http://purl.obolibrary.org/obo/MONDO_0001519	entropion	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0001520	kleptomania	http://purl.obolibrary.org/obo/MONDO_0001162	impulse control disorder		A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.
http://purl.obolibrary.org/obo/MONDO_0001521	intermittent explosive disorder	http://purl.obolibrary.org/obo/MONDO_0001162	impulse control disorder		A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.
http://purl.obolibrary.org/obo/MONDO_0001522	pyromania	http://purl.obolibrary.org/obo/MONDO_0001162	impulse control disorder		A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.
http://purl.obolibrary.org/obo/MONDO_0001526	labia minora cancer	http://purl.obolibrary.org/obo/MONDO_0002898	skin cancer		A malignant neoplasm that affects the labia minora.
http://purl.obolibrary.org/obo/MONDO_0001528	vulva cancer	http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm		A primary or metastatic malignant neoplasm involving the vulva.
http://purl.obolibrary.org/obo/MONDO_0001529	pancytopenia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		A finding of low numbers of red and white blood cells and platelets in the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0001531	blood coagulation disease	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.
http://purl.obolibrary.org/obo/MONDO_0001532	capillariasis	http://purl.obolibrary.org/obo/MONDO_0005745	Enoplea infectious disease		A infectious disease involving the Capillaria.
http://purl.obolibrary.org/obo/MONDO_0001535	vagus nerve disorder	http://purl.obolibrary.org/obo/MONDO_0002639	glossopharyngeal nerve disorder		A disease involving the vagus nerve.
http://purl.obolibrary.org/obo/MONDO_0001536	vaginal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0001537	tuberculous epididymitis	http://purl.obolibrary.org/obo/MONDO_0006845	male genital tuberculosis		An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.
http://purl.obolibrary.org/obo/MONDO_0001538	retinal ischemia	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A ischemic disease that involves the retina.
http://purl.obolibrary.org/obo/MONDO_0001539	retinal perforation	http://purl.obolibrary.org/obo/MONDO_0008375	retinal detachment		A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters.
http://purl.obolibrary.org/obo/MONDO_0001540	bagassosis	http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease		An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.
http://purl.obolibrary.org/obo/MONDO_0001541	plantar nerve lesion	http://purl.obolibrary.org/obo/MONDO_0001543	lesion of sciatic nerve		A peripheral nerve lesion that involves the plantar nerve.
http://purl.obolibrary.org/obo/MONDO_0001542	common peroneal nerve lesion	http://purl.obolibrary.org/obo/MONDO_0004797	mononeuritis of lower limb		A peripheral nerve lesion that involves the common fibular nerve.
http://purl.obolibrary.org/obo/MONDO_0001543	lesion of sciatic nerve	http://purl.obolibrary.org/obo/MONDO_0024334	peripheral nerve lesion		A peripheral nerve lesion that involves the sciatic nerve.
http://purl.obolibrary.org/obo/MONDO_0001548	hepatic coma	http://purl.obolibrary.org/obo/MONDO_0001711	hepatic encephalopathy		A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)
http://purl.obolibrary.org/obo/MONDO_0001549	hemolytic-uremic syndrome	http://purl.obolibrary.org/obo/MONDO_0001531	blood coagulation disease		Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.
http://purl.obolibrary.org/obo/MONDO_0001552	dyscalculia	http://purl.obolibrary.org/obo/MONDO_0004681	learning disability		A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.
http://purl.obolibrary.org/obo/MONDO_0001553	phacolytic glaucoma	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.
http://purl.obolibrary.org/obo/MONDO_0001554	phacogenic glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		Secondary glaucoma caused by either excessive size or spheric shape of the lens.
http://purl.obolibrary.org/obo/MONDO_0001555	neonatal thyrotoxicosis	http://purl.obolibrary.org/obo/MONDO_0010138	thyrotoxicosis		A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins.
http://purl.obolibrary.org/obo/MONDO_0001556	urethral obstruction	http://purl.obolibrary.org/obo/MONDO_0004184	urethral disorder		Blockage of the normal flow of urine in the urethra.
http://purl.obolibrary.org/obo/MONDO_0001557	olecranon bursitis	http://purl.obolibrary.org/obo/MONDO_0002471	bursitis		A bursitis that involves the olecranon.
http://purl.obolibrary.org/obo/MONDO_0001558	Potter sequence	http://purl.obolibrary.org/obo/MONDO_0005881	oligohydramnios		A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0001560	hypertrophic pyloric stenosis	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.
http://purl.obolibrary.org/obo/MONDO_0001561	pyloric stenosis	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.
http://purl.obolibrary.org/obo/MONDO_0001563	vestibulocochlear nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the vestibulocochlear nerve.
http://purl.obolibrary.org/obo/MONDO_0001564	binocular vision disease	http://purl.obolibrary.org/obo/MONDO_0021084	vision disorder		Any inability to efficiently utilize and/or sustain binocular vision.
http://purl.obolibrary.org/obo/MONDO_0001566	hypercalcemia disease	http://purl.obolibrary.org/obo/MONDO_0005557	calcium metabolic disease		Abnormally high concentration of calcium in the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0001567	nephrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.
http://purl.obolibrary.org/obo/MONDO_0001568	mixed receptive-expressive language disorder	http://purl.obolibrary.org/obo/MONDO_0004750	language disorder		A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).
http://purl.obolibrary.org/obo/MONDO_0001569	acoustic neuroma	http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma		A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.
http://purl.obolibrary.org/obo/MONDO_0001571	gynecomastia disorder	http://purl.obolibrary.org/obo/MONDO_0002145	disorder of sexual differentiation		Development of breast tissue in males.
http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma	http://purl.obolibrary.org/obo/MONDO_0006106	benign smooth muscle neoplasm		A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0001574	capillary disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A disease involving a capillary.
http://purl.obolibrary.org/obo/MONDO_0001575	chronic gonococcal salpingitis	http://purl.obolibrary.org/obo/MONDO_0003617	chronic salpingitis		Chronic form of gonococcal salpingitis.
http://purl.obolibrary.org/obo/MONDO_0001576	telangiectasis	http://purl.obolibrary.org/obo/MONDO_0021658	vascular ectasia		Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.
http://purl.obolibrary.org/obo/MONDO_0001577	respiratory syncytial virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0024352	viral respiratory tract infection		Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.
http://purl.obolibrary.org/obo/MONDO_0001580	lacrimal duct cancer	http://purl.obolibrary.org/obo/MONDO_0002460	lacrimal system cancer		A primary or metastatic malignant neoplasm affecting the lacrimal duct.
http://purl.obolibrary.org/obo/MONDO_0001585	hallucinogen abuse	http://purl.obolibrary.org/obo/MONDO_0002491	substance abuse		A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.
http://purl.obolibrary.org/obo/MONDO_0001586	mucopolysaccharidosis type 1	http://purl.obolibrary.org/obo/MONDO_0019249	mucopolysaccharidosis		The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).
http://purl.obolibrary.org/obo/MONDO_0001590	quadriplegia	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		Paralysis of all four limbs.
http://purl.obolibrary.org/obo/MONDO_0001593	rectal disorder	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		A disease that involves the rectum.
http://purl.obolibrary.org/obo/MONDO_0001594	Achilles bursitis	http://purl.obolibrary.org/obo/MONDO_0045004	skeletal ligament disorder		An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.
http://purl.obolibrary.org/obo/MONDO_0001595	choreatic disease	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.
http://purl.obolibrary.org/obo/MONDO_0001596	hypochondriasis	http://purl.obolibrary.org/obo/MONDO_0003117	somatoform disorder		A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.
http://purl.obolibrary.org/obo/MONDO_0001597	submandibular gland disorder	http://purl.obolibrary.org/obo/MONDO_0001142	salivary gland disorder		A disease involving the submandibular gland.
http://purl.obolibrary.org/obo/MONDO_0001598	benign lymphoepithelial lesion of salivary gland	http://purl.obolibrary.org/obo/MONDO_0001142	salivary gland disorder		A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.
http://purl.obolibrary.org/obo/MONDO_0001600	mucocele of salivary gland	http://purl.obolibrary.org/obo/MONDO_0001142	salivary gland disorder		A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.
http://purl.obolibrary.org/obo/MONDO_0001601	Plasmodium ovale malaria	http://purl.obolibrary.org/obo/MONDO_0005136	malaria		An malaria caused by infection with Plasmodium ovale.
http://purl.obolibrary.org/obo/MONDO_0001602	labia minora carcinoma	http://purl.obolibrary.org/obo/MONDO_0005215	vulvar carcinoma		A carcinoma that arises from the labia minora.
http://purl.obolibrary.org/obo/MONDO_0001606	central nervous system leukemia	http://purl.obolibrary.org/obo/MONDO_0005059	leukemia		Leukemia infiltrating the central nervous system structures.
http://purl.obolibrary.org/obo/MONDO_0001608	vagus nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002638	glossopharyngeal nerve neoplasm		A neoplasm involving a vagus nerve.
http://purl.obolibrary.org/obo/MONDO_0001609	agranulocytosis	http://purl.obolibrary.org/obo/MONDO_0003785	leukopenia		A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0001610	acute dacryocystitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of dacryocystitis.
http://purl.obolibrary.org/obo/MONDO_0001612	carotid stenosis	http://purl.obolibrary.org/obo/MONDO_0005269	carotid artery disorder		A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.
http://purl.obolibrary.org/obo/MONDO_0001613	vertebrobasilar insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder		Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.
http://purl.obolibrary.org/obo/MONDO_0001615	epidemic keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0023865	corneal infection		Keratoconjunctivitis resulting from infection by adenoviruses.
http://purl.obolibrary.org/obo/MONDO_0001616	lobomycosis	http://purl.obolibrary.org/obo/MONDO_0002040	dermatomycosis		A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.
http://purl.obolibrary.org/obo/MONDO_0001617	transient global amnesia	http://purl.obolibrary.org/obo/MONDO_0001152	amnestic disorder		A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event.
http://purl.obolibrary.org/obo/MONDO_0001620	louse-borne relapsing fever	http://purl.obolibrary.org/obo/MONDO_0019633	relapsing fever		An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.
http://purl.obolibrary.org/obo/MONDO_0001621	tick-borne relapsing fever	http://purl.obolibrary.org/obo/MONDO_0019633	relapsing fever		An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.
http://purl.obolibrary.org/obo/MONDO_0001624	acute sphenoidal sinusitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of sphenoid sinusitis.
http://purl.obolibrary.org/obo/MONDO_0001625	corpus luteum cyst	http://purl.obolibrary.org/obo/MONDO_0003282	ovarian cyst		A ovarian cyst (disease) that involves the corpus luteum.
http://purl.obolibrary.org/obo/MONDO_0001627	dementia	http://purl.obolibrary.org/obo/MONDO_0002039	cognitive disorder		Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.
http://purl.obolibrary.org/obo/MONDO_0001628	tinea unguium	http://purl.obolibrary.org/obo/MONDO_0024487	nail infection		A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.
http://purl.obolibrary.org/obo/MONDO_0001630	branch retinal artery occlusion	http://purl.obolibrary.org/obo/MONDO_0006948	retinal artery occlusion		An occlusion of a branch of the retinal artery.
http://purl.obolibrary.org/obo/MONDO_0001631	vertebral artery insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder		A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.
http://purl.obolibrary.org/obo/MONDO_0001632	intracranial arteriosclerosis	http://purl.obolibrary.org/obo/MONDO_0002277	arteriosclerosis disorder		Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.
http://purl.obolibrary.org/obo/MONDO_0001633	central retinal artery occlusion	http://purl.obolibrary.org/obo/MONDO_0020673	arterial occlusion		Blockage of the central retinal artery.
http://purl.obolibrary.org/obo/MONDO_0001634	bladder leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0001635	bladder squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0001825	squamous papilloma		A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium.
http://purl.obolibrary.org/obo/MONDO_0001640	gonococcal spondylitis	http://purl.obolibrary.org/obo/MONDO_0004277	gonorrhea		An spondylitis caused by infection with Neisseria gonorrhoeae.
http://purl.obolibrary.org/obo/MONDO_0001641	severe pre-eclampsia	http://purl.obolibrary.org/obo/MONDO_0005081	preeclampsia		Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.
http://purl.obolibrary.org/obo/MONDO_0001642	hordeolum externum	http://purl.obolibrary.org/obo/MONDO_0005800	hordeolum		A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis.
http://purl.obolibrary.org/obo/MONDO_0001644	acute proliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.
http://purl.obolibrary.org/obo/MONDO_0001645	crescentic glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0001644	acute proliferative glomerulonephritis		A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.
http://purl.obolibrary.org/obo/MONDO_0001646	benign secondary hypertension	http://purl.obolibrary.org/obo/MONDO_0001200	secondary hypertension		Mild to moderate high blood pressure that is caused by an underlying medical condition.
http://purl.obolibrary.org/obo/MONDO_0001648	esophageal candidiasis	http://purl.obolibrary.org/obo/MONDO_0002026	candidiasis		Esophagitis resulting from Candida.
http://purl.obolibrary.org/obo/MONDO_0001649	fungal esophagitis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.
http://purl.obolibrary.org/obo/MONDO_0001650	acute cystitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.
http://purl.obolibrary.org/obo/MONDO_0001651	scrotum squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.
http://purl.obolibrary.org/obo/MONDO_0001652	scrotum melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		A melanoma (disease) that involves the scrotum.
http://purl.obolibrary.org/obo/MONDO_0001653	prepuce cancer	http://purl.obolibrary.org/obo/MONDO_0002898	skin cancer		A malignant neoplasm involving the prepuce.
http://purl.obolibrary.org/obo/MONDO_0001654	spermatic cord cancer	http://purl.obolibrary.org/obo/MONDO_0005836	male reproductive organ cancer		A malignant neoplasm involving the spermatic cord.
http://purl.obolibrary.org/obo/MONDO_0001656	megaesophagus	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		An abnormal dilation of the esophagus not due to obstruction.
http://purl.obolibrary.org/obo/MONDO_0001657	brain cancer	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A primary or metastatic malignant neoplasm affecting the brain.
http://purl.obolibrary.org/obo/MONDO_0001658	nontoxic goiter	http://purl.obolibrary.org/obo/MONDO_0005397	goiter		Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.
http://purl.obolibrary.org/obo/MONDO_0001660	proliferative diabetic retinopathy	http://purl.obolibrary.org/obo/MONDO_0005266	diabetic retinopathy		Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.
http://purl.obolibrary.org/obo/MONDO_0001661	background diabetic retinopathy	http://purl.obolibrary.org/obo/MONDO_0005266	diabetic retinopathy		An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.
http://purl.obolibrary.org/obo/MONDO_0001665	oculoglandular tularemia	http://purl.obolibrary.org/obo/MONDO_0018077	tularemia		A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.
http://purl.obolibrary.org/obo/MONDO_0001666	retinal dystrophies primarily involving Bruch's membrane	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.
http://purl.obolibrary.org/obo/MONDO_0001670	tooth resorption	http://purl.obolibrary.org/obo/MONDO_0002220	tooth hard tissue disease		Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)
http://purl.obolibrary.org/obo/MONDO_0001671	mucocele of appendix	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Accumulation of mucus within the appendix.
http://purl.obolibrary.org/obo/MONDO_0001672	bronchus cancer	http://purl.obolibrary.org/obo/MONDO_0002807	bronchial neoplasm		A malignant neoplasm involving the bronchus
http://purl.obolibrary.org/obo/MONDO_0001673	diarrheal disease	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		The condition of having at least three loose or liquid bowel movements each day.
http://purl.obolibrary.org/obo/MONDO_0001674	diverticulitis of colon	http://purl.obolibrary.org/obo/MONDO_0004235	diverticulitis		Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.
http://purl.obolibrary.org/obo/MONDO_0001676	erythropoietic protoporphyria	http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria		A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0001678	intestinal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005768	gastrointestinal tuberculosis		A tuberculosis that involves the intestine.
http://purl.obolibrary.org/obo/MONDO_0001680	vaginal mullerian papilloma	http://purl.obolibrary.org/obo/MONDO_0021078	glandular papilloma		A benign papilloma that arises from the vagina in infants and young women.
http://purl.obolibrary.org/obo/MONDO_0001681	diphtheritic cystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.
http://purl.obolibrary.org/obo/MONDO_0001682	diphtheritic peritonitis	http://purl.obolibrary.org/obo/MONDO_0004522	infectious peritonitis		A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/MONDO_0001684	exocrine pancreatic insufficiency	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.
http://purl.obolibrary.org/obo/MONDO_0001691	laryngeal cartilage cancer	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		A malignant neoplasm involving the laryngeal cartilage.
http://purl.obolibrary.org/obo/MONDO_0001692	pedophilia	http://purl.obolibrary.org/obo/MONDO_0000596	paraphilic disorder		A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.
http://purl.obolibrary.org/obo/MONDO_0001697	reading disorder	http://purl.obolibrary.org/obo/MONDO_0004681	learning disability		A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
http://purl.obolibrary.org/obo/MONDO_0001698	tinea profunda	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		A dermatophytosis that involves the deep dermal layers.
http://purl.obolibrary.org/obo/MONDO_0001699	tinea manuum	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		A dermatophytosis that involves the hands.
http://purl.obolibrary.org/obo/MONDO_0001700	megaloblastic anemia	http://purl.obolibrary.org/obo/MONDO_0002281	macrocytic anemia		Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.
http://purl.obolibrary.org/obo/MONDO_0001701	gastrointestinal anthrax	http://purl.obolibrary.org/obo/MONDO_0005119	anthrax infection		An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.
http://purl.obolibrary.org/obo/MONDO_0001702	labia majora carcinoma	http://purl.obolibrary.org/obo/MONDO_0005215	vulvar carcinoma		A carcinoma that arises from the labia majora.
http://purl.obolibrary.org/obo/MONDO_0001703	color vision disorder	http://purl.obolibrary.org/obo/MONDO_0021084	vision disorder		The absence of or defect in the perception of colors.
http://purl.obolibrary.org/obo/MONDO_0001704	vaginal glandular neoplasm	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0001705	pure red-cell aplasia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0001706	cerebral sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0045047	neurosarcoidosis		Sarcoidosis of the cerebrum.
http://purl.obolibrary.org/obo/MONDO_0001707	cardiac sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0019338	sarcoidosis		Sarcoidosis affecting the tissues of the heart.
http://purl.obolibrary.org/obo/MONDO_0001708	pulmonary sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0017026	interstitial lung disease specific to adulthood		Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0001709	hypercalcemic sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0019338	sarcoidosis		Sarcoidosis with a complication of hypercalcemia.
http://purl.obolibrary.org/obo/MONDO_0001710	perforation of bile duct	http://purl.obolibrary.org/obo/MONDO_0002887	bile duct disorder		A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.
http://purl.obolibrary.org/obo/MONDO_0001711	hepatic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.
http://purl.obolibrary.org/obo/MONDO_0001712	alexia	http://purl.obolibrary.org/obo/MONDO_0002039	cognitive disorder		A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.
http://purl.obolibrary.org/obo/MONDO_0001713	inherited aplastic anemia	http://purl.obolibrary.org/obo/MONDO_0015909	aplastic anemia		An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.
http://purl.obolibrary.org/obo/MONDO_0001714	bejel	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.
http://purl.obolibrary.org/obo/MONDO_0001718	scleritis	http://purl.obolibrary.org/obo/MONDO_0001269	scleral disorder		Inflammation of the sclera.
http://purl.obolibrary.org/obo/MONDO_0001719	gonococcal bursitis	http://purl.obolibrary.org/obo/MONDO_0004277	gonorrhea		An bursitis caused by infection with Neisseria gonorrhoeae.
http://purl.obolibrary.org/obo/MONDO_0001720	gonococcal synovitis	http://purl.obolibrary.org/obo/MONDO_0041903	gonococcal infection of joint		An synovitis (disease) caused by infection with Neisseria gonorrhoeae.
http://purl.obolibrary.org/obo/MONDO_0001724	supraglottis cancer	http://purl.obolibrary.org/obo/MONDO_0004427	supraglottis neoplasm		A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0001725	balanitis xerotica obliterans	http://purl.obolibrary.org/obo/MONDO_0006672	balanitis		A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.
http://purl.obolibrary.org/obo/MONDO_0001731	benign vaginal mixed epithelial and mesenchymal neoplasm	http://purl.obolibrary.org/obo/MONDO_0000647	benign vaginal neoplasm		A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.
http://purl.obolibrary.org/obo/MONDO_0001732	trigonitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		Inflammation of the trigone of the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0001734	tuberous sclerosis	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.
http://purl.obolibrary.org/obo/MONDO_0001735	paranasal sinus disorder	http://purl.obolibrary.org/obo/MONDO_0024654	skull disorder		A disease involving the paranasal sinus.
http://purl.obolibrary.org/obo/MONDO_0001737	tetanus neonatorum	http://purl.obolibrary.org/obo/MONDO_0005526	tetanus		A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.
http://purl.obolibrary.org/obo/MONDO_0001739	purulent labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0002008	labyrinthitis		A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.
http://purl.obolibrary.org/obo/MONDO_0001740	cornea squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A rare squamous cell carcinoma that arises from the cornea.
http://purl.obolibrary.org/obo/MONDO_0001741	hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001223	parathyroid gland disorder		Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.
http://purl.obolibrary.org/obo/MONDO_0001743	paranasal sinus lymphoma	http://purl.obolibrary.org/obo/MONDO_0020669	paranasal sinus cancer		A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.
http://purl.obolibrary.org/obo/MONDO_0001744	angle-closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.
http://purl.obolibrary.org/obo/MONDO_0001746	optic disk drusen	http://purl.obolibrary.org/obo/MONDO_0002135	optic nerve disorder		Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)
http://purl.obolibrary.org/obo/MONDO_0001748	maxillary sinus carcinoma	http://purl.obolibrary.org/obo/MONDO_0006850	maxillary sinus neoplasm		A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.
http://purl.obolibrary.org/obo/MONDO_0001749	cortical senile cataract	http://purl.obolibrary.org/obo/MONDO_0045051	cortical cataract		A senile cataract that involves the lens cortex.
http://purl.obolibrary.org/obo/MONDO_0001751	cholestasis	http://purl.obolibrary.org/obo/MONDO_0002887	bile duct disorder		Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.
http://purl.obolibrary.org/obo/MONDO_0001752	alveolar periostitis	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)
http://purl.obolibrary.org/obo/MONDO_0001754	eclampsia	http://purl.obolibrary.org/obo/MONDO_0045048	toxemia of pregnancy		A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.
http://purl.obolibrary.org/obo/MONDO_0001756	frontal sinus cancer	http://purl.obolibrary.org/obo/MONDO_0001757	frontal sinus neoplasm		A malignant neoplasm involving the frontal sinus.
http://purl.obolibrary.org/obo/MONDO_0001757	frontal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0005289	paranasal sinus neoplasm		A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0001758	paranasal sinus sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm that arises from the paranasal sinus.
http://purl.obolibrary.org/obo/MONDO_0001760	photokeratitis	http://purl.obolibrary.org/obo/MONDO_0043459	radiation-induced disorder		Injury to the cornea secondary to ultraviolet light.
http://purl.obolibrary.org/obo/MONDO_0001761	favism	http://purl.obolibrary.org/obo/MONDO_0005775	G6PD deficiency		A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.
http://purl.obolibrary.org/obo/MONDO_0001762	dentine erosion	http://purl.obolibrary.org/obo/MONDO_0002325	tooth erosion, non-bacterial		A tooth erosion, non-bacterial that involves the dentine.
http://purl.obolibrary.org/obo/MONDO_0001763	ethmoid sinus cancer	http://purl.obolibrary.org/obo/MONDO_0001764	ethmoidal sinus neoplasm		A malignant neoplasm involving the ethmoid sinus.
http://purl.obolibrary.org/obo/MONDO_0001764	ethmoidal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0005289	paranasal sinus neoplasm		A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0001773	post-vaccinal encephalitis	http://purl.obolibrary.org/obo/MONDO_0019956	encephalitis		An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)
http://purl.obolibrary.org/obo/MONDO_0001776	prostate calculus	http://purl.obolibrary.org/obo/MONDO_0004828	lower urinary tract calculus		A concretion in the prostate.
http://purl.obolibrary.org/obo/MONDO_0001777	acute gonococcal cystitis	http://purl.obolibrary.org/obo/MONDO_0001650	acute cystitis		Acute form of gonococcal cystitis.
http://purl.obolibrary.org/obo/MONDO_0001778	dermoid cyst of skin	http://purl.obolibrary.org/obo/MONDO_0002531	skin neoplasm		A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.
http://purl.obolibrary.org/obo/MONDO_0001779	vaginal squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0001825	squamous papilloma		A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus.
http://purl.obolibrary.org/obo/MONDO_0001780	premature ejaculation	http://purl.obolibrary.org/obo/MONDO_0000595	sexual disorder		A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.
http://purl.obolibrary.org/obo/MONDO_0001781	uterine corpus adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0021525	benign neoplasm of corpus uteri		A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.
http://purl.obolibrary.org/obo/MONDO_0001782	mature cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.
http://purl.obolibrary.org/obo/MONDO_0001783	endometrial stromal nodule	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.
http://purl.obolibrary.org/obo/MONDO_0001789	neurofibroma of spinal cord	http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm		A neurofibroma that arises from the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0001790	spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0021506	benign neoplasm of spinal cord		A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.
http://purl.obolibrary.org/obo/MONDO_0001793	excessive tearing	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		Profuse lacrimation.
http://purl.obolibrary.org/obo/MONDO_0001794	Pthirus pubis infestation	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.
http://purl.obolibrary.org/obo/MONDO_0001795	plantar wart	http://purl.obolibrary.org/obo/MONDO_0024666	benign epithelial skin neoplasm		A wart in the plantar surface of the foot. It is caused by human papillomavirus.
http://purl.obolibrary.org/obo/MONDO_0001797	chancroid	http://purl.obolibrary.org/obo/MONDO_0006926	haemophilus infectious disease		Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.
http://purl.obolibrary.org/obo/MONDO_0001803	myringitis bullosa hemorrhagica	http://purl.obolibrary.org/obo/MONDO_0003648	tympanic membrane disorder		A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.
http://purl.obolibrary.org/obo/MONDO_0001806	vaginal squamous tumor	http://purl.obolibrary.org/obo/MONDO_0021050	vaginal neoplasm		A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0001810	hypoglossal nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the hypoglossal nerve.
http://purl.obolibrary.org/obo/MONDO_0001811	tetanic cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract resulting from hypocalcemia.
http://purl.obolibrary.org/obo/MONDO_0001817	acute closed-angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of angle-closure glaucoma.
http://purl.obolibrary.org/obo/MONDO_0001818	facial neuralgia	http://purl.obolibrary.org/obo/MONDO_0002098	facial nerve disorder		Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.
http://purl.obolibrary.org/obo/MONDO_0001820	focal labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0002008	labyrinthitis		A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.
http://purl.obolibrary.org/obo/MONDO_0001821	hypoactive sexual desire disorder	http://purl.obolibrary.org/obo/MONDO_0000947	psychosexual disorder		A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.
http://purl.obolibrary.org/obo/MONDO_0001822	hypolipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder		Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).
http://purl.obolibrary.org/obo/MONDO_0001823	sick sinus syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.
http://purl.obolibrary.org/obo/MONDO_0001824	polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A disease or disorder affecting more than one nerve.
http://purl.obolibrary.org/obo/MONDO_0001825	squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	papilloma		A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.
http://purl.obolibrary.org/obo/MONDO_0001827	white piedra	http://purl.obolibrary.org/obo/MONDO_0000306	trichosporonosis		A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.
http://purl.obolibrary.org/obo/MONDO_0001828	acquired color blindness	http://purl.obolibrary.org/obo/MONDO_0001703	color vision disorder		Non-heritable difficulty in distinguishing colors.
http://purl.obolibrary.org/obo/MONDO_0001829	lumbosacral plexus lesion	http://purl.obolibrary.org/obo/MONDO_0024432	nerve plexus disorder		A nerve plexus disease that involves the lumbosacral nerve plexus.
http://purl.obolibrary.org/obo/MONDO_0001830	somatization disorder	http://purl.obolibrary.org/obo/MONDO_0003117	somatoform disorder		Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)
http://purl.obolibrary.org/obo/MONDO_0001832	bacterial esophagitis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.
http://purl.obolibrary.org/obo/MONDO_0001833	lacrimal duct obstruction	http://purl.obolibrary.org/obo/MONDO_0044984	nasolacrimal duct disorder		Blockage of the tear duct.
http://purl.obolibrary.org/obo/MONDO_0001834	visual pathway disorder	http://purl.obolibrary.org/obo/MONDO_0021084	vision disorder		A disorder of the neural pathway from the optic nerve to the visual cortex.
http://purl.obolibrary.org/obo/MONDO_0001835	facial paralysis	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis.
http://purl.obolibrary.org/obo/MONDO_0001836	amenorrhea	http://purl.obolibrary.org/obo/MONDO_1060204	menstrual disorder		The absence of menses in a woman who has achieved reproductive age.
http://purl.obolibrary.org/obo/MONDO_0001837	acute gonococcal salpingitis	http://purl.obolibrary.org/obo/MONDO_0001173	acute salpingitis		Acute form of gonococcal salpingitis.
http://purl.obolibrary.org/obo/MONDO_0001838	acute gonococcal prostatitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of gonococcal prostatitis.
http://purl.obolibrary.org/obo/MONDO_0001841	uterine corpus epithelioid leiomyoma	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.
http://purl.obolibrary.org/obo/MONDO_0001842	uterine corpus dissecting leiomyoma	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.
http://purl.obolibrary.org/obo/MONDO_0001844	uterine corpus myxoid leiomyoma	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.
http://purl.obolibrary.org/obo/MONDO_0001845	uterine corpus lipoleiomyoma	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.
http://purl.obolibrary.org/obo/MONDO_0001846	uterine corpus bizarre leiomyoma	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.
http://purl.obolibrary.org/obo/MONDO_0001847	nuclear senile cataract	http://purl.obolibrary.org/obo/MONDO_0045050	nuclear cataract		A senile cataract that involves the lens nucleus.
http://purl.obolibrary.org/obo/MONDO_0001848	Morgagni cataract	http://purl.obolibrary.org/obo/MONDO_0045049	hypermature cataract		A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.
http://purl.obolibrary.org/obo/MONDO_0001852	small intestine lymphoma	http://purl.obolibrary.org/obo/MONDO_0004699	gastrointestinal lymphoma		A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.
http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.
http://purl.obolibrary.org/obo/MONDO_0001857	Brucella canis brucellosis	http://purl.obolibrary.org/obo/MONDO_0005683	brucellosis		A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0001858	Tietze syndrome	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.
http://purl.obolibrary.org/obo/MONDO_0001863	aorta atresia	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
http://purl.obolibrary.org/obo/MONDO_0001866	bipolar I disorder	http://purl.obolibrary.org/obo/MONDO_0004985	bipolar disorder		A bipolar disorder that is characterized by at least one manic or mixed episode.
http://purl.obolibrary.org/obo/MONDO_0001867	phaeohyphomycosis	http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis		An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.
http://purl.obolibrary.org/obo/MONDO_0001868	primary angle-closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001744	angle-closure glaucoma		An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
http://purl.obolibrary.org/obo/MONDO_0001869	paraurethral gland cancer	http://purl.obolibrary.org/obo/MONDO_0002219	paraurethral gland neoplasm		A malignant neoplasm involving the paraurethral gland.
http://purl.obolibrary.org/obo/MONDO_0001870	acute poststreptococcal glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.
http://purl.obolibrary.org/obo/MONDO_0001871	acute diffuse glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.
http://purl.obolibrary.org/obo/MONDO_0001873	geniculate ganglionitis	http://purl.obolibrary.org/obo/MONDO_0021260	sensory ganglionopathy		Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.
http://purl.obolibrary.org/obo/MONDO_0001874	toxic labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0002008	labyrinthitis		A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicylic acid, amiodarone, quinine, cisplatin, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.
http://purl.obolibrary.org/obo/MONDO_0001875	epicondylitis	http://purl.obolibrary.org/obo/MONDO_0002614	bone inflammation disease		Inflammation of the lateral epicondyle.
http://purl.obolibrary.org/obo/MONDO_0001876	renal artery atheroma	http://purl.obolibrary.org/obo/MONDO_0002286	renal artery disease		A atherosclerosis that involves the renal artery.
http://purl.obolibrary.org/obo/MONDO_0001877	infertility due to extratesticular cause	http://purl.obolibrary.org/obo/MONDO_0005372	male infertility		A male infertility disorder caused by conditions external to the testis, such as hormonal imbalances, reproductive tract obstructions, or systemic illness.
http://purl.obolibrary.org/obo/MONDO_0001878	acquired hypertrophic pyloric stenosis	http://purl.obolibrary.org/obo/MONDO_0001560	hypertrophic pyloric stenosis		An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0001879	anus cancer	http://purl.obolibrary.org/obo/MONDO_0006519	rectal cancer		A malignant neoplasm involving the anus
http://purl.obolibrary.org/obo/MONDO_0001881	toxic shock syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria.
http://purl.obolibrary.org/obo/MONDO_0001882	bacteriuria	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.
http://purl.obolibrary.org/obo/MONDO_0001883	blue toe syndrome	http://purl.obolibrary.org/obo/MONDO_0005568	cholesterol embolism		A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.
http://purl.obolibrary.org/obo/MONDO_0001884	abducens nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0020594	abducens nerve disorder		A neoplasm involving a abducens nerve.
http://purl.obolibrary.org/obo/MONDO_0001887	Allen-Masters syndrome	http://purl.obolibrary.org/obo/MONDO_0045043	disorder of uterine broad ligament		A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.
http://purl.obolibrary.org/obo/MONDO_0001888	anus lymphoma	http://purl.obolibrary.org/obo/MONDO_0002166	rectum lymphoma		A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.
http://purl.obolibrary.org/obo/MONDO_0001889	ovarian dysfunction	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		The inability of the ovaries to function.
http://purl.obolibrary.org/obo/MONDO_0001890	pulp erosion	http://purl.obolibrary.org/obo/MONDO_0003394	dental pulp disorder		A tooth erosion, non-bacterial that involves the dental pulp.
http://purl.obolibrary.org/obo/MONDO_0001892	spinal cord lymphoma	http://purl.obolibrary.org/obo/MONDO_0003544	spinal cord cancer		A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.
http://purl.obolibrary.org/obo/MONDO_0001893	spinal cord melanoma	http://purl.obolibrary.org/obo/MONDO_0016747	primary melanoma of the central nervous system		A melanoma (disease) that involves the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0001894	spinal cord sarcoma	http://purl.obolibrary.org/obo/MONDO_0003544	spinal cord cancer		A sarcoma that arises from the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0001895	acute retrobulbar neuritis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of retrobulbar neuritis.
http://purl.obolibrary.org/obo/MONDO_0001896	obstructive hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0001150	hydrocephalus		An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.
http://purl.obolibrary.org/obo/MONDO_0001898	optic choroid disorder	http://purl.obolibrary.org/obo/MONDO_0005552	ocular vascular disorder		A disease involving the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0001901	selective IgG subclass deficiency	http://purl.obolibrary.org/obo/MONDO_0015697	immunoglobulin heavy chain deficiency		A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.
http://purl.obolibrary.org/obo/MONDO_0001902	congenital agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		An instance of agammaglobulinemia that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0001907	adult dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		Dermatomyositis in an adult.
http://purl.obolibrary.org/obo/MONDO_0001909	renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0021568	renal tubule disorder		A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.
http://purl.obolibrary.org/obo/MONDO_0001910	ochronosis disorder	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.
http://purl.obolibrary.org/obo/MONDO_0001911	tracheal calcification	http://purl.obolibrary.org/obo/MONDO_0002567	tracheal disorder		Abnormal deposits of calcium in the tracheal tissue.
http://purl.obolibrary.org/obo/MONDO_0001912	acute frontal sinusitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of frontal sinusitis.
http://purl.obolibrary.org/obo/MONDO_0001913	oligospermia	http://purl.obolibrary.org/obo/MONDO_0005372	male infertility		Decreased number of spermatozoa in the semen.
http://purl.obolibrary.org/obo/MONDO_0001914	scleromalacia perforans	http://purl.obolibrary.org/obo/MONDO_0040699	necrotizing scleritis		A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.
http://purl.obolibrary.org/obo/MONDO_0001916	gastrointestinal tularemia	http://purl.obolibrary.org/obo/MONDO_0018077	tularemia		A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.
http://purl.obolibrary.org/obo/MONDO_0001917	chronic perichondritis of pinna	http://purl.obolibrary.org/obo/MONDO_0002246	perichondritis of auricle		Chronic form of perichondritis of auricle.
http://purl.obolibrary.org/obo/MONDO_0001920	chronic purulent otitis media	http://purl.obolibrary.org/obo/MONDO_0021204	chronic otitis media		Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane.
http://purl.obolibrary.org/obo/MONDO_0001921	chronic atticoantral disease	http://purl.obolibrary.org/obo/MONDO_0001920	chronic purulent otitis media		A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.
http://purl.obolibrary.org/obo/MONDO_0001922	pyoureter	http://purl.obolibrary.org/obo/MONDO_0100338	urinary tract infection		An abscess that is located in the ureter.
http://purl.obolibrary.org/obo/MONDO_0001926	ureteral disorder	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		A non-neoplastic or neoplastic disorder affecting the ureter.
http://purl.obolibrary.org/obo/MONDO_0001927	pulmonary valve insufficiency	http://purl.obolibrary.org/obo/MONDO_0003628	pulmonary valve disorder		Dysfunction of the pulmonary valve characterized by incomplete valve closure.
http://purl.obolibrary.org/obo/MONDO_0001928	suppurative cholangitis	http://purl.obolibrary.org/obo/MONDO_0004789	cholangitis		Cholangitis that is characterized by pyogenic organisms.
http://purl.obolibrary.org/obo/MONDO_0001929	ascending cholangitis	http://purl.obolibrary.org/obo/MONDO_0004789	cholangitis		Acute infection of the bile ducts caused by bacteria ascending from the small intestine.
http://purl.obolibrary.org/obo/MONDO_0001930	acute cholangitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Cholangitis that is both sudden in onset and of a relatively short duration.
http://purl.obolibrary.org/obo/MONDO_0001931	pericholangitis	http://purl.obolibrary.org/obo/MONDO_0004789	cholangitis		Inflammation of the tissue surrounding the biliary ducts.
http://purl.obolibrary.org/obo/MONDO_0001933	endocrine pancreas disorder	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		A disease involving the endocrine pancreas.
http://purl.obolibrary.org/obo/MONDO_0001935	neurogenic arthropathy	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0001938	vulvar dystrophy	http://purl.obolibrary.org/obo/MONDO_0002187	vulvar disease		A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.
http://purl.obolibrary.org/obo/MONDO_0001939	skin epithelioid hemangioma	http://purl.obolibrary.org/obo/MONDO_0003110	skin hemangioma		A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.
http://purl.obolibrary.org/obo/MONDO_0001940	pleuropneumonia	http://purl.obolibrary.org/obo/MONDO_0005249	pneumonia		Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura.
http://purl.obolibrary.org/obo/MONDO_0001941	blindness (disorder)	http://purl.obolibrary.org/obo/MONDO_0021084	vision disorder		The lack of vision. It is caused by neurological or physiological factors.
http://purl.obolibrary.org/obo/MONDO_0001942	generalized anxiety disorder	http://purl.obolibrary.org/obo/MONDO_0005618	anxiety disorder		An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.
http://purl.obolibrary.org/obo/MONDO_0001943	Plasmodium malariae malaria	http://purl.obolibrary.org/obo/MONDO_0005136	malaria		Malaria resulting from infection by Plasmodium malariae.
http://purl.obolibrary.org/obo/MONDO_0001944	mixed malaria	http://purl.obolibrary.org/obo/MONDO_0005136	malaria		A malaria that involves infection with more than one species of Plasmodium at the same time.
http://purl.obolibrary.org/obo/MONDO_0001945	postencephalitic Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.
http://purl.obolibrary.org/obo/MONDO_0001947	suppurative thyroiditis	http://purl.obolibrary.org/obo/MONDO_0004126	thyroiditis		Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.
http://purl.obolibrary.org/obo/MONDO_0001949	acute thyroiditis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of thyroiditis (disease).
http://purl.obolibrary.org/obo/MONDO_0001951	Norwegian scabies	http://purl.obolibrary.org/obo/MONDO_0004525	scabies		A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.
http://purl.obolibrary.org/obo/MONDO_0001952	parietal lobe cancer	http://purl.obolibrary.org/obo/MONDO_0021373	neoplasm of parietal lobe		A malignant neoplasm involving the parietal lobe
http://purl.obolibrary.org/obo/MONDO_0001953	pyuria	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		The presence of excessive white blood cells in the urine as determined by urinalysis.
http://purl.obolibrary.org/obo/MONDO_0001954	thrombophlebitis migrans	http://purl.obolibrary.org/obo/MONDO_0002800	thrombophlebitis		A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations.
http://purl.obolibrary.org/obo/MONDO_0001955	protozoal dysentery	http://purl.obolibrary.org/obo/MONDO_0024270	parasitic intestinal disorder		A dysentery that involves protozoan infection.
http://purl.obolibrary.org/obo/MONDO_0001956	capillary leak syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure.
http://purl.obolibrary.org/obo/MONDO_0001964	chronic tubotympanic suppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0005975	suppurative otitis media		A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.
http://purl.obolibrary.org/obo/MONDO_0001966	chronic closed-angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0001868	primary angle-closure glaucoma		Chronic form of angle-closure glaucoma.
http://purl.obolibrary.org/obo/MONDO_0001967	gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0002146	hypogonadism		A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
http://purl.obolibrary.org/obo/MONDO_0001969	mixed gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0019499	Turner syndrome		A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.
http://purl.obolibrary.org/obo/MONDO_0001971	farmer's lung disease	http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease		A hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs.
http://purl.obolibrary.org/obo/MONDO_0001972	Brucella melitensis brucellosis	http://purl.obolibrary.org/obo/MONDO_0005683	brucellosis		A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.
http://purl.obolibrary.org/obo/MONDO_0001973	Brucella abortus brucellosis	http://purl.obolibrary.org/obo/MONDO_0005683	brucellosis		A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.
http://purl.obolibrary.org/obo/MONDO_0001974	hemangioma of orbit	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma arising from the orbit.
http://purl.obolibrary.org/obo/MONDO_0001975	cavernous hemangioma of orbit	http://purl.obolibrary.org/obo/MONDO_0003155	cavernous hemangioma		A cavernous hemangioma arising from the orbit.
http://purl.obolibrary.org/obo/MONDO_0001976	chorea gravidarum	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)
http://purl.obolibrary.org/obo/MONDO_0001977	ureteral lymphoma	http://purl.obolibrary.org/obo/MONDO_0008627	ureter cancer		A lymphoma that involves the ureter.
http://purl.obolibrary.org/obo/MONDO_0001978	regional ureteric cancer	http://purl.obolibrary.org/obo/MONDO_0006481	ureter carcinoma		Carcinoma of the ureter without spread to any other region.
http://purl.obolibrary.org/obo/MONDO_0001979	dumping syndrome	http://purl.obolibrary.org/obo/MONDO_0004566	postgastrectomy syndrome		A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.
http://purl.obolibrary.org/obo/MONDO_0001982	Niemann-Pick disease	http://purl.obolibrary.org/obo/MONDO_0019255	sphingolipidosis		A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
http://purl.obolibrary.org/obo/MONDO_0001984	candidal paronychia	http://purl.obolibrary.org/obo/MONDO_0002026	candidiasis		A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.
http://purl.obolibrary.org/obo/MONDO_0001985	partial arterial retinal occlusion	http://purl.obolibrary.org/obo/MONDO_0006948	retinal artery occlusion		A partial occlusion of the retinal artery.
http://purl.obolibrary.org/obo/MONDO_0001990	malignant cardiac peripheral nerve sheath neoplasm	http://purl.obolibrary.org/obo/MONDO_0017827	malignant peripheral nerve sheath tumor		A very rare malignant peripheral nerve sheath tumor that arises from the heart.
http://purl.obolibrary.org/obo/MONDO_0001991	malignant cardiac germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020589	cardiac germ cell tumor		A rare malignant germ cell tumor that arises from the pericardium.
http://purl.obolibrary.org/obo/MONDO_0001992	rete testis adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer		A carcinoma that arises from glandular epithelial cells of the rete testis
http://purl.obolibrary.org/obo/MONDO_0001993	seminal vesicle adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer		A carcinoma that arises from glandular epithelial cells of the seminal vesicle
http://purl.obolibrary.org/obo/MONDO_0001994	sphenoidal sinus cancer	http://purl.obolibrary.org/obo/MONDO_0004047	sphenoidal sinus neoplasm		A malignant neoplasm involving the sphenoidal sinus.
http://purl.obolibrary.org/obo/MONDO_0001995	sphenoid sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044705	paranasal sinus squamous cell carcinoma		A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.
http://purl.obolibrary.org/obo/MONDO_0001997	root resorption	http://purl.obolibrary.org/obo/MONDO_0001670	tooth resorption		Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0001998	Foster-Kennedy syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye.
http://purl.obolibrary.org/obo/MONDO_0001999	idiopathic pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. The etiology is unknown.
http://purl.obolibrary.org/obo/MONDO_0002004	atheroembolism of kidney	http://purl.obolibrary.org/obo/MONDO_0005568	cholesterol embolism		A cholesterol embolism that involves the kidney.
http://purl.obolibrary.org/obo/MONDO_0002006	serous labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0002008	labyrinthitis		A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
http://purl.obolibrary.org/obo/MONDO_0002008	labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder		Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.
http://purl.obolibrary.org/obo/MONDO_0002009	major depressive disorder	http://purl.obolibrary.org/obo/MONDO_0002050	depressive disorder		An episode of depression lasting two or more weeks without an intervening episode of mania.
http://purl.obolibrary.org/obo/MONDO_0002010	FG syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.
http://purl.obolibrary.org/obo/MONDO_0002012	methylmalonic acidemia	http://purl.obolibrary.org/obo/MONDO_0000688	inborn organic aciduria		A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
http://purl.obolibrary.org/obo/MONDO_0002013	lymphangioma	http://purl.obolibrary.org/obo/MONDO_0036870	lymphatic vessel neoplasm		A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.
http://purl.obolibrary.org/obo/MONDO_0002014	autosomal recessive Ehlers-Danlos syndrome, vascular type	http://purl.obolibrary.org/obo/MONDO_0017314	Ehlers-Danlos syndrome, vascular type		The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.
http://purl.obolibrary.org/obo/MONDO_0002017	olivopontocerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.
http://purl.obolibrary.org/obo/MONDO_0002021	gingival disorder	http://purl.obolibrary.org/obo/MONDO_0044992	mouth mucosa disorder		A disease involving the gingiva.
http://purl.obolibrary.org/obo/MONDO_0002022	disorder of orbital region	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease that involves the orbital region.
http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.
http://purl.obolibrary.org/obo/MONDO_0002026	candidiasis	http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis		Infection with the organism Candida.
http://purl.obolibrary.org/obo/MONDO_0002027	avoidant personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.
http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.
http://purl.obolibrary.org/obo/MONDO_0002029	chronic gonorrhea of cervix	http://purl.obolibrary.org/obo/MONDO_0002030	chronic cervicitis		Chronic form of gonococcal cervicitis.
http://purl.obolibrary.org/obo/MONDO_0002030	chronic cervicitis	http://purl.obolibrary.org/obo/MONDO_0002345	cervicitis		Chronic inflammation of the cervix.
http://purl.obolibrary.org/obo/MONDO_0002031	cecal disorder	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		Pathological developments in the cecum.
http://purl.obolibrary.org/obo/MONDO_0002032	colon carcinoma	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		A carcinoma that arises from epithelial cells of the colon
http://purl.obolibrary.org/obo/MONDO_0002033	cecum cancer	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		A malignant neoplasm involving the caecum
http://purl.obolibrary.org/obo/MONDO_0002034	cecum lymphoma	http://purl.obolibrary.org/obo/MONDO_0002035	colon lymphoma		An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.
http://purl.obolibrary.org/obo/MONDO_0002035	colon lymphoma	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.
http://purl.obolibrary.org/obo/MONDO_0002036	penile disorder	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002037	pleural disorder	http://purl.obolibrary.org/obo/MONDO_0000270	lower respiratory tract disorder		A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.
http://purl.obolibrary.org/obo/MONDO_0002038	head and neck carcinoma	http://purl.obolibrary.org/obo/MONDO_0005627	head and neck cancer		A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002039	cognitive disorder	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A disease affects cognitive processes.
http://purl.obolibrary.org/obo/MONDO_0002040	dermatomycosis	http://purl.obolibrary.org/obo/MONDO_0000254	cutaneous mycosis		Superficial infections of the skin or its appendages by any of various fungi.
http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infection caused by a fungus.
http://purl.obolibrary.org/obo/MONDO_0002042	mechanical ectropion	http://purl.obolibrary.org/obo/MONDO_0002043	ectropion		An ectropion with a mechanical etiology.
http://purl.obolibrary.org/obo/MONDO_0002043	ectropion	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0002045	communicating hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0001150	hydrocephalus		An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.
http://purl.obolibrary.org/obo/MONDO_0002046	alcohol abuse	http://purl.obolibrary.org/obo/MONDO_0021698	alcohol-related disorders		The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice.
http://purl.obolibrary.org/obo/MONDO_0002048	thrombocytopenia due to immune destruction	http://purl.obolibrary.org/obo/MONDO_0002049	thrombocytopenia		A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).
http://purl.obolibrary.org/obo/MONDO_0002049	thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0002245	blood platelet disease		A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.
http://purl.obolibrary.org/obo/MONDO_0002050	depressive disorder	http://purl.obolibrary.org/obo/MONDO_0005371	mood disorder		A melancholy feeling of sadness and despair.
http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the integumental system.
http://purl.obolibrary.org/obo/MONDO_0002052	lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0004928	lymph node disorder		Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.
http://purl.obolibrary.org/obo/MONDO_0002055	benign eccrine breast spiradenoma	http://purl.obolibrary.org/obo/MONDO_0003448	benign spiradenoma		A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0002056	breast fibroadenoma	http://purl.obolibrary.org/obo/MONDO_0021046	breast fibroepithelial neoplasm		A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.
http://purl.obolibrary.org/obo/MONDO_0002057	breast leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0002058	breast adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.
http://purl.obolibrary.org/obo/MONDO_0002060	intraductal papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	papilloma		An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma.
http://purl.obolibrary.org/obo/MONDO_0002061	intraductal papillary breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0002488	intraductal breast neoplasm		A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002062	breast myofibroblastoma	http://purl.obolibrary.org/obo/MONDO_0040675	myofibroblastoma		A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.
http://purl.obolibrary.org/obo/MONDO_0002064	breast angiomatosis	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.
http://purl.obolibrary.org/obo/MONDO_0002065	benign breast adenomyoepithelioma	http://purl.obolibrary.org/obo/MONDO_0002066	breast adenomyoepithelioma		A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation.
http://purl.obolibrary.org/obo/MONDO_0002066	breast adenomyoepithelioma	http://purl.obolibrary.org/obo/MONDO_0002483	breast myoepithelial tumor		A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.
http://purl.obolibrary.org/obo/MONDO_0002069	female breast axillary tail cancer	http://purl.obolibrary.org/obo/MONDO_0004379	female breast carcinoma		A cancer that involves the UBERON:0035289.
http://purl.obolibrary.org/obo/MONDO_0002070	ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.
http://purl.obolibrary.org/obo/MONDO_0002071	supratentorial cancer	http://purl.obolibrary.org/obo/MONDO_0001657	brain cancer		Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.
http://purl.obolibrary.org/obo/MONDO_0002072	melanotic neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0005462	primitive neuroectodermal tumor		A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.
http://purl.obolibrary.org/obo/MONDO_0002073	malignant pineal area germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003249	pineal gland cancer		A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.
http://purl.obolibrary.org/obo/MONDO_0002074	Behcet syndrome arthropathy	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Arthropathy resulting from Behcet's syndrome.
http://purl.obolibrary.org/obo/MONDO_0002076	pneumothorax	http://purl.obolibrary.org/obo/MONDO_0002037	pleural disorder		Abnormal presence of air in the pleural cavity.
http://purl.obolibrary.org/obo/MONDO_0002078	heart septal defect	http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease		A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.
http://purl.obolibrary.org/obo/MONDO_0002081	musculoskeletal system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the musculoskeletal system.
http://purl.obolibrary.org/obo/MONDO_0002082	endocrine gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002083	Richter transformation	http://purl.obolibrary.org/obo/MONDO_0024882	secondary neoplasm		Transformation of chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) into a more aggressive type of lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying CLL/SLL, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.
http://purl.obolibrary.org/obo/MONDO_0002086	clear cell acanthoma	http://purl.obolibrary.org/obo/MONDO_0002093	acanthoma		An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0002087	peritoneum cancer	http://purl.obolibrary.org/obo/MONDO_0006901	peritoneal neoplasm		A malignant neoplasm involving the peritoneum
http://purl.obolibrary.org/obo/MONDO_0002089	retinal vascular occlusion	http://purl.obolibrary.org/obo/MONDO_0020672	vascular occlusion disorder		An occlusion of the retinal vasculature.
http://purl.obolibrary.org/obo/MONDO_0002090	eccrine sweat gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0002381	sweat gland neoplasm		A neoplasm involving a eccrine sweat gland.
http://purl.obolibrary.org/obo/MONDO_0002092	small intestine leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021501	benign neoplasm of small intestine		A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0002093	acanthoma	http://purl.obolibrary.org/obo/MONDO_0024666	benign epithelial skin neoplasm		A benign skin neoplasm composed of epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0002095	vascular cancer	http://purl.obolibrary.org/obo/MONDO_0021080	blood vessel neoplasm		A malignant neoplasm arising from the blood vessels.
http://purl.obolibrary.org/obo/MONDO_0002096	malignant conjunctival melanoma	http://purl.obolibrary.org/obo/MONDO_0006325	ocular melanoma		A malignant melanoma within the conjunctiva of the eye.
http://purl.obolibrary.org/obo/MONDO_0002098	facial nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the facial nerve.
http://purl.obolibrary.org/obo/MONDO_0002099	Histoplasma capsulatum infectious disease	http://purl.obolibrary.org/obo/MONDO_0018312	histoplasmosis		An disease or disorder caused by infection with Histoplasma capsulatum.
http://purl.obolibrary.org/obo/MONDO_0002100	cardiovascular cancer	http://purl.obolibrary.org/obo/MONDO_0024757	cardiovascular neoplasm		A primary or metastatic malignant neoplasm involving the cardiovascular system.
http://purl.obolibrary.org/obo/MONDO_0002101	facial nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002633	cranial nerve neoplasm		A neoplasm involving a facial nerve.
http://purl.obolibrary.org/obo/MONDO_0002102	cheilitis	http://purl.obolibrary.org/obo/MONDO_0004748	lip disorder		An inflammatory process affecting the lip.
http://purl.obolibrary.org/obo/MONDO_0002103	factitious disorder	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.
http://purl.obolibrary.org/obo/MONDO_0002104	conversion disorder	http://purl.obolibrary.org/obo/MONDO_0003117	somatoform disorder		Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.
http://purl.obolibrary.org/obo/MONDO_0002105	toxic megacolon	http://purl.obolibrary.org/obo/MONDO_0001273	megacolon		An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis.
http://purl.obolibrary.org/obo/MONDO_0002108	thyroid cancer	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		A malignant neoplasm involving the thyroid gland
http://purl.obolibrary.org/obo/MONDO_0002109	pituitary cancer	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.
http://purl.obolibrary.org/obo/MONDO_0002110	adrenal rest tumor	http://purl.obolibrary.org/obo/MONDO_0000383	benign reproductive system neoplasm		A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.
http://purl.obolibrary.org/obo/MONDO_0002112	benign peritoneal mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006362	peritoneal mesothelioma		A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.
http://purl.obolibrary.org/obo/MONDO_0002113	peritoneal carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A peritoneum cancer that is located in the inside of the abdomen.
http://purl.obolibrary.org/obo/MONDO_0002114	pancreas lymphoma	http://purl.obolibrary.org/obo/MONDO_0009831	malignant pancreatic neoplasm		A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.
http://purl.obolibrary.org/obo/MONDO_0002116	malignant exocrine pancreas neoplasm	http://purl.obolibrary.org/obo/MONDO_0021076	pancreatic exocrine neoplasm		A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.
http://purl.obolibrary.org/obo/MONDO_0002117	pancreas sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.
http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the renal system.
http://purl.obolibrary.org/obo/MONDO_0002119	ossifying fibroma	http://purl.obolibrary.org/obo/MONDO_0000631	bone benign neoplasm		A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.
http://purl.obolibrary.org/obo/MONDO_0002120	neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002121	mononeuritis simplex	http://purl.obolibrary.org/obo/MONDO_0002122	neuritis		Neuritis of a single nerve.
http://purl.obolibrary.org/obo/MONDO_0002122	neuritis	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A neuropathy arising from inflammation of one or more nerves.
http://purl.obolibrary.org/obo/MONDO_0002123	calcinosis	http://purl.obolibrary.org/obo/MONDO_0005557	calcium metabolic disease		Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.
http://purl.obolibrary.org/obo/MONDO_0002127	urethral stricture	http://purl.obolibrary.org/obo/MONDO_0001556	urethral obstruction		Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.
http://purl.obolibrary.org/obo/MONDO_0002128	mononeuritis multiplex	http://purl.obolibrary.org/obo/MONDO_0003607	neuritis of upper limb		A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.
http://purl.obolibrary.org/obo/MONDO_0002129	bone cancer	http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm		A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.
http://purl.obolibrary.org/obo/MONDO_0002130	upper limb mononeuronitis	http://purl.obolibrary.org/obo/MONDO_0003607	neuritis of upper limb		A disease affecting a single peripheral nerve of the upper limb.
http://purl.obolibrary.org/obo/MONDO_0002131	jaw cancer	http://purl.obolibrary.org/obo/MONDO_0021580	neoplasm of jaw		A malignant neoplasm involving the jaw skeleton
http://purl.obolibrary.org/obo/MONDO_0002132	skull cancer	http://purl.obolibrary.org/obo/MONDO_0024653	skull neoplasm		A malignant neoplasm involving the skull.
http://purl.obolibrary.org/obo/MONDO_0002133	chronic rheumatic pericarditis	http://purl.obolibrary.org/obo/MONDO_0024655	rheumatic pericarditis		Chronic form of rheumatic pericarditis.
http://purl.obolibrary.org/obo/MONDO_0002134	physiological sexual disorder	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Physiological disturbances in normal sexual performance in either the male or the female.
http://purl.obolibrary.org/obo/MONDO_0002135	optic nerve disorder	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).
http://purl.obolibrary.org/obo/MONDO_0002138	allergic contact dermatitis of eyelid	http://purl.obolibrary.org/obo/MONDO_0006525	allergic contact dermatitis		A allergic contact dermatitis that involves the eyelid.
http://purl.obolibrary.org/obo/MONDO_0002139	sigmoid disease	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		Pathological processes in the sigmoid colon region of the large intestine (intestine, large).
http://purl.obolibrary.org/obo/MONDO_0002140	vagina sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.
http://purl.obolibrary.org/obo/MONDO_0002141	cutaneous undifferentiated pleomorphic sarcoma	http://purl.obolibrary.org/obo/MONDO_0006414	skin sarcoma		An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0002142	undifferentiated pleomorphic sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.
http://purl.obolibrary.org/obo/MONDO_0002143	vaginal yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0016094	vaginal germ cell malignant tumor		A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.
http://purl.obolibrary.org/obo/MONDO_0002145	disorder of sexual differentiation	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A congenital disorder characterized by abnormalities in the development of the sexual characteristics.
http://purl.obolibrary.org/obo/MONDO_0002146	hypogonadism	http://purl.obolibrary.org/obo/MONDO_0002259	gonadal disorder		A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.
http://purl.obolibrary.org/obo/MONDO_0002149	reproductive system cancer	http://purl.obolibrary.org/obo/MONDO_0006054	reproductive system neoplasm		A malignant neoplasm involving the reproductive organ
http://purl.obolibrary.org/obo/MONDO_0002150	hypothalamic disorder	http://purl.obolibrary.org/obo/MONDO_0003081	thalamic disorder		Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.
http://purl.obolibrary.org/obo/MONDO_0002153	telogen effluvium	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.
http://purl.obolibrary.org/obo/MONDO_0002154	trichomoniasis	http://purl.obolibrary.org/obo/MONDO_0002428	protozoa infectious disease		An infection that is caused by Trichomonas.
http://purl.obolibrary.org/obo/MONDO_0002155	cholecystitis	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.
http://purl.obolibrary.org/obo/MONDO_0002156	fallopian tube disorder	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A disease involving the fallopian tube.
http://purl.obolibrary.org/obo/MONDO_0002158	fallopian tube cancer	http://purl.obolibrary.org/obo/MONDO_0021092	fallopian tube neoplasm		A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002159	fallopian tube leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0002162	fallopian tube adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0005636	adenosarcoma		An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.
http://purl.obolibrary.org/obo/MONDO_0002163	thymus lipoma	http://purl.obolibrary.org/obo/MONDO_0021512	benign neoplasm of thymus		A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.
http://purl.obolibrary.org/obo/MONDO_0002165	rectal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005335	colorectal neoplasm		A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.
http://purl.obolibrary.org/obo/MONDO_0002166	rectum lymphoma	http://purl.obolibrary.org/obo/MONDO_0024656	colorectal lymphoma		An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas.
http://purl.obolibrary.org/obo/MONDO_0002167	rectum malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0045070	digestive system melanoma		An aggressive malignant melanocytic neoplasm that arises from the rectum.
http://purl.obolibrary.org/obo/MONDO_0002168	rectum sarcoma	http://purl.obolibrary.org/obo/MONDO_0006519	rectal cancer		A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002169	rectum adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0044937	rectal carcinoma		An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002170	chronic eustachian salpingitis	http://purl.obolibrary.org/obo/MONDO_0021204	chronic otitis media		Chronic form of otosalpingitis.
http://purl.obolibrary.org/obo/MONDO_0002171	giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.
http://purl.obolibrary.org/obo/MONDO_0002172	otosalpingitis	http://purl.obolibrary.org/obo/MONDO_0005441	otitis media		An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.
http://purl.obolibrary.org/obo/MONDO_0002173	neuroma	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.
http://purl.obolibrary.org/obo/MONDO_0002174	preretinal fibrosis	http://purl.obolibrary.org/obo/MONDO_0002175	degeneration of macula and posterior pole		A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)
http://purl.obolibrary.org/obo/MONDO_0002177	hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0002908	glucose metabolism disease		Abnormally high levels of insulin in the blood.
http://purl.obolibrary.org/obo/MONDO_0002178	placenta cancer	http://purl.obolibrary.org/obo/MONDO_0021218	placenta neoplasm		A malignant neoplasm involving the placenta.
http://purl.obolibrary.org/obo/MONDO_0002181	exostosis	http://purl.obolibrary.org/obo/MONDO_0002185	hyperostosis		Non-neoplastic overgrowth of bone.
http://purl.obolibrary.org/obo/MONDO_0002182	communication disorder	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing.
http://purl.obolibrary.org/obo/MONDO_0002183	enthesopathy	http://purl.obolibrary.org/obo/MONDO_0003900	connective tissue disorder		A disorder involving the attachment of a tendon or ligament to a bone
http://purl.obolibrary.org/obo/MONDO_0002184	drug-induced hepatitis	http://purl.obolibrary.org/obo/MONDO_0005359	drug-induced liver injury		Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.
http://purl.obolibrary.org/obo/MONDO_0002185	hyperostosis	http://purl.obolibrary.org/obo/MONDO_0000833	bone remodeling disease		Excessive thickening of bone.
http://purl.obolibrary.org/obo/MONDO_0002186	acute maxillary sinusitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of maxillary sinusitis.
http://purl.obolibrary.org/obo/MONDO_0002187	vulvar disease	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002188	vulvar nodular hidradenoma	http://purl.obolibrary.org/obo/MONDO_0024666	benign epithelial skin neoplasm		A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0002189	nodular hidradenoma	http://purl.obolibrary.org/obo/MONDO_0002805	hidradenoma		A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative.
http://purl.obolibrary.org/obo/MONDO_0002190	vulvar syringoma	http://purl.obolibrary.org/obo/MONDO_0021489	benign neoplasm of sweat gland		A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.
http://purl.obolibrary.org/obo/MONDO_0002191	syringoma	http://purl.obolibrary.org/obo/MONDO_0002381	sweat gland neoplasm		A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.
http://purl.obolibrary.org/obo/MONDO_0002192	vulvar angiokeratoma	http://purl.obolibrary.org/obo/MONDO_0003954	angiokeratoma of Fordyce		An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis.
http://purl.obolibrary.org/obo/MONDO_0002193	Bartholin gland benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021114	Bartholin gland neoplasm		A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002194	vestibular papilloma	http://purl.obolibrary.org/obo/MONDO_0002195	vulvar squamous neoplasm		A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.
http://purl.obolibrary.org/obo/MONDO_0002195	vulvar squamous neoplasm	http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm		A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002197	minor vestibular glands adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present.
http://purl.obolibrary.org/obo/MONDO_0002198	vulvar glandular neoplasm	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002199	benign mixed tumor of the vulva	http://purl.obolibrary.org/obo/MONDO_0000643	vulvar benign neoplasm		A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.
http://purl.obolibrary.org/obo/MONDO_0002200	eccrine mixed tumor of skin	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.
http://purl.obolibrary.org/obo/MONDO_0002201	vulvar trichoepithelioma	http://purl.obolibrary.org/obo/MONDO_0020593	trichoblastoma		A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin.
http://purl.obolibrary.org/obo/MONDO_0002203	constipation disorder	http://purl.obolibrary.org/obo/MONDO_0004880	bowel dysfunction		Irregular and infrequent or difficult evacuation of the bowels.
http://purl.obolibrary.org/obo/MONDO_0002204	transient arthritis	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		Arthritis that is not permanent.
http://purl.obolibrary.org/obo/MONDO_0002205	vulvar melanoma	http://purl.obolibrary.org/obo/MONDO_0006320	non-cutaneous melanoma		A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.
http://purl.obolibrary.org/obo/MONDO_0002206	sweat gland cancer	http://purl.obolibrary.org/obo/MONDO_0002898	skin cancer		A malignant neoplasm that affects the sweat glands.
http://purl.obolibrary.org/obo/MONDO_0002207	vulval Paget disease	http://purl.obolibrary.org/obo/MONDO_0024336	vulvar adenocarcinoma		An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.
http://purl.obolibrary.org/obo/MONDO_0002209	heel spur	http://purl.obolibrary.org/obo/MONDO_0002181	exostosis		A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.
http://purl.obolibrary.org/obo/MONDO_0002211	B cell deficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.
http://purl.obolibrary.org/obo/MONDO_0002212	pneumonic tularemia	http://purl.obolibrary.org/obo/MONDO_0018077	tularemia		A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.
http://purl.obolibrary.org/obo/MONDO_0002214	brain germinoma	http://purl.obolibrary.org/obo/MONDO_0002999	central nervous system germinoma		A germinoma (disease) that involves the brain.
http://purl.obolibrary.org/obo/MONDO_0002216	brain sarcoma	http://purl.obolibrary.org/obo/MONDO_0002217	central nervous system sarcoma		A sarcoma arising from the brain.
http://purl.obolibrary.org/obo/MONDO_0002217	central nervous system sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A sarcoma that arises from the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0002218	temporal lobe cancer	http://purl.obolibrary.org/obo/MONDO_0021372	neoplasm of temporal lobe		A cancer that involves the temporal lobe.
http://purl.obolibrary.org/obo/MONDO_0002219	paraurethral gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm		A neoplasm (disease) that involves the paraurethral gland.
http://purl.obolibrary.org/obo/MONDO_0002221	urethral urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0004177	benign urethral neoplasm		Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003
http://purl.obolibrary.org/obo/MONDO_0002222	urethra leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004177	benign urethral neoplasm		A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0002223	ovarian malignant mesothelioma	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.
http://purl.obolibrary.org/obo/MONDO_0002224	malignant ovarian cyst	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		A cystic cancerous tumor arising from the ovary.
http://purl.obolibrary.org/obo/MONDO_0002225	ovarian sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0002226	tuberculous oophoritis	http://purl.obolibrary.org/obo/MONDO_0006877	oophoritis		An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.
http://purl.obolibrary.org/obo/MONDO_0002227	ovarian lymphoma	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.
http://purl.obolibrary.org/obo/MONDO_0002229	ovarian epithelial tumor	http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm		A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.
http://purl.obolibrary.org/obo/MONDO_0002230	ovarian Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.
http://purl.obolibrary.org/obo/MONDO_0002232	nasal cavity disorder	http://purl.obolibrary.org/obo/MONDO_0004867	upper respiratory tract disorder		A disease involving the nasal cavity.
http://purl.obolibrary.org/obo/MONDO_0002233	enamel caries	http://purl.obolibrary.org/obo/MONDO_0005276	dental caries		A dental caries that involves the enamel.
http://purl.obolibrary.org/obo/MONDO_0002234	vaginitis	http://purl.obolibrary.org/obo/MONDO_0001433	vaginal disorder		A non-infectious or infectious inflammatory process affecting the vagina.
http://purl.obolibrary.org/obo/MONDO_0002235	eyelid neoplasm	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002236	ocular cancer	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		A benign or malignant neoplasm affecting the structures of the eye.
http://purl.obolibrary.org/obo/MONDO_0002237	carbuncle	http://purl.obolibrary.org/obo/MONDO_0002922	pyoderma		An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.
http://purl.obolibrary.org/obo/MONDO_0002238	ascending colon cancer	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		A malignant neoplasm involving the ascending colon.
http://purl.obolibrary.org/obo/MONDO_0002240	acute perichondritis of pinna	http://purl.obolibrary.org/obo/MONDO_0002246	perichondritis of auricle		Acute form of perichondritis of auricle.
http://purl.obolibrary.org/obo/MONDO_0002241	factor XIII deficiency	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.
http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease	http://purl.obolibrary.org/obo/MONDO_0001531	blood coagulation disease		Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.
http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).
http://purl.obolibrary.org/obo/MONDO_0002244	factor VII deficiency	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.
http://purl.obolibrary.org/obo/MONDO_0002245	blood platelet disease	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		Disorders caused by abnormalities in platelet count or function.
http://purl.obolibrary.org/obo/MONDO_0002246	perichondritis of auricle	http://purl.obolibrary.org/obo/MONDO_0004795	otitis externa		An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.
http://purl.obolibrary.org/obo/MONDO_0002247	factor X deficiency	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.
http://purl.obolibrary.org/obo/MONDO_0002249	thrombocytosis disease	http://purl.obolibrary.org/obo/MONDO_0002245	blood platelet disease		A disease characterized by higher than normal platelet counts in the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0002250	basilar artery insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder		A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.
http://purl.obolibrary.org/obo/MONDO_0002251	hepatitis	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.
http://purl.obolibrary.org/obo/MONDO_0002252	granulomatous hepatitis	http://purl.obolibrary.org/obo/MONDO_0002251	hepatitis		Hepatitis that is characterized by the presence of granulomas.
http://purl.obolibrary.org/obo/MONDO_0002253	spondylosis	http://purl.obolibrary.org/obo/MONDO_0000836	disease of bone structure		A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.
http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.
http://purl.obolibrary.org/obo/MONDO_0002256	cervix disorder	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002257	ankylosis	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Fixation and immobility of a joint.
http://purl.obolibrary.org/obo/MONDO_0002258	pharyngitis	http://purl.obolibrary.org/obo/MONDO_0004867	upper respiratory tract disorder		Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.
http://purl.obolibrary.org/obo/MONDO_0002259	gonadal disorder	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A non-neoplastic or neoplastic disorder that affects the testis or the ovary.
http://purl.obolibrary.org/obo/MONDO_0002260	hidradenitis	http://purl.obolibrary.org/obo/MONDO_0024467	apocrine sweat gland disorder		An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.
http://purl.obolibrary.org/obo/MONDO_0002261	keratopathy	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		Any disorder of the cornea.
http://purl.obolibrary.org/obo/MONDO_0002262	capillary lymphangioma	http://purl.obolibrary.org/obo/MONDO_0024286	benign blood vessel neoplasm		A lymphangioma that involves the capillary.
http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		A disease involving the female reproductive system.
http://purl.obolibrary.org/obo/MONDO_0002265	stereotypic movement disorder	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)
http://purl.obolibrary.org/obo/MONDO_0002266	malt worker's lung	http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease		An extrinsic allergic alveolitis caused by infection with Aspergillus.
http://purl.obolibrary.org/obo/MONDO_0002267	obstructive lung disease	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent.
http://purl.obolibrary.org/obo/MONDO_0002268	dyspepsia	http://purl.obolibrary.org/obo/MONDO_0001318	functional gastric disease		An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease.
http://purl.obolibrary.org/obo/MONDO_0002269	gastroenteritis	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.
http://purl.obolibrary.org/obo/MONDO_0002270	viral gastritis	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Inflammation of the stomach resulting from viral infection.
http://purl.obolibrary.org/obo/MONDO_0002271	colon adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005008	colorectal adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the colon
http://purl.obolibrary.org/obo/MONDO_0002272	polyclonal hypergammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0002273	plasma protein metabolism disease		A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.
http://purl.obolibrary.org/obo/MONDO_0002273	plasma protein metabolism disease	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disorder that involves plasma protein metabolism malfunction.
http://purl.obolibrary.org/obo/MONDO_0002274	monoclonal paraproteinemia disease	http://purl.obolibrary.org/obo/MONDO_0004960	monoclonal gammopathy		A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.
http://purl.obolibrary.org/obo/MONDO_0002275	generalized atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0005311	atherosclerosis		Atherosclerosis that is not localized.
http://purl.obolibrary.org/obo/MONDO_0002277	arteriosclerosis disorder	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		A vascular disorder characterized by thickening and hardening of the walls of the arteries.
http://purl.obolibrary.org/obo/MONDO_0002278	benign colon neoplasm	http://purl.obolibrary.org/obo/MONDO_0021444	benign neoplasm of large intestine		A non-metastasizing neoplasm arising from the wall of the colon.
http://purl.obolibrary.org/obo/MONDO_0002279	iron metabolism disease	http://purl.obolibrary.org/obo/MONDO_0000226	mineral metabolism disease		Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.
http://purl.obolibrary.org/obo/MONDO_0002280	anemia	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.
http://purl.obolibrary.org/obo/MONDO_0002281	macrocytic anemia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		Anemia that is characterized by increased red blood cell volume.
http://purl.obolibrary.org/obo/MONDO_0002282	West Nile fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)
http://purl.obolibrary.org/obo/MONDO_0002283	neuroaxonal dystrophy	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
http://purl.obolibrary.org/obo/MONDO_0002285	pupil disorder	http://purl.obolibrary.org/obo/MONDO_0002289	iris disorder		A disease involving the pupil.
http://purl.obolibrary.org/obo/MONDO_0002286	renal artery disease	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		A disease involving the renal artery.
http://purl.obolibrary.org/obo/MONDO_0002287	glandular cystitis	http://purl.obolibrary.org/obo/MONDO_0006030	chronic cystitis		A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.
http://purl.obolibrary.org/obo/MONDO_0002289	iris disorder	http://purl.obolibrary.org/obo/MONDO_0002661	uveal disorder		A disease involving the iris.
http://purl.obolibrary.org/obo/MONDO_0002290	clitoris cancer	http://purl.obolibrary.org/obo/MONDO_0024877	clitoris neoplasm		A malignant neoplasm that affects the clitoris.
http://purl.obolibrary.org/obo/MONDO_0002291	cutaneous granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0006235	granular cell tumor		A granular cell tumor that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0002293	cutaneous ganglioneuroma	http://purl.obolibrary.org/obo/MONDO_0005033	ganglioneuroma		A ganglioneuroma arising from the skin.
http://purl.obolibrary.org/obo/MONDO_0002295	skin glomus tumor	http://purl.obolibrary.org/obo/MONDO_0018327	glomus tumor		A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.
http://purl.obolibrary.org/obo/MONDO_0002297	epidermal appendage tumor	http://purl.obolibrary.org/obo/MONDO_0024481	skin appendage disorder		A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.
http://purl.obolibrary.org/obo/MONDO_0002298	cutaneous glomangioma	http://purl.obolibrary.org/obo/MONDO_0002299	glomangioma		A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.
http://purl.obolibrary.org/obo/MONDO_0002299	glomangioma	http://purl.obolibrary.org/obo/MONDO_0018327	glomus tumor		A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.
http://purl.obolibrary.org/obo/MONDO_0002300	dermis tumor	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		A benign, intermediate, or malignant neoplasm that arises from the dermis.
http://purl.obolibrary.org/obo/MONDO_0002301	frontal sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044705	paranasal sinus squamous cell carcinoma		A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.
http://purl.obolibrary.org/obo/MONDO_0002303	central retinal vein occlusion	http://purl.obolibrary.org/obo/MONDO_0006951	retinal vein occlusion		Blockage of the central retinal vein.
http://purl.obolibrary.org/obo/MONDO_0002304	protein S deficiency	http://purl.obolibrary.org/obo/MONDO_0002305	thrombophilia		Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.
http://purl.obolibrary.org/obo/MONDO_0002305	thrombophilia	http://purl.obolibrary.org/obo/MONDO_0001531	blood coagulation disease		A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.
http://purl.obolibrary.org/obo/MONDO_0002306	angular blepharoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0002307	blepharoconjunctivitis		A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.
http://purl.obolibrary.org/obo/MONDO_0002307	blepharoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0004785	blepharitis		Inflammation of both the eyelids and the conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0002308	giant papillary conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0002309	papillary conjunctivitis		Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0002309	papillary conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0003799	conjunctivitis		Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0002311	retinal vascular disorder	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		A mycosis that arises from infection in an immunologically compromised host.
http://purl.obolibrary.org/obo/MONDO_0002313	vernal conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0002314	chronic conjunctivitis		Inflammation of the cornea that is seasonal in nature.
http://purl.obolibrary.org/obo/MONDO_0002314	chronic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0003799	conjunctivitis		Conjunctivitis that is persistent and long-standing.
http://purl.obolibrary.org/obo/MONDO_0002316	motor peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		Inflammation or degeneration of the peripheral motor nerves.
http://purl.obolibrary.org/obo/MONDO_0002317	central nervous system origin vertigo	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)
http://purl.obolibrary.org/obo/MONDO_0002318	trachea leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021517	benign neoplasm of trachea		A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0002319	phosphorus metabolism disease	http://purl.obolibrary.org/obo/MONDO_0000226	mineral metabolism disease		A metabolic disorder that affects the phosphate homeostasis.
http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		An abnormality of the nervous system that is present at birth or detected in the neonatal period.
http://purl.obolibrary.org/obo/MONDO_0002321	sensory peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		Inflammation or degeneration of the sensory nerves.
http://purl.obolibrary.org/obo/MONDO_0002322	angiodysplasia	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.
http://purl.obolibrary.org/obo/MONDO_0002323	cherry hemangioma	http://purl.obolibrary.org/obo/MONDO_0003110	skin hemangioma		A capillary hemangioma of the skin, presenting as a red papular lesion.
http://purl.obolibrary.org/obo/MONDO_0002325	tooth erosion, non-bacterial	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)
http://purl.obolibrary.org/obo/MONDO_0002327	intracranial cavernous angioma	http://purl.obolibrary.org/obo/MONDO_0003641	central nervous system hematopoietic neoplasm		A cavernous hemangioma arising from the brain and meninges.
http://purl.obolibrary.org/obo/MONDO_0002328	intracranial hemangioma	http://purl.obolibrary.org/obo/MONDO_0021451	benign neoplasm of brain		A hemangioma arising from the brain and meninges.
http://purl.obolibrary.org/obo/MONDO_0002329	testicular disorder	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.
http://purl.obolibrary.org/obo/MONDO_0002330	alcoholic psychosis	http://purl.obolibrary.org/obo/MONDO_0021698	alcohol-related disorders		A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.
http://purl.obolibrary.org/obo/MONDO_0002331	nephrosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.
http://purl.obolibrary.org/obo/MONDO_0002332	splenic disorder	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		A disease involving the spleen.
http://purl.obolibrary.org/obo/MONDO_0002333	splenic abscess	http://purl.obolibrary.org/obo/MONDO_0005227	abscess		An abscess that is located in the spleen.
http://purl.obolibrary.org/obo/MONDO_0002334	hematopoietic and lymphoid system neoplasm	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003
http://purl.obolibrary.org/obo/MONDO_0002337	intra-abdominal hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma arising from organs within the abdominal cavity.
http://purl.obolibrary.org/obo/MONDO_0002338	extratemporal epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.
http://purl.obolibrary.org/obo/MONDO_0002341	granulomatous angiitis	http://purl.obolibrary.org/obo/MONDO_0043494	arteritis		Inflammation of the arteries that is characterized by the presence of granulomas.
http://purl.obolibrary.org/obo/MONDO_0002342	chondromalacia	http://purl.obolibrary.org/obo/MONDO_0003816	articular cartilage disorder		Pathological processes involving the chondral tissue (cartilage).
http://purl.obolibrary.org/obo/MONDO_0002343	splenic hemangioma	http://purl.obolibrary.org/obo/MONDO_0021500	benign neoplasm of spleen		A hemangioma arising from the spleen.
http://purl.obolibrary.org/obo/MONDO_0002345	cervicitis	http://purl.obolibrary.org/obo/MONDO_0002256	cervix disorder		An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.
http://purl.obolibrary.org/obo/MONDO_0002347	barbiturate dependence	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.
http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0002351	glottis cancer	http://purl.obolibrary.org/obo/MONDO_0002353	glottis neoplasm		A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0002352	larynx cancer	http://purl.obolibrary.org/obo/MONDO_0021071	laryngeal neoplasm		A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.
http://purl.obolibrary.org/obo/MONDO_0002353	glottis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021071	laryngeal neoplasm		A benign or malignant neoplasm that affects the glottic area of the larynx.
http://purl.obolibrary.org/obo/MONDO_0002354	benign laryngeal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021071	laryngeal neoplasm		A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.
http://purl.obolibrary.org/obo/MONDO_0002355	glottis carcinoma	http://purl.obolibrary.org/obo/MONDO_0002358	laryngeal carcinoma		A carcinoma that arises from epithelial cells of the glottis.
http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.
http://purl.obolibrary.org/obo/MONDO_0002357	hepatic flexure cancer	http://purl.obolibrary.org/obo/MONDO_0002238	ascending colon cancer		A malignant neoplasm involving the hepatic flexure of colon.
http://purl.obolibrary.org/obo/MONDO_0002358	laryngeal carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.
http://purl.obolibrary.org/obo/MONDO_0002359	periosteal chondroma	http://purl.obolibrary.org/obo/MONDO_0002360	chondroma		A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.
http://purl.obolibrary.org/obo/MONDO_0002360	chondroma	http://purl.obolibrary.org/obo/MONDO_0024470	benign chondrogenic neoplasm		A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.
http://purl.obolibrary.org/obo/MONDO_0002361	transverse colon cancer	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		A malignant neoplasm involving the transverse colon.
http://purl.obolibrary.org/obo/MONDO_0002362	serous surface papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	papilloma		A non-invasive papillary serous epithelial neoplasm usually arising from the ovary.
http://purl.obolibrary.org/obo/MONDO_0002363	papilloma	http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm		A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma.
http://purl.obolibrary.org/obo/MONDO_0002365	kidney hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm		A hemangiopericytoma arising from the kidney.
http://purl.obolibrary.org/obo/MONDO_0002366	autonomic nervous system neoplasm	http://purl.obolibrary.org/obo/MONDO_0006130	central nervous system neoplasm		Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.
http://purl.obolibrary.org/obo/MONDO_0002367	kidney cancer	http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm		Primary or metastatic malignant neoplasm involving the kidney.
http://purl.obolibrary.org/obo/MONDO_0002368	papillary serous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024621	serous cystadenocarcinoma		A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.
http://purl.obolibrary.org/obo/MONDO_0002369	cystadenoma	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.
http://purl.obolibrary.org/obo/MONDO_0002370	ovarian Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0024235	Brenner tumor		A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature.
http://purl.obolibrary.org/obo/MONDO_0002371	breast pericanalicular fibroadenoma	http://purl.obolibrary.org/obo/MONDO_0002056	breast fibroadenoma		A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.
http://purl.obolibrary.org/obo/MONDO_0002372	ovarian monodermal and highly specialized teratoma	http://purl.obolibrary.org/obo/MONDO_0003331	ovarian monodermal teratoma		A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.
http://purl.obolibrary.org/obo/MONDO_0002373	benign mesothelioma	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.
http://purl.obolibrary.org/obo/MONDO_0002375	sebaceous adenoma	http://purl.obolibrary.org/obo/MONDO_0021634	epithelial skin neoplasm		A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.
http://purl.obolibrary.org/obo/MONDO_0002376	spleen angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A malignant vascular neoplasm arising from the spleen.
http://purl.obolibrary.org/obo/MONDO_0002377	breast intracanalicular fibroadenoma	http://purl.obolibrary.org/obo/MONDO_0002056	breast fibroadenoma		A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.
http://purl.obolibrary.org/obo/MONDO_0002378	dermoid cyst	http://purl.obolibrary.org/obo/MONDO_0002379	cystic teratoma		A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.
http://purl.obolibrary.org/obo/MONDO_0002380	myoepithelial tumor	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002381	sweat gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0006615	sweat gland disorder		A benign or malignant neoplasm arising from the sweat glands.
http://purl.obolibrary.org/obo/MONDO_0002382	benign mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0006854	mesenchymoma		A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.
http://purl.obolibrary.org/obo/MONDO_0002383	Pacinian tumor	http://purl.obolibrary.org/obo/MONDO_0016755	neurofibroma		A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.
http://purl.obolibrary.org/obo/MONDO_0002385	benign cystic nephroma	http://purl.obolibrary.org/obo/MONDO_0002513	kidney benign neoplasm		A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.
http://purl.obolibrary.org/obo/MONDO_0002386	mixed epithelial stromal tumor of the kidney	http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm		A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.
http://purl.obolibrary.org/obo/MONDO_0002387	liver angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A malignant vascular neoplasm arising from the liver.
http://purl.obolibrary.org/obo/MONDO_0002388	intracystic papillary adenoma	http://purl.obolibrary.org/obo/MONDO_0021097	intraductal breast papilloma		A papillary epithelial neoplasm arising in a cystically dilated breast duct.
http://purl.obolibrary.org/obo/MONDO_0002395	renal adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		An adenoma arising from the renal cortex.
http://purl.obolibrary.org/obo/MONDO_0002396	nephrogenic adenofibroma	http://purl.obolibrary.org/obo/MONDO_0021045	fibroepithelial neoplasm		A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.
http://purl.obolibrary.org/obo/MONDO_0002397	liver sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002398	mucinous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0006071	adenofibroma		A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential.
http://purl.obolibrary.org/obo/MONDO_0002399	tenosynovial giant cell tumor, localized type	http://purl.obolibrary.org/obo/MONDO_0024715	benign synovial neoplasm		A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.
http://purl.obolibrary.org/obo/MONDO_0002400	synovitis	http://purl.obolibrary.org/obo/MONDO_0056799	synovium disorder		Inflammation of a synovial membrane.
http://purl.obolibrary.org/obo/MONDO_0002401	malignant tenosynovial giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0002522	tenosynovial giant cell tumor		An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.
http://purl.obolibrary.org/obo/MONDO_0002402	malignant giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		A malignant neoplasm characterized by then presence of atypical giant cells.
http://purl.obolibrary.org/obo/MONDO_0002403	synovium cancer	http://purl.obolibrary.org/obo/MONDO_0002528	synovium neoplasm		A cancer that involves the layer of synovial tissue.
http://purl.obolibrary.org/obo/MONDO_0002404	liver hemangioma	http://purl.obolibrary.org/obo/MONDO_0859689	hepatobiliary benign neoplasm		A hemangioma arising from the liver.
http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.
http://purl.obolibrary.org/obo/MONDO_0002407	capillary hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.
http://purl.obolibrary.org/obo/MONDO_0002408	hereditary hyperbilirubinemia	http://purl.obolibrary.org/obo/MONDO_0024288	hyperbilirubinemia		An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.
http://purl.obolibrary.org/obo/MONDO_0002409	auditory system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the auditory system.
http://purl.obolibrary.org/obo/MONDO_0002411	narcissistic personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.
http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism	http://purl.obolibrary.org/obo/MONDO_0019243	inborn disorder of energy metabolism		An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
http://purl.obolibrary.org/obo/MONDO_0002413	glycogen storage disease I	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
http://purl.obolibrary.org/obo/MONDO_0002414	gastric hemangioma	http://purl.obolibrary.org/obo/MONDO_0021449	benign neoplasm of stomach		A hemangioma arising from the stomach.
http://purl.obolibrary.org/obo/MONDO_0002415	bone carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that involves the bone element.
http://purl.obolibrary.org/obo/MONDO_0002416	ethmoid sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044705	paranasal sinus squamous cell carcinoma		A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.
http://purl.obolibrary.org/obo/MONDO_0002418	ethmoid sinus adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the epithelial cell
http://purl.obolibrary.org/obo/MONDO_0002419	transient tic disorder	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.
http://purl.obolibrary.org/obo/MONDO_0002420	tic disorder	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)
http://purl.obolibrary.org/obo/MONDO_0002422	adamantinoma	http://purl.obolibrary.org/obo/MONDO_0002415	bone carcinoma		A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.
http://purl.obolibrary.org/obo/MONDO_0002423	rectosigmoid junction neoplasm	http://purl.obolibrary.org/obo/MONDO_0006971	sigmoid neoplasm		A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.
http://purl.obolibrary.org/obo/MONDO_0002424	rectosigmoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044937	rectal carcinoma		A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.
http://purl.obolibrary.org/obo/MONDO_0002425	rectosigmoid junction cancer	http://purl.obolibrary.org/obo/MONDO_0006519	rectal cancer		A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0002426	lung sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.
http://purl.obolibrary.org/obo/MONDO_0002427	cerebellar disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.
http://purl.obolibrary.org/obo/MONDO_0002428	protozoa infectious disease	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		An infection that is caused by protozoans.
http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).
http://purl.obolibrary.org/obo/MONDO_0002432	malignant neoplasm of acoustic nerve	http://purl.obolibrary.org/obo/MONDO_0021221	vestibulocochlear nerve neoplasm		A malignant neoplasm involving the vestibulocochlear nerve.
http://purl.obolibrary.org/obo/MONDO_0002433	malignant cranial nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		Abnormal malignant growth of the cells that comprise the cranial nerve.
http://purl.obolibrary.org/obo/MONDO_0002434	oculomotor nerve cancer	http://purl.obolibrary.org/obo/MONDO_0002435	oculomotor nerve neoplasm		A cancer involving a oculomotor nerve.
http://purl.obolibrary.org/obo/MONDO_0002435	oculomotor nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0003546	third cranial nerve disorder		A neoplasm involving a oculomotor nerve.
http://purl.obolibrary.org/obo/MONDO_0002436	nasal disorder	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		A disease involving the nose.
http://purl.obolibrary.org/obo/MONDO_0002437	dehydration polycythemia	http://purl.obolibrary.org/obo/MONDO_0016541	acquired secondary polycythemia		Polycythemia resulting from dehydration.
http://purl.obolibrary.org/obo/MONDO_0002438	acquired polycythemia	http://purl.obolibrary.org/obo/MONDO_0005571	polycythemia		An instance of polycythemia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0002440	erythropoietin polycythemia	http://purl.obolibrary.org/obo/MONDO_0016541	acquired secondary polycythemia		Polycythemia that is caused by excess erythropoietin.
http://purl.obolibrary.org/obo/MONDO_0002441	Jervell and Lange-Nielsen syndrome	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.
http://purl.obolibrary.org/obo/MONDO_0002442	long QT syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.
http://purl.obolibrary.org/obo/MONDO_0002443	bruxism	http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder		Excessive clenching of the jaw and grinding of the teeth.
http://purl.obolibrary.org/obo/MONDO_0002444	melancholia	http://purl.obolibrary.org/obo/MONDO_0002050	depressive disorder		A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.
http://purl.obolibrary.org/obo/MONDO_0002447	endometrial carcinoma	http://purl.obolibrary.org/obo/MONDO_0011962	endometrial cancer		A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.
http://purl.obolibrary.org/obo/MONDO_0002448	laryngeal sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare malignant soft tissue neoplasm that arises from the larynx.
http://purl.obolibrary.org/obo/MONDO_0002450	prostatic adenoma	http://purl.obolibrary.org/obo/MONDO_0021510	benign neoplasm of prostate		Focal benign glandular hyperplasia in the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0002451	benign prostate phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0037002	benign phyllodes tumor		A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.
http://purl.obolibrary.org/obo/MONDO_0002452	prostate leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021510	benign neoplasm of prostate		A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0002453	retrocochlear disease	http://purl.obolibrary.org/obo/MONDO_0002409	auditory system disorder		Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.
http://purl.obolibrary.org/obo/MONDO_0002455	exocervical carcinoma	http://purl.obolibrary.org/obo/MONDO_0005131	cervical carcinoma		A carcinoma that arises from the squamous epithelium of the exocervix.
http://purl.obolibrary.org/obo/MONDO_0002457	Treacher-Collins syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.
http://purl.obolibrary.org/obo/MONDO_0002459	type IV hypersensitivity disease	http://purl.obolibrary.org/obo/MONDO_0000605	hypersensitivity reaction disease		A disease that has its basis in the disruption of type IV hypersensitivity.
http://purl.obolibrary.org/obo/MONDO_0002460	lacrimal system cancer	http://purl.obolibrary.org/obo/MONDO_0002236	ocular cancer		A cancer that involves the lacrimal apparatus.
http://purl.obolibrary.org/obo/MONDO_0002461	membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli.
http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0019722	glomerular disorder		A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.
http://purl.obolibrary.org/obo/MONDO_0002463	lacrimal gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0002466	eye carcinoma		A carcinoma that arises from epithelial cells of the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0002464	lacrimal gland cancer	http://purl.obolibrary.org/obo/MONDO_0021222	lacrimal gland neoplasm		A malignant neoplasm involving the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0002465	bronchiolitis	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.
http://purl.obolibrary.org/obo/MONDO_0002466	eye carcinoma	http://purl.obolibrary.org/obo/MONDO_0002236	ocular cancer		A carcinoma that arises from epithelial cells of the eye
http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder	http://purl.obolibrary.org/obo/MONDO_0021205	disorder of ear		A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.
http://purl.obolibrary.org/obo/MONDO_0002469	lacrimal gland carcinoma ex pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0002472	carcinoma ex pleomorphic adenoma		A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0002470	photosensitive trichothiodystrophy	http://purl.obolibrary.org/obo/MONDO_0043459	radiation-induced disorder		A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway
http://purl.obolibrary.org/obo/MONDO_0002471	bursitis	http://purl.obolibrary.org/obo/MONDO_0056802	synovial bursa disorder		Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.
http://purl.obolibrary.org/obo/MONDO_0002472	carcinoma ex pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.
http://purl.obolibrary.org/obo/MONDO_0002473	cystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A congenital or acquired kidney disorder characterized by the presence of renal cysts.
http://purl.obolibrary.org/obo/MONDO_0002474	primary hyperoxaluria	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.
http://purl.obolibrary.org/obo/MONDO_0002475	lacrimal gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the lacrimal gland
http://purl.obolibrary.org/obo/MONDO_0002476	anuria	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Absence of urine output.
http://purl.obolibrary.org/obo/MONDO_0002477	prostate neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021259	prostate neoplasm		A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0002478	mixed germ cell-sex cord-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.
http://purl.obolibrary.org/obo/MONDO_0002479	Sertoli-Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0003125	testicular sex cord-stromal neoplasm		A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.
http://purl.obolibrary.org/obo/MONDO_0002480	endometrioid tumor	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.
http://purl.obolibrary.org/obo/MONDO_0002481	ovarian neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002482	nipple neoplasm	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		A benign or malignant neoplasm that arises in the area of the nipple.
http://purl.obolibrary.org/obo/MONDO_0002483	breast myoepithelial tumor	http://purl.obolibrary.org/obo/MONDO_0002380	myoepithelial tumor		A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma.
http://purl.obolibrary.org/obo/MONDO_0002485	breast neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0019496	neuroendocrine neoplasm		A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare.
http://purl.obolibrary.org/obo/MONDO_0002486	lobular neoplasia	http://purl.obolibrary.org/obo/MONDO_0004658	breast carcinoma in situ		A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002487	breast granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0006235	granular cell tumor		A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0002488	intraductal breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0021100	breast neoplasm		A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.
http://purl.obolibrary.org/obo/MONDO_0002489	malignant breast phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0037003	malignant phyllodes tumor		A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.
http://purl.obolibrary.org/obo/MONDO_0002490	breast sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002491	substance abuse	http://purl.obolibrary.org/obo/MONDO_0002494	substance-related disorder		The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.
http://purl.obolibrary.org/obo/MONDO_0002492	acute kidney injury	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria.
http://purl.obolibrary.org/obo/MONDO_0002493	prostatic acinar adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005082	prostate adenocarcinoma		An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants.
http://purl.obolibrary.org/obo/MONDO_0002494	substance-related disorder	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).
http://purl.obolibrary.org/obo/MONDO_0002495	colon signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0044336	colorectal signet ring cell carcinoma		An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.
http://purl.obolibrary.org/obo/MONDO_0002496	submucosal invasive colon adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0040677	invasive carcinoma		An adenocarcinoma of the colon that has invaded into the submucosa.
http://purl.obolibrary.org/obo/MONDO_0002501	brain glioblastoma	http://purl.obolibrary.org/obo/MONDO_0018177	glioblastoma		A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0002503	adult astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0021636	astrocytic tumor		An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.
http://purl.obolibrary.org/obo/MONDO_0002505	childhood astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.
http://purl.obolibrary.org/obo/MONDO_0002507	gingival overgrowth	http://purl.obolibrary.org/obo/MONDO_0002021	gingival disorder		Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)
http://purl.obolibrary.org/obo/MONDO_0002508	gingivitis	http://purl.obolibrary.org/obo/MONDO_0004842	stomatitis		A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth.
http://purl.obolibrary.org/obo/MONDO_0002509	non-specific granulomatous orchitis	http://purl.obolibrary.org/obo/MONDO_0006882	orchitis		Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.
http://purl.obolibrary.org/obo/MONDO_0002512	papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006509	papillary carcinoma		A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002513	kidney benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm		A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0002514	hepatobiliary neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002515	hepatobiliary disorder	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002516	digestive system cancer	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A primary or metastatic malignant neoplasm involving any part of the digestive system.
http://purl.obolibrary.org/obo/MONDO_0002518	gallbladder papillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0021253	gallbladder neoplasm		A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.
http://purl.obolibrary.org/obo/MONDO_0002519	anus disorder	http://purl.obolibrary.org/obo/MONDO_0001593	rectal disorder		A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.
http://purl.obolibrary.org/obo/MONDO_0002520	hepatic porphyria	http://purl.obolibrary.org/obo/MONDO_0037939	porphyria		A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
http://purl.obolibrary.org/obo/MONDO_0002522	tenosynovial giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0024876	tendon sheath disorder		A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.
http://purl.obolibrary.org/obo/MONDO_0002523	cutaneous mucinosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).
http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.
http://purl.obolibrary.org/obo/MONDO_0002527	keratoacanthoma	http://purl.obolibrary.org/obo/MONDO_0021634	epithelial skin neoplasm		A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin.
http://purl.obolibrary.org/obo/MONDO_0002528	synovium neoplasm	http://purl.obolibrary.org/obo/MONDO_0056799	synovium disorder		A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.
http://purl.obolibrary.org/obo/MONDO_0002529	skin squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.
http://purl.obolibrary.org/obo/MONDO_0002531	skin neoplasm	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.
http://purl.obolibrary.org/obo/MONDO_0002532	squamous cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.
http://purl.obolibrary.org/obo/MONDO_0002533	papillary adenoma	http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm		An adenoma characterized by the presence of papillary epithelial patterns.
http://purl.obolibrary.org/obo/MONDO_0002534	fallopian tube papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	papilloma		A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0002535	verrucous papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	papilloma		A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.
http://purl.obolibrary.org/obo/MONDO_0002536	skin papilloma	http://purl.obolibrary.org/obo/MONDO_0024666	benign epithelial skin neoplasm		A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin.
http://purl.obolibrary.org/obo/MONDO_0002537	inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	papilloma		An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses.
http://purl.obolibrary.org/obo/MONDO_0002540	childhood oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0016695	oligodendroglioma		An oligodendroglioma that arises from the central nervous system and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0002541	spinal cord oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0016695	oligodendroglioma		A oligodendroglioma that involves the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0002542	spinal cord glioma	http://purl.obolibrary.org/obo/MONDO_0100342	malignant glioma		A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.
http://purl.obolibrary.org/obo/MONDO_0002543	adult oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0016695	oligodendroglioma		An oligodendroglioma occurring during adulthood.
http://purl.obolibrary.org/obo/MONDO_0002544	brain oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0016695	oligodendroglioma		A oligodendroglioma that involves the brain.
http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		A disease involving the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma	http://purl.obolibrary.org/obo/MONDO_0021637	low grade glioma		A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.
http://purl.obolibrary.org/obo/HP_0040326	Hypoplasia of the olfactory bulb	http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system		
http://purl.obolibrary.org/obo/MONDO_0044626	female infertility due to oocyte meiotic arrest	http://purl.obolibrary.org/obo/MONDO_0021124	female infertility		
http://purl.obolibrary.org/obo/MONDO_0001753	female infertility of uterine origin	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0001618	balanoposthitis	http://purl.obolibrary.org/obo/MONDO_0006672	balanitis		
http://purl.obolibrary.org/obo/MONDO_0021157	gonococcal cervicitis	http://purl.obolibrary.org/obo/MONDO_0004277	gonorrhea		
http://purl.obolibrary.org/obo/MONDO_0100537	plasminogen deficiency, type II	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		
http://purl.obolibrary.org/obo/MONDO_0100538	dysplasminogenemia	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		
http://purl.obolibrary.org/obo/MONDO_0017427	congenital deformities of limbs	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0020297	Noonan syndrome and Noonan-related syndrome	http://purl.obolibrary.org/obo/MONDO_0021060	RASopathy		
http://purl.obolibrary.org/obo/MONDO_0019829	congenital anomaly of superior vena cava	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0019836	congenital anomaly of hepatic vein	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0019849	isolated micropenis	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0020446	coronary sinus stenosis	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0020447	coronary sinus atresia	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0044644	congenital agenesis of the scrotum	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0024262	massive neonatal aspiration syndrome	http://purl.obolibrary.org/obo/MONDO_0024263	neonatal aspiration syndrome		
http://purl.obolibrary.org/obo/GO_0120255	olefinic compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/ENVO_06105304	water-holding capacity of soil	http://purl.obolibrary.org/obo/ENVO_01003001	water-holding capacity		
http://purl.obolibrary.org/obo/MONDO_0008373	retinal arterial tortuosity	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		
http://purl.obolibrary.org/obo/MONDO_0008176	Paget disease of bone 3	http://purl.obolibrary.org/obo/MONDO_0005382	bone Paget disease		
http://purl.obolibrary.org/obo/PATO_0000070	amount	http://purl.obolibrary.org/obo/PATO_0103000	quantitative		
http://purl.obolibrary.org/obo/HP_6001426	Elbow instability	http://purl.obolibrary.org/obo/HP_0020301	Abnormal elbow physiology		
http://purl.obolibrary.org/obo/MONDO_0001904	polyneuropathy due to drug	http://purl.obolibrary.org/obo/MONDO_0100633	toxic polyneuropathy		
http://purl.obolibrary.org/obo/MONDO_0060489	46,XX sex reversal 4	http://purl.obolibrary.org/obo/MONDO_0100249	46,XX testicular disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0044648	kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/CHEBI_26373	pteridines	http://purl.obolibrary.org/obo/CHEBI_33833	heteroarene		
http://purl.obolibrary.org/obo/CHEBI_38295	azabicycloalkane	http://purl.obolibrary.org/obo/CHEBI_38101	organonitrogen heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_38106	organosulfur heterocyclic compound	http://purl.obolibrary.org/obo/CHEBI_24532	organic heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_35350	hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		
http://purl.obolibrary.org/obo/CHEBI_35789	oxo steroid	http://purl.obolibrary.org/obo/CHEBI_17087	ketone		
http://purl.obolibrary.org/obo/CHEBI_35788	seco-steroid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		
http://purl.obolibrary.org/obo/CHEBI_35508	steroid fundamental parent	http://purl.obolibrary.org/obo/CHEBI_35507	natural product fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_25558	organonitrogen heterocyclic antibiotic	http://purl.obolibrary.org/obo/CHEBI_24531	heterocyclic antibiotic		
http://purl.obolibrary.org/obo/CHEBI_33670	heteromonocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33661	monocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_26375	pterins	http://purl.obolibrary.org/obo/CHEBI_26373	pteridines		
http://purl.obolibrary.org/obo/CHEBI_50681	methotrexate(2-)	http://purl.obolibrary.org/obo/CHEBI_28965	dicarboxylic acid dianion		
http://purl.obolibrary.org/obo/CHEBI_37332	tropane alkaloid	http://purl.obolibrary.org/obo/CHEBI_22315	alkaloid		
http://purl.obolibrary.org/obo/CHEBI_32879	propane	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		
http://purl.obolibrary.org/obo/CHEBI_23423	pseudohalogen oxoacid	http://purl.obolibrary.org/obo/CHEBI_24833	oxoacid		
http://purl.obolibrary.org/obo/CHEBI_33892	iron coordination entity	http://purl.obolibrary.org/obo/CHEBI_33861	transition element coordination entity		
http://purl.obolibrary.org/obo/CHEBI_50816	iron oxide	http://purl.obolibrary.org/obo/CHEBI_24873	iron molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35219	plant growth retardant	http://purl.obolibrary.org/obo/CHEBI_26155	plant growth regulator		
http://purl.obolibrary.org/obo/CHEBI_33721	carbohydrate acid anion	http://purl.obolibrary.org/obo/CHEBI_29067	carboxylic acid anion		
http://purl.obolibrary.org/obo/CHEBI_35693	dicarboxylic acid anion	http://purl.obolibrary.org/obo/CHEBI_29067	carboxylic acid anion		
http://purl.obolibrary.org/obo/CHEBI_24734	hydroxyphenylalanine	http://purl.obolibrary.org/obo/CHEBI_25985	phenylalanine derivative		
http://purl.obolibrary.org/obo/CHEBI_24163	galactoside	http://purl.obolibrary.org/obo/CHEBI_35313	hexoside		
http://purl.obolibrary.org/obo/CHEBI_49302	2-hydroxy monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_35868	hydroxy monocarboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_27171	organic heterobicyclic compound	http://purl.obolibrary.org/obo/CHEBI_33672	heterobicyclic compound		
http://purl.obolibrary.org/obo/CHEBI_22984	calcium atom	http://purl.obolibrary.org/obo/CHEBI_22313	alkaline earth metal atom		
http://purl.obolibrary.org/obo/CHEBI_25107	magnesium atom	http://purl.obolibrary.org/obo/CHEBI_22313	alkaline earth metal atom		
http://purl.obolibrary.org/obo/CHEBI_26216	potassium atom	http://purl.obolibrary.org/obo/CHEBI_22314	alkali metal atom		
http://purl.obolibrary.org/obo/CHEBI_26708	sodium atom	http://purl.obolibrary.org/obo/CHEBI_22314	alkali metal atom		
http://purl.obolibrary.org/obo/CHEBI_30356	isobutyl group	http://purl.obolibrary.org/obo/CHEBI_50325	proteinogenic amino-acid side-chain group		
http://purl.obolibrary.org/obo/CHEBI_23905	monoatomic anion	http://purl.obolibrary.org/obo/CHEBI_24867	monoatomic ion		
http://purl.obolibrary.org/obo/CHEBI_24834	inorganic anion	http://purl.obolibrary.org/obo/CHEBI_36914	inorganic ion		
http://purl.obolibrary.org/obo/CHEBI_28024	cyanic acid	http://purl.obolibrary.org/obo/CHEBI_64708	one-carbon compound		
http://purl.obolibrary.org/obo/CHEBI_25213	metal cation	http://purl.obolibrary.org/obo/CHEBI_36915	inorganic cation		
http://purl.obolibrary.org/obo/CHEBI_33280	molecular messenger	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		
http://purl.obolibrary.org/obo/CHEBI_52208	biophysical role	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		
http://purl.obolibrary.org/obo/CHEBI_23116	chlorine atom	http://purl.obolibrary.org/obo/CHEBI_24473	halogen		
http://purl.obolibrary.org/obo/CHEBI_38166	organic heteropolycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33671	heteropolycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_24531	heterocyclic antibiotic	http://purl.obolibrary.org/obo/CHEBI_24532	organic heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33670	heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_24839	inorganic salt	http://purl.obolibrary.org/obo/CHEBI_24866	salt		
http://purl.obolibrary.org/obo/CHEBI_36914	inorganic ion	http://purl.obolibrary.org/obo/CHEBI_24870	ion		
http://purl.obolibrary.org/obo/CHEBI_49637	hydrogen atom	http://purl.obolibrary.org/obo/CHEBI_33559	s-block element atom		
http://purl.obolibrary.org/obo/CHEBI_38702	inorganic sodium salt	http://purl.obolibrary.org/obo/CHEBI_26714	sodium salt		
http://purl.obolibrary.org/obo/CHEBI_33958	halide salt	http://purl.obolibrary.org/obo/CHEBI_37578	halide		
http://purl.obolibrary.org/obo/CHEBI_23906	monoatomic cation	http://purl.obolibrary.org/obo/CHEBI_36916	cation		
http://purl.obolibrary.org/obo/CHEBI_24867	monoatomic ion	http://purl.obolibrary.org/obo/CHEBI_33238	monoatomic entity		
http://purl.obolibrary.org/obo/CHEBI_25699	organic ion	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33515	transition element cation	http://purl.obolibrary.org/obo/CHEBI_25213	metal cation		
http://purl.obolibrary.org/obo/CHEBI_24473	halogen	http://purl.obolibrary.org/obo/CHEBI_33560	p-block element atom		
http://purl.obolibrary.org/obo/CHEBI_25555	nitrogen atom	http://purl.obolibrary.org/obo/CHEBI_33300	pnictogen		
http://purl.obolibrary.org/obo/CHEBI_25805	oxygen atom	http://purl.obolibrary.org/obo/CHEBI_33303	chalcogen		
http://purl.obolibrary.org/obo/CHEBI_27573	silicon atom	http://purl.obolibrary.org/obo/CHEBI_137980	metalloid atom		
http://purl.obolibrary.org/obo/CHEBI_27594	carbon atom	http://purl.obolibrary.org/obo/CHEBI_33306	carbon group element atom		
http://purl.obolibrary.org/obo/CHEBI_28659	phosphorus atom	http://purl.obolibrary.org/obo/CHEBI_33300	pnictogen		
http://purl.obolibrary.org/obo/CHEBI_36360	phosphorus oxoacids and derivatives	http://purl.obolibrary.org/obo/CHEBI_26082	phosphorus molecular entity		
http://purl.obolibrary.org/obo/CHEBI_25216	metalloporphyrin	http://purl.obolibrary.org/obo/CHEBI_33909	metallotetrapyrrole		
http://purl.obolibrary.org/obo/CHEBI_25046	linear tetrapyrrole	http://purl.obolibrary.org/obo/CHEBI_26932	tetrapyrrole		
http://purl.obolibrary.org/obo/CHEBI_36309	cyclic tetrapyrrole	http://purl.obolibrary.org/obo/CHEBI_47882	cyclic polypyrrole		
http://purl.obolibrary.org/obo/CHEBI_23443	cyclic amide	http://purl.obolibrary.org/obo/CHEBI_32988	amide		
http://purl.obolibrary.org/obo/CHEBI_25585	nonmetal atom	http://purl.obolibrary.org/obo/CHEBI_33250	atom		
http://purl.obolibrary.org/obo/CHEBI_33559	s-block element atom	http://purl.obolibrary.org/obo/CHEBI_33250	atom		
http://purl.obolibrary.org/obo/CHEBI_26217	potassium molecular entity	http://purl.obolibrary.org/obo/CHEBI_33296	alkali metal molecular entity		
http://purl.obolibrary.org/obo/CHEBI_26712	sodium molecular entity	http://purl.obolibrary.org/obo/CHEBI_33296	alkali metal molecular entity		
http://purl.obolibrary.org/obo/CHEBI_37133	barium molecular entity	http://purl.obolibrary.org/obo/CHEBI_33299	alkaline earth molecular entity		
http://purl.obolibrary.org/obo/CHEBI_26082	phosphorus molecular entity	http://purl.obolibrary.org/obo/CHEBI_33302	pnictogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33302	pnictogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_25806	oxygen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_22313	alkaline earth metal atom	http://purl.obolibrary.org/obo/CHEBI_33559	s-block element atom		
http://purl.obolibrary.org/obo/CHEBI_22314	alkali metal atom	http://purl.obolibrary.org/obo/CHEBI_33559	s-block element atom		
http://purl.obolibrary.org/obo/CHEBI_22977	cadmium atom	http://purl.obolibrary.org/obo/CHEBI_33340	zinc group element atom		
http://purl.obolibrary.org/obo/CHEBI_25195	mercury atom	http://purl.obolibrary.org/obo/CHEBI_33340	zinc group element atom		
http://purl.obolibrary.org/obo/CHEBI_22744	benzyl group	http://purl.obolibrary.org/obo/CHEBI_50325	proteinogenic amino-acid side-chain group		
http://purl.obolibrary.org/obo/CHEBI_24875	iron cation	http://purl.obolibrary.org/obo/CHEBI_82663	elemental iron		
http://purl.obolibrary.org/obo/CHEBI_33306	carbon group element atom	http://purl.obolibrary.org/obo/CHEBI_33560	p-block element atom		
http://purl.obolibrary.org/obo/CHEBI_26677	silicon molecular entity	http://purl.obolibrary.org/obo/CHEBI_33582	carbon group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_22978	cadmium molecular entity	http://purl.obolibrary.org/obo/CHEBI_33673	zinc group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_25196	mercury molecular entity	http://purl.obolibrary.org/obo/CHEBI_33673	zinc group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_24471	halogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33582	carbon group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33675	p-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_25154	manganese molecular entity	http://purl.obolibrary.org/obo/CHEBI_33743	manganese group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_24873	iron molecular entity	http://purl.obolibrary.org/obo/CHEBI_33744	iron group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_23390	cobalt-corrinoid hexaamide	http://purl.obolibrary.org/obo/CHEBI_33906	cobalt corrinoid		
http://purl.obolibrary.org/obo/CHEBI_33906	cobalt corrinoid	http://purl.obolibrary.org/obo/CHEBI_33890	cobalt coordination entity		
http://purl.obolibrary.org/obo/CHEBI_35516	cholestane	http://purl.obolibrary.org/obo/CHEBI_35508	steroid fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_35519	cholane	http://purl.obolibrary.org/obo/CHEBI_35508	steroid fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_8386	pregnane	http://purl.obolibrary.org/obo/CHEBI_35508	steroid fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_33909	metallotetrapyrrole	http://purl.obolibrary.org/obo/CHEBI_36309	cyclic tetrapyrrole		
http://purl.obolibrary.org/obo/CHEBI_36359	phosphorus oxoacid derivative	http://purl.obolibrary.org/obo/CHEBI_33241	oxoacid derivative		
http://purl.obolibrary.org/obo/CHEBI_36915	inorganic cation	http://purl.obolibrary.org/obo/CHEBI_36916	cation		
http://purl.obolibrary.org/obo/CHEBI_50312	onium compound	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_38497	respiratory-chain inhibitor	http://purl.obolibrary.org/obo/CHEBI_38496	electron-transport chain inhibitor		
http://purl.obolibrary.org/obo/CHEBI_39000	sodium channel modulator	http://purl.obolibrary.org/obo/CHEBI_38632	membrane transport modulator		
http://purl.obolibrary.org/obo/CHEBI_23019	carbonyl group	http://purl.obolibrary.org/obo/CHEBI_51422	organodiyl group		
http://purl.obolibrary.org/obo/CHEBI_37327	isoalloxazine	http://purl.obolibrary.org/obo/CHEBI_37326	benzo[g]pteridine-2,4-dione		
http://purl.obolibrary.org/obo/CHEBI_38496	electron-transport chain inhibitor	http://purl.obolibrary.org/obo/CHEBI_76932	pathway inhibitor		
http://purl.obolibrary.org/obo/CHEBI_50819	ferric oxide	http://purl.obolibrary.org/obo/CHEBI_50816	iron oxide		
http://purl.obolibrary.org/obo/CHEBI_50818	hematite	http://purl.obolibrary.org/obo/CHEBI_50817	iron oxide mineral		
http://purl.obolibrary.org/obo/HP_0040298	Hyperplasia of the endometrium	http://purl.obolibrary.org/obo/HP_0030126	Abnormal endometrium morphology		
http://purl.obolibrary.org/obo/HP_0040049	Macular edema	http://purl.obolibrary.org/obo/HP_0031527	Retinal edema		
http://purl.obolibrary.org/obo/NCBITaxon_9639	Ursus	http://purl.obolibrary.org/obo/NCBITaxon_9632	Ursidae		
http://purl.obolibrary.org/obo/UBERON_0035006	preputial swelling of female	http://purl.obolibrary.org/obo/UBERON_0035004	preputial swelling		
http://purl.obolibrary.org/obo/UBERON_0035110	lateral plantar nerve	http://purl.obolibrary.org/obo/UBERON_0035109	plantar nerve		
http://purl.obolibrary.org/obo/UBERON_0035111	medial plantar nerve	http://purl.obolibrary.org/obo/UBERON_0035109	plantar nerve		
http://purl.obolibrary.org/obo/NCBITaxon_10140	Cavia	http://purl.obolibrary.org/obo/NCBITaxon_10139	Caviidae		
http://purl.obolibrary.org/obo/NCBITaxon_10151	Chinchilla	http://purl.obolibrary.org/obo/NCBITaxon_10150	Chinchillidae		
http://purl.obolibrary.org/obo/NCBITaxon_10159	Octodon	http://purl.obolibrary.org/obo/NCBITaxon_10158	Octodontidae		
http://purl.obolibrary.org/obo/NCBITaxon_10160	Octodon degus	http://purl.obolibrary.org/obo/NCBITaxon_10159	Octodon		
http://purl.obolibrary.org/obo/NCBITaxon_1717	Corynebacterium diphtheriae	http://purl.obolibrary.org/obo/NCBITaxon_1716	Corynebacterium		
http://purl.obolibrary.org/obo/NCBITaxon_210	Helicobacter pylori	http://purl.obolibrary.org/obo/NCBITaxon_209	Helicobacter		
http://purl.obolibrary.org/obo/NCBITaxon_10139	Caviidae	http://purl.obolibrary.org/obo/NCBITaxon_33550	Hystricomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_10150	Chinchillidae	http://purl.obolibrary.org/obo/NCBITaxon_33550	Hystricomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_10158	Octodontidae	http://purl.obolibrary.org/obo/NCBITaxon_33550	Hystricomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_34503	Paragonimus	http://purl.obolibrary.org/obo/NCBITaxon_34502	Troglotrematidae		
http://purl.obolibrary.org/obo/NCBITaxon_499202	Lichtheimiaceae	http://purl.obolibrary.org/obo/NCBITaxon_4827	Mucorales		
http://purl.obolibrary.org/obo/NCBITaxon_644	Aeromonas hydrophila	http://purl.obolibrary.org/obo/NCBITaxon_642	Aeromonas		
http://purl.obolibrary.org/obo/NCBITaxon_672	Vibrio vulnificus	http://purl.obolibrary.org/obo/NCBITaxon_662	Vibrio		
http://purl.obolibrary.org/obo/NCBITaxon_292	Burkholderia cepacia	http://purl.obolibrary.org/obo/NCBITaxon_87882	Burkholderia cepacia complex		
http://purl.obolibrary.org/obo/NCBITaxon_77225	Pteropodinae	http://purl.obolibrary.org/obo/NCBITaxon_9398	Pteropodidae		
http://purl.obolibrary.org/obo/NCBITaxon_9946	Tragelaphus strepsiceros	http://purl.obolibrary.org/obo/NCBITaxon_9944	Tragelaphus		
http://purl.obolibrary.org/obo/NCBITaxon_51027	Enterobius	http://purl.obolibrary.org/obo/NCBITaxon_51026	Oxyuridae		
http://purl.obolibrary.org/obo/NCBITaxon_6281	Onchocerca	http://purl.obolibrary.org/obo/NCBITaxon_6296	Onchocercidae		
http://purl.obolibrary.org/obo/NCBITaxon_6286	Dirofilaria	http://purl.obolibrary.org/obo/NCBITaxon_6296	Onchocercidae		
http://purl.obolibrary.org/obo/NCBITaxon_662	Vibrio	http://purl.obolibrary.org/obo/NCBITaxon_641	Vibrionaceae		
http://purl.obolibrary.org/obo/NCBITaxon_27841	Echinostomata	http://purl.obolibrary.org/obo/NCBITaxon_27871	Plagiorchiida		
http://purl.obolibrary.org/obo/NCBITaxon_116926	Philophthalmidae	http://purl.obolibrary.org/obo/NCBITaxon_404429	Echinostomatoidea		
http://purl.obolibrary.org/obo/NCBITaxon_236781	Tineinae	http://purl.obolibrary.org/obo/NCBITaxon_41012	Tineidae		
http://purl.obolibrary.org/obo/NCBITaxon_1399768	Basidiobolomycetes	http://purl.obolibrary.org/obo/NCBITaxon_1264859	Entomophthoromycotina		
http://purl.obolibrary.org/obo/NCBITaxon_1399770	Entomophthoromycetes	http://purl.obolibrary.org/obo/NCBITaxon_1264859	Entomophthoromycotina		
http://purl.obolibrary.org/obo/NCBITaxon_1264872	Basidiobolales	http://purl.obolibrary.org/obo/NCBITaxon_1399768	Basidiobolomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_1870884	Clostridioides	http://purl.obolibrary.org/obo/NCBITaxon_186804	Peptostreptococcaceae		
http://purl.obolibrary.org/obo/NCBITaxon_469	Acinetobacter	http://purl.obolibrary.org/obo/NCBITaxon_468	Moraxellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_140713	Tunga	http://purl.obolibrary.org/obo/NCBITaxon_1658400	Hectopsyllidae		
http://purl.obolibrary.org/obo/NCBITaxon_1489911	Cichliformes	http://purl.obolibrary.org/obo/NCBITaxon_1489910	Cichlomorphae		
http://purl.obolibrary.org/obo/NCBITaxon_1496	Clostridioides difficile	http://purl.obolibrary.org/obo/NCBITaxon_1870884	Clostridioides		
http://purl.obolibrary.org/obo/NCBITaxon_149546	Histoplasma capsulatum var. duboisii	http://purl.obolibrary.org/obo/NCBITaxon_5037	Histoplasma capsulatum		
http://purl.obolibrary.org/obo/NCBITaxon_2572478	Oesophagostominae	http://purl.obolibrary.org/obo/NCBITaxon_52651	Chabertiidae		
http://purl.obolibrary.org/obo/NCBITaxon_1489739	Characoidei	http://purl.obolibrary.org/obo/NCBITaxon_7991	Characiformes		
http://purl.obolibrary.org/obo/NCBITaxon_1490020	Gasterosteales	http://purl.obolibrary.org/obo/NCBITaxon_8100	Cottioidei		
http://purl.obolibrary.org/obo/NCBITaxon_4564	Triticum	http://purl.obolibrary.org/obo/NCBITaxon_1648030	Triticinae		
http://purl.obolibrary.org/obo/NCBITaxon_163343	Trichostomatia	http://purl.obolibrary.org/obo/NCBITaxon_5988	Litostomatea		
http://purl.obolibrary.org/obo/NCBITaxon_41012	Tineidae	http://purl.obolibrary.org/obo/NCBITaxon_41011	Tineoidea		
http://purl.obolibrary.org/obo/NCBITaxon_27717	Tinca tinca	http://purl.obolibrary.org/obo/NCBITaxon_27716	Tinca		
http://purl.obolibrary.org/obo/NCBITaxon_404429	Echinostomatoidea	http://purl.obolibrary.org/obo/NCBITaxon_27841	Echinostomata		
http://purl.obolibrary.org/obo/NCBITaxon_45443	Aplocheiloidei	http://purl.obolibrary.org/obo/NCBITaxon_28738	Cyprinodontiformes		
http://purl.obolibrary.org/obo/NCBITaxon_27871	Plagiorchiida	http://purl.obolibrary.org/obo/NCBITaxon_6179	Digenea <flatworms>		
http://purl.obolibrary.org/obo/NCBITaxon_6193	Opisthorchiida	http://purl.obolibrary.org/obo/NCBITaxon_6179	Digenea <flatworms>		
http://purl.obolibrary.org/obo/NCBITaxon_6194	Opisthorchiata	http://purl.obolibrary.org/obo/NCBITaxon_6193	Opisthorchiida		
http://purl.obolibrary.org/obo/NCBITaxon_9653	Procyon	http://purl.obolibrary.org/obo/NCBITaxon_9647	Procyonidae		
http://purl.obolibrary.org/obo/NCBITaxon_47570	Schizotrypanum	http://purl.obolibrary.org/obo/NCBITaxon_5690	Trypanosoma		
http://purl.obolibrary.org/obo/NCBITaxon_39700	Trypanozoon	http://purl.obolibrary.org/obo/NCBITaxon_5690	Trypanosoma		
http://purl.obolibrary.org/obo/NCBITaxon_53467	Mesocestoides	http://purl.obolibrary.org/obo/NCBITaxon_53466	Mesocestoididae		
http://purl.obolibrary.org/obo/MONDO_0021571	multiple sclerosis, susceptibility to 1	http://purl.obolibrary.org/obo/MONDO_0007462	multiple sclerosis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0020521	Ehlers-Danlos syndrome type 7A	http://purl.obolibrary.org/obo/MONDO_0007525	Ehlers-Danlos syndrome, arthrochalasia type		
http://purl.obolibrary.org/obo/MONDO_0040501	Ehlers-Danlos syndrome, arthrochalasia type, 2	http://purl.obolibrary.org/obo/MONDO_0100606	COL1A2-related Ehlers-Danlos syndrome		
http://purl.obolibrary.org/obo/MONDO_0021035	alopecia-intellectual disability syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008756	alopecia - intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0007503	ear without helix	http://purl.obolibrary.org/obo/MONDO_0010920	microtia		
http://purl.obolibrary.org/obo/MONDO_0000050	isolated congenital growth hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0013099	combined pituitary hormone deficiencies, genetic form		
http://purl.obolibrary.org/obo/MONDO_0007771	hyperpigmentation with or without hypopigmentation, familial progressive	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0007429	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	http://purl.obolibrary.org/obo/MONDO_0014720	autosomal dominant optic atrophy plus syndrome		
http://purl.obolibrary.org/obo/MONDO_0007767	hyperparathyroidism 1	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0008439	spastic paraplegia-epilepsy-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0957788	spastic paraplegia 18a, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012639	hereditary spastic paraplegia 18		
http://purl.obolibrary.org/obo/MONDO_0015079	multiple polyglandular tumor	http://purl.obolibrary.org/obo/MONDO_0015126	polyendocrinopathy		
http://purl.obolibrary.org/obo/MONDO_0044682	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		
http://purl.obolibrary.org/obo/MONDO_0020414	persistent fifth aortic arch	http://purl.obolibrary.org/obo/MONDO_0015236	aortic arch defects		
http://purl.obolibrary.org/obo/MONDO_0020418	dysphagia lusoria	http://purl.obolibrary.org/obo/MONDO_0015236	aortic arch defects		
http://purl.obolibrary.org/obo/MONDO_0015704	familial scaphocephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0060585	neuronopathy, distal hereditary motor, type 9	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0957875	neuronopathy, distal hereditary motor, autosomal dominant 11	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0007927	congenital macroglossia	http://purl.obolibrary.org/obo/MONDO_0015496	macroglossia		
http://purl.obolibrary.org/obo/MONDO_0007509	ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015884	autosomal dominant hypohidrotic ectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0007744	cholesterol-ester transfer protein deficiency	http://purl.obolibrary.org/obo/MONDO_0001336	familial hyperlipidemia		
http://purl.obolibrary.org/obo/MONDO_0008810	familial apolipoprotein C-II deficiency	http://purl.obolibrary.org/obo/MONDO_0018637	familial chylomicronemia syndrome		
http://purl.obolibrary.org/obo/MONDO_0044737	autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0044637	infantile-onset generalized dyskinesia with orofacial involvement	http://purl.obolibrary.org/obo/MONDO_0015990	focal, segmental or multifocal dystonia		
http://purl.obolibrary.org/obo/MONDO_0008990	cleft larynx, posterior	http://purl.obolibrary.org/obo/MONDO_0016060	laryngotracheoesophageal cleft		
http://purl.obolibrary.org/obo/MONDO_0054869	nondystrophic myotonia	http://purl.obolibrary.org/obo/MONDO_0016120	myotonic syndrome		
http://purl.obolibrary.org/obo/MONDO_0008409	congenital myopathy 7A, myosin storage, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0981022	cardiomyopathy, dilated, 3C	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0957984	cardiomyopathy, dilated, 2j	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0044350	hyperparathyroidism, primary, caused by water clear cell hyperplasia	http://purl.obolibrary.org/obo/MONDO_0016365	familial primary hyperparathyroidism		
http://purl.obolibrary.org/obo/MONDO_0007796	hypoparathyroidism, familial isolated 1	http://purl.obolibrary.org/obo/MONDO_0016390	familial hypoparathyroidism		
http://purl.obolibrary.org/obo/MONDO_0975904	10p15 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016892	partial deletion of the short arm of chromosome 10		
http://purl.obolibrary.org/obo/MONDO_0008774	2-aminoadipic 2-oxoadipic aciduria	http://purl.obolibrary.org/obo/MONDO_0017351	inborn disorder of lysine and hydroxylysine metabolism		
http://purl.obolibrary.org/obo/MONDO_0008566	thyroid cancer, nonmedullary, 2	http://purl.obolibrary.org/obo/MONDO_0005034	thyroid gland follicular carcinoma		
http://purl.obolibrary.org/obo/MONDO_0009284	glutathione synthetase deficiency without 5-oxoprolinuria	http://purl.obolibrary.org/obo/MONDO_0020584	anemia due to enzyme disorder		
http://purl.obolibrary.org/obo/MONDO_0957807	hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	http://purl.obolibrary.org/obo/MONDO_0018037	hyper-IgE syndrome		
http://purl.obolibrary.org/obo/MONDO_0044635	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0018795	syndromic constitutional thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0008049	myopathy, distal, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0018949	distal myopathy		
http://purl.obolibrary.org/obo/MONDO_0008290	porokeratosis 1, Mibelli type	http://purl.obolibrary.org/obo/MONDO_0019141	porokeratosis of Mibelli		
http://purl.obolibrary.org/obo/MONDO_0008856	immunodeficiency 27A	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		
http://purl.obolibrary.org/obo/MONDO_0007772	pseudohypoaldosteronism type 2A	http://purl.obolibrary.org/obo/MONDO_0019162	pseudohypoaldosteronism type 2		
http://purl.obolibrary.org/obo/MONDO_0019742	late-onset nephronophthisis	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		
http://purl.obolibrary.org/obo/MONDO_0007546	myeloproliferative disorder, chronic, with eosinophilia	http://purl.obolibrary.org/obo/MONDO_0019452	myeloproliferative neoplasm, unclassifiable		
http://purl.obolibrary.org/obo/MONDO_0019807	mesocardia	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		
http://purl.obolibrary.org/obo/MONDO_0020428	congenital Gerbode defect	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		
http://purl.obolibrary.org/obo/MONDO_0020438	atrial septal aneurysm	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		
http://purl.obolibrary.org/obo/MONDO_0008266	polydactyly, postaxial, type A1	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0060550	polydactyly, postaxial, type a7	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0019791	recessive mitochondrial ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0016798	ataxia neuropathy spectrum		
http://purl.obolibrary.org/obo/MONDO_0044651	early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0016120	myotonic syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0018010	juvenile idiopathic inflammatory myopathy	http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy		
http://purl.obolibrary.org/obo/MONDO_0019953	mega-cisterna magna	http://purl.obolibrary.org/obo/MONDO_0020134	cystic malformation of the posterior fossa		
http://purl.obolibrary.org/obo/MONDO_0054669	pontocerebellar hypoplasia, type 11	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0008136	isolated optic nerve hypoplasia	http://purl.obolibrary.org/obo/MONDO_0800183	PAX6-related ocular dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0009135	anemia, congenital dyserythropoietic, type 1a	http://purl.obolibrary.org/obo/MONDO_0020337	congenital dyserythropoietic anemia type 1		
http://purl.obolibrary.org/obo/MONDO_0019819	double-orifice mitral valve	http://purl.obolibrary.org/obo/MONDO_0019818	cleft mitral valve		
http://purl.obolibrary.org/obo/MONDO_0020405	straddling and/or overriding mitral valve	http://purl.obolibrary.org/obo/MONDO_0019818	cleft mitral valve		
http://purl.obolibrary.org/obo/MONDO_0020442	left superior vena cava persisting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0019829	congenital anomaly of superior vena cava		
http://purl.obolibrary.org/obo/MONDO_0020448	right inferior vena cava connecting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0019830	congenital anomaly of the inferior vena cava		
http://purl.obolibrary.org/obo/MONDO_0020449	persistent eustachian valve	http://purl.obolibrary.org/obo/MONDO_0019830	congenital anomaly of the inferior vena cava		
http://purl.obolibrary.org/obo/MONDO_0020450	azygos continuation of the inferior vena cava	http://purl.obolibrary.org/obo/MONDO_0019830	congenital anomaly of the inferior vena cava		
http://purl.obolibrary.org/obo/MONDO_0020451	congenital stenosis of the inferior vena cava	http://purl.obolibrary.org/obo/MONDO_0019830	congenital anomaly of the inferior vena cava		
http://purl.obolibrary.org/obo/MONDO_0020452	inferior vena cava interruption	http://purl.obolibrary.org/obo/MONDO_0019830	congenital anomaly of the inferior vena cava		
http://purl.obolibrary.org/obo/MONDO_0020467	mosaic monosomy X	http://purl.obolibrary.org/obo/MONDO_0020466	monosomy X		
http://purl.obolibrary.org/obo/MONDO_0000338	variola major infectious disease	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		
http://purl.obolibrary.org/obo/MONDO_0000461	nutritional biotin deficiency	http://purl.obolibrary.org/obo/MONDO_0020699	biotin metabolic disease		
http://purl.obolibrary.org/obo/MONDO_0024312	cancer of short bone of upper limb	http://purl.obolibrary.org/obo/MONDO_0024311	cancer affecting bone of limb skeleton		
http://purl.obolibrary.org/obo/MONDO_0000953	cancer of short bone of lower limb	http://purl.obolibrary.org/obo/MONDO_0024311	cancer affecting bone of limb skeleton		
http://purl.obolibrary.org/obo/MONDO_0020596	mucin-producing carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		
http://purl.obolibrary.org/obo/MONDO_0000959	malignant hypertensive renal disease	http://purl.obolibrary.org/obo/MONDO_0006846	malignant hypertension		
http://purl.obolibrary.org/obo/MONDO_0001304	benign hypertensive renal disease	http://purl.obolibrary.org/obo/MONDO_0024633	hypertensive nephropathy		
http://purl.obolibrary.org/obo/MONDO_0017351	inborn disorder of lysine and hydroxylysine metabolism	http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0000288	polycystic echinococcosis	http://purl.obolibrary.org/obo/MONDO_0005738	echinococcosis		
http://purl.obolibrary.org/obo/MONDO_0044871	dystonia, focal, task-specific	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		
http://purl.obolibrary.org/obo/MONDO_0044700	SIN3A-related intellectual disability syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0044699	SIN3A-related intellectual disability syndrome		
http://purl.obolibrary.org/obo/NCBITaxon_2301119	Rhabditomorpha	http://purl.obolibrary.org/obo/NCBITaxon_2301116	Rhabditina		
http://purl.obolibrary.org/obo/NCBITaxon_207245	Fornicata	http://purl.obolibrary.org/obo/NCBITaxon_2611341	Metamonada		
http://purl.obolibrary.org/obo/NCBITaxon_10912	Rotavirus	http://purl.obolibrary.org/obo/NCBITaxon_2946186	Sedoreoviridae		
http://purl.obolibrary.org/obo/MONDO_0958191	nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0957318	nephrolithiasis, calcium oxalate		
http://purl.obolibrary.org/obo/MONDO_0958178	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1	http://purl.obolibrary.org/obo/MONDO_0957400	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis		
http://purl.obolibrary.org/obo/MONDO_0958193	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2	http://purl.obolibrary.org/obo/MONDO_0957400	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis		
http://purl.obolibrary.org/obo/MONDO_0020435	atrial septal defect, coronary sinus type	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		
http://purl.obolibrary.org/obo/MONDO_0060650	Leber congenital amaurosis with early-onset deafness	http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy		
http://purl.obolibrary.org/obo/PATO_0103000	quantitative	http://purl.obolibrary.org/obo/PATO_0000001	quality		
http://purl.obolibrary.org/obo/PATO_0000068	qualitative	http://purl.obolibrary.org/obo/PATO_0000001	quality		
http://purl.obolibrary.org/obo/PATO_0001236	process quality	http://purl.obolibrary.org/obo/PATO_0000001	quality		
http://purl.obolibrary.org/obo/PATO_0001241	physical object quality	http://purl.obolibrary.org/obo/PATO_0000001	quality		
http://purl.obolibrary.org/obo/PATO_0000299	mobile	http://purl.obolibrary.org/obo/PATO_0000004	mobility		
http://purl.obolibrary.org/obo/PATO_0000323	white	http://purl.obolibrary.org/obo/PATO_0000014	color		
http://purl.obolibrary.org/obo/PATO_0001447	calcified	http://purl.obolibrary.org/obo/PATO_0000025	composition		
http://purl.obolibrary.org/obo/PATO_0001450	edematous	http://purl.obolibrary.org/obo/PATO_0000025	composition		
http://purl.obolibrary.org/obo/PATO_0001759	granular	http://purl.obolibrary.org/obo/PATO_0000025	composition		
http://purl.obolibrary.org/obo/PATO_0002444	mineralized	http://purl.obolibrary.org/obo/PATO_0000025	composition		
http://purl.obolibrary.org/obo/PATO_0002462	collagenous	http://purl.obolibrary.org/obo/PATO_0000025	composition		
http://purl.obolibrary.org/obo/PATO_0002507	keratinous	http://purl.obolibrary.org/obo/PATO_0000025	composition		
http://purl.obolibrary.org/obo/PATO_0001655	osmolarity	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		
http://purl.obolibrary.org/obo/PATO_0002027	osmolality	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		
http://purl.obolibrary.org/obo/PATO_0000380	increased frequency	http://purl.obolibrary.org/obo/PATO_0055003	increased rate of occurrence		
http://purl.obolibrary.org/obo/PATO_0000381	decreased frequency	http://purl.obolibrary.org/obo/PATO_0055004	decreased rate of occurrence		
http://purl.obolibrary.org/obo/PATO_0000386	hard	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0000387	soft	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0000396	severe intensity	http://purl.obolibrary.org/obo/PATO_0000049	intensity		
http://purl.obolibrary.org/obo/PATO_0001782	increased intensity	http://purl.obolibrary.org/obo/PATO_0002300	increased quality		
http://purl.obolibrary.org/obo/PATO_0001783	decreased intensity	http://purl.obolibrary.org/obo/PATO_0002301	decreased quality		
http://purl.obolibrary.org/obo/PATO_0000014	color	http://purl.obolibrary.org/obo/PATO_0001300	optical quality		
http://purl.obolibrary.org/obo/PATO_0000052	shape	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0000060	spatial pattern	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0000117	size	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0000136	closure	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0000141	structure	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0000150	texture	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0001332	amorphous	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0001617	deformed	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0002083	altered number of	http://purl.obolibrary.org/obo/PATO_0001555	has number of		
http://purl.obolibrary.org/obo/PATO_0002092	anaplastic	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0001154	elongated	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0001410	striated	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0001481	sloped	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0001591	curvature	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0001786	split	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0001794	coiling	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0001925	surface feature shape	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0002005	concavity	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0002006	2-D shape	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0002009	branchiness	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0002165	drooping	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0002266	3-D shape	http://purl.obolibrary.org/obo/PATO_0000052	shape		
http://purl.obolibrary.org/obo/PATO_0000688	asynchronous	http://purl.obolibrary.org/obo/PATO_0000057	occurrence		
http://purl.obolibrary.org/obo/PATO_0000689	continuous	http://purl.obolibrary.org/obo/PATO_0000057	occurrence		
http://purl.obolibrary.org/obo/PATO_0000692	heterochronic	http://purl.obolibrary.org/obo/PATO_0000057	occurrence		
http://purl.obolibrary.org/obo/PATO_0001507	disrupted	http://purl.obolibrary.org/obo/PATO_0000057	occurrence		
http://purl.obolibrary.org/obo/PATO_0001818	progressive	http://purl.obolibrary.org/obo/PATO_0000057	occurrence		
http://purl.obolibrary.org/obo/PATO_0002051	increased occurrence	http://purl.obolibrary.org/obo/PATO_0002304	increased process quality		
http://purl.obolibrary.org/obo/PATO_0002052	decreased occurrence	http://purl.obolibrary.org/obo/PATO_0002302	decreased process quality		
http://purl.obolibrary.org/obo/PATO_0000330	irregular spatial pattern	http://purl.obolibrary.org/obo/PATO_0000060	spatial pattern		
http://purl.obolibrary.org/obo/PATO_0000627	localized	http://purl.obolibrary.org/obo/PATO_0000060	spatial pattern		
http://purl.obolibrary.org/obo/PATO_0000965	symmetry	http://purl.obolibrary.org/obo/PATO_0000060	spatial pattern		
http://purl.obolibrary.org/obo/PATO_0001566	distributed	http://purl.obolibrary.org/obo/PATO_0000060	spatial pattern		
http://purl.obolibrary.org/obo/PATO_0001609	sparse	http://purl.obolibrary.org/obo/PATO_0000060	spatial pattern		
http://purl.obolibrary.org/obo/PATO_0002403	generalized	http://purl.obolibrary.org/obo/PATO_0000060	spatial pattern		
http://purl.obolibrary.org/obo/PATO_0000049	intensity	http://purl.obolibrary.org/obo/PATO_0000068	qualitative		
http://purl.obolibrary.org/obo/PATO_0000069	deviation (from_normal)	http://purl.obolibrary.org/obo/PATO_0000068	qualitative		
http://purl.obolibrary.org/obo/PATO_0000461	normal	http://purl.obolibrary.org/obo/PATO_0000068	qualitative		
http://purl.obolibrary.org/obo/PATO_0000460	abnormal	http://purl.obolibrary.org/obo/PATO_0000069	deviation (from_normal)		
http://purl.obolibrary.org/obo/PATO_0002300	increased quality	http://purl.obolibrary.org/obo/PATO_0000069	deviation (from_normal)		
http://purl.obolibrary.org/obo/PATO_0002301	decreased quality	http://purl.obolibrary.org/obo/PATO_0000069	deviation (from_normal)		
http://purl.obolibrary.org/obo/PATO_0000033	concentration of	http://purl.obolibrary.org/obo/PATO_0000070	amount		
http://purl.obolibrary.org/obo/PATO_0000462	absent	http://purl.obolibrary.org/obo/PATO_0000070	amount		
http://purl.obolibrary.org/obo/PATO_0000467	present	http://purl.obolibrary.org/obo/PATO_0000070	amount		
http://purl.obolibrary.org/obo/PATO_0001555	has number of	http://purl.obolibrary.org/obo/PATO_0000070	amount		
http://purl.obolibrary.org/obo/PATO_0001845	irregular rhythm	http://purl.obolibrary.org/obo/PATO_0000078	rhythm quality		
http://purl.obolibrary.org/obo/PATO_0000927	photosensitivity	http://purl.obolibrary.org/obo/PATO_0000085	sensitivity toward		
http://purl.obolibrary.org/obo/PATO_0001043	susceptibility toward	http://purl.obolibrary.org/obo/PATO_0000085	sensitivity toward		
http://purl.obolibrary.org/obo/PATO_0000586	increased size	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0000587	decreased size	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001708	1-D extent	http://purl.obolibrary.org/obo/PATO_0000117	size		
http://purl.obolibrary.org/obo/PATO_0001710	3-D extent	http://purl.obolibrary.org/obo/PATO_0000117	size		
http://purl.obolibrary.org/obo/PATO_0000569	decreased height	http://purl.obolibrary.org/obo/PATO_0000587	decreased size		
http://purl.obolibrary.org/obo/PATO_0000570	increased height	http://purl.obolibrary.org/obo/PATO_0000586	increased size		
http://purl.obolibrary.org/obo/PATO_0002326	angle	http://purl.obolibrary.org/obo/PATO_0000133	orientation		
http://purl.obolibrary.org/obo/PATO_0000608	closed	http://purl.obolibrary.org/obo/PATO_0000136	closure		
http://purl.obolibrary.org/obo/PATO_0000610	open	http://purl.obolibrary.org/obo/PATO_0000136	closure		
http://purl.obolibrary.org/obo/PATO_0000133	orientation	http://purl.obolibrary.org/obo/PATO_0000140	position		
http://purl.obolibrary.org/obo/PATO_0001195	proximal to	http://purl.obolibrary.org/obo/PATO_0000140	position		
http://purl.obolibrary.org/obo/PATO_0001475	increased position	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001476	decreased position	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001652	alignment	http://purl.obolibrary.org/obo/PATO_0000140	position		
http://purl.obolibrary.org/obo/PATO_0001687	elevation	http://purl.obolibrary.org/obo/PATO_0000140	position		
http://purl.obolibrary.org/obo/PATO_0002181	displaced	http://purl.obolibrary.org/obo/PATO_0000140	position		
http://purl.obolibrary.org/obo/PATO_0000025	composition	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0000588	vestigial	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0000640	dysplastic	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0000642	fused with	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0000647	necrotic	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0000970	permeability	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0000973	porosity	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0001020	damage	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0001411	structured	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0001412	unstructured	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0001485	condensed	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0001847	constricted	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0001850	scarred	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0002011	neoplastic	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0002014	structure, cavities	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0002037	degeneration	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0002064	fenestrated	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0002103	infiltrative	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0002124	laminar	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0002422	acinar	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0010001	disconnected	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0015008	distensibility	http://purl.obolibrary.org/obo/PATO_0000141	structure		
http://purl.obolibrary.org/obo/PATO_0001928	blistered	http://purl.obolibrary.org/obo/PATO_0000150	texture		
http://purl.obolibrary.org/obo/PATO_0002255	grooved	http://purl.obolibrary.org/obo/PATO_0000150	texture		
http://purl.obolibrary.org/obo/PATO_0000911	decreased rate	http://purl.obolibrary.org/obo/PATO_0002302	decreased process quality		
http://purl.obolibrary.org/obo/PATO_0000912	increased rate	http://purl.obolibrary.org/obo/PATO_0002304	increased process quality		
http://purl.obolibrary.org/obo/PATO_0001185	larval	http://purl.obolibrary.org/obo/PATO_0000261	maturity		
http://purl.obolibrary.org/obo/PATO_0001190	juvenile	http://purl.obolibrary.org/obo/PATO_0000261	maturity		
http://purl.obolibrary.org/obo/PATO_0001501	immature	http://purl.obolibrary.org/obo/PATO_0000261	maturity		
http://purl.obolibrary.org/obo/PATO_0001701	mature	http://purl.obolibrary.org/obo/PATO_0000261	maturity		
http://purl.obolibrary.org/obo/PATO_0000956	sterile	http://purl.obolibrary.org/obo/PATO_0000274	fertility		
http://purl.obolibrary.org/obo/PATO_0002282	increased mobility	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0002283	decreased mobility	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001512	punctate	http://purl.obolibrary.org/obo/PATO_0000330	irregular spatial pattern		
http://purl.obolibrary.org/obo/PATO_0002045	dendritic	http://purl.obolibrary.org/obo/PATO_0000402	branched		
http://purl.obolibrary.org/obo/PATO_0001795	increased coiling	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001796	decreased coiling	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001469	curved ventral	http://purl.obolibrary.org/obo/PATO_0000406	curved		
http://purl.obolibrary.org/obo/PATO_0001592	increased curvature	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001593	decreased curvature	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001649	curved lateral	http://purl.obolibrary.org/obo/PATO_0000406	curved		
http://purl.obolibrary.org/obo/PATO_0001789	domed	http://purl.obolibrary.org/obo/PATO_0000406	curved		
http://purl.obolibrary.org/obo/PATO_0001869	pathological	http://purl.obolibrary.org/obo/PATO_0000460	abnormal		
http://purl.obolibrary.org/obo/PATO_0000470	increased amount	http://purl.obolibrary.org/obo/PATO_0002300	increased quality		
http://purl.obolibrary.org/obo/PATO_0001997	decreased amount	http://purl.obolibrary.org/obo/PATO_0002301	decreased quality		
http://purl.obolibrary.org/obo/PATO_0001473	duplicated	http://purl.obolibrary.org/obo/PATO_0000470	increased amount		
http://purl.obolibrary.org/obo/PATO_0001657	increased osmolarity	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0002002	has extra parts of type	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0002029	increased osmolality	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001697	decreased photosensitivity	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001698	increased photosensitivity	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001712	increased perimeter	http://purl.obolibrary.org/obo/PATO_0001711	perimeter		
http://purl.obolibrary.org/obo/PATO_0001713	decreased perimeter	http://purl.obolibrary.org/obo/PATO_0001711	perimeter		
http://purl.obolibrary.org/obo/PATO_0000573	increased length	http://purl.obolibrary.org/obo/PATO_0000122	length		
http://purl.obolibrary.org/obo/PATO_0000591	increased thickness	http://purl.obolibrary.org/obo/PATO_0000915	thickness		
http://purl.obolibrary.org/obo/PATO_0000595	increased volume	http://purl.obolibrary.org/obo/PATO_0000918	volume		
http://purl.obolibrary.org/obo/PATO_0000600	increased width	http://purl.obolibrary.org/obo/PATO_0000921	width		
http://purl.obolibrary.org/obo/PATO_0001571	dilated	http://purl.obolibrary.org/obo/PATO_0000586	increased size		
http://purl.obolibrary.org/obo/PATO_0001602	distended	http://purl.obolibrary.org/obo/PATO_0000586	increased size		
http://purl.obolibrary.org/obo/PATO_0000574	decreased length	http://purl.obolibrary.org/obo/PATO_0000122	length		
http://purl.obolibrary.org/obo/PATO_0000592	decreased thickness	http://purl.obolibrary.org/obo/PATO_0000915	thickness		
http://purl.obolibrary.org/obo/PATO_0000596	decreased volume	http://purl.obolibrary.org/obo/PATO_0000918	volume		
http://purl.obolibrary.org/obo/PATO_0000599	decreased width	http://purl.obolibrary.org/obo/PATO_0000921	width		
http://purl.obolibrary.org/obo/PATO_0000969	dwarf-like	http://purl.obolibrary.org/obo/PATO_0000587	decreased size		
http://purl.obolibrary.org/obo/PATO_0001623	atrophied	http://purl.obolibrary.org/obo/PATO_0000587	decreased size		
http://purl.obolibrary.org/obo/PATO_0001780	dystrophic	http://purl.obolibrary.org/obo/PATO_0000587	decreased size		
http://purl.obolibrary.org/obo/PATO_0000584	hypertrophic	http://purl.obolibrary.org/obo/PATO_0000595	increased volume		
http://purl.obolibrary.org/obo/PATO_0000585	hypotrophic	http://purl.obolibrary.org/obo/PATO_0000596	decreased volume		
http://purl.obolibrary.org/obo/PATO_0000648	obstructed	http://purl.obolibrary.org/obo/PATO_0000608	closed		
http://purl.obolibrary.org/obo/PATO_0001819	atretic	http://purl.obolibrary.org/obo/PATO_0000608	closed		
http://purl.obolibrary.org/obo/PATO_0000609	closure incomplete	http://purl.obolibrary.org/obo/PATO_0000610	open		
http://purl.obolibrary.org/obo/PATO_0001922	mislocalised posteriorly	http://purl.obolibrary.org/obo/PATO_0000628	mislocalised		
http://purl.obolibrary.org/obo/PATO_0015001	absence due to degeneration	http://purl.obolibrary.org/obo/PATO_0040060	absence of anatomical entity		
http://purl.obolibrary.org/obo/PATO_0000547	photosensitive	http://purl.obolibrary.org/obo/PATO_0000927	photosensitivity		
http://purl.obolibrary.org/obo/PATO_0000411	circular	http://purl.obolibrary.org/obo/PATO_0000947	elliptic		
http://purl.obolibrary.org/obo/PATO_0000963	opaque	http://purl.obolibrary.org/obo/PATO_0000957	opacity		
http://purl.obolibrary.org/obo/PATO_0000964	transparent	http://purl.obolibrary.org/obo/PATO_0000957	opacity		
http://purl.obolibrary.org/obo/PATO_0000616	asymmetrical	http://purl.obolibrary.org/obo/PATO_0000965	symmetry		
http://purl.obolibrary.org/obo/PATO_0000984	porous	http://purl.obolibrary.org/obo/PATO_0000973	porosity		
http://purl.obolibrary.org/obo/PATO_0000998	viscous	http://purl.obolibrary.org/obo/PATO_0000992	viscosity		
http://purl.obolibrary.org/obo/PATO_0001693	increased viscosity	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001694	decreased viscosity	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0000004	mobility	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0000140	position	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001019	mass density	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001031	elasticity	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001230	strength	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001414	catalytic activity	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001470	ratio	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001579	contractility	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001598	protruding	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001739	radiation quality	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001822	wetness	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0002198	quality of a substance	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0015021	combustibility	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001164	dense	http://purl.obolibrary.org/obo/PATO_0001019	mass density		
http://purl.obolibrary.org/obo/PATO_0001171	elastic	http://purl.obolibrary.org/obo/PATO_0001031	elasticity		
http://purl.obolibrary.org/obo/PATO_0001152	susceptible toward	http://purl.obolibrary.org/obo/PATO_0001043	susceptibility toward		
http://purl.obolibrary.org/obo/PATO_0001178	resistant to	http://purl.obolibrary.org/obo/PATO_0001046	resistance to		
http://purl.obolibrary.org/obo/PATO_0001669	increased susceptibility toward	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001670	decreased susceptibility toward	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001788	increased mass density	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001790	decreased mass density	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0002287	increased elasticity	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0002288	decreased elasticity	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001650	increased resistance to	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001651	decreased resistance to	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001778	increased strength	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001779	decreased strength	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001564	extra or missing processual parts	http://purl.obolibrary.org/obo/PATO_0001236	process quality		
http://purl.obolibrary.org/obo/PATO_0002062	physical quality of a process	http://purl.obolibrary.org/obo/PATO_0001236	process quality		
http://purl.obolibrary.org/obo/PATO_0002302	decreased process quality	http://purl.obolibrary.org/obo/PATO_0002301	decreased quality		
http://purl.obolibrary.org/obo/PATO_0002304	increased process quality	http://purl.obolibrary.org/obo/PATO_0002300	increased quality		
http://purl.obolibrary.org/obo/PATO_0000051	morphology	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/PATO_0001018	physical quality	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/PATO_0001509	functionality	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/PATO_0001727	disposition	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/PATO_0002182	molecular quality	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/PATO_0002290	aplastic/hypoplastic	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality	http://purl.obolibrary.org/obo/PATO_0002301	decreased quality		
http://purl.obolibrary.org/obo/PATO_0002305	increased object quality	http://purl.obolibrary.org/obo/PATO_0002300	increased quality		
http://purl.obolibrary.org/obo/PATO_0001294	radiation reflective quality	http://purl.obolibrary.org/obo/PATO_0001292	full-spectrum EM radiation quality		
http://purl.obolibrary.org/obo/PATO_0001297	reflectivity	http://purl.obolibrary.org/obo/PATO_0001294	radiation reflective quality		
http://purl.obolibrary.org/obo/PATO_0000957	opacity	http://purl.obolibrary.org/obo/PATO_0001300	optical quality		
http://purl.obolibrary.org/obo/PATO_0000389	acute	http://purl.obolibrary.org/obo/PATO_0001309	duration		
http://purl.obolibrary.org/obo/PATO_0000498	increased duration	http://purl.obolibrary.org/obo/PATO_0002304	increased process quality		
http://purl.obolibrary.org/obo/PATO_0000499	decreased duration	http://purl.obolibrary.org/obo/PATO_0002302	decreased process quality		
http://purl.obolibrary.org/obo/PATO_0001863	chronic	http://purl.obolibrary.org/obo/PATO_0001309	duration		
http://purl.obolibrary.org/obo/PATO_0001400	unipotent	http://purl.obolibrary.org/obo/PATO_0001397	cellular potency		
http://purl.obolibrary.org/obo/PATO_0001401	oligopotent	http://purl.obolibrary.org/obo/PATO_0001397	cellular potency		
http://purl.obolibrary.org/obo/PATO_0001402	multipotent	http://purl.obolibrary.org/obo/PATO_0001397	cellular potency		
http://purl.obolibrary.org/obo/PATO_0001405	anucleate	http://purl.obolibrary.org/obo/PATO_0001404	nucleate quality		
http://purl.obolibrary.org/obo/PATO_0002505	nucleated	http://purl.obolibrary.org/obo/PATO_0001404	nucleate quality		
http://purl.obolibrary.org/obo/PATO_0002478	transversely striated	http://purl.obolibrary.org/obo/PATO_0001410	striated		
http://purl.obolibrary.org/obo/PATO_0000274	fertility	http://purl.obolibrary.org/obo/PATO_0001434	reproductive quality		
http://purl.obolibrary.org/obo/PATO_0001618	increased tonicity	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001619	decreased tonicity	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001551	increased sensitivity of a process	http://purl.obolibrary.org/obo/PATO_0002304	increased process quality		
http://purl.obolibrary.org/obo/PATO_0001552	decreased sensitivity of a process	http://purl.obolibrary.org/obo/PATO_0002302	decreased process quality		
http://purl.obolibrary.org/obo/PATO_0001671	increased distribution	http://purl.obolibrary.org/obo/PATO_0001566	distributed		
http://purl.obolibrary.org/obo/PATO_0001688	increased elevation	http://purl.obolibrary.org/obo/PATO_0001687	elevation		
http://purl.obolibrary.org/obo/PATO_0002327	increased angle to	http://purl.obolibrary.org/obo/PATO_0002326	angle		
http://purl.obolibrary.org/obo/PATO_0001672	decreased distribution	http://purl.obolibrary.org/obo/PATO_0001566	distributed		
http://purl.obolibrary.org/obo/PATO_0001689	decreased elevation	http://purl.obolibrary.org/obo/PATO_0001687	elevation		
http://purl.obolibrary.org/obo/PATO_0002328	decreased angle to	http://purl.obolibrary.org/obo/PATO_0002326	angle		
http://purl.obolibrary.org/obo/PATO_0002143	sloped downward	http://purl.obolibrary.org/obo/PATO_0001481	sloped		
http://purl.obolibrary.org/obo/PATO_0001510	functional	http://purl.obolibrary.org/obo/PATO_0001509	functionality		
http://purl.obolibrary.org/obo/PATO_0001511	non-functional	http://purl.obolibrary.org/obo/PATO_0001509	functionality		
http://purl.obolibrary.org/obo/PATO_0001559	having extra function	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001626	sufficiency	http://purl.obolibrary.org/obo/PATO_0001509	functionality		
http://purl.obolibrary.org/obo/PATO_0001624	decreased functionality	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001625	increased functionality	http://purl.obolibrary.org/obo/PATO_0001559	having extra function		
http://purl.obolibrary.org/obo/PATO_0001544	flexible	http://purl.obolibrary.org/obo/PATO_0001543	flexibility		
http://purl.obolibrary.org/obo/PATO_0001545	inflexible	http://purl.obolibrary.org/obo/PATO_0001543	flexibility		
http://purl.obolibrary.org/obo/PATO_0001776	increased flexibility	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001777	decreased flexibility	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001558	lacking processual parts	http://purl.obolibrary.org/obo/PATO_0001564	extra or missing processual parts		
http://purl.obolibrary.org/obo/PATO_0001439	tonicity	http://purl.obolibrary.org/obo/PATO_0001579	contractility		
http://purl.obolibrary.org/obo/PATO_0001690	contractile	http://purl.obolibrary.org/obo/PATO_0001579	contractility		
http://purl.obolibrary.org/obo/PATO_0000406	curved	http://purl.obolibrary.org/obo/PATO_0001591	curvature		
http://purl.obolibrary.org/obo/PATO_0002254	flattened	http://purl.obolibrary.org/obo/PATO_0001591	curvature		
http://purl.obolibrary.org/obo/PATO_0000623	exserted	http://purl.obolibrary.org/obo/PATO_0001598	protruding		
http://purl.obolibrary.org/obo/PATO_0000643	herniated	http://purl.obolibrary.org/obo/PATO_0001598	protruding		
http://purl.obolibrary.org/obo/PATO_0001645	protruding into	http://purl.obolibrary.org/obo/PATO_0001598	protruding		
http://purl.obolibrary.org/obo/PATO_0000646	malformed	http://purl.obolibrary.org/obo/PATO_0001617	deformed		
http://purl.obolibrary.org/obo/PATO_0001628	insufficient	http://purl.obolibrary.org/obo/PATO_0001626	sufficiency		
http://purl.obolibrary.org/obo/PATO_0002163	herniated into	http://purl.obolibrary.org/obo/PATO_0001645	protruding into		
http://purl.obolibrary.org/obo/PATO_0001898	increased circumference	http://purl.obolibrary.org/obo/PATO_0001712	increased perimeter		
http://purl.obolibrary.org/obo/PATO_0001899	decreased circumference	http://purl.obolibrary.org/obo/PATO_0001713	decreased perimeter		
http://purl.obolibrary.org/obo/PATO_0001654	misaligned with	http://purl.obolibrary.org/obo/PATO_0001652	alignment		
http://purl.obolibrary.org/obo/PATO_0001656	decreased osmolarity	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0002089	polycystic	http://purl.obolibrary.org/obo/PATO_0001673	cystic		
http://purl.obolibrary.org/obo/PATO_0001580	increased contractility	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001581	decreased contractility	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0000119	height	http://purl.obolibrary.org/obo/PATO_0001708	1-D extent		
http://purl.obolibrary.org/obo/PATO_0000915	thickness	http://purl.obolibrary.org/obo/PATO_0001708	1-D extent		
http://purl.obolibrary.org/obo/PATO_0000921	width	http://purl.obolibrary.org/obo/PATO_0001708	1-D extent		
http://purl.obolibrary.org/obo/PATO_0001711	perimeter	http://purl.obolibrary.org/obo/PATO_0001708	1-D extent		
http://purl.obolibrary.org/obo/PATO_0001648	circumference	http://purl.obolibrary.org/obo/PATO_0001711	perimeter		
http://purl.obolibrary.org/obo/PATO_0002360	tendency	http://purl.obolibrary.org/obo/PATO_0001727	disposition		
http://purl.obolibrary.org/obo/PATO_0000404	coiled	http://purl.obolibrary.org/obo/PATO_0001794	coiling		
http://purl.obolibrary.org/obo/PATO_0000415	uncoiled	http://purl.obolibrary.org/obo/PATO_0001794	coiling		
http://purl.obolibrary.org/obo/PATO_0001824	dry	http://purl.obolibrary.org/obo/PATO_0001822	wetness		
http://purl.obolibrary.org/obo/PATO_0001828	male pseudohermaphrodite	http://purl.obolibrary.org/obo/PATO_0001827	pseudohermaphrodite		
http://purl.obolibrary.org/obo/PATO_0000403	cleft	http://purl.obolibrary.org/obo/PATO_0001857	concave		
http://purl.obolibrary.org/obo/PATO_0001748	invaginated	http://purl.obolibrary.org/obo/PATO_0001857	concave		
http://purl.obolibrary.org/obo/PATO_0002039	biconcave	http://purl.obolibrary.org/obo/PATO_0001857	concave		
http://purl.obolibrary.org/obo/PATO_0001499	spherical	http://purl.obolibrary.org/obo/PATO_0001865	spheroid		
http://purl.obolibrary.org/obo/PATO_0001874	discoid	http://purl.obolibrary.org/obo/PATO_0001873	cylindrical		
http://purl.obolibrary.org/obo/PATO_0002299	tubular	http://purl.obolibrary.org/obo/PATO_0002078	hollow		
http://purl.obolibrary.org/obo/PATO_0001827	pseudohermaphrodite	http://purl.obolibrary.org/obo/PATO_0001894	phenotypic sex		
http://purl.obolibrary.org/obo/PATO_0001406	binucleate	http://purl.obolibrary.org/obo/PATO_0001908	multinucleate		
http://purl.obolibrary.org/obo/PATO_0001365	spiny	http://purl.obolibrary.org/obo/PATO_0001925	surface feature shape		
http://purl.obolibrary.org/obo/PATO_0001910	folded	http://purl.obolibrary.org/obo/PATO_0001925	surface feature shape		
http://purl.obolibrary.org/obo/PATO_0002317	parallelogram	http://purl.obolibrary.org/obo/PATO_0001988	quadrangular		
http://purl.obolibrary.org/obo/PATO_0001993	multicellular	http://purl.obolibrary.org/obo/PATO_0001992	cellularity		
http://purl.obolibrary.org/obo/PATO_0002001	has fewer parts of type	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0002028	decreased osmolality	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0002000	lacks all parts of type	http://purl.obolibrary.org/obo/PATO_0001999	lacks parts or has fewer parts of type		
http://purl.obolibrary.org/obo/PATO_0001857	concave	http://purl.obolibrary.org/obo/PATO_0002005	concavity		
http://purl.obolibrary.org/obo/PATO_0001875	triangular	http://purl.obolibrary.org/obo/PATO_0002006	2-D shape		
http://purl.obolibrary.org/obo/PATO_0001988	quadrangular	http://purl.obolibrary.org/obo/PATO_0002006	2-D shape		
http://purl.obolibrary.org/obo/PATO_0002318	superelliptic	http://purl.obolibrary.org/obo/PATO_0002006	2-D shape		
http://purl.obolibrary.org/obo/PATO_0001865	spheroid	http://purl.obolibrary.org/obo/PATO_0002007	convex 3-D shape		
http://purl.obolibrary.org/obo/PATO_0001872	cuboid	http://purl.obolibrary.org/obo/PATO_0002007	convex 3-D shape		
http://purl.obolibrary.org/obo/PATO_0001873	cylindrical	http://purl.obolibrary.org/obo/PATO_0002007	convex 3-D shape		
http://purl.obolibrary.org/obo/PATO_0000402	branched	http://purl.obolibrary.org/obo/PATO_0002009	branchiness		
http://purl.obolibrary.org/obo/PATO_0002096	neoplastic, non-malignant	http://purl.obolibrary.org/obo/PATO_0002011	neoplastic		
http://purl.obolibrary.org/obo/PATO_0002097	neoplastic, malignant	http://purl.obolibrary.org/obo/PATO_0002011	neoplastic		
http://purl.obolibrary.org/obo/PATO_0002098	neoplastic, metastatic	http://purl.obolibrary.org/obo/PATO_0002011	neoplastic		
http://purl.obolibrary.org/obo/PATO_0002129	neoplastic, invasive	http://purl.obolibrary.org/obo/PATO_0002011	neoplastic		
http://purl.obolibrary.org/obo/PATO_0002132	neoplastic, non-invasive	http://purl.obolibrary.org/obo/PATO_0002011	neoplastic		
http://purl.obolibrary.org/obo/PATO_0001673	cystic	http://purl.obolibrary.org/obo/PATO_0002014	structure, cavities		
http://purl.obolibrary.org/obo/PATO_0001987	saccular	http://purl.obolibrary.org/obo/PATO_0002014	structure, cavities		
http://purl.obolibrary.org/obo/PATO_0002078	hollow	http://purl.obolibrary.org/obo/PATO_0002014	structure, cavities		
http://purl.obolibrary.org/obo/PATO_0000639	degenerate	http://purl.obolibrary.org/obo/PATO_0002037	degeneration		
http://purl.obolibrary.org/obo/ENVO_01003011	convective	http://purl.obolibrary.org/obo/PATO_0002062	physical quality of a process		
http://purl.obolibrary.org/obo/ENVO_01003012	advective	http://purl.obolibrary.org/obo/PATO_0002062	physical quality of a process		
http://purl.obolibrary.org/obo/PATO_0000161	rate	http://purl.obolibrary.org/obo/PATO_0002062	physical quality of a process		
http://purl.obolibrary.org/obo/PATO_0001309	duration	http://purl.obolibrary.org/obo/PATO_0002062	physical quality of a process		
http://purl.obolibrary.org/obo/PATO_0001457	sensitivity of a process	http://purl.obolibrary.org/obo/PATO_0002062	physical quality of a process		
http://purl.obolibrary.org/obo/PATO_0002323	temporal distribution quality	http://purl.obolibrary.org/obo/PATO_0002062	physical quality of a process		
http://purl.obolibrary.org/obo/PATO_0002071	increased affinity	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0002072	decreased affinity	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0000763	paralysed	http://purl.obolibrary.org/obo/PATO_0002076	movement behavioral quality		
http://purl.obolibrary.org/obo/PATO_0001999	lacks parts or has fewer parts of type	http://purl.obolibrary.org/obo/PATO_0002083	altered number of		
http://purl.obolibrary.org/obo/PATO_0000628	mislocalised	http://purl.obolibrary.org/obo/PATO_0002181	displaced		
http://purl.obolibrary.org/obo/PATO_0001852	dislocated	http://purl.obolibrary.org/obo/PATO_0002181	displaced		
http://purl.obolibrary.org/obo/PATO_0002070	affinity	http://purl.obolibrary.org/obo/PATO_0002182	molecular quality		
http://purl.obolibrary.org/obo/PATO_0000407	flat	http://purl.obolibrary.org/obo/PATO_0002254	flattened		
http://purl.obolibrary.org/obo/PATO_0002007	convex 3-D shape	http://purl.obolibrary.org/obo/PATO_0002266	3-D shape		
http://purl.obolibrary.org/obo/PATO_0000645	hypoplastic	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0001483	aplastic	http://purl.obolibrary.org/obo/PATO_0002291	agenesis		
http://purl.obolibrary.org/obo/PATO_0001306	decreased temperature	http://purl.obolibrary.org/obo/PATO_0000146	temperature		
http://purl.obolibrary.org/obo/PATO_0001562	decreased mass	http://purl.obolibrary.org/obo/PATO_0000125	mass		
http://purl.obolibrary.org/obo/PATO_0001575	decreased pressure	http://purl.obolibrary.org/obo/PATO_0001025	pressure		
http://purl.obolibrary.org/obo/PATO_0002362	decreased tendency	http://purl.obolibrary.org/obo/PATO_0002360	tendency		
http://purl.obolibrary.org/obo/PATO_0001333	temporally extended	http://purl.obolibrary.org/obo/PATO_0002324	offset quality		
http://purl.obolibrary.org/obo/PATO_0000644	hyperplastic	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0001305	increased temperature	http://purl.obolibrary.org/obo/PATO_0000146	temperature		
http://purl.obolibrary.org/obo/PATO_0001563	increased mass	http://purl.obolibrary.org/obo/PATO_0000125	mass		
http://purl.obolibrary.org/obo/PATO_0001576	increased pressure	http://purl.obolibrary.org/obo/PATO_0001025	pressure		
http://purl.obolibrary.org/obo/PATO_0002361	increased tendency	http://purl.obolibrary.org/obo/PATO_0002360	tendency		
http://purl.obolibrary.org/obo/PATO_0000413	square	http://purl.obolibrary.org/obo/PATO_0002317	parallelogram		
http://purl.obolibrary.org/obo/PATO_0000947	elliptic	http://purl.obolibrary.org/obo/PATO_0002318	superelliptic		
http://purl.obolibrary.org/obo/PATO_0000057	occurrence	http://purl.obolibrary.org/obo/PATO_0002323	temporal distribution quality		
http://purl.obolibrary.org/obo/PATO_0000078	rhythm quality	http://purl.obolibrary.org/obo/PATO_0002323	temporal distribution quality		
http://purl.obolibrary.org/obo/PATO_0002324	offset quality	http://purl.obolibrary.org/obo/PATO_0002323	temporal distribution quality		
http://purl.obolibrary.org/obo/PATO_0002325	onset quality	http://purl.obolibrary.org/obo/PATO_0002323	temporal distribution quality		
http://purl.obolibrary.org/obo/PATO_0000502	delayed	http://purl.obolibrary.org/obo/PATO_0002325	onset quality		
http://purl.obolibrary.org/obo/PATO_0000694	premature	http://purl.obolibrary.org/obo/PATO_0002325	onset quality		
http://purl.obolibrary.org/obo/PATO_0001407	mononucleate	http://purl.obolibrary.org/obo/PATO_0002505	nucleated		
http://purl.obolibrary.org/obo/PATO_0001908	multinucleate	http://purl.obolibrary.org/obo/PATO_0002505	nucleated		
http://purl.obolibrary.org/obo/PATO_0002468	distensible	http://purl.obolibrary.org/obo/PATO_0015008	distensibility		
http://purl.obolibrary.org/obo/NBO_0000929	frequency of drinking	http://purl.obolibrary.org/obo/NBO_0000133	liquid preference/aversion		
http://purl.obolibrary.org/obo/NBO_0000141	food preference	http://purl.obolibrary.org/obo/NBO_0000135	food preference/aversion		
http://purl.obolibrary.org/obo/NBO_0000142	food aversion	http://purl.obolibrary.org/obo/NBO_0000135	food preference/aversion		
http://purl.obolibrary.org/obo/NBO_0000754	rapid eye movement sleep phenotype	http://purl.obolibrary.org/obo/NBO_0000419	sleeping behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000135	food preference/aversion	http://purl.obolibrary.org/obo/NBO_0000539	eating behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000544	aphagia	http://purl.obolibrary.org/obo/NBO_0000539	eating behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000546	polyphagia	http://purl.obolibrary.org/obo/NBO_0000539	eating behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000162	REM duration	http://purl.obolibrary.org/obo/NBO_0000754	rapid eye movement sleep phenotype		
http://purl.obolibrary.org/obo/NBO_0000163	REM frequency	http://purl.obolibrary.org/obo/NBO_0000754	rapid eye movement sleep phenotype		
http://purl.obolibrary.org/obo/NBO_0000659	visual behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000655	sensation behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000756	mating behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000755	reproductive behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000758	sexual activity phenotype	http://purl.obolibrary.org/obo/NBO_0000755	reproductive behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000144	mating frequency	http://purl.obolibrary.org/obo/NBO_0000756	mating behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000762	copulation phenotype	http://purl.obolibrary.org/obo/NBO_0000758	sexual activity phenotype		
http://purl.obolibrary.org/obo/NBO_0000767	memory behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000765	learning and/or memory behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000961	increased frequency of drinking	http://purl.obolibrary.org/obo/NBO_0000929	frequency of drinking		
http://purl.obolibrary.org/obo/NBO_0000993	decreased frequency of drinking	http://purl.obolibrary.org/obo/NBO_0000929	frequency of drinking		
http://purl.obolibrary.org/obo/NBO_0000541	dipsosis	http://purl.obolibrary.org/obo/NBO_0000961	increased frequency of drinking		
http://purl.obolibrary.org/obo/NBO_0000543	hyperdipsia	http://purl.obolibrary.org/obo/NBO_0000961	increased frequency of drinking		
http://purl.obolibrary.org/obo/NCBITaxon_38625	Phascolarctos	http://purl.obolibrary.org/obo/NCBITaxon_38624	Phascolarctidae		
http://purl.obolibrary.org/obo/UBERON_0035165	posterior surface of prostate	http://purl.obolibrary.org/obo/UBERON_0035480	surface of prostate		
http://purl.obolibrary.org/obo/UBERON_0035523	anterior surface of prostate	http://purl.obolibrary.org/obo/UBERON_0035480	surface of prostate		
http://purl.obolibrary.org/obo/UBERON_0035846	fibrous enthesis	http://purl.obolibrary.org/obo/UBERON_0035845	enthesis		
http://purl.obolibrary.org/obo/UBERON_0035847	fibrocartilage enthesis	http://purl.obolibrary.org/obo/UBERON_0035845	enthesis		
http://purl.obolibrary.org/obo/NCIT_C13018	Organ	http://purl.obolibrary.org/obo/NCIT_C12219	Anatomic Structure, System, or Substance		
http://purl.obolibrary.org/obo/NCIT_C49165	Surgical Procedure by Method	http://purl.obolibrary.org/obo/NCIT_C15329	Surgical Procedure		
http://purl.obolibrary.org/obo/NCIT_C12736	Intestine	http://purl.obolibrary.org/obo/NCIT_C13018	Organ		
http://purl.obolibrary.org/obo/NCIT_C15329	Surgical Procedure	http://purl.obolibrary.org/obo/NCIT_C25218	Clinical Intervention or Procedure		
http://purl.obolibrary.org/obo/HP_0031397	Decreased naive T cell proportion	http://purl.obolibrary.org/obo/HP_0031396	Abnormal naive T cell proportion		
http://purl.obolibrary.org/obo/HP_0045005	Neural tube defect	http://purl.obolibrary.org/obo/HP_0410043	Abnormal neural tube morphology		
http://purl.obolibrary.org/obo/MONDO_0054722	geleophysic dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0000127	geleophysic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0958037	developmental dysplasia of the hip 3	http://purl.obolibrary.org/obo/MONDO_0000158	developmental dysplasia of the hip		
http://purl.obolibrary.org/obo/MONDO_0000303	conidiobolomycosis	http://purl.obolibrary.org/obo/MONDO_0005982	tinea infection		
http://purl.obolibrary.org/obo/MONDO_0981023	spondylocostal dysostosis 7, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0000359	spondylocostal dysostosis		
http://purl.obolibrary.org/obo/MONDO_0000104	anemia, hypochromic microcytic with iron overload	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060455	X-linked congenital hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia		
http://purl.obolibrary.org/obo/MONDO_0008408	scapuloperoneal spinal muscular atrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0060568	Pilarowski-Bjornsson syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0001856	splenic artery aneurysm	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		
http://purl.obolibrary.org/obo/MONDO_0044641	9q33.3q34.11 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016908	partial monosomy of the long arm of chromosome 9		
http://purl.obolibrary.org/obo/MONDO_0000947	psychosexual disorder	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		
http://purl.obolibrary.org/obo/MONDO_0019215	classic organic aciduria	http://purl.obolibrary.org/obo/MONDO_0000688	inborn organic aciduria		
http://purl.obolibrary.org/obo/MONDO_0000708	Crohn jejunoileitis	http://purl.obolibrary.org/obo/MONDO_0021207	Crohn jejunitis		
http://purl.obolibrary.org/obo/MONDO_0008483	stuttering, familial persistent, 1	http://purl.obolibrary.org/obo/MONDO_0000723	stutter disorder		
http://purl.obolibrary.org/obo/MONDO_0054741	combined oxidative phosphorylation deficiency 34	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0957992	combined oxidative phosphorylation deficiency 59	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0001211	total internal ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0002285	pupil disorder		
http://purl.obolibrary.org/obo/MONDO_0001329	accommodative spasm	http://purl.obolibrary.org/obo/MONDO_0000926	eye accommodation disease		
http://purl.obolibrary.org/obo/MONDO_0001178	pseudopterygium	http://purl.obolibrary.org/obo/MONDO_0000949	conjunctival degeneration		
http://purl.obolibrary.org/obo/MONDO_0001308	corneal deposit	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		
http://purl.obolibrary.org/obo/MONDO_0001310	Bowman's membrane folds or rupture	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		
http://purl.obolibrary.org/obo/MONDO_0001515	corneal degeneration	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		
http://purl.obolibrary.org/obo/MONDO_0001579	corneal staphyloma	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		
http://purl.obolibrary.org/obo/MONDO_0001716	corneal argyrosis	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		
http://purl.obolibrary.org/obo/MONDO_0001950	corneal ectasia	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		
http://purl.obolibrary.org/obo/MONDO_0040674	orgasm disorder	http://purl.obolibrary.org/obo/MONDO_0000947	psychosexual disorder		
http://purl.obolibrary.org/obo/MONDO_0001196	psychologic dyspareunia	http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder		
http://purl.obolibrary.org/obo/MONDO_0001055	conjunctival pterygium	http://purl.obolibrary.org/obo/MONDO_0005085	pterygium		
http://purl.obolibrary.org/obo/MONDO_0001784	malignant renovascular hypertension	http://purl.obolibrary.org/obo/MONDO_0001785	malignant secondary hypertension		
http://purl.obolibrary.org/obo/MONDO_0008225	normokalemic periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0000995	familial periodic paralysis		
http://purl.obolibrary.org/obo/MONDO_0001021	ametropic amblyopia	http://purl.obolibrary.org/obo/MONDO_0001020	amblyopia		
http://purl.obolibrary.org/obo/MONDO_0001022	disuse amblyopia	http://purl.obolibrary.org/obo/MONDO_0001020	amblyopia		
http://purl.obolibrary.org/obo/MONDO_0001338	acute apical periodontitis	http://purl.obolibrary.org/obo/MONDO_0004508	periapical periodontitis		
http://purl.obolibrary.org/obo/MONDO_0001035	hypopyon ulcer	http://purl.obolibrary.org/obo/MONDO_0001036	hypopyon		
http://purl.obolibrary.org/obo/MONDO_0001723	progressive peripheral pterygium	http://purl.obolibrary.org/obo/MONDO_0001055	conjunctival pterygium		
http://purl.obolibrary.org/obo/MONDO_0001079	pancreatic steatorrhea	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		
http://purl.obolibrary.org/obo/MONDO_0001607	intrapelvic lymph node leukemic reticuloendotheliosis	http://purl.obolibrary.org/obo/MONDO_0018935	hairy cell leukemia		
http://purl.obolibrary.org/obo/MONDO_0001614	intra-abdominal lymph node mast cell malignancy	http://purl.obolibrary.org/obo/MONDO_0001082	lymph node cancer		
http://purl.obolibrary.org/obo/MONDO_0001647	benign renovascular hypertension	http://purl.obolibrary.org/obo/MONDO_0001646	benign secondary hypertension		
http://purl.obolibrary.org/obo/MONDO_0016056	isolated congenital microcephaly	http://purl.obolibrary.org/obo/MONDO_0001149	microcephaly		
http://purl.obolibrary.org/obo/MONDO_0001689	hypertrophy of tongue papillae	http://purl.obolibrary.org/obo/MONDO_0001165	tongue disorder		
http://purl.obolibrary.org/obo/MONDO_0001906	posterior dislocation of lens	http://purl.obolibrary.org/obo/MONDO_0001176	lens disorder		
http://purl.obolibrary.org/obo/MONDO_0001319	bladder lateral wall cancer	http://purl.obolibrary.org/obo/MONDO_0001187	urinary bladder cancer		
http://purl.obolibrary.org/obo/MONDO_0001373	urinary bladder posterior wall cancer	http://purl.obolibrary.org/obo/MONDO_0001187	urinary bladder cancer		
http://purl.obolibrary.org/obo/MONDO_0001376	urinary bladder anterior wall cancer	http://purl.obolibrary.org/obo/MONDO_0001187	urinary bladder cancer		
http://purl.obolibrary.org/obo/MONDO_0000227	African tick-bite fever	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		
http://purl.obolibrary.org/obo/MONDO_0001785	malignant secondary hypertension	http://purl.obolibrary.org/obo/MONDO_0006846	malignant hypertension		
http://purl.obolibrary.org/obo/MONDO_0001207	neonatal respiratory failure	http://purl.obolibrary.org/obo/MONDO_0001208	acute respiratory failure		
http://purl.obolibrary.org/obo/MONDO_0001219	serous conjunctivitis except viral	http://purl.obolibrary.org/obo/MONDO_0001214	acute conjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0001228	conjunctival folliculosis	http://purl.obolibrary.org/obo/MONDO_0001214	acute conjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0001231	orbital periostitis	http://purl.obolibrary.org/obo/MONDO_0004934	periostitis		
http://purl.obolibrary.org/obo/MONDO_0001232	orbital osteomyelitis	http://purl.obolibrary.org/obo/MONDO_0001230	acute orbital inflammation		
http://purl.obolibrary.org/obo/MONDO_0001233	orbital tenonitis	http://purl.obolibrary.org/obo/MONDO_0001230	acute orbital inflammation		
http://purl.obolibrary.org/obo/MONDO_0019972	dural sinus malformation	http://purl.obolibrary.org/obo/MONDO_0001256	arteriovenous hemangioma/malformation		
http://purl.obolibrary.org/obo/MONDO_0001320	ring staphyloma	http://purl.obolibrary.org/obo/MONDO_0001269	scleral disorder		
http://purl.obolibrary.org/obo/MONDO_0001439	episcleritis periodica fugax	http://purl.obolibrary.org/obo/MONDO_0001269	scleral disorder		
http://purl.obolibrary.org/obo/MONDO_0001799	localized anterior staphyloma	http://purl.obolibrary.org/obo/MONDO_0001269	scleral disorder		
http://purl.obolibrary.org/obo/MONDO_0001800	equatorial staphyloma	http://purl.obolibrary.org/obo/MONDO_0001269	scleral disorder		
http://purl.obolibrary.org/obo/MONDO_0001801	staphyloma posticum	http://purl.obolibrary.org/obo/MONDO_0001269	scleral disorder		
http://purl.obolibrary.org/obo/MONDO_0001392	monocular exotropia	http://purl.obolibrary.org/obo/MONDO_0001286	exotropia		
http://purl.obolibrary.org/obo/MONDO_0001295	idiopathic peripheral autonomic neuropathy	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0001986	Argyll Robertson pupil	http://purl.obolibrary.org/obo/MONDO_0001303	abnormal pupillary function		
http://purl.obolibrary.org/obo/MONDO_0001488	anterior corneal pigmentation	http://purl.obolibrary.org/obo/MONDO_0001308	corneal deposit		
http://purl.obolibrary.org/obo/MONDO_0001717	posterior corneal pigmentation	http://purl.obolibrary.org/obo/MONDO_0001308	corneal deposit		
http://purl.obolibrary.org/obo/MONDO_0015083	nuclear oculomotor paralysis	http://purl.obolibrary.org/obo/MONDO_0001309	oculomotor nerve paralysis		
http://purl.obolibrary.org/obo/MONDO_0001144	partial third-nerve palsy	http://purl.obolibrary.org/obo/MONDO_0001309	oculomotor nerve paralysis		
http://purl.obolibrary.org/obo/MONDO_0001145	total third-nerve palsy	http://purl.obolibrary.org/obo/MONDO_0001309	oculomotor nerve paralysis		
http://purl.obolibrary.org/obo/MONDO_0001412	conjunctival concretion	http://purl.obolibrary.org/obo/MONDO_0001331	conjunctival deposit		
http://purl.obolibrary.org/obo/MONDO_0007759	hyperlipidemia, familial combined, LPL related	http://purl.obolibrary.org/obo/MONDO_0001336	familial hyperlipidemia		
http://purl.obolibrary.org/obo/MONDO_0001530	secondary hyperparathyroidism of renal origin	http://purl.obolibrary.org/obo/MONDO_0006964	secondary hyperparathyroidism		
http://purl.obolibrary.org/obo/MONDO_0008053	myopia 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0001452	pseudoretinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0001451	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0001453	senile reticular retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0001451	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0001454	Blessig's cysts	http://purl.obolibrary.org/obo/MONDO_0001451	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0001455	retinal lattice degeneration	http://purl.obolibrary.org/obo/MONDO_0001451	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0001456	cobblestone retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0001451	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0001457	secondary vitreoretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0001451	peripheral retinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0001466	punctate epithelial keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0004768	keratoconjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0001241	transient neonatal neutropenia	http://purl.obolibrary.org/obo/MONDO_0001475	neutropenia		
http://purl.obolibrary.org/obo/MONDO_0009002	coloboma, ocular, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0001492	kyphoscoliotic heart disease	http://purl.obolibrary.org/obo/MONDO_0001493	chronic pulmonary heart disease		
http://purl.obolibrary.org/obo/MONDO_0001511	thyrotoxic exophthalmos	http://purl.obolibrary.org/obo/MONDO_0001509	endocrine exophthalmos		
http://purl.obolibrary.org/obo/MONDO_0001643	exophthalmic ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0003425	ophthalmoplegia		
http://purl.obolibrary.org/obo/MONDO_0001368	phthisical cornea	http://purl.obolibrary.org/obo/MONDO_0001515	corneal degeneration		
http://purl.obolibrary.org/obo/MONDO_0001983	peripheral degeneration of cornea	http://purl.obolibrary.org/obo/MONDO_0001515	corneal degeneration		
http://purl.obolibrary.org/obo/MONDO_0002449	nodular degeneration of cornea	http://purl.obolibrary.org/obo/MONDO_0001515	corneal degeneration		
http://purl.obolibrary.org/obo/MONDO_0008453	adult-onset proximal spinal muscular atrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0020159	congenital entropion	http://purl.obolibrary.org/obo/MONDO_0001519	entropion		
http://purl.obolibrary.org/obo/MONDO_0001518	spastic entropion	http://purl.obolibrary.org/obo/MONDO_0001519	entropion		
http://purl.obolibrary.org/obo/MONDO_0001591	senile entropion	http://purl.obolibrary.org/obo/MONDO_0001519	entropion		
http://purl.obolibrary.org/obo/MONDO_0001636	mechanical entropion	http://purl.obolibrary.org/obo/MONDO_0001519	entropion		
http://purl.obolibrary.org/obo/MONDO_0001637	cicatricial entropion	http://purl.obolibrary.org/obo/MONDO_0001519	entropion		
http://purl.obolibrary.org/obo/MONDO_0001565	abnormal retinal correspondence	http://purl.obolibrary.org/obo/MONDO_0001564	binocular vision disease		
http://purl.obolibrary.org/obo/MONDO_0007614	congenital fibrosis of extraocular muscles	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0001327	pelvic muscle wasting	http://purl.obolibrary.org/obo/MONDO_0001592	prolapse of female genital organ		
http://purl.obolibrary.org/obo/MONDO_0001559	perineocele	http://purl.obolibrary.org/obo/MONDO_0001592	prolapse of female genital organ		
http://purl.obolibrary.org/obo/MONDO_0001885	lateral cystocele	http://purl.obolibrary.org/obo/MONDO_0001592	prolapse of female genital organ		
http://purl.obolibrary.org/obo/MONDO_0001886	midline cystocele	http://purl.obolibrary.org/obo/MONDO_0001592	prolapse of female genital organ		
http://purl.obolibrary.org/obo/MONDO_0001772	ulcer of anus and rectum	http://purl.obolibrary.org/obo/MONDO_0001593	rectal disorder		
http://purl.obolibrary.org/obo/MONDO_0021011	hereditary progressive chorea without dementia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0001603	paralytic lagophthalmos	http://purl.obolibrary.org/obo/MONDO_0001604	lagophthalmos		
http://purl.obolibrary.org/obo/MONDO_0001622	mechanical lagophthalmos	http://purl.obolibrary.org/obo/MONDO_0001604	lagophthalmos		
http://purl.obolibrary.org/obo/MONDO_0001623	cicatricial lagophthalmos	http://purl.obolibrary.org/obo/MONDO_0001604	lagophthalmos		
http://purl.obolibrary.org/obo/MONDO_0001638	protein-deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0001639	deficiency anemia		
http://purl.obolibrary.org/obo/MONDO_0001668	internal pathological resorption of tooth	http://purl.obolibrary.org/obo/MONDO_0001670	tooth resorption		
http://purl.obolibrary.org/obo/MONDO_0001988	external pathological resorption	http://purl.obolibrary.org/obo/MONDO_0001670	tooth resorption		
http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0001774	posterior scleritis	http://purl.obolibrary.org/obo/MONDO_0001718	scleritis		
http://purl.obolibrary.org/obo/MONDO_0001804	anterior scleritis	http://purl.obolibrary.org/obo/MONDO_0001718	scleritis		
http://purl.obolibrary.org/obo/MONDO_0001816	scleroperikeratitis	http://purl.obolibrary.org/obo/MONDO_0003085	keratitis		
http://purl.obolibrary.org/obo/MONDO_0001722	central pterygium	http://purl.obolibrary.org/obo/MONDO_0001723	progressive peripheral pterygium		
http://purl.obolibrary.org/obo/MONDO_0001792	epiphora due to insufficient drainage	http://purl.obolibrary.org/obo/MONDO_0001793	excessive tearing		
http://purl.obolibrary.org/obo/MONDO_0001918	epiphora due to excess lacrimation	http://purl.obolibrary.org/obo/MONDO_0001793	excessive tearing		
http://purl.obolibrary.org/obo/MONDO_0001936	brawny scleritis	http://purl.obolibrary.org/obo/MONDO_0001804	anterior scleritis		
http://purl.obolibrary.org/obo/MONDO_0001965	sclerosing keratitis	http://purl.obolibrary.org/obo/MONDO_0004903	deep keratitis		
http://purl.obolibrary.org/obo/MONDO_0001073	idiopathic progressive polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0001765	polyneuropathy in collagen vascular disease	http://purl.obolibrary.org/obo/MONDO_0001824	polyneuropathy		
http://purl.obolibrary.org/obo/MONDO_0001957	critical illness polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0001824	polyneuropathy		
http://purl.obolibrary.org/obo/MONDO_0000957	lacrimal passage granuloma	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		
http://purl.obolibrary.org/obo/MONDO_0001766	eversion of lacrimal punctum	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		
http://purl.obolibrary.org/obo/MONDO_0001767	stenosis of lacrimal punctum	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		
http://purl.obolibrary.org/obo/MONDO_0001768	stenosis of lacrimal passage	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		
http://purl.obolibrary.org/obo/MONDO_0001851	primary lacrimal atrophy	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		
http://purl.obolibrary.org/obo/MONDO_0002124	secondary lacrimal atrophy	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		
http://purl.obolibrary.org/obo/MONDO_0002511	stenosis of lacrimal sac	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		
http://purl.obolibrary.org/obo/MONDO_0001742	interval angle-closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001868	primary angle-closure glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001864	residual stage angle-closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001868	primary angle-closure glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001770	gastrin secretion abnormality	http://purl.obolibrary.org/obo/MONDO_0001933	endocrine pancreas disorder		
http://purl.obolibrary.org/obo/MONDO_0001962	abnormality of glucagon secretion	http://purl.obolibrary.org/obo/MONDO_0001933	endocrine pancreas disorder		
http://purl.obolibrary.org/obo/MONDO_0002239	post-surgical hypoinsulinemia	http://purl.obolibrary.org/obo/MONDO_0001933	endocrine pancreas disorder		
http://purl.obolibrary.org/obo/MONDO_0001582	cicatricial ectropion	http://purl.obolibrary.org/obo/MONDO_0002043	ectropion		
http://purl.obolibrary.org/obo/MONDO_0001695	senile ectropion	http://purl.obolibrary.org/obo/MONDO_0002043	ectropion		
http://purl.obolibrary.org/obo/MONDO_0002044	spastic ectropion	http://purl.obolibrary.org/obo/MONDO_0002043	ectropion		
http://purl.obolibrary.org/obo/MONDO_0041086	mixed anxiety and depressive disorder	http://purl.obolibrary.org/obo/MONDO_0005618	anxiety disorder		
http://purl.obolibrary.org/obo/MONDO_0018453	familial atypical multiple mole melanoma syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0002075	spontaneous tension pneumothorax	http://purl.obolibrary.org/obo/MONDO_0002076	pneumothorax		
http://purl.obolibrary.org/obo/MONDO_0008172	hypertrophic osteoarthropathy, primary, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016620	primary hypertrophic osteoarthropathy		
http://purl.obolibrary.org/obo/MONDO_0001771	infective urethral stricture	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		
http://purl.obolibrary.org/obo/MONDO_0002136	eczematous dermatitis of eyelid	http://purl.obolibrary.org/obo/MONDO_0002137	noninfectious dermatoses of eyelid		
http://purl.obolibrary.org/obo/MONDO_0024665	indeterminate sex and/or pseudohermaphroditism	http://purl.obolibrary.org/obo/MONDO_0002145	disorder of sexual differentiation		
http://purl.obolibrary.org/obo/MONDO_0024652	embryonic cyst of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0002156	fallopian tube disorder		
http://purl.obolibrary.org/obo/MONDO_0001393	peripheral focal chorioretinitis	http://purl.obolibrary.org/obo/MONDO_0002164	focal chorioretinitis		
http://purl.obolibrary.org/obo/MONDO_0001663	hole retinal cyst	http://purl.obolibrary.org/obo/MONDO_0002175	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/MONDO_0001919	cystoid macular retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0002175	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/MONDO_0001533	pes anserinus tendinitis or bursitis	http://purl.obolibrary.org/obo/MONDO_0002183	enthesopathy		
http://purl.obolibrary.org/obo/MONDO_0001747	tibial collateral ligament bursitis	http://purl.obolibrary.org/obo/MONDO_0002183	enthesopathy		
http://purl.obolibrary.org/obo/MONDO_0001551	ulceration of vulva	http://purl.obolibrary.org/obo/MONDO_0002187	vulvar disease		
http://purl.obolibrary.org/obo/MONDO_0002202	outlet dysfunction constipation	http://purl.obolibrary.org/obo/MONDO_0002203	constipation disorder		
http://purl.obolibrary.org/obo/MONDO_0000583	immunoglobulin beta deficiency	http://purl.obolibrary.org/obo/MONDO_0002211	B cell deficiency		
http://purl.obolibrary.org/obo/MONDO_0002468	hyperimmunoglobulin syndrome	http://purl.obolibrary.org/obo/MONDO_0002211	B cell deficiency		
http://purl.obolibrary.org/obo/MONDO_0020183	neurogenic palpebral tumor	http://purl.obolibrary.org/obo/MONDO_0002235	eyelid neoplasm		
http://purl.obolibrary.org/obo/MONDO_0024307	prothrombin deficiency	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		
http://purl.obolibrary.org/obo/MONDO_0001197	qualitative platelet defect	http://purl.obolibrary.org/obo/MONDO_0002245	blood platelet disease		
http://purl.obolibrary.org/obo/MONDO_0022723	chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023203	Fuchs atrophia gyrata chorioideae et retinae	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0008392	Roussy-Levy syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0044617	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0044643	congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0060556	joint laxity, short stature, and myopia	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0060592	Sweeney-Cox syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060631	Alkuraya-Kucinskas syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060711	Jaberi-Elahi syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060759	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0957400	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957553	Houge-Janssens syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957786	xerosis and growth failure with immune and pulmonary dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957787	Fliedner-Zweier syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957919	Lui-Jee-Baron syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957960	Long-Olsen-Distelmaier syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957990	Tan-Almurshedi syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957997	diabetes, deafness, developmental delay, and short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0958001	Alfadhel syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0958005	Hoxha-Aliu syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0000816	abdominal obesity-metabolic syndrome	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0002255	hypertrophic elongation of cervix	http://purl.obolibrary.org/obo/MONDO_0002256	cervix disorder		
http://purl.obolibrary.org/obo/MONDO_0044660	menstrual cycle-dependent periodic fever	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0001592	prolapse of female genital organ	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0001639	deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		
http://purl.obolibrary.org/obo/MONDO_0001303	abnormal pupillary function	http://purl.obolibrary.org/obo/MONDO_0002285	pupil disorder		
http://purl.obolibrary.org/obo/MONDO_0041093	central retinal vein occlusion with macular edema	http://purl.obolibrary.org/obo/MONDO_0002303	central retinal vein occlusion		
http://purl.obolibrary.org/obo/MONDO_0001853	contact blepharoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0002307	blepharoconjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0001257	retinal microaneurysm	http://purl.obolibrary.org/obo/MONDO_0002311	retinal vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0001685	chronic follicular conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0002314	chronic conjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0001690	parasitic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0002314	chronic conjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0044646	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0044699	SIN3A-related intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0060502	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0001136	chylocele of tunica vaginalis	http://purl.obolibrary.org/obo/MONDO_0002329	testicular disorder		
http://purl.obolibrary.org/obo/MONDO_0001366	splenic sequestration	http://purl.obolibrary.org/obo/MONDO_0002332	splenic disorder		
http://purl.obolibrary.org/obo/MONDO_0001683	pancreatic mucinous ductal ectasia	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		
http://purl.obolibrary.org/obo/MONDO_0001787	hepatic infarction	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0001788	nutmeg liver	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0044633	idiopathic pleuroparenchymal fibroelastosis	http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia		
http://purl.obolibrary.org/obo/MONDO_0001897	bilateral hyperactive labyrinth	http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder		
http://purl.obolibrary.org/obo/MONDO_0001959	labyrinthine bilateral reactive loss	http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder		
http://purl.obolibrary.org/obo/MONDO_0002106	labyrinthine unilateral reactive loss	http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder		
http://purl.obolibrary.org/obo/MONDO_0002107	unilateral hyperactive labyrinth	http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder		
http://purl.obolibrary.org/obo/MONDO_0001177	anorectal stricture	http://purl.obolibrary.org/obo/MONDO_0002519	anus disorder		
http://purl.obolibrary.org/obo/MONDO_0001274	anal spasm	http://purl.obolibrary.org/obo/MONDO_0002519	anus disorder		
http://purl.obolibrary.org/obo/MONDO_0021653	cutaneous focal mucinosis	http://purl.obolibrary.org/obo/MONDO_0002523	cutaneous mucinosis		
http://purl.obolibrary.org/obo/MONDO_0021654	diffuse cutaneous mucinosis	http://purl.obolibrary.org/obo/MONDO_0002523	cutaneous mucinosis		
http://purl.obolibrary.org/obo/MONDO_0008751	corticosterone methyloxidase type 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0045012	steroid metabolism disease		
http://purl.obolibrary.org/obo/MONDO_0040500	glycosylphosphatidylinositol biosynthesis defect 16	http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis		
http://purl.obolibrary.org/obo/MONDO_0060724	glycosylphosphatidylinositol biosynthesis defect 17	http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis		
http://purl.obolibrary.org/obo/MONDO_0024475	squamous cell intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0024474	intraepithelial neoplasia		
http://purl.obolibrary.org/obo/MONDO_0017738	lysosomal glycogen storage disease	http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease		
http://purl.obolibrary.org/obo/MONDO_0002379	cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0002601	teratoma		
http://purl.obolibrary.org/obo/MONDO_0001786	uterine inflammatory disease	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0001808	chronic subinvolution of uterus	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0001809	adhesions of uterus	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0015854	supernumerary breasts	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		
http://purl.obolibrary.org/obo/MONDO_0015856	syndromic breast hypoplasia/aplasia	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		
http://purl.obolibrary.org/obo/MONDO_0001775	chronic duodenal ileus	http://purl.obolibrary.org/obo/MONDO_0002688	duodenal obstruction		
http://purl.obolibrary.org/obo/MONDO_0001351	uterine adnexa cancer	http://purl.obolibrary.org/obo/MONDO_0002715	uterine cancer		
http://purl.obolibrary.org/obo/MONDO_0001438	postinflammatory pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0002771	pulmonary fibrosis		
http://purl.obolibrary.org/obo/MONDO_0001819	multiple cranial nerve palsy	http://purl.obolibrary.org/obo/MONDO_0002782	cranial nerve palsy		
http://purl.obolibrary.org/obo/MONDO_0002175	degeneration of macula and posterior pole	http://purl.obolibrary.org/obo/MONDO_0003004	macular degeneration		
http://purl.obolibrary.org/obo/MONDO_0001395	macular keratitis	http://purl.obolibrary.org/obo/MONDO_0003085	keratitis		
http://purl.obolibrary.org/obo/MONDO_0001465	superficial keratitis	http://purl.obolibrary.org/obo/MONDO_0003085	keratitis		
http://purl.obolibrary.org/obo/MONDO_0021577	malignant mediastinal neural neoplasm	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		
http://purl.obolibrary.org/obo/MONDO_0001202	prostatic cyst	http://purl.obolibrary.org/obo/MONDO_0003105	prostate disorder		
http://purl.obolibrary.org/obo/MONDO_0001496	male genital organ stricture	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0001497	male genital organ vascular disease	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0002526	dermal unilateral segmental cavernous angioma	http://purl.obolibrary.org/obo/MONDO_0003155	cavernous hemangioma		
http://purl.obolibrary.org/obo/MONDO_0054862	premature ovarian failure 15	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0001525	thyrocalcitonin secretion disease	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		
http://purl.obolibrary.org/obo/MONDO_0001365	necrosis of ear ossicle	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		
http://purl.obolibrary.org/obo/MONDO_0008680	Wilms tumor 2	http://purl.obolibrary.org/obo/MONDO_0003321	hereditary Wilms tumor		
http://purl.obolibrary.org/obo/MONDO_0008683	Wilms tumor 3	http://purl.obolibrary.org/obo/MONDO_0003321	hereditary Wilms tumor		
http://purl.obolibrary.org/obo/MONDO_0024663	primary skin meningioma	http://purl.obolibrary.org/obo/MONDO_0004429	skin meningioma		
http://purl.obolibrary.org/obo/MONDO_0020461	epiblepharon	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		
http://purl.obolibrary.org/obo/MONDO_0001604	lagophthalmos	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		
http://purl.obolibrary.org/obo/MONDO_0024376	sleep disorder, initiating and maintaining sleep	http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder		
http://purl.obolibrary.org/obo/MONDO_0000858	neuronal intestinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		
http://purl.obolibrary.org/obo/MONDO_0001272	functional diarrhea	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		
http://purl.obolibrary.org/obo/MONDO_0001143	paralytic strabismus	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		
http://purl.obolibrary.org/obo/MONDO_0001527	conjugate gaze palsy	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		
http://purl.obolibrary.org/obo/MONDO_0002152	intermittent squint	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		
http://purl.obolibrary.org/obo/MONDO_0044843	torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0003441	dystonic disorder		
http://purl.obolibrary.org/obo/MONDO_0001584	ocular motility disease	http://purl.obolibrary.org/obo/MONDO_0003569	cranial nerve neuropathy		
http://purl.obolibrary.org/obo/MONDO_0001006	glaucomatous atrophy of optic disk	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001084	primary optic atrophy	http://purl.obolibrary.org/obo/MONDO_0003608	optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0001086	partial optic atrophy	http://purl.obolibrary.org/obo/MONDO_0003608	optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0001172	salpingo-oophoritis	http://purl.obolibrary.org/obo/MONDO_0006877	oophoritis		
http://purl.obolibrary.org/obo/MONDO_0001547	atrophic nonflaccid tympanic membrane	http://purl.obolibrary.org/obo/MONDO_0003648	tympanic membrane disorder		
http://purl.obolibrary.org/obo/MONDO_0020102	hereditary stomatocytosis	http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia		
http://purl.obolibrary.org/obo/MONDO_0020457	6-phosphogluconate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia		
http://purl.obolibrary.org/obo/MONDO_0008689	dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	http://purl.obolibrary.org/obo/MONDO_0017910	dehydrated hereditary stomatocytosis		
http://purl.obolibrary.org/obo/MONDO_0001258	vertebral artery occlusion	http://purl.obolibrary.org/obo/MONDO_0020673	arterial occlusion		
http://purl.obolibrary.org/obo/MONDO_0001715	basilar artery occlusion	http://purl.obolibrary.org/obo/MONDO_0020673	arterial occlusion		
http://purl.obolibrary.org/obo/MONDO_0025351	multiple congenital anomalies-neurodevelopmental syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0025356	azoospermia, obstructive, with nephrolithiasis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957003	hereditary neuro-ophthalmological disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007390	coumarin resistance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007402	creatine phosphokinase, elevated serum	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007418	Darwinian tubercle of pinna	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007430	dens evaginatus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007459	dilution, pigmentary	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007460	discrimination, Two-point, reduction 1N	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007466	DNA, satellite, 3	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007467	DNA, low-repetitive sequences of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007497	ear antitragus, tag at base of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007498	ear exostoses	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007499	ear folding	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007500	ear malformation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007502	ear pits, posterior helical	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007530	electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007531	electroencephalographic peculiarity: fronto-precentral beta wave groups	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007535	emphysema, hereditary pulmonary	http://purl.obolibrary.org/obo/MONDO_0004849	pulmonary emphysema		
http://purl.obolibrary.org/obo/MONDO_0007545	Eosinophilopenia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007593	facial spasm	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007623	flushing of ears and somnolence	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007629	fragile site 10Q23	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007638	fucosidase regulator	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007657	giant neutrophil leukocytes	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007674	glucose-6-phosphate dehydrogenase-like	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007675	glutamic acid decarboxylase, brain, membrane form	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007676	glutathione transferase activity toward trans-stilbene oxide	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007689	guanylate kinase 3	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007697	hand clasping pattern	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007717	hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007742	5-hydroxytryptamine oxygenase regulator	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007754	hyperhidrosis palmaris ET plantaris	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007799	hypophosphatemic bone disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007807	hypoxanthine guanine phosphoribosyltransferase suppressor	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007824	incisors, lower central, absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007825	incisors, rotation of upper central	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007826	incisors, shovel-shaped	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007830	insensitivity to pain with hyperplastic Myelinopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007831	insect Stings, hypersensitivity to	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007832	interferon antiviral depressor	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007833	iris pigment layer, cleavage of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007847	keloid formation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007865	knuckle pads	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007870	labia minora, incomplete adhesion of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007910	lipoprotein types--Lt system	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007911	lipoprotein, variant of beta	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007912	lithium transport	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007913	low density lipoprotein, variation in molecular weight of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007941	malocclusion due to protuberant upper front teeth	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007942	Mammastatin	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007957	mediosternal depigmentation line	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007968	melanoma tumor antigen Gp90	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007980	metachromasia of fibroblasts	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008010	antigen defined by monoclonal antibody Aj9	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008011	antigen defined by monoclonal antibody T87	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008014	nondisjunction	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008037	myelinated optic nerve fibers	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008065	nasal groove, familial transverse	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008066	nasal hyperpigmentation, familial transverse	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008100	nipples inverted	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008124	omphalocele, autosomal	http://purl.obolibrary.org/obo/MONDO_0019015	omphalocele		
http://purl.obolibrary.org/obo/MONDO_0008181	palmaris longus muscle, absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008194	Paramolar tubercle of bolk	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008203	Passovoy factor defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008230	peroxidase, salivary	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008238	phosphatase, acid, of tissues	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008239	phosphoglucomutase 4	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008241	phosphoglycoprotein 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008252	platelet adenylate cyclase activity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008256	platelet membrane fluidity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008257	platelet responsiveness to adrenaline, depressed	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008281	polyposis, intestinal, scattered and discrete	http://purl.obolibrary.org/obo/MONDO_0000147	polyposis		
http://purl.obolibrary.org/obo/MONDO_0008304	premature chromatid separation trait	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008317	proteolytic capacity of plasma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008320	Protrusio acetabuli	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008350	pulmonic stenosis and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008361	radius, aplasia of, with cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008366	red cell permeability defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008376	retinal venous beading	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008398	salivary substance, Clostridium botulinum type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008427	sister chromatid exchange, frequency of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008435	Somatomedin, embryonic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008446	sperm protamine P4	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008462	split lower lip	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008481	spondylosis, cervical	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008489	sternum, premature obliteration of sutures of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008505	surface antigen, glycoprotein 75	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008507	surface polypeptides, anonymous	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008527	tarsal coalition	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008528	tear protein, anodal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008529	T-cell Subgroups, non-HLA-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008532	teeth present at birth	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008536	temperature-sensitive lethal mutation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008576	toe, fifth, number of phalanges 1N	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008577	toe, misshapen	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008578	toe, rotated fifth	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008579	toes, relative length of first and second	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008580	toes, space between first and second	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008581	malposition of teeth with or without hypodontia/oligodontia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008593	trichomegaly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008609	Tristichiasis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008614	suppressor of tumorigenicity 3	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008629	urolithiasis, uric acid, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008630	urinary bladder, atony of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008639	vascular helix of umbilical cord	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008643	veins, pattern of, on anterior thorax	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008687	Woronets trait	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008739	agenesis of cerebral white matter	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008801	anosmia for isobutyric acid	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008834	asthma, nasal polyps, and aspirin intolerance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008932	premature centromere division	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009017	corneal degeneration, band-shaped spheroid	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009048	curved nail of fourth toe	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009056	cutis verticis gyrata and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009063	ventriculomegaly-cystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009083	conductive deafness-malformed external ear syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009195	erythema of acral regions	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009244	Freesia Flowers, inability to smell	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009286	gluteal muscles, absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0056822	amyotonia congenita	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060456	cerebral sclerosis, diffuse, scholz type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060457	autoinflammation with arthritis and dyskeratosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060507	retinal dystrophy with or without macular staphyloma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060510	Cohen-Gibson syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060527	maleylacetoacetate isomerase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060532	congenital heart defects and skeletal malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060533	microcephaly, short stature, and limb abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060549	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060551	cerebellar atrophy, developmental delay, and seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060583	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060589	facial palsy, congenital, with ptosis and velopharyngeal dysfunction	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060591	immunodeficiency, developmental delay, and hypohomocysteinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060611	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060662	Diamond-Blackfan anemia-like	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060666	hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060677	chromosome 1p35 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016883	partial deletion of the short arm of chromosome 1		
http://purl.obolibrary.org/obo/MONDO_0060688	hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060713	deafness, congenital heart defects, and posterior embryotoxon	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060733	humerofemoral hypoplasia with radiotibial ray deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0060745	intellectual developmental disorder with or without epilepsy or cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957560	hearing loss, noise-induced, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0957561	encephalitis, acute, infection-induced, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0800174	encephalitis, acute, infection-induced, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0957563	cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957564	congenital smooth muscle hamartoma, with or without hemihypertrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957575	amegakaryocytic thrombocytopenia, congenital, 2	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957790	immune dysregulation, autoimmunity, and autoinflammation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957795	arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957810	developmental delay, dysmorphic facies, and brain anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957815	developmental delay with or without epilepsy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957832	craniometadiaphyseal osteosclerosis with hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0001434	inflammatory spondylopathy	http://purl.obolibrary.org/obo/MONDO_0003937	spondylitis		
http://purl.obolibrary.org/obo/MONDO_0001721	urethral intrinsic sphincter deficiency	http://purl.obolibrary.org/obo/MONDO_0004184	urethral disorder		
http://purl.obolibrary.org/obo/MONDO_0001730	urethral syndrome	http://purl.obolibrary.org/obo/MONDO_0004184	urethral disorder		
http://purl.obolibrary.org/obo/MONDO_0001155	gastrojejunal ulcer	http://purl.obolibrary.org/obo/MONDO_0004247	peptic ulcer disease		
http://purl.obolibrary.org/obo/MONDO_0021158	gonococcal epididymo-orchitis	http://purl.obolibrary.org/obo/MONDO_0004778	epididymo-orchitis		
http://purl.obolibrary.org/obo/MONDO_0001318	functional gastric disease	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		
http://purl.obolibrary.org/obo/MONDO_0001428	pylorospasm	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		
http://purl.obolibrary.org/obo/MONDO_0001469	cascade stomach	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		
http://purl.obolibrary.org/obo/MONDO_0001401	female breast nipple and areola cancer	http://purl.obolibrary.org/obo/MONDO_0004379	female breast carcinoma		
http://purl.obolibrary.org/obo/MONDO_0001805	female breast central part cancer	http://purl.obolibrary.org/obo/MONDO_0004379	female breast carcinoma		
http://purl.obolibrary.org/obo/MONDO_0001850	female breast lower-outer quadrant cancer	http://purl.obolibrary.org/obo/MONDO_0004379	female breast carcinoma		
http://purl.obolibrary.org/obo/MONDO_0002067	female breast upper-inner quadrant cancer	http://purl.obolibrary.org/obo/MONDO_0004379	female breast carcinoma		
http://purl.obolibrary.org/obo/MONDO_0002068	female breast lower-inner quadrant cancer	http://purl.obolibrary.org/obo/MONDO_0004379	female breast carcinoma		
http://purl.obolibrary.org/obo/MONDO_0007876	laryngeal abductor paralysis	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0001360	blind hypotensive eye	http://purl.obolibrary.org/obo/MONDO_0004390	ocular hypotension		
http://purl.obolibrary.org/obo/MONDO_0001503	primary eye hypotony	http://purl.obolibrary.org/obo/MONDO_0004390	ocular hypotension		
http://purl.obolibrary.org/obo/MONDO_0001104	toxic diffuse goiter	http://purl.obolibrary.org/obo/MONDO_0005397	goiter		
http://purl.obolibrary.org/obo/MONDO_0001113	Fiedler's myocarditis	http://purl.obolibrary.org/obo/MONDO_0004496	myocarditis		
http://purl.obolibrary.org/obo/MONDO_0001032	Mooren ulcer	http://purl.obolibrary.org/obo/MONDO_0004577	corneal ulcer		
http://purl.obolibrary.org/obo/MONDO_0001033	mycotic corneal ulcer	http://purl.obolibrary.org/obo/MONDO_0004577	corneal ulcer		
http://purl.obolibrary.org/obo/MONDO_0001034	marginal corneal ulcer	http://purl.obolibrary.org/obo/MONDO_0004577	corneal ulcer		
http://purl.obolibrary.org/obo/MONDO_0001037	ring corneal ulcer	http://purl.obolibrary.org/obo/MONDO_0004577	corneal ulcer		
http://purl.obolibrary.org/obo/MONDO_0001038	perforated corneal ulcer	http://purl.obolibrary.org/obo/MONDO_0004577	corneal ulcer		
http://purl.obolibrary.org/obo/MONDO_0001435	bullous retinoschisis	http://purl.obolibrary.org/obo/MONDO_0004579	retinoschisis		
http://purl.obolibrary.org/obo/MONDO_0001396	abnormal threshold of rods	http://purl.obolibrary.org/obo/MONDO_0004588	night blindness		
http://purl.obolibrary.org/obo/MONDO_0024415	hemorrhagic duodenitis	http://purl.obolibrary.org/obo/MONDO_0004627	duodenitis		
http://purl.obolibrary.org/obo/MONDO_0001733	occlusion of tributary of retinal vein	http://purl.obolibrary.org/obo/MONDO_0006951	retinal vein occlusion		
http://purl.obolibrary.org/obo/MONDO_0002164	focal chorioretinitis	http://purl.obolibrary.org/obo/MONDO_0004674	chorioretinitis		
http://purl.obolibrary.org/obo/MONDO_0019216	inborn disorder of amino acid transport	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0001686	anatomical narrow angle borderline glaucoma	http://purl.obolibrary.org/obo/MONDO_0004744	borderline glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001996	steroid-induced glaucoma - borderline	http://purl.obolibrary.org/obo/MONDO_0004744	borderline glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001230	acute orbital inflammation	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0001510	lateral displacement of eye	http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa		
http://purl.obolibrary.org/obo/MONDO_0001512	intermittent proptosis	http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa		
http://purl.obolibrary.org/obo/MONDO_0001513	pulsating exophthalmos	http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa		
http://purl.obolibrary.org/obo/MONDO_0001849	chronic orbital inflammation	http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa		
http://purl.obolibrary.org/obo/MONDO_0001915	orbital cyst	http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa		
http://purl.obolibrary.org/obo/MONDO_0001317	phlyctenulosis	http://purl.obolibrary.org/obo/MONDO_0004768	keratoconjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0001440	neurotrophic keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0004768	keratoconjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0001088	acute inferoposterior infarction	http://purl.obolibrary.org/obo/MONDO_0004781	acute myocardial infarction		
http://purl.obolibrary.org/obo/MONDO_0001089	acute inferolateral myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0004781	acute myocardial infarction		
http://purl.obolibrary.org/obo/MONDO_0001812	parasitic eyelid infestation	http://purl.obolibrary.org/obo/MONDO_0020947	parasitic eye infection		
http://purl.obolibrary.org/obo/MONDO_0001813	squamous blepharitis	http://purl.obolibrary.org/obo/MONDO_0004785	blepharitis		
http://purl.obolibrary.org/obo/MONDO_0002137	noninfectious dermatoses of eyelid	http://purl.obolibrary.org/obo/MONDO_0004785	blepharitis		
http://purl.obolibrary.org/obo/MONDO_0009220	visceral steatosis, congenital	http://purl.obolibrary.org/obo/MONDO_0004790	fatty liver disease		
http://purl.obolibrary.org/obo/MONDO_0001544	tibial nerve palsy	http://purl.obolibrary.org/obo/MONDO_0004797	mononeuritis of lower limb		
http://purl.obolibrary.org/obo/MONDO_0001588	chronic lacrimal gland enlargement	http://purl.obolibrary.org/obo/MONDO_0004804	dacryoadenitis		
http://purl.obolibrary.org/obo/MONDO_0001655	dissociated nystagmus	http://purl.obolibrary.org/obo/MONDO_0004843	pathologic nystagmus		
http://purl.obolibrary.org/obo/MONDO_0000924	compensatory emphysema	http://purl.obolibrary.org/obo/MONDO_0004849	pulmonary emphysema		
http://purl.obolibrary.org/obo/MONDO_0001905	bicipital tenosynovitis	http://purl.obolibrary.org/obo/MONDO_0004855	tenosynovitis		
http://purl.obolibrary.org/obo/MONDO_0002517	tenosynovitis of foot and ankle	http://purl.obolibrary.org/obo/MONDO_0004855	tenosynovitis		
http://purl.obolibrary.org/obo/MONDO_0001903	calcific tendinitis	http://purl.obolibrary.org/obo/MONDO_0004857	tendinitis		
http://purl.obolibrary.org/obo/MONDO_0001377	vitreous syneresis	http://purl.obolibrary.org/obo/MONDO_0004884	eye degenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0001363	blind hypertensive eye	http://purl.obolibrary.org/obo/MONDO_0004884	eye degenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0001390	transient refractive change	http://purl.obolibrary.org/obo/MONDO_0004892	refractive error		
http://purl.obolibrary.org/obo/MONDO_0001694	diffuse interstitial keratitis	http://purl.obolibrary.org/obo/MONDO_0004902	interstitial keratitis		
http://purl.obolibrary.org/obo/MONDO_0001611	phlegmonous dacryocystitis	http://purl.obolibrary.org/obo/MONDO_0004926	dacryocystitis		
http://purl.obolibrary.org/obo/MONDO_0000927	asymptomatic neurosyphilis	http://purl.obolibrary.org/obo/MONDO_0004944	neurosyphilis		
http://purl.obolibrary.org/obo/MONDO_0975866	B-lymphoblastic leukemia with TCF3-HLF fusion	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0975862	B-lymphoblastic leukemia with MEF2D rearrangement	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0044624	pediatric collagenous gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		
http://purl.obolibrary.org/obo/MONDO_0020512	precursor T-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0004967	acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0025354	spermatogenic failure, X-linked, 3	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054729	spermatogenic failure 25	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054731	spermatogenic failure 27	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054732	spermatogenic failure 28	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054733	spermatogenic failure 29	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0957584	spermatogenic failure 85	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0957593	spermatogenic failure 86	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0957594	spermatogenic failure 87	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0957821	spermatogenic failure 88	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0007440	major affective disorder 1	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0020665	high grade malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		
http://purl.obolibrary.org/obo/MONDO_0001899	rheumatic congestive heart failure	http://purl.obolibrary.org/obo/MONDO_0006955	rheumatic heart disease		
http://purl.obolibrary.org/obo/MONDO_0980999	fibromuscular dysplasia of the coronary arteries	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		
http://purl.obolibrary.org/obo/MONDO_0016338	non-familial dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005021	dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0001205	hypersecretion glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001206	aqueous misdirection	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001626	traumatic glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001394	chronic erythremia	http://purl.obolibrary.org/obo/MONDO_0005059	leukemia		
http://purl.obolibrary.org/obo/MONDO_0021187	hyperlipidemia	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		
http://purl.obolibrary.org/obo/MONDO_0000226	mineral metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		
http://purl.obolibrary.org/obo/MONDO_0016122	periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0008567	thyroid cancer, nonmedullary, 1	http://purl.obolibrary.org/obo/MONDO_0017896	familial nonmedullary thyroid carcinoma		
http://purl.obolibrary.org/obo/MONDO_0001423	drug-induced mental disorder	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		
http://purl.obolibrary.org/obo/MONDO_0002326	alcohol-induced mental disorder	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		
http://purl.obolibrary.org/obo/MONDO_0001054	double pterygium	http://purl.obolibrary.org/obo/MONDO_0005085	pterygium		
http://purl.obolibrary.org/obo/MONDO_0008888	Williams-Campbell syndrome	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		
http://purl.obolibrary.org/obo/MONDO_0019939	early-onset schizophrenia	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		
http://purl.obolibrary.org/obo/MONDO_0008273	actinic prurigo	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0001546	hypermobility of coccyx	http://purl.obolibrary.org/obo/MONDO_0005095	spondyloarthropathy		
http://purl.obolibrary.org/obo/MONDO_0008418	scleroderma, familial progressive	http://purl.obolibrary.org/obo/MONDO_0005100	systemic sclerosis		
http://purl.obolibrary.org/obo/MONDO_0002047	pulmonary systemic sclerosis	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		
http://purl.obolibrary.org/obo/MONDO_0024318	viral infection of central nervous system	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		
http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		
http://purl.obolibrary.org/obo/MONDO_0000316	opportunistic bacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		
http://purl.obolibrary.org/obo/MONDO_0001687	diabetic cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		
http://purl.obolibrary.org/obo/MONDO_0001285	endometriosis of pelvic peritoneum	http://purl.obolibrary.org/obo/MONDO_0005133	endometriosis		
http://purl.obolibrary.org/obo/MONDO_0001287	endometriosis in cutaneous scar	http://purl.obolibrary.org/obo/MONDO_0005133	endometriosis		
http://purl.obolibrary.org/obo/MONDO_0015126	polyendocrinopathy	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0044631	early-onset familial noncirrhotic portal hypertension	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		
http://purl.obolibrary.org/obo/MONDO_0957576	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	http://purl.obolibrary.org/obo/MONDO_0005180	Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0016345	non-familial restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005201	restrictive cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0001791	neonatal urinary tract infectious disease	http://purl.obolibrary.org/obo/MONDO_0005247	bacterial urinary tract infection		
http://purl.obolibrary.org/obo/MONDO_0054849	inflammatory bowel disease 29	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		
http://purl.obolibrary.org/obo/MONDO_0044649	omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0044632	extracranial carotid artery aneurysm	http://purl.obolibrary.org/obo/MONDO_0005269	carotid artery disorder		
http://purl.obolibrary.org/obo/MONDO_0001349	odontoclasia	http://purl.obolibrary.org/obo/MONDO_0005276	dental caries		
http://purl.obolibrary.org/obo/MONDO_0001506	prostatocystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		
http://purl.obolibrary.org/obo/MONDO_0044627	acute macular neuroretinopathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0001855	rubeosis iridis	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		
http://purl.obolibrary.org/obo/MONDO_0024650	drug-induced osteoporosis	http://purl.obolibrary.org/obo/MONDO_0005298	osteoporosis		
http://purl.obolibrary.org/obo/MONDO_0020249	hereditary optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0020252	essential strabismus	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0044685	autoimmune/inflammatory optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0001523	luxation of globe	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0002310	anterior dislocation of lens	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0016112	hereditary inclusion-body myopathy	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0008328	glaucoma 1, open angle, P	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		
http://purl.obolibrary.org/obo/MONDO_0001094	residual stage of open angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0005338	open-angle glaucoma		
http://purl.obolibrary.org/obo/MONDO_0007802	hypospadias 3, autosomal	http://purl.obolibrary.org/obo/MONDO_0005345	hypospadias		
http://purl.obolibrary.org/obo/MONDO_0008164	otosclerosis 1	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0957928	otosclerosis 11	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0000836	disease of bone structure	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		
http://purl.obolibrary.org/obo/MONDO_0016231	capillary malformation	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0019830	congenital anomaly of the inferior vena cava	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0044332	childhood-onset benign chorea with striatal involvement	http://purl.obolibrary.org/obo/MONDO_0015548	Huntington disease-like syndrome		
http://purl.obolibrary.org/obo/MONDO_0001815	extrapyramidal and movement disease	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		
http://purl.obolibrary.org/obo/MONDO_0002085	benign shuddering attacks	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		
http://purl.obolibrary.org/obo/MONDO_0001460	dyshormonogenic goiter	http://purl.obolibrary.org/obo/MONDO_0005397	goiter		
http://purl.obolibrary.org/obo/MONDO_0002002	postsurgical hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0005420	hypothyroidism		
http://purl.obolibrary.org/obo/MONDO_0007750	hypercholesterolemia, familial, 1	http://purl.obolibrary.org/obo/MONDO_0005439	familial hypercholesterolemia		
http://purl.obolibrary.org/obo/MONDO_0007751	hypercholesterolemia, autosomal dominant, type B	http://purl.obolibrary.org/obo/MONDO_0005439	familial hypercholesterolemia		
http://purl.obolibrary.org/obo/MONDO_0001480	malignant tumor of undescended testis	http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer		
http://purl.obolibrary.org/obo/MONDO_0100535	hypodontia/oligodontia with orofacial cleft	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		
http://purl.obolibrary.org/obo/MONDO_0100536	tooth agenesis, selective, with orofacial cleft	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		
http://purl.obolibrary.org/obo/MONDO_0043254	papular urticaria	http://purl.obolibrary.org/obo/MONDO_0006617	vesiculobullous skin disease		
http://purl.obolibrary.org/obo/MONDO_0001473	medulloadrenal hyperfunction	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		
http://purl.obolibrary.org/obo/MONDO_0957820	congenital disorder of glycosylation, type IIbb	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0000259	asymptomatic dengue	http://purl.obolibrary.org/obo/MONDO_0005502	dengue disease		
http://purl.obolibrary.org/obo/MONDO_0000389	atelosteogenesis	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0000446	midface dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0020477	progeria-associated arthropathy	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		
http://purl.obolibrary.org/obo/MONDO_0001987	senile degeneration of brain	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		
http://purl.obolibrary.org/obo/MONDO_0020143	cerebral lipidosis with dementia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0001291	brain compression	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0980998	fibromuscular dysplasia of the renal arteries	http://purl.obolibrary.org/obo/MONDO_0006761	fibromuscular dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017168	benign epithelial tumor of salivary glands	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		
http://purl.obolibrary.org/obo/MONDO_0044739	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	http://purl.obolibrary.org/obo/MONDO_0019810	toxic epidermal necrolysis		
http://purl.obolibrary.org/obo/MONDO_0000231	Far eastern spotted fever	http://purl.obolibrary.org/obo/MONDO_0005677	Rickettsia conorii infectious disease		
http://purl.obolibrary.org/obo/MONDO_0007719	diaphragmatic hernia 1	http://purl.obolibrary.org/obo/MONDO_0005711	congenital diaphragmatic hernia		
http://purl.obolibrary.org/obo/MONDO_0009103	diaphragmatic hernia 2	http://purl.obolibrary.org/obo/MONDO_0005711	congenital diaphragmatic hernia		
http://purl.obolibrary.org/obo/MONDO_0000283	Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		
http://purl.obolibrary.org/obo/MONDO_0000284	Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		
http://purl.obolibrary.org/obo/MONDO_0000346	Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		
http://purl.obolibrary.org/obo/MONDO_0001688	toxic optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005885	optic neuritis		
http://purl.obolibrary.org/obo/MONDO_0002077	low implantation of placenta	http://purl.obolibrary.org/obo/MONDO_0005918	placenta praevia		
http://purl.obolibrary.org/obo/MONDO_0000440	metabolic acidosis	http://purl.obolibrary.org/obo/MONDO_0006022	acidosis disorder		
http://purl.obolibrary.org/obo/MONDO_0007747	isolated hyperchlorhidrosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0044742	autosomal recessive epidermolytic ichthyosis	http://purl.obolibrary.org/obo/MONDO_0007239	epidermolytic ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0060564	HELIX syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		
http://purl.obolibrary.org/obo/MONDO_0041154	disorder of neck of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		
http://purl.obolibrary.org/obo/MONDO_0001446	low compliance bladder	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		
http://purl.obolibrary.org/obo/MONDO_0001447	detrusor sphincter dyssynergia	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		
http://purl.obolibrary.org/obo/MONDO_0000615	progesterone-receptor positive breast cancer	http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile		
http://purl.obolibrary.org/obo/MONDO_0000616	progesterone-receptor negative breast cancer	http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile		
http://purl.obolibrary.org/obo/MONDO_0000618	Her2-receptor negative breast cancer	http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile		
http://purl.obolibrary.org/obo/MONDO_0000949	conjunctival degeneration	http://purl.obolibrary.org/obo/MONDO_0006170	conjunctival disorder		
http://purl.obolibrary.org/obo/MONDO_0001331	conjunctival deposit	http://purl.obolibrary.org/obo/MONDO_0006170	conjunctival disorder		
http://purl.obolibrary.org/obo/MONDO_0001534	ocular hyperemia	http://purl.obolibrary.org/obo/MONDO_0006170	conjunctival disorder		
http://purl.obolibrary.org/obo/MONDO_0001861	malignant parietal pleura tumor	http://purl.obolibrary.org/obo/MONDO_0006294	pleural cancer		
http://purl.obolibrary.org/obo/MONDO_0001862	malignant visceral pleura tumor	http://purl.obolibrary.org/obo/MONDO_0006294	pleural cancer		
http://purl.obolibrary.org/obo/MONDO_0019971	melanoma of soft tissue	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		
http://purl.obolibrary.org/obo/MONDO_0008794	anhidrosis, familial generalized, with abnormal or absent sweat glands	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0958023	lipodystrophy, congenital generalized, type 5	http://purl.obolibrary.org/obo/MONDO_0006536	congenital generalized lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0001583	diabetic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0006626	diabetic neuropathy		
http://purl.obolibrary.org/obo/MONDO_0000499	non-arteritic anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0006649	anterior ischemic optic neuropathy		
http://purl.obolibrary.org/obo/MONDO_0020434	atrial septal defect, ostium secundum type	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		
http://purl.obolibrary.org/obo/MONDO_0020436	atrial septal defect, sinus venosus type	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		
http://purl.obolibrary.org/obo/MONDO_0002000	anaerobic meningitis	http://purl.obolibrary.org/obo/MONDO_0024389	anaerobic bacteria infectious disease		
http://purl.obolibrary.org/obo/MONDO_0001270	stone in bladder diverticulum	http://purl.obolibrary.org/obo/MONDO_0007197	bladder diverticulum		
http://purl.obolibrary.org/obo/MONDO_0001181	secondary corneal edema	http://purl.obolibrary.org/obo/MONDO_0006712	corneal edema		
http://purl.obolibrary.org/obo/MONDO_0001182	idiopathic corneal edema	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0001183	contact lens corneal edema	http://purl.obolibrary.org/obo/MONDO_0006712	corneal edema		
http://purl.obolibrary.org/obo/MONDO_0001430	deep corneal vascularisation	http://purl.obolibrary.org/obo/MONDO_0006713	corneal neovascularization		
http://purl.obolibrary.org/obo/MONDO_0980997	fibromuscular dysplasia of the cervical and intracranial arteries	http://purl.obolibrary.org/obo/MONDO_0006761	fibromuscular dysplasia		
http://purl.obolibrary.org/obo/MONDO_0981000	fibromuscular dysplasia of the visceral arteries	http://purl.obolibrary.org/obo/MONDO_0006761	fibromuscular dysplasia		
http://purl.obolibrary.org/obo/MONDO_0981001	fibromuscular dysplasia of the arteries of the extremities	http://purl.obolibrary.org/obo/MONDO_0006761	fibromuscular dysplasia		
http://purl.obolibrary.org/obo/MONDO_0001880	median rhomboid glossitis	http://purl.obolibrary.org/obo/MONDO_0006771	glossitis		
http://purl.obolibrary.org/obo/MONDO_0001989	atrophic glossitis	http://purl.obolibrary.org/obo/MONDO_0006771	glossitis		
http://purl.obolibrary.org/obo/MONDO_0002196	perinatal intestinal perforation	http://purl.obolibrary.org/obo/MONDO_0006807	intestinal perforation		
http://purl.obolibrary.org/obo/MONDO_0001468	synovial plica syndrome	http://purl.obolibrary.org/obo/MONDO_0056799	synovium disorder		
http://purl.obolibrary.org/obo/MONDO_0001798	hypermobility syndrome	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		
http://purl.obolibrary.org/obo/MONDO_0001736	neonatal infective mastitis	http://purl.obolibrary.org/obo/MONDO_0006849	mastitis		
http://purl.obolibrary.org/obo/MONDO_0001860	folic acid deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		
http://purl.obolibrary.org/obo/MONDO_0002410	pyeloureteritis cystica	http://purl.obolibrary.org/obo/MONDO_0006938	pyelitis		
http://purl.obolibrary.org/obo/MONDO_0002088	partial retinal vein occlusion	http://purl.obolibrary.org/obo/MONDO_0006951	retinal vein occlusion		
http://purl.obolibrary.org/obo/MONDO_0001750	non-renal secondary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0006964	secondary hyperparathyroidism		
http://purl.obolibrary.org/obo/MONDO_0002220	tooth hard tissue disease	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		
http://purl.obolibrary.org/obo/MONDO_0042370	Yersinia enterocolitica infectious disease	http://purl.obolibrary.org/obo/MONDO_0007023	Yersinia infectious disease		
http://purl.obolibrary.org/obo/MONDO_0019731	AApoAI amyloidosis	http://purl.obolibrary.org/obo/MONDO_0007099	familial visceral amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0019732	ALys amyloidosis	http://purl.obolibrary.org/obo/MONDO_0007099	familial visceral amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0019733	AFib amyloidosis	http://purl.obolibrary.org/obo/MONDO_0007099	familial visceral amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0054765	amyloidosis, primary localized cutaneous, 3	http://purl.obolibrary.org/obo/MONDO_0007101	familial primary localized cutaneous amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0020302	Angelman syndrome due to maternal 15q11q13 deletion	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		
http://purl.obolibrary.org/obo/MONDO_0020303	Angelman syndrome due to paternal uniparental disomy of chromosome 15	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0054581	Townes-Brocks syndrome 1	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		
http://purl.obolibrary.org/obo/MONDO_0054582	Townes-Brocks syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007142	Townes-Brocks syndrome		
http://purl.obolibrary.org/obo/MONDO_0001629	Jaccoud syndrome	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0958174	basal cell nevus syndrome 1	http://purl.obolibrary.org/obo/MONDO_0007187	nevoid basal cell carcinoma syndrome		
http://purl.obolibrary.org/obo/MONDO_0958189	basal cell nevus syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007187	nevoid basal cell carcinoma syndrome		
http://purl.obolibrary.org/obo/MONDO_0958184	epidermolytic hyperkeratosis 2	http://purl.obolibrary.org/obo/MONDO_0007239	epidermolytic ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0020359	congenital symblepharon	http://purl.obolibrary.org/obo/MONDO_0007410	isolated cryptophthalmia		
http://purl.obolibrary.org/obo/MONDO_0020360	complete cryptophthalmia	http://purl.obolibrary.org/obo/MONDO_0007410	isolated cryptophthalmia		
http://purl.obolibrary.org/obo/MONDO_0020361	partial cryptophthalmia	http://purl.obolibrary.org/obo/MONDO_0007410	isolated cryptophthalmia		
http://purl.obolibrary.org/obo/MONDO_0019875	Beckwith-Wiedemann syndrome due to 11p15 microduplication	http://purl.obolibrary.org/obo/MONDO_0016948	partial duplication of the short arm of chromosome 11		
http://purl.obolibrary.org/obo/MONDO_0019923	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0001562	displacement of cardia through esophageal hiatus	http://purl.obolibrary.org/obo/MONDO_0007721	hiatus hernia		
http://purl.obolibrary.org/obo/MONDO_0001664	submucous uterine fibroid	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		
http://purl.obolibrary.org/obo/MONDO_0001745	subserous uterine fibroid	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		
http://purl.obolibrary.org/obo/MONDO_0001843	uterus interstitial leiomyoma	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		
http://purl.obolibrary.org/obo/MONDO_0019725	pediatric systemic lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus		
http://purl.obolibrary.org/obo/MONDO_0001727	active cochleovestibular Meniere disease	http://purl.obolibrary.org/obo/MONDO_0007972	Meniere disease		
http://purl.obolibrary.org/obo/MONDO_0001728	active vestibular Meniere disease	http://purl.obolibrary.org/obo/MONDO_0007972	Meniere disease		
http://purl.obolibrary.org/obo/MONDO_0001729	active cochlear Meniere disease	http://purl.obolibrary.org/obo/MONDO_0007972	Meniere disease		
http://purl.obolibrary.org/obo/MONDO_0958176	oculopharyngeal muscular dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0008116	oculopharyngeal muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0958195	oculopharyngeal muscular dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0008116	oculopharyngeal muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0957318	nephrolithiasis, calcium oxalate	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0957577	variegate porphyria, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0008297	variegate porphyria		
http://purl.obolibrary.org/obo/MONDO_0020298	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0979905	ptosis, hereditary congenital, 1	http://purl.obolibrary.org/obo/MONDO_0008340	congenital ptosis		
http://purl.obolibrary.org/obo/MONDO_0001337	inflamed seborrheic keratosis	http://purl.obolibrary.org/obo/MONDO_0008420	seborrheic keratosis		
http://purl.obolibrary.org/obo/MONDO_0040502	glucocorticoid deficiency 5	http://purl.obolibrary.org/obo/MONDO_0008733	familial glucocorticoid deficiency		
http://purl.obolibrary.org/obo/MONDO_0042490	neutropenia, severe congenital, 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_1060165	ELANE-related neutropenia		
http://purl.obolibrary.org/obo/MONDO_0008726	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	http://purl.obolibrary.org/obo/MONDO_0008803	Antley-Bixler syndrome		
http://purl.obolibrary.org/obo/MONDO_0044206	otospondylomegaepiphyseal dysplasia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008975	otospondylomegaepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0054737	Fraser syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009046	Fraser syndrome		
http://purl.obolibrary.org/obo/MONDO_0019745	cystinuria type A	http://purl.obolibrary.org/obo/MONDO_0009067	cystinuria		
http://purl.obolibrary.org/obo/MONDO_0019746	cystinuria type B	http://purl.obolibrary.org/obo/MONDO_0009067	cystinuria		
http://purl.obolibrary.org/obo/MONDO_0054867	paraomphalocele	http://purl.obolibrary.org/obo/MONDO_0009264	gastroschisis		
http://purl.obolibrary.org/obo/MONDO_0054850	ovarian dysgenesis 6	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0008055	myotonia congenita, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		
http://purl.obolibrary.org/obo/MONDO_0958177	chronic recurrent multifocal osteomyelitis 3	http://purl.obolibrary.org/obo/MONDO_0009813	chronic recurrent multifocal osteomyelitis		
http://purl.obolibrary.org/obo/MONDO_0060732	tetraamelia syndrome 2	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		
http://purl.obolibrary.org/obo/MONDO_0060764	tetraamelia syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		
http://purl.obolibrary.org/obo/MONDO_0008732	adrenal hypoplasia, cytomegalic type	http://purl.obolibrary.org/obo/MONDO_0010264	X-linked adrenal hypoplasia congenita		
http://purl.obolibrary.org/obo/MONDO_0019766	X-linked intellectual disability, Porteous type	http://purl.obolibrary.org/obo/MONDO_0010653	Renpenning syndrome		
http://purl.obolibrary.org/obo/MONDO_0019769	X-linked intellectual disability, Sutherland-Haan type	http://purl.obolibrary.org/obo/MONDO_0010653	Renpenning syndrome		
http://purl.obolibrary.org/obo/MONDO_0042486	polyposis syndrome, hereditary mixed, 1	http://purl.obolibrary.org/obo/MONDO_0011023	hereditary mixed polyposis syndrome		
http://purl.obolibrary.org/obo/MONDO_0975905	10p13-p14 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0021548	total early-onset cataract	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		
http://purl.obolibrary.org/obo/MONDO_0001364	regular astigmatism	http://purl.obolibrary.org/obo/MONDO_0011284	astigmatism		
http://purl.obolibrary.org/obo/MONDO_0001831	irregular astigmatism	http://purl.obolibrary.org/obo/MONDO_0011284	astigmatism		
http://purl.obolibrary.org/obo/MONDO_0020353	von Hippel anomaly	http://purl.obolibrary.org/obo/MONDO_0011414	Peters anomaly		
http://purl.obolibrary.org/obo/MONDO_0007565	familial cylindromatosis	http://purl.obolibrary.org/obo/MONDO_0011512	Brooke-Spiegler syndrome		
http://purl.obolibrary.org/obo/MONDO_0958179	glycine encephalopathy 1	http://purl.obolibrary.org/obo/MONDO_0011612	glycine encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0958192	glycine encephalopathy 2	http://purl.obolibrary.org/obo/MONDO_0011612	glycine encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0054560	anauxetic dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0011773	anauxetic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0054561	anauxetic dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0011773	anauxetic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0958180	prolonged electroretinal response suppression 1	http://purl.obolibrary.org/obo/MONDO_0012033	bradyopsia		
http://purl.obolibrary.org/obo/MONDO_0958190	prolonged electroretinal response suppression 2	http://purl.obolibrary.org/obo/MONDO_0012033	bradyopsia		
http://purl.obolibrary.org/obo/MONDO_0054550	avascular necrosis of femoral head, primary, 1	http://purl.obolibrary.org/obo/MONDO_1030002	dysplasia of the proximal femoral epiphyses		
http://purl.obolibrary.org/obo/MONDO_0054551	avascular necrosis of femoral head, primary, 2	http://purl.obolibrary.org/obo/MONDO_0012126	familial avascular necrosis of femoral head		
http://purl.obolibrary.org/obo/MONDO_0958181	mitochondrial trifunctional protein deficiency 1	http://purl.obolibrary.org/obo/MONDO_0012172	mitochondrial trifunctional protein deficiency		
http://purl.obolibrary.org/obo/MONDO_0958185	mitochondrial trifunctional protein deficiency 2	http://purl.obolibrary.org/obo/MONDO_0012172	mitochondrial trifunctional protein deficiency		
http://purl.obolibrary.org/obo/MONDO_0054701	Kleefstra syndrome 2	http://purl.obolibrary.org/obo/MONDO_0012455	Kleefstra syndrome		
http://purl.obolibrary.org/obo/MONDO_0958182	C1Q deficiency 1	http://purl.obolibrary.org/obo/MONDO_0013343	C1Q deficiency		
http://purl.obolibrary.org/obo/MONDO_0958187	C1Q deficiency 2	http://purl.obolibrary.org/obo/MONDO_0013343	C1Q deficiency		
http://purl.obolibrary.org/obo/MONDO_0958188	C1Q deficiency 3	http://purl.obolibrary.org/obo/MONDO_0013343	C1Q deficiency		
http://purl.obolibrary.org/obo/MONDO_0020378	early-onset posterior polar cataract	http://purl.obolibrary.org/obo/MONDO_0013411	cataract 16 multiple types		
http://purl.obolibrary.org/obo/MONDO_0018814	non-SCID combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0019760	terminal transverse defects of arm	http://purl.obolibrary.org/obo/MONDO_0015167	amniotic band syndrome		
http://purl.obolibrary.org/obo/MONDO_0020043	autosomal recessive congenital cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0020044	autosomal recessive metabolic cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0020046	autosomal recessive degenerative and progressive cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0020406	complete atrioventricular canal-left heart obstruction syndrome	http://purl.obolibrary.org/obo/MONDO_0015273	complete atrioventricular canal		
http://purl.obolibrary.org/obo/MONDO_0020407	complete atrioventricular canal-ventricle hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015273	complete atrioventricular canal		
http://purl.obolibrary.org/obo/MONDO_0020408	complete atrioventricular canal-tetralogy of fallot syndrome	http://purl.obolibrary.org/obo/MONDO_0015273	complete atrioventricular canal		
http://purl.obolibrary.org/obo/MONDO_0017749	disorder of multiple glycosylation	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0060720	congenital disorder of glycosylation with defective fucosylation	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0957953	Garg-Mishra progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		
http://purl.obolibrary.org/obo/MONDO_0958175	craniofacial microsomia 1	http://purl.obolibrary.org/obo/MONDO_0015397	craniofacial microsomia		
http://purl.obolibrary.org/obo/MONDO_0958194	craniofacial microsomia 2	http://purl.obolibrary.org/obo/MONDO_0015397	craniofacial microsomia		
http://purl.obolibrary.org/obo/MONDO_0000943	acute hydrops keratoconus	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0001030	keratoconus, stable condition	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0958013	immunodeficiency, common variable, 15	http://purl.obolibrary.org/obo/MONDO_0100337	SEC61A1 deficiency		
http://purl.obolibrary.org/obo/MONDO_0025622	Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0007559	photoparoxysmal response 1	http://purl.obolibrary.org/obo/MONDO_0015643	photosensitive epilepsy		
http://purl.obolibrary.org/obo/MONDO_0957921	Cornelia de Lange syndrome 6	http://purl.obolibrary.org/obo/MONDO_0016033	Cornelia de Lange syndrome		
http://purl.obolibrary.org/obo/MONDO_0019738	atypical hemolytic-uremic syndrome with H factor anomaly	http://purl.obolibrary.org/obo/MONDO_0009335	hemolytic uremic syndrome, atypical, susceptibility to, 1		
http://purl.obolibrary.org/obo/MONDO_0019739	atypical hemolytic-uremic syndrome with anti-factor H antibodies	http://purl.obolibrary.org/obo/MONDO_0009335	hemolytic uremic syndrome, atypical, susceptibility to, 1		
http://purl.obolibrary.org/obo/MONDO_0007451	diabetes insipidus, nephrogenic, autosomal	http://purl.obolibrary.org/obo/MONDO_0016383	nephrogenic diabetes insipidus		
http://purl.obolibrary.org/obo/MONDO_0007843	Kabuki syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016512	Kabuki syndrome		
http://purl.obolibrary.org/obo/MONDO_0957922	ciliary dyskinesia, primary, 52	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0957991	ciliary dyskinesia, primary, 53	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0019817	congenital mitral valve insufficiency and/or stenosis	http://purl.obolibrary.org/obo/MONDO_0016582	congenital mitral malformation		
http://purl.obolibrary.org/obo/MONDO_0019818	cleft mitral valve	http://purl.obolibrary.org/obo/MONDO_0016582	congenital mitral malformation		
http://purl.obolibrary.org/obo/MONDO_0007961	megalencephaly, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016608	megalencephaly		
http://purl.obolibrary.org/obo/MONDO_0009147	ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016619	autosomal recessive hypohidrotic ectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0044628	six2-related frontonasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016643	frontonasal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0980991	microcephaly 31, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0054761	microcephaly 20, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0054805	microcephaly 22, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0008571	Blount disease, infantile	http://purl.obolibrary.org/obo/MONDO_0017194	Blount disease		
http://purl.obolibrary.org/obo/MONDO_0000828	juvenile-onset Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0054780	elliptocytosis 3	http://purl.obolibrary.org/obo/MONDO_0017319	hereditary elliptocytosis		
http://purl.obolibrary.org/obo/MONDO_0044723	3-methylglutaconic aciduria type 8	http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria		
http://purl.obolibrary.org/obo/MONDO_0019251	oligosaccharidosis	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		
http://purl.obolibrary.org/obo/MONDO_0002340	tactile epilepsy	http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy		
http://purl.obolibrary.org/obo/MONDO_0958009	spastic ataxia 10, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017845	spastic ataxia		
http://purl.obolibrary.org/obo/MONDO_0033010	erythrokeratodermia variabilis et progressiva 1	http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis		
http://purl.obolibrary.org/obo/MONDO_0020508	primary syringomyelia	http://purl.obolibrary.org/obo/MONDO_0017987	syringomyelia		
http://purl.obolibrary.org/obo/MONDO_0020386	double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0018089	double outlet right ventricle		
http://purl.obolibrary.org/obo/MONDO_0020387	double outlet right ventricle with subpulmonary ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0018089	double outlet right ventricle		
http://purl.obolibrary.org/obo/MONDO_0020388	double outlet right ventricle with non-committed subpulmonary ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0018089	double outlet right ventricle		
http://purl.obolibrary.org/obo/MONDO_0017625	familial primary hypomagnesemia with hypocalcuria	http://purl.obolibrary.org/obo/MONDO_0018100	familial primary hypomagnesemia		
http://purl.obolibrary.org/obo/MONDO_0000763	epithelial and subepithelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0009207	factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor	http://purl.obolibrary.org/obo/MONDO_0018175	combined deficiency of factor V and factor VIII		
http://purl.obolibrary.org/obo/MONDO_0007587	external auditory canal atresia-vertical talus-hypertelorism syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0958012	neurodegeneration with brain iron accumulation 9	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		
http://purl.obolibrary.org/obo/MONDO_0957809	neutropenia, severe congenital, 10, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0958017	neutropenia, severe congenital, 11, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0054565	short-rib thoracic dysplasia 17 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		
http://purl.obolibrary.org/obo/MONDO_0020526	acute megakaryoblastic leukemia in down syndrome	http://purl.obolibrary.org/obo/MONDO_0018872	acute megakaryoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0015491	immune complex mediated vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		
http://purl.obolibrary.org/obo/MONDO_0060714	tumoral calcinosis, hyperphosphatemic, familial, 2	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0060715	tumoral calcinosis, hyperphosphatemic, familial, 3	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0957811	Alport syndrome 3b, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018965	Alport syndrome		
http://purl.obolibrary.org/obo/MONDO_0044625	autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		
http://purl.obolibrary.org/obo/MONDO_0044657	MME-related autosomal dominant Charcot Marie Tooth disease type 2	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		
http://purl.obolibrary.org/obo/MONDO_0957988	osteogenesis imperfecta, type 23	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0044642	c11orf73-related autosomal recessive hypomyelinating leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0020459	unstable hemoglobin disease	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		
http://purl.obolibrary.org/obo/MONDO_0017739	disorder of lysosomal-related organelles	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0957813	spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0957958	spastic paraplegia 72b, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0018190	autosomal dominant childhood-onset proximal spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0019079	proximal spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0008316	thrombophilia due to protein C deficiency, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019145	hereditary thrombophilia due to congenital protein C deficiency		
http://purl.obolibrary.org/obo/MONDO_0008535	telangiectasia, hereditary hemorrhagic, type 1	http://purl.obolibrary.org/obo/MONDO_0019180	hereditary hemorrhagic telangiectasia		
http://purl.obolibrary.org/obo/MONDO_0049222	intellectual disability, X-linked 107	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0054708	retinitis pigmentosa 80	http://purl.obolibrary.org/obo/MONDO_0100509	IFT140-related recessive ciliopathy		
http://purl.obolibrary.org/obo/MONDO_0017689	disorder of fructose metabolism	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		
http://purl.obolibrary.org/obo/MONDO_0017706	disorder of carbohydrate transmembrane transport and absorption	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		
http://purl.obolibrary.org/obo/MONDO_0957954	lymphatic malformation 14	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0054852	peeling skin syndrome 6	http://purl.obolibrary.org/obo/MONDO_0019347	peeling skin syndrome		
http://purl.obolibrary.org/obo/MONDO_0020571	relapsing epidemic typhus	http://purl.obolibrary.org/obo/MONDO_0019362	epidemic louse-borne typhus		
http://purl.obolibrary.org/obo/MONDO_0054748	Fanconi anemia, complementation group S	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		
http://purl.obolibrary.org/obo/MONDO_0020385	congenitally uncorrected transposition of the great arteries with coarctation	http://purl.obolibrary.org/obo/MONDO_0019443	dextro-looped transposition of the great arteries		
http://purl.obolibrary.org/obo/MONDO_0024285	epsilon-heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0019464	heavy chain disease		
http://purl.obolibrary.org/obo/MONDO_0020466	monosomy X	http://purl.obolibrary.org/obo/MONDO_0700027	chromosome X disorder		
http://purl.obolibrary.org/obo/MONDO_0020472	Turner syndrome due to structural X chromosome anomalies	http://purl.obolibrary.org/obo/MONDO_0019499	Turner syndrome		
http://purl.obolibrary.org/obo/MONDO_0044313	intellectual disability, autosomal recessive 60	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0054861	intellectual disability, autosomal recessive 63	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0957999	intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0015048	amelogenesis imperfecta type 2	http://purl.obolibrary.org/obo/MONDO_0019507	amelogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0054860	hearing loss, autosomal recessive 110	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0957825	hearing loss, autosomal recessive 121	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0980987	xeroderma pigmentosum, complementation group J	http://purl.obolibrary.org/obo/MONDO_0019600	xeroderma pigmentosum		
http://purl.obolibrary.org/obo/MONDO_0017951	trichorhinophalangeal syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0020473	dappled diaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019701	chondrodysplasia punctata		
http://purl.obolibrary.org/obo/MONDO_0008016	trismus-pseudocamptodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0044406	arthrogryposis-ectodermal dysplasia-other anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0957819	arthrogryposis, distal, type 12	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0971044	Ehlers-Danlos syndrome, classic-like, 3	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		
http://purl.obolibrary.org/obo/MONDO_0958022	lipodystrophy, familial partial, type 8	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0958034	lipodystrophy, familial partial, type 9	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0044622	EMILIN-1-related connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0016420	familial flecked retinopathy	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0020372	early-onset sutural cataract	http://purl.obolibrary.org/obo/MONDO_0020379	early-onset zonular cataract		
http://purl.obolibrary.org/obo/MONDO_0020376	early-onset nuclear cataract	http://purl.obolibrary.org/obo/MONDO_0020379	early-onset zonular cataract		
http://purl.obolibrary.org/obo/MONDO_0016163	spinocerebellar ataxia 7	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0019794	autosomal dominant cerebellar ataxia type IV	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0000563	GRID2-related autosomal dominant spinocerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0020705	neural tube defects, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0100526	breast-ovarian cancer, familial, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0980989	dystonia 38, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0007462	multiple sclerosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0007487	dyslexia, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0007541	endometriosis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0007704	osteoarthritis susceptibility 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0008162	otitis media, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0008313	pelvic organ prolapse, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0008498	strabismus, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0008905	predisposition to invasive fungal disease due to CARD9 deficiency	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0008930	celiac disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011622	nephrolithiasis, uric acid, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0021012	susceptibility to visceral leishmaniasis, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0021024	malaria, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0044301	aortic aneurysm, familial thoracic 11, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0060670	amyotrophic lateral sclerosis, susceptibility to, 25	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0060671	epilepsy, juvenile myoclonic, susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0019930	Leydig cell hypoplasia due to complete LH resistance	http://purl.obolibrary.org/obo/MONDO_0009384	Leydig cell hypoplasia, type 1		
http://purl.obolibrary.org/obo/MONDO_0019931	Leydig cell hypoplasia due to partial LH resistance	http://purl.obolibrary.org/obo/MONDO_0009384	Leydig cell hypoplasia, type 1		
http://purl.obolibrary.org/obo/MONDO_0054698	proteasome-associated autoinflammatory syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009726	proteosome-associated autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0054699	proteasome-associated autoinflammatory syndrome 3	http://purl.obolibrary.org/obo/MONDO_0009726	proteosome-associated autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0042977	trichoepithelioma, multiple familial, 1	http://purl.obolibrary.org/obo/MONDO_0011114	familial multiple trichoepithelioma		
http://purl.obolibrary.org/obo/MONDO_0020113	primary acquired red cell aplasia	http://purl.obolibrary.org/obo/MONDO_0015610	acquired aplastic anemia		
http://purl.obolibrary.org/obo/MONDO_0019770	X-linked dominant intellectual disability-epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0016160	X-linked intellectual disability-epilepsy syndrome		
http://purl.obolibrary.org/obo/MONDO_0054794	hydrocephalus, congenital, 3, with brain anomalies	http://purl.obolibrary.org/obo/MONDO_0016349	congenital hydrocephalus		
http://purl.obolibrary.org/obo/MONDO_0000734	Ohdo syndrome and variants	http://purl.obolibrary.org/obo/MONDO_0017393	blepharophimosis - intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0019985	drug-related renal tubular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0017609	renal tubular dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0017714	acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017713	disorder of fatty acid oxidation and ketogenesis		
http://purl.obolibrary.org/obo/MONDO_0017715	3-hydroxyacyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017713	disorder of fatty acid oxidation and ketogenesis		
http://purl.obolibrary.org/obo/MONDO_0015624	diazoxide-sensitive diffuse hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0019010	congenital isolated hyperinsulinism		
http://purl.obolibrary.org/obo/MONDO_0008554	thrombocythemia 1	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		
http://purl.obolibrary.org/obo/MONDO_0017759	disorder of catecholamine synthesis	http://purl.obolibrary.org/obo/MONDO_0019219	inborn disorder of neurotransmitter metabolism and transport		
http://purl.obolibrary.org/obo/MONDO_0016697	low grade ependymoma	http://purl.obolibrary.org/obo/MONDO_0016698	ependymoma		
http://purl.obolibrary.org/obo/MONDO_0016801	mitochondrial substrate carrier disorder	http://purl.obolibrary.org/obo/MONDO_0016800	mitochondrial membrane transport disorder		
http://purl.obolibrary.org/obo/MONDO_0016887	partial deletion of the short arm of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0016870	partial deletion of chromosome 5		
http://purl.obolibrary.org/obo/MONDO_0016904	partial deletion of the long arm of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0016870	partial deletion of chromosome 5		
http://purl.obolibrary.org/obo/MONDO_0016892	partial deletion of the short arm of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016875	partial deletion of chromosome 10		
http://purl.obolibrary.org/obo/MONDO_0016893	partial deletion of the short arm of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016876	partial deletion of chromosome 11		
http://purl.obolibrary.org/obo/MONDO_0019897	distal monosomy 12q	http://purl.obolibrary.org/obo/MONDO_0016877	partial deletion of the long arm of chromosome 12		
http://purl.obolibrary.org/obo/MONDO_0019900	non-distal monosomy 12q	http://purl.obolibrary.org/obo/MONDO_0016877	partial deletion of the long arm of chromosome 12		
http://purl.obolibrary.org/obo/MONDO_0016894	partial deletion of the short arm of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0016878	partial deletion of chromosome 16		
http://purl.obolibrary.org/obo/MONDO_0019892	distal monosomy 7p	http://purl.obolibrary.org/obo/MONDO_0016889	partial deletion of the short arm of chromosome 7		
http://purl.obolibrary.org/obo/MONDO_0019896	Kleefstra syndrome due to 9q34 microdeletion	http://purl.obolibrary.org/obo/MONDO_0027407	Kleefstra syndrome 1		
http://purl.obolibrary.org/obo/MONDO_0019901	non-distal monosomy 20q	http://purl.obolibrary.org/obo/MONDO_0016918	partial deletion of the long arm of chromosome 20		
http://purl.obolibrary.org/obo/MONDO_0020393	discrete fibromuscular subaortic stenosis	http://purl.obolibrary.org/obo/MONDO_0017727	fixed subaortic stenosis		
http://purl.obolibrary.org/obo/MONDO_0020394	tunnel subaortic stenosis	http://purl.obolibrary.org/obo/MONDO_0017727	fixed subaortic stenosis		
http://purl.obolibrary.org/obo/MONDO_0017747	disorder of fucoglycosan synthesis	http://purl.obolibrary.org/obo/MONDO_0017741	disorder of protein O-glycosylation		
http://purl.obolibrary.org/obo/MONDO_0017313	disorder of folate metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0017758	disorder of vitamin and non-protein cofactor absorption and transport		
http://purl.obolibrary.org/obo/MONDO_0017764	disorder of zinc metabolism	http://purl.obolibrary.org/obo/MONDO_0017761	disorder of mineral absorption and transport		
http://purl.obolibrary.org/obo/MONDO_0020410	aorto-right ventricular tunnel	http://purl.obolibrary.org/obo/MONDO_0018082	aorto-ventricular tunnel		
http://purl.obolibrary.org/obo/MONDO_0020411	aorto-left ventricular tunnel	http://purl.obolibrary.org/obo/MONDO_0018082	aorto-ventricular tunnel		
http://purl.obolibrary.org/obo/MONDO_0019241	inborn disorder of the gamma-glutamyl cycle	http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0017716	disorder of carnitine cycle and carnitine transport	http://purl.obolibrary.org/obo/MONDO_0019223	disorder of fatty acid and ketone body metabolism		
http://purl.obolibrary.org/obo/MONDO_0017307	disorder of tyrosine metabolism	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0060729	protoporphyria, erythropoietic, 2	http://purl.obolibrary.org/obo/MONDO_0019263	autosomal erythropoietic protoporphyria		
http://purl.obolibrary.org/obo/MONDO_0019728	heavy chain deposition disease	http://purl.obolibrary.org/obo/MONDO_0019463	non-amyloid monoclonal immunoglobulin deposition disease		
http://purl.obolibrary.org/obo/MONDO_0019729	light and heavy chain deposition disease	http://purl.obolibrary.org/obo/MONDO_0019463	non-amyloid monoclonal immunoglobulin deposition disease		
http://purl.obolibrary.org/obo/MONDO_0020373	early-onset anterior polar cataract	http://purl.obolibrary.org/obo/MONDO_0020377	early-onset partial cataract		
http://purl.obolibrary.org/obo/HP_0040295	Duplication of the upper lip	http://purl.obolibrary.org/obo/HP_0000177	Abnormal upper lip morphology		
http://purl.obolibrary.org/obo/HP_0040309	Increased size of the mandible	http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology		
http://purl.obolibrary.org/obo/HP_0030319	Weakness of facial musculature	http://purl.obolibrary.org/obo/HP_0000301	Abnormality of facial musculature		
http://purl.obolibrary.org/obo/HP_0031527	Retinal edema	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0040051	Abnormality of upper eyelashes	http://purl.obolibrary.org/obo/HP_0000499	Abnormal eyelash morphology		
http://purl.obolibrary.org/obo/HP_0040052	Abnormality of lower eyelashes	http://purl.obolibrary.org/obo/HP_0000499	Abnormal eyelash morphology		
http://purl.obolibrary.org/obo/HP_0012776	Abnormal ciliary body morphology	http://purl.obolibrary.org/obo/HP_0000553	Abnormal uvea morphology		
http://purl.obolibrary.org/obo/HP_0040059	Calcification of ribs	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0040010	Small posterior fossa	http://purl.obolibrary.org/obo/HP_0000932	Abnormal posterior cranial fossa morphology		
http://purl.obolibrary.org/obo/HP_0040011	Flat posterior fossa	http://purl.obolibrary.org/obo/HP_0000932	Abnormal posterior cranial fossa morphology		
http://purl.obolibrary.org/obo/HP_0040161	Localized osteoporosis	http://purl.obolibrary.org/obo/HP_0000939	Osteoporosis		
http://purl.obolibrary.org/obo/HP_0030498	Macular thickening	http://purl.obolibrary.org/obo/HP_0001103	Abnormal macular morphology		
http://purl.obolibrary.org/obo/HP_0045087	Hip joint hypermobility	http://purl.obolibrary.org/obo/HP_0430047	Large joint hypermobilty		
http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology	http://purl.obolibrary.org/obo/HP_0001392	Abnormality of the liver		
http://purl.obolibrary.org/obo/HP_0031348	Dextrotransposition of the great arteries	http://purl.obolibrary.org/obo/HP_0001669	Transposition of the great arteries		
http://purl.obolibrary.org/obo/HP_0040034	Abnormality of the second metatarsal bone	http://purl.obolibrary.org/obo/HP_0001832	Abnormal metatarsal morphology		
http://purl.obolibrary.org/obo/HP_0030724	Central nervous system cyst	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0410043	Abnormal neural tube morphology	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0012762	Cerebral white matter atrophy	http://purl.obolibrary.org/obo/HP_0002500	Abnormal cerebral white matter morphology		
http://purl.obolibrary.org/obo/HP_0040304	Duplication of the sella turcica	http://purl.obolibrary.org/obo/HP_0002679	Abnormal sella turcica morphology		
http://purl.obolibrary.org/obo/HP_0030829	Abnormal breath sound	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		
http://purl.obolibrary.org/obo/HP_0045060	Aplasia/hypoplasia involving bones of the extremities	http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities		
http://purl.obolibrary.org/obo/HP_0045014	Hypolipidemia	http://purl.obolibrary.org/obo/HP_0003119	Abnormal circulating lipid concentration		
http://purl.obolibrary.org/obo/HP_0031301	Peripheral arterial calcification	http://purl.obolibrary.org/obo/HP_0003207	Arterial calcification		
http://purl.obolibrary.org/obo/HP_0030299	Abnormal distal femoral metaphysis morphology	http://purl.obolibrary.org/obo/HP_0006489	Abnormal femoral metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0040017	Protruding coccyx	http://purl.obolibrary.org/obo/HP_0008519	Abnormal coccyx morphology		
http://purl.obolibrary.org/obo/HP_0011443	Abnormality of coordination	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_0030313	Abnormal periosteum morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0034430	Abnormal joint physiology	http://purl.obolibrary.org/obo/HP_0011843	Abnormal musculoskeletal physiology		
http://purl.obolibrary.org/obo/HP_0040327	Abnormal morphology of the olfactory bulb	http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology		
http://purl.obolibrary.org/obo/HP_0031467	Dysregulated negative emotional state	http://purl.obolibrary.org/obo/HP_0100851	Abnormal emotional state		
http://purl.obolibrary.org/obo/NCBITaxon_2559587	Riboviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/UBERON_6000004	panarthropod head	http://purl.obolibrary.org/obo/UBERON_0000033	head		
http://purl.obolibrary.org/obo/UBERON_0035825	left adrenal gland cortex	http://purl.obolibrary.org/obo/UBERON_0001235	adrenal cortex		
http://purl.obolibrary.org/obo/UBERON_0035827	right adrenal gland cortex	http://purl.obolibrary.org/obo/UBERON_0001235	adrenal cortex		
http://purl.obolibrary.org/obo/UBERON_0035826	left adrenal gland medulla	http://purl.obolibrary.org/obo/UBERON_0001236	adrenal medulla		
http://purl.obolibrary.org/obo/UBERON_0035828	right adrenal gland medulla	http://purl.obolibrary.org/obo/UBERON_0001236	adrenal medulla		
http://purl.obolibrary.org/obo/UBERON_8480008	placental vein	http://purl.obolibrary.org/obo/UBERON_0022358	placenta blood vessel		
http://purl.obolibrary.org/obo/UBERON_0036267	vulval vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0035546	uveal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0035662	parotid vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0035237	branch of internal carotid artery	http://purl.obolibrary.org/obo/UBERON_0005396	carotid artery segment		
http://purl.obolibrary.org/obo/CL_4052002	syncytial cell	http://purl.obolibrary.org/obo/CL_0000228	multinucleate cell		
http://purl.obolibrary.org/obo/CHEBI_27690	acetazolamide	http://purl.obolibrary.org/obo/CHEBI_38099	thiadiazoles		
http://purl.obolibrary.org/obo/PATO_0000001	quality	http://purl.obolibrary.org/obo/BFO_0000020	specifically dependent continuant		
http://purl.obolibrary.org/obo/PATO_0000188	coordination	http://purl.obolibrary.org/obo/PATO_0000186	behavioral quality		
http://purl.obolibrary.org/obo/PATO_0002076	movement behavioral quality	http://purl.obolibrary.org/obo/PATO_0000186	behavioral quality		
http://purl.obolibrary.org/obo/PATO_0001393	euploid	http://purl.obolibrary.org/obo/PATO_0001374	ploidy		
http://purl.obolibrary.org/obo/PATO_0001397	cellular potency	http://purl.obolibrary.org/obo/PATO_0001396	cellular quality		
http://purl.obolibrary.org/obo/PATO_0001404	nucleate quality	http://purl.obolibrary.org/obo/PATO_0001396	cellular quality		
http://purl.obolibrary.org/obo/PATO_0001408	ciliated	http://purl.obolibrary.org/obo/PATO_0001396	cellular quality		
http://purl.obolibrary.org/obo/PATO_0000048	hardness	http://purl.obolibrary.org/obo/PATO_0001546	quality of a solid		
http://purl.obolibrary.org/obo/PATO_0001543	flexibility	http://purl.obolibrary.org/obo/PATO_0001546	quality of a solid		
http://purl.obolibrary.org/obo/PATO_0001736	solid configuration	http://purl.obolibrary.org/obo/PATO_0001546	quality of a solid		
http://purl.obolibrary.org/obo/PATO_0000992	viscosity	http://purl.obolibrary.org/obo/PATO_0001548	quality of a liquid		
http://purl.obolibrary.org/obo/PATO_0001735	liquid configuration	http://purl.obolibrary.org/obo/PATO_0001548	quality of a liquid		
http://purl.obolibrary.org/obo/PATO_0000085	sensitivity toward	http://purl.obolibrary.org/obo/PATO_0001995	organismal quality		
http://purl.obolibrary.org/obo/PATO_0000261	maturity	http://purl.obolibrary.org/obo/PATO_0001995	organismal quality		
http://purl.obolibrary.org/obo/PATO_0001046	resistance to	http://purl.obolibrary.org/obo/PATO_0001995	organismal quality		
http://purl.obolibrary.org/obo/PATO_0001434	reproductive quality	http://purl.obolibrary.org/obo/PATO_0001995	organismal quality		
http://purl.obolibrary.org/obo/PATO_0001992	cellularity	http://purl.obolibrary.org/obo/PATO_0001995	organismal quality		
http://purl.obolibrary.org/obo/SO_0002343	cytosolic_rRNA	http://purl.obolibrary.org/obo/SO_0000252	rRNA		
http://purl.obolibrary.org/obo/MONDO_0000944	cerebral artery occlusion	http://purl.obolibrary.org/obo/MONDO_1040016	cerebral artery stenosis		
http://purl.obolibrary.org/obo/ENVO_01003002	particle	http://purl.obolibrary.org/obo/ENVO_01001687	mass of solid material		
http://purl.obolibrary.org/obo/ENVO_01001824	ecological succession	http://purl.obolibrary.org/obo/ENVO_01001795	ecosystem process		
http://purl.obolibrary.org/obo/NCIT_C101267	Hormone Receptor Positive	http://purl.obolibrary.org/obo/NCIT_C188928	Hormone Receptor Status		
http://purl.obolibrary.org/obo/HP_0045086	Knee joint hypermobility	http://purl.obolibrary.org/obo/HP_0010500	Hyperextensibility of the knee		
http://purl.obolibrary.org/obo/MONDO_0957955	immunodeficiency 114, folate-responsive	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0980988	epilepsy, idiopathic generalized 20	http://purl.obolibrary.org/obo/MONDO_0800487	variable-age onset idiopathic generalized epilepsy syndrome		
http://purl.obolibrary.org/obo/CHEBI_35786	phosphosphingolipid	http://purl.obolibrary.org/obo/CHEBI_26739	sphingolipid		
http://purl.obolibrary.org/obo/CHEBI_35724	carbohydrate sulfate	http://purl.obolibrary.org/obo/CHEBI_63299	carbohydrate derivative		
http://purl.obolibrary.org/obo/CHEBI_46883	carboxy group	http://purl.obolibrary.org/obo/CHEBI_33249	organyl group		
http://purl.obolibrary.org/obo/CHEBI_43176	hydroxy group	http://purl.obolibrary.org/obo/CHEBI_33246	inorganic group		
http://purl.obolibrary.org/obo/CL_0019031	intestine goblet cell	http://purl.obolibrary.org/obo/CL_0002563	intestinal epithelial cell		
http://purl.obolibrary.org/obo/CL_4033083	squamous granulosa cell	http://purl.obolibrary.org/obo/CL_0000501	granulosa cell		
http://purl.obolibrary.org/obo/CL_4033084	cuboidal granulosa cell	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/CL_0019032	intestinal tuft cell	http://purl.obolibrary.org/obo/CL_0002563	intestinal epithelial cell		
http://purl.obolibrary.org/obo/CL_4052006	intestinal enteroendocrine progenitor	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0009097	embryonic skeletal muscle fiber	http://purl.obolibrary.org/obo/CL_0008002	skeletal muscle fiber		
http://purl.obolibrary.org/obo/HP_0030674	Antenatal onset	http://purl.obolibrary.org/obo/HP_0003674	Onset		
http://purl.obolibrary.org/obo/NCBITaxon_53258	Variola minor virus	http://purl.obolibrary.org/obo/NCBITaxon_10255	Variola virus		
http://purl.obolibrary.org/obo/NCBITaxon_3384189	Fusobacteriati	http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria		
http://purl.obolibrary.org/obo/NCBITaxon_45258	Rickettsia conorii subsp. israelensis	http://purl.obolibrary.org/obo/NCBITaxon_781	Rickettsia conorii		
http://purl.obolibrary.org/obo/NCBITaxon_319546	Rickettsia conorii subsp. conorii	http://purl.obolibrary.org/obo/NCBITaxon_781	Rickettsia conorii		
http://purl.obolibrary.org/obo/UBERON_8470001	sublumbar lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_8480007	placental artery	http://purl.obolibrary.org/obo/UBERON_0022358	placenta blood vessel		
http://purl.obolibrary.org/obo/UBERON_0035403	hypophysial artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0035508	branch of posterior cerebral artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0035548	colic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_8480001	capillary of brain	http://purl.obolibrary.org/obo/UBERON_0003499	brain blood vessel		
http://purl.obolibrary.org/obo/UBERON_0035845	enthesis	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0034971	aortic body	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0034972	jugular body	http://purl.obolibrary.org/obo/UBERON_0034979	nonchromaffin paraganglion		
http://purl.obolibrary.org/obo/NCBITaxon_5759	Entamoeba histolytica	http://purl.obolibrary.org/obo/NCBITaxon_5758	Entamoeba		
http://purl.obolibrary.org/obo/NCBITaxon_52651	Chabertiidae	http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea		
http://purl.obolibrary.org/obo/NCBITaxon_68336	Bacteroidota/Chlorobiota group	http://purl.obolibrary.org/obo/NCBITaxon_1783270	FCB group		
http://purl.obolibrary.org/obo/NCBITaxon_71584	Balantidium	http://purl.obolibrary.org/obo/NCBITaxon_71583	Balantidiidae		
http://purl.obolibrary.org/obo/NCBITaxon_1716	Corynebacterium	http://purl.obolibrary.org/obo/NCBITaxon_1653	Corynebacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5475	Candida	http://purl.obolibrary.org/obo/NCBITaxon_1535325	Candida/Lodderomyces clade		
http://purl.obolibrary.org/obo/NCBITaxon_209	Helicobacter	http://purl.obolibrary.org/obo/NCBITaxon_72293	Helicobacteraceae		
http://purl.obolibrary.org/obo/NCBITaxon_5864	Babesia	http://purl.obolibrary.org/obo/NCBITaxon_32594	Babesiidae		
http://purl.obolibrary.org/obo/NCBITaxon_33265	Dictyocaulinae	http://purl.obolibrary.org/obo/NCBITaxon_33264	Dictyocaulidae		
http://purl.obolibrary.org/obo/NCBITaxon_53469	Ancylostomatinae	http://purl.obolibrary.org/obo/NCBITaxon_33278	Ancylostomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_9393	Tupaiidae	http://purl.obolibrary.org/obo/NCBITaxon_9392	Scandentia		
http://purl.obolibrary.org/obo/MONDO_0054588	Noonan syndrome-like disorder with loose anagen hair 2	http://purl.obolibrary.org/obo/MONDO_0011899	Noonan syndrome-like disorder with loose anagen hair		
http://purl.obolibrary.org/obo/MONDO_0054637	Noonan syndrome-like disorder with loose anagen hair 1	http://purl.obolibrary.org/obo/MONDO_0011899	Noonan syndrome-like disorder with loose anagen hair		
http://purl.obolibrary.org/obo/MONDO_0957874	neuronopathy, distal hereditary motor, autosomal recessive 9	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0957876	neuronopathy, distal hereditary motor, autosomal recessive 10	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0019895	distal monosomy 4q	http://purl.obolibrary.org/obo/MONDO_0016903	partial deletion of the long arm of chromosome 4		
http://purl.obolibrary.org/obo/MONDO_0044717	4q25 proximal deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0008653	vesicoureteral reflux 1	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		
http://purl.obolibrary.org/obo/MONDO_0019986	sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019401	sporadic idiopathic steroid-resistant nephrotic syndrome		
http://purl.obolibrary.org/obo/HP_0031942	Congenital absence of portal vein	http://purl.obolibrary.org/obo/HP_0031941	Abnormal portal venous system morphology		
http://purl.obolibrary.org/obo/MONDO_0019891	monosomy 22	http://purl.obolibrary.org/obo/MONDO_0700026	chromosome 22 disorder		
http://purl.obolibrary.org/obo/MONDO_0971043	neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060491	neurodevelopmental disorder with involuntary movements	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060496	neurodevelopmental disorder with hypotonia, neuropathy, and deafness	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060562	encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0060577	neurodevelopmental disorder with microcephaly, ataxia, and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060578	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060596	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060621	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060624	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060640	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060641	neurodevelopmental disorder with or without seizures and gait abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060642	neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060659	neurodevelopmental disorder with poor language and loss of hand skills	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060664	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060704	neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060752	neurodevelopmental disorder with spasticity and poor growth	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0060761	neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0957583	neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0957588	neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0957779	neurodevelopmental disorder with language delay and variable cognitive abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0957791	neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/NCBITaxon_1009842	unclassified Hepeviridae	http://purl.obolibrary.org/obo/NCBITaxon_3079366	Hepeviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3073809	Australaves	http://purl.obolibrary.org/obo/NCBITaxon_3073808	Telluraves		
http://purl.obolibrary.org/obo/NCBITaxon_3073811	Accipitrimorphae	http://purl.obolibrary.org/obo/NCBITaxon_3073808	Telluraves		
http://purl.obolibrary.org/obo/NCBITaxon_3151837	Elliovirales	http://purl.obolibrary.org/obo/NCBITaxon_3151693	Bunyaviricetes		
http://purl.obolibrary.org/obo/CHEBI_22691	barbiturate anion	http://purl.obolibrary.org/obo/CHEBI_22693	barbiturates		
http://purl.obolibrary.org/obo/CHEBI_50334	pyridinium ion	http://purl.obolibrary.org/obo/CHEBI_25697	organic cation		
http://purl.obolibrary.org/obo/CHEBI_48210	cyclopentafurofurochromene	http://purl.obolibrary.org/obo/CHEBI_38164	organic heteropentacyclic compound		
http://purl.obolibrary.org/obo/CHEBI_25810	oxopurine	http://purl.obolibrary.org/obo/CHEBI_26401	purines		
http://purl.obolibrary.org/obo/CHEBI_33743	manganese group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33676	d-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33744	iron group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33676	d-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_23213	choline ester	http://purl.obolibrary.org/obo/CHEBI_35701	ester		
http://purl.obolibrary.org/obo/CHEBI_37326	benzo[g]pteridine-2,4-dione	http://purl.obolibrary.org/obo/CHEBI_38925	benzopteridine		
http://purl.obolibrary.org/obo/CHEBI_33552	sulfonic acid derivative	http://purl.obolibrary.org/obo/CHEBI_33424	sulfur oxoacid derivative		
http://purl.obolibrary.org/obo/CHEBI_33340	zinc group element atom	http://purl.obolibrary.org/obo/CHEBI_33561	d-block element atom		
http://purl.obolibrary.org/obo/CHEBI_33608	hydrogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_33674	s-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33673	zinc group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33676	d-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35296	ortho-fused polycyclic arene	http://purl.obolibrary.org/obo/CHEBI_35427	ortho-fused polycyclic hydrocarbon		
http://purl.obolibrary.org/obo/GO_0120178	steroid hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0006694	steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0120254	olefinic compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0141187	nucleic acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0034654	nucleobase-containing compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0150063	visual system development	http://purl.obolibrary.org/obo/GO_0048880	sensory system development		
http://purl.obolibrary.org/obo/GO_0099143	presynaptic actin cytoskeleton	http://purl.obolibrary.org/obo/GO_0015629	actin cytoskeleton		
http://purl.obolibrary.org/obo/HP_0030239	Hypoplasia of the upper arm musculature	http://purl.obolibrary.org/obo/HP_0009016	Upper limb muscle hypoplasia		
http://purl.obolibrary.org/obo/HP_0430009	Hypoplasia of eyelid	http://purl.obolibrary.org/obo/HP_0011226	Aplasia/Hypoplasia of the eyelid		
http://purl.obolibrary.org/obo/HP_0031247	Whooping cough	http://purl.obolibrary.org/obo/HP_0012735	Cough		
http://purl.obolibrary.org/obo/HP_0012767	Abnormal placental size	http://purl.obolibrary.org/obo/HP_0100767	Abnormal placenta morphology		
http://purl.obolibrary.org/obo/HP_0040007	Absent pigmentation of chest	http://purl.obolibrary.org/obo/HP_0200098	Absent skin pigmentation		
http://purl.obolibrary.org/obo/NCBITaxon_348386	unclassified Lentivirus	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_2946627	Caphthovirinae	http://purl.obolibrary.org/obo/NCBITaxon_12058	Picornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2946630	Ensavirinae	http://purl.obolibrary.org/obo/NCBITaxon_12058	Picornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2946633	Heptrevirinae	http://purl.obolibrary.org/obo/NCBITaxon_12058	Picornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10232	Acanthocephala <thorny-headed worms>	http://purl.obolibrary.org/obo/NCBITaxon_1206795	Lophotrochozoa		
http://purl.obolibrary.org/obo/NCBITaxon_1658400	Hectopsyllidae	http://purl.obolibrary.org/obo/NCBITaxon_129369	Pulicoidea		
http://purl.obolibrary.org/obo/NCBITaxon_137	Spirochaetaceae	http://purl.obolibrary.org/obo/NCBITaxon_136	Spirochaetales		
http://purl.obolibrary.org/obo/NCBITaxon_2993898	Mycobacterium ulcerans group	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_555864	unclassified Bornaviridae	http://purl.obolibrary.org/obo/NCBITaxon_178830	Bornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_196	Campylobacter fetus	http://purl.obolibrary.org/obo/NCBITaxon_194	Campylobacter		
http://purl.obolibrary.org/obo/NCBITaxon_2315720	Trochida	http://purl.obolibrary.org/obo/NCBITaxon_216275	Vetigastropoda		
http://purl.obolibrary.org/obo/NCBITaxon_2611341	Metamonada	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_9944	Tragelaphus	http://purl.obolibrary.org/obo/NCBITaxon_27592	Bovinae		
http://purl.obolibrary.org/obo/NCBITaxon_9918	Bubalus	http://purl.obolibrary.org/obo/NCBITaxon_27592	Bovinae		
http://purl.obolibrary.org/obo/NCBITaxon_87882	Burkholderia cepacia complex	http://purl.obolibrary.org/obo/NCBITaxon_32008	Burkholderia		
http://purl.obolibrary.org/obo/NCBITaxon_33184	Onygenaceae	http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales		
http://purl.obolibrary.org/obo/NCBITaxon_6250	Ascarididae	http://purl.obolibrary.org/obo/NCBITaxon_33256	Ascaridoidea		
http://purl.obolibrary.org/obo/NCBITaxon_1173061	Geotrichum candidum	http://purl.obolibrary.org/obo/NCBITaxon_43987	Geotrichum		
http://purl.obolibrary.org/obo/NCBITaxon_561	Escherichia	http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2662056	Retaria	http://purl.obolibrary.org/obo/NCBITaxon_543769	Rhizaria		
http://purl.obolibrary.org/obo/NCBITaxon_5690	Trypanosoma	http://purl.obolibrary.org/obo/NCBITaxon_5654	Trypanosomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_53466	Mesocestoididae	http://purl.obolibrary.org/obo/NCBITaxon_6201	Cyclophyllidea		
http://purl.obolibrary.org/obo/NCBITaxon_2172821	Multicrustacea	http://purl.obolibrary.org/obo/NCBITaxon_6657	Crustacea		
http://purl.obolibrary.org/obo/NCBITaxon_600346	Portuninae	http://purl.obolibrary.org/obo/NCBITaxon_6757	Portunidae		
http://purl.obolibrary.org/obo/NCBITaxon_426437	Rhipicephalinae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_727	Haemophilus influenzae	http://purl.obolibrary.org/obo/NCBITaxon_724	Haemophilus		
http://purl.obolibrary.org/obo/NCBITaxon_3078114	Neoaves	http://purl.obolibrary.org/obo/NCBITaxon_8825	Neognathae		
http://purl.obolibrary.org/obo/NCBITaxon_466544	Perdicinae	http://purl.obolibrary.org/obo/NCBITaxon_9005	Phasianidae		
http://purl.obolibrary.org/obo/NCBITaxon_9948	Antilopinae	http://purl.obolibrary.org/obo/NCBITaxon_9895	Bovidae		
http://purl.obolibrary.org/obo/NCBITaxon_33550	Hystricomorpha	http://purl.obolibrary.org/obo/NCBITaxon_9989	Rodentia		
http://purl.obolibrary.org/obo/UBERON_0035839	esophagogastric junction submucosa	http://purl.obolibrary.org/obo/UBERON_0000009	submucosa		
http://purl.obolibrary.org/obo/UBERON_0036263	supraglottic part of larynx	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0036068	subglottis	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0035240	posterior wall of oropharynx	http://purl.obolibrary.org/obo/UBERON_0000328	gut wall		
http://purl.obolibrary.org/obo/UBERON_0035286	lateral wall of oropharynx	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0035313	posterior wall of laryngopharynx	http://purl.obolibrary.org/obo/UBERON_0000328	gut wall		
http://purl.obolibrary.org/obo/UBERON_0035383	lateral wall of nasopharynx	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0035401	posterior wall of nasopharynx	http://purl.obolibrary.org/obo/UBERON_0000328	gut wall		
http://purl.obolibrary.org/obo/UBERON_0035838	esophagogastric junction mucosa	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_8410080	red bone marrow of sternum	http://purl.obolibrary.org/obo/UBERON_0000361	red bone marrow		
http://purl.obolibrary.org/obo/UBERON_0035819	abdominopelvic cavity	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0035228	tonsillar fossa	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0035956	epididymal lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0035289	axillary tail of breast	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0035649	nerve of penis	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0035650	nerve of clitoris	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0035435	right suprarenal vein	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0035483	left suprarenal vein	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0035322	right common iliac artery	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0035529	left common iliac artery	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_8480006	mesenteric lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0035608	dura mater lymph vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0035041	deep temporal artery	http://purl.obolibrary.org/obo/UBERON_0001632	temporal artery		
http://purl.obolibrary.org/obo/UBERON_0034986	sacral nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001815	lumbosacral nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0034987	lumbar nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001815	lumbosacral nerve plexus		
http://purl.obolibrary.org/obo/UBERON_8480005	placental artery endothelium	http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue		
http://purl.obolibrary.org/obo/UBERON_8480004	iliac vein endothelium	http://purl.obolibrary.org/obo/UBERON_0001919	endothelium of vein		
http://purl.obolibrary.org/obo/UBERON_0035784	seminal clot	http://purl.obolibrary.org/obo/UBERON_0001968	semen		
http://purl.obolibrary.org/obo/UBERON_0035004	preputial swelling	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_8480003	iliac artery smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002111	artery smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0036186	fibroelastic connective tissue	http://purl.obolibrary.org/obo/UBERON_0011824	fibrous connective tissue		
http://purl.obolibrary.org/obo/UBERON_0035465	endometrial cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_8440015	noradrenergic cell groups	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_4300227	hindlimb bud mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010328	limb bud mesenchyme		
http://purl.obolibrary.org/obo/UBERON_4300226	forelimb bud mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010328	limb bud mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0035109	plantar nerve	http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve		
http://purl.obolibrary.org/obo/UBERON_0035091	extrinsic post-anal tail muscle	http://purl.obolibrary.org/obo/UBERON_0003665	post-anal tail muscle		
http://purl.obolibrary.org/obo/UBERON_0035881	ethmoidomaxillary suture	http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture		
http://purl.obolibrary.org/obo/UBERON_0035884	maxillary-premaxillary suture	http://purl.obolibrary.org/obo/UBERON_2002260	premaxillary-maxillary joint		
http://purl.obolibrary.org/obo/UBERON_0035038	carpal tunnel	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_8480002	thoracic aorta smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004178	aorta smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0035539	esophageal artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_8480000	iliac vein smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004696	venous system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0035495	hilum of lymph node	http://purl.obolibrary.org/obo/UBERON_0004885	hilum		
http://purl.obolibrary.org/obo/UBERON_0035498	gastrophrenic ligament	http://purl.obolibrary.org/obo/UBERON_0008845	nonskeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0006247	iliac pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015054	iliac endochondral element		
http://purl.obolibrary.org/obo/UBERON_0036290	myocardium of anterior wall of left ventricle	http://purl.obolibrary.org/obo/UBERON_0006566	left ventricle myocardium		
http://purl.obolibrary.org/obo/UBERON_0036291	myocardium of anterior wall of right ventricle	http://purl.obolibrary.org/obo/UBERON_0006567	right ventricle myocardium		
http://purl.obolibrary.org/obo/UBERON_0035841	esophagogastric junction muscularis propria	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0036244	secretion of serous membrane	http://purl.obolibrary.org/obo/UBERON_0007779	transudate		
http://purl.obolibrary.org/obo/UBERON_0035505	right inguinal part of abdomen	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0035927	sulcus of parietal lobe	http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain		
http://purl.obolibrary.org/obo/UBERON_0034980	jugular bulb	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0035177	abdominal part of esophagus	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0035216	thoracic part of esophagus	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0035450	cervical part of esophagus	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0035201	gastrocolic ligament	http://purl.obolibrary.org/obo/UBERON_0034696	fold of peritoneum		
http://purl.obolibrary.org/obo/UBERON_0000310	breast	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/HsapDv_0000226	prime adult stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000258	adult stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000261	infant stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000262	newborn stage (0-28 days)	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000264	pediatric stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000265	child stage (1-4 yo)	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000267	middle aged stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000271	juvenile stage (5-14 yo)	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000002	embryonic stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000037	fetal stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0010000	postnatal stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000246	1-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HP_0040307	Male sexual dysfunction	http://purl.obolibrary.org/obo/HP_0012874	Abnormal male reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0040294	Duplicated tongue	http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology		
http://purl.obolibrary.org/obo/HP_0040303	Decreased circulating iron concentration	http://purl.obolibrary.org/obo/HP_0040130	Abnormal circulating iron concentration		
http://purl.obolibrary.org/obo/HP_3000075	Abnormal lingual nerve morphology	http://purl.obolibrary.org/obo/HP_0045010	Abnormal peripheral nerve morphology by anatomical site		
http://purl.obolibrary.org/obo/NCBITaxon_9852	Alces alces	http://purl.obolibrary.org/obo/NCBITaxon_9851	Alces		
http://purl.obolibrary.org/obo/NCBITaxon_451507	Mucoromycotina	http://purl.obolibrary.org/obo/NCBITaxon_1913637	Mucoromycota		
http://purl.obolibrary.org/obo/UBERON_0035471	posterior surface of kidney	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0035480	surface of prostate	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/HP_0040006	Mortality/Aging	http://purl.obolibrary.org/obo/HP_0031797	Clinical course		
http://purl.obolibrary.org/obo/NCBITaxon_28845	Dibothriocephalus dendriticus	http://purl.obolibrary.org/obo/NCBITaxon_2267273	Dibothriocephalus		
http://purl.obolibrary.org/obo/MONDO_0021547	amelogenesis imperfecta type 3B	http://purl.obolibrary.org/obo/MONDO_0968955	hypocalcified amelogenesis imperfecta		
http://purl.obolibrary.org/obo/CHEBI_35313	hexoside	http://purl.obolibrary.org/obo/CHEBI_24400	glycoside		
http://purl.obolibrary.org/obo/NCBITaxon_10035	Mesocricetus	http://purl.obolibrary.org/obo/NCBITaxon_10026	Cricetinae		
http://purl.obolibrary.org/obo/NCBITaxon_10043	Phodopus	http://purl.obolibrary.org/obo/NCBITaxon_10026	Cricetinae		
http://purl.obolibrary.org/obo/SO_0000325	rRNA_large_subunit_primary_transcript	http://purl.obolibrary.org/obo/SO_0000209	rRNA_primary_transcript		
http://purl.obolibrary.org/obo/NCBITaxon_5506	Fusarium	http://purl.obolibrary.org/obo/NCBITaxon_110618	Nectriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_27994	Theileriidae	http://purl.obolibrary.org/obo/NCBITaxon_5863	Piroplasmida		
http://purl.obolibrary.org/obo/NCBITaxon_34502	Troglotrematidae	http://purl.obolibrary.org/obo/NCBITaxon_116925	Troglotremata		
http://purl.obolibrary.org/obo/NCBITaxon_1678	Bifidobacterium	http://purl.obolibrary.org/obo/NCBITaxon_31953	Bifidobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_175121	Passeroidea	http://purl.obolibrary.org/obo/NCBITaxon_9126	Passeriformes		
http://purl.obolibrary.org/obo/NCBITaxon_60461	Agapornis	http://purl.obolibrary.org/obo/NCBITaxon_9224	Psittacidae		
http://purl.obolibrary.org/obo/NCBITaxon_9225	Ara	http://purl.obolibrary.org/obo/NCBITaxon_9224	Psittacidae		
http://purl.obolibrary.org/obo/NCBITaxon_198624	Dermocystida	http://purl.obolibrary.org/obo/NCBITaxon_127916	Ichthyosporea		
http://purl.obolibrary.org/obo/NCBITaxon_52283	Sarcoptes scabiei	http://purl.obolibrary.org/obo/NCBITaxon_52282	Sarcoptes		
http://purl.obolibrary.org/obo/NCBITaxon_642	Aeromonas	http://purl.obolibrary.org/obo/NCBITaxon_84642	Aeromonadaceae		
http://purl.obolibrary.org/obo/NCBITaxon_7900	Acipenseridae	http://purl.obolibrary.org/obo/NCBITaxon_186622	Acipenseroidei		
http://purl.obolibrary.org/obo/NCBITaxon_7991	Characiformes	http://purl.obolibrary.org/obo/NCBITaxon_186628	Characiphysae		
http://purl.obolibrary.org/obo/NCBITaxon_40155	Estrildinae	http://purl.obolibrary.org/obo/NCBITaxon_37611	Estrildidae		
http://purl.obolibrary.org/obo/NCBITaxon_31245	Schistosomatidae	http://purl.obolibrary.org/obo/NCBITaxon_31244	Schistosomatoidea		
http://purl.obolibrary.org/obo/NCBITaxon_48796	Setaria <nematodes>	http://purl.obolibrary.org/obo/NCBITaxon_48791	Setariidae		
http://purl.obolibrary.org/obo/NCBITaxon_9216	Phoenicopterus	http://purl.obolibrary.org/obo/NCBITaxon_9215	Phoenicopteridae		
http://purl.obolibrary.org/obo/NCBITaxon_8789	Dromaius	http://purl.obolibrary.org/obo/NCBITaxon_8788	Dromaiidae		
http://purl.obolibrary.org/obo/NCBITaxon_583	Proteus <enterobacteria>	http://purl.obolibrary.org/obo/NCBITaxon_1903414	Morganellaceae		
http://purl.obolibrary.org/obo/NCIT_C12917	Malignant Cell	http://purl.obolibrary.org/obo/NCIT_C12922	Neoplastic Cell		
http://purl.obolibrary.org/obo/MONDO_0060554	vertebral, cardiac, renal, and limb defects syndrome 1	http://purl.obolibrary.org/obo/MONDO_0020831	congenital vertebral-cardiac-renal anomalies syndrome		
http://purl.obolibrary.org/obo/MONDO_0060555	vertebral, cardiac, renal, and limb defects syndrome 2	http://purl.obolibrary.org/obo/MONDO_0020831	congenital vertebral-cardiac-renal anomalies syndrome		
http://purl.obolibrary.org/obo/NCBITaxon_468	Moraxellaceae	http://purl.obolibrary.org/obo/NCBITaxon_2887326	Moraxellales		
http://purl.obolibrary.org/obo/MONDO_0019918	maternal uniparental disomy of chromosome 21	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0019916	maternal uniparental disomy of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0019919	maternal uniparental disomy of chromosome 22	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0019935	isochromosome Y	http://purl.obolibrary.org/obo/MONDO_0700028	chromosome Y disorder		
http://purl.obolibrary.org/obo/NCBITaxon_5739	Hexamitidae	http://purl.obolibrary.org/obo/NCBITaxon_5738	Diplomonadida		
http://purl.obolibrary.org/obo/PATO_0001292	full-spectrum EM radiation quality	http://purl.obolibrary.org/obo/PATO_0070060	quality of interaction of a substance with electromagnetic radiation		
http://purl.obolibrary.org/obo/PATO_0001300	optical quality	http://purl.obolibrary.org/obo/PATO_0070060	quality of interaction of a substance with electromagnetic radiation		
http://purl.obolibrary.org/obo/MONDO_0981004	sickle cell S-Lepore disease	http://purl.obolibrary.org/obo/MONDO_0979354	sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant		
http://purl.obolibrary.org/obo/MONDO_0981005	sickle cell S-O Arab disease	http://purl.obolibrary.org/obo/MONDO_0979354	sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant		
http://purl.obolibrary.org/obo/MONDO_0981007	early-onset idiopathic chronic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0979357	idiopathic chronic pancreatitis		
http://purl.obolibrary.org/obo/MONDO_0981008	late-onset idiopathic chronic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0979357	idiopathic chronic pancreatitis		
http://purl.obolibrary.org/obo/MONDO_0980986	scoliosis, isolated, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0980764	scoliosis, isolated, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0008419	scoliosis, isolated, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0980764	scoliosis, isolated, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0041996	thallium poisoning	http://purl.obolibrary.org/obo/MONDO_0023305	heavy metal poisoning		
http://purl.obolibrary.org/obo/MONDO_0981024	neurodegenerative disorder with cerebellar and caudate atrophy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0957985	neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0024245	ductal eccrine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024240	eccrine carcinoma		
http://purl.obolibrary.org/obo/MONDO_0024250	acute lichenoid pityriasis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0007963	melanoma, cutaneous malignant, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma		
http://purl.obolibrary.org/obo/MONDO_0008468	spondyloarthropathy, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0024512	spondyloarthropathy, susceptibility to		
http://purl.obolibrary.org/obo/NCBITaxon_4827	Mucorales	http://purl.obolibrary.org/obo/NCBITaxon_2212703	Mucoromycetes		
http://purl.obolibrary.org/obo/MONDO_0008953	peroxisome biogenesis disorder 1A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100259	peroxisome biogenesis disorder due to PEX1 defect		
http://purl.obolibrary.org/obo/MONDO_0008736	peroxisome biogenesis disorder 2B	http://purl.obolibrary.org/obo/MONDO_0100262	peroxisome biogenesis disorder due to PEX5 defect		
http://purl.obolibrary.org/obo/MONDO_0008954	peroxisome biogenesis disorder 2A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100262	peroxisome biogenesis disorder due to PEX5 defect		
http://purl.obolibrary.org/obo/MONDO_0007829	cholestasis, intrahepatic, of pregnancy, 1	http://purl.obolibrary.org/obo/MONDO_0017290	familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0980990	neurodevelopmental disorder with parkinsonism or other movement abnormalities	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0054549	peroxisome biogenesis disorder 10B	http://purl.obolibrary.org/obo/MONDO_0100261	peroxisome biogenesis disorder due to PEX3 defect		
http://purl.obolibrary.org/obo/MONDO_0958183	Leber-like hereditary optic neuropathy, autosomal recessive 1	http://purl.obolibrary.org/obo/MONDO_0030309	Leber hereditary optic neuropathy, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0958197	Leber-like hereditary optic neuropathy, autosomal recessive 2	http://purl.obolibrary.org/obo/MONDO_0030309	Leber hereditary optic neuropathy, autosomal recessive		
http://purl.obolibrary.org/obo/NCBITaxon_10798	Human parvovirus B19	http://purl.obolibrary.org/obo/NCBITaxon_3052189	Erythroparvovirus primate1		
http://purl.obolibrary.org/obo/NCBITaxon_213115	Desulfovibrionales	http://purl.obolibrary.org/obo/NCBITaxon_3031449	Desulfovibrionia		
http://purl.obolibrary.org/obo/MONDO_0958186	hematuria, benign familial, 2	http://purl.obolibrary.org/obo/MONDO_0957317	hematuria, benign familial		
http://purl.obolibrary.org/obo/MONDO_0007589	exudative vitreoretinopathy 1	http://purl.obolibrary.org/obo/MONDO_1040041	FZD4-related exudative vitreoretinopathy		
http://purl.obolibrary.org/obo/GO_0140013	meiotic nuclear division	http://purl.obolibrary.org/obo/GO_1903046	meiotic cell cycle process		
http://purl.obolibrary.org/obo/GO_0062125	regulation of mitochondrial gene expression	http://purl.obolibrary.org/obo/GO_0010468	regulation of gene expression		
http://purl.obolibrary.org/obo/GO_0120054	intestinal motility	http://purl.obolibrary.org/obo/GO_0022600	digestive system process		
http://purl.obolibrary.org/obo/NCBITaxon_1402491	Pseudomonas aeruginosa CF5	http://purl.obolibrary.org/obo/NCBITaxon_287	Pseudomonas aeruginosa		
http://purl.obolibrary.org/obo/ENVO_01001886	landform	http://purl.obolibrary.org/obo/ENVO_00000191	solid astronomical body part		
http://purl.obolibrary.org/obo/ENVO_03000143	cryosphere	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/SO_0002300	unit_of_gene_expression	http://purl.obolibrary.org/obo/SO_0001411	biological_region		
http://purl.obolibrary.org/obo/SO_0001645	genetic_marker	http://purl.obolibrary.org/obo/SO_0001411	biological_region		
http://purl.obolibrary.org/obo/NCBITaxon_574145	Demodex brevis	http://purl.obolibrary.org/obo/NCBITaxon_188544	Demodex		
http://purl.obolibrary.org/obo/NCBITaxon_3110	Prototheca	http://purl.obolibrary.org/obo/NCBITaxon_35461	Chlorellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_54181	Trachypithecus obscurus	http://purl.obolibrary.org/obo/NCBITaxon_54136	Trachypithecus		
http://purl.obolibrary.org/obo/NCBITaxon_2072716	Spiruromorpha	http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina		
http://purl.obolibrary.org/obo/NCBITaxon_577468	Micrococcales incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_85006	Micrococcales		
http://purl.obolibrary.org/obo/NCBITaxon_9738	Tursiops	http://purl.obolibrary.org/obo/NCBITaxon_9726	Delphinidae		
http://purl.obolibrary.org/obo/NCBITaxon_2702	Gardnerella vaginalis	http://purl.obolibrary.org/obo/NCBITaxon_2701	Gardnerella		
http://purl.obolibrary.org/obo/NCBITaxon_28844	Diphyllobothrium	http://purl.obolibrary.org/obo/NCBITaxon_28843	Diphyllobothriidae		
http://purl.obolibrary.org/obo/NCBITaxon_5988	Litostomatea	http://purl.obolibrary.org/obo/NCBITaxon_431838	Intramacronucleata		
http://purl.obolibrary.org/obo/NCBITaxon_51026	Oxyuridae	http://purl.obolibrary.org/obo/NCBITaxon_51025	Oxyuroidea		
http://purl.obolibrary.org/obo/NCBITaxon_286	Pseudomonas	http://purl.obolibrary.org/obo/NCBITaxon_135621	Pseudomonadaceae		
http://purl.obolibrary.org/obo/NCBITaxon_641	Vibrionaceae	http://purl.obolibrary.org/obo/NCBITaxon_135623	Vibrionales		
http://purl.obolibrary.org/obo/NCBITaxon_35460	Chlorellales	http://purl.obolibrary.org/obo/NCBITaxon_75966	Trebouxiophyceae		
http://purl.obolibrary.org/obo/NCBITaxon_1350	Enterococcus	http://purl.obolibrary.org/obo/NCBITaxon_81852	Enterococcaceae		
http://purl.obolibrary.org/obo/NCBITaxon_9696	Puma concolor	http://purl.obolibrary.org/obo/NCBITaxon_146712	Puma		
http://purl.obolibrary.org/obo/NCBITaxon_1648030	Triticinae	http://purl.obolibrary.org/obo/NCBITaxon_147389	Triticeae		
http://purl.obolibrary.org/obo/NCBITaxon_5037	Histoplasma capsulatum	http://purl.obolibrary.org/obo/NCBITaxon_5036	Histoplasma		
http://purl.obolibrary.org/obo/NCBITaxon_29171	Dictyocaulus	http://purl.obolibrary.org/obo/NCBITaxon_55271	Metastrongylidae		
http://purl.obolibrary.org/obo/NCBITaxon_6296	Onchocercidae	http://purl.obolibrary.org/obo/NCBITaxon_6295	Filarioidea		
http://purl.obolibrary.org/obo/NCBITaxon_9860	Cervus elaphus	http://purl.obolibrary.org/obo/NCBITaxon_9859	Cervus		
http://purl.obolibrary.org/obo/NCBITaxon_5763	Naegleria fowleri	http://purl.obolibrary.org/obo/NCBITaxon_5761	Naegleria		
http://purl.obolibrary.org/obo/NCBITaxon_5721	Trichomonas	http://purl.obolibrary.org/obo/NCBITaxon_181550	Trichomonadidae		
http://purl.obolibrary.org/obo/NCBITaxon_27479	Reduviidae	http://purl.obolibrary.org/obo/NCBITaxon_33356	Reduvioidea		
http://purl.obolibrary.org/obo/NCBITaxon_29064	Panthera uncia	http://purl.obolibrary.org/obo/NCBITaxon_9688	Panthera		
http://purl.obolibrary.org/obo/NCBITaxon_5806	Cryptosporidium	http://purl.obolibrary.org/obo/NCBITaxon_35082	Cryptosporidiidae		
http://purl.obolibrary.org/obo/NCBITaxon_43755	Oestroidea	http://purl.obolibrary.org/obo/NCBITaxon_43742	Calyptratae		
http://purl.obolibrary.org/obo/NCBITaxon_46684	Ascaridia	http://purl.obolibrary.org/obo/NCBITaxon_46683	Ascaridiidae		
http://purl.obolibrary.org/obo/NCBITaxon_1264859	Entomophthoromycotina	http://purl.obolibrary.org/obo/NCBITaxon_1913638	Zoopagomycota		
http://purl.obolibrary.org/obo/MONDO_0041526	pregnancy disorder with abortive outcome	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/PATO_0000044	frequency	http://purl.obolibrary.org/obo/PATO_0050000	rate of occurence		
http://purl.obolibrary.org/obo/NCBITaxon_33084	Entamoebidae	http://purl.obolibrary.org/obo/NCBITaxon_2682482	Mastigamoebida		
http://purl.obolibrary.org/obo/PATO_0002094	basophilic	http://purl.obolibrary.org/obo/PATO_0070045	anatomical histological quality		
http://purl.obolibrary.org/obo/PATO_0002418	acidophilic	http://purl.obolibrary.org/obo/PATO_0070045	anatomical histological quality		
http://purl.obolibrary.org/obo/PATO_0002291	agenesis	http://purl.obolibrary.org/obo/PATO_0040060	absence of anatomical entity		
http://purl.obolibrary.org/obo/MONDO_0000608	familial juvenile hyperuricemic nephropathy	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0008187	panic disorder 1	http://purl.obolibrary.org/obo/MONDO_0031240	familial panic disorder		
http://purl.obolibrary.org/obo/NCBITaxon_11673	Feline immunodeficiency virus	http://purl.obolibrary.org/obo/NCBITaxon_3418649	Lentivirus felimdef		
http://purl.obolibrary.org/obo/NCBITaxon_11723	Simian immunodeficiency virus	http://purl.obolibrary.org/obo/NCBITaxon_3418654	Lentivirus simimdef		
http://purl.obolibrary.org/obo/NCBITaxon_2169971	Visna-maedi virus	http://purl.obolibrary.org/obo/NCBITaxon_3418652	Lentivirus ovivismae		
http://purl.obolibrary.org/obo/GO_0140056	organelle localization by membrane tethering	http://purl.obolibrary.org/obo/GO_0051640	organelle localization		
http://purl.obolibrary.org/obo/GO_0140112	extracellular vesicle biogenesis	http://purl.obolibrary.org/obo/GO_0044085	cellular component biogenesis		
http://identifiers.org/hgnc/23088	SLC10A7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14291	NLGN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28727	APOO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7458	MT-ND3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10009	RHD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10019	RIPK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10021	RIPK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10061	RNF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10074	RNH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10152	RNU2-2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10193	RNU4-2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10212	RNU5B-1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10249	ROBO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10258	RORA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10259	RORB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10289	RPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10303	RPL13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10307	RPL17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10351	RPL3L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10410	RPS23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10439	RPS6KC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10445	CNOT9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10451	RRM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10485	RYR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10537	SARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10541	SATB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10590	SCN3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10663	NEMF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10717	SEL1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10719	SELENBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1073	BMP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10739	SEMA6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10760	SET	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10769	SF3B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10780	SRSF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10781	TRA2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1082	BNIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10852	SHMT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10857	SIAH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10866	ST3GAL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10905	SLC10A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10911	SLC12A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10935	SLC18A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10937	SLC19A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10981	SLC25A11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11016	SLC31A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11018	SLC32A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11029	SLC4A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11041	SLC5A6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1105	BRDT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11052	SLC6A6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1108	ZFP36L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11104	SMARCC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11105	SMARCC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11106	SMARCD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11107	SMARCD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11137	SNAPC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11182	CAPN15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11184	SORD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11200	SOX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11241	SPI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11254	SPOP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11275	SPTBN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11289	SREBF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11300	SRP19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11301	SRP54	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11307	SRPRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11317	SSBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11344	ST14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11355	STAG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11368	STAT6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11402	SRPK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11438	STX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11459	SULT2B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11465	SUPT16H	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1148	BUB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11480	SVIL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11490	SYCP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11491	SYK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11537	TAF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11546	TAF13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11572	TARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11585	TBL1X	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11590	TBR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11597	TBX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11616	TCEAL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1162	FRA10AC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11631	TCF20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1165	DAGLA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11655	TCP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1172	VPS51	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11737	TEX14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11738	TEX15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1176	MRPL49	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11805	TIAM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11809	TIE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1181	MYRF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1184	FERRY3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11842	TLK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11868	TRAPPC10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11877	TMPRSS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11891	CLEC3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11924	TNFRSF9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11927	TNFSF12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11928	TNFSF13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11939	TNFSF9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11944	TNNC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11953	TNR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11968	CNPY3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11990	TOP2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11992	TOP3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12003	TP73	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12013	TPM4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12016	TPP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1226	GIPC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12299	TRHR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12306	TRIP12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12307	TRIP13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12347	TRRAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12348	TRU-TCA1-1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12422	TUFT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12425	TULP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1243	C1QBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12441	TYMS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12461	UBAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12499	UBE4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12511	UBTF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12525	UGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12527	UGP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12585	UQCRC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12587	UQCRFS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12590	UQCRH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/126	ACR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12616	USP18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12624	USP25	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12630	USP7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12643	VAMP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12651	VARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12713	VPS41	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12729	WARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12730	WARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12732	WASF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12738	WBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12739	WBP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12754	WDR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12756	WDR4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12757	WDR5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12760	BRWD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12781	WNT2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12810	XIST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12852	YWHAG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12855	YWHAZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12856	YY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12869	ZFX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12927	ZNF142	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12929	PCGF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12989	ZMYM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12997	ZSCAN10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13054	ZMYM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13081	SCAPER	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13177	IKZF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13178	IKZF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13188	ZP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13189	ZP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1329	SLC30A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13299	LGR4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13308	GPRC5B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13315	HDAC8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1337	KDM3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13420	PRUNE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13449	SLITRK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13485	USP26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13488	VPS4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13506	FEZF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13520	MESD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1354	C8G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13540	ATP9A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13552	ATP11A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13575	BRD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13590	FBXO11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13593	FBXO22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13599	FBXL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13607	FBXW11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1361	AOPEP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13610	KDM2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13635	PLVAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13655	SCUBE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13664	MACF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13709	DEGS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13726	KMT2C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13760	CYFIP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13764	RELT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13811	SLC4A10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13862	BTG4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13869	LOXL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13907	ATOH7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1392	CACNA1E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13921	ABHD16A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1396	CACNA1I	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1399	CACNA2D1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13998	PRDM13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1400	CACNA2D2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14006	TRPV6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14010	MGA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14027	MRPL39	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14049	MRPS14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14063	HDAC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14078	BACH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14106	POLD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14121	POLR3K	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14135	PIGQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14188	AVIL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14214	CIC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14245	SNUPN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14280	CIAO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14282	IRF2BPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14283	IKZF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14288	NTNG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14293	TEKT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14313	IFT81	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14347	BCAS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14353	DNALI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14406	PTPN23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14415	ELOVL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14418	ELOVL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14423	RDH8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14430	SLC13A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14438	CATSPERT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14495	MRPS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/145	ACTG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14530	SP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14543	WNK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14552	IKBKE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14562	BET1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14568	STK33	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14584	VPS16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1460	CAMK2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1461	CAMK2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14615	PAPPA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1462	CAMK2D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1463	CAMK2G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14632	ADAMTSL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14686	JAM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1481	CAPNS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14886	DNAJB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14896	SPTBN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14927	TSGA10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1493	CARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14937	PIGS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14957	PUM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14967	SPACA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1503	CASP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1539	CBFB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1542	CBLB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15456	MBTPS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15461	MANF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15472	ALDH1A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1551	CBX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15579	TRIM8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15590	ARHGEF15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15594	DBR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15631	TLR7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15632	TLR8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15662	ZPBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15663	UGGT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15673	PHIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1568	CCIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15717	GEMIN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15719	OBSCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15734	KIRREL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15736	HID1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15751	NAPB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15762	CRNKL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15765	MOCS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15772	ARFGEF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15791	PIGU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15797	PABPC1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15802	GATA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15805	GCNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15822	OXR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15859	TASP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15872	CFAP61	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15908	NAA20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1591	CCNF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15910	NFS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15939	WFDC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1596	CCNK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15975	SASH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15992	ZNF341	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15998	NAV3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/160	ACTL6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16007	TRIM63	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1603	CCR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16031	RNF31	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16050	MED12L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16053	CFAP52	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16067	MYOCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/161	ACTL7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16110	DDRGK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16135	FITM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16148	CRLS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1616	CCT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16197	TP53RK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16235	DNAJC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16305	ADAMTS15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16352	MRM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16384	TRIM28	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16410	DNAJC30	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16421	SOX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16461	WBP11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16489	ATG4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16491	PIDD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16493	ZMIZ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16519	RAB34	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16618	MRPS34	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16639	SRRM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16712	FBXW7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16716	DHX30	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16740	ZBTB11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16787	EDEM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16803	UBE3C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16806	UBR5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16816	CHD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16831	TSPOAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16850	CTR9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16859	NOS1AP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16872	SLC35B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16918	SYNCRIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16920	CIB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16935	ATG7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16951	IVNS1ABP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16979	CFHR4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16993	SEC61B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17028	SNF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17057	CARD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17085	EXOC6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17087	ICOSLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17090	ARHGEF18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17097	EXOSC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17101	SUZ12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17103	TNPO3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17111	ADAMTS19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17123	SLC9A7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17145	SNAPIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17156	LY96	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17210	DHX37	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17211	DHX38	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17229	CFAP45	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1723	CDC20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17258	AGTPBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17271	RRAS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17283	RIMS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17290	IL27RA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17300	TAF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1733	CDK13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17359	NUP54	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17364	DBF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17367	IFT57	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1738	CDC42BPB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17380	ANAPC7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17474	ESAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17485	PPP2R3C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1750	CDH11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17550	KREMEN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17556	MED16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17574	ALPK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17575	SPEN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1759	CDH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17597	NCDN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17601	CADM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17635	CD274	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17637	PERP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17641	DCLRE1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17648	POPDC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17649	POPDC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17663	PITRM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17686	RIC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17693	DHRS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1770	CDK10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17722	SPRED2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17728	PMFBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17735	TMEM63B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17754	THSD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17770	RALGAPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1779	CDK8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17800	FARSB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17811	AMOTL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17814	SLF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17825	PLAAT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17859	NUP188	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17896	PRPF19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17933	KAT8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17939	SLC45A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17976	RPL10L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17985	ROBO4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17992	TRPM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18005	GIMAP5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18008	NXN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18010	GDAP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18016	NUP133	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18028	OSGEP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18037	ARID2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18039	KDM5B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18043	MCM10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18044	SLC38A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18063	STARD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18078	ZBTB7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18143	DAAM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18149	A4GALT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18188	TMCO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18270	HHAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18345	TENT5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18410	ZNF292	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18416	FICD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18437	HAVCR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1850	CELSR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18531	LRRC7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18533	USP48	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18541	KMT2E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18561	BLOC1S5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1859	CEP250	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18592	NEK10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18599	TUBGCP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18608	LRRK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18619	COG3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18648	DPP9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18661	DNAH7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18666	RNPC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18697	ASCC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18711	LGI3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18712	LGI4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18756	RHOBTB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18786	FAM50A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18798	SLC44A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18838	PPP1R13L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18855	CREB3L3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18856	CREB3L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18866	KCNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18867	KCNU1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18869	GGN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18874	LAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19034	MAST1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19036	MAST3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19088	ASH1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1913	RCC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19138	LRRC23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1918	CHD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19182	SASH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1925	CHEK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19274	TTC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19286	SCYL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19304	SCAF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19306	SLC30A7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19338	CDK19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19347	CUX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1937	CHKA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19383	SOCS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19405	PGBD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1957	CHRNA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19684	WEE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19685	SEPHS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19701	CNKSR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19708	LDHD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19711	DISP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19829	FAM177A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19849	C14orf39	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19880	EMILIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1989	TBCB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19902	RRAGC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19903	RRAGD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19904	ZNF407	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19918	MYORG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19943	TRAPPC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19946	CAMSAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19958	PRORP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19959	TOGARAM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19988	ANAPC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19998	TNPO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20039	CAP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20043	GEMIN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20074	PAN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20091	AK7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/201	ADAM22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20122	TDRD9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20152	ZFHX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20185	TMEM260	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2021	CLCN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20213	COX16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20218	LYSET	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20226	KIF26A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2024	CLCN6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20266	ALG5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20286	TRIT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20313	PKHD1L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20344	UBR7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20356	GON7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20361	SPTSSA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20390	SQOR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20454	POLR1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20456	TRAF7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20465	SMC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20470	LSM7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20472	LSM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2051	CLDN9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20566	SV2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20597	UFM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20609	AIMP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20637	DPYSL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20652	TXNDC15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20662	SLC25A24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20718	OTUD7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20730	ARMC9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20758	ZFYVE19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20759	RBSN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20768	TUBA1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20771	TUBB4B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20774	TUBB4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20789	ATG4D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20844	GPR156	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2088	CLPX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20898	PGM2L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20908	DZIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20917	ALPK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2092	CLTC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20932	POLD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20967	NACC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20973	ADGRL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20990	PHACTR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21015	FILIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21020	QRSL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21066	TBC1D7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21099	ARMC12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21173	LTV1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21185	PNLDC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21205	LINGO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21208	WDR26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21269	NLRP5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21290	PTCRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21296	EPS8L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21355	MLIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21485	TBC1D32	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21495	KIF12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21537	SYCP2L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21610	LNPK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21625	ANO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21638	CEP85L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21648	TOMM7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21675	FSIP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21684	ZNF462	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21839	KPNA7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21876	RINT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21882	IFT56	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/219	ADAMTS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21904	NCAPG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21918	GIMAP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22208	NUDCD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22219	KIAA1549	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2231	COPB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2232	COPB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2236	COPG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22407	TMEM106B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2243	COPZ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22474	MED13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/226	ADARB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2261	COX11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2265	COX4I1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2267	COX5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2279	COX6A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2294	COX8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22948	NLRP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23017	FAM20B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23019	ZRSR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2303	CPE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23045	ARMC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23066	TRAPPC6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23136	SCNM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23145	MAFA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23150	UNC13A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23156	U2AF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23194	THAP11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23214	EXOC7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2324	CPSF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2326	CPSF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23302	HKDC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23336	A2ML1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23339	ACBD6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23352	PIBF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23357	MCTS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23377	FOCAD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23386	MYCBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23483	DOCK11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23529	NSUN6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23575	ANKRD17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23595	VPS13D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23625	RUSC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23656	TIMM50	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23694	GPR161	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23697	PHLDB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23700	TTC12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23724	ARHGAP19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2377	MED27	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23787	TMEM63C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23792	PLD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23794	PACS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23807	THUMPD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23994	ERI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24010	CFAP91	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24063	GALM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24071	TUBA3D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24102	ARSG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24113	ATP13A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24124	ACTL6A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24128	TM2D3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24152	RSRC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24156	PHF21A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24259	TPRKB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24270	DPH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24281	OTUD6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24283	KMT5B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24284	TRAPPC12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24290	CSGALNACT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24305	NCAPD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2435	CSF2RA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24496	RMP64	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24552	TKFC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24555	INTS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2460	CSNK2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24609	CELA2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24613	NRROS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24614	EEFSEC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24641	VPS35L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24662	EXOSC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24713	QRICH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24715	TBC1D8B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24717	PTCD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24731	NHLRC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24750	ZNF699	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24824	FZR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24856	CCDC47	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24877	YIPF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24931	ZC4H2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24948	DOT1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24959	GSX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24968	EXOC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24990	COA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2500	CCN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25006	METTL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25056	KLHL20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25062	CATIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25065	REC114	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25068	GATC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25072	WDR45B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25075	LRRC8C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25079	CCDC34	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25094	MTSS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2510	CTNNA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25123	PKDCC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25126	NAF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25183	M1AP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25187	TAMM41	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25189	ALKBH8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25228	SGSM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25239	ARSK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25247	CFAP46	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25287	LMBRD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25295	TLCD3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/253	ADH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25305	NSRP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25321	SHARPIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25325	CFAP65	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25326	QRICH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25363	TMEM222	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25380	TMEM163	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25394	SAMD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25402	OTUD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25416	ATXN7L3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25430	LRRC56	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2550	CELF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25525	NDC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25536	DALRD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25543	SHQ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25544	MSL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25551	SMG8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25552	RNF220	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25554	SLC25A36	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2557	CUX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25590	OGDHL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25599	INAVA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25622	TBC1D23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25631	CFAP44	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25657	BCORL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25678	CLXN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25686	PPCS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2571	CYB561	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25777	RFX7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25789	EFL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25790	FASTKD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25807	SLC7A6OS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2582	CYLC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25821	ZNF668	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25835	THSD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25851	GINS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25875	NAA60	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25903	ATAD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25956	VPS50	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25973	GON4L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25979	MIEF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25980	TRMT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26033	PUS7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26047	CT55	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26052	INTS11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26053	THG1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26058	LAGE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26087	HEATR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26107	CFAP69	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26171	FAAP100	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26178	FHOD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26185	CCDC134	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26186	TMEM53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26197	TOP6BL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26208	NSUN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26223	TEFM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26255	C3orf52	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26256	NDNF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26293	SPEF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26321	ASPRV1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2637	CYP3A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26383	DAW1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26456	CFAP54	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26485	CFAP57	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26517	KICS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26520	KASH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26532	DNHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26535	SHOC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26611	HECTD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26620	SPAG17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26675	TERB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26676	CFAP58	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26684	CFAP43	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26708	CFAP47	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2673	DAP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26730	CIROZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://purl.obolibrary.org/obo/MONDO_0022202	disseminated	http://purl.obolibrary.org/obo/MONDO_0045040	locational disease characteristic		
http://purl.obolibrary.org/obo/MONDO_0045042	restricted to specific location	http://purl.obolibrary.org/obo/MONDO_0045040	locational disease characteristic		
http://purl.obolibrary.org/obo/MONDO_0016187	qualitative or quantitative defects of desmin	http://purl.obolibrary.org/obo/MONDO_0016186	neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins		
http://purl.obolibrary.org/obo/MONDO_0016195	neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0060663	congenital heart defects, multiple types, 5	http://purl.obolibrary.org/obo/MONDO_0100541	GATA5-related congenital heart defects		
http://purl.obolibrary.org/obo/NCBITaxon_9398	Pteropodidae	http://purl.obolibrary.org/obo/NCBITaxon_3136023	Pteropodoidea		
http://purl.obolibrary.org/obo/MONDO_0060707	Ververi-Brady syndrome 1	http://purl.obolibrary.org/obo/MONDO_0979877	Ververi-Brady syndrome		
http://purl.obolibrary.org/obo/MONDO_0060760	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0060486	arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	http://purl.obolibrary.org/obo/MONDO_0700428	hypomyelination neuropathy-arthrogryposis syndrome		
http://purl.obolibrary.org/obo/HP_0012865	Abnormal sperm head morphology	http://purl.obolibrary.org/obo/HP_0012864	Abnormal sperm morphology		
http://purl.obolibrary.org/obo/HP_0040253	Increased size of the clitoris	http://purl.obolibrary.org/obo/HP_0040252	Abnormal size of the clitoris		
http://purl.obolibrary.org/obo/NBO_0000755	reproductive behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000243	behavioral phenotype		
http://purl.obolibrary.org/obo/NBO_0000765	learning and/or memory behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000266	cognitive behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000539	eating behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000270	feeding behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000160	sleep duration	http://purl.obolibrary.org/obo/NBO_0000419	sleeping behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000474	circadian behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000473	rhythmic behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000133	liquid preference/aversion	http://purl.obolibrary.org/obo/NBO_0000540	drinking behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000851	increased amount of liquid in a single drinking act	http://purl.obolibrary.org/obo/NBO_0000540	drinking behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000886	increased amount of liquid in drinking regulation	http://purl.obolibrary.org/obo/NBO_0000540	drinking behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000120	physical aggression behavior	http://purl.obolibrary.org/obo/NBO_0000741	aggressive behavior by means		
http://purl.obolibrary.org/obo/MONDO_0045034	infectious disease characteristic	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		
http://purl.obolibrary.org/obo/MONDO_0021141	acquired	http://purl.obolibrary.org/obo/MONDO_0021139	congenital or acquired		
http://purl.obolibrary.org/obo/NCBITaxon_9655	Mustelidae	http://purl.obolibrary.org/obo/NCBITaxon_3072906	Musteloidea		
http://purl.obolibrary.org/obo/NCBITaxon_9647	Procyonidae	http://purl.obolibrary.org/obo/NCBITaxon_3072906	Musteloidea		
http://purl.obolibrary.org/obo/NCBITaxon_119825	Mephitidae	http://purl.obolibrary.org/obo/NCBITaxon_3072906	Musteloidea		
http://purl.obolibrary.org/obo/NCBITaxon_186804	Peptostreptococcaceae	http://purl.obolibrary.org/obo/NCBITaxon_3082720	Peptostreptococcales		
http://purl.obolibrary.org/obo/UBERON_0035815	paracardial fat	http://purl.obolibrary.org/obo/UBERON_0035814	pericardial fat		
http://purl.obolibrary.org/obo/NCBITaxon_10046	Meriones	http://purl.obolibrary.org/obo/NCBITaxon_10045	Gerbillinae		
http://purl.obolibrary.org/obo/UBERON_0034948	carbon dioxide in respiratory system	http://purl.obolibrary.org/obo/UBERON_0034947	gas in respiratory system		
http://purl.obolibrary.org/obo/HP_0030126	Abnormal endometrium morphology	http://purl.obolibrary.org/obo/HP_0031105	Abnormal uterus morphology		
http://purl.obolibrary.org/obo/ENVO_01000752	area of barren land	http://purl.obolibrary.org/obo/ENVO_01001199	terrestrial environmental zone		
http://purl.obolibrary.org/obo/MONDO_0001802	acute tympanitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0001203	prolapse of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0024625	disorder of lacrimal gland		
http://purl.obolibrary.org/obo/MONDO_0060690	phenytoin toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0957824	optic atrophy 14	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0957935	optic atrophy 15	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0957978	optic atrophy 16	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0001769	acquired tear duct stenosis	http://purl.obolibrary.org/obo/MONDO_0044984	nasolacrimal duct disorder		
http://purl.obolibrary.org/obo/MONDO_0009306	combined immunodeficiency with skin granulomas	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		
http://purl.obolibrary.org/obo/NCIT_C94299	Receptor Status	http://purl.obolibrary.org/obo/NCIT_C36292	Laboratory Test Result		
http://purl.obolibrary.org/obo/NCIT_C25218	Clinical Intervention or Procedure	http://purl.obolibrary.org/obo/NCIT_C16203	Clinical or Research Activity		
http://purl.obolibrary.org/obo/NCIT_C15330	Digestive System Surgery	http://purl.obolibrary.org/obo/NCIT_C49163	Surgical Procedure by Site or System		
http://purl.obolibrary.org/obo/MONDO_0054577	bleeding disorder, platelet-type, 21	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		
http://purl.obolibrary.org/obo/MONDO_0957580	bleeding disorder, platelet-type, 25	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		
http://purl.obolibrary.org/obo/MONDO_0957993	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6	http://purl.obolibrary.org/obo/MONDO_0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions		
http://purl.obolibrary.org/obo/MONDO_0054736	mosaic variegated aneuploidy syndrome 3	http://purl.obolibrary.org/obo/MONDO_0000141	mosaic variegated aneuploidy syndrome		
http://purl.obolibrary.org/obo/MONDO_0957595	Ziegler-Huang syndrome	http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome		
http://purl.obolibrary.org/obo/UBERON_0036288	anterior wall of left ventricle	http://purl.obolibrary.org/obo/UBERON_0036285	wall of left ventricle		
http://purl.obolibrary.org/obo/UBERON_0036289	anterior wall of right ventricle	http://purl.obolibrary.org/obo/UBERON_0036286	wall of right ventricle		
http://purl.obolibrary.org/obo/MONDO_0019949	zebra body myopathy	http://purl.obolibrary.org/obo/MONDO_0100084	alpha-actinopathy		
http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A	http://purl.obolibrary.org/obo/MONDO_0020927	postaxial polydactyly		
http://purl.obolibrary.org/obo/MONDO_0008355	pyloric stenosis, infantile hypertrophic, 1	http://purl.obolibrary.org/obo/MONDO_0100239	inherited hypertrophic pyloric stenosis		
http://purl.obolibrary.org/obo/MONDO_0018795	syndromic constitutional thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0020117	alpha granule disease	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0800451	congenital amegakaryocytic thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0957572	thrombocytopenia 9	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0957578	thrombocytopenia 10	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0958000	thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0008000	migraine with or without aura, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/NCBITaxon_157	Treponema	http://purl.obolibrary.org/obo/NCBITaxon_2845253	Treponemataceae		
http://purl.obolibrary.org/obo/NCBITaxon_2995234	Mycoplasmoides	http://purl.obolibrary.org/obo/NCBITaxon_2790998	Mycoplasmoidaceae		
http://purl.obolibrary.org/obo/MONDO_0957870	leukoencephalopathy with vanishing white matter 2	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		
http://purl.obolibrary.org/obo/MONDO_0957871	leukoencephalopathy with vanishing white matter 3	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		
http://purl.obolibrary.org/obo/MONDO_0957872	leukoencephalopathy with vanishing white matter 4	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		
http://purl.obolibrary.org/obo/MONDO_0957873	leukoencephalopathy with vanishing white matter 5	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		
http://purl.obolibrary.org/obo/MONDO_0958196	epilepsy, early-onset, 3, with or without developmental delay	http://purl.obolibrary.org/obo/MONDO_0957599	epilepsy, early-onset		
http://purl.obolibrary.org/obo/MONDO_0060629	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_1060123	GRIN1-related complex neurodevelopmental disorder		
http://purl.obolibrary.org/obo/NCBITaxon_1489910	Cichlomorphae	http://purl.obolibrary.org/obo/NCBITaxon_1489908	Ovalentaria		
http://purl.obolibrary.org/obo/NCBITaxon_28738	Cyprinodontiformes	http://purl.obolibrary.org/obo/NCBITaxon_1489913	Atherinomorphae		
http://purl.obolibrary.org/obo/NCBITaxon_41011	Tineoidea	http://purl.obolibrary.org/obo/NCBITaxon_37567	Ditrysia		
http://purl.obolibrary.org/obo/NCBITaxon_9632	Ursidae	http://purl.obolibrary.org/obo/NCBITaxon_379584	Caniformia		
http://purl.obolibrary.org/obo/NCBITaxon_38624	Phascolarctidae	http://purl.obolibrary.org/obo/NCBITaxon_38609	Diprotodontia		
http://purl.obolibrary.org/obo/NCBITaxon_6179	Digenea <flatworms>	http://purl.obolibrary.org/obo/NCBITaxon_6178	Trematoda		
http://purl.obolibrary.org/obo/NCBITaxon_6300	Tylenchina	http://purl.obolibrary.org/obo/NCBITaxon_6236	Rhabditida		
http://purl.obolibrary.org/obo/NCBITaxon_2301116	Rhabditina	http://purl.obolibrary.org/obo/NCBITaxon_6236	Rhabditida		
http://purl.obolibrary.org/obo/NCBITaxon_2649300	unclassified Macropus	http://purl.obolibrary.org/obo/NCBITaxon_9312	Macropus		
http://purl.obolibrary.org/obo/NCBITaxon_30559	Yinpterochiroptera	http://purl.obolibrary.org/obo/NCBITaxon_9397	Chiroptera		
http://purl.obolibrary.org/obo/NCBITaxon_9625	Vulpes	http://purl.obolibrary.org/obo/NCBITaxon_9608	Canidae		
http://purl.obolibrary.org/obo/NCBITaxon_9612	Canis lupus	http://purl.obolibrary.org/obo/NCBITaxon_9611	Canis		
http://purl.obolibrary.org/obo/NCBITaxon_338153	Pantherinae	http://purl.obolibrary.org/obo/NCBITaxon_9681	Felidae		
http://purl.obolibrary.org/obo/NCBITaxon_9780	Elephantidae	http://purl.obolibrary.org/obo/NCBITaxon_9779	Proboscidea <placentals>		
http://purl.obolibrary.org/obo/NCBITaxon_34877	Muntiacinae	http://purl.obolibrary.org/obo/NCBITaxon_9850	Cervidae		
http://purl.obolibrary.org/obo/NCBITaxon_34878	Cervinae	http://purl.obolibrary.org/obo/NCBITaxon_9850	Cervidae		
http://purl.obolibrary.org/obo/NCBITaxon_9881	Odocoileinae	http://purl.obolibrary.org/obo/NCBITaxon_9850	Cervidae		
http://purl.obolibrary.org/obo/UBERON_0035431	mediastinal pleura	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0035298	tuberculum sellae	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0035416	diaphragma sellae	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/HP_0040287	Axial muscle atrophy	http://purl.obolibrary.org/obo/HP_0040286	Abnormal axial muscle morphology		
http://purl.obolibrary.org/obo/HP_0031396	Abnormal naive T cell proportion	http://purl.obolibrary.org/obo/HP_0025540	Abnormal T cell subset distribution		
http://purl.obolibrary.org/obo/MONDO_0019983	multiloculated renal cyst	http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm		
http://purl.obolibrary.org/obo/MAXO_0000647	chemotherapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		
http://purl.obolibrary.org/obo/MONDO_0008072	IgA nephropathy, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100555	IgA nephropathy, susceptibility to		
http://purl.obolibrary.org/obo/NCBITaxon_200940	Thermodesulfobacteriota	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_7993	Astyanax	http://purl.obolibrary.org/obo/NCBITaxon_3391113	Acestrorhamphinae		
http://purl.obolibrary.org/obo/MONDO_0958018	leukodystrophy, hypomyelinating, 27	http://purl.obolibrary.org/obo/MONDO_0100605	POLR-related leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0001667	streptobacillus infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		
http://purl.obolibrary.org/obo/MONDO_0021673	post-bacterial disorder	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		
http://purl.obolibrary.org/obo/MONDO_0024338	mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		
http://purl.obolibrary.org/obo/HP_0040008	Aplasia of facial bones	http://purl.obolibrary.org/obo/HP_0034261	Aplasia/Hypoplasia of facial bones		
http://purl.obolibrary.org/obo/MONDO_0060702	spondyloepimetaphyseal dysplasia, di rocco type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0958006	spondyloepimetaphyseal dysplasia, Guo-Campeau type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0019232	inborn disorder of peptide metabolism	http://purl.obolibrary.org/obo/MONDO_0100473	disorder of peptide and amine metabolism		
http://purl.obolibrary.org/obo/MONDO_0007939	malignant hyperthermia, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0800188	malignant hyperthermia, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0007940	malignant hyperthermia, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0800188	malignant hyperthermia, susceptibility to		
http://purl.obolibrary.org/obo/NCBITaxon_8100	Cottioidei	http://purl.obolibrary.org/obo/NCBITaxon_8111	Perciformes		
http://purl.obolibrary.org/obo/MONDO_0021025	cirrhosis, familial, with antigenemia	http://purl.obolibrary.org/obo/MONDO_0007329	cirrhosis, familial		
http://purl.obolibrary.org/obo/MONDO_0008770	amelogenesis imperfecta type 1C	http://purl.obolibrary.org/obo/MONDO_0015047	amelogenesis imperfecta type 1		
http://purl.obolibrary.org/obo/MONDO_0007458	digitotalar dysmorphism; ulnar drift, hereditary	http://purl.obolibrary.org/obo/MONDO_0015240	digitotalar dysmorphism		
http://purl.obolibrary.org/obo/MONDO_0007845	Kaposi sarcoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0007966	susceptibility to uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0008067	nasopharyngeal carcinoma, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0044702	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0020768	X-linked deafness		
http://purl.obolibrary.org/obo/MONDO_0001923	vitreoretinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0001924	dystrophies primarily involving the retinal pigment epithelium	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0001925	retinal dystrophy in systemic or cerebroretinal lipidoses	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0016382	hereditary poikiloderma	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		
http://purl.obolibrary.org/obo/MONDO_0020475	dermotrichic syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0008534	generalized essential telangiectasia	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		
http://purl.obolibrary.org/obo/MONDO_0009229	hyaline fibromatosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		
http://purl.obolibrary.org/obo/MONDO_0019845	iatrogenic or traumatic pituitary deficiency	http://purl.obolibrary.org/obo/MONDO_0019832	acquired pituitary hormone deficiency		
http://purl.obolibrary.org/obo/MONDO_0957822	premature ovarian failure 22	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0958035	premature ovarian failure 23	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0020363	honey-droplet corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0019811	tricuspid valve agenesis	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		
http://purl.obolibrary.org/obo/MONDO_0019813	congenital tricuspid stenosis	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		
http://purl.obolibrary.org/obo/MONDO_0021574	oocyte maturation defect 3	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0021575	oocyte maturation defect 4	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0957961	oocyte/zygote/embryo maturation arrest 21	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0060758	spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	http://purl.obolibrary.org/obo/MONDO_0014776	spinocerebellar ataxia type 42		
http://purl.obolibrary.org/obo/MONDO_0044647	kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0014922	myofibrillar myopathy 7		
http://purl.obolibrary.org/obo/MONDO_0020421	coronary artery intramyocardial course	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		
http://purl.obolibrary.org/obo/MONDO_0020423	stenosis or atrophy of the coronary ostium	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		
http://purl.obolibrary.org/obo/MONDO_0020425	abnormal number of coronary ostia	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		
http://purl.obolibrary.org/obo/MONDO_0044629	congenital amyoplasia	http://purl.obolibrary.org/obo/MONDO_0015225	arthrogryposis syndrome		
http://purl.obolibrary.org/obo/MONDO_0020390	pulmonary artery coming from patent ductus arteriosus	http://purl.obolibrary.org/obo/MONDO_0015239	abnormal origin of the pulmonary artery		
http://purl.obolibrary.org/obo/MONDO_0020429	cor triatriatum dexter	http://purl.obolibrary.org/obo/MONDO_0015450	triatrial heart		
http://purl.obolibrary.org/obo/MONDO_0020409	univentricular heart with single atrio-ventricular valve	http://purl.obolibrary.org/obo/MONDO_0015451	univentricular heart		
http://purl.obolibrary.org/obo/MONDO_0000476	generalized dystonia	http://purl.obolibrary.org/obo/MONDO_0015494	isolated dystonia		
http://purl.obolibrary.org/obo/MONDO_0975902	isolated congenital cholesteatoma of the middle ear	http://purl.obolibrary.org/obo/MONDO_0015604	middle ear anomaly		
http://purl.obolibrary.org/obo/MONDO_0044709	cochleovestibular dysplasia	http://purl.obolibrary.org/obo/MONDO_0015604	middle ear anomaly		
http://purl.obolibrary.org/obo/MONDO_0016555	transient congenital hypothyroidism due to maternal factor	http://purl.obolibrary.org/obo/MONDO_0015792	transient congenital hypothyroidism		
http://purl.obolibrary.org/obo/MONDO_0024861	mixed teratoma and seminoma	http://purl.obolibrary.org/obo/MONDO_0015864	mixed germ cell tumor		
http://purl.obolibrary.org/obo/MONDO_0957783	ichthyosis with erythrokeratoderma	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0010779	mitochondrial non-syndromic sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0019691	short rib dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0019694	spondylodysplastic dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0044675	LRP5-related primary osteoporosis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0008540	extensor tendons of finger anomalies	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0015830	partial bilateral aplasia of the mullerian ducts	http://purl.obolibrary.org/obo/MONDO_0019128	mullerian aplasia		
http://purl.obolibrary.org/obo/MONDO_0957008	hereditary cerebral malformation	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0020134	cystic malformation of the posterior fossa	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0020389	pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome	http://purl.obolibrary.org/obo/MONDO_0020064	pulmonary valve agenesis		
http://purl.obolibrary.org/obo/MONDO_0019821	aneurysm or dilatation of ascending aorta	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		
http://purl.obolibrary.org/obo/MONDO_0020419	pulmonary artery hypoplasia	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		
http://purl.obolibrary.org/obo/MONDO_0008081	neurofibromatosis, type IV, of Riccardi	http://purl.obolibrary.org/obo/MONDO_0021061	neurofibromatosis		
http://purl.obolibrary.org/obo/MONDO_0044880	cystic tumor of the pancreas	http://purl.obolibrary.org/obo/MONDO_0021076	pancreatic exocrine neoplasm		
http://purl.obolibrary.org/obo/MONDO_0957920	immunodeficiency 113 with autoimmunity and autoinflammation	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0957981	immunodeficiency 115 with autoinflammation	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0958011	immunodeficiency 117	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0958030	immunodeficiency 118	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0021632	primary brain neoplasm	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		
http://purl.obolibrary.org/obo/MONDO_0025353	developmental and epileptic encephalopathy, 90	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0957780	developmental and epileptic encephalopathy 111	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0957812	developmental and epileptic encephalopathy 112	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/NCBITaxon_2038	Tropheryma	http://purl.obolibrary.org/obo/NCBITaxon_2805591	Tropherymataceae		
http://purl.obolibrary.org/obo/NCBITaxon_27716	Tinca	http://purl.obolibrary.org/obo/NCBITaxon_2743744	Tincidae		
http://purl.obolibrary.org/obo/NCBITaxon_2946186	Sedoreoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732541	Reovirales		
http://purl.obolibrary.org/obo/NCBITaxon_2946187	Spinareoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732541	Reovirales		
http://purl.obolibrary.org/obo/HP_0020067	Pathological inclusion body by anatomical location	http://purl.obolibrary.org/obo/HP_6001025	Pathological inclusion body		
http://purl.obolibrary.org/obo/ENVO_01003010	convective transport process	http://purl.obolibrary.org/obo/ENVO_03000010	material transport process		
http://purl.obolibrary.org/obo/ENVO_01003013	material diffusion process	http://purl.obolibrary.org/obo/ENVO_03000010	material transport process		
http://purl.obolibrary.org/obo/NCBITaxon_85708	Porcine circovirus 2	http://purl.obolibrary.org/obo/NCBITaxon_3048279	Circovirus porcine2		
http://purl.obolibrary.org/obo/MONDO_0000208	microcephaly, short stature, and impaired glucose metabolism 1	http://purl.obolibrary.org/obo/MONDO_0800450	microcephaly, short stature, and impaired glucose metabolism		
http://purl.obolibrary.org/obo/MONDO_0002547	nerve sheath neoplasm	http://purl.obolibrary.org/obo/MONDO_0021042	glioma		A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.
http://purl.obolibrary.org/obo/MONDO_0002548	cellular schwannoma	http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma		A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.
http://purl.obolibrary.org/obo/MONDO_0002549	schwannoma of twelfth cranial nerve	http://purl.obolibrary.org/obo/MONDO_0002550	hypoglossal nerve neoplasm		A schwannoma that involves the hypoglossal nerve.
http://purl.obolibrary.org/obo/MONDO_0002550	hypoglossal nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002633	cranial nerve neoplasm		A neoplasm involving a hypoglossal nerve.
http://purl.obolibrary.org/obo/MONDO_0002553	cerebellopontine angle tumor	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.
http://purl.obolibrary.org/obo/MONDO_0002554	sympathetic neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma		A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.
http://purl.obolibrary.org/obo/MONDO_0002555	trigeminal schwannoma	http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma		A schwannoma that involves the trigeminal nerve.
http://purl.obolibrary.org/obo/MONDO_0002556	microcystic/reticular schwannoma	http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma		The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.
http://purl.obolibrary.org/obo/MONDO_0002558	melanotic neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma		A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.
http://purl.obolibrary.org/obo/MONDO_0002559	plexiform schwannoma	http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma		A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.
http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
http://purl.obolibrary.org/obo/MONDO_0002562	demyelinating disease	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.
http://purl.obolibrary.org/obo/MONDO_0002563	jejunal somatostatinoma	http://purl.obolibrary.org/obo/MONDO_0015064	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade		A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures.
http://purl.obolibrary.org/obo/MONDO_0002564	jejunal neoplasm	http://purl.obolibrary.org/obo/MONDO_0004251	small intestine neoplasm		A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0002565	myelitis	http://purl.obolibrary.org/obo/MONDO_0005156	encephalomyelitis		An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence.
http://purl.obolibrary.org/obo/MONDO_0002567	tracheal disorder	http://purl.obolibrary.org/obo/MONDO_0004867	upper respiratory tract disorder		A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0002568	tracheal stenosis	http://purl.obolibrary.org/obo/MONDO_0002567	tracheal disorder		Narrowing of the lumen of the trachea.
http://purl.obolibrary.org/obo/MONDO_0002569	gastric dilatation	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.
http://purl.obolibrary.org/obo/MONDO_0002570	high pressure neurological syndrome	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.
http://purl.obolibrary.org/obo/MONDO_0002571	primary central nervous system lymphoma	http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma		A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.
http://purl.obolibrary.org/obo/MONDO_0002572	aspiration pneumonitis	http://purl.obolibrary.org/obo/MONDO_0043905	pneumonitis		Inflammation of the lungs due to the inhalation of solid or liquid material.
http://purl.obolibrary.org/obo/MONDO_0002574	prostate embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0009993	embryonal rhabdomyosarcoma		A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features.
http://purl.obolibrary.org/obo/MONDO_0002576	embryonal extrahepatic bile duct rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0009993	embryonal rhabdomyosarcoma		An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0002577	extrahepatic bile duct rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0024658	extrahepatic bile duct sarcoma		A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0002578	botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0009993	embryonal rhabdomyosarcoma		A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0002579	orbit embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0009993	embryonal rhabdomyosarcoma		A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.
http://purl.obolibrary.org/obo/MONDO_0002580	orbit rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.
http://purl.obolibrary.org/obo/MONDO_0002581	spindle cell rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.
http://purl.obolibrary.org/obo/MONDO_0002582	subacute leukemia	http://purl.obolibrary.org/obo/MONDO_0010643	acute leukemia		A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.
http://purl.obolibrary.org/obo/MONDO_0002583	mucinous ovarian cystadenoma	http://purl.obolibrary.org/obo/MONDO_0006859	mucinous cystadenoma		A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0002585	breast fibrocystic change, proliferative type	http://purl.obolibrary.org/obo/MONDO_0005219	breast fibrocystic disease		Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.
http://purl.obolibrary.org/obo/MONDO_0002586	thymus cancer	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0002587	encapsulated thymoma	http://purl.obolibrary.org/obo/MONDO_0006456	thymoma		A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.
http://purl.obolibrary.org/obo/MONDO_0002588	thymoma type A	http://purl.obolibrary.org/obo/MONDO_0006456	thymoma		A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.
http://purl.obolibrary.org/obo/MONDO_0002592	invasive malignant thymoma	http://purl.obolibrary.org/obo/MONDO_0040677	invasive carcinoma		A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues.
http://purl.obolibrary.org/obo/MONDO_0002594	monkeypox	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.
http://purl.obolibrary.org/obo/MONDO_0002595	vaccinia	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.
http://purl.obolibrary.org/obo/MONDO_0002597	notochordal tumor	http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm		A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.
http://purl.obolibrary.org/obo/MONDO_0002598	germinoma	http://purl.obolibrary.org/obo/MONDO_0006290	malignant germ cell tumor		A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0002599	teratocarcinoma	http://purl.obolibrary.org/obo/MONDO_0015864	mixed germ cell tumor		A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.
http://purl.obolibrary.org/obo/MONDO_0002601	teratoma	http://purl.obolibrary.org/obo/MONDO_0021656	nongerminomatous germ cell tumor		A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.
http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A disease involving the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0002603	angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0006359	neoplasm with perivascular epithelioid cell differentiation		A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.
http://purl.obolibrary.org/obo/MONDO_0002604	pericytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002616	mesenchymal cell neoplasm		A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.
http://purl.obolibrary.org/obo/MONDO_0002605	hepatic angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		An angiomyolipoma arising from the liver.
http://purl.obolibrary.org/obo/MONDO_0002606	epithelioid type angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0002603	angiomyolipoma		An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.
http://purl.obolibrary.org/obo/MONDO_0002610	purpura	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
http://purl.obolibrary.org/obo/MONDO_0002612	frontal lobe epilepsy	http://purl.obolibrary.org/obo/MONDO_0005384	focal epilepsy		A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)
http://purl.obolibrary.org/obo/MONDO_0002613	histrionic personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	personality disorder		A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.
http://purl.obolibrary.org/obo/MONDO_0002614	bone inflammation disease	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		Inflammation of the bone.
http://purl.obolibrary.org/obo/MONDO_0002615	xanthomatosis	http://purl.obolibrary.org/obo/MONDO_0019245	lysosomal lipid storage disorder		A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.
http://purl.obolibrary.org/obo/MONDO_0002616	mesenchymal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002617	bone angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0024499	vascular bone neoplasm		A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.
http://purl.obolibrary.org/obo/MONDO_0002618	undifferentiated high grade pleomorphic sarcoma of bone	http://purl.obolibrary.org/obo/MONDO_0021054	bone sarcoma		A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.
http://purl.obolibrary.org/obo/MONDO_0002619	bone fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
http://purl.obolibrary.org/obo/MONDO_0002620	localized osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0009807	osteosarcoma		A non-disseminated osteosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002621	extraosseous osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		An osteosarcoma arising from the soft tissue.
http://purl.obolibrary.org/obo/MONDO_0002622	multifocal osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0009807	osteosarcoma		A primary bone osteosarcoma affecting multiple bone sites.
http://purl.obolibrary.org/obo/MONDO_0002623	pediatric osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0009807	osteosarcoma		An osteosarcoma occurring in childhood.
http://purl.obolibrary.org/obo/MONDO_0002624	bone leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0002625	Ewing sarcoma of bone	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.
http://purl.obolibrary.org/obo/MONDO_0002626	spinal accessory nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002636	accessory nerve disorder		A neoplasm involving a accessory XI nerve spinal component.
http://purl.obolibrary.org/obo/MONDO_0002627	chondroblastic osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002631	conventional osteosarcoma		An osteosarcoma characterized by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.
http://purl.obolibrary.org/obo/MONDO_0002628	peripheral osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002629	bone osteosarcoma		A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.
http://purl.obolibrary.org/obo/MONDO_0002629	bone osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0009807	osteosarcoma		A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.
http://purl.obolibrary.org/obo/MONDO_0002630	small cell osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0006974	small cell sarcoma		An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.
http://purl.obolibrary.org/obo/MONDO_0002631	conventional osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002629	bone osteosarcoma		A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.
http://purl.obolibrary.org/obo/MONDO_0002632	metachronous osteosarcoma of the bone	http://purl.obolibrary.org/obo/MONDO_0002629	bone osteosarcoma		A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.
http://purl.obolibrary.org/obo/MONDO_0002633	cranial nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		Abnormal growth of the cells that comprise the cranial nerves.
http://purl.obolibrary.org/obo/MONDO_0002634	liposarcoma of bone	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A very rare malignant adipose tissue neoplasm that arises from the bone.
http://purl.obolibrary.org/obo/MONDO_0002635	periodontal disorder	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.
http://purl.obolibrary.org/obo/MONDO_0002636	accessory nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the accessory XI nerve.
http://purl.obolibrary.org/obo/MONDO_0002637	histiocytosis	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.
http://purl.obolibrary.org/obo/MONDO_0002638	glossopharyngeal nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002639	glossopharyngeal nerve disorder		A neoplasm involving a glossopharyngeal nerve.
http://purl.obolibrary.org/obo/MONDO_0002639	glossopharyngeal nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the glossopharyngeal nerve.
http://purl.obolibrary.org/obo/MONDO_0002640	optic nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0006130	central nervous system neoplasm		Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.
http://purl.obolibrary.org/obo/MONDO_0002641	subclavian artery aneurysm	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.
http://purl.obolibrary.org/obo/MONDO_0002642	trochlear nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0007002	trochlear nerve disorder		A neoplasm involving a trochlear nerve.
http://purl.obolibrary.org/obo/MONDO_0002643	vestibular disorder	http://purl.obolibrary.org/obo/MONDO_0024417	perceptual disorders		Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.
http://purl.obolibrary.org/obo/MONDO_0002645	cerebritis	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Inflammation of the cerebrum.
http://purl.obolibrary.org/obo/MONDO_0002646	viral laryngitis	http://purl.obolibrary.org/obo/MONDO_0024352	viral respiratory tract infection		Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.
http://purl.obolibrary.org/obo/MONDO_0002647	laryngitis	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.
http://purl.obolibrary.org/obo/MONDO_0002648	mammary Paget disease	http://purl.obolibrary.org/obo/MONDO_0021165	Paget disease		A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.
http://purl.obolibrary.org/obo/MONDO_0002649	scrotum Paget disease	http://purl.obolibrary.org/obo/MONDO_0021165	Paget disease		A mammary Paget's disease that involves the scrotum.
http://purl.obolibrary.org/obo/MONDO_0002650	scrotal carcinoma	http://purl.obolibrary.org/obo/MONDO_0021112	scrotum cancer		A carcinoma that arises from epithelial cells of the scrotum.
http://purl.obolibrary.org/obo/MONDO_0002651	anal Paget disease	http://purl.obolibrary.org/obo/MONDO_0002652	anus adenocarcinoma		A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).
http://purl.obolibrary.org/obo/MONDO_0002652	anus adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003199	anal carcinoma		An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.
http://purl.obolibrary.org/obo/MONDO_0002653	Paget disease of the penis	http://purl.obolibrary.org/obo/MONDO_0006360	penile carcinoma		A premalignant condition morphologically characterized by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003
http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002655	cutaneous Paget disease	http://purl.obolibrary.org/obo/MONDO_0021165	Paget disease		A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.
http://purl.obolibrary.org/obo/MONDO_0002656	skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0021634	epithelial skin neoplasm		A carcinoma that arises from epithelial cells of the zone of skin
http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the breast.
http://purl.obolibrary.org/obo/MONDO_0002658	iris cancer	http://purl.obolibrary.org/obo/MONDO_0021224	iris neoplasm		A malignant neoplasm involving the iris.
http://purl.obolibrary.org/obo/MONDO_0002659	uveal cancer	http://purl.obolibrary.org/obo/MONDO_0021225	uvea neoplasm		A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.
http://purl.obolibrary.org/obo/MONDO_0002660	blepharochalasis	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.
http://purl.obolibrary.org/obo/MONDO_0002661	uveal disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.
http://purl.obolibrary.org/obo/MONDO_0002664	extrahepatic bile duct signet ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005092	signet ring cell carcinoma		An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0002665	extrahepatic bile duct adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003193	bile duct adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct
http://purl.obolibrary.org/obo/MONDO_0002666	pancreatic signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005184	pancreatic ductal adenocarcinoma		A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.
http://purl.obolibrary.org/obo/MONDO_0002667	gallbladder signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006215	gallbladder adenocarcinoma		An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0002669	ampullary signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002670	ampulla of vater adenocarcinoma		An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.
http://purl.obolibrary.org/obo/MONDO_0002670	ampulla of vater adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0017590	carcinoma of the ampulla of vater		A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla
http://purl.obolibrary.org/obo/MONDO_0002671	signet ring cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.
http://purl.obolibrary.org/obo/MONDO_0002672	acinar prostate adenocarcinoma, signet ring variant	http://purl.obolibrary.org/obo/MONDO_0005092	signet ring cell carcinoma		A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells.
http://purl.obolibrary.org/obo/MONDO_0002675	neurofibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0016755	neurofibroma		A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)
http://purl.obolibrary.org/obo/MONDO_0002676	adult fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0002677	conventional fibrosarcoma		A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.
http://purl.obolibrary.org/obo/MONDO_0002677	conventional fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0002678	pediatric fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
http://purl.obolibrary.org/obo/MONDO_0002679	cerebral infarction	http://purl.obolibrary.org/obo/MONDO_1060198	ischemic stroke		An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.
http://purl.obolibrary.org/obo/MONDO_0002680	chronic wasting disease	http://purl.obolibrary.org/obo/MONDO_0700108	prion disease, non-human animal		A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions).
http://purl.obolibrary.org/obo/MONDO_0002681	choroid plexus cancer	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A malignant neoplasm involving the choroid plexus
http://purl.obolibrary.org/obo/MONDO_0002682	cerebral ventricle cancer	http://purl.obolibrary.org/obo/MONDO_0001657	brain cancer		A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.
http://purl.obolibrary.org/obo/MONDO_0002683	adult choroid plexus neoplasm	http://purl.obolibrary.org/obo/MONDO_0016717	choroid plexus neoplasm		A choroid plexus neoplasm that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0002684	atypical choroid plexus papilloma	http://purl.obolibrary.org/obo/MONDO_0016717	choroid plexus neoplasm		A choroid plexus papilloma characterized by increased mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0002685	childhood choroid plexus carcinoma	http://purl.obolibrary.org/obo/MONDO_0024744	childhood choroid plexus neoplasm		A choroid plexus carcinoma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0002687	superior mesenteric artery syndrome	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.
http://purl.obolibrary.org/obo/MONDO_0002688	duodenal obstruction	http://purl.obolibrary.org/obo/MONDO_0004565	intestinal obstruction		Blockage of the normal flow of stomach contents through the duodenum.
http://purl.obolibrary.org/obo/MONDO_0002691	liver cancer	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0002692	intracranial sinus thrombosis	http://purl.obolibrary.org/obo/MONDO_0002907	intracranial thrombosis		Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.
http://purl.obolibrary.org/obo/MONDO_0002693	lateral sinus thrombosis	http://purl.obolibrary.org/obo/MONDO_0002692	intracranial sinus thrombosis		Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.
http://purl.obolibrary.org/obo/MONDO_0002694	cavernous sinus thrombosis	http://purl.obolibrary.org/obo/MONDO_0002692	intracranial sinus thrombosis		Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)
http://purl.obolibrary.org/obo/MONDO_0002695	sagittal sinus thrombosis	http://purl.obolibrary.org/obo/MONDO_0002692	intracranial sinus thrombosis		Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.
http://purl.obolibrary.org/obo/MONDO_0002696	Sertoli cell tumor	http://purl.obolibrary.org/obo/MONDO_0006055	sex cord-stromal tumor		A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.
http://purl.obolibrary.org/obo/MONDO_0002697	ovarian gonadoblastoma	http://purl.obolibrary.org/obo/MONDO_0018172	malignant sex cord stromal tumor of ovary		A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0002698	testicular gonadoblastoma	http://purl.obolibrary.org/obo/MONDO_0010768	gonadoblastoma		A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.
http://purl.obolibrary.org/obo/MONDO_0002701	ovarian mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005858	mucinous cystadenocarcinoma		An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0002702	ovarian cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005596	cystadenocarcinoma		An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002703	appendix mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018330	mucinous adenocarcinoma of the appendix		An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.
http://purl.obolibrary.org/obo/MONDO_0002705	breast mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005858	mucinous cystadenocarcinoma		An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified.
http://purl.obolibrary.org/obo/MONDO_0002706	cervix endometriosis	http://purl.obolibrary.org/obo/MONDO_0005133	endometriosis		Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.
http://purl.obolibrary.org/obo/MONDO_0002707	breast mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	mucinous adenocarcinoma		An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.
http://purl.obolibrary.org/obo/MONDO_0002708	retinitis	http://purl.obolibrary.org/obo/MONDO_0006918	posterior uveitis		Inflammation of the retina.
http://purl.obolibrary.org/obo/MONDO_0002710	infiltrating angiolipoma	http://purl.obolibrary.org/obo/MONDO_0006085	angiolipoma		An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.
http://purl.obolibrary.org/obo/MONDO_0002712	epidural spinal canal angiolipoma	http://purl.obolibrary.org/obo/MONDO_0006085	angiolipoma		An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.
http://purl.obolibrary.org/obo/MONDO_0002713	epidural spinal canal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0002714	central nervous system cancer	http://purl.obolibrary.org/obo/MONDO_0006130	central nervous system neoplasm		A malignant neoplasm involving the central nervous system
http://purl.obolibrary.org/obo/MONDO_0002715	uterine cancer	http://purl.obolibrary.org/obo/MONDO_0021353	tumor of uterus		Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.
http://purl.obolibrary.org/obo/MONDO_0002716	childhood spinal cord tumor	http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm		A benign or malignant neoplasm affecting the spinal cord during childhood.
http://purl.obolibrary.org/obo/MONDO_0002718	central nervous system teratoma	http://purl.obolibrary.org/obo/MONDO_0020574	central nervous system nongerminomatous germ cell tumor		A mature or immature teratoma that affects the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0002719	conus medullaris neoplasm	http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm		A neoplasm (disease) that involves the conus medullaris.
http://purl.obolibrary.org/obo/MONDO_0002720	sella turcica neoplasm	http://purl.obolibrary.org/obo/MONDO_0002785	skull base neoplasm		A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.
http://purl.obolibrary.org/obo/MONDO_0002721	necrosis of pituitary	http://purl.obolibrary.org/obo/MONDO_0003381	pituitary gland disorder		Ischemic or hemorrhagic necrosis of the pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0002722	olfactory nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.
http://purl.obolibrary.org/obo/MONDO_0002724	mast cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005170	myeloid neoplasm		A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0002726	cutaneous solitary mastocytoma	http://purl.obolibrary.org/obo/MONDO_0019314	cutaneous mastocytoma		A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.
http://purl.obolibrary.org/obo/MONDO_0002727	olfactory nerve disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disease involving the olfactory nerve.
http://purl.obolibrary.org/obo/MONDO_0002728	rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0002729	rhabdoid tumor of the kidney	http://purl.obolibrary.org/obo/MONDO_0002930	kidney sarcoma		A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0002730	childhood kidney neoplasm	http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm		A kidney neoplasm that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0002731	cerebral hemisphere cancer	http://purl.obolibrary.org/obo/MONDO_0021374	neoplasm of cerebral hemisphere		A cancer that involves the cerebral hemisphere.
http://purl.obolibrary.org/obo/MONDO_0002732	lung benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.
http://purl.obolibrary.org/obo/MONDO_0002734	anal mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002748	rectum mucinous adenocarcinoma		An anal adenocarcinoma characterized by the presence of mucoid stroma formation.
http://purl.obolibrary.org/obo/MONDO_0002735	anal canal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0007108	anal canal carcinoma		An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.
http://purl.obolibrary.org/obo/MONDO_0002736	ampulla of vater mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002739	extrahepatic bile duct mucinous adenocarcinoma		A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation.
http://purl.obolibrary.org/obo/MONDO_0002737	acute sanguinous otitis media	http://purl.obolibrary.org/obo/MONDO_0002738	acute transudative otitis media		A acute transudative otitis media which involves bloody effusion.
http://purl.obolibrary.org/obo/MONDO_0002738	acute transudative otitis media	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of non-suppurative otitis media.
http://purl.obolibrary.org/obo/MONDO_0002739	extrahepatic bile duct mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	mucinous adenocarcinoma		An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.
http://purl.obolibrary.org/obo/MONDO_0002740	uterine ligament mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002742	cervical mucinous adenocarcinoma		A rare mucinous adenocarcinoma that arises from the uterine ligament.
http://purl.obolibrary.org/obo/MONDO_0002741	uterine ligament adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005153	cervical adenocarcinoma		A rare adenocarcinoma that arises from the uterine ligament.
http://purl.obolibrary.org/obo/MONDO_0002742	cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005153	cervical adenocarcinoma		A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin.
http://purl.obolibrary.org/obo/MONDO_0002744	fallopian tube mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	mucinous adenocarcinoma		An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.
http://purl.obolibrary.org/obo/MONDO_0002745	fallopian tube mucinous tumor	http://purl.obolibrary.org/obo/MONDO_0021092	fallopian tube neoplasm		A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.
http://purl.obolibrary.org/obo/MONDO_0002746	fallopian tube adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006206	fallopian tube carcinoma		A carcinoma that arises from glandular epithelial cells of the fallopian tube
http://purl.obolibrary.org/obo/MONDO_0002747	endometrial mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005461	endometrium adenocarcinoma		A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.
http://purl.obolibrary.org/obo/MONDO_0002748	rectum mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	mucinous adenocarcinoma		An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.
http://purl.obolibrary.org/obo/MONDO_0002749	extracranial neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005072	neuroblastoma		A neuroblastoma arising from an anatomic site other than the brain.
http://purl.obolibrary.org/obo/MONDO_0002751	bladder adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004986	urinary bladder carcinoma		A carcinoma that arises from glandular epithelial cells of the urinary bladder
http://purl.obolibrary.org/obo/MONDO_0002752	ovarian adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005140	ovarian carcinoma		An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002754	extramedullary plasmacytoma	http://purl.obolibrary.org/obo/MONDO_0005615	plasmacytoma		A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.
http://purl.obolibrary.org/obo/MONDO_0002755	solitary osseous plasmacytoma	http://purl.obolibrary.org/obo/MONDO_0005615	plasmacytoma		A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.
http://purl.obolibrary.org/obo/MONDO_0002756	solitary plasmacytoma of chest wall	http://purl.obolibrary.org/obo/MONDO_0005615	plasmacytoma		A solitary plasmacytoma that arises from the chest wall.
http://purl.obolibrary.org/obo/MONDO_0002757	acute allergic sanguinous otitis media	http://purl.obolibrary.org/obo/MONDO_0002737	acute sanguinous otitis media		A acute sanguinous otitis media caused by an allergen.
http://purl.obolibrary.org/obo/MONDO_0002758	vulva verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border.
http://purl.obolibrary.org/obo/MONDO_0002759	bladder verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A verrucous carcinoma that involves the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0002760	bladder squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.
http://purl.obolibrary.org/obo/MONDO_0002761	cervical verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0016285	papillary carcinoma of the cervix uteri		A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.
http://purl.obolibrary.org/obo/MONDO_0002762	esophagus verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)
http://purl.obolibrary.org/obo/MONDO_0002763	urethral verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A verrucous carcinoma that involves the urethra.
http://purl.obolibrary.org/obo/MONDO_0002764	urethra squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021327	carcinoma of urethra		A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.
http://purl.obolibrary.org/obo/MONDO_0002765	plantar verrucous skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A verrucous carcinoma that involves the plantar part of pes.
http://purl.obolibrary.org/obo/MONDO_0002766	larynx verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction.
http://purl.obolibrary.org/obo/MONDO_0002768	true hermaphroditism	http://purl.obolibrary.org/obo/MONDO_0002145	disorder of sexual differentiation		A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.
http://purl.obolibrary.org/obo/MONDO_0002769	leukorrhea	http://purl.obolibrary.org/obo/MONDO_0002770	vaginal discharge		Whitish or yellowish mucosal vaginal discharge.
http://purl.obolibrary.org/obo/MONDO_0002770	vaginal discharge	http://purl.obolibrary.org/obo/MONDO_0001433	vaginal disorder		Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.
http://purl.obolibrary.org/obo/MONDO_0002771	pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).
http://purl.obolibrary.org/obo/MONDO_0002772	intraventricular meningioma	http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges		A meningioma that affects the ventricles of the brain.
http://purl.obolibrary.org/obo/MONDO_0002775	anovulation	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		The absence of ovulation.
http://purl.obolibrary.org/obo/MONDO_0002776	external ear disorder	http://purl.obolibrary.org/obo/MONDO_0021205	disorder of ear		A disease involving the external ear.
http://purl.obolibrary.org/obo/MONDO_0002778	epidural spinal canal meningioma	http://purl.obolibrary.org/obo/MONDO_0001279	intraspinal meningioma		A meningioma that arises in the epidural spinal canal space.
http://purl.obolibrary.org/obo/MONDO_0002779	central nervous system chondroma	http://purl.obolibrary.org/obo/MONDO_0006423	soft tissue chondroma		An extraskeletal chondroma usually arising from the dura.
http://purl.obolibrary.org/obo/MONDO_0002781	glossopharyngeal nerve paralysis	http://purl.obolibrary.org/obo/MONDO_0002782	cranial nerve palsy		Paralysis of the glossopharyngeal nerve.
http://purl.obolibrary.org/obo/MONDO_0002782	cranial nerve palsy	http://purl.obolibrary.org/obo/MONDO_0003569	cranial nerve neuropathy		Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.
http://purl.obolibrary.org/obo/MONDO_0002783	Shwartzman phenomenon	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.
http://purl.obolibrary.org/obo/MONDO_0002785	skull base neoplasm	http://purl.obolibrary.org/obo/MONDO_0024653	skull neoplasm		A benign or malignant neoplasm that affects the skull base.
http://purl.obolibrary.org/obo/MONDO_0002786	diencephalic cancer	http://purl.obolibrary.org/obo/MONDO_0002071	supratentorial cancer		A cancer involving a diencephalon.
http://purl.obolibrary.org/obo/MONDO_0002787	adamantinous craniopharyngioma	http://purl.obolibrary.org/obo/MONDO_0018907	craniopharyngioma		A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0002788	papillary craniopharyngioma	http://purl.obolibrary.org/obo/MONDO_0018907	craniopharyngioma		A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0002789	hemangiopericytic tumor	http://purl.obolibrary.org/obo/MONDO_0002604	pericytic neoplasm		A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.
http://purl.obolibrary.org/obo/MONDO_0002790	seminal vesicle tumor	http://purl.obolibrary.org/obo/MONDO_0021348	neoplasm of testis		A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002791	large cell medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.
http://purl.obolibrary.org/obo/MONDO_0002792	cerebellar vermis medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A medulloblastoma arising from the vermis of the cerebellum.
http://purl.obolibrary.org/obo/MONDO_0002794	adult medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A medulloblastoma arising from the brain, occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0002795	adult central nervous system primitive neuroectodermal neoplasm	http://purl.obolibrary.org/obo/MONDO_0000640	central nervous system primitive neuroectodermal neoplasm		A central nervous system embryonal tumor, not otherwise specified that occurs in adults.
http://purl.obolibrary.org/obo/MONDO_0002796	melanotic medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.
http://purl.obolibrary.org/obo/MONDO_0002797	childhood medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A medulloblastoma occurring in children.
http://purl.obolibrary.org/obo/MONDO_0002798	childhood central nervous system primitive neuroectodermal neoplasm	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.
http://purl.obolibrary.org/obo/MONDO_0002800	thrombophlebitis	http://purl.obolibrary.org/obo/MONDO_0004625	phlebitis		Inflammation of the veins associated with the presence of a thrombus.
http://purl.obolibrary.org/obo/MONDO_0002801	colonic pseudo-obstruction	http://purl.obolibrary.org/obo/MONDO_0002803	intestinal pseudo-obstruction		Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.
http://purl.obolibrary.org/obo/MONDO_0002802	functional colonic disease	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category.
http://purl.obolibrary.org/obo/MONDO_0002803	intestinal pseudo-obstruction	http://purl.obolibrary.org/obo/MONDO_0004567	ileus		Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.
http://purl.obolibrary.org/obo/MONDO_0002804	apocrine adenoma	http://purl.obolibrary.org/obo/MONDO_0003686	apocrine sweat gland neoplasm		A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.
http://purl.obolibrary.org/obo/MONDO_0002805	hidradenoma	http://purl.obolibrary.org/obo/MONDO_0021110	sweat gland adenoma		A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.
http://purl.obolibrary.org/obo/MONDO_0002806	bronchogenic carcinoma	http://purl.obolibrary.org/obo/MONDO_0005138	lung carcinoma		A lung carcinoma arising from the bronchial epithelium.
http://purl.obolibrary.org/obo/MONDO_0002807	bronchial neoplasm	http://purl.obolibrary.org/obo/MONDO_0020641	respiratory tract neoplasm		Tumors or cancer of the bronchi.
http://purl.obolibrary.org/obo/MONDO_0002808	pancreatic serous cystadenoma	http://purl.obolibrary.org/obo/MONDO_0005177	serous cystadenoma		A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0002809	pancreatic cystadenoma	http://purl.obolibrary.org/obo/MONDO_0021076	pancreatic exocrine neoplasm		A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.
http://purl.obolibrary.org/obo/MONDO_0002810	pancreatic serous cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021076	pancreatic exocrine neoplasm		A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002811	main bronchus cancer	http://purl.obolibrary.org/obo/MONDO_0001672	bronchus cancer		A malignant neoplasm involving the main bronchus.
http://purl.obolibrary.org/obo/MONDO_0002812	infectious otitis interna	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.
http://purl.obolibrary.org/obo/MONDO_0002813	lipomatous cancer	http://purl.obolibrary.org/obo/MONDO_0021354	tumor of adipose tissue		A malignant mesenchymal neoplasm arising from adipocytes.
http://purl.obolibrary.org/obo/MONDO_0002814	adrenal carcinoma	http://purl.obolibrary.org/obo/MONDO_0002817	adrenal gland cancer		A carcinoma involving a adrenal gland.
http://purl.obolibrary.org/obo/MONDO_0002815	acute myocarditis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.
http://purl.obolibrary.org/obo/MONDO_0002816	adrenal cortex disorder	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		A disease involving the adrenal cortex.
http://purl.obolibrary.org/obo/MONDO_0002817	adrenal gland cancer	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		A malignant neoplasm involving the adrenal gland
http://purl.obolibrary.org/obo/MONDO_0002822	trabecular adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0002824	extrinsic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy		A cardiomyopathy that is not due to abnormalities in heart muscle cells.
http://purl.obolibrary.org/obo/MONDO_0002828	Bartholin gland transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006474	transitional cell carcinoma		A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0002829	bartholin gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0021114	Bartholin gland neoplasm		A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002831	non-keratinizing sinonasal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044787	nasal cavity and paranasal sinus squamous cell carcinoma		A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.
http://purl.obolibrary.org/obo/MONDO_0002832	endometrial transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006474	transitional cell carcinoma		A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.
http://purl.obolibrary.org/obo/MONDO_0002833	fallopian tube transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006474	transitional cell carcinoma		A rare transitional cell carcinoma that arises from the fallopian tube.
http://purl.obolibrary.org/obo/MONDO_0002834	primary prostate urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0006474	transitional cell carcinoma		An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.
http://purl.obolibrary.org/obo/MONDO_0002836	urethra transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0040679	urothelial carcinoma		A transitional cell carcinoma that arises from the male or female urethra.
http://purl.obolibrary.org/obo/MONDO_0002837	sarcomatoid transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006474	transitional cell carcinoma		A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features.
http://purl.obolibrary.org/obo/MONDO_0002840	eosinophilic gastritis	http://purl.obolibrary.org/obo/MONDO_0016129	eosinophilic gastroenteritis		An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.
http://purl.obolibrary.org/obo/MONDO_0002842	bacterial gastritis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Gastritis resulting from bacteria.
http://purl.obolibrary.org/obo/MONDO_0002843	fungal gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		Gastritis resulting from fungi.
http://purl.obolibrary.org/obo/MONDO_0002845	necrotizing gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		A variant of phlegmonous gastritis, typically progressing to gastric gangrene.
http://purl.obolibrary.org/obo/MONDO_0002846	granulomatous gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		Gastritis that is associated with the presence of granulomas.
http://purl.obolibrary.org/obo/MONDO_0002847	skeletal muscle cancer	http://purl.obolibrary.org/obo/MONDO_0005864	muscle cancer		A malignant neoplasm arising from skeletal muscle.
http://purl.obolibrary.org/obo/MONDO_0002848	skeletal muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant mesenchymal neoplasm arising from skeletal muscle.
http://purl.obolibrary.org/obo/MONDO_0002849	liver rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.
http://purl.obolibrary.org/obo/MONDO_0002850	central nervous system rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0002851	mediastinum rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0002852	mediastinum sarcoma	http://purl.obolibrary.org/obo/MONDO_0037743	mediastinal soft tissue cancer		A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002853	rectum rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.
http://purl.obolibrary.org/obo/MONDO_0002854	prostate sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.
http://purl.obolibrary.org/obo/MONDO_0002855	ectomesenchymoma	http://purl.obolibrary.org/obo/MONDO_0005872	nervous system cancer		An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.
http://purl.obolibrary.org/obo/MONDO_0002856	gallbladder rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A rhabdomyosarcoma that is located in the gallbladder.
http://purl.obolibrary.org/obo/MONDO_0002857	gallbladder sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002858	ovary rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.
http://purl.obolibrary.org/obo/MONDO_0002859	breast rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.
http://purl.obolibrary.org/obo/MONDO_0002860	testis rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.
http://purl.obolibrary.org/obo/MONDO_0002861	testis sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.
http://purl.obolibrary.org/obo/MONDO_0002862	bile duct sarcoma	http://purl.obolibrary.org/obo/MONDO_0003059	bile duct cancer		A sarcoma that involves the bile duct.
http://purl.obolibrary.org/obo/MONDO_0002863	rhabdomyosarcoma with mixed embryonal and alveolar features	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002864	anus rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002865	anus sarcoma		A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.
http://purl.obolibrary.org/obo/MONDO_0002865	anus sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.
http://purl.obolibrary.org/obo/MONDO_0002866	duodenal disorder	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		Pathological conditions in the duodenum region of the small intestine (intestine, small).
http://purl.obolibrary.org/obo/MONDO_0002867	pancreatic cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006047	pancreatic adenocarcinoma		A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.
http://purl.obolibrary.org/obo/MONDO_0002868	bile duct mucinous cystic neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0003420	bile duct cystadenoma		A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.
http://purl.obolibrary.org/obo/MONDO_0002869	heart valve disorder	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A disease involving the cardial valve.
http://purl.obolibrary.org/obo/MONDO_0002870	tricuspid valve insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder		The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.
http://purl.obolibrary.org/obo/MONDO_0002871	testicular trophoblastic tumor	http://purl.obolibrary.org/obo/MONDO_0006447	testicular non-seminomatous germ cell tumor		A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.
http://purl.obolibrary.org/obo/MONDO_0002872	trophoblastic neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0002874	testicular pure germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0010108	testicular germ cell tumor		A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.
http://purl.obolibrary.org/obo/MONDO_0002875	parasitic ectoparasitic infectious disease	http://purl.obolibrary.org/obo/MONDO_0024610	parasitic skin disorder		Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.
http://purl.obolibrary.org/obo/MONDO_0002876	cervical adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0016277	malignant mixed epithelial and mesenchymal tumor of cervix uteri		A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.
http://purl.obolibrary.org/obo/MONDO_0002877	cervical carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0016277	malignant mixed epithelial and mesenchymal tumor of cervix uteri		A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002878	uterine corpus adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0005636	adenosarcoma		A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.
http://purl.obolibrary.org/obo/MONDO_0002879	uterine body mixed cancer	http://purl.obolibrary.org/obo/MONDO_0016255	uterine corpus mixed epithelial and mesenchymal neoplasm		A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.
http://purl.obolibrary.org/obo/MONDO_0002880	ovarian adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.
http://purl.obolibrary.org/obo/MONDO_0002881	vaginal adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0005636	adenosarcoma		A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.
http://purl.obolibrary.org/obo/MONDO_0002882	colon neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0005401	colonic neoplasm		A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/MONDO_0002883	intestinal neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0024503	digestive system neuroendocrine neoplasm		A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/MONDO_0002884	nail disorder	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		A disease involving the nail.
http://purl.obolibrary.org/obo/MONDO_0002885	erythrasma	http://purl.obolibrary.org/obo/MONDO_0002922	pyoderma		A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.
http://purl.obolibrary.org/obo/MONDO_0002886	common bile duct disorder	http://purl.obolibrary.org/obo/MONDO_0002887	bile duct disorder		A disease involving the common bile duct.
http://purl.obolibrary.org/obo/MONDO_0002887	bile duct disorder	http://purl.obolibrary.org/obo/MONDO_0004868	biliary tract disorder		A disease involving the bile duct.
http://purl.obolibrary.org/obo/MONDO_0002888	intraorbital meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that affects the intraorbital structures.
http://purl.obolibrary.org/obo/MONDO_0002889	orbital cancer	http://purl.obolibrary.org/obo/MONDO_0002132	skull cancer		A primary or metastatic malignant neoplasm involving the orbit.
http://purl.obolibrary.org/obo/MONDO_0002892	skull base chordoma	http://purl.obolibrary.org/obo/MONDO_0008978	chordoma		A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..
http://purl.obolibrary.org/obo/MONDO_0002894	spinal chordoma	http://purl.obolibrary.org/obo/MONDO_0008978	chordoma		A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.
http://purl.obolibrary.org/obo/MONDO_0002896	primary syphilis	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.
http://purl.obolibrary.org/obo/MONDO_0002897	secondary syphilis	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.
http://purl.obolibrary.org/obo/MONDO_0002898	skin cancer	http://purl.obolibrary.org/obo/MONDO_0002531	skin neoplasm		A malignant neoplasm involving the zone of skin
http://purl.obolibrary.org/obo/MONDO_0002899	differentiating neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005072	neuroblastoma		A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.
http://purl.obolibrary.org/obo/MONDO_0002900	cerebral neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005072	neuroblastoma		A neuroblastoma arising from the cerebral hemispheres.
http://purl.obolibrary.org/obo/MONDO_0002903	articulation disorder	http://purl.obolibrary.org/obo/MONDO_0004750	language disorder		A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants).
http://purl.obolibrary.org/obo/MONDO_0002904	echolalia	http://purl.obolibrary.org/obo/MONDO_0004730	speech disorder		A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.
http://purl.obolibrary.org/obo/MONDO_0002905	mutism	http://purl.obolibrary.org/obo/MONDO_0004730	speech disorder		The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis.
http://purl.obolibrary.org/obo/MONDO_0002907	intracranial thrombosis	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.
http://purl.obolibrary.org/obo/MONDO_0002908	glucose metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A metabolic disorder characterized by abnormal blood glucose levels.
http://purl.obolibrary.org/obo/MONDO_0002909	hyperglycemia	http://purl.obolibrary.org/obo/MONDO_0002908	glucose metabolism disease		Abnormally high level of glucose in the blood.
http://purl.obolibrary.org/obo/MONDO_0002910	peroneal neuropathy	http://purl.obolibrary.org/obo/MONDO_0001397	mononeuropathy		Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)
http://purl.obolibrary.org/obo/MONDO_0002911	brain stem glioma	http://purl.obolibrary.org/obo/MONDO_0005499	brain glioma		A neuroglial tumor that arises from the brain stem.
http://purl.obolibrary.org/obo/MONDO_0002912	brainstem cancer	http://purl.obolibrary.org/obo/MONDO_0021228	brainstem neoplasm		A primary or metastatic malignant neoplasm that affects the brain stem.
http://purl.obolibrary.org/obo/MONDO_0002913	cerebellar neoplasm	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003
http://purl.obolibrary.org/obo/MONDO_0002914	childhood brain stem neoplasm	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A neoplasm that affects the brain stem and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0002915	childhood infratentorial neoplasm	http://purl.obolibrary.org/obo/MONDO_0037736	infratentorial neoplasm		A neoplasm that affects the infratentorial region of the brain and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0002916	brainstem intraparenchymal clear cell meningioma	http://purl.obolibrary.org/obo/MONDO_0002918	clear cell meningioma		A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.
http://purl.obolibrary.org/obo/MONDO_0002917	disorder of pilosebaceous unit	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		A disease that involves the pilosebaceous unit.
http://purl.obolibrary.org/obo/MONDO_0002918	clear cell meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.
http://purl.obolibrary.org/obo/MONDO_0002919	posterior cranial fossa meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that affects the posterior cranial fossa.
http://purl.obolibrary.org/obo/MONDO_0002920	malignant ovarian Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0018364	malignant epithelial tumor of ovary		A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.
http://purl.obolibrary.org/obo/MONDO_0002921	congenital structural myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.
http://purl.obolibrary.org/obo/MONDO_0002922	pyoderma	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Any skin disease that is pyegenic.
http://purl.obolibrary.org/obo/MONDO_0002923	uterine corpus endometrial stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0006745	endometrioid stromal sarcoma		A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.
http://purl.obolibrary.org/obo/MONDO_0002924	smooth muscle cancer	http://purl.obolibrary.org/obo/MONDO_0006975	smooth muscle tumor		A malignant neoplasm arising from smooth muscle.
http://purl.obolibrary.org/obo/MONDO_0002926	clear cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.
http://purl.obolibrary.org/obo/MONDO_0002927	spindle cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0020663	malignant spindle cell neoplasm		A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.
http://purl.obolibrary.org/obo/MONDO_0002928	carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.
http://purl.obolibrary.org/obo/MONDO_0002930	kidney sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A sarcoma involving a kidney.
http://purl.obolibrary.org/obo/MONDO_0002933	osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0000833	bone remodeling disease		Abnormally high bone density.
http://purl.obolibrary.org/obo/MONDO_0002934	intravascular angioleiomyoma	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.
http://purl.obolibrary.org/obo/MONDO_0002935	penis basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006360	penile carcinoma		A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.
http://purl.obolibrary.org/obo/MONDO_0002936	scrotum basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A scrotal carcinoma that involves the basal cell.
http://purl.obolibrary.org/obo/MONDO_0002937	nodular basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.
http://purl.obolibrary.org/obo/MONDO_0002938	metatypical basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0002939	skin pigmented basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002.
http://purl.obolibrary.org/obo/MONDO_0002940	anal margin basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.
http://purl.obolibrary.org/obo/MONDO_0002941	anal margin carcinoma	http://purl.obolibrary.org/obo/MONDO_0003199	anal carcinoma		A carcinoma that arises from epithelial cells of the perianal skin
http://purl.obolibrary.org/obo/MONDO_0002943	external ear basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A basal cell carcinoma that arises from the skin of the external ear.
http://purl.obolibrary.org/obo/MONDO_0002944	external ear carcinoma	http://purl.obolibrary.org/obo/MONDO_0003574	external ear cancer		A carcinoma that arises from epithelial cells of the external ear
http://purl.obolibrary.org/obo/MONDO_0002945	micronodular basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back.
http://purl.obolibrary.org/obo/MONDO_0002946	gynatresia	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A congenital or acquired occlusion of an opening in any part of the female genital tract.
http://purl.obolibrary.org/obo/MONDO_0002948	skin fibroepithelial basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.
http://purl.obolibrary.org/obo/MONDO_0002949	morpheaform basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0002950	skin clear cell basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.
http://purl.obolibrary.org/obo/MONDO_0002951	skin adenoid basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.
http://purl.obolibrary.org/obo/MONDO_0002953	skin infiltrative basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.
http://purl.obolibrary.org/obo/MONDO_0002954	superficial multifocal basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors.
http://purl.obolibrary.org/obo/MONDO_0002955	vulva basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis.
http://purl.obolibrary.org/obo/MONDO_0002959	radiculopathy	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.
http://purl.obolibrary.org/obo/MONDO_0002960	polyradiculopathy	http://purl.obolibrary.org/obo/MONDO_0006915	polyradiculoneuropathy		A radiculopathy that is present in more than one nerve.
http://purl.obolibrary.org/obo/MONDO_0002962	epidermolytic acanthoma	http://purl.obolibrary.org/obo/MONDO_0002093	acanthoma		A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.
http://purl.obolibrary.org/obo/MONDO_0002963	acantholytic acanthoma	http://purl.obolibrary.org/obo/MONDO_0002093	acanthoma		A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis.
http://purl.obolibrary.org/obo/MONDO_0002965	parovarian cyst	http://purl.obolibrary.org/obo/MONDO_0024652	embryonic cyst of fallopian tube		A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).
http://purl.obolibrary.org/obo/MONDO_0002966	splenic manifestation of prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0004699	gastrointestinal lymphoma		A prolymphocytic leukemia that involves the spleen.
http://purl.obolibrary.org/obo/MONDO_0002967	dermatophytosis of scalp or beard	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.
http://purl.obolibrary.org/obo/MONDO_0002968	lymphocele	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.
http://purl.obolibrary.org/obo/MONDO_0002969	ciliary body cancer	http://purl.obolibrary.org/obo/MONDO_0021229	ciliary body neoplasm		A malignant neoplasm involving the ciliary body.
http://purl.obolibrary.org/obo/MONDO_0002970	ciliary body disorder	http://purl.obolibrary.org/obo/MONDO_0002289	iris disorder		A disease involving the ciliary body.
http://purl.obolibrary.org/obo/MONDO_0002971	amelanotic melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.
http://purl.obolibrary.org/obo/MONDO_0002972	posterior mediastinum cancer	http://purl.obolibrary.org/obo/MONDO_0005843	mediastinal cancer		A malignant neoplasm involving the posterior mediastinum.
http://purl.obolibrary.org/obo/MONDO_0002973	epithelioid cell melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		A melanoma characterized by the presence of malignant large epithelioid melanocytes.
http://purl.obolibrary.org/obo/MONDO_0002974	cervical cancer	http://purl.obolibrary.org/obo/MONDO_0021230	uterine cervix neoplasm		A primary or metastatic malignant neoplasm involving the cervix.
http://purl.obolibrary.org/obo/MONDO_0002975	malignant breast melanoma	http://purl.obolibrary.org/obo/MONDO_0007254	breast cancer		A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.
http://purl.obolibrary.org/obo/MONDO_0002976	stomach diverticulosis	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		A pathological condition characterized by the presence of a number of gastric diverticula in the stomach.
http://purl.obolibrary.org/obo/MONDO_0002977	autoimmune disorder of the nervous system	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.
http://purl.obolibrary.org/obo/MONDO_0002978	orbit alveolar rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002580	orbit rhabdomyosarcoma		A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.
http://purl.obolibrary.org/obo/MONDO_0002979	papillary squamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006509	papillary carcinoma		A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.
http://purl.obolibrary.org/obo/MONDO_0002981	peripheral primitive neuroectodermal tumor of bone	http://purl.obolibrary.org/obo/MONDO_0018271	peripheral primitive neuroectodermal tumor		A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.
http://purl.obolibrary.org/obo/MONDO_0002982	peripheral primitive neuroectodermal tumor of soft tissues	http://purl.obolibrary.org/obo/MONDO_0018271	peripheral primitive neuroectodermal tumor		A small round cell tumor with neural differentiation arising from the soft tissues.
http://purl.obolibrary.org/obo/MONDO_0002984	reticulohistiocytic granuloma	http://purl.obolibrary.org/obo/MONDO_0002637	histiocytosis		A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003
http://purl.obolibrary.org/obo/MONDO_0002987	spongiotic dermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.
http://purl.obolibrary.org/obo/MONDO_0002988	cervix melanoma	http://purl.obolibrary.org/obo/MONDO_0002974	cervical cancer		An aggressive malignant tumor of melanocytic origin that arises from the cervix.
http://purl.obolibrary.org/obo/MONDO_0002989	benign fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0005509	histiocytoma		A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0002990	benign deep fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0002989	benign fibrous histiocytoma		A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.
http://purl.obolibrary.org/obo/MONDO_0002991	adenocarcinofibroma	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.
http://purl.obolibrary.org/obo/MONDO_0002993	pancreatic somatostatinoma	http://purl.obolibrary.org/obo/MONDO_0002994	pancreatic delta cell neuroendocrine tumor		A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0002994	pancreatic delta cell neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).
http://purl.obolibrary.org/obo/MONDO_0002995	small intestine neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0018510	small intestine neuroendocrine neoplasm		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine.
http://purl.obolibrary.org/obo/MONDO_0002996	cavernous sinus meningioma	http://purl.obolibrary.org/obo/MONDO_0021080	blood vessel neoplasm		A meningioma that affects the cavernous sinus.
http://purl.obolibrary.org/obo/MONDO_0002997	anterior cranial fossa meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that affects the anterior cranial fossa.
http://purl.obolibrary.org/obo/MONDO_0002998	skull base meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that arises from the skull base.
http://purl.obolibrary.org/obo/MONDO_0002999	central nervous system germinoma	http://purl.obolibrary.org/obo/MONDO_0015935	extragonadal germinoma		A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0003000	central nervous system germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0018201	extragonadal germ cell tumor		A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.
http://purl.obolibrary.org/obo/MONDO_0003001	seminoma	http://purl.obolibrary.org/obo/MONDO_0020580	germinomatous germ cell tumor		A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0003002	dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0020580	germinomatous germ cell tumor		A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.
http://purl.obolibrary.org/obo/MONDO_0003003	cervical alveolar soft part sarcoma	http://purl.obolibrary.org/obo/MONDO_0016280	sarcoma of cervix uteri		An alveolar soft part sarcoma arising from the cervix.
http://purl.obolibrary.org/obo/MONDO_0003004	macular degeneration	http://purl.obolibrary.org/obo/MONDO_0004580	retinal degeneration		Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
http://purl.obolibrary.org/obo/MONDO_0003005	macular retinal edema	http://purl.obolibrary.org/obo/MONDO_0004037	retinal edema		Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision.
http://purl.obolibrary.org/obo/MONDO_0003007	childhood kidney cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0036511	childhood malignant kidney neoplasm		A renal cell carcinoma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003008	hereditary renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0003009	hyperaldosteronism	http://purl.obolibrary.org/obo/MONDO_0006640	adrenal gland hyperfunction		Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.
http://purl.obolibrary.org/obo/MONDO_0003010	multilocular clear cell renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005005	clear cell renal carcinoma		A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells.
http://purl.obolibrary.org/obo/MONDO_0003011	mucinous tubular and spindle renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021568	renal tubule disorder		A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.
http://purl.obolibrary.org/obo/MONDO_0003012	sarcomatoid renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006406	sarcomatoid carcinoma		A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.
http://purl.obolibrary.org/obo/MONDO_0003014	rhinitis	http://purl.obolibrary.org/obo/MONDO_0020579	mucositis		An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.
http://purl.obolibrary.org/obo/MONDO_0003017	malignant peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0037737	peritoneal solitary fibrous tumor		A malignant form of peritoneal solitary fibrous tumor.
http://purl.obolibrary.org/obo/MONDO_0003019	potassium deficiency disease	http://purl.obolibrary.org/obo/MONDO_0005137	nutritional disorder		Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.
http://purl.obolibrary.org/obo/MONDO_0003021	central nervous system angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A malignant vascular neoplasm arising from the brain, spinal cord or meninges.
http://purl.obolibrary.org/obo/MONDO_0003022	pediatric angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		An angiosarcoma occurring in childhood.
http://purl.obolibrary.org/obo/MONDO_0003023	aorta angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A malignant vascular neoplasm arising from the aorta.
http://purl.obolibrary.org/obo/MONDO_0003024	breast angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A malignant vascular neoplasm arising from the breast.
http://purl.obolibrary.org/obo/MONDO_0003025	conventional angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		An angiosarcoma characterized by the presence of malignant spindle endothelial cells.
http://purl.obolibrary.org/obo/MONDO_0003026	gallbladder angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		An angiosarcoma that is located in the gallbladder.
http://purl.obolibrary.org/obo/MONDO_0003027	thyroid gland angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.
http://purl.obolibrary.org/obo/MONDO_0003028	thyroid sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm primarily involving the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0003029	skin angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A malignant vascular neoplasm arising from the skin.
http://purl.obolibrary.org/obo/MONDO_0003030	endometrioid stromal sarcoma of the cervix	http://purl.obolibrary.org/obo/MONDO_0016280	sarcoma of cervix uteri		A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.
http://purl.obolibrary.org/obo/MONDO_0003031	endometrioid stromal and related neoplasms of the cervix	http://purl.obolibrary.org/obo/MONDO_0021148	female reproductive system neoplasm		A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.
http://purl.obolibrary.org/obo/MONDO_0003032	superior vena cava angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0040676	great vessel cancer		A malignant vascular neoplasm arising from the superior vena cava.
http://purl.obolibrary.org/obo/MONDO_0003033	prostate angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A malignant vascular neoplasm arising from the prostate.
http://purl.obolibrary.org/obo/MONDO_0003034	mediastinum angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A malignant vascular neoplasm arising from the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0003035	ovarian angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		A malignant vascular neoplasm arising from the ovary.
http://purl.obolibrary.org/obo/MONDO_0003036	mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006720	cystic, mucinous, and serous neoplasm		A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.
http://purl.obolibrary.org/obo/MONDO_0003037	hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.
http://purl.obolibrary.org/obo/MONDO_0003038	dysgraphia	http://purl.obolibrary.org/obo/MONDO_0000599	writing disorder		Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)
http://purl.obolibrary.org/obo/MONDO_0003039	nominal aphasia	http://purl.obolibrary.org/obo/MONDO_0000598	aphasia		Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.
http://purl.obolibrary.org/obo/MONDO_0003040	retrograde amnesia	http://purl.obolibrary.org/obo/MONDO_0001152	amnestic disorder		The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected.
http://purl.obolibrary.org/obo/MONDO_0003041	pediatric mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0006853	mesenchymal chondrosarcoma		A mesenchymal chondrosarcoma occurring in children.
http://purl.obolibrary.org/obo/MONDO_0003042	adult mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0006853	mesenchymal chondrosarcoma		A mesenchymal chondrosarcoma occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003045	anal gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0003046	anus neoplasm		Tumors or cancer of the anal gland.
http://purl.obolibrary.org/obo/MONDO_0003046	anus neoplasm	http://purl.obolibrary.org/obo/MONDO_0002519	anus disorder		A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.
http://purl.obolibrary.org/obo/MONDO_0003047	thymic large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0020516	thymic neuroendocrine carcinoma		An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis.
http://purl.obolibrary.org/obo/MONDO_0003049	ovarian large-cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005140	ovarian carcinoma		A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0003050	lung large cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005233	non-small cell lung carcinoma		A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.
http://purl.obolibrary.org/obo/MONDO_0003051	non specific chronic endometritis	http://purl.obolibrary.org/obo/MONDO_0024279	chronic endometritis		Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.
http://purl.obolibrary.org/obo/MONDO_0003052	granulomatous endometritis	http://purl.obolibrary.org/obo/MONDO_0024279	chronic endometritis		Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.
http://purl.obolibrary.org/obo/MONDO_0003053	choroid plexus meningioma	http://purl.obolibrary.org/obo/MONDO_0002772	intraventricular meningioma		A meningioma that affects the choroid plexus.
http://purl.obolibrary.org/obo/MONDO_0003054	benign meningioma	http://purl.obolibrary.org/obo/MONDO_0021527	benign neoplasm of meninges		A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.
http://purl.obolibrary.org/obo/MONDO_0003055	secretory meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.
http://purl.obolibrary.org/obo/MONDO_0003056	lymphoplasmacyte-rich meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.
http://purl.obolibrary.org/obo/MONDO_0003057	pediatric meningioma	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		A meningioma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003058	microcystic meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.
http://purl.obolibrary.org/obo/MONDO_0003059	bile duct cancer	http://purl.obolibrary.org/obo/MONDO_0021662	bile duct neoplasm		A malignant neoplasm involving the bile duct
http://purl.obolibrary.org/obo/MONDO_0003060	biliary tract cancer	http://purl.obolibrary.org/obo/MONDO_0005304	biliary tract neoplasm		A malignant neoplasm involving the biliary tree
http://purl.obolibrary.org/obo/MONDO_0003061	benign muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0021545	myomatous neoplasm		A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.
http://purl.obolibrary.org/obo/MONDO_0003062	intestinal benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000385	benign digestive system neoplasm		A benign neoplasm that involves the intestine.
http://purl.obolibrary.org/obo/MONDO_0003064	inverted transitional cell papilloma	http://purl.obolibrary.org/obo/MONDO_0005605	transitional cell papilloma		A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.
http://purl.obolibrary.org/obo/MONDO_0003065	nasal cavity inverting papilloma	http://purl.obolibrary.org/obo/MONDO_0004756	nasal cavity neoplasm		A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0003066	submandibular adenitis	http://purl.obolibrary.org/obo/MONDO_0006969	sialadenitis		Inflammation of the submandibular lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0003067	cervical lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0002052	lymphadenitis		Inflammation of the cervical lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0003068	postauricular lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0002052	lymphadenitis		Inflammation of the postauricular lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0003069	suppurative lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0002052	lymphadenitis		A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.
http://purl.obolibrary.org/obo/MONDO_0003070	axillary lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0002052	lymphadenitis		An infection of the lymph nodes in the axilla.
http://purl.obolibrary.org/obo/MONDO_0003072	retinal cancer	http://purl.obolibrary.org/obo/MONDO_0021231	retina neoplasm		A malignant neoplasm involving the retina.
http://purl.obolibrary.org/obo/MONDO_0003073	trilateral retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0008380	retinoblastoma		Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).
http://purl.obolibrary.org/obo/MONDO_0003075	bilateral retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0008380	retinoblastoma		Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.
http://purl.obolibrary.org/obo/MONDO_0003076	unilateral retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0008380	retinoblastoma		A retinoblastoma that only involves a single eye.
http://purl.obolibrary.org/obo/MONDO_0003077	intraocular retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0008380	retinoblastoma		Retinoblastoma restricted to local involvement.
http://purl.obolibrary.org/obo/MONDO_0003078	extraocular retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0008380	retinoblastoma		Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.
http://purl.obolibrary.org/obo/MONDO_0003081	thalamic disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.
http://purl.obolibrary.org/obo/MONDO_0003083	venous hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A rare slow growing benign tumor of aberrant and ectatic venous connections.
http://purl.obolibrary.org/obo/MONDO_0003084	uremic neuropathy	http://purl.obolibrary.org/obo/MONDO_0007008	uremia		Neuropathy resulting from uremia.
http://purl.obolibrary.org/obo/MONDO_0003085	keratitis	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		A corneal disease that is characterized by inflammation of the cornea.
http://purl.obolibrary.org/obo/MONDO_0003086	thymic mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003209	thymus gland adenocarcinoma		A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports.
http://purl.obolibrary.org/obo/MONDO_0003087	mucoepidermoid breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.
http://purl.obolibrary.org/obo/MONDO_0003088	intramuscular hemangioma	http://purl.obolibrary.org/obo/MONDO_0003096	deep hemangioma		A hemangioma arising from skeletal muscle.
http://purl.obolibrary.org/obo/MONDO_0003089	extrahepatic bile duct mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003036	mucoepidermoid carcinoma		A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0003090	extrahepatic bile duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0021321	malignant tumor of extrahepatic bile duct		A carcinoma that arises from epithelial cells of the extrahepatic bile duct.
http://purl.obolibrary.org/obo/MONDO_0003091	cutaneous mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003036	mucoepidermoid carcinoma		A mucoepidermoid carcinoma that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0003092	lacrimal gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003036	mucoepidermoid carcinoma		An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.
http://purl.obolibrary.org/obo/MONDO_0003093	mucoepidermoid esophageal carcinoma	http://purl.obolibrary.org/obo/MONDO_0005028	esophageal adenocarcinoma		A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)
http://purl.obolibrary.org/obo/MONDO_0003095	laryngeal mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003036	mucoepidermoid carcinoma		A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms.
http://purl.obolibrary.org/obo/MONDO_0003096	deep hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma arising from the deep soft tissues.
http://purl.obolibrary.org/obo/MONDO_0003098	mediastinal neural neoplasm	http://purl.obolibrary.org/obo/MONDO_0021386	neoplasm of mediastinum		A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma.
http://purl.obolibrary.org/obo/MONDO_0003100	nerve plexus neoplasm	http://purl.obolibrary.org/obo/MONDO_0024432	nerve plexus disorder		A neoplasm (disease) that involves the nerve plexus.
http://purl.obolibrary.org/obo/MONDO_0003103	nerve root neoplasm	http://purl.obolibrary.org/obo/MONDO_0001406	peripheral nervous system neoplasm		Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.
http://purl.obolibrary.org/obo/MONDO_0003104	epicardium cancer	http://purl.obolibrary.org/obo/MONDO_0021379	neoplasm of epicardium		A malignant neoplasm involving the epicardium.
http://purl.obolibrary.org/obo/MONDO_0003105	prostate disorder	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		A disease involving the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0003107	infratentorial cancer	http://purl.obolibrary.org/obo/MONDO_0001657	brain cancer		Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.
http://purl.obolibrary.org/obo/MONDO_0003109	foramen magnum meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	skull base meningioma		A meningioma that affects the foramen magnum.
http://purl.obolibrary.org/obo/MONDO_0003110	skin hemangioma	http://purl.obolibrary.org/obo/MONDO_0021440	benign neoplasm of skin		A hemangioma arising from the skin.
http://purl.obolibrary.org/obo/MONDO_0003111	gastric neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021085	gastric neoplasm		A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/MONDO_0003112	malignant gastric germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003113	extragonadal germ cell cancer		A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.
http://purl.obolibrary.org/obo/MONDO_0003113	extragonadal germ cell cancer	http://purl.obolibrary.org/obo/MONDO_0018201	extragonadal germ cell tumor		A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.
http://purl.obolibrary.org/obo/MONDO_0003115	subglottic hemangioma	http://purl.obolibrary.org/obo/MONDO_0021530	benign neoplasm of subglottis		A hemangioma arising from the subglottic area.
http://purl.obolibrary.org/obo/MONDO_0003117	somatoform disorder	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.
http://purl.obolibrary.org/obo/MONDO_0003118	testicular Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0024235	Brenner tumor		An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.
http://purl.obolibrary.org/obo/MONDO_0003120	mixed testicular germ cell cancer	http://purl.obolibrary.org/obo/MONDO_0015864	mixed germ cell tumor		A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.
http://purl.obolibrary.org/obo/MONDO_0003121	middle cranial fossa meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that affects the middle cranial fossa.
http://purl.obolibrary.org/obo/MONDO_0003122	striatonigral degeneration	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.
http://purl.obolibrary.org/obo/MONDO_0003124	testicular Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0006266	Leydig cell tumor		A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.
http://purl.obolibrary.org/obo/MONDO_0003125	testicular sex cord-stromal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021348	neoplasm of testis		A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.
http://purl.obolibrary.org/obo/MONDO_0003126	breast hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A capillary or cavernous hemangioma arising from the breast.
http://purl.obolibrary.org/obo/MONDO_0003128	classic pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0005933	pulmonary blastoma		A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.
http://purl.obolibrary.org/obo/MONDO_0003129	epithelial predominant pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0005933	pulmonary blastoma		A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.
http://purl.obolibrary.org/obo/MONDO_0003130	mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0002367	kidney cancer		A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.
http://purl.obolibrary.org/obo/MONDO_0003133	exudative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.
http://purl.obolibrary.org/obo/MONDO_0003134	proliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.
http://purl.obolibrary.org/obo/MONDO_0003135	focal embolic glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.
http://purl.obolibrary.org/obo/MONDO_0003136	anti-basement membrane glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.
http://purl.obolibrary.org/obo/MONDO_0003137	diffuse glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.
http://purl.obolibrary.org/obo/MONDO_0003138	subacute glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.
http://purl.obolibrary.org/obo/MONDO_0003139	mesangial proliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.
http://purl.obolibrary.org/obo/MONDO_0003140	immune-complex glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.
http://purl.obolibrary.org/obo/MONDO_0003141	cerebellopontine angle embryonal tumor	http://purl.obolibrary.org/obo/MONDO_0003107	infratentorial cancer		A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.
http://purl.obolibrary.org/obo/MONDO_0003142	intracranial primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0001657	brain cancer		A primitive neuroectodermal tumor that involves the brain.
http://purl.obolibrary.org/obo/MONDO_0003143	angiokeratoma	http://purl.obolibrary.org/obo/MONDO_0003110	skin hemangioma		A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).
http://purl.obolibrary.org/obo/MONDO_0003144	medulloepithelioma	http://purl.obolibrary.org/obo/MONDO_0016713	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor		A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.
http://purl.obolibrary.org/obo/MONDO_0003145	supratentorial primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0002071	supratentorial cancer		A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.
http://purl.obolibrary.org/obo/MONDO_0003147	space motion sickness	http://purl.obolibrary.org/obo/MONDO_0008015	motion sickness		Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)
http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		A disease involving the male reproductive system.
http://purl.obolibrary.org/obo/MONDO_0003153	adult brainstem glioma	http://purl.obolibrary.org/obo/MONDO_0024797	adult brain stem neoplasm		A brain stem glioma that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0003154	hemangioma of peripheral nerve	http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system		A hemangioma arising from the peripheral nerves.
http://purl.obolibrary.org/obo/MONDO_0003155	cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma characterized by the presence of cavernous vascular spaces.
http://purl.obolibrary.org/obo/MONDO_0003157	disappearing bone disease	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.
http://purl.obolibrary.org/obo/MONDO_0003158	malignant myoepithelioma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.
http://purl.obolibrary.org/obo/MONDO_0003159	vascular hemostatic disease	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.
http://purl.obolibrary.org/obo/MONDO_0003164	cauda equina neoplasm	http://purl.obolibrary.org/obo/MONDO_0003103	nerve root neoplasm		A neoplasm involving a cauda equina.
http://purl.obolibrary.org/obo/MONDO_0003165	cerebellar astrocytoma	http://purl.obolibrary.org/obo/MONDO_0021631	brain astrocytoma		Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.
http://purl.obolibrary.org/obo/MONDO_0003168	cerebellar pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0021499	benign neoplasm of cerebellum		A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.
http://purl.obolibrary.org/obo/MONDO_0003169	diencephalic astrocytomas	http://purl.obolibrary.org/obo/MONDO_0021631	brain astrocytoma		A astrocytoma that involves the diencephalon.
http://purl.obolibrary.org/obo/MONDO_0003170	gliofibroma	http://purl.obolibrary.org/obo/MONDO_0021636	astrocytic tumor		An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).
http://purl.obolibrary.org/obo/MONDO_0003171	pineal gland astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003249	pineal gland cancer		A astrocytoma that involves the pineal body.
http://purl.obolibrary.org/obo/MONDO_0003173	brain stem astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021631	brain astrocytoma		An astrocytoma that arises from the brain stem.
http://purl.obolibrary.org/obo/MONDO_0003174	spinal cord astrocytoma	http://purl.obolibrary.org/obo/MONDO_0019781	astrocytoma (excluding glioblastoma)		A low or high grade astrocytoma that arises in the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0003175	salivary gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004971	adenoid cystic carcinoma		An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.
http://purl.obolibrary.org/obo/MONDO_0003177	prostate adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0005082	prostate adenocarcinoma		An adenoid cystic carcinoma that arises from the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0003180	cutaneous adenocystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0005524	sweat gland carcinoma		A adenoid cystic carcinoma that involves the skin of body.
http://purl.obolibrary.org/obo/MONDO_0003181	lung adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.
http://purl.obolibrary.org/obo/MONDO_0003182	anterior horn disorder	http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder		Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.
http://purl.obolibrary.org/obo/MONDO_0003184	trachea carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that arises from epithelial cells of the trachea.
http://purl.obolibrary.org/obo/MONDO_0003185	adenoid cystic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.
http://purl.obolibrary.org/obo/MONDO_0003186	esophageal adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0005028	esophageal adenocarcinoma		An infrequent esophageal carcinoma arising from esophageal glands. (WHO)
http://purl.obolibrary.org/obo/MONDO_0003187	Bartholin gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004971	adenoid cystic carcinoma		A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns.
http://purl.obolibrary.org/obo/MONDO_0003189	middle ear adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the middle ear
http://purl.obolibrary.org/obo/MONDO_0003190	middle ear carcinoma	http://purl.obolibrary.org/obo/MONDO_0003275	middle ear cancer		A carcinoma that arises from epithelial cells of the middle ear
http://purl.obolibrary.org/obo/MONDO_0003191	rete ovarii adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003192	rete ovarii neoplasm		An exceptionally rare adenocarcinoma that arises from the rete ovarii.
http://purl.obolibrary.org/obo/MONDO_0003192	rete ovarii neoplasm	http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm		A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0003193	bile duct adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005496	bile duct carcinoma		A carcinoma that arises from glandular epithelial cells of the bile duct
http://purl.obolibrary.org/obo/MONDO_0003194	hemangioma of lung	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma that involves the lung.
http://purl.obolibrary.org/obo/MONDO_0003195	peritoneal serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005278	serous adenocarcinoma		A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary.
http://purl.obolibrary.org/obo/MONDO_0003196	appendix carcinoma	http://purl.obolibrary.org/obo/MONDO_0018511	epithelial tumor of the appendix		A carcinoma that arises from epithelial cells of the vermiform appendix
http://purl.obolibrary.org/obo/MONDO_0003197	granular cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0003198	small intestine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005522	small intestine carcinoma		An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0003199	anal carcinoma	http://purl.obolibrary.org/obo/MONDO_0044937	rectal carcinoma		A carcinoma that arises from epithelial cells of the anus
http://purl.obolibrary.org/obo/MONDO_0003200	urethra adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0021327	carcinoma of urethra		A carcinoma that arises from glandular epithelial cells of the urethra
http://purl.obolibrary.org/obo/MONDO_0003204	villous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.
http://purl.obolibrary.org/obo/MONDO_0003205	renal pelvis adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005519	renal pelvis carcinoma		A carcinoma that arises from glandular epithelial cells of the renal pelvis
http://purl.obolibrary.org/obo/MONDO_0003206	acquired hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma that is not present at birth but develops later in life.
http://purl.obolibrary.org/obo/MONDO_0003208	breast secretory carcinoma	http://purl.obolibrary.org/obo/MONDO_0004953	invasive ductal breast carcinoma		A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.
http://purl.obolibrary.org/obo/MONDO_0003209	thymus gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006451	thymic carcinoma		A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.
http://purl.obolibrary.org/obo/MONDO_0003210	intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0019087	cholangiocarcinoma		A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.
http://purl.obolibrary.org/obo/MONDO_0003211	nasal cavity adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the nasal cavity
http://purl.obolibrary.org/obo/MONDO_0003212	nasal cavity carcinoma	http://purl.obolibrary.org/obo/MONDO_0002038	head and neck carcinoma		A carcinoma that arises from epithelial cells of the nasal cavity
http://purl.obolibrary.org/obo/MONDO_0003214	apocrine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005524	sweat gland carcinoma		A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.
http://purl.obolibrary.org/obo/MONDO_0003215	apocrine sweat gland cancer	http://purl.obolibrary.org/obo/MONDO_0003686	apocrine sweat gland neoplasm		A malignant neoplasm involving the apocrine sweat gland.
http://purl.obolibrary.org/obo/MONDO_0003216	ureter adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006481	ureter carcinoma		A carcinoma that arises from glandular epithelial cells of the ureter
http://purl.obolibrary.org/obo/MONDO_0003218	adenocarcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.
http://purl.obolibrary.org/obo/MONDO_0003219	gastroesophageal junction adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A carcinoma that arises from glandular epithelial cells of the esophagogastric junction.
http://purl.obolibrary.org/obo/MONDO_0003220	gallbladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A carcinoma that arises from epithelial cells of the gall bladder
http://purl.obolibrary.org/obo/MONDO_0003222	central nervous system melanocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021143	melanocytic neoplasm		A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.
http://purl.obolibrary.org/obo/MONDO_0003223	meninges hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges		A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.
http://purl.obolibrary.org/obo/MONDO_0003225	bone marrow disorder	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		Any disease of the bone marrow.
http://purl.obolibrary.org/obo/MONDO_0003227	prosopagnosia	http://purl.obolibrary.org/obo/MONDO_0005638	agnosia		Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.
http://purl.obolibrary.org/obo/MONDO_0003231	acute nonparalytic poliomyelitis	http://purl.obolibrary.org/obo/MONDO_0017373	poliomyelitis		A poliomyelitis that does not exhibit paralysis.
http://purl.obolibrary.org/obo/MONDO_0003232	alcoholic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0021699	alcohol-induced disorders		Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.
http://purl.obolibrary.org/obo/MONDO_0003233	essential tremor	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)
http://purl.obolibrary.org/obo/MONDO_0003234	optic nerve astrocytoma	http://purl.obolibrary.org/obo/MONDO_0024649	optic tract astrocytoma		A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.
http://purl.obolibrary.org/obo/MONDO_0003235	optic nerve glioma	http://purl.obolibrary.org/obo/MONDO_0016167	optic pathway glioma		A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.
http://purl.obolibrary.org/obo/MONDO_0003236	atypical polypoid adenomyoma	http://purl.obolibrary.org/obo/MONDO_0005635	adenomyoma		An adenomyoma characterized by the presence of marked glandular architectural complexity.
http://purl.obolibrary.org/obo/MONDO_0003237	adenomyoma of uterine corpus	http://purl.obolibrary.org/obo/MONDO_0021525	benign neoplasm of corpus uteri		A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.
http://purl.obolibrary.org/obo/MONDO_0003238	cervical adenomyoma	http://purl.obolibrary.org/obo/MONDO_0005635	adenomyoma		A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.
http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A disease involving the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0003241	central nervous system hemangioma	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A hemangioma arising from the brain and spinal cord.
http://purl.obolibrary.org/obo/MONDO_0003243	hepatocellular clear cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0007256	hepatocellular carcinoma		A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.
http://purl.obolibrary.org/obo/MONDO_0003244	central nervous system mesenchymal non-meningothelial tumor	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0003245	aflatoxin-related hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0007256	hepatocellular carcinoma		A hepatocellular carcinoma that develops following exposure to aflatoxin.
http://purl.obolibrary.org/obo/MONDO_0003246	sclerosing hepatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0007256	hepatocellular carcinoma		An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.
http://purl.obolibrary.org/obo/MONDO_0003248	adult pineal parenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0024890	pineal parenchymal cell neoplasm		A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003249	pineal gland cancer	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		Abnormal malignant growth of the cells that comprise the pineal parenchyma.
http://purl.obolibrary.org/obo/MONDO_0003250	benign granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system		A granular cell tumor that is confined to the site of origin, without metastatic potential.
http://purl.obolibrary.org/obo/MONDO_0003251	esophageal granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0021355	neoplasm of esophagus		A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003
http://purl.obolibrary.org/obo/MONDO_0003252	granular cell cancer	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.
http://purl.obolibrary.org/obo/MONDO_0003253	vulvar granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm		A usually benign granular cell tumor that arises from the vulva.
http://purl.obolibrary.org/obo/MONDO_0003254	cardiac granular cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0021508	benign neoplasm of epicardium		A very rare granular cell tumor that arises from the heart.
http://purl.obolibrary.org/obo/MONDO_0003255	mediastinal granular cell myoblastoma	http://purl.obolibrary.org/obo/MONDO_0021386	neoplasm of mediastinum		An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.
http://purl.obolibrary.org/obo/MONDO_0003256	neurohypophysis granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0006235	granular cell tumor		A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0003257	posterior pituitary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0017611	pituitary tumor		A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.
http://purl.obolibrary.org/obo/MONDO_0003258	hobnail hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma characterized by the presence of hobnail endothelial cells.
http://purl.obolibrary.org/obo/MONDO_0003260	adult cerebellar neoplasm	http://purl.obolibrary.org/obo/MONDO_0002913	cerebellar neoplasm		A cerebellar neoplasm that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0003261	papillary meningioma of the cerebellum	http://purl.obolibrary.org/obo/MONDO_0021088	papillary meningioma		A papillary meningioma that affects the cerebellum.
http://purl.obolibrary.org/obo/MONDO_0003262	rhabdoid meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.
http://purl.obolibrary.org/obo/MONDO_0003263	childhood cerebellar neoplasm	http://purl.obolibrary.org/obo/MONDO_0002915	childhood infratentorial neoplasm		A neoplasm that affects the cerebellum and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003264	basosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.
http://purl.obolibrary.org/obo/MONDO_0003265	adjustment disorder	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.
http://purl.obolibrary.org/obo/MONDO_0003266	ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0021042	glioma		A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)
http://purl.obolibrary.org/obo/MONDO_0003268	mixed glioma	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).
http://purl.obolibrary.org/obo/MONDO_0003273	sternum cancer	http://purl.obolibrary.org/obo/MONDO_0021578	sternal neoplasm		A malignant neoplasm involving the sternum
http://purl.obolibrary.org/obo/MONDO_0003274	thoracic cancer	http://purl.obolibrary.org/obo/MONDO_0021350	neoplasm of thorax		A primary or metastatic malignant neoplasm affecting the tissues of the thorax.
http://purl.obolibrary.org/obo/MONDO_0003275	middle ear cancer	http://purl.obolibrary.org/obo/MONDO_0021366	neoplasm of middle ear		A malignant neoplasm involving the middle ear
http://purl.obolibrary.org/obo/MONDO_0003276	middle ear disorder	http://purl.obolibrary.org/obo/MONDO_0021205	disorder of ear		A disease involving the middle ear.
http://purl.obolibrary.org/obo/MONDO_0003277	malignant ear neoplasm	http://purl.obolibrary.org/obo/MONDO_0021233	ear neoplasm		A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.
http://purl.obolibrary.org/obo/MONDO_0003278	inner ear cancer	http://purl.obolibrary.org/obo/MONDO_0024320	inner ear neoplasm		A malignant neoplasm involving the internal ear.
http://purl.obolibrary.org/obo/MONDO_0003279	testicular infarct	http://purl.obolibrary.org/obo/MONDO_0002329	testicular disorder		Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.
http://purl.obolibrary.org/obo/MONDO_0003280	swayback	http://purl.obolibrary.org/obo/MONDO_0700103	nutritional deficiency disease, non-human animal		Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)
http://purl.obolibrary.org/obo/MONDO_0003281	ovarian cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0011366	ovarian germ cell tumor		A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.
http://purl.obolibrary.org/obo/MONDO_0003283	epididymal neoplasm	http://purl.obolibrary.org/obo/MONDO_0024582	male reproductive system neoplasm		A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0003284	mediastinum leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021521	benign neoplasm of mediastinum		A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003285	fallopian tube leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003286	extrahepatic bile duct leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021385	extrahepatic bile duct neoplasm		A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003287	central nervous system leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0003288	bizarre leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0003289	deep leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003291	leiomyoma cutis	http://purl.obolibrary.org/obo/MONDO_0021440	benign neoplasm of skin		A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003292	anus leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021469	benign neoplasm of anus		A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003293	lung leiomyoma	http://purl.obolibrary.org/obo/MONDO_0002732	lung benign neoplasm		A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003294	pericardium leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021514	benign neoplasm of pericardium		A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003295	leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.
http://purl.obolibrary.org/obo/MONDO_0003296	cellular leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.
http://purl.obolibrary.org/obo/MONDO_0003297	gallbladder leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021503	benign neoplasm of gallbladder		A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003298	vulvar leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003299	colorectal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021444	benign neoplasm of large intestine		A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003300	appendix leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021465	benign neoplasm of appendix		A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003301	dartoic leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.
http://purl.obolibrary.org/obo/MONDO_0003302	epithelioid neurofibroma	http://purl.obolibrary.org/obo/MONDO_0016755	neurofibroma		A rare neurofibroma with epithelioid morphology.
http://purl.obolibrary.org/obo/MONDO_0003303	neurofibroma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.
http://purl.obolibrary.org/obo/MONDO_0003304	plexiform neurofibroma	http://purl.obolibrary.org/obo/MONDO_0016755	neurofibroma		An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)
http://purl.obolibrary.org/obo/MONDO_0003305	cellular neurofibroma	http://purl.obolibrary.org/obo/MONDO_0016755	neurofibroma		A neurofibroma characterized by the presence of areas with increased cellularity.
http://purl.obolibrary.org/obo/MONDO_0003306	atypical neurofibroma	http://purl.obolibrary.org/obo/MONDO_0016755	neurofibroma		A neurofibroma characterized by the presence of cellular pleomorphism.
http://purl.obolibrary.org/obo/MONDO_0003308	pleural mesothelioma	http://purl.obolibrary.org/obo/MONDO_0021065	pleural neoplasm		A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath.
http://purl.obolibrary.org/obo/MONDO_0003310	Monckeberg arteriosclerosis	http://purl.obolibrary.org/obo/MONDO_0002277	arteriosclerosis disorder		A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.
http://purl.obolibrary.org/obo/MONDO_0003311	endometrial stromal tumor	http://purl.obolibrary.org/obo/MONDO_0021251	endometrium neoplasm		Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).
http://purl.obolibrary.org/obo/MONDO_0003312	ovarian endometrioid stromal and related neoplasms	http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm		A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.
http://purl.obolibrary.org/obo/MONDO_0003313	endometrioid stromal sarcoma of the vagina	http://purl.obolibrary.org/obo/MONDO_0006745	endometrioid stromal sarcoma		A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.
http://purl.obolibrary.org/obo/MONDO_0003314	endometrioid stromal and related neoplasms of the vagina	http://purl.obolibrary.org/obo/MONDO_0037742	endometrioid stromal and related neoplasms		A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.
http://purl.obolibrary.org/obo/MONDO_0003315	endometrium carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004710	uterus carcinoma in situ		A carcinoma in situ involving a endometrium.
http://purl.obolibrary.org/obo/MONDO_0003316	nonanaplastic kidney Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0019004	kidney Wilms tumor		Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.
http://purl.obolibrary.org/obo/MONDO_0003317	metachronous kidney Wilms' tumor	http://purl.obolibrary.org/obo/MONDO_0019004	kidney Wilms tumor		Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.
http://purl.obolibrary.org/obo/MONDO_0003318	mixed cell type kidney Wilms' tumor	http://purl.obolibrary.org/obo/MONDO_0019004	kidney Wilms tumor		Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).
http://purl.obolibrary.org/obo/MONDO_0003319	scrotum neoplasm	http://purl.obolibrary.org/obo/MONDO_0024582	male reproductive system neoplasm		A benign or malignant neoplasm that affects the scrotum.
http://purl.obolibrary.org/obo/MONDO_0003320	blastema predominant kidney Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0019004	kidney Wilms tumor		Wilms tumor of the kidney characterized by the predominance of the blastema component.
http://purl.obolibrary.org/obo/MONDO_0003321	hereditary Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0006058	Wilms tumor		Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)
http://purl.obolibrary.org/obo/MONDO_0003322	epithelial predominant Wilms' tumor	http://purl.obolibrary.org/obo/MONDO_0019004	kidney Wilms tumor		Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.
http://purl.obolibrary.org/obo/MONDO_0003325	nodular ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005035	ganglioneuroblastoma		A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.
http://purl.obolibrary.org/obo/MONDO_0003326	intermixed schwannian stroma-rich ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005035	ganglioneuroblastoma		A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.
http://purl.obolibrary.org/obo/MONDO_0003327	peripheral ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005035	ganglioneuroblastoma		A ganglioneuroblastoma arising from the peripheral nervous system.
http://purl.obolibrary.org/obo/MONDO_0003328	fallopian tube adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0004230	adenomatoid tumor		A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.
http://purl.obolibrary.org/obo/MONDO_0003329	ureteral obstruction	http://purl.obolibrary.org/obo/MONDO_0003330	urinary tract obstruction		Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy.
http://purl.obolibrary.org/obo/MONDO_0003330	urinary tract obstruction	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		Blockage of the normal flow of contents of the urinary tract.
http://purl.obolibrary.org/obo/MONDO_0003331	ovarian monodermal teratoma	http://purl.obolibrary.org/obo/MONDO_0005602	ovarian teratoma		A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.
http://purl.obolibrary.org/obo/MONDO_0003332	malignant struma ovarii	http://purl.obolibrary.org/obo/MONDO_0018369	immature ovarian teratoma		An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).
http://purl.obolibrary.org/obo/MONDO_0003333	benign struma ovarii	http://purl.obolibrary.org/obo/MONDO_0006980	struma ovarii		A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.
http://purl.obolibrary.org/obo/MONDO_0003334	demyelinating polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0002562	demyelinating disease		Polyneuropathy that is characterized by demyelination of axons.
http://purl.obolibrary.org/obo/MONDO_0003335	chronic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0001824	polyneuropathy		Polyneuropathy that is persistent or long-standing in nature.
http://purl.obolibrary.org/obo/MONDO_0003336	acute necrotizing encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)
http://purl.obolibrary.org/obo/MONDO_0003337	acute hemorrhagic encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		Acute encephalitis that is characterized by bleeding.
http://purl.obolibrary.org/obo/MONDO_0003340	malignant glomus tumor	http://purl.obolibrary.org/obo/MONDO_0018327	glomus tumor		A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0003341	subungual glomus tumor	http://purl.obolibrary.org/obo/MONDO_0017588	nail tumor		A glomus tumor arising in the finger and usually associated with pain.
http://purl.obolibrary.org/obo/MONDO_0003342	benign perivascular tumor	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.
http://purl.obolibrary.org/obo/MONDO_0003343	retinal hemangioblastoma	http://purl.obolibrary.org/obo/MONDO_0021541	hemangioma of retina		A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.
http://purl.obolibrary.org/obo/MONDO_0003345	hilar cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003210	intrahepatic cholangiocarcinoma		A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.
http://purl.obolibrary.org/obo/MONDO_0003346	central nervous system vasculitis	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		Vasculitis affecting the blood vessels of the brain and/or spinal cord.
http://purl.obolibrary.org/obo/MONDO_0003347	inflammatory leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003348	conventional leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.
http://purl.obolibrary.org/obo/MONDO_0003349	central nervous system leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0037740	malignant central nervous system mesenchymal, non-meningothelial neoplasm		An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003350	granular cell leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003349	central nervous system leiomyosarcoma		An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.
http://purl.obolibrary.org/obo/MONDO_0003351	colon leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003352	colon sarcoma	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0003353	heart leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003354	heart sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.
http://purl.obolibrary.org/obo/MONDO_0003355	ovary leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003356	epithelioid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0003357	lung leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003358	anus leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003379	rectum leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003359	myxoid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0003360	small intestine leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0018506	mesenchymal tumor of small intestine		An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003361	small intestinal sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma.
http://purl.obolibrary.org/obo/MONDO_0003362	cutaneous leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0006414	skin sarcoma		An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003363	malignant dermis tumor	http://purl.obolibrary.org/obo/MONDO_0002898	skin cancer		A malignant neoplasm involving the dermis.
http://purl.obolibrary.org/obo/MONDO_0003364	gallbladder leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003365	esophagus leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003366	hydrarthrosis	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0003367	gastric leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003368	prostate leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003369	vagina leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003370	retroperitoneal leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003371	breast leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003372	vulvar leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005214	vulva sarcoma		An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003373	kidney leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003374	laryngeal leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003376	mediastinum leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003377	extrahepatic bile duct leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0024658	extrahepatic bile duct sarcoma		An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003378	liver leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003379	rectum leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0003381	pituitary gland disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disease involving the pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A disease involving the eyelid.
http://purl.obolibrary.org/obo/MONDO_0003383	fallopian tube clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005004	clear cell adenocarcinoma		A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells.
http://purl.obolibrary.org/obo/MONDO_0003384	uterine ligament clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006135	cervical clear cell adenocarcinoma		A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated.
http://purl.obolibrary.org/obo/MONDO_0003386	bladder clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005004	clear cell adenocarcinoma		A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria.
http://purl.obolibrary.org/obo/MONDO_0003387	urethra clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005004	clear cell adenocarcinoma		A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.
http://purl.obolibrary.org/obo/MONDO_0003388	ampulla of vater clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004081	extrahepatic bile duct clear cell adenocarcinoma		A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.
http://purl.obolibrary.org/obo/MONDO_0003389	epithelial-myoepithelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0003390	glycogen-rich clear cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0045055	glycogen-rich carcinoma		An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen.
http://purl.obolibrary.org/obo/MONDO_0003391	vulvar alveolar soft part sarcoma	http://purl.obolibrary.org/obo/MONDO_0011655	alveolar soft part sarcoma		An alveolar soft part sarcoma arising from the vulva.
http://purl.obolibrary.org/obo/MONDO_0003392	fallopian tube germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0021092	fallopian tube neoplasm		A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.
http://purl.obolibrary.org/obo/MONDO_0003393	thymus gland disorder	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.
http://purl.obolibrary.org/obo/MONDO_0003394	dental pulp disorder	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		A disease involving the dental pulp.
http://purl.obolibrary.org/obo/MONDO_0003395	testicular granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0006036	granulosa cell tumor		A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.
http://purl.obolibrary.org/obo/MONDO_0003396	epulis	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A non-neoplastic nodular lesion that arises from the gingiva.
http://purl.obolibrary.org/obo/MONDO_0003397	gingival hypertrophy	http://purl.obolibrary.org/obo/MONDO_0002507	gingival overgrowth		Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.
http://purl.obolibrary.org/obo/MONDO_0003398	anterograde amnesia	http://purl.obolibrary.org/obo/MONDO_0001152	amnestic disorder		Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)
http://purl.obolibrary.org/obo/MONDO_0003399	pineal region yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003401	central nervous system endodermal sinus tumor		A yolk sac tumor that involves the pineal body.
http://purl.obolibrary.org/obo/MONDO_0003400	childhood endodermal sinus tumor	http://purl.obolibrary.org/obo/MONDO_0005744	yolk sac tumor		A yolk sac tumor that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003401	central nervous system endodermal sinus tumor	http://purl.obolibrary.org/obo/MONDO_0020574	central nervous system nongerminomatous germ cell tumor		A yolk sac tumor that arises from the central nervous system and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0005744	yolk sac tumor		A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.
http://purl.obolibrary.org/obo/MONDO_0003403	testicular non-seminomatous germ cell cancer	http://purl.obolibrary.org/obo/MONDO_0006447	testicular non-seminomatous germ cell tumor		A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.
http://purl.obolibrary.org/obo/MONDO_0003404	adult yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0044878	adult germ cell tumor		A yolk sac tumor that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0003405	adult central nervous system germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0044878	adult germ cell tumor		A germ cell tumor of the central nervous system occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder	http://purl.obolibrary.org/obo/MONDO_0100081	sleep disorder		Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. These can include dyssomnias such as circadian rhythm disorders, hypersomnia, and sleep apnea and parasomnias such as bruxism and rapid eye movement sleep disorder.
http://purl.obolibrary.org/obo/MONDO_0003408	ovarian primitive germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0018171	malignant germ cell tumor of ovary		A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.
http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		Pathological processes in the colon region of the large intestine (intestine, large).
http://purl.obolibrary.org/obo/MONDO_0003410	Wolffian duct adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024888	mesonephric neoplasm		A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0003411	breast hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0005094	hemangiopericytoma		A hemangiopericytoma arising from the breast.
http://purl.obolibrary.org/obo/MONDO_0003412	retroperitoneal hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0024645	retroperitoneal neoplasm		A benign or malignant hemangiopericytoma arising from the retroperitoneum.
http://purl.obolibrary.org/obo/MONDO_0003413	hair follicle neoplasm	http://purl.obolibrary.org/obo/MONDO_0002917	disorder of pilosebaceous unit		A benign or malignant neoplasm arising from the hair follicle.
http://purl.obolibrary.org/obo/MONDO_0003414	skin pilomatrix carcinoma	http://purl.obolibrary.org/obo/MONDO_0006973	skin appendage carcinoma		A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0003419	Bartholin gland adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0003420	bile duct cystadenoma	http://purl.obolibrary.org/obo/MONDO_0006108	bile duct adenoma		An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.
http://purl.obolibrary.org/obo/MONDO_0003421	mixed cell adenoma	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		An adenoma characterized by the presence of a mixed epithelial cell population.
http://purl.obolibrary.org/obo/MONDO_0003422	lung adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.
http://purl.obolibrary.org/obo/MONDO_0003423	middle ear adenoma	http://purl.obolibrary.org/obo/MONDO_0021482	benign neoplasm of middle ear		A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.
http://purl.obolibrary.org/obo/MONDO_0003424	oncocytic adenoma	http://purl.obolibrary.org/obo/MONDO_0010795	oncocytic neoplasm		A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0003425	ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.
http://purl.obolibrary.org/obo/MONDO_0003426	clear cell adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A benign neoplasm composed of glands containing epithelial clear cells.
http://purl.obolibrary.org/obo/MONDO_0003427	bronchus adenoma	http://purl.obolibrary.org/obo/MONDO_0003422	lung adenoma		A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.
http://purl.obolibrary.org/obo/MONDO_0003428	brain hemangioma	http://purl.obolibrary.org/obo/MONDO_0002328	intracranial hemangioma		A hemangioma arising from the brain.
http://purl.obolibrary.org/obo/MONDO_0003429	functioning pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0006373	pituitary gland adenoma		A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.
http://purl.obolibrary.org/obo/MONDO_0003430	prolactin producing pituitary tumor	http://purl.obolibrary.org/obo/MONDO_0017611	pituitary tumor		An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.
http://purl.obolibrary.org/obo/MONDO_0003431	lipoadenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells.
http://purl.obolibrary.org/obo/MONDO_0003432	strabismus	http://purl.obolibrary.org/obo/MONDO_0001584	ocular motility disease		Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
http://purl.obolibrary.org/obo/MONDO_0003433	water-clear cell adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular.
http://purl.obolibrary.org/obo/MONDO_0003434	vaginal adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.
http://purl.obolibrary.org/obo/MONDO_0003435	microcystic adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.
http://purl.obolibrary.org/obo/MONDO_0003437	occult small cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0008433	small cell lung carcinoma		A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.
http://purl.obolibrary.org/obo/MONDO_0003438	combined small cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0008433	small cell lung carcinoma		A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0003439	urinary bladder villous adenoma	http://purl.obolibrary.org/obo/MONDO_0004987	urinary bladder neoplasm		An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0003441	dystonic disorder	http://purl.obolibrary.org/obo/MONDO_0001815	extrapyramidal and movement disease		A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.
http://purl.obolibrary.org/obo/MONDO_0003442	bladder papillary urothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0004987	urinary bladder neoplasm		A papillary epithelial neoplasm that involves the urinary bladder urothelium.
http://purl.obolibrary.org/obo/MONDO_0003443	papillary urothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm		A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003
http://purl.obolibrary.org/obo/MONDO_0003444	intrahepatic bile duct adenoma	http://purl.obolibrary.org/obo/MONDO_0006108	bile duct adenoma		A rare adenoma that arises from the intrahepatic biliary tree.
http://purl.obolibrary.org/obo/MONDO_0003445	extrahepatic bile duct adenoma	http://purl.obolibrary.org/obo/MONDO_0021385	extrahepatic bile duct neoplasm		An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.
http://purl.obolibrary.org/obo/MONDO_0003446	papillary hidradenoma	http://purl.obolibrary.org/obo/MONDO_0002805	hidradenoma		A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative.
http://purl.obolibrary.org/obo/MONDO_0003447	clear cell hidradenoma	http://purl.obolibrary.org/obo/MONDO_0003426	clear cell adenoma		An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells.
http://purl.obolibrary.org/obo/MONDO_0003448	benign spiradenoma	http://purl.obolibrary.org/obo/MONDO_0021489	benign neoplasm of sweat gland		A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.
http://purl.obolibrary.org/obo/MONDO_0003450	eccrine papillary adenoma	http://purl.obolibrary.org/obo/MONDO_0021110	sweat gland adenoma		A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections.
http://purl.obolibrary.org/obo/MONDO_0003452	cochlear disorder	http://purl.obolibrary.org/obo/MONDO_0024654	skull disorder		Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).
http://purl.obolibrary.org/obo/MONDO_0003454	conjunctival cancer	http://purl.obolibrary.org/obo/MONDO_0020204	conjunctival tumor		A malignant neoplasm involving the conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0003455	bile duct papillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0021662	bile duct neoplasm		A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0003458	uterine corpus adenofibroma	http://purl.obolibrary.org/obo/MONDO_0021525	benign neoplasm of corpus uteri		A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.
http://purl.obolibrary.org/obo/MONDO_0003459	cervical adenofibroma	http://purl.obolibrary.org/obo/MONDO_0000644	cervical benign neoplasm		A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.
http://purl.obolibrary.org/obo/MONDO_0003460	clear cell adenofibroma	http://purl.obolibrary.org/obo/MONDO_0006071	adenofibroma		A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0003461	fallopian tube serous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0024886	serous adenofibroma		A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.
http://purl.obolibrary.org/obo/MONDO_0003462	papillary adenofibroma	http://purl.obolibrary.org/obo/MONDO_0006071	adenofibroma		A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0003463	ovarian endometrioid adenofibroma	http://purl.obolibrary.org/obo/MONDO_0000646	ovarian benign neoplasm		A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0003464	cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0006071	adenofibroma		A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.
http://purl.obolibrary.org/obo/MONDO_0003466	spindle cell synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0005067	monophasic synovial sarcoma		A synovial sarcoma characterized by the presence of a spindle cell component only.
http://purl.obolibrary.org/obo/MONDO_0003467	mediastinum synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0010434	synovial sarcoma		A synovial sarcoma arising from the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0003468	biphasic synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0010434	synovial sarcoma		A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.
http://purl.obolibrary.org/obo/MONDO_0003469	epithelioid cell synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0005067	monophasic synovial sarcoma		A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.
http://purl.obolibrary.org/obo/MONDO_0003470	cellular ependymoma	http://purl.obolibrary.org/obo/MONDO_0016698	ependymoma		An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0003471	Pediculus humanus capitis infestation	http://purl.obolibrary.org/obo/MONDO_0003472	lice infestation		A infectious disease involving Pediculus humanus capitis.
http://purl.obolibrary.org/obo/MONDO_0003472	lice infestation	http://purl.obolibrary.org/obo/MONDO_0002875	parasitic ectoparasitic infectious disease		A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.
http://purl.obolibrary.org/obo/MONDO_0003473	spinal cord ependymoma	http://purl.obolibrary.org/obo/MONDO_0021546	ependymal tumor of spinal cord		An ependymoma that arises from the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0003474	tanycytic ependymoma	http://purl.obolibrary.org/obo/MONDO_0016698	ependymoma		A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)
http://purl.obolibrary.org/obo/MONDO_0003475	papillary ependymoma	http://purl.obolibrary.org/obo/MONDO_0016698	ependymoma		A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0003476	clear cell ependymoma	http://purl.obolibrary.org/obo/MONDO_0016698	ependymoma		An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.
http://purl.obolibrary.org/obo/MONDO_0003477	brain stem ependymoma	http://purl.obolibrary.org/obo/MONDO_0016698	ependymoma		An ependymoma that arises from the brain stem.
http://purl.obolibrary.org/obo/MONDO_0003478	childhood ependymoma	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		An ependymoma that arises from the central nervous system and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003479	toxic pneumonitis	http://purl.obolibrary.org/obo/MONDO_0043905	pneumonitis		A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gasses and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.
http://purl.obolibrary.org/obo/MONDO_0003480	pineal region dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0003002	dysgerminoma		A dysgerminoma (disease) that involves the pineal body.
http://purl.obolibrary.org/obo/MONDO_0003481	dysgerminoma of ovary	http://purl.obolibrary.org/obo/MONDO_0003408	ovarian primitive germ cell tumor		A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.
http://purl.obolibrary.org/obo/MONDO_0003482	Pediculus humanus corporis infestation	http://purl.obolibrary.org/obo/MONDO_0003472	lice infestation		A infectious disease involving the Pediculus humanus corporis.
http://purl.obolibrary.org/obo/MONDO_0003486	basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006102	basaloid carcinoma		A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.
http://purl.obolibrary.org/obo/MONDO_0003487	pseudoglandular squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A squamous cell carcinoma characterized by the formation of gland-like structures.
http://purl.obolibrary.org/obo/MONDO_0003490	ampulla of vater squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018509	squamous cell carcinoma of the small intestine		A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0003492	lacrimal gland squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A squamous cell carcinoma that involves the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0003493	thymus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006451	thymic carcinoma		A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.
http://purl.obolibrary.org/obo/MONDO_0003494	ovarian squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005140	ovarian carcinoma		A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0003495	ovarian squamous cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0002532	squamous cell neoplasm		A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor.
http://purl.obolibrary.org/obo/MONDO_0003497	renal pelvis squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005519	renal pelvis carcinoma		A squamous cell carcinoma that involves the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0003499	sarcomatoid squamous cell skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0005056	keratinizing squamous cell carcinoma		A squamous cell carcinoma of the skin with a prominent spindle cell component.
http://purl.obolibrary.org/obo/MONDO_0003500	squamous cell bile duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0018534	squamous cell carcinoma of liver and intrahepatic biliary tract		A squamous cell carcinoma that involves the bile duct.
http://purl.obolibrary.org/obo/MONDO_0003501	external ear squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A squamous cell carcinoma that arises from the skin of the external ear.
http://purl.obolibrary.org/obo/MONDO_0003502	ureter squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006481	ureter carcinoma		A rare squamous cell carcinoma that arises from the ureter.
http://purl.obolibrary.org/obo/MONDO_0003503	fallopian tube squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006206	fallopian tube carcinoma		A rare squamous cell carcinoma that arises from the fallopian tube.
http://purl.obolibrary.org/obo/MONDO_0003504	anal canal neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0007108	anal canal carcinoma		A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/MONDO_0003505	femoral cancer	http://purl.obolibrary.org/obo/MONDO_0021579	neoplasm of femur		A cancer involving a femur.
http://purl.obolibrary.org/obo/MONDO_0003506	pulmonary artery choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0040676	great vessel cancer		A rare choriocarcinoma that arises from a pulmonary artery.
http://purl.obolibrary.org/obo/MONDO_0003507	choriocarcinoma of ovary	http://purl.obolibrary.org/obo/MONDO_0018171	malignant germ cell tumor of ovary		A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0003508	choriocarcinoma of testis	http://purl.obolibrary.org/obo/MONDO_0005207	choriocarcinoma		A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.
http://purl.obolibrary.org/obo/MONDO_0003509	pineal region choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016740	choriocarcinoma of the central nervous system		A choriocarcinoma (disease) that involves the pineal body.
http://purl.obolibrary.org/obo/MONDO_0003510	malignant testicular germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0010108	testicular germ cell tumor		A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.
http://purl.obolibrary.org/obo/MONDO_0003512	mediastinal mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0021386	neoplasm of mediastinum		A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma.
http://purl.obolibrary.org/obo/MONDO_0003513	gastric teratoma	http://purl.obolibrary.org/obo/MONDO_0021085	gastric neoplasm		A mature or immature teratoma that arises from the stomach.
http://purl.obolibrary.org/obo/MONDO_0003514	malignant teratoma	http://purl.obolibrary.org/obo/MONDO_0006290	malignant germ cell tumor		A malignant form of teratoma.
http://purl.obolibrary.org/obo/MONDO_0003515	fallopian tube teratoma	http://purl.obolibrary.org/obo/MONDO_0003392	fallopian tube germ cell tumor		A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.
http://purl.obolibrary.org/obo/MONDO_0003516	adult teratoma	http://purl.obolibrary.org/obo/MONDO_0044878	adult germ cell tumor		A teratoma that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0003517	mature teratoma	http://purl.obolibrary.org/obo/MONDO_0002601	teratoma		A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.
http://purl.obolibrary.org/obo/MONDO_0003518	mediastinum teratoma	http://purl.obolibrary.org/obo/MONDO_0020539	extragonadal non-dysgerminomatous germ cell tumor		A teratoma that involves the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0003519	malignant syringoma	http://purl.obolibrary.org/obo/MONDO_0002206	sweat gland cancer		A malignant form of syringoma.
http://purl.obolibrary.org/obo/MONDO_0003522	male orgasm disorder	http://purl.obolibrary.org/obo/MONDO_0040674	orgasm disorder		Persistent delay or absence in orgasm not accounted for by a medical reason.
http://purl.obolibrary.org/obo/MONDO_0003523	gastrin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0000386	digestive system neuroendocrine tumor, grade 1/2		A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.
http://purl.obolibrary.org/obo/MONDO_0003524	gastric gastrin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015062	gastric neuroendocrine tumor, well differentiated, low or intermediate grade		A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.
http://purl.obolibrary.org/obo/MONDO_0003525	pancreatic gastrin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.
http://purl.obolibrary.org/obo/MONDO_0003528	Volkmann contracture	http://purl.obolibrary.org/obo/MONDO_0020120	skeletal muscle disorder		An ischemic contracture of the forearm that most often occurs secondary to trauma.
http://purl.obolibrary.org/obo/MONDO_0003529	acute pyelonephritis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Sudden onset pyelonephritis.
http://purl.obolibrary.org/obo/MONDO_0003532	breast papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0005590	breast ductal adenocarcinoma		A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0003534	papillary thymic adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003209	thymus gland adenocarcinoma		A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis.
http://purl.obolibrary.org/obo/MONDO_0003535	fallopian tube papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002746	fallopian tube adenocarcinoma		An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0003537	T lymphoblastic leukemia/lymphoma	http://purl.obolibrary.org/obo/MONDO_0024615	T-cell and NK-cell neoplasm		A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0003538	precursor lymphoblastic lymphoma/leukemia	http://purl.obolibrary.org/obo/MONDO_0005157	lymphoid neoplasm		A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003
http://purl.obolibrary.org/obo/MONDO_0003539	T-cell adult acute lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0005525	T-cell leukemia		An acute T-lymphoblastic leukemia occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003541	adult acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0004967	acute lymphoblastic leukemia		An acute lymphoblastic leukemia occurring during adulthood.
http://purl.obolibrary.org/obo/MONDO_0003543	trigeminal nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the trigeminal nerve.
http://purl.obolibrary.org/obo/MONDO_0003544	spinal cord cancer	http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm		A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0003545	intradural extramedullary spinal canal neoplasm	http://purl.obolibrary.org/obo/MONDO_0002713	epidural spinal canal neoplasm		A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.
http://purl.obolibrary.org/obo/MONDO_0003546	third cranial nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the oculomotor nerve.
http://purl.obolibrary.org/obo/MONDO_0003548	adenosquamous breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006074	adenosquamous carcinoma		An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation.
http://purl.obolibrary.org/obo/MONDO_0003549	adenosquamous bile duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0056815	liver adenosquamous carcinoma		An adenosquamous carcinoma that arises from the bile ducts.
http://purl.obolibrary.org/obo/MONDO_0003550	esophageal adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006074	adenosquamous carcinoma		An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components.
http://purl.obolibrary.org/obo/MONDO_0003551	thymic adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006074	adenosquamous carcinoma		A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components.
http://purl.obolibrary.org/obo/MONDO_0003553	ampulla of vater adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006202	extrahepatic bile duct adenosquamous carcinoma		A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0003554	adenosquamous colon carcinoma	http://purl.obolibrary.org/obo/MONDO_0018513	squamous cell carcinoma of colon		An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.
http://purl.obolibrary.org/obo/MONDO_0003555	Bartholin gland adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006074	adenosquamous carcinoma		A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0003556	endometrial adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006198	endometrial squamous cell carcinoma		A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.
http://purl.obolibrary.org/obo/MONDO_0003557	optic nerve sheath meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that affects the sheath of the optic nerve.
http://purl.obolibrary.org/obo/MONDO_0003558	adenosquamous prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_0006074	adenosquamous carcinoma		An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.
http://purl.obolibrary.org/obo/MONDO_0003561	malignant giant cell tumor of soft parts	http://purl.obolibrary.org/obo/MONDO_0002402	malignant giant cell tumor		An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.
http://purl.obolibrary.org/obo/MONDO_0003562	rete testis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021348	neoplasm of testis		A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0003563	diffuse pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0002771	pulmonary fibrosis		Diffuse replacement of the lung tissue by connective tissue.
http://purl.obolibrary.org/obo/MONDO_0003564	localized pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0002771	pulmonary fibrosis		Replacement of the lung tissue by connective tissue in a specific area of the lung.
http://purl.obolibrary.org/obo/MONDO_0003565	urethral villous adenoma	http://purl.obolibrary.org/obo/MONDO_0021239	urethra neoplasm		An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0003568	disorder of optic chiasm	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disease that involves the optic chiasma.
http://purl.obolibrary.org/obo/MONDO_0003569	cranial nerve neuropathy	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.
http://purl.obolibrary.org/obo/MONDO_0003570	lipid-rich carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.
http://purl.obolibrary.org/obo/MONDO_0003572	nasopharyngeal type undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0005232	large cell carcinoma		A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.
http://purl.obolibrary.org/obo/MONDO_0003573	pleomorphic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006406	sarcomatoid carcinoma		A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.
http://purl.obolibrary.org/obo/MONDO_0003574	external ear cancer	http://purl.obolibrary.org/obo/MONDO_0021235	external ear neoplasm		A malignant neoplasm involving the external ear.
http://purl.obolibrary.org/obo/MONDO_0003575	comedocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.
http://purl.obolibrary.org/obo/MONDO_0003578	extragonadal nonseminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020539	extragonadal non-dysgerminomatous germ cell tumor		A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.
http://purl.obolibrary.org/obo/MONDO_0003579	retinal nerve fiber layer disorder	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		A disease that involves the nerve fiber layer of retina.
http://purl.obolibrary.org/obo/MONDO_0003581	ovarian embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0016096	malignant non-dysgerminomatous germ cell tumor of ovary		An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.
http://purl.obolibrary.org/obo/MONDO_0003582	hereditary breast ovarian cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.
http://purl.obolibrary.org/obo/MONDO_0003584	visual cortex disorder	http://purl.obolibrary.org/obo/MONDO_0044996	cerebral cortex disorder		A disease involving the visual cortex.
http://purl.obolibrary.org/obo/MONDO_0003585	adult liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.
http://purl.obolibrary.org/obo/MONDO_0003586	esophagus liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation.
http://purl.obolibrary.org/obo/MONDO_0003587	pediatric liposarcoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.
http://purl.obolibrary.org/obo/MONDO_0003588	larynx liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.
http://purl.obolibrary.org/obo/MONDO_0003589	liposarcoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A malignant adipose tissue neoplasm of the ovary.
http://purl.obolibrary.org/obo/MONDO_0003590	fibroblastic liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A liposarcoma characterized by the presence of a fibroblastic component.
http://purl.obolibrary.org/obo/MONDO_0003591	kidney liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.
http://purl.obolibrary.org/obo/MONDO_0003592	gastric liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A malignant adipose tissue neoplasm of the stomach.
http://purl.obolibrary.org/obo/MONDO_0003593	breast liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A malignant adipose tissue neoplasm of the breast.
http://purl.obolibrary.org/obo/MONDO_0003594	mixed liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.
http://purl.obolibrary.org/obo/MONDO_0003595	sclerosing liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005103	well-differentiated liposarcoma		A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.
http://purl.obolibrary.org/obo/MONDO_0003596	spindle cell liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005103	well-differentiated liposarcoma		A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.
http://purl.obolibrary.org/obo/MONDO_0003598	median nerve neuropathy	http://purl.obolibrary.org/obo/MONDO_0006683	brachial plexus neuropathy		Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).
http://purl.obolibrary.org/obo/MONDO_0003599	vulvar liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005214	vulva sarcoma		A rare malignant adipose tissue neoplasm of the vulva.
http://purl.obolibrary.org/obo/MONDO_0003600	cutaneous liposarcoma	http://purl.obolibrary.org/obo/MONDO_0006414	skin sarcoma		A malignant adipose tissue neoplasm of the skin.
http://purl.obolibrary.org/obo/MONDO_0003601	mediastinum liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum.
http://purl.obolibrary.org/obo/MONDO_0003602	intracranial liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A malignant adipose tissue neoplasm of the intracranial region.
http://purl.obolibrary.org/obo/MONDO_0003603	non-functioning pituitary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021119	non-functioning endocrine neoplasm		A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.
http://purl.obolibrary.org/obo/MONDO_0003604	functioning pituitary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021120	functioning endocrine neoplasm		A hormone producing pituitary gland tumor, associated with a hormonal syndrome.
http://purl.obolibrary.org/obo/MONDO_0003606	adrenal medulla cancer	http://purl.obolibrary.org/obo/MONDO_0021237	adrenal medulla neoplasm		A malignant neoplasm involving the adrenal medulla
http://purl.obolibrary.org/obo/MONDO_0003607	neuritis of upper limb	http://purl.obolibrary.org/obo/MONDO_0002122	neuritis		A neuritis that involves the forelimb.
http://purl.obolibrary.org/obo/MONDO_0003608	optic atrophy	http://purl.obolibrary.org/obo/MONDO_0002135	optic nerve disorder		A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
http://purl.obolibrary.org/obo/MONDO_0003609	seminal vesicle cystadenoma	http://purl.obolibrary.org/obo/MONDO_0002790	seminal vesicle tumor		A rare benign cystadenoma that arises from the seminal vesicle.
http://purl.obolibrary.org/obo/MONDO_0003610	rete ovarii cystadenoma	http://purl.obolibrary.org/obo/MONDO_0005183	ovarian cystadenoma		An exceptionally rare cystadenoma that arises from the rete ovarii.
http://purl.obolibrary.org/obo/MONDO_0003611	uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease	http://purl.obolibrary.org/obo/MONDO_0021091	papillary cystadenoma		A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences.
http://purl.obolibrary.org/obo/MONDO_0003612	uterine ligament cancer	http://purl.obolibrary.org/obo/MONDO_0021629	uterine ligament neoplasm		A primary or metastatic malignant neoplasm that affects the uterine ligament.
http://purl.obolibrary.org/obo/MONDO_0003614	intravenous leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003295	leiomyomatosis		A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.
http://purl.obolibrary.org/obo/MONDO_0003615	nerve compression syndrome	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		Any nerve disorder caused by the entrapment and compression of a nerve.
http://purl.obolibrary.org/obo/MONDO_0003616	salpingitis isthmica nodosa	http://purl.obolibrary.org/obo/MONDO_0003617	chronic salpingitis		Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.
http://purl.obolibrary.org/obo/MONDO_0003617	chronic salpingitis	http://purl.obolibrary.org/obo/MONDO_0003619	salpingitis		Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.
http://purl.obolibrary.org/obo/MONDO_0003618	pyosalpinx	http://purl.obolibrary.org/obo/MONDO_0003619	salpingitis		The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.
http://purl.obolibrary.org/obo/MONDO_0003619	salpingitis	http://purl.obolibrary.org/obo/MONDO_0002156	fallopian tube disorder		Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.
http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A disease involving the peripheral nervous system.
http://purl.obolibrary.org/obo/MONDO_0003621	small intestinal vasoactive intestinal peptide producing tumor	http://purl.obolibrary.org/obo/MONDO_0019960	VIPoma		A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.
http://purl.obolibrary.org/obo/MONDO_0003622	pancreatic vasoactive intestinal peptide producing tumor	http://purl.obolibrary.org/obo/MONDO_0019960	VIPoma		A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome.
http://purl.obolibrary.org/obo/MONDO_0003624	acinic cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004965	acinar cell carcinoma		A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.
http://purl.obolibrary.org/obo/MONDO_0003626	uterine ligament serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003631	cervical serous adenocarcinoma		A rare serous adenocarcinoma that arises from the uterine ligament.
http://purl.obolibrary.org/obo/MONDO_0003627	rheumatic pulmonary valve disease	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		A rheumatologic disorder that involves the pulmonary valve.
http://purl.obolibrary.org/obo/MONDO_0003628	pulmonary valve disorder	http://purl.obolibrary.org/obo/MONDO_0002869	heart valve disorder		A disease involving the pulmonary valve.
http://purl.obolibrary.org/obo/MONDO_0003630	pancreatic serous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024621	serous cystadenocarcinoma		A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain.
http://purl.obolibrary.org/obo/MONDO_0003631	cervical serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005278	serous adenocarcinoma		A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.
http://purl.obolibrary.org/obo/MONDO_0003632	endocervicitis	http://purl.obolibrary.org/obo/MONDO_0002345	cervicitis		Inflammation of the endocervix.
http://purl.obolibrary.org/obo/MONDO_0003633	malignant mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0006854	mesenchymoma		A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.
http://purl.obolibrary.org/obo/MONDO_0003634	proteinuria	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		The presence of abnormal amounts of protein in the urine.
http://purl.obolibrary.org/obo/MONDO_0003635	sebaceous breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006962	sebaceous adenocarcinoma		A very rare breast adenocarcinoma with sebaceous differentiation.
http://purl.obolibrary.org/obo/MONDO_0003636	vulvar sebaceous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006962	sebaceous adenocarcinoma		A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.
http://purl.obolibrary.org/obo/MONDO_0003637	clear cell-sugar-tumor of the lung	http://purl.obolibrary.org/obo/MONDO_0020588	lung PEComa		A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.
http://purl.obolibrary.org/obo/MONDO_0003638	lung meningioma	http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges		A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.
http://purl.obolibrary.org/obo/MONDO_0003639	lung hilum neoplasm	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		A benign or malignant neoplasm that arises from the hilar region of the lung.
http://purl.obolibrary.org/obo/MONDO_0003640	verruciform xanthoma of skin	http://purl.obolibrary.org/obo/MONDO_0005236	xanthoma		A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.
http://purl.obolibrary.org/obo/MONDO_0003641	central nervous system hematopoietic neoplasm	http://purl.obolibrary.org/obo/MONDO_0044881	hematopoietic and lymphoid cell neoplasm		A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.
http://purl.obolibrary.org/obo/MONDO_0003643	giant hemangioma	http://purl.obolibrary.org/obo/MONDO_0003155	cavernous hemangioma		A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0003644	cavernous hemangioma of colon	http://purl.obolibrary.org/obo/MONDO_0003155	cavernous hemangioma		A cavernous hemangioma arising from the colon.
http://purl.obolibrary.org/obo/MONDO_0003645	cavernous hemangioma of face	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		A cavernous hemangioma arising from the face.
http://purl.obolibrary.org/obo/MONDO_0003646	rectum neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0024476	epithelial neoplasm of rectum		A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/MONDO_0003648	tympanic membrane disorder	http://purl.obolibrary.org/obo/MONDO_0003276	middle ear disorder		A disease involving the tympanic membrane.
http://purl.obolibrary.org/obo/MONDO_0003649	esophageal neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021355	neoplasm of esophagus		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus.
http://purl.obolibrary.org/obo/MONDO_0003650	mixed hepatoblastoma	http://purl.obolibrary.org/obo/MONDO_0018666	hepatoblastoma		A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.
http://purl.obolibrary.org/obo/MONDO_0003651	macrotrabecular hepatoblastoma	http://purl.obolibrary.org/obo/MONDO_0018666	hepatoblastoma		A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae.
http://purl.obolibrary.org/obo/MONDO_0003652	acute urate nephropathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Urolithiasis in which the composition of the stones is predominantly urate.
http://purl.obolibrary.org/obo/MONDO_0003654	childhood parosteal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0006817	juxtacortical osteosarcoma		A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.
http://purl.obolibrary.org/obo/MONDO_0003655	cerebral lymphoma	http://purl.obolibrary.org/obo/MONDO_0002731	cerebral hemisphere cancer		A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.
http://purl.obolibrary.org/obo/MONDO_0003656	hemoglobinuria	http://purl.obolibrary.org/obo/MONDO_0003634	proteinuria		A laboratory test result which indicates free hemoglobin in the urine.
http://purl.obolibrary.org/obo/MONDO_0003658	B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0003659	pediatric lymphoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003660	adult lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		A lymphoma that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0003661	breast lymphoma	http://purl.obolibrary.org/obo/MONDO_0007254	breast cancer		A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.
http://purl.obolibrary.org/obo/MONDO_0003663	uterine ligament endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003665	cervical endometrioid adenocarcinoma		A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.
http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0004139	normocytic anemia		Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.
http://purl.obolibrary.org/obo/MONDO_0003665	cervical endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005153	cervical adenocarcinoma		A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.
http://purl.obolibrary.org/obo/MONDO_0003666	fallopian tube endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005026	endometrioid adenocarcinoma		An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.
http://purl.obolibrary.org/obo/MONDO_0003669	testicular seminoma	http://purl.obolibrary.org/obo/MONDO_0003510	malignant testicular germ cell tumor		A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.
http://purl.obolibrary.org/obo/MONDO_0003670	posteroinferior myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.
http://purl.obolibrary.org/obo/MONDO_0003671	septal myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		A myocardial infarction (disease) that involves the cardiac septum.
http://purl.obolibrary.org/obo/MONDO_0003673	apical myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.
http://purl.obolibrary.org/obo/MONDO_0003674	subendocardial myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.
http://purl.obolibrary.org/obo/MONDO_0003675	posterolateral myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.
http://purl.obolibrary.org/obo/MONDO_0003676	inferolateral myocardial infarct	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.
http://purl.obolibrary.org/obo/MONDO_0003678	silent myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.
http://purl.obolibrary.org/obo/MONDO_0003680	periosteal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0000515	bone chondrosarcoma		A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling.
http://purl.obolibrary.org/obo/MONDO_0003681	myxoid chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0008977	chondrosarcoma		A chondrosarcoma characterized by the presence of myxoid changes.
http://purl.obolibrary.org/obo/MONDO_0003682	localized chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0008977	chondrosarcoma		A non-disseminated skeletal or extraskeletal chondrosarcoma.
http://purl.obolibrary.org/obo/MONDO_0003684	clear cell chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0000515	bone chondrosarcoma		A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones.
http://purl.obolibrary.org/obo/MONDO_0003685	retroperitoneal germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0024645	retroperitoneal neoplasm		A germ cell tumor that involves the retroperitoneal space.
http://purl.obolibrary.org/obo/MONDO_0003686	apocrine sweat gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0024467	apocrine sweat gland disorder		A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.
http://purl.obolibrary.org/obo/MONDO_0003687	endocardium cancer	http://purl.obolibrary.org/obo/MONDO_0021378	neoplasm of endocardium		A malignant neoplasm involving the endocardium.
http://purl.obolibrary.org/obo/MONDO_0003688	well differentiated papillary mesothelioma	http://purl.obolibrary.org/obo/MONDO_0005065	mesothelioma		A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.
http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.
http://purl.obolibrary.org/obo/MONDO_0003690	adult anaplastic ependymoma	http://purl.obolibrary.org/obo/MONDO_0016700	anaplastic ependymoma		An anaplastic ependymoma occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003691	childhood malignant mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A malignant mesenchymoma occurring in children.
http://purl.obolibrary.org/obo/MONDO_0003692	adult malignant mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0003633	malignant mesenchymoma		A malignant mesenchymoma occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003693	clear cell cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003464	cystadenofibroma		A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.
http://purl.obolibrary.org/obo/MONDO_0003694	ovarian clear cell cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003695	ovarian clear cell adenofibroma		A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.
http://purl.obolibrary.org/obo/MONDO_0003695	ovarian clear cell adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003460	clear cell adenofibroma		An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.
http://purl.obolibrary.org/obo/MONDO_0003698	penis verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present.
http://purl.obolibrary.org/obo/MONDO_0003699	phobic disorder	http://purl.obolibrary.org/obo/MONDO_0005618	anxiety disorder		An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.
http://purl.obolibrary.org/obo/MONDO_0003700	brachial plexus neoplasm	http://purl.obolibrary.org/obo/MONDO_0006683	brachial plexus neuropathy		A neoplasm (disease) that involves the brachial nerve plexus.
http://purl.obolibrary.org/obo/MONDO_0003701	thyroid gland diffuse sclerosing papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0005075	thyroid gland papillary carcinoma		A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.
http://purl.obolibrary.org/obo/MONDO_0003702	uterus intravascular leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003614	intravenous leiomyomatosis		A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.
http://purl.obolibrary.org/obo/MONDO_0003704	uterine corpus diffuse leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.
http://purl.obolibrary.org/obo/MONDO_0003707	distal biliary tract carcinoma	http://purl.obolibrary.org/obo/MONDO_0003090	extrahepatic bile duct carcinoma		A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.
http://purl.obolibrary.org/obo/MONDO_0003708	extrahepatic bile duct small cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0015072	liver neuroendocrine carcinoma		An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells.
http://purl.obolibrary.org/obo/MONDO_0003709	agoraphobia	http://purl.obolibrary.org/obo/MONDO_0003699	phobic disorder		An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.
http://purl.obolibrary.org/obo/MONDO_0003710	ovarian mixed germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0015864	mixed germ cell tumor		An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.
http://purl.obolibrary.org/obo/MONDO_0003715	bladder urachal carcinoma	http://purl.obolibrary.org/obo/MONDO_0004986	urinary bladder carcinoma		Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer.
http://purl.obolibrary.org/obo/MONDO_0003716	renal pelvis papillary urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0006350	papillary transitional cell carcinoma		A papillary transitional cell carcinoma that arises from the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0003717	renal pelvis papillary tumor	http://purl.obolibrary.org/obo/MONDO_0003719	renal pelvis neoplasm		A papillary tumor originating in the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0003719	renal pelvis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm		A neoplasm (disease) that involves the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0003720	kidney fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
http://purl.obolibrary.org/obo/MONDO_0003721	kidney osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0002930	kidney sarcoma		An osteosarcoma arising from the kidney.
http://purl.obolibrary.org/obo/MONDO_0003722	internal auditory canal meningioma	http://purl.obolibrary.org/obo/MONDO_0024320	inner ear neoplasm		A meningioma that affects the internal auditory canal.
http://purl.obolibrary.org/obo/MONDO_0003724	non-proliferative fibrocystic change of the breast	http://purl.obolibrary.org/obo/MONDO_0005219	breast fibrocystic disease		Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.
http://purl.obolibrary.org/obo/MONDO_0003725	breast adenosis	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis.
http://purl.obolibrary.org/obo/MONDO_0003726	apocrine adenosis of breast	http://purl.obolibrary.org/obo/MONDO_0003725	breast adenosis		Breast adenosis characterized by the presence of extensive apocrine metaplasia.
http://purl.obolibrary.org/obo/MONDO_0003727	animal phobia	http://purl.obolibrary.org/obo/MONDO_0012000	specific phobia		An overwhelming, irrational, and persistent fear of animals.
http://purl.obolibrary.org/obo/MONDO_0003728	breast fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
http://purl.obolibrary.org/obo/MONDO_0003729	aleukemic leukemia cutis	http://purl.obolibrary.org/obo/MONDO_0003730	aleukemic leukemia		Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.
http://purl.obolibrary.org/obo/MONDO_0003730	aleukemic leukemia	http://purl.obolibrary.org/obo/MONDO_0005059	leukemia		A leukemia characterized by the absence of leukemic cells in the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0003731	adult central nervous system teratoma	http://purl.obolibrary.org/obo/MONDO_0003516	adult teratoma		A mature or immature teratoma affecting the central nervous system and occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003732	adult central nervous system mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003733	central nervous system mature teratoma		A central nervous system mature teratoma that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0003733	central nervous system mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003517	mature teratoma		A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0003735	central nervous system immature teratoma	http://purl.obolibrary.org/obo/MONDO_0002718	central nervous system teratoma		A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0003736	cancerophobia	http://purl.obolibrary.org/obo/MONDO_0000600	nosophobia		An overwhelming, irrational, and persistent fear of being diagnosed with cancer.
http://purl.obolibrary.org/obo/MONDO_0003737	malignant testicular Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer		A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0003738	selective IgE deficiency disease	http://purl.obolibrary.org/obo/MONDO_0001342	dysgammaglobulinemia		A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.
http://purl.obolibrary.org/obo/MONDO_0003739	selective immunoglobulin deficiency disease	http://purl.obolibrary.org/obo/MONDO_0002211	B cell deficiency		A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.
http://purl.obolibrary.org/obo/MONDO_0003740	AIDS phobia	http://purl.obolibrary.org/obo/MONDO_0000600	nosophobia		An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.
http://purl.obolibrary.org/obo/MONDO_0003741	juvenile type testicular granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0003395	testicular granulosa cell tumor		A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.
http://purl.obolibrary.org/obo/MONDO_0003742	heart fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
http://purl.obolibrary.org/obo/MONDO_0003743	heart malignant hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		A malignant hemangiopericytoma arising in the heart.
http://purl.obolibrary.org/obo/MONDO_0003744	spindle cell intraocular melanoma	http://purl.obolibrary.org/obo/MONDO_0020663	malignant spindle cell neoplasm		A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.
http://purl.obolibrary.org/obo/MONDO_0003745	choroid spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0003878	malignant choroid melanoma		A spindle cell melanoma that involves the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0003746	ciliary body spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0004188	iris spindle cell melanoma		A spindle cell melanoma that involves the ciliary body.
http://purl.obolibrary.org/obo/MONDO_0003747	telangiectatic glomangioma	http://purl.obolibrary.org/obo/MONDO_0002298	cutaneous glomangioma		A glomus tumor characterized by huge vascular channel formations.
http://purl.obolibrary.org/obo/MONDO_0003748	flying phobia	http://purl.obolibrary.org/obo/MONDO_0012000	specific phobia		An overwhelming, irrational, and persistent fear of traveling in an aircraft.
http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder	http://purl.obolibrary.org/obo/MONDO_0044991	upper digestive tract disorder		A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.
http://purl.obolibrary.org/obo/MONDO_0003750	childhood central nervous system germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003751	childhood germ cell tumor		A germ cell tumor of the central nervous system occurring in children.
http://purl.obolibrary.org/obo/MONDO_0003751	childhood germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		A germ cell tumor that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003752	frontal sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0021483	benign neoplasm of frontal sinus		A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma.
http://purl.obolibrary.org/obo/MONDO_0003753	nasal vestibule squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0021475	benign neoplasm of nasal cavity		A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule.
http://purl.obolibrary.org/obo/MONDO_0003754	Brown-Sequard syndrome	http://purl.obolibrary.org/obo/MONDO_0003757	paraplegia		Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.
http://purl.obolibrary.org/obo/MONDO_0003756	ovarian mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0002229	ovarian epithelial tumor		A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.
http://purl.obolibrary.org/obo/MONDO_0003757	paraplegia	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0003758	childhood testicular germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020577	childhood gonadal germ cell tumor		A germ cell tumor that arises from the testis during childhood.
http://purl.obolibrary.org/obo/MONDO_0003759	childhood ovarian yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0020577	childhood gonadal germ cell tumor		A yolk sac tumor that arises from the ovary and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0003760	pediatric ovarian germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0011366	ovarian germ cell tumor		A germ cell tumor that arises from the ovary and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0003761	leptomeningeal melanoma	http://purl.obolibrary.org/obo/MONDO_0016747	primary melanoma of the central nervous system		A melanoma that arises from leptomeningeal melanocytes.
http://purl.obolibrary.org/obo/MONDO_0003762	malignant leptomeningeal tumor	http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges		A primary or metastatic malignant tumor involving the leptomeninges.
http://purl.obolibrary.org/obo/MONDO_0003763	acute stress disorder	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.
http://purl.obolibrary.org/obo/MONDO_0003764	pediatric leptomeningeal melanoma	http://purl.obolibrary.org/obo/MONDO_0042494	childhood malignant melanoma		A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.
http://purl.obolibrary.org/obo/MONDO_0003765	adult leptomeningeal melanoma	http://purl.obolibrary.org/obo/MONDO_0003761	leptomeningeal melanoma		A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.
http://purl.obolibrary.org/obo/MONDO_0003766	thalamic cancer	http://purl.obolibrary.org/obo/MONDO_0003081	thalamic disorder		A cancer involving a dorsal plus ventral thalamus.
http://purl.obolibrary.org/obo/MONDO_0003767	mitral valve disorder	http://purl.obolibrary.org/obo/MONDO_0002869	heart valve disorder		A disease involving the mitral valve.
http://purl.obolibrary.org/obo/MONDO_0003768	signet ring cell variant cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005092	signet ring cell carcinoma		A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.
http://purl.obolibrary.org/obo/MONDO_0003769	herpetic gastritis	http://purl.obolibrary.org/obo/MONDO_0005794	Herpesviridae infectious disease		Gastritis resulting from herpes virus.
http://purl.obolibrary.org/obo/MONDO_0003770	thoracic spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001279	intraspinal meningioma		A meningioma that arises from the meninges of the thoracic region of the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0003771	jugular foramen meningioma	http://purl.obolibrary.org/obo/MONDO_0024653	skull neoplasm		A meningioma that affects the jugular foramen.
http://purl.obolibrary.org/obo/MONDO_0003772	cerebral meningioma	http://purl.obolibrary.org/obo/MONDO_0850302	intracranial meningioma		A meningioma that affects the cerebral hemispheres.
http://purl.obolibrary.org/obo/MONDO_0003773	intracerebral cystic meningioma	http://purl.obolibrary.org/obo/MONDO_0003772	cerebral meningioma		A cystic meningioma that grows within the cerebral hemispheres.
http://purl.obolibrary.org/obo/MONDO_0003774	cerebral convexity meningioma	http://purl.obolibrary.org/obo/MONDO_0003772	cerebral meningioma		A meningioma that affects the cerebral sulcus.
http://purl.obolibrary.org/obo/MONDO_0003775	lateral ventricle meningioma	http://purl.obolibrary.org/obo/MONDO_0003772	cerebral meningioma		A meningioma that affects the lateral ventricle of the brain.
http://purl.obolibrary.org/obo/MONDO_0003776	renal pelvis inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0021109	inverted urothelial papilloma		A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue.
http://purl.obolibrary.org/obo/MONDO_0003777	renal pelvis urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0021467	benign neoplasm of renal pelvis		A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.
http://purl.obolibrary.org/obo/MONDO_0003778	inborn error of immunity	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A disorder in which the immune system is unable to mount an adequate immune response.
http://purl.obolibrary.org/obo/MONDO_0003780	T-cell immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.
http://purl.obolibrary.org/obo/MONDO_0003781	bronchitis	http://purl.obolibrary.org/obo/MONDO_0021925	tracheobronchitis		An acute or chronic inflammatory process affecting the bronchi.
http://purl.obolibrary.org/obo/MONDO_0003782	uterine corpus epithelioid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016262	leiomyosarcoma of the corpus uteri		A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0003783	lymphopenia	http://purl.obolibrary.org/obo/MONDO_0003785	leukopenia		Reduction in the number of lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0003784	nasal cavity carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004647	in situ carcinoma		A in situ carcinoma that involves the nasal cavity.
http://purl.obolibrary.org/obo/MONDO_0003785	leukopenia	http://purl.obolibrary.org/obo/MONDO_0004805	leukocyte disorder		A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0003786	childhood testicular choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004479	malignant childhood germ cell neoplasm		A choriocarcinoma that arises from the testis during childhood.
http://purl.obolibrary.org/obo/MONDO_0003787	childhood testicular mixed germ cell cancer	http://purl.obolibrary.org/obo/MONDO_0004479	malignant childhood germ cell neoplasm		A malignant mixed germ cell neoplasm that arises from the testis during childhood.
http://purl.obolibrary.org/obo/MONDO_0003788	childhood embryonal testis carcinoma	http://purl.obolibrary.org/obo/MONDO_0006446	testicular embryonal carcinoma		An embryonal carcinoma that arises from the testis during childhood.
http://purl.obolibrary.org/obo/MONDO_0003789	hereditary papillary renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0017884	papillary renal cell carcinoma		A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.
http://purl.obolibrary.org/obo/MONDO_0003790	prostatic urethra urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003791	prostatic urethral cancer		An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.
http://purl.obolibrary.org/obo/MONDO_0003791	prostatic urethral cancer	http://purl.obolibrary.org/obo/MONDO_0004197	male urethral cancer		A male urethral cancer that involves the prostatic urethra.
http://purl.obolibrary.org/obo/MONDO_0003792	ovarian carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0005140	ovarian carcinoma		A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.
http://purl.obolibrary.org/obo/MONDO_0003795	ovarian small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005140	ovarian carcinoma		A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.
http://purl.obolibrary.org/obo/MONDO_0003796	rectum Kaposi sarcoma	http://purl.obolibrary.org/obo/MONDO_0024659	colorectal Kaposi sarcoma		A Kaposi sarcoma arising from the rectum.
http://purl.obolibrary.org/obo/MONDO_0003799	conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0006170	conjunctival disorder		Inflammation of the conjunctiva of the eye.
http://purl.obolibrary.org/obo/MONDO_0003800	conventional malignant hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0009330	hemangiopericytoma, malignant		A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0003801	corneal intraepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021238	cornea neoplasm		A squamous cell intraepithelial neoplasia that involves the cornea.
http://purl.obolibrary.org/obo/MONDO_0003802	cornea cancer	http://purl.obolibrary.org/obo/MONDO_0021238	cornea neoplasm		A malignant neoplasm involving the cornea.
http://purl.obolibrary.org/obo/MONDO_0003803	aortic valve disorder	http://purl.obolibrary.org/obo/MONDO_0045001	cardiac ventricle disorder		A disease involving the aortic valve.
http://purl.obolibrary.org/obo/MONDO_0003805	malignant pericardial mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma		A rare neoplasm of mesothelial origin that arises from the pericardium.
http://purl.obolibrary.org/obo/MONDO_0003806	thyroid hyalinizing trabecular adenoma	http://purl.obolibrary.org/obo/MONDO_0015074	thyroid tumor		A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course.
http://purl.obolibrary.org/obo/MONDO_0003808	mediastinal extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002852	mediastinum sarcoma		An osteosarcoma arising from the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0003809	malignant mediastinum hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0021386	neoplasm of mediastinum		A malignant hemangiopericytoma arising in the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0003810	bladder diffuse clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003386	bladder clear cell adenocarcinoma		A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern.
http://purl.obolibrary.org/obo/MONDO_0003811	ovarian seromucinous tumor	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.
http://purl.obolibrary.org/obo/MONDO_0003812	ovarian endometrial cancer	http://purl.obolibrary.org/obo/MONDO_0018364	malignant epithelial tumor of ovary		A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.
http://purl.obolibrary.org/obo/MONDO_0003813	ovarian papillary tumor	http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm		A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0003816	articular cartilage disorder	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		A disease involving the articular cartilage of joint.
http://purl.obolibrary.org/obo/MONDO_0003818	childhood mature teratoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0003820	mature ovarian teratoma		A mature teratoma that arises from the ovary and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0003819	childhood teratoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0005602	ovarian teratoma		A mature or immature teratoma that arises from the ovary and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0003820	mature ovarian teratoma	http://purl.obolibrary.org/obo/MONDO_0003821	ovarian biphasic or triphasic teratoma		An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.
http://purl.obolibrary.org/obo/MONDO_0003821	ovarian biphasic or triphasic teratoma	http://purl.obolibrary.org/obo/MONDO_0005602	ovarian teratoma		A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.
http://purl.obolibrary.org/obo/MONDO_0003822	non-invasive bladder papillary urothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0003755	urinary tract non-invasive transitional cell neoplasm		A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.
http://purl.obolibrary.org/obo/MONDO_0003824	hereditary kidney oncocytoma	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.
http://purl.obolibrary.org/obo/MONDO_0003825	kidney oncocytoma	http://purl.obolibrary.org/obo/MONDO_0010795	oncocytic neoplasm		A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.
http://purl.obolibrary.org/obo/MONDO_0003826	mediastinum seminoma	http://purl.obolibrary.org/obo/MONDO_0006298	mediastinal malignant germ cell tumor		An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.
http://purl.obolibrary.org/obo/MONDO_0003827	transient hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0016463	syndromic agammaglobulinemia		A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.
http://purl.obolibrary.org/obo/MONDO_0003828	growth hormone-producing pituitary gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0019927	growth hormone-producing pituitary gland neoplasm		A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly.
http://purl.obolibrary.org/obo/MONDO_0003829	chromophil adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0002533	papillary adenoma		A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei.
http://purl.obolibrary.org/obo/MONDO_0003832	complement deficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.
http://purl.obolibrary.org/obo/MONDO_0003834	gastric cardia carcinoma	http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma		A carcinoma that arises from epithelial cells of the cardia of stomach.
http://purl.obolibrary.org/obo/MONDO_0003835	gastric cardia adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005036	gastric adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the cardia of stomach.
http://purl.obolibrary.org/obo/MONDO_0003836	malignant thyroid stimulating hormone producing neoplasm of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003837	TSH producing pituitary tumor		A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.
http://purl.obolibrary.org/obo/MONDO_0003837	TSH producing pituitary tumor	http://purl.obolibrary.org/obo/MONDO_0015074	thyroid tumor		An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.
http://purl.obolibrary.org/obo/MONDO_0003839	ovarian mucinous adenocarcinofibroma	http://purl.obolibrary.org/obo/MONDO_0024282	mucinous ovarian cancer		A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.
http://purl.obolibrary.org/obo/MONDO_0003840	epicardium lipoma	http://purl.obolibrary.org/obo/MONDO_0021508	benign neoplasm of epicardium		A rare benign adipose tissue neoplasm of the epicardium of the heart.
http://purl.obolibrary.org/obo/MONDO_0003841	heart lipoma	http://purl.obolibrary.org/obo/MONDO_0021450	benign neoplasm of heart		A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.
http://purl.obolibrary.org/obo/MONDO_0003842	childhood cerebellar astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0003263	childhood cerebellar neoplasm		Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.
http://purl.obolibrary.org/obo/MONDO_0003843	cerebral hemisphere lipoma	http://purl.obolibrary.org/obo/MONDO_0021497	benign neoplasm of cerebrum		A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0003844	central nervous system lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.
http://purl.obolibrary.org/obo/MONDO_0003845	corpus callosum lipoma	http://purl.obolibrary.org/obo/MONDO_0003843	cerebral hemisphere lipoma		A rare benign adipose tissue neoplasm of the corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0003846	viral esophagitis	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.
http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease	http://purl.obolibrary.org/obo/MONDO_7770009	disease of genetic or genomic mechanism		A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.
http://purl.obolibrary.org/obo/MONDO_0003848	ectopic thymus	http://purl.obolibrary.org/obo/MONDO_0003393	thymus gland disorder		A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.
http://purl.obolibrary.org/obo/MONDO_0003849	clivus chordoma	http://purl.obolibrary.org/obo/MONDO_0002892	skull base chordoma		A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.
http://purl.obolibrary.org/obo/MONDO_0003850	clivus chondroid chordoma	http://purl.obolibrary.org/obo/MONDO_0006145	chondroid chordoma		A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.
http://purl.obolibrary.org/obo/MONDO_0003851	ovarian fetiform teratoma	http://purl.obolibrary.org/obo/MONDO_0003820	mature ovarian teratoma		A rare type of teratoma that arises from the ovary and resembles a malformed fetus.
http://purl.obolibrary.org/obo/MONDO_0003852	ovarian solid teratoma	http://purl.obolibrary.org/obo/MONDO_0003820	mature ovarian teratoma		A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.
http://purl.obolibrary.org/obo/MONDO_0003853	Bartholin gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002829	bartholin gland carcinoma		A carcinoma that arises from glandular epithelial cells of the major vestibular gland.
http://purl.obolibrary.org/obo/MONDO_0003856	adult malignant hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0009330	hemangiopericytoma, malignant		A malignant hemangiopericytoma occurring in the adult population.
http://purl.obolibrary.org/obo/MONDO_0003857	adult intracranial malignant hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0037740	malignant central nervous system mesenchymal, non-meningothelial neoplasm		A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.
http://purl.obolibrary.org/obo/MONDO_0003858	anterior optic tract meningioma	http://purl.obolibrary.org/obo/MONDO_0024648	optic tract meningioma		A meningioma that affects the anterior visual pathway.
http://purl.obolibrary.org/obo/MONDO_0003859	bilateral meningioma of optic nerve	http://purl.obolibrary.org/obo/MONDO_0024648	optic tract meningioma		Meningiomas that affects both optic nerves.
http://purl.obolibrary.org/obo/MONDO_0003860	cerebellopontine angle meningioma	http://purl.obolibrary.org/obo/MONDO_0850302	intracranial meningioma		A meningioma that affects the cerebellopontine angle.
http://purl.obolibrary.org/obo/MONDO_0003861	vulvar eccrine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024240	eccrine carcinoma		An eccrine adenocarcinoma that arises from the sweat glands in the vulva.
http://purl.obolibrary.org/obo/MONDO_0003862	melanotic psammomatous malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0003863	malignant melanocytic neoplasm of the peripheral nerve sheath		A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.
http://purl.obolibrary.org/obo/MONDO_0003863	malignant melanocytic neoplasm of the peripheral nerve sheath	http://purl.obolibrary.org/obo/MONDO_0017827	malignant peripheral nerve sheath tumor		A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.
http://purl.obolibrary.org/obo/MONDO_0003864	chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0004948	B-cell chronic lymphocytic leukemia		An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0003865	acral lentiginous melanoma	http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma		A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.
http://purl.obolibrary.org/obo/MONDO_0003866	liver extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002621	extraosseous osteosarcoma		An osteosarcoma arising from the liver.
http://purl.obolibrary.org/obo/MONDO_0003867	diffuse meningeal melanocytosis	http://purl.obolibrary.org/obo/MONDO_0003222	central nervous system melanocytic neoplasm		A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)
http://purl.obolibrary.org/obo/MONDO_0003868	anterior foramen magnum meningioma	http://purl.obolibrary.org/obo/MONDO_0003109	foramen magnum meningioma		A meningioma that affects the anterior foramen magnum.
http://purl.obolibrary.org/obo/MONDO_0003869	childhood brain stem glioma	http://purl.obolibrary.org/obo/MONDO_0002914	childhood brain stem neoplasm		An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.
http://purl.obolibrary.org/obo/MONDO_0003870	childhood brainstem astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003869	childhood brain stem glioma		An astrocytoma that arises from the brain stem and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003872	ovarian papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0005183	ovarian cystadenoma		A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.
http://purl.obolibrary.org/obo/MONDO_0003873	ovarian surface papilloma	http://purl.obolibrary.org/obo/MONDO_0003813	ovarian papillary tumor		A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary.
http://purl.obolibrary.org/obo/MONDO_0003874	ovarian serous surface papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005211	ovarian serous adenocarcinoma		A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0003875	childhood central nervous system mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003750	childhood central nervous system germ cell tumor		A mature teratoma that arises from the central nervous system during childhood.
http://purl.obolibrary.org/obo/MONDO_0003876	eyelid carcinoma	http://purl.obolibrary.org/obo/MONDO_0021313	eyelid cancer		A carcinoma that arises from epithelial cells of the eyelid.
http://purl.obolibrary.org/obo/MONDO_0003878	malignant choroid melanoma	http://purl.obolibrary.org/obo/MONDO_0006700	choroid cancer		A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.
http://purl.obolibrary.org/obo/MONDO_0003879	ovarian endometrioid adenocarcinofibroma	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0003880	ceruminous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003214	apocrine adenocarcinoma		An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.
http://purl.obolibrary.org/obo/MONDO_0003881	vulvar apocrine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003214	apocrine adenocarcinoma		An apocrine adenocarcinoma that arises from the sweat glands in the vulva.
http://purl.obolibrary.org/obo/MONDO_0003882	central nervous system fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
http://purl.obolibrary.org/obo/MONDO_0003884	lipoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0021462	benign neoplasm of rectum		A benign adipose tissue neoplasm of the rectum.
http://purl.obolibrary.org/obo/MONDO_0003885	colorectal lipoma	http://purl.obolibrary.org/obo/MONDO_0021444	benign neoplasm of large intestine		A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.
http://purl.obolibrary.org/obo/MONDO_0003886	mucinous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003464	cystadenofibroma		A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0003887	ovarian mucinous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0002398	mucinous adenofibroma		A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0003888	childhood testicular mixed embryonal carcinoma and teratoma	http://purl.obolibrary.org/obo/MONDO_0003787	childhood testicular mixed germ cell cancer		A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.
http://purl.obolibrary.org/obo/MONDO_0003889	infiltrating bladder urothelial carcinoma, clear cell variant	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.
http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0040678	infiltrating urothelial carcinoma		An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.
http://purl.obolibrary.org/obo/MONDO_0003891	bladder signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005092	signet ring cell carcinoma		A signet ring cell carcinoma that involves the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0003892	acinar lung adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)
http://purl.obolibrary.org/obo/MONDO_0003893	rete testis adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A benign epithelial neoplasm arising from the rete testis.
http://purl.obolibrary.org/obo/MONDO_0003894	mediastinal melanocytic neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0002558	melanotic neurilemmoma		A melanotic schwannoma that affects the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0003895	periosteal osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0002628	peripheral osteosarcoma		An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.
http://purl.obolibrary.org/obo/MONDO_0003896	breast capillary hemangioma	http://purl.obolibrary.org/obo/MONDO_0003126	breast hemangioma		A capillary hemangioma arising from the breast.
http://purl.obolibrary.org/obo/MONDO_0003897	breast epithelioid hemangioma	http://purl.obolibrary.org/obo/MONDO_0003126	breast hemangioma		A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast.
http://purl.obolibrary.org/obo/MONDO_0003898	pediatric myxoid chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A myxoid chondrosarcoma occurring in children.
http://purl.obolibrary.org/obo/MONDO_0003899	adult myxoid chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003681	myxoid chondrosarcoma		A myxoid chondrosarcoma occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003900	connective tissue disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the connective tissue.
http://purl.obolibrary.org/obo/MONDO_0003901	cerebellar hemangioblastoma	http://purl.obolibrary.org/obo/MONDO_0021499	benign neoplasm of cerebellum		A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).
http://purl.obolibrary.org/obo/MONDO_0003902	brain stem hemangioblastoma	http://purl.obolibrary.org/obo/MONDO_0021507	benign neoplasm of brain stem		A hemangioblastoma that involves the brainstem.
http://purl.obolibrary.org/obo/MONDO_0003903	benign vaginal mixed tumor	http://purl.obolibrary.org/obo/MONDO_0001731	benign vaginal mixed epithelial and mesenchymal neoplasm		A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0003904	lung occult squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005097	squamous cell lung carcinoma		A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.
http://purl.obolibrary.org/obo/MONDO_0003905	ovarian yolk sac tumor, glandular pattern	http://purl.obolibrary.org/obo/MONDO_0006344	ovarian yolk sac tumor		A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.
http://purl.obolibrary.org/obo/MONDO_0003906	ovarian yolk sac tumor, hepatoid pattern	http://purl.obolibrary.org/obo/MONDO_0006344	ovarian yolk sac tumor		A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.
http://purl.obolibrary.org/obo/MONDO_0003907	ovarian yolk sac tumor, polyvesicular vitelline pattern	http://purl.obolibrary.org/obo/MONDO_0006344	ovarian yolk sac tumor		A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.
http://purl.obolibrary.org/obo/MONDO_0003908	clivus meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	skull base meningioma		A meningioma that affects the clivus.
http://purl.obolibrary.org/obo/MONDO_0003909	Bartholin gland adenomyoma	http://purl.obolibrary.org/obo/MONDO_0005635	adenomyoma		A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture.
http://purl.obolibrary.org/obo/MONDO_0003910	mixed cell uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0006486	uveal melanoma		A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.
http://purl.obolibrary.org/obo/MONDO_0003911	ciliary body mixed cell melanoma	http://purl.obolibrary.org/obo/MONDO_0003912	malignant ciliary body melanoma		A mixed cell uveal melanoma that involves the ciliary body.
http://purl.obolibrary.org/obo/MONDO_0003912	malignant ciliary body melanoma	http://purl.obolibrary.org/obo/MONDO_0004064	iris melanoma		A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0003913	choroid mixed cell melanoma	http://purl.obolibrary.org/obo/MONDO_0003910	mixed cell uveal melanoma		A mixed cell uveal melanoma that involves the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0003915	cortical thymoma	http://purl.obolibrary.org/obo/MONDO_0016974	thymoma type B		A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.
http://purl.obolibrary.org/obo/MONDO_0003916	overnutrition	http://purl.obolibrary.org/obo/MONDO_0005137	nutritional disorder		An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.
http://purl.obolibrary.org/obo/MONDO_0003917	heart lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope.
http://purl.obolibrary.org/obo/MONDO_0003918	angiomatous meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.
http://purl.obolibrary.org/obo/MONDO_0003921	posterior foramen magnum meningioma	http://purl.obolibrary.org/obo/MONDO_0003109	foramen magnum meningioma		A meningioma that affects the posterior foramen magnum.
http://purl.obolibrary.org/obo/MONDO_0003922	ovarian clear cell malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0000548	ovarian clear cell cancer		A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0003923	ethmoid sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0021515	benign neoplasm of ethmoidal sinus		A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma.
http://purl.obolibrary.org/obo/MONDO_0003924	adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0036591	adrenal cortex neoplasm		A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)
http://purl.obolibrary.org/obo/MONDO_0003925	ethmoid sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003923	ethmoid sinus Schneiderian papilloma		A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.
http://purl.obolibrary.org/obo/MONDO_0003926	neurilemmoma of the pleura	http://purl.obolibrary.org/obo/MONDO_0021065	pleural neoplasm		A schwannoma that involves the pleura.
http://purl.obolibrary.org/obo/MONDO_0003928	uterine corpus myxoid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016262	leiomyosarcoma of the corpus uteri		A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0003929	vestibular micropapillomatosis	http://purl.obolibrary.org/obo/MONDO_0002194	vestibular papilloma		A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.
http://purl.obolibrary.org/obo/MONDO_0003930	non-invasive bladder urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0005611	bladder transitional cell carcinoma		Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)
http://purl.obolibrary.org/obo/MONDO_0003931	childhood optic tract astrocytoma	http://purl.obolibrary.org/obo/MONDO_0024649	optic tract astrocytoma		An astrocytoma that arises from the visual pathway and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003932	childhood optic nerve glioma	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		A glioma affecting the optic tract and occurring in childhood.
http://purl.obolibrary.org/obo/MONDO_0003933	chest wall bone cancer	http://purl.obolibrary.org/obo/MONDO_0021323	malignant neoplasm of chest wall		An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor.
http://purl.obolibrary.org/obo/MONDO_0003934	breast apocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005590	breast ductal adenocarcinoma		An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles.
http://purl.obolibrary.org/obo/MONDO_0003935	oncocytic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population.
http://purl.obolibrary.org/obo/MONDO_0003936	invasive tubular breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0005606	tubular adenocarcinoma		An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.
http://purl.obolibrary.org/obo/MONDO_0003937	spondylitis	http://purl.obolibrary.org/obo/MONDO_0045002	vertebral disorder		The inflammation of a vertebra.
http://purl.obolibrary.org/obo/MONDO_0003939	muscle tissue disorder	http://purl.obolibrary.org/obo/MONDO_0002081	musculoskeletal system disorder		A disease involving the muscle tissue.
http://purl.obolibrary.org/obo/MONDO_0003940	Kummell disease	http://purl.obolibrary.org/obo/MONDO_0045002	vertebral disorder		A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.
http://purl.obolibrary.org/obo/MONDO_0003943	central nervous system hibernoma	http://purl.obolibrary.org/obo/MONDO_0021168	hibernoma		A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.
http://purl.obolibrary.org/obo/MONDO_0003944	endobronchial leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003293	lung leiomyoma		A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0003945	bone epithelioid hemangioma	http://purl.obolibrary.org/obo/MONDO_0021169	epithelioid hemangioma		A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.
http://purl.obolibrary.org/obo/MONDO_0003946	vaginal villous adenoma	http://purl.obolibrary.org/obo/MONDO_0003434	vaginal adenoma		An adenoma that arises from the vagina and is characterized by a villous architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0003947	hyper-IgM syndrome	http://purl.obolibrary.org/obo/MONDO_0002468	hyperimmunoglobulin syndrome		A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.
http://purl.obolibrary.org/obo/MONDO_0003948	cerebral hemangioma	http://purl.obolibrary.org/obo/MONDO_0021497	benign neoplasm of cerebrum		A hemangioma arising from the cerebral hemisphere.
http://purl.obolibrary.org/obo/MONDO_0003950	nipple carcinoma	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		A carcinoma that arises from epithelial cells of the nipple
http://purl.obolibrary.org/obo/MONDO_0003951	scrotal hemangioma	http://purl.obolibrary.org/obo/MONDO_0021472	benign neoplasm of scrotum		A hemangioma arising from the skin of the scrotum.
http://purl.obolibrary.org/obo/MONDO_0003952	adult central nervous system choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016740	choriocarcinoma of the central nervous system		A choriocarcinoma of the central nervous system that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0003953	pediatric CNS choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016740	choriocarcinoma of the central nervous system		A choriocarcinoma that arises from the central nervous system and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003954	angiokeratoma of Fordyce	http://purl.obolibrary.org/obo/MONDO_0003143	angiokeratoma		An angiokeratoma that is located on the scrotum or vulva.
http://purl.obolibrary.org/obo/MONDO_0003955	juvenile breast papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004253	intraductal breast papillomatosis		A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present.
http://purl.obolibrary.org/obo/MONDO_0003957	adult pineoblastoma	http://purl.obolibrary.org/obo/MONDO_0016722	pineoblastoma		A pineoblastoma occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0003958	childhood central nervous system immature teratoma	http://purl.obolibrary.org/obo/MONDO_0003750	childhood central nervous system germ cell tumor		An immature teratoma that arises from the central nervous system and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0003959	breast large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0003960	pulmonary large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005454	lung neuroendocrine neoplasm		A large cell neuroendocrine carcinoma that involves the lung(s).
http://purl.obolibrary.org/obo/MONDO_0003962	Froelich syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.
http://purl.obolibrary.org/obo/MONDO_0003963	diffuse infiltrative lymphocytosis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.
http://purl.obolibrary.org/obo/MONDO_0003964	myositis ossificans	http://purl.obolibrary.org/obo/MONDO_0021167	myositis disease		A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.
http://purl.obolibrary.org/obo/MONDO_0003965	Capgras syndrome	http://purl.obolibrary.org/obo/MONDO_0004359	delusional disorder		A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.
http://purl.obolibrary.org/obo/MONDO_0003966	testicular monophasic choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003508	choriocarcinoma of testis		A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.
http://purl.obolibrary.org/obo/MONDO_0003967	synchronous multifocal osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0002622	multifocal osteogenic sarcoma		A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0003968	asynchronous multifocal osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0002622	multifocal osteogenic sarcoma		A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.
http://purl.obolibrary.org/obo/MONDO_0003969	amphetamine abuse	http://purl.obolibrary.org/obo/MONDO_0002491	substance abuse		Disorders related or resulting from use of amphetamines.
http://purl.obolibrary.org/obo/MONDO_0003970	gastric fundus carcinoma	http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma		A carcinoma that arises from epithelial cells of the fundus of stomach.
http://purl.obolibrary.org/obo/MONDO_0003971	gastric pylorus carcinoma	http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma		A carcinoma that arises from the pylorus.
http://purl.obolibrary.org/obo/MONDO_0003972	gastric body carcinoma	http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma		A carcinoma that arises from epithelial cells of the body of stomach.
http://purl.obolibrary.org/obo/MONDO_0003973	tubular variant testicular seminoma	http://purl.obolibrary.org/obo/MONDO_0003669	testicular seminoma		A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0003975	Littre gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0021327	carcinoma of urethra		A carcinoma involving a male urethral gland.
http://purl.obolibrary.org/obo/MONDO_0003976	malignant type AB thymoma	http://purl.obolibrary.org/obo/MONDO_0016975	thymoma type AB		A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.
http://purl.obolibrary.org/obo/MONDO_0003978	colon small cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0002882	colon neuroendocrine neoplasm		An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.
http://purl.obolibrary.org/obo/MONDO_0003979	intrahepatic bile duct cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003444	intrahepatic bile duct adenoma		A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0003980	schwannoma of jugular foramen	http://purl.obolibrary.org/obo/MONDO_0024653	skull neoplasm		A rare intracranial schwannoma that affects the jugular foramen.
http://purl.obolibrary.org/obo/MONDO_0003982	bilateral breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.
http://purl.obolibrary.org/obo/MONDO_0003983	synchronous bilateral breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003982	bilateral breast carcinoma		Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.
http://purl.obolibrary.org/obo/MONDO_0003984	internal auditory canal lipoma	http://purl.obolibrary.org/obo/MONDO_0021474	benign neoplasm of ear		A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.
http://purl.obolibrary.org/obo/MONDO_0003985	chest wall lymphoma	http://purl.obolibrary.org/obo/MONDO_0021323	malignant neoplasm of chest wall		A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas.
http://purl.obolibrary.org/obo/MONDO_0003987	lung lymphoma	http://purl.obolibrary.org/obo/MONDO_0008903	lung cancer		A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.
http://purl.obolibrary.org/obo/MONDO_0003988	sternum lymphoma	http://purl.obolibrary.org/obo/MONDO_0017814	primary bone lymphoma		A rare lymphoma that arises from the bone or soft tissue of the sternum.
http://purl.obolibrary.org/obo/MONDO_0003989	polyembryoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0016096	malignant non-dysgerminomatous germ cell tumor of ovary		A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.
http://purl.obolibrary.org/obo/MONDO_0003990	malignant breast myoepithelioma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported.
http://purl.obolibrary.org/obo/MONDO_0003991	villoglandular endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006192	endometrial endometrioid adenocarcinoma		A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.
http://purl.obolibrary.org/obo/MONDO_0003992	childhood botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0003993	childhood vagina botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003994	botryoid-type embryonal rhabdomyosarcoma of the vagina		A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0003994	botryoid-type embryonal rhabdomyosarcoma of the vagina	http://purl.obolibrary.org/obo/MONDO_0016095	vaginal rhabdomyosarcoma		A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0003995	vulvar childhood botryoid-type embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005214	vulva sarcoma		A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0003996	basal ganglia disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disease involving the basal ganglia.
http://purl.obolibrary.org/obo/MONDO_0003997	colon Kaposi sarcoma	http://purl.obolibrary.org/obo/MONDO_0024659	colorectal Kaposi sarcoma		A Kaposi sarcoma arising from the colon.
http://purl.obolibrary.org/obo/MONDO_0003999	juvenile pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0004000	childhood pilocytic astrocytoma		A pilocytic astrocytoma that occurs during adolescence.
http://purl.obolibrary.org/obo/MONDO_0004000	childhood pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016691	pilocytic astrocytoma		A pilocytic astrocytoma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004001	compartment syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space.
http://purl.obolibrary.org/obo/MONDO_0004004	motor nerve neuritis	http://purl.obolibrary.org/obo/MONDO_0002316	motor peripheral neuropathy		Inflammation of the peripheral motor nerves.
http://purl.obolibrary.org/obo/MONDO_0004005	rete ovarii adenoma	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.
http://purl.obolibrary.org/obo/MONDO_0004006	rete ovarii cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003464	cystadenofibroma		An exceptionally rare cystadenofibroma that arises from the rete ovarii.
http://purl.obolibrary.org/obo/MONDO_0004007	breast intraductal proliferative lesion	http://purl.obolibrary.org/obo/MONDO_0002488	intraductal breast neoplasm		A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004008	flat ductal epithelial atypia	http://purl.obolibrary.org/obo/MONDO_0004007	breast intraductal proliferative lesion		A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.
http://purl.obolibrary.org/obo/MONDO_0004009	kidney pelvis sarcomatoid transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005221	renal pelvis urothelial carcinoma		An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features.
http://purl.obolibrary.org/obo/MONDO_0004012	adult botryoid rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002578	botryoid rhabdomyosarcoma		A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0004013	adult vagina botryoid embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004012	adult botryoid rhabdomyosarcoma		A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.
http://purl.obolibrary.org/obo/MONDO_0004014	ethmoid sinus ectopic meningioma	http://purl.obolibrary.org/obo/MONDO_0001764	ethmoidal sinus neoplasm		An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.
http://purl.obolibrary.org/obo/MONDO_0004015	pineal region teratoma	http://purl.obolibrary.org/obo/MONDO_0021232	pineal body neoplasm		A mature or immature teratoma that arises in the pineal region.
http://purl.obolibrary.org/obo/MONDO_0004019	oxyphilic endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006192	endometrial endometrioid adenocarcinoma		A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0004020	mediastinal gray zone lymphoma	http://purl.obolibrary.org/obo/MONDO_0004021	mediastinal malignant lymphoma		A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities.
http://purl.obolibrary.org/obo/MONDO_0004021	mediastinal malignant lymphoma	http://purl.obolibrary.org/obo/MONDO_0005843	mediastinal cancer		A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0004022	parasagittal meningioma	http://purl.obolibrary.org/obo/MONDO_0003772	cerebral meningioma		A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.
http://purl.obolibrary.org/obo/MONDO_0004024	spinal cord neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0003544	spinal cord cancer		A neuroblastoma that affects the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0004026	skin tag	http://purl.obolibrary.org/obo/MONDO_0060765	fibroepithelial polyp		A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.
http://purl.obolibrary.org/obo/MONDO_0004028	small intestinal fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
http://purl.obolibrary.org/obo/MONDO_0004030	ureter transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020654	renal pelvis/ureter urothelial carcinoma		A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.
http://purl.obolibrary.org/obo/MONDO_0004032	ovarian seromucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium.
http://purl.obolibrary.org/obo/MONDO_0004034	eye lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		A lymphoma that involves the eye.
http://purl.obolibrary.org/obo/MONDO_0004035	glomangiomatosis	http://purl.obolibrary.org/obo/MONDO_0003342	benign perivascular tumor		A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.
http://purl.obolibrary.org/obo/MONDO_0004038	dental enamel hypoplasia	http://purl.obolibrary.org/obo/MONDO_0002220	tooth hard tissue disease		Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.
http://purl.obolibrary.org/obo/MONDO_0004040	urinary bladder inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0021109	inverted urothelial papilloma		A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.
http://purl.obolibrary.org/obo/MONDO_0004041	urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0005605	transitional cell papilloma		A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium.
http://purl.obolibrary.org/obo/MONDO_0004042	urethra inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0021109	inverted urothelial papilloma		A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue.
http://purl.obolibrary.org/obo/MONDO_0004043	ureter inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0021109	inverted urothelial papilloma		A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.
http://purl.obolibrary.org/obo/MONDO_0004044	ureter urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0004041	urothelial papilloma		A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter.
http://purl.obolibrary.org/obo/MONDO_0004045	pediatric intraocular retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		Retinoblastoma during childhood that has not spread beyond the eye.
http://purl.obolibrary.org/obo/MONDO_0004046	childhood brain meningioma	http://purl.obolibrary.org/obo/MONDO_0850302	intracranial meningioma		A brain meningioma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004047	sphenoidal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0004048	immature gastric teratoma	http://purl.obolibrary.org/obo/MONDO_0003578	extragonadal nonseminomatous germ cell tumor		A malignant teratoma that arises from the stomach.
http://purl.obolibrary.org/obo/MONDO_0004049	combat disorder	http://purl.obolibrary.org/obo/MONDO_0003763	acute stress disorder		Neurotic reactions to unusual, severe, or overwhelming military stress.
http://purl.obolibrary.org/obo/MONDO_0004050	telangiectatic osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0002629	bone osteosarcoma		An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.
http://purl.obolibrary.org/obo/MONDO_0004052	rectal cloacogenic carcinoma	http://purl.obolibrary.org/obo/MONDO_0018515	squamous cell carcinoma of rectum		A carcinoma that arises from the transitional zone at the junction of the rectum and anus.
http://purl.obolibrary.org/obo/MONDO_0004053	bartholin gland squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002829	bartholin gland carcinoma		A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0004056	bladder papillary urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0006350	papillary transitional cell carcinoma		An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003
http://purl.obolibrary.org/obo/MONDO_0004057	micropapillary variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003
http://purl.obolibrary.org/obo/MONDO_0004058	pancreatic cholera	http://purl.obolibrary.org/obo/MONDO_0001933	endocrine pancreas disorder		A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.
http://purl.obolibrary.org/obo/MONDO_0004059	dentin sensitivity	http://purl.obolibrary.org/obo/MONDO_0002220	tooth hard tissue disease		Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.
http://purl.obolibrary.org/obo/MONDO_0004060	peripheral epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0017387	epithelioid sarcoma		An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.
http://purl.obolibrary.org/obo/MONDO_0004062	intermediate cell type uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0006486	uveal melanoma		Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.
http://purl.obolibrary.org/obo/MONDO_0004063	intermediate cell type iris melanoma	http://purl.obolibrary.org/obo/MONDO_0004064	iris melanoma		Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.
http://purl.obolibrary.org/obo/MONDO_0004064	iris melanoma	http://purl.obolibrary.org/obo/MONDO_0006486	uveal melanoma		A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.
http://purl.obolibrary.org/obo/MONDO_0004065	intermediate cell type choroid melanoma	http://purl.obolibrary.org/obo/MONDO_0004062	intermediate cell type uveal melanoma		Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.
http://purl.obolibrary.org/obo/MONDO_0004066	intermediate cell type ciliary body melanoma	http://purl.obolibrary.org/obo/MONDO_0004063	intermediate cell type iris melanoma		Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.
http://purl.obolibrary.org/obo/MONDO_0004067	gallbladder mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006215	gallbladder adenocarcinoma		An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.
http://purl.obolibrary.org/obo/MONDO_0004069	inborn mitochondrial metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
http://purl.obolibrary.org/obo/MONDO_0004071	childhood cerebral astrocytoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.
http://purl.obolibrary.org/obo/MONDO_0004074	ovarian mucinous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003887	ovarian mucinous adenofibroma		A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0004075	infiltrating lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.
http://purl.obolibrary.org/obo/MONDO_0004076	tendon sheath lipoma	http://purl.obolibrary.org/obo/MONDO_0024876	tendon sheath disorder		A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.
http://purl.obolibrary.org/obo/MONDO_0004077	lumbosacral lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.
http://purl.obolibrary.org/obo/MONDO_0004078	mucinous intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003210	intrahepatic cholangiocarcinoma		An intrahepatic cholangiocarcinoma that produces abundant mucin.
http://purl.obolibrary.org/obo/MONDO_0004079	lung mucous gland adenoma	http://purl.obolibrary.org/obo/MONDO_0003427	bronchus adenoma		A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.
http://purl.obolibrary.org/obo/MONDO_0004080	glottis squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005595	laryngeal squamous cell carcinoma		A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom.
http://purl.obolibrary.org/obo/MONDO_0004081	extrahepatic bile duct clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005004	clear cell adenocarcinoma		A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.
http://purl.obolibrary.org/obo/MONDO_0004082	childhood immature teratoma of ovary	http://purl.obolibrary.org/obo/MONDO_0020577	childhood gonadal germ cell tumor		An immature teratoma that arises from the ovary and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0004083	Borst-Jadassohn intraepidermal carcinoma	http://purl.obolibrary.org/obo/MONDO_0002656	skin carcinoma		A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells.
http://purl.obolibrary.org/obo/MONDO_0004085	choroid epithelioid cell melanoma	http://purl.obolibrary.org/obo/MONDO_0006200	epithelioid cell uveal melanoma		A epithelioid cell melanoma that involves the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0004086	ciliary body epithelioid cell melanoma	http://purl.obolibrary.org/obo/MONDO_0006200	epithelioid cell uveal melanoma		A epithelioid cell melanoma that involves the ciliary body.
http://purl.obolibrary.org/obo/MONDO_0004087	basaloid large cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0006102	basaloid carcinoma		A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.
http://purl.obolibrary.org/obo/MONDO_0004088	cervical basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006143	cervical squamous cell carcinoma		An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0004089	basaloid carcinoma of the penis	http://purl.obolibrary.org/obo/MONDO_0020656	human papillomavirus-related penile squamous cell carcinoma		An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.
http://purl.obolibrary.org/obo/MONDO_0004090	vulvar basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003486	basaloid squamous cell carcinoma		A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0004091	skin basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005056	keratinizing squamous cell carcinoma		A basaloid squamous cell carcinoma that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0004092	thymic basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003493	thymus squamous cell carcinoma		A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.
http://purl.obolibrary.org/obo/MONDO_0004093	esophageal basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005580	esophageal squamous cell carcinoma		A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)
http://purl.obolibrary.org/obo/MONDO_0004094	multiple skull base meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	skull base meningioma		Multiple meningiomas that affect the skull base.
http://purl.obolibrary.org/obo/MONDO_0004095	B-cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0004096	spinal cord dermoid cyst	http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm		A dermoid cyst that involves the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0004098	malignant melanocytic peripheral nerve sheath tumor of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003863	malignant melanocytic neoplasm of the peripheral nerve sheath		A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.
http://purl.obolibrary.org/obo/MONDO_0004099	adult cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0003516	adult teratoma		A cystic teratoma that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0004100	lung mixed small cell and squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005454	lung neuroendocrine neoplasm		A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004101	multicentric papillary thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005075	thyroid gland papillary carcinoma		A papillary carcinoma arising from the thyroid gland from multiple foci.
http://purl.obolibrary.org/obo/MONDO_0004102	columnar cell variant thyroid gland papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0005075	thyroid gland papillary carcinoma		A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells.
http://purl.obolibrary.org/obo/MONDO_0004103	tall cell variant thyroid gland papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0005075	thyroid gland papillary carcinoma		A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present.
http://purl.obolibrary.org/obo/MONDO_0004104	splenic manifestation of hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0018935	hairy cell leukemia		A hairy cell leukemia that involves the spleen.
http://purl.obolibrary.org/obo/MONDO_0004105	childhood epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0017387	epithelioid sarcoma		An epithelioid sarcoma occurring in childhood.
http://purl.obolibrary.org/obo/MONDO_0004106	testicular yolk sac tumor, macrocystic pattern	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.
http://purl.obolibrary.org/obo/MONDO_0004107	splenic manifestation of leukemia	http://purl.obolibrary.org/obo/MONDO_0005966	spleen cancer		A leukemia (disease) that involves the spleen.
http://purl.obolibrary.org/obo/MONDO_0004108	diaphragma sellae meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	skull base meningioma		A meningioma that affects the diaphragma sellae.
http://purl.obolibrary.org/obo/MONDO_0004109	epiglottis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021358	neoplasm of hypopharynx		A benign or malignant neoplasm that affects the epiglottis.
http://purl.obolibrary.org/obo/MONDO_0004110	refractory hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0018935	hairy cell leukemia		Hairy cell leukemia that is resistant to treatment.
http://purl.obolibrary.org/obo/MONDO_0004111	refractory hematologic cancer	http://purl.obolibrary.org/obo/MONDO_0044881	hematopoietic and lymphoid cell neoplasm		A hematologic malignancy that is resistant to treatment.
http://purl.obolibrary.org/obo/MONDO_0004112	radiation cystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		Inflammation of the bladder due to irradiation.
http://purl.obolibrary.org/obo/MONDO_0004114	urinary bladder small cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0004986	urinary bladder carcinoma		A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.
http://purl.obolibrary.org/obo/MONDO_0004116	esophageal small cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0019086	carcinoma of esophagus		An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.
http://purl.obolibrary.org/obo/MONDO_0004117	ampulla of vater small cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0015072	liver neuroendocrine carcinoma		An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0004118	cystitis cystica	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.
http://purl.obolibrary.org/obo/MONDO_0004120	Bartholin gland small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0056816	vulvar neuroendocrine carcinoma		A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0004122	thymus small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020516	thymic neuroendocrine carcinoma		An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.
http://purl.obolibrary.org/obo/MONDO_0004124	prostate stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0044337	stromal sarcoma		A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.
http://purl.obolibrary.org/obo/MONDO_0004125	rectum leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021462	benign neoplasm of rectum		A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0004126	thyroiditis	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.
http://purl.obolibrary.org/obo/MONDO_0004127	lung occult adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.
http://purl.obolibrary.org/obo/MONDO_0004128	lung occult large cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003050	lung large cell carcinoma		A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.
http://purl.obolibrary.org/obo/MONDO_0004129	cloacogenic carcinoma	http://purl.obolibrary.org/obo/MONDO_0007108	anal canal carcinoma		An anal carcinoma arising from the transitional zone of the anal canal.
http://purl.obolibrary.org/obo/MONDO_0004130	anus basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006082	anal squamous cell carcinoma		An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.
http://purl.obolibrary.org/obo/MONDO_0004131	anal verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0027026	Buschke Lowenstein tumor		A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004132	anal canal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0007108	anal canal carcinoma		A squamous cell carcinoma arising from the mucosa of the anal canal.
http://purl.obolibrary.org/obo/MONDO_0004133	pituitary gland mixed eosinophil-basophil adenoma	http://purl.obolibrary.org/obo/MONDO_0006373	pituitary gland adenoma		An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.
http://purl.obolibrary.org/obo/MONDO_0004135	subacute lymphocytic thyroiditis	http://purl.obolibrary.org/obo/MONDO_0001949	acute thyroiditis		Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.
http://purl.obolibrary.org/obo/MONDO_0004136	ovarian endometrioid cystadenoma	http://purl.obolibrary.org/obo/MONDO_0005183	ovarian cystadenoma		A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells.
http://purl.obolibrary.org/obo/MONDO_0004139	normocytic anemia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		Anemia in which the red blood cell volume is normal.
http://purl.obolibrary.org/obo/MONDO_0004140	intermediate malignant teratoma	http://purl.obolibrary.org/obo/MONDO_0003514	malignant teratoma		An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.
http://purl.obolibrary.org/obo/MONDO_0004142	lung combined large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0006167	combined lung carcinoma		A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004143	psammomatous meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.
http://purl.obolibrary.org/obo/MONDO_0004144	fibrous meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.
http://purl.obolibrary.org/obo/MONDO_0004145	meningothelial meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.
http://purl.obolibrary.org/obo/MONDO_0004146	transitional meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.
http://purl.obolibrary.org/obo/MONDO_0004147	noninvasive malignant thymoma	http://purl.obolibrary.org/obo/MONDO_0006456	thymoma		A morphologically malignant thymoma that is entirely confined within the capsule.
http://purl.obolibrary.org/obo/MONDO_0004148	gallbladder papillary neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0006215	gallbladder adenocarcinoma		An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0004150	breast giant fibroadenoma	http://purl.obolibrary.org/obo/MONDO_0002056	breast fibroadenoma		A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.
http://purl.obolibrary.org/obo/MONDO_0004151	spinal meninges cancer	http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges		A malignant neoplasm involving the meninx of spinal cord.
http://purl.obolibrary.org/obo/MONDO_0004152	chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation	http://purl.obolibrary.org/obo/MONDO_0003864	chronic lymphocytic leukemia/small lymphocytic lymphoma		A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years.
http://purl.obolibrary.org/obo/MONDO_0004153	childhood central nervous system embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0018843	embryonal carcinoma of the central nervous system		An embryonal carcinoma that arises from the central nervous system and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004155	adult central nervous system embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0018843	embryonal carcinoma of the central nervous system		A embryonal carcinoma of the central nervous system that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0004156	pancreatic mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005858	mucinous cystadenocarcinoma		A mucinous cystadenocarcinoma that involves the pancreas.
http://purl.obolibrary.org/obo/MONDO_0004158	pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0004156	pancreatic mucinous cystadenocarcinoma		A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component.
http://purl.obolibrary.org/obo/MONDO_0004159	pancreatic non-invasive mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004156	pancreatic mucinous cystadenocarcinoma		A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis.
http://purl.obolibrary.org/obo/MONDO_0004160	female stress incontinence	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.
http://purl.obolibrary.org/obo/MONDO_0004161	uterine corpus apoplectic leiomyoma	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.
http://purl.obolibrary.org/obo/MONDO_0004162	uterine corpus cellular leiomyoma	http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma		A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.
http://purl.obolibrary.org/obo/MONDO_0004163	bladder urachal urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0005611	bladder transitional cell carcinoma		A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium.
http://purl.obolibrary.org/obo/MONDO_0004164	lymphoepithelioma-like acinar prostate adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002493	prostatic acinar adenocarcinoma		A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.
http://purl.obolibrary.org/obo/MONDO_0004165	selective IgD deficiency disease	http://purl.obolibrary.org/obo/MONDO_0003739	selective immunoglobulin deficiency disease		A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.
http://purl.obolibrary.org/obo/MONDO_0004166	hereditary fallopian tube carcinoma	http://purl.obolibrary.org/obo/MONDO_0006206	fallopian tube carcinoma		Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004168	cribriform variant testicular seminoma	http://purl.obolibrary.org/obo/MONDO_0003669	testicular seminoma		A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0004169	premenstrual tension	http://purl.obolibrary.org/obo/MONDO_1060204	menstrual disorder		A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
http://purl.obolibrary.org/obo/MONDO_0004172	uterine corpus adenocarcinofibroma	http://purl.obolibrary.org/obo/MONDO_0002991	adenocarcinofibroma		A adenocarcinofibroma that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0004173	adenocarcinoma of skene gland origin	http://purl.obolibrary.org/obo/MONDO_0001869	paraurethral gland cancer		A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0004174	secretory uterine corpus endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006192	endometrial endometrioid adenocarcinoma		An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.
http://purl.obolibrary.org/obo/MONDO_0004176	childhood extraosseous osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002623	pediatric osteosarcoma		An osteosarcoma arising from the soft tissue, and occurring during childhood.
http://purl.obolibrary.org/obo/MONDO_0004177	benign urethral neoplasm	http://purl.obolibrary.org/obo/MONDO_0021239	urethra neoplasm		Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.
http://purl.obolibrary.org/obo/MONDO_0004178	testicular yolk sac tumor, endodermal sinus pattern	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.
http://purl.obolibrary.org/obo/MONDO_0004180	benign urinary system neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm		A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.
http://purl.obolibrary.org/obo/MONDO_0004181	breast adenomyoepithelial adenosis	http://purl.obolibrary.org/obo/MONDO_0003725	breast adenosis		An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.
http://purl.obolibrary.org/obo/MONDO_0004182	stage IVb bladder cancer	http://purl.obolibrary.org/obo/MONDO_0004986	urinary bladder carcinoma		Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.
http://purl.obolibrary.org/obo/MONDO_0004183	axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		Any nerve disorder affecting the axon of a nerve.
http://purl.obolibrary.org/obo/MONDO_0004184	urethral disorder	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		A disease involving the urethra.
http://purl.obolibrary.org/obo/MONDO_0004185	ovarian serous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0006340	ovarian serous adenofibroma		A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0004186	cranial nodular fasciitis	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0004187	nodular fasciitis	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0004188	iris spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0004064	iris melanoma		A spindle cell melanoma that involves the iris.
http://purl.obolibrary.org/obo/MONDO_0004189	esophageal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005768	gastrointestinal tuberculosis		A tuberculosis that involves the esophagus.
http://purl.obolibrary.org/obo/MONDO_0004190	nephrogenic adenoma of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0004191	nephrogenic adenoma		A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.
http://purl.obolibrary.org/obo/MONDO_0004191	nephrogenic adenoma	http://purl.obolibrary.org/obo/MONDO_0002513	kidney benign neoplasm		So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria.
http://purl.obolibrary.org/obo/MONDO_0004192	urethra cancer	http://purl.obolibrary.org/obo/MONDO_0021239	urethra neoplasm		A malignant neoplasm involving the urethra
http://purl.obolibrary.org/obo/MONDO_0004193	pediatric ovarian dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0020577	childhood gonadal germ cell tumor		A dysgerminoma that arises from the ovary and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0004194	ovarian stromal hyperthecosis	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels.
http://purl.obolibrary.org/obo/MONDO_0004195	thymic dysplasia	http://purl.obolibrary.org/obo/MONDO_0003393	thymus gland disorder		The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.
http://purl.obolibrary.org/obo/MONDO_0004196	rectal sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044937	rectal carcinoma		A biphasic rectal carcinoma with a spindle cell, sarcomatoid component.
http://purl.obolibrary.org/obo/MONDO_0004197	male urethral cancer	http://purl.obolibrary.org/obo/MONDO_0004192	urethra cancer		A cancer involving a male urethra.
http://purl.obolibrary.org/obo/MONDO_0004198	testicular yolk sac tumor, solid pattern	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.
http://purl.obolibrary.org/obo/MONDO_0004199	vulvar keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005056	keratinizing squamous cell carcinoma		A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls.
http://purl.obolibrary.org/obo/MONDO_0004200	superficial urinary bladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0004986	urinary bladder carcinoma		A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade.
http://purl.obolibrary.org/obo/MONDO_0004201	pituitary hypoplasia	http://purl.obolibrary.org/obo/MONDO_0003381	pituitary gland disorder		Incomplete development of the pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0004202	adrenal medulla carcinoma	http://purl.obolibrary.org/obo/MONDO_0003606	adrenal medulla cancer		A carcinoma that arises from epithelial cells of the adrenal medulla
http://purl.obolibrary.org/obo/MONDO_0004203	female urethral cancer	http://purl.obolibrary.org/obo/MONDO_0004192	urethra cancer		A cancer that involves the female urethra.
http://purl.obolibrary.org/obo/MONDO_0004204	squamous cell skin papilloma	http://purl.obolibrary.org/obo/MONDO_0002536	skin papilloma		A squamous papilloma that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0004206	pulmonary vein leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0040676	great vessel cancer		An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0004207	pulmonary artery leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0040676	great vessel cancer		An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0004208	superior vena cava leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0004209	cerebral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0003145	supratentorial primitive neuroectodermal tumor		A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.
http://purl.obolibrary.org/obo/MONDO_0004210	colonic L-cell glucagon-like peptide producing tumor	http://purl.obolibrary.org/obo/MONDO_0015067	neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor		A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.
http://purl.obolibrary.org/obo/MONDO_0004211	L-cell glucagon-like peptide-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0000386	digestive system neuroendocrine tumor, grade 1/2		A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.
http://purl.obolibrary.org/obo/MONDO_0004212	vulvar keratoacanthoma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0024609	vulvar squamous cell carcinoma		A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor.
http://purl.obolibrary.org/obo/MONDO_0004213	vulvar non-keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0024609	vulvar squamous cell carcinoma		A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.
http://purl.obolibrary.org/obo/MONDO_0004214	ovarian endometrioid cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003464	cystadenofibroma		A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0004215	cutaneous anthrax	http://purl.obolibrary.org/obo/MONDO_0005119	anthrax infection		An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.
http://purl.obolibrary.org/obo/MONDO_0004216	pineal region germinoma	http://purl.obolibrary.org/obo/MONDO_0002214	brain germinoma		A germinoma that arises from the pineal gland.
http://purl.obolibrary.org/obo/MONDO_0004217	childhood brain germinoma	http://purl.obolibrary.org/obo/MONDO_0004452	childhood central nervous system germinoma		A germinoma arising from the brain during childhood.
http://purl.obolibrary.org/obo/MONDO_0004218	childhood germ cell brain tumor	http://purl.obolibrary.org/obo/MONDO_0003750	childhood central nervous system germ cell tumor		A germ cell tumor arising from brain during childhood.
http://purl.obolibrary.org/obo/MONDO_0004219	polyvesicular vitelline pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.
http://purl.obolibrary.org/obo/MONDO_0004220	endometrial endometrioid adenocarcinoma with spindled epithelial cells	http://purl.obolibrary.org/obo/MONDO_0006192	endometrial endometrioid adenocarcinoma		A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0004221	uterine corpus perivascular epithelioid cell tumor	http://purl.obolibrary.org/obo/MONDO_0006359	neoplasm with perivascular epithelioid cell differentiation		A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.
http://purl.obolibrary.org/obo/MONDO_0004222	ovarian clear cell cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006045	ovarian clear cell adenocarcinoma		A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.
http://purl.obolibrary.org/obo/MONDO_0004223	polyp of middle ear	http://purl.obolibrary.org/obo/MONDO_0021366	neoplasm of middle ear		A benign polypoid growth in the middle ear.
http://purl.obolibrary.org/obo/MONDO_0004225	monoclonal gammopathy of uncertain significance	http://purl.obolibrary.org/obo/MONDO_0004960	monoclonal gammopathy		A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.
http://purl.obolibrary.org/obo/MONDO_0004227	epididymal adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0021473	benign neoplasm of epididymis		A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.
http://purl.obolibrary.org/obo/MONDO_0004229	acantholytic variant squamous cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006056	squamous cell breast carcinoma		A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.
http://purl.obolibrary.org/obo/MONDO_0004230	adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0005065	mesothelioma		A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.
http://purl.obolibrary.org/obo/MONDO_0004231	spindle cell variant squamous cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0021663	sarcomatoid squamous cell carcinoma		A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.
http://purl.obolibrary.org/obo/MONDO_0004232	large cell keratinizing variant squamous cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006056	squamous cell breast carcinoma		A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.
http://purl.obolibrary.org/obo/MONDO_0004233	childhood pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0017386	pleomorphic rhabdomyosarcoma		A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.
http://purl.obolibrary.org/obo/MONDO_0004234	chronic lymphoproliferative disorder of NK-cells	http://purl.obolibrary.org/obo/MONDO_0005169	neoplasm of mature T-cells or NK-cells		An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.
http://purl.obolibrary.org/obo/MONDO_0004235	diverticulitis	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.
http://purl.obolibrary.org/obo/MONDO_0004236	duodenal somatostatinoma	http://purl.obolibrary.org/obo/MONDO_0015063	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade		A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures.
http://purl.obolibrary.org/obo/MONDO_0004237	large cell carcinoma with rhabdoid phenotype	http://purl.obolibrary.org/obo/MONDO_0003050	lung large cell carcinoma		A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.
http://purl.obolibrary.org/obo/MONDO_0004238	petrous apex meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that affects the petrous apex.
http://purl.obolibrary.org/obo/MONDO_0004239	cervical keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006143	cervical squamous cell carcinoma		A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.
http://purl.obolibrary.org/obo/MONDO_0004240	posterior urethra cancer	http://purl.obolibrary.org/obo/MONDO_0004192	urethra cancer		A malignant neoplasm that affects the portion of the urethra that is close to the bladder.
http://purl.obolibrary.org/obo/MONDO_0004241	Osgood-Schlatter disease	http://purl.obolibrary.org/obo/MONDO_0018381	osteochondrosis		Osteochondrosis of the growth plate near the tibial tuberosity.
http://purl.obolibrary.org/obo/MONDO_0004243	vulvar proximal-type epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0005214	vulva sarcoma		An epithelioid sarcoma of the proximal type involving the vulva.
http://purl.obolibrary.org/obo/MONDO_0004244	proximal-type epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0017387	epithelioid sarcoma		An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.
http://purl.obolibrary.org/obo/MONDO_0004245	ependymal tumor of brain	http://purl.obolibrary.org/obo/MONDO_0005499	brain glioma		A tumor arising from the ependymal lining of the ventricles.
http://purl.obolibrary.org/obo/MONDO_0004247	peptic ulcer disease	http://purl.obolibrary.org/obo/MONDO_0043839	ulcer disease		A digestive system disease characterized by discontinuation in the inner lining of the gastrointestinal (GI) tract because of gastric acid secretion or pepsin.
http://purl.obolibrary.org/obo/MONDO_0004248	pediatric infratentorial ependymoma	http://purl.obolibrary.org/obo/MONDO_0020685	infratentorial ependymal tumor		An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004249	pediatric supratentorial ependymoma	http://purl.obolibrary.org/obo/MONDO_0020687	supratentorial ependymal tumor		An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004250	extrahepatic bile duct papillary adenoma	http://purl.obolibrary.org/obo/MONDO_0003455	bile duct papillary neoplasm		An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.
http://purl.obolibrary.org/obo/MONDO_0004251	small intestine neoplasm	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0004252	small intestinal L-cell glucagon-like peptide producing tumor	http://purl.obolibrary.org/obo/MONDO_0004211	L-cell glucagon-like peptide-producing neuroendocrine tumor		A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.
http://purl.obolibrary.org/obo/MONDO_0004253	intraductal breast papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021099	intraductal papillomatosis		A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts.
http://purl.obolibrary.org/obo/MONDO_0004255	Wolffian adnexal tumor	http://purl.obolibrary.org/obo/MONDO_0021629	uterine ligament neoplasm		A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.
http://purl.obolibrary.org/obo/MONDO_0004256	lumbar spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001279	intraspinal meningioma		A meningioma that arises from the meninges of the lumbar region of the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0004257	childhood central nervous system mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0016742	mixed germ cell tumor of central nervous system		A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004258	female orgasmic disorder	http://purl.obolibrary.org/obo/MONDO_0040674	orgasm disorder		A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.
http://purl.obolibrary.org/obo/MONDO_0004259	endocervical carcinoma	http://purl.obolibrary.org/obo/MONDO_0021309	malignant neoplasm of endocervix		A carcinoma that arises from epithelial cells of the endocervix.
http://purl.obolibrary.org/obo/MONDO_0004260	peptic ulcer perforation	http://purl.obolibrary.org/obo/MONDO_0004247	peptic ulcer disease		Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.
http://purl.obolibrary.org/obo/MONDO_0004261	periductal breast myoepitheliosis	http://purl.obolibrary.org/obo/MONDO_0004262	breast myoepitheliosis		A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.
http://purl.obolibrary.org/obo/MONDO_0004262	breast myoepitheliosis	http://purl.obolibrary.org/obo/MONDO_0002483	breast myoepithelial tumor		A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts.
http://purl.obolibrary.org/obo/MONDO_0004263	pediatric infratentorial ependymoblastoma	http://purl.obolibrary.org/obo/MONDO_0016715	ependymoblastoma		An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0004265	acute endometritis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.
http://purl.obolibrary.org/obo/MONDO_0004266	anal gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002652	anus adenocarcinoma		An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.
http://purl.obolibrary.org/obo/MONDO_0004267	squamous papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021098	papillomatosis		A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site.
http://purl.obolibrary.org/obo/MONDO_0004270	breast ductal adenoma	http://purl.obolibrary.org/obo/MONDO_0002058	breast adenoma		A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor.
http://purl.obolibrary.org/obo/MONDO_0004271	pregnancy adenoma	http://purl.obolibrary.org/obo/MONDO_0002058	breast adenoma		A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.
http://purl.obolibrary.org/obo/MONDO_0004272	urinary bladder tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		A tuberculosis that involves the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0004273	breast apocrine adenoma	http://purl.obolibrary.org/obo/MONDO_0021110	sweat gland adenoma		A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia.
http://purl.obolibrary.org/obo/MONDO_0004274	mixed epithelial/mesenchymal metaplastic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006043	metaplastic breast carcinoma		An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.
http://purl.obolibrary.org/obo/MONDO_0004275	osteosarcoma arising in bone Paget disease	http://purl.obolibrary.org/obo/MONDO_0021165	Paget disease		A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0004276	ceruminoma	http://purl.obolibrary.org/obo/MONDO_0002804	apocrine adenoma		A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0004277	gonorrhea	http://purl.obolibrary.org/obo/MONDO_0005323	bacterial sexually transmitted disease		A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease.
http://purl.obolibrary.org/obo/MONDO_0004278	infiltrating bladder urothelial carcinoma sarcomatoid variant	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.
http://purl.obolibrary.org/obo/MONDO_0004279	glossopharyngeal motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0002639	glossopharyngeal nerve disorder		Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)
http://purl.obolibrary.org/obo/MONDO_0004281	vulvar eccrine porocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006189	eccrine porocarcinoma		An eccrine porocarcinoma that arises from the sweat glands in the vulva.
http://purl.obolibrary.org/obo/MONDO_0004283	vulvar clear cell hidradenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006245	hidradenocarcinoma		A vulvar sweat gland carcinoma characterized by the presence of clear cells.
http://purl.obolibrary.org/obo/MONDO_0004285	pancreatic intraductal papillary-mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0005192	exocrine pancreatic carcinoma		A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations.
http://purl.obolibrary.org/obo/MONDO_0004286	pancreatic intraductal papillary-mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0002116	malignant exocrine pancreas neoplasm		A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0004287	pancreatic foamy gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005184	pancreatic ductal adenocarcinoma		A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0004288	scirrhous breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004953	invasive ductal breast carcinoma		An infiltrating ductal breast carcinoma associated with stromal fibrosis.
http://purl.obolibrary.org/obo/MONDO_0004289	glottis verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004080	glottis squamous cell carcinoma		An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness.
http://purl.obolibrary.org/obo/MONDO_0004290	subglottis verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004291	subglottis squamous cell carcinoma		An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx.
http://purl.obolibrary.org/obo/MONDO_0004291	subglottis squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005595	laryngeal squamous cell carcinoma		A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0004292	supraglottis verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004293	supraglottis squamous cell carcinoma		An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx.
http://purl.obolibrary.org/obo/MONDO_0004293	supraglottis squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005595	laryngeal squamous cell carcinoma		A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue.
http://purl.obolibrary.org/obo/MONDO_0004294	gestational ovarian choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016096	malignant non-dysgerminomatous germ cell tumor of ovary		A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.
http://purl.obolibrary.org/obo/MONDO_0004295	asbestos-related lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0005138	lung carcinoma		A carcinoma arising in the lung due to exposure to asbestos.
http://purl.obolibrary.org/obo/MONDO_0004296	cervical lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0006143	cervical squamous cell carcinoma		A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate.
http://purl.obolibrary.org/obo/MONDO_0004297	lymphoepithelioma-like thymic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006451	thymic carcinoma		A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection.
http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		A disease involving the stomach.
http://purl.obolibrary.org/obo/MONDO_0004301	fibrosarcomatous osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002631	conventional osteosarcoma		A conventional osteosarcoma characterized by the presence of spindle shaped cells.
http://purl.obolibrary.org/obo/MONDO_0004302	chief cell adenoma	http://purl.obolibrary.org/obo/MONDO_0006890	parathyroid gland adenoma		A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei.
http://purl.obolibrary.org/obo/MONDO_0004303	parathyroid gland clear cell adenoma	http://purl.obolibrary.org/obo/MONDO_0006890	parathyroid gland adenoma		A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0004304	mixed cell type adenoma of parathyroid	http://purl.obolibrary.org/obo/MONDO_0006890	parathyroid gland adenoma		A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells).
http://purl.obolibrary.org/obo/MONDO_0004305	parathyroid oncocytic adenoma	http://purl.obolibrary.org/obo/MONDO_0006890	parathyroid gland adenoma		A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0004306	childhood intracortical osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002631	conventional osteosarcoma		A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.
http://purl.obolibrary.org/obo/MONDO_0004307	sarcomatosis of the meninges	http://purl.obolibrary.org/obo/MONDO_0004309	sarcomatosis		A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.
http://purl.obolibrary.org/obo/MONDO_0004308	meningeal sarcoma	http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges		A rare sarcoma arising from the meninges.
http://purl.obolibrary.org/obo/MONDO_0004309	sarcomatosis	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		The occurrence of several sarcomas in different anatomic locations.
http://purl.obolibrary.org/obo/MONDO_0004310	adult embryonal tumor with multilayered rosettes, c19mc-altered	http://purl.obolibrary.org/obo/MONDO_0016715	ependymoblastoma		An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0004311	carcinoma of Cowper glands	http://purl.obolibrary.org/obo/MONDO_0005836	male reproductive organ cancer		A carcinoma that involves the bulbo-urethral gland.
http://purl.obolibrary.org/obo/MONDO_0004312	suprasellar meningioma	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		A meningioma that affects the suprasellar region.
http://purl.obolibrary.org/obo/MONDO_0004313	gasserian ganglion meningioma	http://purl.obolibrary.org/obo/MONDO_0021260	sensory ganglionopathy		A meningioma that affects the trigeminal ganglion.
http://purl.obolibrary.org/obo/MONDO_0004315	cholangiolocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		An intrahepatic cholangiocarcinoma that arises from the canals of Hering.
http://purl.obolibrary.org/obo/MONDO_0004316	acantholytic squamous cell skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0005056	keratinizing squamous cell carcinoma		A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis.
http://purl.obolibrary.org/obo/MONDO_0004317	multiple spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001279	intraspinal meningioma		Multiple meningiomas that arises from the spinal meninges.
http://purl.obolibrary.org/obo/MONDO_0004318	pulmonary type ovarian small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003795	ovarian small cell carcinoma		An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung.
http://purl.obolibrary.org/obo/MONDO_0004319	hypercalcemic type ovarian small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003795	ovarian small cell carcinoma		An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.
http://purl.obolibrary.org/obo/MONDO_0004321	endometrial mixed adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005461	endometrium adenocarcinoma		An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.
http://purl.obolibrary.org/obo/MONDO_0004322	non-gestational ovarian choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003507	choriocarcinoma of ovary		A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0004323	muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0005336	myopathy		The loss of muscle tissue due to inactivity or disease.
http://purl.obolibrary.org/obo/MONDO_0004324	testicular fibroma	http://purl.obolibrary.org/obo/MONDO_0005167	fibroma		A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.
http://purl.obolibrary.org/obo/MONDO_0004325	testicular thecoma	http://purl.obolibrary.org/obo/MONDO_0003125	testicular sex cord-stromal neoplasm		A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0004326	sphenoid sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004327	sphenoid sinus Schneiderian papilloma		A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.
http://purl.obolibrary.org/obo/MONDO_0004327	sphenoid sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0021477	benign neoplasm of sphenoidal sinus		A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma.
http://purl.obolibrary.org/obo/MONDO_0004328	maxillary sinus adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.
http://purl.obolibrary.org/obo/MONDO_0004329	pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia	http://purl.obolibrary.org/obo/MONDO_0004286	pancreatic intraductal papillary-mucinous neoplasm		A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.
http://purl.obolibrary.org/obo/MONDO_0004330	leptomeningeal sarcoma	http://purl.obolibrary.org/obo/MONDO_0004308	meningeal sarcoma		A sarcoma arising from the leptomeninges.
http://purl.obolibrary.org/obo/MONDO_0004331	bladder urachal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003715	bladder urachal carcinoma		A adenocarcinoma that involves the urachus.
http://purl.obolibrary.org/obo/MONDO_0004332	lung hilum cancer	http://purl.obolibrary.org/obo/MONDO_0008903	lung cancer		A malignant neoplasm involving the lung hilus.
http://purl.obolibrary.org/obo/MONDO_0004333	pancreatic ACTH-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0023206	functional pancreatic neuroendocrine tumor		A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0004334	non-functional pancreatic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021119	non-functioning endocrine neoplasm		A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.
http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease or disorder that involves the digestive system.
http://purl.obolibrary.org/obo/MONDO_0004336	rectal signet ring cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0044336	colorectal signet ring cell carcinoma		An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.
http://purl.obolibrary.org/obo/MONDO_0004337	perianal skin Paget disease	http://purl.obolibrary.org/obo/MONDO_0002941	anal margin carcinoma		Paget disease involving the perianal skin.
http://purl.obolibrary.org/obo/MONDO_0004339	tuberculum sellae meningioma	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		A meningioma that affects the tuberculum sellae.
http://purl.obolibrary.org/obo/MONDO_0004340	mixed ductal-endocrine carcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0005184	pancreatic ductal adenocarcinoma		A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.
http://purl.obolibrary.org/obo/MONDO_0004341	colloid carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0005184	pancreatic ductal adenocarcinoma		An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.
http://purl.obolibrary.org/obo/MONDO_0004343	pancreatic acinar cell cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006346	pancreatic acinar cell carcinoma		A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0004344	childhood malignant hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0009330	hemangiopericytoma, malignant		A malignant hemangiopericytoma occurring in childhood.
http://purl.obolibrary.org/obo/MONDO_0004345	childhood malignant schwannoma	http://purl.obolibrary.org/obo/MONDO_0017827	malignant peripheral nerve sheath tumor		A malignant peripheral nerve sheath tumor occurring in children.
http://purl.obolibrary.org/obo/MONDO_0004346	signet ring cell intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003210	intrahepatic cholangiocarcinoma		An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.
http://purl.obolibrary.org/obo/MONDO_0004349	retina lymphoma	http://purl.obolibrary.org/obo/MONDO_0004034	eye lymphoma		A lymphoma that involves the retina.
http://purl.obolibrary.org/obo/MONDO_0004350	pediatric extraocular retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		Retinoblastoma during childhood that has spread beyond the eye.
http://purl.obolibrary.org/obo/MONDO_0004351	intraocular lymphoma	http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma		A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters.
http://purl.obolibrary.org/obo/MONDO_0004352	adult brain ependymoma	http://purl.obolibrary.org/obo/MONDO_0004245	ependymal tumor of brain		An ependymoma of the brain occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0004353	extrahepatic biliary papillomatosis	http://purl.obolibrary.org/obo/MONDO_0003455	bile duct papillary neoplasm		A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0004354	neonatal leukemia	http://purl.obolibrary.org/obo/MONDO_0004355	childhood leukemia		Leukemia that occurs during the neonatal period.
http://purl.obolibrary.org/obo/MONDO_0004355	childhood leukemia	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		An acute or chronic leukemia that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004356	childhood multilocular cystic kidney neoplasm	http://purl.obolibrary.org/obo/MONDO_0002730	childhood kidney neoplasm		A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.
http://purl.obolibrary.org/obo/MONDO_0004357	carcinoma of supraglottis	http://purl.obolibrary.org/obo/MONDO_0002358	laryngeal carcinoma		A carcinoma of the larynx that arises from the supraglottic area.
http://purl.obolibrary.org/obo/MONDO_0004358	subglottis carcinoma	http://purl.obolibrary.org/obo/MONDO_0002358	laryngeal carcinoma		A carcinoma of the larynx that arises from the subglottic area.
http://purl.obolibrary.org/obo/MONDO_0004359	delusional disorder	http://purl.obolibrary.org/obo/MONDO_0005485	psychotic disorder		A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).
http://purl.obolibrary.org/obo/MONDO_0004360	breast extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002621	extraosseous osteosarcoma		An osteosarcoma arising from the breast tissue.
http://purl.obolibrary.org/obo/MONDO_0004361	adult spinal cord ependymoma	http://purl.obolibrary.org/obo/MONDO_0003473	spinal cord ependymoma		An ependymoma of the spinal cord occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0004363	adult spinal cord glioblastoma	http://purl.obolibrary.org/obo/MONDO_0020690	adult glioblastoma		A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)
http://purl.obolibrary.org/obo/MONDO_0004365	necrotic uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0006486	uveal melanoma		A uveal melanoma characterized by the presence of tumor cell necrosis.
http://purl.obolibrary.org/obo/MONDO_0004366	mixed astrocytoma-ependymoma-oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0003268	mixed glioma		A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.
http://purl.obolibrary.org/obo/MONDO_0004367	petroclival meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	skull base meningioma		A meningioma that affects the petroclival region.
http://purl.obolibrary.org/obo/MONDO_0004368	sphenoorbital meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	skull base meningioma		A meningioma that affects the sphenoorbital region.
http://purl.obolibrary.org/obo/MONDO_0004369	renal infectious disease	http://purl.obolibrary.org/obo/MONDO_0100338	urinary tract infection		An infectious disease that involves the kidney.
http://purl.obolibrary.org/obo/MONDO_0004370	sphenocavernous meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	skull base meningioma		A meningioma that affects the sphenocavernous region.
http://purl.obolibrary.org/obo/MONDO_0004371	spinal multifocal clear cell meningioma	http://purl.obolibrary.org/obo/MONDO_0002918	clear cell meningioma		A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.
http://purl.obolibrary.org/obo/MONDO_0004372	chronic toxic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0003335	chronic polyneuropathy		Neuropathy affecting multiple nerves that is caused by prolonged exposure to toxic substances.
http://purl.obolibrary.org/obo/MONDO_0004373	adult papillary meningioma	http://purl.obolibrary.org/obo/MONDO_0021088	papillary meningioma		A papillary meningioma occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0004374	adult extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002621	extraosseous osteosarcoma		An osteosarcoma arising from the soft tissue, and occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0004375	end stage renal failure	http://purl.obolibrary.org/obo/MONDO_0005300	chronic kidney disease		Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.
http://purl.obolibrary.org/obo/MONDO_0004376	infiltrating nipple syringomatous adenoma	http://purl.obolibrary.org/obo/MONDO_0002482	nipple neoplasm		An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.
http://purl.obolibrary.org/obo/MONDO_0004377	pancreatic non-functioning delta cell tumor	http://purl.obolibrary.org/obo/MONDO_0004334	non-functional pancreatic neuroendocrine tumor		A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.
http://purl.obolibrary.org/obo/MONDO_0004378	pediatric cerebral ependymoblastoma	http://purl.obolibrary.org/obo/MONDO_0016715	ependymoblastoma		An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0004379	female breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.
http://purl.obolibrary.org/obo/MONDO_0004380	dendritic cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0020082	dendritic cell tumor		A sarcoma that involves the dendritic cell.
http://purl.obolibrary.org/obo/MONDO_0004381	pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia	http://purl.obolibrary.org/obo/MONDO_0004286	pancreatic intraductal papillary-mucinous neoplasm		A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.
http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder	http://purl.obolibrary.org/obo/MONDO_0004867	upper respiratory tract disorder		A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004383	adult central nervous system germinoma	http://purl.obolibrary.org/obo/MONDO_0003405	adult central nervous system germ cell tumor		A central nervous system germinoma that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0004384	maxillary sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004457	maxillary sinus Schneiderian papilloma		A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.
http://purl.obolibrary.org/obo/MONDO_0004385	adult xanthogranuloma	http://purl.obolibrary.org/obo/MONDO_0024617	xanthogranuloma		A xanthogranuloma that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0004386	uterine corpus atypical polypoid adenomyoma	http://purl.obolibrary.org/obo/MONDO_0003237	adenomyoma of uterine corpus		An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.
http://purl.obolibrary.org/obo/MONDO_0004387	luteoma of pregnancy	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required.
http://purl.obolibrary.org/obo/MONDO_0004389	mite infestation	http://purl.obolibrary.org/obo/MONDO_0002875	parasitic ectoparasitic infectious disease		Infestations with arthropods of the subclass acari, superorder Acariformes.
http://purl.obolibrary.org/obo/MONDO_0004390	ocular hypotension	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Abnormally low intraocular pressure often related to chronic inflammation (uveitis).
http://purl.obolibrary.org/obo/MONDO_0004392	intracranial extraskeletal myxoid chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.
http://purl.obolibrary.org/obo/MONDO_0004393	mixed astrocytoma-ependymoma	http://purl.obolibrary.org/obo/MONDO_0003268	mixed glioma		A tumor of mixed cell type with astrocytic components as well as ependymoma components.
http://purl.obolibrary.org/obo/MONDO_0004394	maxillary sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044705	paranasal sinus squamous cell carcinoma		A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.
http://purl.obolibrary.org/obo/MONDO_0004396	cervical spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001279	intraspinal meningioma		A meningioma that arises from the meninges of the cervical region of the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0004397	benign mediastinal psammomatous neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0004398	mediastinal schwannoma		A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.
http://purl.obolibrary.org/obo/MONDO_0004398	mediastinal schwannoma	http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system		A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.
http://purl.obolibrary.org/obo/MONDO_0004400	malignant type A thymoma	http://purl.obolibrary.org/obo/MONDO_0002588	thymoma type A		A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.
http://purl.obolibrary.org/obo/MONDO_0004401	testis refractory cancer	http://purl.obolibrary.org/obo/MONDO_0036501	refractory malignant neoplasm		Malignant testicular germ cell tumor that is resistant to treatment.
http://purl.obolibrary.org/obo/MONDO_0004402	testicular yolk sac tumor, glandular-alveolar pattern	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.
http://purl.obolibrary.org/obo/MONDO_0004403	childhood precursor T-lymphoblastic lymphoma/leukemia	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A T lymphoblastic leukemia/lymphoma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004404	refractory precursor T-lymphoblastic lymphoma/leukemia	http://purl.obolibrary.org/obo/MONDO_0004111	refractory hematologic cancer		T-lymphoblastic leukemia/lymphoma resistant to treatment
http://purl.obolibrary.org/obo/MONDO_0004405	Barrett adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005028	esophageal adenocarcinoma		An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002
http://purl.obolibrary.org/obo/MONDO_0004406	adult central nervous system mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0016742	mixed germ cell tumor of central nervous system		A mixed germ cell tumor of central nervous system that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0004407	stroma-dominant and stroma-poor composite ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0003325	nodular ganglioneuroblastoma		A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.
http://purl.obolibrary.org/obo/MONDO_0004408	schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0003325	nodular ganglioneuroblastoma		A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.
http://purl.obolibrary.org/obo/MONDO_0004409	nipple duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0003950	nipple carcinoma		A carcinoma that develops in the ducts of the nipple.
http://purl.obolibrary.org/obo/MONDO_0004410	sarcomatoid penile squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021663	sarcomatoid squamous cell carcinoma		A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells.
http://purl.obolibrary.org/obo/MONDO_0004411	duodenal gastrin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015063	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade		A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0004412	malignant spiradenoma	http://purl.obolibrary.org/obo/MONDO_0024882	secondary neoplasm		A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.
http://purl.obolibrary.org/obo/MONDO_0004413	cervical non-keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006143	cervical squamous cell carcinoma		A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.
http://purl.obolibrary.org/obo/MONDO_0004414	tamoxifen-related endometrial lesion	http://purl.obolibrary.org/obo/MONDO_0000931	endometrial disorder		A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004420	breast malignant eccrine spiradenoma	http://purl.obolibrary.org/obo/MONDO_0004988	breast adenocarcinoma		A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.
http://purl.obolibrary.org/obo/MONDO_0004421	sclerosing breast papilloma	http://purl.obolibrary.org/obo/MONDO_0021097	intraductal breast papilloma		A breast papilloma characterized by the presence of predominant sclerosing architectural features.
http://purl.obolibrary.org/obo/MONDO_0004422	cerebral falx meningioma	http://purl.obolibrary.org/obo/MONDO_0002997	anterior cranial fossa meningioma		A meningioma that affects the falx cerebri.
http://purl.obolibrary.org/obo/MONDO_0004423	central nervous system extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0037740	malignant central nervous system mesenchymal, non-meningothelial neoplasm		An osteosarcoma arising from the brain or spinal cord.
http://purl.obolibrary.org/obo/MONDO_0004425	hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.
http://purl.obolibrary.org/obo/MONDO_0004426	frontal convexity meningioma	http://purl.obolibrary.org/obo/MONDO_0003774	cerebral convexity meningioma		A meningioma that affects the frontal sulcus.
http://purl.obolibrary.org/obo/MONDO_0004427	supraglottis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021071	laryngeal neoplasm		A benign or malignant neoplasm that affects the supraglottic area of the larynx.
http://purl.obolibrary.org/obo/MONDO_0004428	alveoli adenoma	http://purl.obolibrary.org/obo/MONDO_0003422	lung adenoma		A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.
http://purl.obolibrary.org/obo/MONDO_0004429	skin meningioma	http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges		A meningioma (disease) that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0004430	penis mixed squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018352	squamous cell carcinoma of penis		A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma).
http://purl.obolibrary.org/obo/MONDO_0004431	hemarthrosis	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.
http://purl.obolibrary.org/obo/MONDO_0004432	mature pericardial teratoma	http://purl.obolibrary.org/obo/MONDO_0021381	neoplasm of pericardium		A benign teratoma that arises from the pericardium.
http://purl.obolibrary.org/obo/MONDO_0004433	papillary carcinoma of the penis	http://purl.obolibrary.org/obo/MONDO_0018352	squamous cell carcinoma of penis		A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.
http://purl.obolibrary.org/obo/MONDO_0004435	liver fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
http://purl.obolibrary.org/obo/MONDO_0004436	ovarian myxoid liposarcoma	http://purl.obolibrary.org/obo/MONDO_0013280	myxoid liposarcoma		A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0004438	sporadic breast cancer	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		A carcinoma that arises from the breast and is not caused by inherited genetic mutations.
http://purl.obolibrary.org/obo/MONDO_0004439	periocular meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that affects the periocular region.
http://purl.obolibrary.org/obo/MONDO_0004440	pineal region meningioma	http://purl.obolibrary.org/obo/MONDO_0021232	pineal body neoplasm		A meningioma that affects the pineal gland.
http://purl.obolibrary.org/obo/MONDO_0004441	childhood ovarian embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0020577	childhood gonadal germ cell tumor		An embryonal carcinoma that arises from the ovary and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0004442	testis polyembryoma	http://purl.obolibrary.org/obo/MONDO_0015863	polyembryoma		A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.
http://purl.obolibrary.org/obo/MONDO_0004443	chest wall parachordoma	http://purl.obolibrary.org/obo/MONDO_0021388	neoplasm of chest wall		A parachordoma arising from the chest wall.
http://purl.obolibrary.org/obo/MONDO_0004444	bladder tubulo-cystic clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003386	bladder clear cell adenocarcinoma		A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.
http://purl.obolibrary.org/obo/MONDO_0004445	bladder papillary clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003386	bladder clear cell adenocarcinoma		A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.
http://purl.obolibrary.org/obo/MONDO_0004446	olfactory groove meningioma	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A meningioma that affects the olfactory sulcus.
http://purl.obolibrary.org/obo/MONDO_0004447	pituitary stalk meningioma	http://purl.obolibrary.org/obo/MONDO_0003257	posterior pituitary gland neoplasm		A meningioma that affects the pituitary stalk.
http://purl.obolibrary.org/obo/MONDO_0004448	frontal sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003752	frontal sinus Schneiderian papilloma		A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.
http://purl.obolibrary.org/obo/MONDO_0004449	intraductal breast myoepitheliosis	http://purl.obolibrary.org/obo/MONDO_0004262	breast myoepitheliosis		A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts.
http://purl.obolibrary.org/obo/MONDO_0004450	carotid artery occlusion	http://purl.obolibrary.org/obo/MONDO_0005269	carotid artery disorder		A occlusion precerebral artery that involves the carotid artery segment.
http://purl.obolibrary.org/obo/MONDO_0004451	sarcomatous intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003210	intrahepatic cholangiocarcinoma		A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0004452	childhood central nervous system germinoma	http://purl.obolibrary.org/obo/MONDO_0004479	malignant childhood germ cell neoplasm		A germinoma arising from the central nervous system during childhood.
http://purl.obolibrary.org/obo/MONDO_0004453	testicular yolk sac tumor, myxomatous pattern	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.
http://purl.obolibrary.org/obo/MONDO_0004454	cellular congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0017043	congenital mesoblastic nephroma		A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.
http://purl.obolibrary.org/obo/MONDO_0004455	classic congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0017043	congenital mesoblastic nephroma		A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.
http://purl.obolibrary.org/obo/MONDO_0004456	cocaine abuse	http://purl.obolibrary.org/obo/MONDO_0002491	substance abuse		Disorders related or resulting from use of cocaine.
http://purl.obolibrary.org/obo/MONDO_0004457	maxillary sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0021484	benign neoplasm of maxillary sinus		A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma.
http://purl.obolibrary.org/obo/MONDO_0004459	bladder hepatoid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006243	hepatoid adenocarcinoma		A hepatoid adenocarcinoma that involves the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0004460	thyroid gland fetal adenoma	http://purl.obolibrary.org/obo/MONDO_0005032	follicular thyroid adenoma		A thyroid gland adenoma composed of microfollicular structures.
http://purl.obolibrary.org/obo/MONDO_0004461	vaginal tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0024661	tubulovillous adenoma		An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0004462	extrahepatic bile duct cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003445	extrahepatic bile duct adenoma		A mucinous cystic neoplasm that arises from the extrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0004463	cellular phase chronic idiopathic myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.
http://purl.obolibrary.org/obo/MONDO_0004464	nephrogenic adenoma of the urethra	http://purl.obolibrary.org/obo/MONDO_0004191	nephrogenic adenoma		A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.
http://purl.obolibrary.org/obo/MONDO_0004465	periampullary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002670	ampulla of vater adenocarcinoma		An adenocarcinoma that arises from the periampullary region.
http://purl.obolibrary.org/obo/MONDO_0004467	mature gastric teratoma	http://purl.obolibrary.org/obo/MONDO_0003517	mature teratoma		A benign teratoma that arises from the stomach.
http://purl.obolibrary.org/obo/MONDO_0004468	anal canal Paget disease	http://purl.obolibrary.org/obo/MONDO_0002735	anal canal adenocarcinoma		Paget disease involving the squamous epithelium of the anal canal.
http://purl.obolibrary.org/obo/MONDO_0004471	bacterial arthritis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.
http://purl.obolibrary.org/obo/MONDO_0004472	breast columnar cell mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002707	breast mucinous carcinoma		An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified.
http://purl.obolibrary.org/obo/MONDO_0004473	epiglottis cancer	http://purl.obolibrary.org/obo/MONDO_0044926	oropharyngeal carcinoma		A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0004474	gallbladder lymphoma	http://purl.obolibrary.org/obo/MONDO_0005411	gallbladder cancer		A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site.
http://purl.obolibrary.org/obo/MONDO_0004475	thymus clear cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006451	thymic carcinoma		A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0004477	adrenal gland ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A ganglioneuroblastoma arising from the adrenal gland.
http://purl.obolibrary.org/obo/MONDO_0004478	pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0003864	chronic lymphocytic leukemia/small lymphocytic lymphoma		A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years.
http://purl.obolibrary.org/obo/MONDO_0004479	malignant childhood germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A malignant germ cell tumor that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0004481	pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0006047	pancreatic adenocarcinoma		A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0004482	fibroosseous pseudotumor of the digits	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.
http://purl.obolibrary.org/obo/MONDO_0004483	thyroid gland oncocytic adenoma	http://purl.obolibrary.org/obo/MONDO_0005032	follicular thyroid adenoma		A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.
http://purl.obolibrary.org/obo/MONDO_0004484	gallbladder melanoma	http://purl.obolibrary.org/obo/MONDO_0045070	digestive system melanoma		A melanoma that arises from the gallbladder.
http://purl.obolibrary.org/obo/MONDO_0004485	interstitial myocarditis	http://purl.obolibrary.org/obo/MONDO_0004496	myocarditis		Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.
http://purl.obolibrary.org/obo/MONDO_0004486	endocervical type cervical adenomyoma	http://purl.obolibrary.org/obo/MONDO_0003238	cervical adenomyoma		An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.
http://purl.obolibrary.org/obo/MONDO_0004487	endometrial type cervical adenomyoma	http://purl.obolibrary.org/obo/MONDO_0003238	cervical adenomyoma		An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.
http://purl.obolibrary.org/obo/MONDO_0004488	cervical atypical polypoid adenomyoma	http://purl.obolibrary.org/obo/MONDO_0003238	cervical adenomyoma		An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.
http://purl.obolibrary.org/obo/MONDO_0004489	fallopian tube gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0020550	gestational choriocarcinoma		A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy.
http://purl.obolibrary.org/obo/MONDO_0004491	uterine corpus choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016273	malignant germ cell tumor of corpus uteri		An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.
http://purl.obolibrary.org/obo/MONDO_0004492	mediastinitis	http://purl.obolibrary.org/obo/MONDO_0021166	inflammatory disease		An inflammatory process affecting the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0004493	testicular yolk sac tumor, papillary pattern	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.
http://purl.obolibrary.org/obo/MONDO_0004494	testicular yolk sac tumor, hepatoid pattern	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.
http://purl.obolibrary.org/obo/MONDO_0004495	myotonic cataract	http://purl.obolibrary.org/obo/MONDO_0016107	myotonic dystrophy		A cataract occurring as a sequela of myotonic dystrophy.
http://purl.obolibrary.org/obo/MONDO_0004496	myocarditis	http://purl.obolibrary.org/obo/MONDO_0024643	myocardial disorder		Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.
http://purl.obolibrary.org/obo/MONDO_0004497	tertiary syphilis	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).
http://purl.obolibrary.org/obo/MONDO_0004498	sacral spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001279	intraspinal meningioma		A meningioma that arises from the meninges of the sacral region of the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0004499	lung hilum carcinoma	http://purl.obolibrary.org/obo/MONDO_0005138	lung carcinoma		A lung carcinoma arising from the hilum of the lung.
http://purl.obolibrary.org/obo/MONDO_0004500	lung superior sulcus carcinoma	http://purl.obolibrary.org/obo/MONDO_0006883	malignant superior sulcus neoplasm		A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.
http://purl.obolibrary.org/obo/MONDO_0004501	fallopian tube cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003464	cystadenofibroma		A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.
http://purl.obolibrary.org/obo/MONDO_0004503	upper clivus meningioma	http://purl.obolibrary.org/obo/MONDO_0003908	clivus meningioma		A meningioma that affects the upper clivus.
http://purl.obolibrary.org/obo/MONDO_0004504	penile urethral cancer	http://purl.obolibrary.org/obo/MONDO_0004197	male urethral cancer		A urethra cancer that involves the penis.
http://purl.obolibrary.org/obo/MONDO_0004505	central breast papilloma	http://purl.obolibrary.org/obo/MONDO_0021097	intraductal breast papilloma		A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.
http://purl.obolibrary.org/obo/MONDO_0004506	microscopic breast papilloma	http://purl.obolibrary.org/obo/MONDO_0021097	intraductal breast papilloma		A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0004507	atypical breast papilloma	http://purl.obolibrary.org/obo/MONDO_0021097	intraductal breast papilloma		An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.
http://purl.obolibrary.org/obo/MONDO_0004508	periapical periodontitis	http://purl.obolibrary.org/obo/MONDO_0005076	periodontitis		Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.
http://purl.obolibrary.org/obo/MONDO_0004509	intrahepatic biliary papillomatosis	http://purl.obolibrary.org/obo/MONDO_0003455	bile duct papillary neoplasm		A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0004510	inflammatory liposarcoma	http://purl.obolibrary.org/obo/MONDO_0006097	atypical lipomatous tumor		A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.
http://purl.obolibrary.org/obo/MONDO_0004511	lower clivus meningioma	http://purl.obolibrary.org/obo/MONDO_0003908	clivus meningioma		A meningioma that affects the lower clivus.
http://purl.obolibrary.org/obo/MONDO_0004512	meningeal melanomatosis	http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges		A meningeal melanoma with secondary diffuse meningeal spread. (WHO)
http://purl.obolibrary.org/obo/MONDO_0004513	adult pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0017386	pleomorphic rhabdomyosarcoma		An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.
http://purl.obolibrary.org/obo/MONDO_0004514	chronic rhinitis	http://purl.obolibrary.org/obo/MONDO_0003014	rhinitis		Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.
http://purl.obolibrary.org/obo/MONDO_0004517	ureter tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006002	urogenital tuberculosis		A tuberculosis that involves the ureter.
http://purl.obolibrary.org/obo/MONDO_0004518	anterior urethra cancer	http://purl.obolibrary.org/obo/MONDO_0004192	urethra cancer		A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.
http://purl.obolibrary.org/obo/MONDO_0004519	synovial angioma	http://purl.obolibrary.org/obo/MONDO_0024715	benign synovial neoplasm		A rare hemangioma arising from synovium lining surfaces.
http://purl.obolibrary.org/obo/MONDO_0004520	intratubular embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0006446	testicular embryonal carcinoma		Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)
http://purl.obolibrary.org/obo/MONDO_0004521	adult epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0017387	epithelioid sarcoma		An epithelioid sarcoma occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0004522	infectious peritonitis	http://purl.obolibrary.org/obo/MONDO_1010128	peritonitis		Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.
http://purl.obolibrary.org/obo/MONDO_0004523	clear cell squamous cell skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0005056	keratinizing squamous cell carcinoma		A squamous cell carcinoma of the skin with a prominent clear cell component.
http://purl.obolibrary.org/obo/MONDO_0004524	thyroid gland atypical follicular adenoma	http://purl.obolibrary.org/obo/MONDO_0005032	follicular thyroid adenoma		A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.
http://purl.obolibrary.org/obo/MONDO_0004525	scabies	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.
http://purl.obolibrary.org/obo/MONDO_0004526	mixed endometrial stromal and smooth muscle tumor	http://purl.obolibrary.org/obo/MONDO_0021254	corpus uteri neoplasm		A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.
http://purl.obolibrary.org/obo/MONDO_0004528	lymph node palisaded myofibroblastoma	http://purl.obolibrary.org/obo/MONDO_0040675	myofibroblastoma		A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.
http://purl.obolibrary.org/obo/MONDO_0004529	non-ossifying fibromyxoid tumor	http://purl.obolibrary.org/obo/MONDO_0037745	fibromyxoid tumor		A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.
http://purl.obolibrary.org/obo/MONDO_0004530	early invasive cervical adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005153	cervical adenocarcinoma		A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.
http://purl.obolibrary.org/obo/MONDO_0004531	sclerosing adenosis of breast	http://purl.obolibrary.org/obo/MONDO_0003725	breast adenosis		Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.
http://purl.obolibrary.org/obo/MONDO_0004532	auditory system cancer	http://purl.obolibrary.org/obo/MONDO_0002409	auditory system disorder		A malignant neoplasm involving the auditory system
http://purl.obolibrary.org/obo/MONDO_0004533	perineural angioma	http://purl.obolibrary.org/obo/MONDO_0003096	deep hemangioma		A hemangioma arising from perineural tissues.
http://purl.obolibrary.org/obo/MONDO_0004534	microglandular adenosis of breast	http://purl.obolibrary.org/obo/MONDO_0003725	breast adenosis		A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.
http://purl.obolibrary.org/obo/MONDO_0004535	childhood choriocarcinoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0020577	childhood gonadal germ cell tumor		A non-gestational choriocarcinoma that arises from the ovary and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0004537	intestinal variant cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006254	intestinal type adenocarcinoma		A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0004538	endocervical type cervical mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002742	cervical mucinous adenocarcinoma		A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.
http://purl.obolibrary.org/obo/MONDO_0004539	aortic malignant tumor	http://purl.obolibrary.org/obo/MONDO_0040676	great vessel cancer		A cancer that involves the aorta.
http://purl.obolibrary.org/obo/MONDO_0004540	epithelioid malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0017827	malignant peripheral nerve sheath tumor		A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.
http://purl.obolibrary.org/obo/MONDO_0004541	pseudoglandular variant testicular seminoma	http://purl.obolibrary.org/obo/MONDO_0003669	testicular seminoma		A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0004542	cervical adenosquamous carcinoma, glassy cell variant	http://purl.obolibrary.org/obo/MONDO_0006134	cervical adenosquamous carcinoma		A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.
http://purl.obolibrary.org/obo/MONDO_0004543	enteric pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.
http://purl.obolibrary.org/obo/MONDO_0004544	chordoid meningioma	http://purl.obolibrary.org/obo/MONDO_0045056	grade II meningioma		A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.
http://purl.obolibrary.org/obo/MONDO_0004545	adult malignant schwannoma	http://purl.obolibrary.org/obo/MONDO_0017827	malignant peripheral nerve sheath tumor		A malignant peripheral nerve sheath tumor occurring during adulthood.
http://purl.obolibrary.org/obo/MONDO_0004546	lumbar plexus neoplasm	http://purl.obolibrary.org/obo/MONDO_0003100	nerve plexus neoplasm		A neoplasm (disease) that involves the lumbar nerve plexus.
http://purl.obolibrary.org/obo/MONDO_0004547	reticular pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003402	testicular yolk sac tumor		A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.
http://purl.obolibrary.org/obo/MONDO_0004548	adult type testicular granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0003395	testicular granulosa cell tumor		A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.
http://purl.obolibrary.org/obo/MONDO_0004549	cork-handlers' disease	http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease		An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.
http://purl.obolibrary.org/obo/MONDO_0004550	malignant cornea melanoma	http://purl.obolibrary.org/obo/MONDO_0006325	ocular melanoma		A melanoma within the cornea of the eye.
http://purl.obolibrary.org/obo/MONDO_0004551	Meckel diverticulitis	http://purl.obolibrary.org/obo/MONDO_0043579	enteritis		Inflammation of a congenital diverticulum of the lower intestine.
http://purl.obolibrary.org/obo/MONDO_0004552	microinvasive cervical squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006143	cervical squamous cell carcinoma		A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.
http://purl.obolibrary.org/obo/MONDO_0004554	childhood kidney angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0004555	kidney angiomyolipoma		An angiomyolipoma occurring in childhood.
http://purl.obolibrary.org/obo/MONDO_0004555	kidney angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0020581	benign PEComa		An angiomyolipoma arising from the kidney.
http://purl.obolibrary.org/obo/MONDO_0004556	carcinoma arising in nasal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0003212	nasal cavity carcinoma		A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose.
http://purl.obolibrary.org/obo/MONDO_0004557	congenital fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0002678	pediatric fibrosarcoma		A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.
http://purl.obolibrary.org/obo/MONDO_0004558	thyroid gland macrofollicular adenoma	http://purl.obolibrary.org/obo/MONDO_0005032	follicular thyroid adenoma		A thyroid gland adenoma composed of large size follicles.
http://purl.obolibrary.org/obo/MONDO_0004559	malignant glandular tumor of peripheral nerve sheath	http://purl.obolibrary.org/obo/MONDO_0017827	malignant peripheral nerve sheath tumor		A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.
http://purl.obolibrary.org/obo/MONDO_0004561	retinal melanoma	http://purl.obolibrary.org/obo/MONDO_0006325	ocular melanoma		A melanoma affecting the retinal portion of the eye. --2003
http://purl.obolibrary.org/obo/MONDO_0004562	breast apocrine carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004658	breast carcinoma in situ		A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation.
http://purl.obolibrary.org/obo/MONDO_0004563	physiological polycythemia	http://purl.obolibrary.org/obo/MONDO_0005571	polycythemia		Polycythemia that is not pathologic.
http://purl.obolibrary.org/obo/MONDO_0004564	thyroid malformation	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		An anatomic abnormality of the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0004565	intestinal obstruction	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Blockage of the normal flow of the intestinal contents within the bowel.
http://purl.obolibrary.org/obo/MONDO_0004566	postgastrectomy syndrome	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.
http://purl.obolibrary.org/obo/MONDO_0004567	ileus	http://purl.obolibrary.org/obo/MONDO_0004565	intestinal obstruction		Decrease in peristalsis in the absence of a mechanical bowel obstruction.
http://purl.obolibrary.org/obo/MONDO_0004568	paralytic ileus	http://purl.obolibrary.org/obo/MONDO_0004567	ileus		An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.
http://purl.obolibrary.org/obo/MONDO_0004569	brachial plexus neuropathy from injury	http://purl.obolibrary.org/obo/MONDO_0006683	brachial plexus neuropathy		A brachial plexus neuropathy caused by an injury in the brachial plexus network of nerves.
http://purl.obolibrary.org/obo/MONDO_0004570	intestinal volvulus	http://purl.obolibrary.org/obo/MONDO_0004565	intestinal obstruction		Twisting of a loop of bowel that results in intestinal obstruction.
http://purl.obolibrary.org/obo/MONDO_0004572	cyclothymic disorder	http://purl.obolibrary.org/obo/MONDO_0005371	mood disorder		An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.
http://purl.obolibrary.org/obo/MONDO_0004573	ariboflavinosis	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0004574	pyridoxine deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0042976	vitamin B deficiency		Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.
http://purl.obolibrary.org/obo/MONDO_0004575	choline deficiency disease	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)
http://purl.obolibrary.org/obo/MONDO_0004577	corneal ulcer	http://purl.obolibrary.org/obo/MONDO_0043839	ulcer disease		Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber.
http://purl.obolibrary.org/obo/MONDO_0004579	retinoschisis	http://purl.obolibrary.org/obo/MONDO_0004580	retinal degeneration		An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.
http://purl.obolibrary.org/obo/MONDO_0004580	retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Degeneration of the retina.
http://purl.obolibrary.org/obo/MONDO_0004582	rheumatic myocarditis	http://purl.obolibrary.org/obo/MONDO_0006955	rheumatic heart disease		Inflammation of the myocardium in acute rheumatic heart disease.
http://purl.obolibrary.org/obo/MONDO_0004583	transient retinal arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0006948	retinal artery occlusion		A partial, temporary occlusion of the retinal artery.
http://purl.obolibrary.org/obo/MONDO_0004584	maple bark strippers' lung	http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease		A hypersensitivity pneumonitis associated with the inhalation of fungal spores of Cryptostroma corticale in workers stripping the bark from maple and sycamore logs affected by sooty bark disease.
http://purl.obolibrary.org/obo/MONDO_0004585	polyhydramnios	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.
http://purl.obolibrary.org/obo/MONDO_0004586	rheumatoid arthritis-associated interstitial lung disease	http://purl.obolibrary.org/obo/MONDO_0008383	rheumatoid arthritis		A group of lung problems related to rheumatoid arthritis.
http://purl.obolibrary.org/obo/MONDO_0004588	night blindness	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Inability to see clearly in dim light.
http://purl.obolibrary.org/obo/MONDO_0004591	impetigo herpetiformis	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.
http://purl.obolibrary.org/obo/MONDO_0004592	impetigo	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.
http://purl.obolibrary.org/obo/MONDO_0004593	Bartholin duct cyst	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.
http://purl.obolibrary.org/obo/MONDO_0004596	cor pulmonale	http://purl.obolibrary.org/obo/MONDO_0005009	congestive heart failure		Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.
http://purl.obolibrary.org/obo/MONDO_0004597	pulmonary embolism and infarction	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism.
http://purl.obolibrary.org/obo/MONDO_0004598	acute cor pulmonale	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.
http://purl.obolibrary.org/obo/MONDO_0004599	barbiturate abuse	http://purl.obolibrary.org/obo/MONDO_0002491	substance abuse		A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.
http://purl.obolibrary.org/obo/MONDO_0004601	ulcer of lower limbs	http://purl.obolibrary.org/obo/MONDO_0004605	chronic ulcer of skin		Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.
http://purl.obolibrary.org/obo/MONDO_0004604	Hodgkin's lymphoma, lymphocytic-histiocytic predominance	http://purl.obolibrary.org/obo/MONDO_0009348	classic Hodgkin lymphoma		A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)
http://purl.obolibrary.org/obo/MONDO_0004607	vallecula cancer	http://purl.obolibrary.org/obo/MONDO_0004608	oropharynx cancer		A cancer involving a epiglottic vallecula.
http://purl.obolibrary.org/obo/MONDO_0004608	oropharynx cancer	http://purl.obolibrary.org/obo/MONDO_0021364	neoplasm of oropharynx		A primary or metastatic malignant neoplasm that affects the oropharynx.
http://purl.obolibrary.org/obo/MONDO_0004609	herpes simplex infectious disease	http://purl.obolibrary.org/obo/MONDO_0005794	Herpesviridae infectious disease		A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)
http://purl.obolibrary.org/obo/MONDO_0004611	soft palate cancer	http://purl.obolibrary.org/obo/MONDO_0005515	oral cavity cancer		A primary or metastatic malignant neoplasm that affects the soft palate.
http://purl.obolibrary.org/obo/MONDO_0004612	malignant histiocytosis	http://purl.obolibrary.org/obo/MONDO_0002637	histiocytosis		Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.
http://purl.obolibrary.org/obo/MONDO_0004613	acute intestinal ischemia	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Ischemia of the intestine that is rapid in onset.
http://purl.obolibrary.org/obo/MONDO_0004614	chronic monocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0004600	monocytic leukemia		Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.
http://purl.obolibrary.org/obo/MONDO_0004615	upper gum cancer	http://purl.obolibrary.org/obo/MONDO_0005507	gingival cancer		A cancer involving a gingiva of upper jaw.
http://purl.obolibrary.org/obo/MONDO_0004616	herpetic whitlow	http://purl.obolibrary.org/obo/MONDO_0024487	nail infection		A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.
http://purl.obolibrary.org/obo/MONDO_0004617	recurrent hypersomnia	http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder		Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)
http://purl.obolibrary.org/obo/MONDO_0004619	measles	http://purl.obolibrary.org/obo/MONDO_0005857	morbillivirus infectious disease		A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).
http://purl.obolibrary.org/obo/MONDO_0004620	Hodgkin's lymphoma, lymphocytic depletion	http://purl.obolibrary.org/obo/MONDO_0009348	classic Hodgkin lymphoma		A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)
http://purl.obolibrary.org/obo/MONDO_0004621	upper lip cancer	http://purl.obolibrary.org/obo/MONDO_0006834	lip cancer		A malignant neoplasm involving the upper lip.
http://purl.obolibrary.org/obo/MONDO_0004624	uvula cancer	http://purl.obolibrary.org/obo/MONDO_0004611	soft palate cancer		A malignant neoplasm involving the palatine uvula.
http://purl.obolibrary.org/obo/MONDO_0004625	phlebitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		Inflammation of a vein.
http://purl.obolibrary.org/obo/MONDO_0004627	duodenitis	http://purl.obolibrary.org/obo/MONDO_0043579	enteritis		Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.
http://purl.obolibrary.org/obo/MONDO_0004631	tongue cancer	http://purl.obolibrary.org/obo/MONDO_0021240	tongue neoplasm		A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.
http://purl.obolibrary.org/obo/MONDO_0004633	Hodgkin's lymphoma, mixed cellularity	http://purl.obolibrary.org/obo/MONDO_0009348	classic Hodgkin lymphoma		A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)
http://purl.obolibrary.org/obo/MONDO_0004634	vein disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A disease involving the vein.
http://purl.obolibrary.org/obo/MONDO_0004635	postcricoid region cancer	http://purl.obolibrary.org/obo/MONDO_0005806	hypopharynx cancer		A primary or metastatic malignant neoplasm that affects the postcricoid region.
http://purl.obolibrary.org/obo/MONDO_0004636	lip carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021333	carcinoma of lip		A in situ carcinoma that involves the lip.
http://purl.obolibrary.org/obo/MONDO_0004637	aryepiglottic fold cancer	http://purl.obolibrary.org/obo/MONDO_0005806	hypopharynx cancer		A malignant neoplasm involving the aryepiglottic fold.
http://purl.obolibrary.org/obo/MONDO_0004638	lymphosarcoma	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0004639	perinatal necrotizing enterocolitis	http://purl.obolibrary.org/obo/MONDO_0005313	necrotizing enterocolitis		A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.
http://purl.obolibrary.org/obo/MONDO_0004640	alcoholic gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		Inflammation of the stomach resulting from alcohol ingestion.
http://purl.obolibrary.org/obo/MONDO_0004641	skin carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004647	in situ carcinoma		A in situ carcinoma that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0004642	tonsillar pillar cancer	http://purl.obolibrary.org/obo/MONDO_0006998	tonsil cancer		A cancer that involves the tonsillar pillar.
http://purl.obolibrary.org/obo/MONDO_0004643	myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.
http://purl.obolibrary.org/obo/MONDO_0004645	cheek mucosa cancer	http://purl.obolibrary.org/obo/MONDO_0021241	buccal mucosa neoplasm		A malignant neoplasm involving the buccal mucosa.
http://purl.obolibrary.org/obo/MONDO_0004646	decubitus ulcer	http://purl.obolibrary.org/obo/MONDO_0004605	chronic ulcer of skin		Death of tissue due to external pressure.
http://purl.obolibrary.org/obo/MONDO_0004647	in situ carcinoma	http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition		A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.
http://purl.obolibrary.org/obo/MONDO_0004648	vascular dementia	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.
http://purl.obolibrary.org/obo/MONDO_0004649	anaerobic pneumonia	http://purl.obolibrary.org/obo/MONDO_0024389	anaerobic bacteria infectious disease		A pneumonia caused by anaerobic bacteria.
http://purl.obolibrary.org/obo/MONDO_0004650	malignant carotid body paraganglioma	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A carotid body paraganglioma that metastasizes to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0004651	smallpox	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.
http://purl.obolibrary.org/obo/MONDO_0004652	bacterial pneumonia	http://purl.obolibrary.org/obo/MONDO_0005249	pneumonia		Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain.
http://purl.obolibrary.org/obo/MONDO_0004653	atypical chronic myeloid leukemia, BCR-ABL1 negative	http://purl.obolibrary.org/obo/MONDO_0006311	myelodysplastic/myeloproliferative neoplasm		A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0004656	rubella	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.
http://purl.obolibrary.org/obo/MONDO_0004658	breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		A in situ carcinoma that involves the breast.
http://purl.obolibrary.org/obo/MONDO_0004659	eye carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004647	in situ carcinoma		A carcinoma in situ involving a eye.
http://purl.obolibrary.org/obo/MONDO_0004660	lung carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0005138	lung carcinoma		A carcinoma in situ involving a lung.
http://purl.obolibrary.org/obo/MONDO_0004661	trachea carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004693	squamous carcinoma in situ		A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion.
http://purl.obolibrary.org/obo/MONDO_0004662	heterophyiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.
http://purl.obolibrary.org/obo/MONDO_0004663	colon carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004698	intestine carcinoma in situ		A in situ carcinoma that involves the colon.
http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		A parasitic infection characterized by the infestation with worms, mainly in the intestine.
http://purl.obolibrary.org/obo/MONDO_0004665	nodular sclerosis classical Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0009348	classic Hodgkin lymphoma		A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)
http://purl.obolibrary.org/obo/MONDO_0004666	metagonimiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.
http://purl.obolibrary.org/obo/MONDO_0004667	sublingual gland cancer	http://purl.obolibrary.org/obo/MONDO_0044743	major salivary gland cancer		A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.
http://purl.obolibrary.org/obo/MONDO_0004668	fascioliasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.
http://purl.obolibrary.org/obo/MONDO_0004669	salivary gland cancer	http://purl.obolibrary.org/obo/MONDO_0021357	tumor of salivary gland		A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0004670	lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.
http://purl.obolibrary.org/obo/MONDO_0004671	penis carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0018352	squamous cell carcinoma of penis		A in situ carcinoma that involves the penis.
http://purl.obolibrary.org/obo/MONDO_0004672	fasciolopsiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.
http://purl.obolibrary.org/obo/MONDO_0004673	lower lip cancer	http://purl.obolibrary.org/obo/MONDO_0006834	lip cancer		A malignant neoplasm involving the lower lip.
http://purl.obolibrary.org/obo/MONDO_0004674	chorioretinitis	http://purl.obolibrary.org/obo/MONDO_0020283	uveitis		Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.
http://purl.obolibrary.org/obo/MONDO_0004675	mitochondrial encephalomyopathy	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
http://purl.obolibrary.org/obo/MONDO_0004677	tinea nigra	http://purl.obolibrary.org/obo/MONDO_0024268	superficial mycosis		A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.
http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis	http://purl.obolibrary.org/obo/MONDO_0024268	superficial mycosis		A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.
http://purl.obolibrary.org/obo/MONDO_0004679	leukoplakia of vagina	http://purl.obolibrary.org/obo/MONDO_0043243	leukoplakia		Leukoplakia of the vagina.
http://purl.obolibrary.org/obo/MONDO_0004681	learning disability	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.
http://purl.obolibrary.org/obo/MONDO_0004682	retromolar area cancer	http://purl.obolibrary.org/obo/MONDO_0037744	neoplasm of retromolar area		A malignant form of neoplasm of retromolar area.
http://purl.obolibrary.org/obo/MONDO_0004684	plantar fibromatosis	http://purl.obolibrary.org/obo/MONDO_0016037	superficial Fibromatosis		A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.
http://purl.obolibrary.org/obo/MONDO_0004685	Waldeyer's ring cancer	http://purl.obolibrary.org/obo/MONDO_0044986	lymphoid system disorder		A malignant neoplasm involving the tonsillar ring.
http://purl.obolibrary.org/obo/MONDO_0004689	inborn metal metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
http://purl.obolibrary.org/obo/MONDO_0004690	tonsillar fossa cancer	http://purl.obolibrary.org/obo/MONDO_0006998	tonsil cancer		A cancer involving a tonsillar fossa.
http://purl.obolibrary.org/obo/MONDO_0004691	autosomal dominant polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0020642	polycystic kidney disease		Autosomal dominant form of polycystic kidney disease.
http://purl.obolibrary.org/obo/MONDO_0004693	squamous carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.
http://purl.obolibrary.org/obo/MONDO_0004694	hepatopulmonary syndrome	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases.
http://purl.obolibrary.org/obo/MONDO_0004695	liver lymphoma	http://purl.obolibrary.org/obo/MONDO_0004699	gastrointestinal lymphoma		A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.
http://purl.obolibrary.org/obo/MONDO_0004696	larynx carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004647	in situ carcinoma		A in situ carcinoma that involves the larynx.
http://purl.obolibrary.org/obo/MONDO_0004697	esophageal leukoplakia	http://purl.obolibrary.org/obo/MONDO_0043243	leukoplakia		A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004698	intestine carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A carcinoma in situ involving a intestine.
http://purl.obolibrary.org/obo/MONDO_0004699	gastrointestinal lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.
http://purl.obolibrary.org/obo/MONDO_0004700	parotid gland cancer	http://purl.obolibrary.org/obo/MONDO_0044743	major salivary gland cancer		A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0004701	uterine polyp	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.
http://purl.obolibrary.org/obo/MONDO_0004702	uterine cervix leukoplakia	http://purl.obolibrary.org/obo/MONDO_0043243	leukoplakia		The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.
http://purl.obolibrary.org/obo/MONDO_0004703	bladder carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0006111	bladder flat intraepithelial lesion		Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)
http://purl.obolibrary.org/obo/MONDO_0004705	liver solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.
http://purl.obolibrary.org/obo/MONDO_0004707	anal canal carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0007108	anal canal carcinoma		A carcinoma in situ involving a anal canal.
http://purl.obolibrary.org/obo/MONDO_0004708	esophagus carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0019086	carcinoma of esophagus		Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)
http://purl.obolibrary.org/obo/MONDO_0004709	occipital lobe neoplasm	http://purl.obolibrary.org/obo/MONDO_0044996	cerebral cortex disorder		A neoplasm involving a occipital lobe.
http://purl.obolibrary.org/obo/MONDO_0004710	uterus carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0005213	uterine carcinoma		A carcinoma in situ involving a uterus.
http://purl.obolibrary.org/obo/MONDO_0004712	herpes simplex dermatitis	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.
http://purl.obolibrary.org/obo/MONDO_0004713	lower gum cancer	http://purl.obolibrary.org/obo/MONDO_0005507	gingival cancer		A cancer involving a gingiva of lower jaw.
http://purl.obolibrary.org/obo/MONDO_0004714	atrophic muscular disease	http://purl.obolibrary.org/obo/MONDO_0019056	neuromuscular disease		A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.
http://purl.obolibrary.org/obo/MONDO_0004715	liver carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0018531	carcinoma of liver and intrahepatic biliary tract		A carcinoma in situ involving a liver.
http://purl.obolibrary.org/obo/MONDO_0004716	stomach carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma		A in situ carcinoma that involves the stomach.
http://purl.obolibrary.org/obo/MONDO_0004717	peliosis hepatis	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.
http://purl.obolibrary.org/obo/MONDO_0004719	hard palate cancer	http://purl.obolibrary.org/obo/MONDO_0005627	head and neck cancer		A malignant neoplasm involving the hard palate.
http://purl.obolibrary.org/obo/MONDO_0004720	variola minor infection	http://purl.obolibrary.org/obo/MONDO_0004651	smallpox		A orthopoxvirus that causes a milder clinical syndrome than smallpox.
http://purl.obolibrary.org/obo/MONDO_0004723	liver leiomyoma	http://purl.obolibrary.org/obo/MONDO_0859689	hepatobiliary benign neoplasm		A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0004724	submandibular gland cancer	http://purl.obolibrary.org/obo/MONDO_0021244	submandibular gland neoplasm		A malignant neoplasm involving the submandibular gland.
http://purl.obolibrary.org/obo/MONDO_0004725	rectum carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0044937	rectal carcinoma		A in situ carcinoma that involves the rectum.
http://purl.obolibrary.org/obo/MONDO_0004726	liver inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.
http://purl.obolibrary.org/obo/MONDO_0004727	vestibule of mouth cancer	http://purl.obolibrary.org/obo/MONDO_0005515	oral cavity cancer		A cancer that involves the oral opening.
http://purl.obolibrary.org/obo/MONDO_0004729	dyskinesia of esophagus	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).
http://purl.obolibrary.org/obo/MONDO_0004730	speech disorder	http://purl.obolibrary.org/obo/MONDO_0002182	communication disorder		A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
http://purl.obolibrary.org/obo/MONDO_0004731	central sleep apnea syndrome	http://purl.obolibrary.org/obo/MONDO_0005296	sleep apnea syndrome		A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.
http://purl.obolibrary.org/obo/MONDO_0004732	kidney carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0005206	renal carcinoma		A carcinoma in situ involving a kidney.
http://purl.obolibrary.org/obo/MONDO_0004733	pyriform sinus cancer	http://purl.obolibrary.org/obo/MONDO_0005806	hypopharynx cancer		A primary or metastatic malignant neoplasm that affects the pyriform sinus.
http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism	http://purl.obolibrary.org/obo/MONDO_0037871	amino acid metabolism disease		An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
http://purl.obolibrary.org/obo/MONDO_0004737	homocystinuria	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.
http://purl.obolibrary.org/obo/MONDO_0004739	urea cycle disorder	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
http://purl.obolibrary.org/obo/MONDO_0004741	tyrosinemia	http://purl.obolibrary.org/obo/MONDO_0017307	disorder of tyrosine metabolism		An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.
http://purl.obolibrary.org/obo/MONDO_0004743	hyperhomocysteinemia	http://purl.obolibrary.org/obo/MONDO_0004737	homocystinuria		A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.
http://purl.obolibrary.org/obo/MONDO_0004745	priapism	http://purl.obolibrary.org/obo/MONDO_0005362	erectile dysfunction		Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.
http://purl.obolibrary.org/obo/MONDO_0004746	myopathy of extraocular muscle	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		A myopathy that involves the extra-ocular muscle.
http://purl.obolibrary.org/obo/MONDO_0004747	cleft lip	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.
http://purl.obolibrary.org/obo/MONDO_0004748	lip disorder	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A disease involving the lip.
http://purl.obolibrary.org/obo/MONDO_0004749	myocardium cancer	http://purl.obolibrary.org/obo/MONDO_0021380	neoplasm of myocardium		A malignant neoplasm involving the myocardium.
http://purl.obolibrary.org/obo/MONDO_0004750	language disorder	http://purl.obolibrary.org/obo/MONDO_0002182	communication disorder		A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.
http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa	http://purl.obolibrary.org/obo/MONDO_0000462	eye adnexa disorder		Diseases of the bony orbit and contents except the eyeball.
http://purl.obolibrary.org/obo/MONDO_0004752	neurofibroma of the heart	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A rare neurofibroma that affects the heart.
http://purl.obolibrary.org/obo/MONDO_0004754	rectal prolapse	http://purl.obolibrary.org/obo/MONDO_0001593	rectal disorder		Protrusion of the rectum through the anus.
http://purl.obolibrary.org/obo/MONDO_0004755	monieziasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infection of ruminants with tapeworms of the genus Moniezia.
http://purl.obolibrary.org/obo/MONDO_0004756	nasal cavity neoplasm	http://purl.obolibrary.org/obo/MONDO_0020641	respiratory tract neoplasm		A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0004757	chronic ethmoidal sinusitis	http://purl.obolibrary.org/obo/MONDO_0006031	chronic rhinosinusitis		Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.
http://purl.obolibrary.org/obo/MONDO_0004758	scotoma	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions.
http://purl.obolibrary.org/obo/MONDO_0004762	pelvic congestion syndrome	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		A uterine disorder characterised by chronic pelvic pain caused by reflux or obstruction of the ovarian or pelvic veins, often associated with pelvic or vulvar varicosities.
http://purl.obolibrary.org/obo/MONDO_0004763	carotid artery dissection	http://purl.obolibrary.org/obo/MONDO_0005269	carotid artery disorder		Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.
http://purl.obolibrary.org/obo/MONDO_0004765	intrinsic asthma	http://purl.obolibrary.org/obo/MONDO_0004979	asthma		An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.
http://purl.obolibrary.org/obo/MONDO_0004766	status asthmaticus	http://purl.obolibrary.org/obo/MONDO_0004979	asthma		An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators.
http://purl.obolibrary.org/obo/MONDO_0004767	vesiculitis	http://purl.obolibrary.org/obo/MONDO_0006882	orchitis		An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.
http://purl.obolibrary.org/obo/MONDO_0004768	keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0003799	conjunctivitis		Inflammation of both the cornea and the conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0004769	orbital pseudotumor	http://purl.obolibrary.org/obo/MONDO_0001849	chronic orbital inflammation		A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).
http://purl.obolibrary.org/obo/MONDO_0004770	exophthalmos	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		The anterior displacement of the eye within the orbit, giving a bulging appearance.
http://purl.obolibrary.org/obo/MONDO_0004773	iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0006814	iritis		An inflammation of the iris and the ciliary body
http://purl.obolibrary.org/obo/MONDO_0004774	gonococcal iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0017210	infectious anterior uveitis		An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.
http://purl.obolibrary.org/obo/MONDO_0004777	acute laryngitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.
http://purl.obolibrary.org/obo/MONDO_0004778	epididymo-orchitis	http://purl.obolibrary.org/obo/MONDO_0006882	orchitis		A disorder involving inflammation of the epididymis and testes.
http://purl.obolibrary.org/obo/MONDO_0004779	epididymitis	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord.
http://purl.obolibrary.org/obo/MONDO_0004781	acute myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations.
http://purl.obolibrary.org/obo/MONDO_0004782	diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.
http://purl.obolibrary.org/obo/MONDO_0004784	allergic asthma	http://purl.obolibrary.org/obo/MONDO_0004979	asthma		A asthma with a basis in a pathological type I hypersensitivity reaction.
http://purl.obolibrary.org/obo/MONDO_0004785	blepharitis	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		Inflammation of the eyelids near the eyelashes.
http://purl.obolibrary.org/obo/MONDO_0004786	chronic cholangitis	http://purl.obolibrary.org/obo/MONDO_0004789	cholangitis		Cholangitis that is persistent and long-standing.
http://purl.obolibrary.org/obo/MONDO_0004787	cervical mullerian papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	papilloma		A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0004788	cervix squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0001825	squamous papilloma		A papilloma that arises from the squamous epithelium of the cervix.
http://purl.obolibrary.org/obo/MONDO_0004789	cholangitis	http://purl.obolibrary.org/obo/MONDO_0006322	non-neoplastic bile duct disorder		An acute or chronic inflammatory process affecting the biliary tract.
http://purl.obolibrary.org/obo/MONDO_0004790	fatty liver disease	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.
http://purl.obolibrary.org/obo/MONDO_0004792	cancer of isthmus of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0002158	fallopian tube cancer		A cancer that involves the UBERON:0016632.
http://purl.obolibrary.org/obo/MONDO_0004795	otitis externa	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.
http://purl.obolibrary.org/obo/MONDO_0004796	infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.
http://purl.obolibrary.org/obo/MONDO_0004797	mononeuritis of lower limb	http://purl.obolibrary.org/obo/MONDO_0002121	mononeuritis simplex		A mononeuritis simplex that involves the hindlimb.
http://purl.obolibrary.org/obo/MONDO_0004800	chronic dacryoadenitis	http://purl.obolibrary.org/obo/MONDO_0004804	dacryoadenitis		Chronic form of dacryoadenitis.
http://purl.obolibrary.org/obo/MONDO_0004802	pulmonary eosinophilia	http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome		A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.
http://purl.obolibrary.org/obo/MONDO_0004804	dacryoadenitis	http://purl.obolibrary.org/obo/MONDO_0024625	disorder of lacrimal gland		Inflammation and enlargement of the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0004805	leukocyte disorder	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		A disease involving leukocytes.
http://purl.obolibrary.org/obo/MONDO_0004806	chronic eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0005749	eosinophilic pneumonia		Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.
http://purl.obolibrary.org/obo/MONDO_0004810	acute ethmoiditis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of ethmoid sinusitis.
http://purl.obolibrary.org/obo/MONDO_0004812	acute dacryoadenitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of dacryoadenitis.
http://purl.obolibrary.org/obo/MONDO_0004813	tuberculous pneumothorax	http://purl.obolibrary.org/obo/MONDO_0005922	pleural tuberculosis		A pneumothorax caused by tuberculosis infection, typically resulting from rupture of a cavitary tuberculous lesion into the pleural space.
http://purl.obolibrary.org/obo/MONDO_0004815	osteosclerotic plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0009693	plasma cell myeloma		A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.
http://purl.obolibrary.org/obo/MONDO_0004816	refractory plasma cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004959	plasma cell neoplasm		A plasma cell neoplasm that is resistant to treatment.
http://purl.obolibrary.org/obo/MONDO_0004817	non-secretory plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0009693	plasma cell myeloma		A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.
http://purl.obolibrary.org/obo/MONDO_0004820	peripheral nerve schwannoma	http://purl.obolibrary.org/obo/MONDO_0002546	schwannoma		A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.
http://purl.obolibrary.org/obo/MONDO_0004821	nasopharyngeal disorder	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.
http://purl.obolibrary.org/obo/MONDO_0004822	bronchiectasis	http://purl.obolibrary.org/obo/MONDO_0005002	chronic obstructive pulmonary disease		Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.
http://purl.obolibrary.org/obo/MONDO_0004824	neonatal candidiasis	http://purl.obolibrary.org/obo/MONDO_0002026	candidiasis		A fungal infection by any of the Candida species in a newborn infant up to 28 days old.
http://purl.obolibrary.org/obo/MONDO_0004826	urethral calculus	http://purl.obolibrary.org/obo/MONDO_0004828	lower urinary tract calculus		A concretion in the urethra.
http://purl.obolibrary.org/obo/MONDO_0004827	esophagus squamous cell papilloma	http://purl.obolibrary.org/obo/MONDO_0021459	benign neoplasm of esophagus		A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.
http://purl.obolibrary.org/obo/MONDO_0004828	lower urinary tract calculus	http://purl.obolibrary.org/obo/MONDO_0024647	urolithiasis		A urolithiasis that involves the lower urinary tract.
http://purl.obolibrary.org/obo/MONDO_0004829	Krukenberg carcinoma	http://purl.obolibrary.org/obo/MONDO_0024879	metastatic carcinoma		Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast.
http://purl.obolibrary.org/obo/MONDO_0004830	fasciitis	http://purl.obolibrary.org/obo/MONDO_0003900	connective tissue disorder		Inflammation process in fascia.
http://purl.obolibrary.org/obo/MONDO_0004831	proliferative fasciitis	http://purl.obolibrary.org/obo/MONDO_0004830	fasciitis		A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.
http://purl.obolibrary.org/obo/MONDO_0004832	esophagus leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021459	benign neoplasm of esophagus		A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.
http://purl.obolibrary.org/obo/MONDO_0004833	plantar fasciitis	http://purl.obolibrary.org/obo/MONDO_0004830	fasciitis		Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.
http://purl.obolibrary.org/obo/MONDO_0004834	ischemic fasciitis	http://purl.obolibrary.org/obo/MONDO_0004830	fasciitis		A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.
http://purl.obolibrary.org/obo/MONDO_0004835	necrotizing fasciitis	http://purl.obolibrary.org/obo/MONDO_0004830	fasciitis		Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.
http://purl.obolibrary.org/obo/MONDO_0004836	intravascular fasciitis	http://purl.obolibrary.org/obo/MONDO_0004187	nodular fasciitis		A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0004837	neurofibroma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0021355	neoplasm of esophagus		A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.
http://purl.obolibrary.org/obo/MONDO_0004841	kidney hypertrophy	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Global enlargement of the renal parenchyma in one or both kidneys.
http://purl.obolibrary.org/obo/MONDO_0004842	stomatitis	http://purl.obolibrary.org/obo/MONDO_0044992	mouth mucosa disorder		Inflammation of the oral mucosa due to local or systemic factors.
http://purl.obolibrary.org/obo/MONDO_0004843	pathologic nystagmus	http://purl.obolibrary.org/obo/MONDO_0001584	ocular motility disease		Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.
http://purl.obolibrary.org/obo/MONDO_0004844	oral mucosa leukoplakia	http://purl.obolibrary.org/obo/MONDO_0044992	mouth mucosa disorder		A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.
http://purl.obolibrary.org/obo/MONDO_0004845	aphthous stomatitis	http://purl.obolibrary.org/obo/MONDO_0004842	stomatitis		A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.
http://purl.obolibrary.org/obo/MONDO_0004846	placental abruption	http://purl.obolibrary.org/obo/MONDO_0005917	placenta disorder		Vaginal bleeding preceding the 20th week of gestation.
http://purl.obolibrary.org/obo/MONDO_0004847	senile cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract with no obvious cause occurring in persons over 50 years old.
http://purl.obolibrary.org/obo/MONDO_0004848	ulcerative stomatitis	http://purl.obolibrary.org/obo/MONDO_0004842	stomatitis		Inflammation of the mouth mucosa associated with the presence of ulcers.
http://purl.obolibrary.org/obo/MONDO_0004849	pulmonary emphysema	http://purl.obolibrary.org/obo/MONDO_0005002	chronic obstructive pulmonary disease		A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
http://purl.obolibrary.org/obo/MONDO_0004854	ophthalmia neonatorum	http://purl.obolibrary.org/obo/MONDO_0015455	gonococcal conjunctivitis		Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.
http://purl.obolibrary.org/obo/MONDO_0004855	tenosynovitis	http://purl.obolibrary.org/obo/MONDO_0024876	tendon sheath disorder		Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.
http://purl.obolibrary.org/obo/MONDO_0004857	tendinitis	http://purl.obolibrary.org/obo/MONDO_0100010	disease of the tendon		Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.
http://purl.obolibrary.org/obo/MONDO_0004858	occlusion of gallbladder	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		Blockage of the normal flow of the contents of the gallbladder.
http://purl.obolibrary.org/obo/MONDO_0004860	vitreous disorder	http://purl.obolibrary.org/obo/MONDO_0044137	vitreous body disorder		A disease involving the vitreous humor.
http://purl.obolibrary.org/obo/MONDO_0004864	acute allergic mucoid otitis media	http://purl.obolibrary.org/obo/MONDO_0004865	blue drum syndrome		A blue drum syndrome caused by an allergen.
http://purl.obolibrary.org/obo/MONDO_0004865	blue drum syndrome	http://purl.obolibrary.org/obo/MONDO_0002738	acute transudative otitis media		A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.
http://purl.obolibrary.org/obo/MONDO_0004866	eustachian tube disorder	http://purl.obolibrary.org/obo/MONDO_0003276	middle ear disorder		A disease involving the pharyngotympanic tube.
http://purl.obolibrary.org/obo/MONDO_0004867	upper respiratory tract disorder	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A disease involving the upper respiratory tract.
http://purl.obolibrary.org/obo/MONDO_0004868	biliary tract disorder	http://purl.obolibrary.org/obo/MONDO_0002515	hepatobiliary disorder		A disease involving the biliary tree.
http://purl.obolibrary.org/obo/MONDO_0004869	pelvic varices	http://purl.obolibrary.org/obo/MONDO_0008638	varicose disease		A varicose disease that involves the pelvic region of trunk.
http://purl.obolibrary.org/obo/MONDO_0004872	hemorrhoid	http://purl.obolibrary.org/obo/MONDO_0004869	pelvic varices		Dilated veins in the anal canal.
http://purl.obolibrary.org/obo/MONDO_0004873	internal hemorrhoid	http://purl.obolibrary.org/obo/MONDO_0004872	hemorrhoid		A hemorrhoid which originates above the dentate line.
http://purl.obolibrary.org/obo/MONDO_0004875	xanthogranulomatous cholecystitis	http://purl.obolibrary.org/obo/MONDO_0002155	cholecystitis		Cholecystitis that is characterized by nodules containing lipid.
http://purl.obolibrary.org/obo/MONDO_0004876	myocardial stunning	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.
http://purl.obolibrary.org/obo/MONDO_0004880	bowel dysfunction	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.
http://purl.obolibrary.org/obo/MONDO_0004881	myositis fibrosa	http://purl.obolibrary.org/obo/MONDO_0021167	myositis disease		A form of myositis that is characterized by the formation of connective tissue within the muscle.
http://purl.obolibrary.org/obo/MONDO_0004882	angioid streaks of choroid	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A angioid streaks that involves the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0004884	eye degenerative disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A neurodegenerative disease that involves the eye.
http://purl.obolibrary.org/obo/MONDO_0004885	choroidal sclerosis	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A neurodegenerative disease that involves the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0004891	hyperopia	http://purl.obolibrary.org/obo/MONDO_0004892	refractive error		A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0004892	refractive error	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.
http://purl.obolibrary.org/obo/MONDO_0004893	hypertropia	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.
http://purl.obolibrary.org/obo/MONDO_0004896	esotropia	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		A form of strabismus in which one or both eyes are deviated medially.
http://purl.obolibrary.org/obo/MONDO_0004897	hypotropia	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.
http://purl.obolibrary.org/obo/MONDO_0004901	lingual-facial-buccal dyskinesia	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
http://purl.obolibrary.org/obo/MONDO_0004905	intestinal disaccharidase deficiency	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.
http://purl.obolibrary.org/obo/MONDO_0004907	alopecia	http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly		Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.
http://purl.obolibrary.org/obo/MONDO_0004910	mitral valve prolapse	http://purl.obolibrary.org/obo/MONDO_0003767	mitral valve disorder		A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.
http://purl.obolibrary.org/obo/MONDO_0004911	cardiovascular syphilis	http://purl.obolibrary.org/obo/MONDO_0004497	tertiary syphilis		A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.
http://purl.obolibrary.org/obo/MONDO_0004917	internal hordeolum	http://purl.obolibrary.org/obo/MONDO_0024481	skin appendage disorder		A hordeolum that results from infection of a meibomian gland.
http://purl.obolibrary.org/obo/MONDO_0004919	infected hydrocele	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		A hydrocele that has active infection and inflammation of the fluid-filled sac surrounding a testicle, caused by microbial invasion, with clinical features such as pain, swelling, redness, or systemic signs of infection. The infection often arises from contiguous genitourinary or anorectal sources and is confirmed by microbiological evidence.
http://purl.obolibrary.org/obo/MONDO_0004922	developmental coordination disorder	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.
http://purl.obolibrary.org/obo/MONDO_0004924	chronic canaliculitis	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		Chronic form of actinomycosis.
http://purl.obolibrary.org/obo/MONDO_0004925	chronic dacryocystitis	http://purl.obolibrary.org/obo/MONDO_0004926	dacryocystitis		Chronic form of dacryocystitis.
http://purl.obolibrary.org/obo/MONDO_0004926	dacryocystitis	http://purl.obolibrary.org/obo/MONDO_0044984	nasolacrimal duct disorder		Inflammation of the lacrimal sac.
http://purl.obolibrary.org/obo/MONDO_0004927	dacryocystocele	http://purl.obolibrary.org/obo/MONDO_0004923	chronic inflammation of lacrimal passage		A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.
http://purl.obolibrary.org/obo/MONDO_0004928	lymph node disorder	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		Any disorder of the lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0004933	hypoplastic left heart syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.
http://purl.obolibrary.org/obo/MONDO_0004934	periostitis	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0004936	uterine inversion	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0004938	substance dependence	http://purl.obolibrary.org/obo/MONDO_0002494	substance-related disorder		The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.
http://purl.obolibrary.org/obo/MONDO_0004939	hallucinogen dependence	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		A drug dependence for a hallucinogenic substance.
http://purl.obolibrary.org/obo/MONDO_0004941	eosinophilia-myalgia syndrome	http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome		A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)
http://purl.obolibrary.org/obo/MONDO_0004942	orbit lymphoma	http://purl.obolibrary.org/obo/MONDO_0002889	orbital cancer		A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.
http://purl.obolibrary.org/obo/MONDO_0004943	orbit sarcoma	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.
http://purl.obolibrary.org/obo/MONDO_0004944	neurosyphilis	http://purl.obolibrary.org/obo/MONDO_0004497	tertiary syphilis		Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.
http://purl.obolibrary.org/obo/MONDO_0004946	hypoglycemia	http://purl.obolibrary.org/obo/MONDO_0002908	glucose metabolism disease		Abnormally low level of glucose in the blood.
http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0015759	B-cell non-Hodgkin lymphoma		A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0004948	B-cell chronic lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0017594	indolent B-cell non-Hodgkin lymphoma		B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.
http://purl.obolibrary.org/obo/MONDO_0004949	neoplasm of mature B-cells	http://purl.obolibrary.org/obo/MONDO_0004095	B-cell neoplasm		A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).
http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A carcinoma that arises from epithelial cells of the stomach.
http://purl.obolibrary.org/obo/MONDO_0004952	Hodgkins lymphoma	http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder		A heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0004953	invasive ductal breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.
http://purl.obolibrary.org/obo/MONDO_0004956	metastatic prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_0005159	prostate carcinoma		A carcinoma that arises from the prostate gland and has spread to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0004957	mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.
http://purl.obolibrary.org/obo/MONDO_0004958	oral cavity squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.
http://purl.obolibrary.org/obo/MONDO_0004959	plasma cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004949	neoplasm of mature B-cells		A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.
http://purl.obolibrary.org/obo/MONDO_0004960	monoclonal gammopathy	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine.
http://purl.obolibrary.org/obo/MONDO_0004961	stage I endometrioid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005026	endometrioid adenocarcinoma		Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix.
http://purl.obolibrary.org/obo/MONDO_0004962	stage II endometrioid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005026	endometrioid adenocarcinoma		Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus.
http://purl.obolibrary.org/obo/MONDO_0004963	T-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0005525	T-cell leukemia		Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0004964	peripheral T-cell lymphoma, not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0005169	neoplasm of mature T-cells or NK-cells		Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant.
http://purl.obolibrary.org/obo/MONDO_0004965	acinar cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A carcinoma that arises from epithelial cells of the acinar cell
http://purl.obolibrary.org/obo/MONDO_0004966	gastritis	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		Inflammation of the stomach.
http://purl.obolibrary.org/obo/MONDO_0004967	acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.
http://purl.obolibrary.org/obo/MONDO_0004969	acute quadriplegic myopathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.
http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0004971	adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.
http://purl.obolibrary.org/obo/MONDO_0004972	adenoma	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.
http://purl.obolibrary.org/obo/MONDO_0004973	adenosquamous lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0056806	non-small cell squamous lung carcinoma		An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.
http://purl.obolibrary.org/obo/MONDO_0004974	adrenal gland pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0021072	sympathetic paraganglioma		A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.
http://purl.obolibrary.org/obo/MONDO_0004975	Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0005574	tauopathy		A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.
http://purl.obolibrary.org/obo/MONDO_0004976	amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0020128	motor neuron disorder		Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
http://purl.obolibrary.org/obo/MONDO_0004977	angioimmunoblastic T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0000430	mature T-cell and NK-cell non-Hodgkin lymphoma		A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive.
http://purl.obolibrary.org/obo/MONDO_0004979	asthma	http://purl.obolibrary.org/obo/MONDO_0001358	bronchial disorder		A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
http://purl.obolibrary.org/obo/MONDO_0004980	atopic eczema	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		A common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life.
http://purl.obolibrary.org/obo/MONDO_0004981	atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)
http://purl.obolibrary.org/obo/MONDO_0004982	pancreatitis	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		Inflammation of the pancreas.
http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure	http://purl.obolibrary.org/obo/MONDO_0005372	male infertility		A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.
http://purl.obolibrary.org/obo/MONDO_0004984	basal-like breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0005494	triple-negative breast carcinoma		A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0004985	bipolar disorder	http://purl.obolibrary.org/obo/MONDO_0005371	mood disorder		A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.
http://purl.obolibrary.org/obo/MONDO_0004986	urinary bladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that arises from epithelial cells of the urinary bladder
http://purl.obolibrary.org/obo/MONDO_0004987	urinary bladder neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm		A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003
http://purl.obolibrary.org/obo/MONDO_0004988	breast adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		A carcinoma that arises from glandular epithelial cells of the breast
http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0007254	breast cancer		A carcinoma that arises from epithelial cells of the breast
http://purl.obolibrary.org/obo/MONDO_0004990	breast tumor luminal A or B	http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile		Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0004991	minimally invasive lung adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.
http://purl.obolibrary.org/obo/MONDO_0004992	cancer	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.
http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.
http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
http://purl.obolibrary.org/obo/MONDO_0004995	cardiovascular disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the cardiovascular system.
http://purl.obolibrary.org/obo/MONDO_0004996	childhood acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Acute myeloid leukemia occurring in childhood.
http://purl.obolibrary.org/obo/MONDO_0004997	chondroblastoma	http://purl.obolibrary.org/obo/MONDO_0024470	benign chondrogenic neoplasm		A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.
http://purl.obolibrary.org/obo/MONDO_0005001	chronic gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		Inflammation of the stomach that is chronic in nature.
http://purl.obolibrary.org/obo/MONDO_0005002	chronic obstructive pulmonary disease	http://purl.obolibrary.org/obo/MONDO_0002567	tracheal disorder		A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.
http://purl.obolibrary.org/obo/MONDO_0005003	chronic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0004982	pancreatitis		A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0005004	clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.
http://purl.obolibrary.org/obo/MONDO_0005005	clear cell renal carcinoma	http://purl.obolibrary.org/obo/MONDO_0007763	nonpapillary renal cell carcinoma		A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.
http://purl.obolibrary.org/obo/MONDO_0005006	clear cell sarcoma of kidney	http://purl.obolibrary.org/obo/MONDO_0002930	kidney sarcoma		A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.
http://purl.obolibrary.org/obo/MONDO_0005007	colon mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	mucinous adenocarcinoma		An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.
http://purl.obolibrary.org/obo/MONDO_0005008	colorectal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024331	colorectal carcinoma		The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0005009	congestive heart failure	http://purl.obolibrary.org/obo/MONDO_0005252	heart failure		Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
http://purl.obolibrary.org/obo/MONDO_0005010	coronary artery disorder	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)
http://purl.obolibrary.org/obo/MONDO_0005011	Crohn disease	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.
http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma	http://purl.obolibrary.org/obo/MONDO_0021583	melanocytic skin neoplasm		A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.
http://purl.obolibrary.org/obo/MONDO_0005013	dedifferentiated chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0000515	bone chondrosarcoma		An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0005015	diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0002908	glucose metabolism disease		A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
http://purl.obolibrary.org/obo/MONDO_0005016	diabetic kidney disease	http://purl.obolibrary.org/obo/MONDO_0005300	chronic kidney disease		Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.
http://purl.obolibrary.org/obo/MONDO_0005017	diffuse gastric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0021652	diffuse type adenocarcinoma		An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.
http://purl.obolibrary.org/obo/MONDO_0005019	diffuse scleroderma	http://purl.obolibrary.org/obo/MONDO_0005100	systemic sclerosis		A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.
http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		A non-neoplastic or neoplastic disorder that affects the small or large intestine.
http://purl.obolibrary.org/obo/MONDO_0005021	dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0000591	intrinsic cardiomyopathy		Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.
http://purl.obolibrary.org/obo/MONDO_0005023	ductal breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0005590	breast ductal adenocarcinoma		A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.
http://purl.obolibrary.org/obo/MONDO_0005025	endocarditis	http://purl.obolibrary.org/obo/MONDO_0024636	inflammation of heart layer		Inflammation of the endocardium.
http://purl.obolibrary.org/obo/MONDO_0005026	endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.
http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
http://purl.obolibrary.org/obo/MONDO_0005028	esophageal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0019086	carcinoma of esophagus		A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0005029	essential thrombocythemia	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)
http://purl.obolibrary.org/obo/MONDO_0005030	fetal growth restriction	http://purl.obolibrary.org/obo/MONDO_0005917	placenta disorder		A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.
http://purl.obolibrary.org/obo/MONDO_0005031	fibromatosis	http://purl.obolibrary.org/obo/MONDO_0006209	fibroblastic neoplasm		A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.
http://purl.obolibrary.org/obo/MONDO_0005032	follicular thyroid adenoma	http://purl.obolibrary.org/obo/MONDO_0006107	benign thyroid gland neoplasm		A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.
http://purl.obolibrary.org/obo/MONDO_0005033	ganglioneuroma	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.
http://purl.obolibrary.org/obo/MONDO_0005034	thyroid gland follicular carcinoma	http://purl.obolibrary.org/obo/MONDO_0024622	thyroid gland adenocarcinoma		A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.
http://purl.obolibrary.org/obo/MONDO_0005035	ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0006316	neuroblastic tumor		A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.
http://purl.obolibrary.org/obo/MONDO_0005036	gastric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the stomach
http://purl.obolibrary.org/obo/MONDO_0005037	gastric intestinal type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006254	intestinal type adenocarcinoma		An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.
http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the reproductive system.
http://purl.obolibrary.org/obo/MONDO_0005040	germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.
http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.
http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia	http://purl.obolibrary.org/obo/MONDO_0045024	cancer or benign tumor		An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.
http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.
http://purl.obolibrary.org/obo/MONDO_0005045	hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0000591	intrinsic cardiomyopathy		A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disorder resulting from an abnormality in the immune system.
http://purl.obolibrary.org/obo/MONDO_0005047	infertility disorder	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
http://purl.obolibrary.org/obo/MONDO_0005048	pancreatic insulin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.
http://purl.obolibrary.org/obo/MONDO_0005050	invasive ductal and lobular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006306	mixed lobular and ductal breast carcinoma		An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.
http://purl.obolibrary.org/obo/MONDO_0005051	invasive lobular breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.
http://purl.obolibrary.org/obo/MONDO_0005052	irritable bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two).
http://purl.obolibrary.org/obo/MONDO_0005053	ischemic disease	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.
http://purl.obolibrary.org/obo/MONDO_0005055	Kaposi's sarcoma	http://purl.obolibrary.org/obo/MONDO_0015157	human herpesvirus 8-related tumor		A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).
http://purl.obolibrary.org/obo/MONDO_0005056	keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		Squamous cell carcinomas with morphologically prominent production of keratin.
http://purl.obolibrary.org/obo/MONDO_0005057	large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005232	large cell carcinoma		A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.
http://purl.obolibrary.org/obo/MONDO_0005058	leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.
http://purl.obolibrary.org/obo/MONDO_0005059	leukemia	http://purl.obolibrary.org/obo/MONDO_0044881	hematopoietic and lymphoid cell neoplasm		A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.
http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.
http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005233	non-small cell lung carcinoma		A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.
http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma	http://purl.obolibrary.org/obo/MONDO_0015757	lymphoid hemopathy		A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.
http://purl.obolibrary.org/obo/MONDO_0005063	medullary breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004953	invasive ductal breast carcinoma		An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.
http://purl.obolibrary.org/obo/MONDO_0005065	mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006856	mesothelial neoplasm		A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.
http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.
http://purl.obolibrary.org/obo/MONDO_0005067	monophasic synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0010434	synovial sarcoma		A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.
http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0024643	myocardial disorder		Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.
http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm	http://purl.obolibrary.org/obo/MONDO_0023370	neoplastic disease or syndrome		A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.
http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.
http://purl.obolibrary.org/obo/MONDO_0005072	neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.
http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus	http://purl.obolibrary.org/obo/MONDO_0021583	melanocytic skin neoplasm		A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.
http://purl.obolibrary.org/obo/MONDO_0005074	papillary cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006349	papillary cystic neoplasm		A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.
http://purl.obolibrary.org/obo/MONDO_0005075	thyroid gland papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0024622	thyroid gland adenocarcinoma		A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.
http://purl.obolibrary.org/obo/MONDO_0005076	periodontitis	http://purl.obolibrary.org/obo/MONDO_0002635	periodontal disorder		An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.
http://purl.obolibrary.org/obo/MONDO_0005077	pertussis	http://purl.obolibrary.org/obo/MONDO_0037872	bordetellosis		A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.
http://purl.obolibrary.org/obo/MONDO_0005078	phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0021045	fibroepithelial neoplasm		A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.
http://purl.obolibrary.org/obo/MONDO_0005079	polyp	http://purl.obolibrary.org/obo/MONDO_0045024	cancer or benign tumor		A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.
http://purl.obolibrary.org/obo/MONDO_0005080	portal hypertension	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0005081	preeclampsia	http://purl.obolibrary.org/obo/MONDO_0045048	toxemia of pregnancy		Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.
http://purl.obolibrary.org/obo/MONDO_0005082	prostate adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005159	prostate carcinoma		A carcinoma that arises from glandular epithelial cells of the prostate gland
http://purl.obolibrary.org/obo/MONDO_0005083	psoriasis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.
http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disease that has its basis in the disruption of mental process.
http://purl.obolibrary.org/obo/MONDO_0005085	pterygium	http://purl.obolibrary.org/obo/MONDO_0100581	ocular growth disorder		A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.
http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005206	renal carcinoma		A carcinoma that arises from glandular epithelial cells of the kidney
http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.
http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia	http://purl.obolibrary.org/obo/MONDO_0005485	psychotic disorder		A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.
http://purl.obolibrary.org/obo/MONDO_0005091	severe acute respiratory syndrome	http://purl.obolibrary.org/obo/MONDO_0020753	Orthocoronavirinae infectious disease		A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.
http://purl.obolibrary.org/obo/MONDO_0005092	signet ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.
http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.
http://purl.obolibrary.org/obo/MONDO_0005094	hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0002789	hemangiopericytic tumor		An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.
http://purl.obolibrary.org/obo/MONDO_0005095	spondyloarthropathy	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.
http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005097	squamous cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0005138	lung carcinoma		A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005098	stroke disorder	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.
http://purl.obolibrary.org/obo/MONDO_0005099	subarachnoid hemorrhage	http://purl.obolibrary.org/obo/MONDO_1060199	hemorrhagic stroke		A serious neurological disorder characterized by intracranial hemorrhage into the subarachnoid space.
http://purl.obolibrary.org/obo/MONDO_0005100	systemic sclerosis	http://purl.obolibrary.org/obo/MONDO_0019340	scleroderma		A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.
http://purl.obolibrary.org/obo/MONDO_0005101	ulcerative colitis	http://purl.obolibrary.org/obo/MONDO_0005292	colitis		An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0005102	undifferentiated (embryonal) sarcoma	http://purl.obolibrary.org/obo/MONDO_0002397	liver sarcoma		An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells.
http://purl.obolibrary.org/obo/MONDO_0005103	well-differentiated liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.
http://purl.obolibrary.org/obo/MONDO_0005104	sarcoma G1	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		A sarcoma with a total score of 2 or 3 according to the FNCLCC guidelines.
http://purl.obolibrary.org/obo/MONDO_0005105	melanoma	http://purl.obolibrary.org/obo/MONDO_0021143	melanocytic neoplasm		A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.
http://purl.obolibrary.org/obo/MONDO_0005106	lipoma	http://purl.obolibrary.org/obo/MONDO_0044983	benign lipomatous neoplasm		A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.
http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		Any disease caused by a virus.
http://purl.obolibrary.org/obo/MONDO_0005109	HIV infectious disease	http://purl.obolibrary.org/obo/MONDO_0022034	lentivirus infection		An infection caused by the human immunodeficiency virus.
http://purl.obolibrary.org/obo/MONDO_0005110	idiopathic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A disease of the heart muscle or myocardium proper whose cause is unknown.
http://purl.obolibrary.org/obo/MONDO_0005111	Epstein-Barr virus infection	http://purl.obolibrary.org/obo/MONDO_0005794	Herpesviridae infectious disease		An infection that is caused by Epstein-Barr virus.
http://purl.obolibrary.org/obo/MONDO_0005112	malignant pleural mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006294	pleural cancer		A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.
http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.
http://purl.obolibrary.org/obo/MONDO_0005114	pneumococcal infection	http://purl.obolibrary.org/obo/MONDO_0021680	streptococcal infection		Infections with bacteria of the species streptococcus pneumoniae.
http://purl.obolibrary.org/obo/MONDO_0005115	temporal lobe epilepsy	http://purl.obolibrary.org/obo/MONDO_0017704	familial partial epilepsy		A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)
http://purl.obolibrary.org/obo/MONDO_0005116	Whipple disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.
http://purl.obolibrary.org/obo/MONDO_0005117	Aeromonas hydrophila infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.
http://purl.obolibrary.org/obo/MONDO_0005118	human granulocytic anaplasmosis	http://purl.obolibrary.org/obo/MONDO_0006922	Anaplasmataceae infectious disease		A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.
http://purl.obolibrary.org/obo/MONDO_0005119	anthrax infection	http://purl.obolibrary.org/obo/MONDO_0006923	Bacillaceae infectious disease		An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.
http://purl.obolibrary.org/obo/MONDO_0005120	Drosophila C virus infection	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses.
http://purl.obolibrary.org/obo/MONDO_0005121	Enterococcus faecalis infection	http://purl.obolibrary.org/obo/MONDO_1040019	Enterococcus infectious disease		A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.
http://purl.obolibrary.org/obo/MONDO_0005122	Pectobacterium carotovorum infection	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).
http://purl.obolibrary.org/obo/MONDO_0005124	leprosy	http://purl.obolibrary.org/obo/MONDO_0020590	mycobacterial infectious disease		Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.
http://purl.obolibrary.org/obo/MONDO_0005125	borderline leprosy	http://purl.obolibrary.org/obo/MONDO_0005124	leprosy		A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.
http://purl.obolibrary.org/obo/MONDO_0005126	tuberculoid leprosy	http://purl.obolibrary.org/obo/MONDO_0005124	leprosy		A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.
http://purl.obolibrary.org/obo/MONDO_0005127	lepromatous leprosy	http://purl.obolibrary.org/obo/MONDO_0005124	leprosy		A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.
http://purl.obolibrary.org/obo/MONDO_0005129	cataract	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)
http://purl.obolibrary.org/obo/MONDO_0005130	celiac disease	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.
http://purl.obolibrary.org/obo/MONDO_0005131	cervical carcinoma	http://purl.obolibrary.org/obo/MONDO_0005213	uterine carcinoma		A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005132	cytomegalovirus infection	http://purl.obolibrary.org/obo/MONDO_0005794	Herpesviridae infectious disease		A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.
http://purl.obolibrary.org/obo/MONDO_0005133	endometriosis	http://purl.obolibrary.org/obo/MONDO_0000931	endometrial disorder		The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.
http://purl.obolibrary.org/obo/MONDO_0005134	experimental autoimmune encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.
http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		A successful invasion of a host by an organism that uses the host for food and shelter.
http://purl.obolibrary.org/obo/MONDO_0005136	malaria	http://purl.obolibrary.org/obo/MONDO_0044347	erythrocyte disorder		Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.
http://purl.obolibrary.org/obo/MONDO_0005137	nutritional disorder	http://purl.obolibrary.org/obo/MONDO_7770008	disease by etiologic mechanism		Any condition related to a disturbance between proper intake and utilization of nourishment.
http://purl.obolibrary.org/obo/MONDO_0005138	lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0008903	lung cancer		A carcinoma that arises from epithelial cells of the lung
http://purl.obolibrary.org/obo/MONDO_0005139	morbid obesity	http://purl.obolibrary.org/obo/MONDO_0011122	obesity disorder		An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.
http://purl.obolibrary.org/obo/MONDO_0005140	ovarian carcinoma	http://purl.obolibrary.org/obo/MONDO_0018364	malignant epithelial tumor of ovary		A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002
http://purl.obolibrary.org/obo/MONDO_0005141	Pseudomonas infection	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the genus pseudomonas.
http://purl.obolibrary.org/obo/MONDO_0005142	Pseudomonas aeruginosa CF5 infection	http://purl.obolibrary.org/obo/MONDO_0040732	Pseudomonas aeruginosa infectious disease		A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.
http://purl.obolibrary.org/obo/MONDO_0005143	Pseudomonas aeruginosa PA14 infection	http://purl.obolibrary.org/obo/MONDO_0040732	Pseudomonas aeruginosa infectious disease		A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.
http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0005145	sporadic amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0004976	amyotrophic lateral sclerosis		Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.
http://purl.obolibrary.org/obo/MONDO_0005146	post-traumatic stress disorder	http://purl.obolibrary.org/obo/MONDO_0005379	neurotic disorder		An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.
http://purl.obolibrary.org/obo/MONDO_0005147	type 1 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0005015	diabetes mellitus		A chronic condition characterized by minimal or absent production of insulin by the pancreas.
http://purl.obolibrary.org/obo/MONDO_0005148	type 2 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0005015	diabetes mellitus		A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.
http://purl.obolibrary.org/obo/MONDO_0005149	pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		Increased pressure within the pulmonary circulation due to lung or heart disorder.
http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the endocrine system.
http://purl.obolibrary.org/obo/MONDO_0005152	hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0003381	pituitary gland disorder		A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.
http://purl.obolibrary.org/obo/MONDO_0005153	cervical adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005131	cervical carcinoma		An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.
http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A disease involving the liver.
http://purl.obolibrary.org/obo/MONDO_0005155	cirrhosis of liver	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.
http://purl.obolibrary.org/obo/MONDO_0005156	encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		Inflammation of the brain and the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0005157	lymphoid neoplasm	http://purl.obolibrary.org/obo/MONDO_0044881	hematopoietic and lymphoid cell neoplasm		A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.
http://purl.obolibrary.org/obo/MONDO_0005159	prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_0008315	prostate cancer		A carcinoma that arises from epithelial cells of the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0005160	aortic aneurysm	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.
http://purl.obolibrary.org/obo/MONDO_0005161	human papilloma virus infection	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.
http://purl.obolibrary.org/obo/MONDO_0005163	simian immunodeficiency virus infection	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus.
http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.
http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0005166	osteoma	http://purl.obolibrary.org/obo/MONDO_0000631	bone benign neoplasm		A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.
http://purl.obolibrary.org/obo/MONDO_0005167	fibroma	http://purl.obolibrary.org/obo/MONDO_0006209	fibroblastic neoplasm		A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.
http://purl.obolibrary.org/obo/MONDO_0005168	neoplasm of immature B and T cells	http://purl.obolibrary.org/obo/MONDO_0005157	lymphoid neoplasm		A neoplasm arising from immature B and T cells
http://purl.obolibrary.org/obo/MONDO_0005169	neoplasm of mature T-cells or NK-cells	http://purl.obolibrary.org/obo/MONDO_0024615	T-cell and NK-cell neoplasm		A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.
http://purl.obolibrary.org/obo/MONDO_0005170	myeloid neoplasm	http://purl.obolibrary.org/obo/MONDO_0044881	hematopoietic and lymphoid cell neoplasm		Proliferation of myeloid cells originating from a primitive stem cell.
http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder	http://purl.obolibrary.org/obo/MONDO_0002081	musculoskeletal system disorder		A disease involving the skeletal system.
http://purl.obolibrary.org/obo/MONDO_0005173	actinic keratosis	http://purl.obolibrary.org/obo/MONDO_0002531	skin neoplasm		A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.
http://purl.obolibrary.org/obo/MONDO_0005174	acute hypotension	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of hypotension (disease).
http://purl.obolibrary.org/obo/MONDO_0005175	aggressive insulitis	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.
http://purl.obolibrary.org/obo/MONDO_0005176	benign insulitis	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.
http://purl.obolibrary.org/obo/MONDO_0005177	serous cystadenoma	http://purl.obolibrary.org/obo/MONDO_0002369	cystadenoma		A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion.
http://purl.obolibrary.org/obo/MONDO_0005178	osteoarthritis	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.
http://purl.obolibrary.org/obo/MONDO_0005179	ovarian adenoma benign	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A benign adenoma of ovary
http://purl.obolibrary.org/obo/MONDO_0005180	Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.
http://purl.obolibrary.org/obo/MONDO_0005181	progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
http://purl.obolibrary.org/obo/MONDO_0005182	serous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0005167	fibroma		A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.
http://purl.obolibrary.org/obo/MONDO_0005183	ovarian cystadenoma	http://purl.obolibrary.org/obo/MONDO_0005179	ovarian adenoma benign		A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells.
http://purl.obolibrary.org/obo/MONDO_0005184	pancreatic ductal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006047	pancreatic adenocarcinoma		An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0005185	chronic childhood arthritis	http://purl.obolibrary.org/obo/MONDO_0008383	rheumatoid arthritis		An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.
http://purl.obolibrary.org/obo/MONDO_0005186	cocaine dependence	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.
http://purl.obolibrary.org/obo/MONDO_0005187	human herpesvirus 8 infection	http://purl.obolibrary.org/obo/MONDO_0005794	Herpesviridae infectious disease		An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.
http://purl.obolibrary.org/obo/MONDO_0005188	iatrogenic Kaposi's sarcoma	http://purl.obolibrary.org/obo/MONDO_0043544	nosocomial infection		A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.
http://purl.obolibrary.org/obo/MONDO_0005189	internal carotid artery stenosis	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.
http://purl.obolibrary.org/obo/MONDO_0005191	metastatic melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.
http://purl.obolibrary.org/obo/MONDO_0005192	exocrine pancreatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A carcinoma that arises from epithelial cells of the exocrine pancreas
http://purl.obolibrary.org/obo/MONDO_0005193	prostate intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0021259	prostate neoplasm		A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.
http://purl.obolibrary.org/obo/MONDO_0005194	Rotavirus infection	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.
http://purl.obolibrary.org/obo/MONDO_0005195	septic peritonitis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.
http://purl.obolibrary.org/obo/MONDO_0005197	thymus neoplasm	http://purl.obolibrary.org/obo/MONDO_0003393	thymus gland disorder		A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005198	vulvar intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0002195	vulvar squamous neoplasm		Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.
http://purl.obolibrary.org/obo/MONDO_0005200	viral dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		An dilated cardiomyopathy caused by infection with Viruses.
http://purl.obolibrary.org/obo/MONDO_0005201	restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0000591	intrinsic cardiomyopathy		A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.
http://purl.obolibrary.org/obo/MONDO_0005202	atopic IgE-mediated allergic disorder	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.
http://purl.obolibrary.org/obo/MONDO_0005203	ischemia reperfusion injury	http://purl.obolibrary.org/obo/MONDO_0021178	injury		Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury.
http://purl.obolibrary.org/obo/MONDO_0005204	primary antiphospholipid syndrome	http://purl.obolibrary.org/obo/MONDO_8000010	antiphospholipid syndrome		An antiphospholipid syndrome that occurs as an isolated disorder.
http://purl.obolibrary.org/obo/MONDO_0005206	renal carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.
http://purl.obolibrary.org/obo/MONDO_0005207	choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005040	germ cell tumor		An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.
http://purl.obolibrary.org/obo/MONDO_0005208	amelanotic skin melanoma	http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma		An amelanotic melanoma that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0005210	uterine corpus sarcoma	http://purl.obolibrary.org/obo/MONDO_0006003	uterine corpus cancer		A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.
http://purl.obolibrary.org/obo/MONDO_0005211	ovarian serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024885	malignant ovarian serous tumor		An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.
http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.
http://purl.obolibrary.org/obo/MONDO_0005213	uterine carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma involving a uterus.
http://purl.obolibrary.org/obo/MONDO_0005214	vulva sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0005215	vulvar carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that arises from epithelial cells of the mammalian vulva
http://purl.obolibrary.org/obo/MONDO_0005216	hypopharyngeal carcinoma	http://purl.obolibrary.org/obo/MONDO_0021345	carcinoma of pharynx		Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.
http://purl.obolibrary.org/obo/MONDO_0005217	familial cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0005219	breast fibrocystic disease	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		Fibrosis associated with cyst formation in the breast parenchyma.
http://purl.obolibrary.org/obo/MONDO_0005220	collecting duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma		A carcinoma that arises from epithelial cells of the collecting duct of renal tubule
http://purl.obolibrary.org/obo/MONDO_0005221	renal pelvis urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0020654	renal pelvis/ureter urothelial carcinoma		A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.
http://purl.obolibrary.org/obo/MONDO_0005223	acute myeloid leukemia with minimal differentiation	http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification		An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0005224	acute myeloblastic leukemia without maturation	http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification		An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0005227	abscess	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.
http://purl.obolibrary.org/obo/MONDO_0005229	bacterial infectious disease with sepsis	http://purl.obolibrary.org/obo/MONDO_1040015	infectious disease with sepsis		An infectious disease caused by bacteria causing sepsis.
http://purl.obolibrary.org/obo/MONDO_0005230	cellulitis	http://purl.obolibrary.org/obo/MONDO_0006617	vesiculobullous skin disease		Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area.
http://purl.obolibrary.org/obo/MONDO_0005231	hepatitis C virus infection	http://purl.obolibrary.org/obo/MONDO_0006011	viral hepatitis		A viral infection caused by the hepatitis C virus.
http://purl.obolibrary.org/obo/MONDO_0005232	large cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A malignant epithelial neoplasm composed of large, atypical cells.
http://purl.obolibrary.org/obo/MONDO_0005233	non-small cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0005138	lung carcinoma		A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.
http://purl.obolibrary.org/obo/MONDO_0005235	smoldering plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0009693	plasma cell myeloma		A plasma cell myeloma lacking clinical manifestations and organ impairment.
http://purl.obolibrary.org/obo/MONDO_0005236	xanthoma	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.
http://purl.obolibrary.org/obo/MONDO_0005238	round cell liposarcoma	http://purl.obolibrary.org/obo/MONDO_0020561	myxoid/round cell liposarcoma		A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		A disease involving the kidney.
http://purl.obolibrary.org/obo/MONDO_0005242	empyema	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		An accumulation of pus in a body cavity, usually the pleural space.
http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0019056	neuromuscular disease		A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.
http://purl.obolibrary.org/obo/MONDO_0005246	osteomyelitis	http://purl.obolibrary.org/obo/MONDO_0003225	bone marrow disorder		An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.
http://purl.obolibrary.org/obo/MONDO_0005247	bacterial urinary tract infection	http://purl.obolibrary.org/obo/MONDO_0100338	urinary tract infection		A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.
http://purl.obolibrary.org/obo/MONDO_0005249	pneumonia	http://purl.obolibrary.org/obo/MONDO_0043905	pneumonitis		An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.
http://purl.obolibrary.org/obo/MONDO_0005250	placental villitis	http://purl.obolibrary.org/obo/MONDO_0045013	disorder of extraembryonic membrane		Inflammatory process that involves the chorionic villi (villitis) of the placenta.
http://purl.obolibrary.org/obo/MONDO_0005252	heart failure	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.
http://purl.obolibrary.org/obo/MONDO_0005253	high output heart failure	http://purl.obolibrary.org/obo/MONDO_0005252	heart failure		High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.
http://purl.obolibrary.org/obo/MONDO_0005254	symptomatic heart failure	http://purl.obolibrary.org/obo/MONDO_0005252	heart failure		A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc
http://purl.obolibrary.org/obo/MONDO_0005255	mild heart failure	http://purl.obolibrary.org/obo/MONDO_0005254	symptomatic heart failure		Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.
http://purl.obolibrary.org/obo/MONDO_0005256	moderate heart failure	http://purl.obolibrary.org/obo/MONDO_0005254	symptomatic heart failure		Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.
http://purl.obolibrary.org/obo/MONDO_0005257	advanced heart failure	http://purl.obolibrary.org/obo/MONDO_0005254	symptomatic heart failure		Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.
http://purl.obolibrary.org/obo/MONDO_0005258	autism spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0000594	pervasive developmental disorder		A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.
http://purl.obolibrary.org/obo/MONDO_0005260	autism	http://purl.obolibrary.org/obo/MONDO_0005258	autism spectrum disorder		Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
http://purl.obolibrary.org/obo/MONDO_0005262	central nervous system cyst	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A congenital or acquired cyst that is present in the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0005264	transient ischemic attack	http://purl.obolibrary.org/obo/MONDO_1060198	ischemic stroke		A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.
http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.
http://purl.obolibrary.org/obo/MONDO_0005266	diabetic retinopathy	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.
http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder	http://purl.obolibrary.org/obo/MONDO_0004995	cardiovascular disorder		A disease involving the heart and/or pericardium.
http://purl.obolibrary.org/obo/MONDO_0005269	carotid artery disorder	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		A disease involving the carotid artery segment.
http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease	http://purl.obolibrary.org/obo/MONDO_0000605	hypersensitivity reaction disease		An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.
http://purl.obolibrary.org/obo/MONDO_0005272	myelodysplastic syndrome with single lineage dysplasia	http://purl.obolibrary.org/obo/MONDO_0018881	myelodysplastic syndrome		A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow.
http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder	http://purl.obolibrary.org/obo/MONDO_0000270	lower respiratory tract disorder		A disease involving the lung.
http://purl.obolibrary.org/obo/MONDO_0005276	dental caries	http://purl.obolibrary.org/obo/MONDO_0002220	tooth hard tissue disease		The decay of a tooth, in which it becomes softened, discolored, and/or porous.
http://purl.obolibrary.org/obo/MONDO_0005277	migraine disorder	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.
http://purl.obolibrary.org/obo/MONDO_0005278	serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0005279	pulmonary embolism	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.
http://purl.obolibrary.org/obo/MONDO_0005280	prostatitis	http://purl.obolibrary.org/obo/MONDO_0003105	prostate disorder		An infectious or non-infectious inflammatory process affecting the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder	http://purl.obolibrary.org/obo/MONDO_0002515	hepatobiliary disorder		A disease involving the gall bladder.
http://purl.obolibrary.org/obo/MONDO_0005282	cutaneous lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0004670	lupus erythematosus		An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease.
http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Any disease or disorder of the retina.
http://purl.obolibrary.org/obo/MONDO_0005284	chronic progressive multiple sclerosis	http://purl.obolibrary.org/obo/MONDO_0005301	multiple sclerosis		A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)
http://purl.obolibrary.org/obo/MONDO_0005286	palatal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021245	oral cavity neoplasm		A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.
http://purl.obolibrary.org/obo/MONDO_0005287	developmental disability	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
http://purl.obolibrary.org/obo/MONDO_0005288	intestinal polyp	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.
http://purl.obolibrary.org/obo/MONDO_0005289	paranasal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0024653	skull neoplasm		A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0005291	brain aneurysm	http://purl.obolibrary.org/obo/MONDO_0006693	cerebral arterial disease		A congenital or acquired aneurysm within the cranium.
http://purl.obolibrary.org/obo/MONDO_0005292	colitis	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Inflammation of the colon.
http://purl.obolibrary.org/obo/MONDO_0005293	flatfoot	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.
http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Any disorder affecting blood flow through the veins or arteries outside of the heart.
http://purl.obolibrary.org/obo/MONDO_0005295	intermittent vascular claudication	http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease		A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.
http://purl.obolibrary.org/obo/MONDO_0005296	sleep apnea syndrome	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.
http://purl.obolibrary.org/obo/MONDO_0005297	urethritis	http://purl.obolibrary.org/obo/MONDO_0005247	bacterial urinary tract infection		Inflammation of the urethra.
http://purl.obolibrary.org/obo/MONDO_0005298	osteoporosis	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).
http://purl.obolibrary.org/obo/MONDO_0005299	brain ischemia	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.
http://purl.obolibrary.org/obo/MONDO_0005300	chronic kidney disease	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.
http://purl.obolibrary.org/obo/MONDO_0005301	multiple sclerosis	http://purl.obolibrary.org/obo/MONDO_0020800	demyelinating disease of central nervous system		A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.
http://purl.obolibrary.org/obo/MONDO_0005302	attention deficit hyperactivity disorder, inattentive type	http://purl.obolibrary.org/obo/MONDO_0007743	attention deficit-hyperactivity disorder		A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.
http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence	http://purl.obolibrary.org/obo/MONDO_0004938	substance dependence		Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.
http://purl.obolibrary.org/obo/MONDO_0005304	biliary tract neoplasm	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		A neoplasm that involves the biliary tract.
http://purl.obolibrary.org/obo/MONDO_0005306	ankylosing spondylitis	http://purl.obolibrary.org/obo/MONDO_0037847	vertebral joint disorder		An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.
http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
http://purl.obolibrary.org/obo/MONDO_0005309	spinal fracture	http://purl.obolibrary.org/obo/MONDO_0005315	bone fracture		Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting.
http://purl.obolibrary.org/obo/MONDO_0005310	atrial flutter	http://purl.obolibrary.org/obo/MONDO_0005479	atrial tachycardia		A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)
http://purl.obolibrary.org/obo/MONDO_0005311	atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0002277	arteriosclerosis disorder		A disease characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.
http://purl.obolibrary.org/obo/MONDO_0005312	pouchitis	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).
http://purl.obolibrary.org/obo/MONDO_0005313	necrotizing enterocolitis	http://purl.obolibrary.org/obo/MONDO_0009172	enterocolitis		Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.
http://purl.obolibrary.org/obo/MONDO_0005314	relapsing-remitting multiple sclerosis	http://purl.obolibrary.org/obo/MONDO_0005301	multiple sclerosis		The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)
http://purl.obolibrary.org/obo/MONDO_0005315	bone fracture	http://purl.obolibrary.org/obo/MONDO_0021178	injury		Breaks in bones.
http://purl.obolibrary.org/obo/MONDO_0005316	bacterial vaginosis	http://purl.obolibrary.org/obo/MONDO_0023557	infective vaginitis		Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.
http://purl.obolibrary.org/obo/MONDO_0005318	canker sore	http://purl.obolibrary.org/obo/MONDO_0004842	stomatitis		A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.
http://purl.obolibrary.org/obo/MONDO_0005319	humerus fracture	http://purl.obolibrary.org/obo/MONDO_0005315	bone fracture		A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken.
http://purl.obolibrary.org/obo/MONDO_0005320	tibia fracture	http://purl.obolibrary.org/obo/MONDO_0005315	bone fracture		Traumatic or pathological injury to the tibia in which the continuity of the bone is broken.
http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy	http://purl.obolibrary.org/obo/MONDO_0020214	posterior corneal dystrophy		Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.
http://purl.obolibrary.org/obo/MONDO_0005322	ulna fracture	http://purl.obolibrary.org/obo/MONDO_0005315	bone fracture		Fractures of the larger bone of the forearm.
http://purl.obolibrary.org/obo/MONDO_0005323	bacterial sexually transmitted disease	http://purl.obolibrary.org/obo/MONDO_0021681	sexually transmitted disease		Bacterial diseases that are potentially transmitted or propagated by sexual conduct.
http://purl.obolibrary.org/obo/MONDO_0005324	seasonal allergic rhinitis	http://purl.obolibrary.org/obo/MONDO_0011786	allergic rhinitis		Allergic rhinitis caused by outdoor allergens.
http://purl.obolibrary.org/obo/MONDO_0005325	radius fracture	http://purl.obolibrary.org/obo/MONDO_0005315	bone fracture		Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.
http://purl.obolibrary.org/obo/MONDO_0005326	sunburn	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.
http://purl.obolibrary.org/obo/MONDO_0005327	hip fracture	http://purl.obolibrary.org/obo/MONDO_0005315	bone fracture		Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side.
http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.
http://purl.obolibrary.org/obo/MONDO_0005333	hyperthyroxinemia	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		Abnormally elevated thyroxine level in the blood.
http://purl.obolibrary.org/obo/MONDO_0005334	hereditary nephritis	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.
http://purl.obolibrary.org/obo/MONDO_0005335	colorectal neoplasm	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.
http://purl.obolibrary.org/obo/MONDO_0005336	myopathy	http://purl.obolibrary.org/obo/MONDO_0020120	skeletal muscle disorder		A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.
http://purl.obolibrary.org/obo/MONDO_0005338	open-angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.
http://purl.obolibrary.org/obo/MONDO_0005340	alopecia areata	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Loss of scalp and body hair involving microscopically inflammatory patchy areas.
http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020804	basal cell carcinoma		The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0005342	IgA glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0005334	hereditary nephritis		Inflammation of a specific segment of glomeruli within the kidney.
http://purl.obolibrary.org/obo/MONDO_0005344	hepatitis B virus infection	http://purl.obolibrary.org/obo/MONDO_0006011	viral hepatitis		A viral infection caused by the hepatitis B virus.
http://purl.obolibrary.org/obo/MONDO_0005345	hypospadias	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.
http://purl.obolibrary.org/obo/MONDO_0005346	gallstones	http://purl.obolibrary.org/obo/MONDO_0004868	biliary tract disorder		Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.
http://purl.obolibrary.org/obo/MONDO_0005347	hypertriglyceridemia	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A laboratory test result indicating elevated triglyceride concentration in the blood.
http://purl.obolibrary.org/obo/MONDO_0005348	keloid	http://purl.obolibrary.org/obo/MONDO_0006603	reactive cutaneous fibrous lesion		An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.
http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.
http://purl.obolibrary.org/obo/MONDO_0005350	abdominal aortic aneurysm	http://purl.obolibrary.org/obo/MONDO_0005160	aortic aneurysm		Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.
http://purl.obolibrary.org/obo/MONDO_0005351	anorexia nervosa	http://purl.obolibrary.org/obo/MONDO_0005451	eating disorder		A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.
http://purl.obolibrary.org/obo/MONDO_0005352	conduct disorder	http://purl.obolibrary.org/obo/MONDO_0000592	specific developmental disorder		A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.
http://purl.obolibrary.org/obo/MONDO_0005354	chronic hepatitis C virus infection	http://purl.obolibrary.org/obo/MONDO_0005231	hepatitis C virus infection		Chronic form of hepatitis C infection.
http://purl.obolibrary.org/obo/MONDO_0005355	coronary restenosis	http://purl.obolibrary.org/obo/MONDO_0006715	coronary stenosis		Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.
http://purl.obolibrary.org/obo/MONDO_0005356	coronary vasospasm	http://purl.obolibrary.org/obo/MONDO_0005010	coronary artery disorder		Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow.
http://purl.obolibrary.org/obo/MONDO_0005357	Creutzfeldt Jacob disease	http://purl.obolibrary.org/obo/MONDO_0005429	prion disease		A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.
http://purl.obolibrary.org/obo/MONDO_0005358	Dengue hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.
http://purl.obolibrary.org/obo/MONDO_0005359	drug-induced liver injury	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.
http://purl.obolibrary.org/obo/MONDO_0005361	eosinophilic esophagitis	http://purl.obolibrary.org/obo/MONDO_0018438	eosinophilic gastrointestinal disease		Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).
http://purl.obolibrary.org/obo/MONDO_0005362	erectile dysfunction	http://purl.obolibrary.org/obo/MONDO_0002134	physiological sexual disorder		Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
http://purl.obolibrary.org/obo/MONDO_0005363	inherited focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0005364	Graves disease	http://purl.obolibrary.org/obo/MONDO_1060200	primary hyperthyroidism		Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery.
http://purl.obolibrary.org/obo/MONDO_0005365	hearing loss disorder	http://purl.obolibrary.org/obo/MONDO_0021945	hearing disorder		A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.
http://purl.obolibrary.org/obo/MONDO_0005366	chronic hepatitis B virus infection	http://purl.obolibrary.org/obo/MONDO_0005344	hepatitis B virus infection		Chronic form of hepatitis B infection.
http://purl.obolibrary.org/obo/MONDO_0005367	heroin dependence	http://purl.obolibrary.org/obo/MONDO_0005530	opiate dependence		Physical and psychological dependence on the drug heroin.
http://purl.obolibrary.org/obo/MONDO_0005369	carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0019496	neuroendocrine neoplasm		A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.
http://purl.obolibrary.org/obo/MONDO_0005371	mood disorder	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.
http://purl.obolibrary.org/obo/MONDO_0005372	male infertility	http://purl.obolibrary.org/obo/MONDO_0005047	infertility disorder		The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
http://purl.obolibrary.org/obo/MONDO_0005373	meningococcal infection	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the species neisseria meningitidis.
http://purl.obolibrary.org/obo/MONDO_0005374	bone marrow neoplasm	http://purl.obolibrary.org/obo/MONDO_0003225	bone marrow disorder		Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).
http://purl.obolibrary.org/obo/MONDO_0005375	nasopharyngeal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021246	pharynx neoplasm		A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005376	membranous glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0700328	podocytopathy		A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.
http://purl.obolibrary.org/obo/MONDO_0005377	nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0002331	nephrosis		A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.
http://purl.obolibrary.org/obo/MONDO_0005379	neurotic disorder	http://purl.obolibrary.org/obo/MONDO_0005618	anxiety disorder		A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.
http://purl.obolibrary.org/obo/MONDO_0005380	osteonecrosis	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A none disease characterized by death of bone tissue due to a lack of blood supply.
http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		Diseases of bones.
http://purl.obolibrary.org/obo/MONDO_0005382	bone Paget disease	http://purl.obolibrary.org/obo/MONDO_0800486	metabolic bone disorder		A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.
http://purl.obolibrary.org/obo/MONDO_0005383	panic disorder	http://purl.obolibrary.org/obo/MONDO_0005618	anxiety disorder		An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.
http://purl.obolibrary.org/obo/MONDO_0005384	focal epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		A seizure caused by a localized disorder.
http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder	http://purl.obolibrary.org/obo/MONDO_0004995	cardiovascular disorder		A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome.
http://purl.obolibrary.org/obo/MONDO_0005386	peripheral arterial disease	http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease		A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.
http://purl.obolibrary.org/obo/MONDO_0005387	primary ovarian failure	http://purl.obolibrary.org/obo/MONDO_0001889	ovarian dysfunction		Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.
http://purl.obolibrary.org/obo/MONDO_0005388	primary biliary cholangitis	http://purl.obolibrary.org/obo/MONDO_0007329	cirrhosis, familial		Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.
http://purl.obolibrary.org/obo/MONDO_0005391	restless legs syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.
http://purl.obolibrary.org/obo/MONDO_0005392	scoliosis	http://purl.obolibrary.org/obo/MONDO_0000836	disease of bone structure		A congenital or acquired spinal deformity characterized by lateral curvature of the spine.
http://purl.obolibrary.org/obo/MONDO_0005393	gout	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.
http://purl.obolibrary.org/obo/MONDO_0005394	brain infarction	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.
http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.
http://purl.obolibrary.org/obo/MONDO_0005396	thoracic aortic aneurysm	http://purl.obolibrary.org/obo/MONDO_0005160	aortic aneurysm		An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.
http://purl.obolibrary.org/obo/MONDO_0005397	goiter	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.
http://purl.obolibrary.org/obo/MONDO_0005398	upper aerodigestive tract neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)
http://purl.obolibrary.org/obo/MONDO_0005399	venous thromboembolism	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.
http://purl.obolibrary.org/obo/MONDO_0005401	colonic neoplasm	http://purl.obolibrary.org/obo/MONDO_0005335	colorectal neoplasm		A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.
http://purl.obolibrary.org/obo/MONDO_0005402	lymphoid leukemia	http://purl.obolibrary.org/obo/MONDO_0005157	lymphoid neoplasm		A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.
http://purl.obolibrary.org/obo/MONDO_0005404	myalgic encephalomeyelitis/chronic fatigue syndrome	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.
http://purl.obolibrary.org/obo/MONDO_0005405	childhood onset asthma	http://purl.obolibrary.org/obo/MONDO_0004979	asthma		Asthma that starts in childhood.
http://purl.obolibrary.org/obo/MONDO_0005406	gestational diabetes	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		Carbohydrate intolerance first diagnosed during pregnancy.
http://purl.obolibrary.org/obo/MONDO_0005407	childhood eosinophilic esophagitis	http://purl.obolibrary.org/obo/MONDO_0005361	eosinophilic esophagitis		An eosinophilic esophagitis that starts in childhood.
http://purl.obolibrary.org/obo/MONDO_0005408	diabetes mellitus type 2 associated cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism
http://purl.obolibrary.org/obo/MONDO_0005411	gallbladder cancer	http://purl.obolibrary.org/obo/MONDO_0021253	gallbladder neoplasm		A malignant neoplasm involving the gall bladder
http://purl.obolibrary.org/obo/MONDO_0005412	duodenal ulcer	http://purl.obolibrary.org/obo/MONDO_0004247	peptic ulcer disease		An ulcer in the duodenal wall.
http://purl.obolibrary.org/obo/MONDO_0005413	cystic fibrosis associated meconium ileus	http://purl.obolibrary.org/obo/MONDO_0100086	perinatal disease		Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.
http://purl.obolibrary.org/obo/MONDO_0005414	treatment-refractory schizophrenia	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		Schizophrenia which does not respond to commonly used treatments.
http://purl.obolibrary.org/obo/MONDO_0005416	osteoarthritis, knee	http://purl.obolibrary.org/obo/MONDO_0005178	osteoarthritis		Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)
http://purl.obolibrary.org/obo/MONDO_0005417	wet macular degeneration	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.
http://purl.obolibrary.org/obo/MONDO_0005418	non-compaction cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy		Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.
http://purl.obolibrary.org/obo/MONDO_0005419	methamphetamine dependence	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		A drug dependence that is a psychological dependency on the regular use of methamphetamine.
http://purl.obolibrary.org/obo/MONDO_0005420	hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		Abnormally low levels of thyroid hormone.
http://purl.obolibrary.org/obo/MONDO_0005424	elephantiasis	http://purl.obolibrary.org/obo/MONDO_0019297	lymphedema		Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.
http://purl.obolibrary.org/obo/MONDO_0005425	podoconiosis	http://purl.obolibrary.org/obo/MONDO_0005424	elephantiasis		A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.
http://purl.obolibrary.org/obo/MONDO_0005426	MRI defined brain infarct	http://purl.obolibrary.org/obo/MONDO_0005394	brain infarction		An infarct detected by MRI and not determined to be clinically significant
http://purl.obolibrary.org/obo/MONDO_0005429	prion disease	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.
http://purl.obolibrary.org/obo/MONDO_0005430	early onset hypertension	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		A form of hypertension with early onset relative to normal range for a given population.
http://purl.obolibrary.org/obo/MONDO_0005432	alcohol and nicotine codependence	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		A drug dependence that is the physiological result of being addicted to alcohol and nicotine.
http://purl.obolibrary.org/obo/MONDO_0005434	skin sensitivity to sun	http://purl.obolibrary.org/obo/MONDO_0006597	photosensitivity disease		The response of human skin to sun exposure.
http://purl.obolibrary.org/obo/MONDO_0005435	anti-neutrophil antibody associated vasculitis	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.
http://purl.obolibrary.org/obo/MONDO_0005436	postoperative ventricular dysfunction	http://purl.obolibrary.org/obo/MONDO_0045001	cardiac ventricle disorder		Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.
http://purl.obolibrary.org/obo/MONDO_0005437	testicular dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0002329	testicular disorder		A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.
http://purl.obolibrary.org/obo/MONDO_0005438	metastatic malignant neoplasm in the lymph nodes	http://purl.obolibrary.org/obo/MONDO_0001082	lymph node cancer		The spread of a malignant neoplasm to the lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0005439	familial hypercholesterolemia	http://purl.obolibrary.org/obo/MONDO_0037748	hyperlipoproteinemia		An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.
http://purl.obolibrary.org/obo/MONDO_0005440	embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003578	extragonadal nonseminomatous germ cell tumor		A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).
http://purl.obolibrary.org/obo/MONDO_0005441	otitis media	http://purl.obolibrary.org/obo/MONDO_0003276	middle ear disorder		Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.
http://purl.obolibrary.org/obo/MONDO_0005445	visceral leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0011989	leishmaniasis		A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.
http://purl.obolibrary.org/obo/MONDO_0005446	cutaneous leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0011989	leishmaniasis		Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.
http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer	http://purl.obolibrary.org/obo/MONDO_0021348	neoplasm of testis		A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0005448	hepatitis C induced liver cirrhosis	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		Liver injury resulting from hepatitis C infection.
http://purl.obolibrary.org/obo/MONDO_0005449	conduction system disorder	http://purl.obolibrary.org/obo/MONDO_0024643	myocardial disorder		A disease involving the conducting system of heart.
http://purl.obolibrary.org/obo/MONDO_0005451	eating disorder	http://purl.obolibrary.org/obo/MONDO_0005137	nutritional disorder		A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.
http://purl.obolibrary.org/obo/MONDO_0005452	bulimia nervosa	http://purl.obolibrary.org/obo/MONDO_0005451	eating disorder		A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.
http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.
http://purl.obolibrary.org/obo/MONDO_0005454	lung neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005459	human African trypanosomiasis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.
http://purl.obolibrary.org/obo/MONDO_0005460	swine influenza	http://purl.obolibrary.org/obo/MONDO_0005812	influenza		An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.
http://purl.obolibrary.org/obo/MONDO_0005461	endometrium adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0005462	primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0005564	embryonal neoplasm		A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.
http://purl.obolibrary.org/obo/MONDO_0005463	aortic valve calcification	http://purl.obolibrary.org/obo/MONDO_0003803	aortic valve disorder		Calcification of the aortic valve
http://purl.obolibrary.org/obo/MONDO_0005464	rhegmatogenous retinal detachment	http://purl.obolibrary.org/obo/MONDO_0008375	retinal detachment		Retinal detachment secondary to retinal tear or break.
http://purl.obolibrary.org/obo/MONDO_0005465	methamphetamine-induced psychosis	http://purl.obolibrary.org/obo/MONDO_0005485	psychotic disorder		Abnormal mental state resulting from an abuse of methamphetamine
http://purl.obolibrary.org/obo/MONDO_0005466	hypersomnia	http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder		A sleep disorder characterized by excessive sleepiness.
http://purl.obolibrary.org/obo/MONDO_0005467	occupation-related stress disorder	http://purl.obolibrary.org/obo/MONDO_0100366	occupational disorder		The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.
http://purl.obolibrary.org/obo/MONDO_0005468	hypotensive disorder	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		Blood pressure that is abnormally low.
http://purl.obolibrary.org/obo/MONDO_0005469	orthostatic hypotension	http://purl.obolibrary.org/obo/MONDO_0005468	hypotensive disorder		Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.
http://purl.obolibrary.org/obo/MONDO_0005470	postprandial hypotension	http://purl.obolibrary.org/obo/MONDO_0005468	hypotensive disorder		Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous system for the diversion of blood to the intestines.
http://purl.obolibrary.org/obo/MONDO_0005471	neurally mediated hypotension	http://purl.obolibrary.org/obo/MONDO_0005468	hypotensive disorder		Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal
http://purl.obolibrary.org/obo/MONDO_0005473	temporomandibular joint disorder	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.
http://purl.obolibrary.org/obo/MONDO_0005475	migraine with aura	http://purl.obolibrary.org/obo/MONDO_0005277	migraine disorder		A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.
http://purl.obolibrary.org/obo/MONDO_0005476	atrioventricular node disorder	http://purl.obolibrary.org/obo/MONDO_0005449	conduction system disorder		A disease involving the atrioventricular node.
http://purl.obolibrary.org/obo/MONDO_0005477	ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)
http://purl.obolibrary.org/obo/MONDO_0005478	torsades de pointes	http://purl.obolibrary.org/obo/MONDO_0005477	ventricular tachycardia		A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.
http://purl.obolibrary.org/obo/MONDO_0005479	atrial tachycardia	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)
http://purl.obolibrary.org/obo/MONDO_0005480	contact dermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.
http://purl.obolibrary.org/obo/MONDO_0005481	contact dermatitis due to nickel	http://purl.obolibrary.org/obo/MONDO_0005480	contact dermatitis		A form of allergic contact dermatitis that results from exposure to nickel
http://purl.obolibrary.org/obo/MONDO_0005483	chemotherapy-induced alopecia	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Hair loss as a result of chemotherapy treatment.
http://purl.obolibrary.org/obo/MONDO_0005484	colorectal adenoma	http://purl.obolibrary.org/obo/MONDO_0006180	digestive system adenoma		An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.
http://purl.obolibrary.org/obo/MONDO_0005485	psychotic disorder	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.
http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		A tooth disease characterized by failure to develop one or more missing teeth.
http://purl.obolibrary.org/obo/MONDO_0005487	schizoaffective disorder	http://purl.obolibrary.org/obo/MONDO_0005485	psychotic disorder		A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.
http://purl.obolibrary.org/obo/MONDO_0005488	adolescent idiopathic scoliosis	http://purl.obolibrary.org/obo/MONDO_0000726	idiopathic scoliosis		A scoliosis with no known cause arising in adolescent.
http://purl.obolibrary.org/obo/MONDO_0005489	dyslexia	http://purl.obolibrary.org/obo/MONDO_0001697	reading disorder		A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.
http://purl.obolibrary.org/obo/MONDO_0005490	large artery stroke	http://purl.obolibrary.org/obo/MONDO_0005098	stroke disorder		Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.
http://purl.obolibrary.org/obo/MONDO_0005491	Chagas cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.
http://purl.obolibrary.org/obo/MONDO_0005492	urticaria	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.
http://purl.obolibrary.org/obo/MONDO_0005493	carbon monoxide-induced delayed encephalopathy	http://purl.obolibrary.org/obo/MONDO_0800373	carbon monoxide poisoning		Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event
http://purl.obolibrary.org/obo/MONDO_0005494	triple-negative breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006513	estrogen-receptor negative breast cancer		An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).
http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A disease involving the adrenal gland.
http://purl.obolibrary.org/obo/MONDO_0005496	bile duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0018531	carcinoma of liver and intrahepatic biliary tract		A carcinoma that arises from epithelial cells of the bile duct
http://purl.obolibrary.org/obo/MONDO_0005497	bone development disease	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A disease involving the bone development.
http://purl.obolibrary.org/obo/MONDO_0005498	botulism	http://purl.obolibrary.org/obo/MONDO_0024388	Clostridium infectious disease		A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0005499	brain glioma	http://purl.obolibrary.org/obo/MONDO_0100342	malignant glioma		A malignant glioma that involves the brain.
http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
http://purl.obolibrary.org/obo/MONDO_0005502	dengue disease	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).
http://purl.obolibrary.org/obo/MONDO_0005503	developmental disorder of mental health	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
http://purl.obolibrary.org/obo/MONDO_0005504	diphtheria	http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease		A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.
http://purl.obolibrary.org/obo/MONDO_0005505	dysembryoplastic neuroepithelial tumor	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B
http://purl.obolibrary.org/obo/MONDO_0005506	eccrine sweat gland cancer	http://purl.obolibrary.org/obo/MONDO_0002206	sweat gland cancer		An cancer with eccrine differentiation arising from the sweat glands.B
http://purl.obolibrary.org/obo/MONDO_0005507	gingival cancer	http://purl.obolibrary.org/obo/MONDO_0021086	gingival neoplasm		A primary or metastatic malignant neoplasm that affects the gums.
http://purl.obolibrary.org/obo/MONDO_0005508	hereditary multiple osteochondromas	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.
http://purl.obolibrary.org/obo/MONDO_0005509	histiocytoma	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A mesenchymal tumor composed of fibroblastic and histiocytic cells.
http://purl.obolibrary.org/obo/MONDO_0005510	hydronephrosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.
http://purl.obolibrary.org/obo/MONDO_0005511	janus kinase-3 deficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.
http://purl.obolibrary.org/obo/MONDO_0005512	malignant peritoneal mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006362	peritoneal mesothelioma		An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.
http://purl.obolibrary.org/obo/MONDO_0005514	nanophthalmia	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
http://purl.obolibrary.org/obo/MONDO_0005515	oral cavity cancer	http://purl.obolibrary.org/obo/MONDO_0021245	oral cavity neoplasm		A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
http://purl.obolibrary.org/obo/MONDO_0005517	pharynx cancer	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		A primary or metastatic malignant neoplasm that affects the pharynx.
http://purl.obolibrary.org/obo/MONDO_0005518	pseudohermaphroditism	http://purl.obolibrary.org/obo/MONDO_0024665	indeterminate sex and/or pseudohermaphroditism		A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.
http://purl.obolibrary.org/obo/MONDO_0005519	renal pelvis carcinoma	http://purl.obolibrary.org/obo/MONDO_0044919	malignant renal pelvis neoplasm		A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0005520	rickets	http://purl.obolibrary.org/obo/MONDO_0000833	bone remodeling disease		Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.
http://purl.obolibrary.org/obo/MONDO_0005522	small intestine carcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A carcinoma that arises from epithelial cells of the small intestine
http://purl.obolibrary.org/obo/MONDO_0005523	steroid inherited metabolic disorder	http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder		Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.
http://purl.obolibrary.org/obo/MONDO_0005524	sweat gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0006973	skin appendage carcinoma		A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005525	T-cell leukemia	http://purl.obolibrary.org/obo/MONDO_0005402	lymphoid leukemia		A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.
http://purl.obolibrary.org/obo/MONDO_0005526	tetanus	http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system		A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0005527	toxic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives.
http://purl.obolibrary.org/obo/MONDO_0005528	inborn vitamin metabolic disorder	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.
http://purl.obolibrary.org/obo/MONDO_0005530	opiate dependence	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		Disorders related or resulting from abuse or mis-use of opioids.
http://purl.obolibrary.org/obo/MONDO_0005531	morphine dependence	http://purl.obolibrary.org/obo/MONDO_0005530	opiate dependence		Strong dependence, both physiological and emotional, upon morphine.
http://purl.obolibrary.org/obo/MONDO_0005532	Crohn's colitis	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		Crohn's disease affecting the colon.
http://purl.obolibrary.org/obo/MONDO_0005533	distal colitis	http://purl.obolibrary.org/obo/MONDO_0005101	ulcerative colitis		Particular variety of ulcerative colitis where only the left half of the colon is inflamed.
http://purl.obolibrary.org/obo/MONDO_0005534	ileocolitis	http://purl.obolibrary.org/obo/MONDO_0005292	colitis		Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.
http://purl.obolibrary.org/obo/MONDO_0005535	oral Crohn disease	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		Crohn's disease affecting the mouth.
http://purl.obolibrary.org/obo/MONDO_0005536	pancolitis	http://purl.obolibrary.org/obo/MONDO_0005101	ulcerative colitis		Ulcerative colitis that involves the entire colon.
http://purl.obolibrary.org/obo/MONDO_0005537	perianal Crohn disease	http://purl.obolibrary.org/obo/MONDO_0005011	Crohn disease		A Crohn disease involving a pathogenic inflammatory response in the anal region.
http://purl.obolibrary.org/obo/MONDO_0005538	proctitis	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.
http://purl.obolibrary.org/obo/MONDO_0005539	small bowel Crohn disease	http://purl.obolibrary.org/obo/MONDO_0043579	enteritis		A Crohn disease involving a pathogenic inflammatory response in the small intestine.
http://purl.obolibrary.org/obo/MONDO_0005541	spondylolysis	http://purl.obolibrary.org/obo/MONDO_0045002	vertebral disorder		A defect in the pars interarticularis of a vertebral bone.
http://purl.obolibrary.org/obo/MONDO_0005542	acute coronary syndrome	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.
http://purl.obolibrary.org/obo/MONDO_0005543	autoimmune hepatitis type 1	http://purl.obolibrary.org/obo/MONDO_0016264	autoimmune hepatitis		Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).
http://purl.obolibrary.org/obo/MONDO_0005544	hippocampal sclerosis of aging	http://purl.obolibrary.org/obo/MONDO_0044996	cerebral cortex disorder		Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus
http://purl.obolibrary.org/obo/MONDO_0005545	staphylococcus aureus infection	http://purl.obolibrary.org/obo/MONDO_0024313	staphylococcal infection		An infectious process in which the bacteria Staphylococcus aureus is present.
http://purl.obolibrary.org/obo/MONDO_0005546	fibromyalgia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.
http://purl.obolibrary.org/obo/MONDO_0005549	renal cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma		A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.
http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease	http://purl.obolibrary.org/obo/MONDO_7770010	disease of primarily extrinsic mechanism		A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.
http://purl.obolibrary.org/obo/MONDO_0005551	eye allergy	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		An allergic disease involving a pathogenic inflammatory response in the camera-type eye.
http://purl.obolibrary.org/obo/MONDO_0005552	ocular vascular disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A disorder that is caused by pathologic changes in the ocular vasculature.
http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder	http://purl.obolibrary.org/obo/MONDO_0003900	connective tissue disorder		Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.
http://purl.obolibrary.org/obo/MONDO_0005555	cycloplegia	http://purl.obolibrary.org/obo/MONDO_0000926	eye accommodation disease		Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.
http://purl.obolibrary.org/obo/MONDO_0005556	lupus nephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Glomerulonephritis in the context of systemic lupus erythematosus.
http://purl.obolibrary.org/obo/MONDO_0005557	calcium metabolic disease	http://purl.obolibrary.org/obo/MONDO_0000226	mineral metabolism disease		Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.
http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A disease involving the ovary.
http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.
http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		A disease affecting the brain or part of the brain.
http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)
http://purl.obolibrary.org/obo/MONDO_0005563	nut midline carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.
http://purl.obolibrary.org/obo/MONDO_0005564	embryonal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003
http://purl.obolibrary.org/obo/MONDO_0005565	blastoma	http://purl.obolibrary.org/obo/MONDO_0005564	embryonal neoplasm		A malignant neoplasm composed of undifferentiated cells.
http://purl.obolibrary.org/obo/MONDO_0005566	neonatal abstinence syndrome	http://purl.obolibrary.org/obo/MONDO_0005567	substance withdrawal syndrome		A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.
http://purl.obolibrary.org/obo/MONDO_0005567	substance withdrawal syndrome	http://purl.obolibrary.org/obo/MONDO_0002494	substance-related disorder		A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.
http://purl.obolibrary.org/obo/MONDO_0005568	cholesterol embolism	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.
http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the hematopoietic system.
http://purl.obolibrary.org/obo/MONDO_0005571	polycythemia	http://purl.obolibrary.org/obo/MONDO_0003225	bone marrow disorder		Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.
http://purl.obolibrary.org/obo/MONDO_0005572	polycythemia due to hypoxia	http://purl.obolibrary.org/obo/MONDO_0016541	acquired secondary polycythemia		Polycythemia resulting from hypoxia.
http://purl.obolibrary.org/obo/MONDO_0005574	tauopathy	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.
http://purl.obolibrary.org/obo/MONDO_0005575	colorectal cancer	http://purl.obolibrary.org/obo/MONDO_0005814	intestinal cancer		A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0005576	cryoglobulinemia	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.
http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.
http://purl.obolibrary.org/obo/MONDO_0005579	idiopathic generalized epilepsy	http://purl.obolibrary.org/obo/MONDO_0100576	hereditary generalized epilepsy		A generalised epilepsy that encompasses several common seizure phenotypes including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. These epilepsy syndromes have polygenic inheritance with or without environmental factors contributing to seizure susceptibility. Seizure types include one or a combination of absence seizures, myoclonic seizures and/or generalized tonic-clonic seizures.
http://purl.obolibrary.org/obo/MONDO_0005580	esophageal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0019086	carcinoma of esophagus		Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.
http://purl.obolibrary.org/obo/MONDO_0005581	AVL induced bursal lymphoma	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occurring in birds.
http://purl.obolibrary.org/obo/MONDO_0005582	binge eating disorder	http://purl.obolibrary.org/obo/MONDO_0005451	eating disorder		Recurrent episodes of over-eating.
http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease	http://purl.obolibrary.org/obo/MONDO_0000001	disease		A disease that occurs in animals.
http://purl.obolibrary.org/obo/MONDO_0005584	congenital left-sided heart lesions	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.
http://purl.obolibrary.org/obo/MONDO_0005585	chemotherapy-induced hypertension	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		A form of hypertension that occurs as a direct result of chemotherapy treatment
http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005588	chemotherapy-induced oral mucositis	http://purl.obolibrary.org/obo/MONDO_0004842	stomatitis		Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.
http://purl.obolibrary.org/obo/MONDO_0005589	thiopurine immunosuppressant-induced pancreatitis	http://purl.obolibrary.org/obo/MONDO_0004982	pancreatitis		Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine.
http://purl.obolibrary.org/obo/MONDO_0005590	breast ductal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004988	breast adenocarcinoma		A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.
http://purl.obolibrary.org/obo/MONDO_0005593	chronic periodontitis	http://purl.obolibrary.org/obo/MONDO_0005076	periodontitis		A chronic inflammatory process that affects the tissues that surround and support the teeth.
http://purl.obolibrary.org/obo/MONDO_0005594	severe cutaneous adverse reaction	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE).
http://purl.obolibrary.org/obo/MONDO_0005595	laryngeal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.
http://purl.obolibrary.org/obo/MONDO_0005596	cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0021077	cystic neoplasm		A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.
http://purl.obolibrary.org/obo/MONDO_0005597	cystic renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma		Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis.
http://purl.obolibrary.org/obo/MONDO_0005598	dopaminergic neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005072	neuroblastoma		A neuroblastoma associated with increased dopamine excretion.
http://purl.obolibrary.org/obo/MONDO_0005599	malignant epithelioid mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma		A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0005601	ovarian mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024282	mucinous ovarian cancer		An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.
http://purl.obolibrary.org/obo/MONDO_0005602	ovarian teratoma	http://purl.obolibrary.org/obo/MONDO_0011366	ovarian germ cell tumor		A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.
http://purl.obolibrary.org/obo/MONDO_0005605	transitional cell papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	papilloma		A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.
http://purl.obolibrary.org/obo/MONDO_0005606	tubular adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0005607	chronic bronchitis	http://purl.obolibrary.org/obo/MONDO_0005002	chronic obstructive pulmonary disease		A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.
http://purl.obolibrary.org/obo/MONDO_0005608	varicella zoster infection	http://purl.obolibrary.org/obo/MONDO_0005794	Herpesviridae infectious disease		A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.
http://purl.obolibrary.org/obo/MONDO_0005609	herpes zoster	http://purl.obolibrary.org/obo/MONDO_0100330	disease arising from reactivation of latent virus		A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.
http://purl.obolibrary.org/obo/MONDO_0005610	Kashin-Beck disease	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.
http://purl.obolibrary.org/obo/MONDO_0005611	bladder transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0040679	urothelial carcinoma		The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.
http://purl.obolibrary.org/obo/MONDO_0005613	mesonephric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants.
http://purl.obolibrary.org/obo/MONDO_0005614	pancreatic adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0018521	squamous cell carcinoma of pancreas		A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0005615	plasmacytoma	http://purl.obolibrary.org/obo/MONDO_0004959	plasma cell neoplasm		Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.
http://purl.obolibrary.org/obo/MONDO_0005616	pulmonary mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0027772	lung colloid adenocarcinoma		A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.
http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.
http://purl.obolibrary.org/obo/MONDO_0005618	anxiety disorder	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.
http://purl.obolibrary.org/obo/MONDO_0005619	typhoid fever	http://purl.obolibrary.org/obo/MONDO_0000827	salmonellosis		A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.
http://purl.obolibrary.org/obo/MONDO_0005620	cerebral amyloid angiopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.
http://purl.obolibrary.org/obo/MONDO_0005621	vascular brain injury	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		Damage to the blood vessels of the brain
http://purl.obolibrary.org/obo/MONDO_0005623	autoimmune thyroid disease	http://purl.obolibrary.org/obo/MONDO_0004126	thyroiditis		Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.
http://purl.obolibrary.org/obo/MONDO_0005624	atrophic thyroiditis	http://purl.obolibrary.org/obo/MONDO_0005623	autoimmune thyroid disease		Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.
http://purl.obolibrary.org/obo/MONDO_0005625	cerebral malaria	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.
http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.
http://purl.obolibrary.org/obo/MONDO_0005627	head and neck cancer	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005628	male breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		A malignant neoplasm involving the male breast.
http://purl.obolibrary.org/obo/MONDO_0005629	Acanthamoeba keratitis	http://purl.obolibrary.org/obo/MONDO_0023865	corneal infection		Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.
http://purl.obolibrary.org/obo/MONDO_0005630	actinobacillosis	http://purl.obolibrary.org/obo/MONDO_0700059	Actinobacillus infectious disease, non-human animal		A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.
http://purl.obolibrary.org/obo/MONDO_0005631	actinomycosis	http://purl.obolibrary.org/obo/MONDO_0006921	Actinomycetales infectious disease		Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.
http://purl.obolibrary.org/obo/MONDO_0005632	acute chest syndrome	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.
http://purl.obolibrary.org/obo/MONDO_0005634	acute hemorrhagic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0043541	viral conjunctivitis		Acute conjunctivitis that is characterized by bleeding into the conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0005635	adenomyoma	http://purl.obolibrary.org/obo/MONDO_0000624	benign female reproductive system neoplasm		A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.
http://purl.obolibrary.org/obo/MONDO_0005636	adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0005638	agnosia	http://purl.obolibrary.org/obo/MONDO_0024417	perceptual disorders		A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.
http://purl.obolibrary.org/obo/MONDO_0005639	AIDS related complex	http://purl.obolibrary.org/obo/MONDO_0005109	HIV infectious disease		A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.
http://purl.obolibrary.org/obo/MONDO_0005640	akinetic mutism	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)
http://purl.obolibrary.org/obo/MONDO_0005641	aleutian mink disease	http://purl.obolibrary.org/obo/MONDO_0700206	Parvoviridae infectious disease, non-human animal		A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.
http://purl.obolibrary.org/obo/MONDO_0005642	atopic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005551	eye allergy		Conjunctivitis due to hypersensitivity to various allergens.
http://purl.obolibrary.org/obo/MONDO_0005643	Alphavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005985	Togaviridae infectious disease		Virus diseases caused by members of the alphavirus genus of the family togaviridae.
http://purl.obolibrary.org/obo/MONDO_0005644	amebiasis	http://purl.obolibrary.org/obo/MONDO_0002428	protozoa infectious disease		A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.
http://purl.obolibrary.org/obo/MONDO_0005645	ancylostomiasis	http://purl.obolibrary.org/obo/MONDO_0005943	Rhabditida infectious disease		Infection by hookworms of the genus Ancylostoma.
http://purl.obolibrary.org/obo/MONDO_0005647	anogenital human papillomavirus infection	http://purl.obolibrary.org/obo/MONDO_0021682	viral sexually transmitted disease		A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.
http://purl.obolibrary.org/obo/MONDO_0005648	aortic valve insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder		Dysfunction of the aortic valve characterized by incomplete valve closure.
http://purl.obolibrary.org/obo/MONDO_0005649	appendicitis	http://purl.obolibrary.org/obo/MONDO_0056798	disorder of appendix		Acute inflammation of the vermiform appendix.
http://purl.obolibrary.org/obo/MONDO_0005650	Arenaviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Virus diseases caused by the arenaviridae.
http://purl.obolibrary.org/obo/MONDO_0005651	arenavirus hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.
http://purl.obolibrary.org/obo/MONDO_0005652	Arterivirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005876	Nidovirales infectious disease		Infections caused by viruses of the family arteriviridae.
http://purl.obolibrary.org/obo/MONDO_0005654	ascariasis	http://purl.obolibrary.org/obo/MONDO_0005656	Ascaridida infectious disease		An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.
http://purl.obolibrary.org/obo/MONDO_0005655	ascaridiasis	http://purl.obolibrary.org/obo/MONDO_0005656	Ascaridida infectious disease		Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.
http://purl.obolibrary.org/obo/MONDO_0005656	Ascaridida infectious disease	http://purl.obolibrary.org/obo/MONDO_0005943	Rhabditida infectious disease		Infections with nematodes of the order ascaridida.
http://purl.obolibrary.org/obo/MONDO_0005657	aspergillosis	http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis		Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.
http://purl.obolibrary.org/obo/MONDO_0005658	Astroviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.
http://purl.obolibrary.org/obo/MONDO_0005659	atrophic rhinitis	http://purl.obolibrary.org/obo/MONDO_0003014	rhinitis		A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).
http://purl.obolibrary.org/obo/MONDO_0005660	Avulavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005896	Paramyxoviridae infectious disease		Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl.
http://purl.obolibrary.org/obo/MONDO_0005661	babesiosis	http://purl.obolibrary.org/obo/MONDO_0002428	protozoa infectious disease		Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.
http://purl.obolibrary.org/obo/MONDO_0005662	balantidiasis	http://purl.obolibrary.org/obo/MONDO_0024270	parasitic intestinal disorder		Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer.
http://purl.obolibrary.org/obo/MONDO_0005663	Barre-Lieou syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.
http://purl.obolibrary.org/obo/MONDO_0005664	bartonellosis	http://purl.obolibrary.org/obo/MONDO_0006924	Bartonellaceae infectious disease		An infectious disease produced by bacteria of the genus Bartonella.
http://purl.obolibrary.org/obo/MONDO_0005665	Bell's palsy	http://purl.obolibrary.org/obo/MONDO_0002782	cranial nerve palsy		Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.
http://purl.obolibrary.org/obo/MONDO_0005667	biliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction.
http://purl.obolibrary.org/obo/MONDO_0005668	bird fancier's lung	http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease		Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.
http://purl.obolibrary.org/obo/MONDO_0005669	black piedra	http://purl.obolibrary.org/obo/MONDO_0000253	piedra		A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.
http://purl.obolibrary.org/obo/MONDO_0005670	blackwater fever	http://purl.obolibrary.org/obo/MONDO_0005136	malaria		A complication of malaria resulting from hemolysis.
http://purl.obolibrary.org/obo/MONDO_0005671	Blastocystis infectious disease	http://purl.obolibrary.org/obo/MONDO_0024270	parasitic intestinal disorder		Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.
http://purl.obolibrary.org/obo/MONDO_0005672	blastomycosis	http://purl.obolibrary.org/obo/MONDO_0000308	primary systemic mycosis		Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.
http://purl.obolibrary.org/obo/MONDO_0005673	blind loop syndrome	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.
http://purl.obolibrary.org/obo/MONDO_0005674	bone giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0021054	bone sarcoma		A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.
http://purl.obolibrary.org/obo/MONDO_0005675	border disease	http://purl.obolibrary.org/obo/MONDO_0024985	sheep disease		Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus.
http://purl.obolibrary.org/obo/MONDO_0005676	borna disease	http://purl.obolibrary.org/obo/MONDO_1013508	viral encephalitis, non-human animal		An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.
http://purl.obolibrary.org/obo/MONDO_0005678	bovine respiratory disease complex	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents.
http://purl.obolibrary.org/obo/MONDO_0005679	bovine virus diarrhea-mucosal disease	http://purl.obolibrary.org/obo/MONDO_0700203	pestivirus infectious disease, non-human animal		Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality.
http://purl.obolibrary.org/obo/MONDO_0005680	Brill-Zinsser disease	http://purl.obolibrary.org/obo/MONDO_0019362	epidemic louse-borne typhus		A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.
http://purl.obolibrary.org/obo/MONDO_0005682	bronchopneumonia	http://purl.obolibrary.org/obo/MONDO_0005249	pneumonia		Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.
http://purl.obolibrary.org/obo/MONDO_0005683	brucellosis	http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease		Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.
http://purl.obolibrary.org/obo/MONDO_0005684	bulbar polio	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)
http://purl.obolibrary.org/obo/MONDO_0005687	Caliciviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.
http://purl.obolibrary.org/obo/MONDO_0005688	campylobacteriosis	http://purl.obolibrary.org/obo/MONDO_0002269	gastroenteritis		Infections with bacteria of the genus campylobacter.
http://purl.obolibrary.org/obo/MONDO_0005689	cannabis dependence	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		Physical and psychological dependence on the drug cannabis.
http://purl.obolibrary.org/obo/MONDO_0005690	Caplan syndrome	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.
http://purl.obolibrary.org/obo/MONDO_0005691	cardiovirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005914	Picornaviridae infectious disease		Infections caused by viruses of the genus cardiovirus, family picornaviridae.
http://purl.obolibrary.org/obo/MONDO_0005692	cat-scratch disease	http://purl.obolibrary.org/obo/MONDO_0005664	bartonellosis		Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.
http://purl.obolibrary.org/obo/MONDO_0005693	cauda equina syndrome	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.
http://purl.obolibrary.org/obo/MONDO_0005694	cecal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005401	colonic neoplasm		A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.
http://purl.obolibrary.org/obo/MONDO_0005695	central nervous system AIDS arteritis	http://purl.obolibrary.org/obo/MONDO_0005109	HIV infectious disease		Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.
http://purl.obolibrary.org/obo/MONDO_0005696	central nervous system tuberculosis	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.
http://purl.obolibrary.org/obo/MONDO_0005697	cerebral toxoplasmosis	http://purl.obolibrary.org/obo/MONDO_0005989	toxoplasmosis		Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)
http://purl.obolibrary.org/obo/MONDO_0005698	cervical incompetence	http://purl.obolibrary.org/obo/MONDO_0002256	cervix disorder		A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.
http://purl.obolibrary.org/obo/MONDO_0005699	cervicofacial actinomycosis	http://purl.obolibrary.org/obo/MONDO_0005631	actinomycosis		A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses.
http://purl.obolibrary.org/obo/MONDO_0005700	chickenpox	http://purl.obolibrary.org/obo/MONDO_0006617	vesiculobullous skin disease		A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.
http://purl.obolibrary.org/obo/MONDO_0005701	chlamydia trachomatis infectious disease	http://purl.obolibrary.org/obo/MONDO_0021697	chlamydia infectious disease		An infection that is caused by Chlamydia trachomatis.
http://purl.obolibrary.org/obo/MONDO_0005704	Ciliophora infectious disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		Infections with protozoa of the phylum ciliophora.
http://purl.obolibrary.org/obo/MONDO_0005705	clonorchiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0005706	coccidioidomycosis	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.
http://purl.obolibrary.org/obo/MONDO_0005707	coccidiosis	http://purl.obolibrary.org/obo/MONDO_0002428	protozoa infectious disease		A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.
http://purl.obolibrary.org/obo/MONDO_0005708	Colorado tick fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.
http://purl.obolibrary.org/obo/MONDO_0005709	common cold	http://purl.obolibrary.org/obo/MONDO_0024352	viral respiratory tract infection		An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain.
http://purl.obolibrary.org/obo/MONDO_0005710	composite lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.
http://purl.obolibrary.org/obo/MONDO_0005711	congenital diaphragmatic hernia	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.
http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
http://purl.obolibrary.org/obo/MONDO_0005714	congenital syphilis	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.
http://purl.obolibrary.org/obo/MONDO_0005715	congenital toxoplasmosis	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		Toxoplasma infection that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0005716	contagious pleuropneumonia	http://purl.obolibrary.org/obo/MONDO_0005249	pneumonia		A pleuropneumonia of cattle and goats caused by species of mycoplasma.
http://purl.obolibrary.org/obo/MONDO_0005717	contagious pustular dermatitis	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.
http://purl.obolibrary.org/obo/MONDO_0005718	Coronaviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005876	Nidovirales infectious disease		Virus diseases caused by coronaviridae.
http://purl.obolibrary.org/obo/MONDO_0005719	Coronavinae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).
http://purl.obolibrary.org/obo/MONDO_0005720	cowpox	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.
http://purl.obolibrary.org/obo/MONDO_0005721	coxsackievirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005747	enterovirus infectious disease		A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.
http://purl.obolibrary.org/obo/MONDO_0005722	croup	http://purl.obolibrary.org/obo/MONDO_0004777	acute laryngitis		Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.
http://purl.obolibrary.org/obo/MONDO_0005723	Cryptococcal meningitis	http://purl.obolibrary.org/obo/MONDO_0006764	fungal meningitis		Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)
http://purl.obolibrary.org/obo/MONDO_0005724	cryptococcosis	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004
http://purl.obolibrary.org/obo/MONDO_0005725	cyclosporiasis	http://purl.obolibrary.org/obo/MONDO_0005707	coccidiosis		A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.
http://purl.obolibrary.org/obo/MONDO_0005728	diaphragm disorder	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A disease involving the diaphragm.
http://purl.obolibrary.org/obo/MONDO_0005729	dicrocoeliasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infection with flukes of the genus Dicrocoelium.
http://purl.obolibrary.org/obo/MONDO_0005730	Dictyocaulus infectious disease	http://purl.obolibrary.org/obo/MONDO_0700204	trichostrongyloidiasis, non-human animal		Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation.
http://purl.obolibrary.org/obo/MONDO_0005734	dourine	http://purl.obolibrary.org/obo/MONDO_0024950	horse disease		A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia.
http://purl.obolibrary.org/obo/MONDO_0005736	eastern equine encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.
http://purl.obolibrary.org/obo/MONDO_0005737	Ebola hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate.
http://purl.obolibrary.org/obo/MONDO_0005738	echinococcosis	http://purl.obolibrary.org/obo/MONDO_0042488	Cestode infectious disease		A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.
http://purl.obolibrary.org/obo/MONDO_0005739	echinostomiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infection by flukes of the genus Echinostoma.
http://purl.obolibrary.org/obo/MONDO_0005740	Echovirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005747	enterovirus infectious disease		Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.
http://purl.obolibrary.org/obo/MONDO_0005742	emphysematous cholecystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		Cholecystitis resulting from infection by gas producing organisms.
http://purl.obolibrary.org/obo/MONDO_0005743	encephalitozoonosis	http://purl.obolibrary.org/obo/MONDO_0005846	microsporidiosis		Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.
http://purl.obolibrary.org/obo/MONDO_0005744	yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003578	extragonadal nonseminomatous germ cell tumor		A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.
http://purl.obolibrary.org/obo/MONDO_0005745	Enoplea infectious disease	http://purl.obolibrary.org/obo/MONDO_0005871	Nematoda infectious disease		Infections with nematodes of the order enoplida.
http://purl.obolibrary.org/obo/MONDO_0005746	enterobiasis	http://purl.obolibrary.org/obo/MONDO_0005943	Rhabditida infectious disease		An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.
http://purl.obolibrary.org/obo/MONDO_0005747	enterovirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005914	Picornaviridae infectious disease		An disease caused by infection with Enterovirus.
http://purl.obolibrary.org/obo/MONDO_0005748	enzootic pneumonia of calves	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species.
http://purl.obolibrary.org/obo/MONDO_0005749	eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0005249	pneumonia		An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0005750	ephemeral fever	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness.
http://purl.obolibrary.org/obo/MONDO_0005751	epidemic pleurodynia	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.
http://purl.obolibrary.org/obo/MONDO_0005752	epidural abscess	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)
http://purl.obolibrary.org/obo/MONDO_0005753	epiglottitis	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		Inflammation of the epiglottis.
http://purl.obolibrary.org/obo/MONDO_0005754	epilepsy with generalized tonic-clonic seizures	http://purl.obolibrary.org/obo/MONDO_0800487	variable-age onset idiopathic generalized epilepsy syndrome		A generalized tonic-clonic seizure.
http://purl.obolibrary.org/obo/MONDO_0005755	equine infectious anemia	http://purl.obolibrary.org/obo/MONDO_0700170	equine neoplasm		Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions.
http://purl.obolibrary.org/obo/MONDO_0005756	ethmoid sinusitis	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.
http://purl.obolibrary.org/obo/MONDO_0005757	eumycotic mycetoma	http://purl.obolibrary.org/obo/MONDO_0005982	tinea infection		A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.
http://purl.obolibrary.org/obo/MONDO_0005758	eunuchism	http://purl.obolibrary.org/obo/MONDO_0002146	hypogonadism		The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.
http://purl.obolibrary.org/obo/MONDO_0005759	fascioloidiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.
http://purl.obolibrary.org/obo/MONDO_0005761	filarial elephantiasis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.
http://purl.obolibrary.org/obo/MONDO_0005762	Filoviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005856	Mononegavirales infectious disease		Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.
http://purl.obolibrary.org/obo/MONDO_0005763	Flaviviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Infections with viruses of the family flaviviridae.
http://purl.obolibrary.org/obo/MONDO_0005764	follicular dendritic cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0017345	Epstein-Barr virus-associated mesenchymal tumor		A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.
http://purl.obolibrary.org/obo/MONDO_0005765	foot and mouth disease	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness.
http://purl.obolibrary.org/obo/MONDO_0005766	fungal lung infectious disease	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		Pulmonary diseases caused by fungal infections, usually through hematogenous spread.
http://purl.obolibrary.org/obo/MONDO_0005767	gas gangrene	http://purl.obolibrary.org/obo/MONDO_0023149	infection due to clostridium perfringens		A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.
http://purl.obolibrary.org/obo/MONDO_0005768	gastrointestinal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000368	extrapulmonary tuberculosis		Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.
http://purl.obolibrary.org/obo/MONDO_0005769	geniculate herpes zoster	http://purl.obolibrary.org/obo/MONDO_0021666	ear infection		A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.
http://purl.obolibrary.org/obo/MONDO_0005770	genital herpes	http://purl.obolibrary.org/obo/MONDO_0021682	viral sexually transmitted disease		Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.
http://purl.obolibrary.org/obo/MONDO_0005771	geographic tongue	http://purl.obolibrary.org/obo/MONDO_0001989	atrophic glossitis		A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment.
http://purl.obolibrary.org/obo/MONDO_0005772	geotrichosis	http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis		Infection due to the fungus Geotrichum.
http://purl.obolibrary.org/obo/MONDO_0005773	Gerstmann syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.
http://purl.obolibrary.org/obo/MONDO_0005774	glanders	http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease		A condition resulting from infection by Burkholderia mallei, which mainly affects horses.
http://purl.obolibrary.org/obo/MONDO_0005775	G6PD deficiency	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
http://purl.obolibrary.org/obo/MONDO_0005776	gnathomiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).
http://purl.obolibrary.org/obo/MONDO_0005777	granuloma inguinale	http://purl.obolibrary.org/obo/MONDO_0005323	bacterial sexually transmitted disease		A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.
http://purl.obolibrary.org/obo/MONDO_0005778	haemonchiasis	http://purl.obolibrary.org/obo/MONDO_0005994	trichostrongyloidiasis		Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.
http://purl.obolibrary.org/obo/MONDO_0005779	hand, foot and mouth disease	http://purl.obolibrary.org/obo/MONDO_0005721	coxsackievirus infectious disease		A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.
http://purl.obolibrary.org/obo/MONDO_0005780	hantavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0021641	Bunyaviridae infectious disease		Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.
http://purl.obolibrary.org/obo/MONDO_0005783	hemopericardium	http://purl.obolibrary.org/obo/MONDO_0001370	pericardial effusion		An accumulation of blood within the pericardial sac.
http://purl.obolibrary.org/obo/MONDO_0005784	hantavirus hemorrhagic fever with renal syndrome	http://purl.obolibrary.org/obo/MONDO_0005780	hantavirus infectious disease		A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.
http://purl.obolibrary.org/obo/MONDO_0005785	henipavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005896	Paramyxoviridae infectious disease		Infections with viruses of the genus henipavirus, family paramyxoviridae.
http://purl.obolibrary.org/obo/MONDO_0005786	Hepadnaviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Virus diseases caused by the hepadnaviridae.
http://purl.obolibrary.org/obo/MONDO_0005787	hepatic tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006743	endocrine tuberculosis		Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.
http://purl.obolibrary.org/obo/MONDO_0005788	hepatitis E virus infection	http://purl.obolibrary.org/obo/MONDO_0006011	viral hepatitis		Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.
http://purl.obolibrary.org/obo/MONDO_0005789	hepatitis D virus infection	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.
http://purl.obolibrary.org/obo/MONDO_0005790	hepatitis A virus infection	http://purl.obolibrary.org/obo/MONDO_0006011	viral hepatitis		Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.
http://purl.obolibrary.org/obo/MONDO_0005791	herpangina	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.
http://purl.obolibrary.org/obo/MONDO_0005792	herpes simplex virus gingivostomatitis	http://purl.obolibrary.org/obo/MONDO_0004842	stomatitis		Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.
http://purl.obolibrary.org/obo/MONDO_0005794	Herpesviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Virus diseases caused by the herpesviridae.
http://purl.obolibrary.org/obo/MONDO_0005796	HIV enteropathy	http://purl.obolibrary.org/obo/MONDO_0024571	AIDS-related disorder		A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)
http://purl.obolibrary.org/obo/MONDO_0005797	HIV wasting syndrome	http://purl.obolibrary.org/obo/MONDO_0024571	AIDS-related disorder		Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).
http://purl.obolibrary.org/obo/MONDO_0005798	HIV-associated nephropathy	http://purl.obolibrary.org/obo/MONDO_0024571	AIDS-related disorder		Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.
http://purl.obolibrary.org/obo/MONDO_0005799	hookworm infectious disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.
http://purl.obolibrary.org/obo/MONDO_0005800	hordeolum	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess.
http://purl.obolibrary.org/obo/MONDO_0005801	human T-lymphotropic virus 1 infectious disease	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.
http://purl.obolibrary.org/obo/MONDO_0005802	hymenolepiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.
http://purl.obolibrary.org/obo/MONDO_0005803	hyperinsulinemic hypoglycemia	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.
http://purl.obolibrary.org/obo/MONDO_0005804	hyperprolactinemia	http://purl.obolibrary.org/obo/MONDO_0006793	hyperpituitarism		Abnormally high level of prolactin in the blood.
http://purl.obolibrary.org/obo/MONDO_0005805	hypodermyiasis	http://purl.obolibrary.org/obo/MONDO_0019147	myiasis		Infestation with larvae of the genus Hypoderma, the warble fly.
http://purl.obolibrary.org/obo/MONDO_0005806	hypopharynx cancer	http://purl.obolibrary.org/obo/MONDO_0021358	neoplasm of hypopharynx		A primary or metastatic malignant neoplasm that affects the hypopharynx.
http://purl.obolibrary.org/obo/MONDO_0005807	idiopathic CD4-positive T-lymphocytopenia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.
http://purl.obolibrary.org/obo/MONDO_0005808	inclusion conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0006668	bacterial conjunctivitis		Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.
http://purl.obolibrary.org/obo/MONDO_0005809	infectious ectromelia	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A viral infection of mice, causing edema and necrosis followed by limb loss.
http://purl.obolibrary.org/obo/MONDO_0005810	infectious mononucleosis	http://purl.obolibrary.org/obo/MONDO_0005111	Epstein-Barr virus infection		A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus.
http://purl.obolibrary.org/obo/MONDO_0005811	infectious myxomatosis	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties.
http://purl.obolibrary.org/obo/MONDO_0005812	influenza	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.
http://purl.obolibrary.org/obo/MONDO_0005813	interdigitating dendritic cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0004380	dendritic cell sarcoma		A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)
http://purl.obolibrary.org/obo/MONDO_0005814	intestinal cancer	http://purl.obolibrary.org/obo/MONDO_0002516	digestive system cancer		A malignant neoplasm involving the intestine
http://purl.obolibrary.org/obo/MONDO_0005815	pancreatic neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0024503	digestive system neuroendocrine neoplasm		A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/MONDO_0005817	Kluver-Bucy syndrome	http://purl.obolibrary.org/obo/MONDO_0020067	infectious encephalitis		Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.
http://purl.obolibrary.org/obo/MONDO_0005819	laryngeal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.
http://purl.obolibrary.org/obo/MONDO_0005820	Lassa fever	http://purl.obolibrary.org/obo/MONDO_0044750	lassa virus infectious disease		A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.
http://purl.obolibrary.org/obo/MONDO_0005822	latent syphilis	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.
http://purl.obolibrary.org/obo/MONDO_0005823	legionellosis	http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease		Any disease caused by Legionella bacteria.
http://purl.obolibrary.org/obo/MONDO_0005824	Legionnaires' disease	http://purl.obolibrary.org/obo/MONDO_0005823	legionellosis		A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.
http://purl.obolibrary.org/obo/MONDO_0005825	leptospirosis	http://purl.obolibrary.org/obo/MONDO_0021839	spirochaetales infections		A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.
http://purl.obolibrary.org/obo/MONDO_0005826	lipid pneumonia	http://purl.obolibrary.org/obo/MONDO_0002572	aspiration pneumonitis		Pneumonia due to aspiration or inhalation of various oily or fatty substances.
http://purl.obolibrary.org/obo/MONDO_0005827	lipoatrophic diabetes	http://purl.obolibrary.org/obo/MONDO_0005148	type 2 diabetes mellitus		A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.
http://purl.obolibrary.org/obo/MONDO_0005828	listeriosis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.
http://purl.obolibrary.org/obo/MONDO_0005829	louping ill	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.
http://purl.obolibrary.org/obo/MONDO_0005830	lumpy skin disease	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.
http://purl.obolibrary.org/obo/MONDO_0005831	lymph node tuberculosis	http://purl.obolibrary.org/obo/MONDO_0004928	lymph node disorder		Tuberculosis of the lymph node.
http://purl.obolibrary.org/obo/MONDO_0005832	lymphangitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		Inflammation of the lymphatic vessels.
http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder	http://purl.obolibrary.org/obo/MONDO_0044986	lymphoid system disorder		A disease involving the lymphatic part of lymphoid system.
http://purl.obolibrary.org/obo/MONDO_0005834	lymphogranuloma venereum	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		Infection with the organism Mycobacterium.
http://purl.obolibrary.org/obo/MONDO_0005835	Lynch syndrome	http://purl.obolibrary.org/obo/MONDO_0018630	hereditary nonpolyposis colon cancer		An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.
http://purl.obolibrary.org/obo/MONDO_0005836	male reproductive organ cancer	http://purl.obolibrary.org/obo/MONDO_0024582	male reproductive system neoplasm		A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005837	mandibular cancer	http://purl.obolibrary.org/obo/MONDO_0002131	jaw cancer		A malignant neoplasm involving the mandible
http://purl.obolibrary.org/obo/MONDO_0005838	mansonelliasis	http://purl.obolibrary.org/obo/MONDO_0016075	filariasis		A parasitic infection caused by the nematode Mansonella, including M. ozzardi, M. perstans (Dipetalonema perstans), and M. streptocerca (Dipetalonema streptocerca). Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.
http://purl.obolibrary.org/obo/MONDO_0005841	maxillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0021580	neoplasm of jaw		Cancer or tumors of the maxilla or upper jaw.
http://purl.obolibrary.org/obo/MONDO_0005842	maxillary sinusitis	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.
http://purl.obolibrary.org/obo/MONDO_0005843	mediastinal cancer	http://purl.obolibrary.org/obo/MONDO_0021386	neoplasm of mediastinum		A malignant neoplasm involving the mediastinum
http://purl.obolibrary.org/obo/MONDO_0005844	chalazion	http://purl.obolibrary.org/obo/MONDO_0004917	internal hordeolum		An eyelid cyst caused by the blockage of a meibomian gland.
http://purl.obolibrary.org/obo/MONDO_0005845	meningoencephalitis	http://purl.obolibrary.org/obo/MONDO_0019956	encephalitis		Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.
http://purl.obolibrary.org/obo/MONDO_0005846	microsporidiosis	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.
http://purl.obolibrary.org/obo/MONDO_0005847	middle lobe syndrome	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0005848	miliary tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000368	extrapulmonary tuberculosis		I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma.
http://purl.obolibrary.org/obo/MONDO_0005850	milker's nodule	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Virus diseases caused by the poxviridae.
http://purl.obolibrary.org/obo/MONDO_0005851	Miller Fisher syndrome	http://purl.obolibrary.org/obo/MONDO_0002427	cerebellar disorder		An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.
http://purl.obolibrary.org/obo/MONDO_0005852	mitral valve stenosis	http://purl.obolibrary.org/obo/MONDO_0003767	mitral valve disorder		Narrowing of the left atrioventricular mitral orifice.
http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.
http://purl.obolibrary.org/obo/MONDO_0005854	mixed connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0016663	overlapping connective tissue disease		Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.
http://purl.obolibrary.org/obo/MONDO_0005855	molluscum contagiosum	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0005856	Mononegavirales infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.
http://purl.obolibrary.org/obo/MONDO_0005857	morbillivirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005896	Paramyxoviridae infectious disease		Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.
http://purl.obolibrary.org/obo/MONDO_0005858	mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005596	cystadenocarcinoma		An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.
http://purl.obolibrary.org/obo/MONDO_0005859	mucocutaneous leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0011989	leishmaniasis		The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.
http://purl.obolibrary.org/obo/MONDO_0005861	multidrug-resistant tuberculosis	http://purl.obolibrary.org/obo/MONDO_0041806	drug-resistant tuberculosis		A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.
http://purl.obolibrary.org/obo/MONDO_0005864	muscle cancer	http://purl.obolibrary.org/obo/MONDO_0000637	musculoskeletal system cancer		A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.
http://purl.obolibrary.org/obo/MONDO_0005865	mushroom workers' lung	http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease		An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.
http://purl.obolibrary.org/obo/MONDO_0005866	Mycobacterium avium complex disease	http://purl.obolibrary.org/obo/MONDO_0020590	mycobacterial infectious disease		An infection that is caused by Mycobacterium avium.
http://purl.obolibrary.org/obo/MONDO_0005867	Mycoplasma pneumoniae pneumonia	http://purl.obolibrary.org/obo/MONDO_1030003	Mycoplasmoides infection		Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.
http://purl.obolibrary.org/obo/MONDO_0005868	myelophthisic anemia	http://purl.obolibrary.org/obo/MONDO_0015909	aplastic anemia		An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas.
http://purl.obolibrary.org/obo/MONDO_0005870	necatoriasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.
http://purl.obolibrary.org/obo/MONDO_0005871	Nematoda infectious disease	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.
http://purl.obolibrary.org/obo/MONDO_0005872	nervous system cancer	http://purl.obolibrary.org/obo/MONDO_0021248	nervous system neoplasm		A primary or metastatic malignant neoplasm involving the nervous system.
http://purl.obolibrary.org/obo/MONDO_0005873	neuroaspergillosis	http://purl.obolibrary.org/obo/MONDO_0005657	aspergillosis		Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)
http://purl.obolibrary.org/obo/MONDO_0005874	neuroschistosomiasis	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)
http://purl.obolibrary.org/obo/MONDO_0005875	Newcastle disease	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.
http://purl.obolibrary.org/obo/MONDO_0005876	Nidovirales infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.
http://purl.obolibrary.org/obo/MONDO_0005878	ocular onchocerciasis	http://purl.obolibrary.org/obo/MONDO_0020947	parasitic eye infection		Onchocerciasis affecting the eye.
http://purl.obolibrary.org/obo/MONDO_0005879	ocular toxoplasmosis	http://purl.obolibrary.org/obo/MONDO_0020947	parasitic eye infection		Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.
http://purl.obolibrary.org/obo/MONDO_0005880	oesophagostomiasis	http://purl.obolibrary.org/obo/MONDO_0005943	Rhabditida infectious disease		Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.
http://purl.obolibrary.org/obo/MONDO_0005881	oligohydramnios	http://purl.obolibrary.org/obo/MONDO_0005917	placenta disorder		A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.
http://purl.obolibrary.org/obo/MONDO_0005883	ophthalmic herpes zoster	http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system		Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.
http://purl.obolibrary.org/obo/MONDO_0005884	opisthorchiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infection with flukes of the genus Opisthorchis.
http://purl.obolibrary.org/obo/MONDO_0005885	optic neuritis	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.
http://purl.obolibrary.org/obo/MONDO_0005886	oral candidiasis	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		Infection of the mucosal lining of the mouth with the fungus Candida albicans.
http://purl.obolibrary.org/obo/MONDO_0005887	oral tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		Tuberculosis of the mouth, tongue, and salivary glands.
http://purl.obolibrary.org/obo/MONDO_0005888	ornithosis	http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease		Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.
http://purl.obolibrary.org/obo/MONDO_0005890	osteitis fibrosa	http://purl.obolibrary.org/obo/MONDO_0000837	bone resorption disease		A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.
http://purl.obolibrary.org/obo/MONDO_0005891	ostertagiasis	http://purl.obolibrary.org/obo/MONDO_0005994	trichostrongyloidiasis		A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.
http://purl.obolibrary.org/obo/MONDO_0005892	otitis media with effusion	http://purl.obolibrary.org/obo/MONDO_0021206	chronic non-suppurative otitis media		Otitis media associated with accumulation of fluid in the middle ear.
http://purl.obolibrary.org/obo/MONDO_0005893	pancreatic endocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0009831	malignant pancreatic neoplasm		An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.
http://purl.obolibrary.org/obo/MONDO_0005894	paracoccidioidomycosis	http://purl.obolibrary.org/obo/MONDO_0000308	primary systemic mycosis		A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.
http://purl.obolibrary.org/obo/MONDO_0005895	paragonimiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.
http://purl.obolibrary.org/obo/MONDO_0005896	Paramyxoviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005856	Mononegavirales infectious disease		Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.
http://purl.obolibrary.org/obo/MONDO_0005898	paronychia	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.
http://purl.obolibrary.org/obo/MONDO_0005899	parotid disorder	http://purl.obolibrary.org/obo/MONDO_0001142	salivary gland disorder		A disease involving the parotid gland.
http://purl.obolibrary.org/obo/MONDO_0005900	parotitis	http://purl.obolibrary.org/obo/MONDO_0005899	parotid disorder		Inflammation of the parotid glands.
http://purl.obolibrary.org/obo/MONDO_0005901	pasteurellosis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the genus pasteurella.
http://purl.obolibrary.org/obo/MONDO_0005903	pericardial tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005904	pericarditis		Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.
http://purl.obolibrary.org/obo/MONDO_0005904	pericarditis	http://purl.obolibrary.org/obo/MONDO_0000474	pericardium disorder		An inflammatory process affecting the pericardium.
http://purl.obolibrary.org/obo/MONDO_0005905	periodic limb movement disorder	http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder		Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)
http://purl.obolibrary.org/obo/MONDO_0005906	peritonsillar abscess	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		An abscess that develops in the space surrounding one or both palatine tonsils.
http://purl.obolibrary.org/obo/MONDO_0005907	persian gulf syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)
http://purl.obolibrary.org/obo/MONDO_0005908	peste des petits ruminants infectious disease	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia.
http://purl.obolibrary.org/obo/MONDO_0005909	pestivirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005763	Flaviviridae infectious disease		Infections with viruses of the genus pestivirus, family flaviviridae.
http://purl.obolibrary.org/obo/MONDO_0005910	phagocyte bactericidal dysfunction	http://purl.obolibrary.org/obo/MONDO_0024627	phagocytic cell dysfunction		Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.
http://purl.obolibrary.org/obo/MONDO_0005911	pharyngoconjunctival fever	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.
http://purl.obolibrary.org/obo/MONDO_0005912	phencyclidine abuse	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.
http://purl.obolibrary.org/obo/MONDO_0005913	phlebotomus fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.
http://purl.obolibrary.org/obo/MONDO_0005914	Picornaviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Virus diseases caused by the picornaviridae.
http://purl.obolibrary.org/obo/MONDO_0005915	pityriasis versicolor	http://purl.obolibrary.org/obo/MONDO_0024268	superficial mycosis		A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition.
http://purl.obolibrary.org/obo/MONDO_0005916	placenta accreta	http://purl.obolibrary.org/obo/MONDO_0005917	placenta disorder		The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)
http://purl.obolibrary.org/obo/MONDO_0005917	placenta disorder	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		A disease involving the placenta.
http://purl.obolibrary.org/obo/MONDO_0005918	placenta praevia	http://purl.obolibrary.org/obo/MONDO_0005917	placenta disorder		Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.
http://purl.obolibrary.org/obo/MONDO_0005919	placental insufficiency	http://purl.obolibrary.org/obo/MONDO_0005917	placenta disorder		Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.
http://purl.obolibrary.org/obo/MONDO_0005920	Plasmodium falciparum malaria	http://purl.obolibrary.org/obo/MONDO_0005136	malaria		Malaria resulting from infection by Plasmodium falciparum.
http://purl.obolibrary.org/obo/MONDO_0005921	Plasmodium vivax malaria	http://purl.obolibrary.org/obo/MONDO_0005136	malaria		Malaria resulting from infection by Plasmodium vivax.
http://purl.obolibrary.org/obo/MONDO_0005922	pleural tuberculosis	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.
http://purl.obolibrary.org/obo/MONDO_0005923	Pneumocystis infectious disease	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.
http://purl.obolibrary.org/obo/MONDO_0005925	pneumonic pasteurellosis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.
http://purl.obolibrary.org/obo/MONDO_0005927	polyomavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).
http://purl.obolibrary.org/obo/MONDO_0005928	post-thrombotic syndrome	http://purl.obolibrary.org/obo/MONDO_0000945	venous insufficiency		A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.
http://purl.obolibrary.org/obo/MONDO_0005929	postpartum depression	http://purl.obolibrary.org/obo/MONDO_0002050	depressive disorder		A type of clinical depression that occurs after childbirth.
http://purl.obolibrary.org/obo/MONDO_0005932	pseudorabies	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.
http://purl.obolibrary.org/obo/MONDO_0005933	pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0006279	lung sarcomatoid carcinoma		A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.
http://purl.obolibrary.org/obo/MONDO_0005936	recurrent pneumonia	http://purl.obolibrary.org/obo/MONDO_0005249	pneumonia		Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.
http://purl.obolibrary.org/obo/MONDO_0005937	REM sleep behavior disorder	http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder		A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)
http://purl.obolibrary.org/obo/MONDO_0005938	renal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006002	urogenital tuberculosis		Infection of the kidney due to mycobacteria.
http://purl.obolibrary.org/obo/MONDO_0005939	Reoviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Infections produced by reoviruses, general or unspecified.
http://purl.obolibrary.org/obo/MONDO_0005940	respirovirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005896	Paramyxoviridae infectious disease		Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface.
http://purl.obolibrary.org/obo/MONDO_0005941	retroperitoneal cancer	http://purl.obolibrary.org/obo/MONDO_0024645	retroperitoneal neoplasm		A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.
http://purl.obolibrary.org/obo/MONDO_0005942	Reye syndrome	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.
http://purl.obolibrary.org/obo/MONDO_0005943	Rhabditida infectious disease	http://purl.obolibrary.org/obo/MONDO_0005871	Nematoda infectious disease		Infections with nematodes of the order rhabditida.
http://purl.obolibrary.org/obo/MONDO_0005944	Rhabdoviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005856	Mononegavirales infectious disease		Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis.
http://purl.obolibrary.org/obo/MONDO_0005945	rhinoscleroma	http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease		A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.
http://purl.obolibrary.org/obo/MONDO_0005946	rhinosporidiosis	http://purl.obolibrary.org/obo/MONDO_0000307	parasitic Ichthyosporea infectious disease		Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.
http://purl.obolibrary.org/obo/MONDO_0005947	rickettsial pneumonia	http://purl.obolibrary.org/obo/MONDO_0041850	pneumonia caused by gram negative bacteria		Pneumonia caused by infection with bacteria of the family rickettsiaceae.
http://purl.obolibrary.org/obo/MONDO_0005949	roseolovirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005794	Herpesviridae infectious disease		Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.
http://purl.obolibrary.org/obo/MONDO_0005950	Salmonella gastroenteritis	http://purl.obolibrary.org/obo/MONDO_0002269	gastroenteritis		Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply.
http://purl.obolibrary.org/obo/MONDO_0005952	scarlet fever	http://purl.obolibrary.org/obo/MONDO_0021680	streptococcal infection		A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.
http://purl.obolibrary.org/obo/MONDO_0005953	scirrhous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction.
http://purl.obolibrary.org/obo/MONDO_0005954	screw worm infectious disease	http://purl.obolibrary.org/obo/MONDO_0019147	myiasis		Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.
http://purl.obolibrary.org/obo/MONDO_0005956	septicemic plague	http://purl.obolibrary.org/obo/MONDO_0019095	plague		A plague in which the bacteria have entered the bloodstream.
http://purl.obolibrary.org/obo/MONDO_0005957	setariasis	http://purl.obolibrary.org/obo/MONDO_0016075	filariasis		Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.
http://purl.obolibrary.org/obo/MONDO_0005959	sick building syndrome	http://purl.obolibrary.org/obo/MONDO_0017853	hypersensitivity pneumonitis		A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)
http://purl.obolibrary.org/obo/MONDO_0005960	silicosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.
http://purl.obolibrary.org/obo/MONDO_0005961	sinusitis	http://purl.obolibrary.org/obo/MONDO_0001735	paranasal sinus disorder		An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.
http://purl.obolibrary.org/obo/MONDO_0005962	skeletal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		Tuberculosis of the bones or joints.
http://purl.obolibrary.org/obo/MONDO_0005963	sparganosis	http://purl.obolibrary.org/obo/MONDO_0042488	Cestode infectious disease		A condition resulting from infection with the second stage larvae of the parasite Spirometra.
http://purl.obolibrary.org/obo/MONDO_0005964	sphenoid sinusitis	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.
http://purl.obolibrary.org/obo/MONDO_0005965	spinal stenosis	http://purl.obolibrary.org/obo/MONDO_0000836	disease of bone structure		Narrowing of the spinal canal.
http://purl.obolibrary.org/obo/MONDO_0005966	spleen cancer	http://purl.obolibrary.org/obo/MONDO_0002516	digestive system cancer		A malignant neoplasm involving the spleen
http://purl.obolibrary.org/obo/MONDO_0005967	splenic tuberculosis	http://purl.obolibrary.org/obo/MONDO_0002332	splenic disorder		Infection of the spleen with species of mycobacterium.
http://purl.obolibrary.org/obo/MONDO_0005968	sporotrichosis	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.
http://purl.obolibrary.org/obo/MONDO_0005969	st. Louis encephalitis	http://purl.obolibrary.org/obo/MONDO_0005763	Flaviviridae infectious disease		A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)
http://purl.obolibrary.org/obo/MONDO_0005970	staphylococcal pneumonia	http://purl.obolibrary.org/obo/MONDO_0024313	staphylococcal infection		Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.
http://purl.obolibrary.org/obo/MONDO_0005971	staphyloenterotoxemia	http://purl.obolibrary.org/obo/MONDO_0024313	staphylococcal infection		Food poisoning that is caused by Staphylococcal infection.
http://purl.obolibrary.org/obo/MONDO_0005972	streptococcal pneumonia	http://purl.obolibrary.org/obo/MONDO_0005114	pneumococcal infection		A febrile disease caused by streptococcus pneumoniae.
http://purl.obolibrary.org/obo/MONDO_0005973	Strongylida infectious disease	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		Infections with nematodes of the order strongylida.
http://purl.obolibrary.org/obo/MONDO_0005974	strongyloidiasis	http://purl.obolibrary.org/obo/MONDO_0005943	Rhabditida infectious disease		An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection.
http://purl.obolibrary.org/obo/MONDO_0005975	suppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0005441	otitis media		Inflammation of the middle ear with purulent discharge.
http://purl.obolibrary.org/obo/MONDO_0005976	syphilis	http://purl.obolibrary.org/obo/MONDO_0007000	Treponema infectious disease		A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.
http://purl.obolibrary.org/obo/MONDO_0005977	tabes dorsalis	http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system		A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.
http://purl.obolibrary.org/obo/MONDO_0005978	theileriasis	http://purl.obolibrary.org/obo/MONDO_0002428	protozoa infectious disease		Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.
http://purl.obolibrary.org/obo/MONDO_0005979	thoracic outlet syndrome	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.
http://purl.obolibrary.org/obo/MONDO_0005980	tick infestation	http://purl.obolibrary.org/obo/MONDO_0002875	parasitic ectoparasitic infectious disease		Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.
http://purl.obolibrary.org/obo/MONDO_0005981	tick paralysis	http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system		Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.
http://purl.obolibrary.org/obo/MONDO_0005982	tinea infection	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		A skin infection caused by a fungus.
http://purl.obolibrary.org/obo/MONDO_0005983	tinea favosa	http://purl.obolibrary.org/obo/MONDO_0005982	tinea infection		A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.
http://purl.obolibrary.org/obo/MONDO_0005984	tinea pedis	http://purl.obolibrary.org/obo/MONDO_0004678	dermatophytosis		Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.
http://purl.obolibrary.org/obo/MONDO_0005985	Togaviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Virus diseases caused by the togaviridae.
http://purl.obolibrary.org/obo/MONDO_0005986	torovirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005876	Nidovirales infectious disease		Infections with viruses of the genus torovirus, family coronaviridae.
http://purl.obolibrary.org/obo/MONDO_0005987	toxascariasis	http://purl.obolibrary.org/obo/MONDO_0005656	Ascaridida infectious disease		Infections with nematodes of the genus toxascaris.
http://purl.obolibrary.org/obo/MONDO_0005988	toxocariasis	http://purl.obolibrary.org/obo/MONDO_0005656	Ascaridida infectious disease		A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.
http://purl.obolibrary.org/obo/MONDO_0005989	toxoplasmosis	http://purl.obolibrary.org/obo/MONDO_0005707	coccidiosis		A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.
http://purl.obolibrary.org/obo/MONDO_0005990	tracheitis	http://purl.obolibrary.org/obo/MONDO_0021925	tracheobronchitis		A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions.
http://purl.obolibrary.org/obo/MONDO_0005991	trench fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.
http://purl.obolibrary.org/obo/MONDO_0005993	Trichomonas vaginitis urogenital infection	http://purl.obolibrary.org/obo/MONDO_0021681	sexually transmitted disease		A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.
http://purl.obolibrary.org/obo/MONDO_0005994	trichostrongyloidiasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.
http://purl.obolibrary.org/obo/MONDO_0005995	trichostrongylosis	http://purl.obolibrary.org/obo/MONDO_0005994	trichostrongyloidiasis		Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.
http://purl.obolibrary.org/obo/MONDO_0005996	trichuriasis	http://purl.obolibrary.org/obo/MONDO_0005745	Enoplea infectious disease		An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.
http://purl.obolibrary.org/obo/MONDO_0005997	tricuspid valve stenosis	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		Narrowing or stricture of the tricuspid orifice of the heart.
http://purl.obolibrary.org/obo/MONDO_0005998	trombiculiasis	http://purl.obolibrary.org/obo/MONDO_0004389	mite infestation		Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.
http://purl.obolibrary.org/obo/MONDO_0005999	tuberculous empyema	http://purl.obolibrary.org/obo/MONDO_0018667	pleural empyema		An empyema resulting from infection by Mycobacterium tuberculosis.
http://purl.obolibrary.org/obo/MONDO_0006000	tuberculous peritonitis	http://purl.obolibrary.org/obo/MONDO_0005768	gastrointestinal tuberculosis		A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.
http://purl.obolibrary.org/obo/MONDO_0006001	urinary schistosomiasis	http://purl.obolibrary.org/obo/MONDO_0100338	urinary tract infection		A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.
http://purl.obolibrary.org/obo/MONDO_0006002	urogenital tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000368	extrapulmonary tuberculosis		A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.
http://purl.obolibrary.org/obo/MONDO_0006003	uterine corpus cancer	http://purl.obolibrary.org/obo/MONDO_0021254	corpus uteri neoplasm		A malignant neoplasm involving the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0006004	vasomotor rhinitis	http://purl.obolibrary.org/obo/MONDO_0011786	allergic rhinitis		Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.
http://purl.obolibrary.org/obo/MONDO_0006005	Venezuelan equine encephalitis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.
http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002979	papillary squamous carcinoma		A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot.
http://purl.obolibrary.org/obo/MONDO_0006007	vesicoureteral reflux	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		Abnormal flow of urine from the urinary bladder back into the ureters.
http://purl.obolibrary.org/obo/MONDO_0006008	vestibular neuronitis	http://purl.obolibrary.org/obo/MONDO_0002122	neuritis		Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)
http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Encephalitis resulting from viral infection.
http://purl.obolibrary.org/obo/MONDO_0006010	salmonid viral hemorrhagic septicemia	http://purl.obolibrary.org/obo/MONDO_0700072	Rhabdoviridae infectious disease, non-human animal		A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus),
http://purl.obolibrary.org/obo/MONDO_0006011	viral hepatitis	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.
http://purl.obolibrary.org/obo/MONDO_0006012	viral pneumonia	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Inflammation of the lung parenchyma that is caused by a viral infection.
http://purl.obolibrary.org/obo/MONDO_0006013	visna disease	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie.
http://purl.obolibrary.org/obo/MONDO_0006014	vulvovaginal candidiasis	http://purl.obolibrary.org/obo/MONDO_0023557	infective vaginitis		Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection.
http://purl.obolibrary.org/obo/MONDO_0006015	Waterhouse-Friderichsen syndrome	http://purl.obolibrary.org/obo/MONDO_0019801	acute adrenal insufficiency		A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.
http://purl.obolibrary.org/obo/MONDO_0006018	Wissler syndrome	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.
http://purl.obolibrary.org/obo/MONDO_0006019	yaws	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.
http://purl.obolibrary.org/obo/MONDO_0006021	Prinzmetal angina	http://purl.obolibrary.org/obo/MONDO_0005356	coronary vasospasm		A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma.
http://purl.obolibrary.org/obo/MONDO_0006022	acidosis disorder	http://purl.obolibrary.org/obo/MONDO_0041261	disorder of acid-base balance		An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.
http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease	http://purl.obolibrary.org/obo/MONDO_0000429	autosomal genetic disease		Autosomal recessive form of disease.
http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		A disease involving the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0006027	breast synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0010434	synovial sarcoma		A synovial sarcoma (disease) that involves the breast.
http://purl.obolibrary.org/obo/MONDO_0006028	cecum adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006029	cecum carcinoma		A carcinoma that arises from glandular epithelial cells of the caecum
http://purl.obolibrary.org/obo/MONDO_0006029	cecum carcinoma	http://purl.obolibrary.org/obo/MONDO_0002033	cecum cancer		A carcinoma that arises from epithelial cells of the caecum
http://purl.obolibrary.org/obo/MONDO_0006030	chronic cystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		Recurrent infections of the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0006031	chronic rhinosinusitis	http://purl.obolibrary.org/obo/MONDO_0005961	sinusitis		Chronic form of sinusitis.
http://purl.obolibrary.org/obo/MONDO_0006032	cystitis	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		Inflammation of the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0006033	diffuse intrinsic pontine glioma	http://purl.obolibrary.org/obo/MONDO_0003869	childhood brain stem glioma		A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0006034	gastric adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006230	gastric squamous cell carcinoma		A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.
http://purl.obolibrary.org/obo/MONDO_0006035	gastric tubular adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005606	tubular adenocarcinoma		A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.
http://purl.obolibrary.org/obo/MONDO_0006036	granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0006055	sex cord-stromal tumor		A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.
http://purl.obolibrary.org/obo/MONDO_0006037	hydrolethalus syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
http://purl.obolibrary.org/obo/MONDO_0006038	indeterminate colitis	http://purl.obolibrary.org/obo/MONDO_0005292	colitis		It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.
http://purl.obolibrary.org/obo/MONDO_0006039	infectious colitis	http://purl.obolibrary.org/obo/MONDO_0005292	colitis		A viral or bacterial infectious process affecting the large intestine.
http://purl.obolibrary.org/obo/MONDO_0006040	lactic acidosis	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.
http://purl.obolibrary.org/obo/MONDO_0006041	lung carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0005454	lung neuroendocrine neoplasm		A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.
http://purl.obolibrary.org/obo/MONDO_0006042	meningeal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006670	bacterial meningitis		A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis.
http://purl.obolibrary.org/obo/MONDO_0006043	metaplastic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.
http://purl.obolibrary.org/obo/MONDO_0006044	nephrosclerosis	http://purl.obolibrary.org/obo/MONDO_0002286	renal artery disease		Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.
http://purl.obolibrary.org/obo/MONDO_0006045	ovarian clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005004	clear cell adenocarcinoma		A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.
http://purl.obolibrary.org/obo/MONDO_0006046	ovarian serous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024621	serous cystadenocarcinoma		A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.
http://purl.obolibrary.org/obo/MONDO_0006047	pancreatic adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005192	exocrine pancreatic carcinoma		A carcinoma that arises from glandular epithelial cells of the pancreas
http://purl.obolibrary.org/obo/MONDO_0006049	papillary lung adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.
http://purl.obolibrary.org/obo/MONDO_0006050	pleomorphic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004953	invasive ductal breast carcinoma		A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.
http://purl.obolibrary.org/obo/MONDO_0006052	pulmonary tuberculosis	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0006053	renal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0002513	kidney benign neoplasm		A leiomyoma that involves the kidney.
http://purl.obolibrary.org/obo/MONDO_0006054	reproductive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.
http://purl.obolibrary.org/obo/MONDO_0006055	sex cord-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0006054	reproductive system neoplasm		A neoplasm involving a sex cord.
http://purl.obolibrary.org/obo/MONDO_0006056	squamous cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006043	metaplastic breast carcinoma		A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.
http://purl.obolibrary.org/obo/MONDO_0006058	Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.
http://purl.obolibrary.org/obo/MONDO_0006059	nasal cavity squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.
http://purl.obolibrary.org/obo/MONDO_0006060	nasopharyngeal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A squamous cell carcinoma that arises from the nasopharynx.
http://purl.obolibrary.org/obo/MONDO_0006061	cervical artery dissection	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.
http://purl.obolibrary.org/obo/MONDO_0006065	lactose intolerance adult type	http://purl.obolibrary.org/obo/MONDO_0100345	lactose intolerance		Adult onset lactose intolerance
http://purl.obolibrary.org/obo/MONDO_0006066	acinar prostate adenocarcinoma, foamy gland variant	http://purl.obolibrary.org/obo/MONDO_0002493	prostatic acinar adenocarcinoma		A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0006067	acinar prostate mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	mucinous adenocarcinoma		A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.
http://purl.obolibrary.org/obo/MONDO_0006068	ACTH-producing pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0045058	ACTH-producing pituitary gland neoplasm		An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.
http://purl.obolibrary.org/obo/MONDO_0006069	ACTH-producing pituitary gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0045058	ACTH-producing pituitary gland neoplasm		A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease.
http://purl.obolibrary.org/obo/MONDO_0006071	adenofibroma	http://purl.obolibrary.org/obo/MONDO_0005167	fibroma		A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.
http://purl.obolibrary.org/obo/MONDO_0006073	adenomatoid odontogenic tumor	http://purl.obolibrary.org/obo/MONDO_0021445	benign neoplasm of oral cavity		A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.
http://purl.obolibrary.org/obo/MONDO_0006074	adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A carcinoma composed of malignant glandular cells and malignant squamous cells.
http://purl.obolibrary.org/obo/MONDO_0006075	adrenal gland myelolipoma	http://purl.obolibrary.org/obo/MONDO_0021511	benign neoplasm of adrenal gland		A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.
http://purl.obolibrary.org/obo/MONDO_0006076	adrenal gland neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005872	nervous system cancer		A neuroblastoma arising from the adrenal gland.
http://purl.obolibrary.org/obo/MONDO_0006077	adrenal medullary hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		A hyperplasia that involves the adrenal medulla.
http://purl.obolibrary.org/obo/MONDO_0006078	AIDS-related primary central nervous system lymphoma	http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor		A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.
http://purl.obolibrary.org/obo/MONDO_0006079	ameloblastic carcinoma	http://purl.obolibrary.org/obo/MONDO_0021192	odontogenic neoplasm		A rare, cytologically malignant ameloblastoma that may metastasize.
http://purl.obolibrary.org/obo/MONDO_0006081	anal melanoma	http://purl.obolibrary.org/obo/MONDO_0002167	rectum malignant melanoma		A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0006082	anal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018515	squamous cell carcinoma of rectum		A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.
http://purl.obolibrary.org/obo/MONDO_0006085	angiolipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.
http://purl.obolibrary.org/obo/MONDO_0006086	angiomyxoma	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0006087	appendix adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006028	cecum adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the vermiform appendix.
http://purl.obolibrary.org/obo/MONDO_0006088	appendix adenoma	http://purl.obolibrary.org/obo/MONDO_0018511	epithelial tumor of the appendix		A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe.
http://purl.obolibrary.org/obo/MONDO_0006090	appendix hyperplastic polyp	http://purl.obolibrary.org/obo/MONDO_0056798	disorder of appendix		A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.
http://purl.obolibrary.org/obo/MONDO_0006091	appendix neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade		A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0006092	appendix villous adenoma	http://purl.obolibrary.org/obo/MONDO_0006088	appendix adenoma		An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.
http://purl.obolibrary.org/obo/MONDO_0006093	ascending colon neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0006155	colon neuroendocrine tumor G1		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0006094	Askin tumor	http://purl.obolibrary.org/obo/MONDO_0018271	peripheral primitive neuroectodermal tumor		A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.
http://purl.obolibrary.org/obo/MONDO_0006095	atypical carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0005369	carcinoid tumor		A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.
http://purl.obolibrary.org/obo/MONDO_0006096	atypical endometrial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.
http://purl.obolibrary.org/obo/MONDO_0006097	atypical lipomatous tumor	http://purl.obolibrary.org/obo/MONDO_0021354	tumor of adipose tissue		An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.
http://purl.obolibrary.org/obo/MONDO_0006098	atypical lobular breast hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.
http://purl.obolibrary.org/obo/MONDO_0006102	basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.
http://purl.obolibrary.org/obo/MONDO_0006103	benign adrenal gland pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system		A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral.
http://purl.obolibrary.org/obo/MONDO_0006104	benign carotid body paraganglioma	http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system		A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.
http://purl.obolibrary.org/obo/MONDO_0006105	benign conjunctival neoplasm	http://purl.obolibrary.org/obo/MONDO_0020204	conjunctival tumor		Abnormal growth of the cells of the conjunctiva without malignant characteristics.
http://purl.obolibrary.org/obo/MONDO_0006106	benign smooth muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0006975	smooth muscle tumor		A benign mesenchymal neoplasm arising from smooth muscle tissue.
http://purl.obolibrary.org/obo/MONDO_0006107	benign thyroid gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0015074	thyroid tumor		A benign neoplasm arising from the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0006108	bile duct adenoma	http://purl.obolibrary.org/obo/MONDO_0021662	bile duct neoplasm		A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.
http://purl.obolibrary.org/obo/MONDO_0006109	malignant biphasic mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma		A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.
http://purl.obolibrary.org/obo/MONDO_0006111	bladder flat intraepithelial lesion	http://purl.obolibrary.org/obo/MONDO_0004987	urinary bladder neoplasm		A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.
http://purl.obolibrary.org/obo/MONDO_0006112	bladder inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0015798	inflammatory myofibroblastic tumor		A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.
http://purl.obolibrary.org/obo/MONDO_0006115	blast phase chronic myelogenous leukemia, BCR-ABL1 positive	http://purl.obolibrary.org/obo/MONDO_0011996	chronic myeloid leukemia		An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).
http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006117	breast diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.
http://purl.obolibrary.org/obo/MONDO_0006118	breast fibrosis	http://purl.obolibrary.org/obo/MONDO_0003724	non-proliferative fibrocystic change of the breast		Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.
http://purl.obolibrary.org/obo/MONDO_0006119	breast mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0007650	MALT lymphoma		An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor.
http://purl.obolibrary.org/obo/MONDO_0006120	C-cell hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).
http://purl.obolibrary.org/obo/MONDO_0006121	calcifying fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.
http://purl.obolibrary.org/obo/MONDO_0006122	calcifying nested epithelial stromal tumor of the liver	http://purl.obolibrary.org/obo/MONDO_0002691	liver cancer		A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.
http://purl.obolibrary.org/obo/MONDO_0006123	cardiac rhabdomyoma	http://purl.obolibrary.org/obo/MONDO_0036688	rhabdomyoma		A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.
http://purl.obolibrary.org/obo/MONDO_0006126	cecum neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0006155	colon neuroendocrine tumor G1		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0006128	central nervous system anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020633	anaplastic cancer		An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.
http://purl.obolibrary.org/obo/MONDO_0006130	central nervous system neoplasm	http://purl.obolibrary.org/obo/MONDO_0021248	nervous system neoplasm		A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.
http://purl.obolibrary.org/obo/MONDO_0006131	cerebellar liponeurocytoma	http://purl.obolibrary.org/obo/MONDO_0002913	cerebellar neoplasm		A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0006132	cervical adenoid basal carcinoma	http://purl.obolibrary.org/obo/MONDO_0005131	cervical carcinoma		A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.
http://purl.obolibrary.org/obo/MONDO_0006133	cervical adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0005153	cervical adenocarcinoma		A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.
http://purl.obolibrary.org/obo/MONDO_0006134	cervical adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006143	cervical squamous cell carcinoma		An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0006135	cervical clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005153	cervical adenocarcinoma		A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).
http://purl.obolibrary.org/obo/MONDO_0006137	cervical intraepithelial neoplasia grade 2/3	http://purl.obolibrary.org/obo/MONDO_0022394	cervical intraepithelial neoplasia		A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.
http://purl.obolibrary.org/obo/MONDO_0006138	cervical large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005131	cervical carcinoma		A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.
http://purl.obolibrary.org/obo/MONDO_0006139	cervical metaplasia	http://purl.obolibrary.org/obo/MONDO_0002256	cervix disorder		Metaplastic changes in the cervical glandular or squamous epithelium.
http://purl.obolibrary.org/obo/MONDO_0006140	cervical mucinous adenocarcinoma, minimal deviation variant	http://purl.obolibrary.org/obo/MONDO_0002742	cervical mucinous adenocarcinoma		A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.
http://purl.obolibrary.org/obo/MONDO_0006141	cervical villoglandular adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003204	villous adenocarcinoma		A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.
http://purl.obolibrary.org/obo/MONDO_0006142	cervical small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005131	cervical carcinoma		A small cell carcinoma arising from the cervix.
http://purl.obolibrary.org/obo/MONDO_0006143	cervical squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005131	cervical carcinoma		A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.
http://purl.obolibrary.org/obo/MONDO_0006144	cervical Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0006058	Wilms tumor		An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.
http://purl.obolibrary.org/obo/MONDO_0006145	chondroid chordoma	http://purl.obolibrary.org/obo/MONDO_0008978	chordoma		A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.
http://purl.obolibrary.org/obo/MONDO_0006146	chondroid hamartoma	http://purl.obolibrary.org/obo/MONDO_0006499	hamartoma		A hamartoma that is characterized by the presence of chondroid elements.
http://purl.obolibrary.org/obo/MONDO_0006149	clear cell papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0021091	papillary cystadenoma		A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.
http://purl.obolibrary.org/obo/MONDO_0006150	colon Burkitt lymphoma	http://purl.obolibrary.org/obo/MONDO_0023113	familial colorectal cancer		A rare Burkitt lymphoma that arises from the colon.
http://purl.obolibrary.org/obo/MONDO_0006151	colon dysplasia	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.
http://purl.obolibrary.org/obo/MONDO_0006152	colon inflammatory polyp	http://purl.obolibrary.org/obo/MONDO_0005401	colonic neoplasm		A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.
http://purl.obolibrary.org/obo/MONDO_0006153	colon juvenile polyp	http://purl.obolibrary.org/obo/MONDO_0006161	colorectal juvenile polyp		A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.
http://purl.obolibrary.org/obo/MONDO_0006154	colon mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0002035	colon lymphoma		An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.
http://purl.obolibrary.org/obo/MONDO_0006155	colon neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0015067	neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0006156	colon sessile serrated adenoma/polyp	http://purl.obolibrary.org/obo/MONDO_0006164	colorectal sessile serrated adenoma/polyp		A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability.
http://purl.obolibrary.org/obo/MONDO_0006157	colorectal adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006165	colorectal squamous cell carcinoma		An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.
http://purl.obolibrary.org/obo/MONDO_0006158	colorectal diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0024656	colorectal lymphoma		A diffuse large B-cell lymphoma that arises from the colon or rectum.
http://purl.obolibrary.org/obo/MONDO_0006159	colorectal gastrointestinal stromal tumor	http://purl.obolibrary.org/obo/MONDO_0005335	colorectal neoplasm		A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0006160	colorectal hamartoma	http://purl.obolibrary.org/obo/MONDO_0006231	gastrointestinal hamartoma		A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.
http://purl.obolibrary.org/obo/MONDO_0004226	diffuse intraductal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021098	papillomatosis		
http://purl.obolibrary.org/obo/MONDO_0004254	focal intraductal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021098	papillomatosis		
http://purl.obolibrary.org/obo/MONDO_0004466	neuronitis	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0004923	chronic inflammation of lacrimal passage	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		
http://purl.obolibrary.org/obo/MONDO_0002644	idiopathic granulomatous myositis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0003453	conjunctival intraepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0020204	conjunctival tumor		
http://purl.obolibrary.org/obo/MONDO_0004889	total central choroidal atrophy	http://purl.obolibrary.org/obo/MONDO_0010557	choroideremia		
http://purl.obolibrary.org/obo/MONDO_0004890	partial central choroid dystrophy	http://purl.obolibrary.org/obo/MONDO_0008982	central areolar choroidal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0003653	stork bite	http://purl.obolibrary.org/obo/MONDO_0016231	capillary malformation		
http://purl.obolibrary.org/obo/MONDO_0004852	gonococcal keratitis	http://purl.obolibrary.org/obo/MONDO_0023865	corneal infection		
http://purl.obolibrary.org/obo/MONDO_0004759	zoophilia	http://purl.obolibrary.org/obo/MONDO_0000596	paraphilic disorder		
http://purl.obolibrary.org/obo/MONDO_0004680	primary thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0000602	autoimmune disorder of blood		
http://purl.obolibrary.org/obo/MONDO_0003956	Baastrup syndrome	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		
http://purl.obolibrary.org/obo/MONDO_0004940	acute female pelvic peritonitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0004628	gastroduodenitis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		
http://purl.obolibrary.org/obo/MONDO_0005677	Rickettsia conorii infectious disease	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		
http://purl.obolibrary.org/obo/MONDO_0004170	nodular episcleritis	http://purl.obolibrary.org/obo/MONDO_0001269	scleral disorder		
http://purl.obolibrary.org/obo/MONDO_0004687	severe nonproliferative diabetic retinopathy	http://purl.obolibrary.org/obo/MONDO_0001661	background diabetic retinopathy		
http://purl.obolibrary.org/obo/MONDO_0004055	acute inflammation of lacrimal passage	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0004808	benign mammary dysplasia	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		
http://purl.obolibrary.org/obo/MONDO_0004017	pineal region immature teratoma	http://purl.obolibrary.org/obo/MONDO_0024746	immature teratoma		
http://purl.obolibrary.org/obo/MONDO_0002961	large cell acanthoma	http://purl.obolibrary.org/obo/MONDO_0002093	acanthoma		
http://purl.obolibrary.org/obo/MONDO_0004706	discoid lupus erythematosus of eyelid	http://purl.obolibrary.org/obo/MONDO_0002137	noninfectious dermatoses of eyelid		
http://purl.obolibrary.org/obo/MONDO_0004718	xeroderma of eyelid	http://purl.obolibrary.org/obo/MONDO_0002137	noninfectious dermatoses of eyelid		
http://purl.obolibrary.org/obo/MONDO_0003307	multiple mucosal neuroma	http://purl.obolibrary.org/obo/MONDO_0002173	neuroma		
http://purl.obolibrary.org/obo/MONDO_0004904	toxic maculopathy	http://purl.obolibrary.org/obo/MONDO_0002175	degeneration of macula and posterior pole		
http://purl.obolibrary.org/obo/MONDO_0004764	fibular collateral ligament bursitis	http://purl.obolibrary.org/obo/MONDO_0002183	enthesopathy		
http://purl.obolibrary.org/obo/MONDO_0004314	malignant cutaneous granular cell skin tumor	http://purl.obolibrary.org/obo/MONDO_0003363	malignant dermis tumor		
http://purl.obolibrary.org/obo/MONDO_0004348	retinal telangiectasia	http://purl.obolibrary.org/obo/MONDO_0002311	retinal vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0004811	simple chronic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0002314	chronic conjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0003567	bilateral hypoactive labyrinth	http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder		
http://purl.obolibrary.org/obo/MONDO_0004801	unilateral hypoactive labyrinth	http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder		
http://purl.obolibrary.org/obo/MONDO_0004840	non-congenital cyst of kidney	http://purl.obolibrary.org/obo/MONDO_0002473	cystic kidney disease		
http://purl.obolibrary.org/obo/MONDO_0003706	adult brainstem astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003173	brain stem astrocytic neoplasm		
http://purl.obolibrary.org/obo/MONDO_0004320	adult infiltrating astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002503	adult astrocytic tumor		
http://purl.obolibrary.org/obo/MONDO_0003531	papillary eccrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0024240	eccrine carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004469	pseudovascular skin squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005056	keratinizing squamous cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004134	benign dermal neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0002531	skin neoplasm		
http://purl.obolibrary.org/obo/MONDO_0002552	vascular myelopathy	http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder		
http://purl.obolibrary.org/obo/MONDO_0002551	c-P angle neurinoma	http://purl.obolibrary.org/obo/MONDO_0002553	cerebellopontine angle tumor		
http://purl.obolibrary.org/obo/MONDO_0004900	peripheral vertigo	http://purl.obolibrary.org/obo/MONDO_0002643	vestibular disorder		
http://purl.obolibrary.org/obo/MONDO_0004039	papillary extrahepatic bile duct adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002665	extrahepatic bile duct adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0002717	spinal cord intramedullary teratoma	http://purl.obolibrary.org/obo/MONDO_0021506	benign neoplasm of spinal cord		
http://purl.obolibrary.org/obo/MONDO_0002750	bladder colloid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002751	bladder adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0003938	bladder colonic type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002751	bladder adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0004458	bladder mixed adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002751	bladder adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0003714	bladder urachal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003715	bladder urachal carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004851	toxic myocarditis	http://purl.obolibrary.org/obo/MONDO_0002815	acute myocarditis		
http://purl.obolibrary.org/obo/MONDO_0003668	extragonadal seminoma	http://purl.obolibrary.org/obo/MONDO_0003113	extragonadal germ cell cancer		
http://purl.obolibrary.org/obo/MONDO_0004338	retinal cell cancer	http://purl.obolibrary.org/obo/MONDO_0024341	retinal cell neoplasm		
http://purl.obolibrary.org/obo/MONDO_0003082	filamentary keratitis	http://purl.obolibrary.org/obo/MONDO_0003085	keratitis		
http://purl.obolibrary.org/obo/MONDO_0004903	deep keratitis	http://purl.obolibrary.org/obo/MONDO_0003085	keratitis		
http://purl.obolibrary.org/obo/MONDO_0003097	childhood mediastinal neurogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		
http://purl.obolibrary.org/obo/MONDO_0003712	angiokeratoma of mibelli	http://purl.obolibrary.org/obo/MONDO_0003143	angiokeratoma		
http://purl.obolibrary.org/obo/MONDO_0003713	angiokeratoma circumscriptum	http://purl.obolibrary.org/obo/MONDO_0003143	angiokeratoma		
http://purl.obolibrary.org/obo/MONDO_0004920	hydrocele	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0003152	adult brainstem gliosarcoma	http://purl.obolibrary.org/obo/MONDO_0003153	adult brainstem glioma		
http://purl.obolibrary.org/obo/MONDO_0003705	adult brainstem mixed glioma	http://purl.obolibrary.org/obo/MONDO_0003153	adult brainstem glioma		
http://purl.obolibrary.org/obo/MONDO_0003163	cauda equina intradural extramedullary astrocytoma	http://purl.obolibrary.org/obo/MONDO_0019781	astrocytoma (excluding glioblastoma)		
http://purl.obolibrary.org/obo/MONDO_0004269	breast cystic hypersecretory carcinoma	http://purl.obolibrary.org/obo/MONDO_0003208	breast secretory carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004224	chronic metabolic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0003335	chronic polyneuropathy		
http://purl.obolibrary.org/obo/MONDO_0003542	dental pulp calcification	http://purl.obolibrary.org/obo/MONDO_0003394	dental pulp disorder		
http://purl.obolibrary.org/obo/MONDO_0004560	follicular infundibulum tumor	http://purl.obolibrary.org/obo/MONDO_0003413	hair follicle neoplasm		
http://purl.obolibrary.org/obo/MONDO_0003417	internuclear ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		
http://purl.obolibrary.org/obo/MONDO_0004753	mechanical strabismus	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		
http://purl.obolibrary.org/obo/MONDO_0004894	cyclotropia	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		
http://purl.obolibrary.org/obo/MONDO_0004899	monofixation syndrome	http://purl.obolibrary.org/obo/MONDO_0003432	strabismus		
http://purl.obolibrary.org/obo/MONDO_0004299	infiltrating bladder lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0003647	atrophic flaccid tympanic membrane	http://purl.obolibrary.org/obo/MONDO_0003648	tympanic membrane disorder		
http://purl.obolibrary.org/obo/MONDO_0003697	non-invasive verrucous carcinoma of the penis	http://purl.obolibrary.org/obo/MONDO_0003698	penis verrucous carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004051	aleukemic monocytic leukemia cutis	http://purl.obolibrary.org/obo/MONDO_0007896	acute monocytic leukemia		
http://purl.obolibrary.org/obo/MONDO_0003734	adult central nervous system immature teratoma	http://purl.obolibrary.org/obo/MONDO_0003735	central nervous system immature teratoma		
http://purl.obolibrary.org/obo/MONDO_0004016	pineal region mature teratoma	http://purl.obolibrary.org/obo/MONDO_0004015	pineal region teratoma		
http://purl.obolibrary.org/obo/MONDO_0004856	rosacea conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0003799	conjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0003830	type 1 papillary adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003829	chromophil adenoma of the kidney		
http://purl.obolibrary.org/obo/MONDO_0003831	type 2 papillary adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003829	chromophil adenoma of the kidney		
http://purl.obolibrary.org/obo/MONDO_0004364	choroid necrotic melanoma	http://purl.obolibrary.org/obo/MONDO_0004365	necrotic uveal melanoma		
http://purl.obolibrary.org/obo/MONDO_0004415	lipid-cell variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004416	plasmacytoid variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004417	nested variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004418	microcystic variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004419	lymphoma-like variant infiltrating bladder urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003890	infiltrating bladder urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004603	collagenopathy	http://purl.obolibrary.org/obo/MONDO_0003900	connective tissue disorder		
http://purl.obolibrary.org/obo/MONDO_0004902	interstitial keratitis	http://purl.obolibrary.org/obo/MONDO_0004903	deep keratitis		
http://purl.obolibrary.org/obo/MONDO_0004937	hypervitaminosis D	http://purl.obolibrary.org/obo/MONDO_0003916	overnutrition		
http://purl.obolibrary.org/obo/MONDO_0004280	asymmetric motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0004004	motor nerve neuritis		
http://purl.obolibrary.org/obo/MONDO_0004054	acute canaliculitis	http://purl.obolibrary.org/obo/MONDO_0004055	acute inflammation of lacrimal passage		
http://purl.obolibrary.org/obo/MONDO_0004760	urethral false passage	http://purl.obolibrary.org/obo/MONDO_0004184	urethral disorder		
http://purl.obolibrary.org/obo/MONDO_0004909	urethral gland abscess	http://purl.obolibrary.org/obo/MONDO_0004184	urethral disorder		
http://purl.obolibrary.org/obo/MONDO_0004516	bulbomembranous urethral cancer	http://purl.obolibrary.org/obo/MONDO_0004197	male urethral cancer		
http://purl.obolibrary.org/obo/MONDO_0004242	active peptic ulcer disease	http://purl.obolibrary.org/obo/MONDO_0004247	peptic ulcer disease		
http://purl.obolibrary.org/obo/MONDO_0004264	acute gonococcal endometritis	http://purl.obolibrary.org/obo/MONDO_0004265	acute endometritis		
http://purl.obolibrary.org/obo/MONDO_0004853	gonococcal endophthalmia	http://purl.obolibrary.org/obo/MONDO_0016047	endophthalmitis		
http://purl.obolibrary.org/obo/MONDO_0004878	female breast upper-outer quadrant cancer	http://purl.obolibrary.org/obo/MONDO_0004379	female breast carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004571	intestinal impaction	http://purl.obolibrary.org/obo/MONDO_0004565	intestinal obstruction		
http://purl.obolibrary.org/obo/MONDO_0004918	central corneal ulcer	http://purl.obolibrary.org/obo/MONDO_0004577	corneal ulcer		
http://purl.obolibrary.org/obo/MONDO_0004578	flat retinoschisis	http://purl.obolibrary.org/obo/MONDO_0004579	retinoschisis		
http://purl.obolibrary.org/obo/MONDO_0004803	disseminated eosinophilic collagen disease	http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome		
http://purl.obolibrary.org/obo/MONDO_0004657	disseminated chorioretinitis	http://purl.obolibrary.org/obo/MONDO_0004674	chorioretinitis		
http://purl.obolibrary.org/obo/MONDO_0004929	constant exophthalmos	http://purl.obolibrary.org/obo/MONDO_0004751	disease of orbital part of eye adnexa		
http://purl.obolibrary.org/obo/MONDO_0004794	exposure keratitis	http://purl.obolibrary.org/obo/MONDO_0004768	keratoconjunctivitis		
http://purl.obolibrary.org/obo/MONDO_0004772	glaucomatocyclitic crisis	http://purl.obolibrary.org/obo/MONDO_0004773	iridocyclitis		
http://purl.obolibrary.org/obo/MONDO_0004775	lens-induced iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0004773	iridocyclitis		
http://purl.obolibrary.org/obo/MONDO_0004780	strictly posterior acute myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0004781	acute myocardial infarction		
http://purl.obolibrary.org/obo/MONDO_0004799	ulcerative blepharitis	http://purl.obolibrary.org/obo/MONDO_0004785	blepharitis		
http://purl.obolibrary.org/obo/MONDO_0004862	vitreous abscess	http://purl.obolibrary.org/obo/MONDO_0005227	abscess		
http://purl.obolibrary.org/obo/MONDO_0004871	perianal hematoma	http://purl.obolibrary.org/obo/MONDO_0004872	hemorrhoid		
http://purl.obolibrary.org/obo/MONDO_0004888	partial circumpapillary choroid dystrophy	http://purl.obolibrary.org/obo/MONDO_0004883	hereditary choroidal atrophy		
http://purl.obolibrary.org/obo/MONDO_0004898	total circumpapillary dystrophy of choroid	http://purl.obolibrary.org/obo/MONDO_0004883	hereditary choroidal atrophy		
http://purl.obolibrary.org/obo/MONDO_0004879	senile atrophy of choroid	http://purl.obolibrary.org/obo/MONDO_0004885	choroidal sclerosis		
http://purl.obolibrary.org/obo/MONDO_0004883	hereditary choroidal atrophy	http://purl.obolibrary.org/obo/MONDO_0004885	choroidal sclerosis		
http://purl.obolibrary.org/obo/MONDO_0004886	diffuse secondary choroid atrophy	http://purl.obolibrary.org/obo/MONDO_0004885	choroidal sclerosis		
http://purl.obolibrary.org/obo/MONDO_0004895	accommodative esotropia	http://purl.obolibrary.org/obo/MONDO_0004896	esotropia		
http://purl.obolibrary.org/obo/MONDO_0004913	alternating esotropia	http://purl.obolibrary.org/obo/MONDO_0004896	esotropia		
http://purl.obolibrary.org/obo/MONDO_0004931	residual stage corticosteroid-induced glaucoma	http://purl.obolibrary.org/obo/MONDO_0004930	steroid-induced glaucoma		
http://purl.obolibrary.org/obo/MONDO_0002844	lymphocytic gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		
http://purl.obolibrary.org/obo/MONDO_0004932	null-cell leukemia	http://purl.obolibrary.org/obo/MONDO_0004967	acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0004622	chronic intestinal vascular insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder		
http://purl.obolibrary.org/obo/MONDO_0002821	trabecular follicular adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005034	thyroid gland follicular carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004744	borderline glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		
http://purl.obolibrary.org/obo/MONDO_0004930	steroid-induced glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		
http://purl.obolibrary.org/obo/MONDO_0004600	monocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0005059	leukemia		
http://purl.obolibrary.org/obo/MONDO_0003672	posterior myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		
http://purl.obolibrary.org/obo/MONDO_0003677	lateral myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		
http://purl.obolibrary.org/obo/MONDO_0003679	anteroseptal myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		
http://purl.obolibrary.org/obo/MONDO_0004618	diplegia of upper limb	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0004605	chronic ulcer of skin	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0004141	melanomatosis	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		
http://purl.obolibrary.org/obo/MONDO_0004819	indolent plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0005235	smoldering plasma cell myeloma		
http://purl.obolibrary.org/obo/MONDO_0002674	stricture or kinking of ureter	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0004838	orthostatic proteinuria	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0004728	diabetic macular edema	http://purl.obolibrary.org/obo/MONDO_0005266	diabetic retinopathy		
http://purl.obolibrary.org/obo/MONDO_0002929	pulmonary immaturity	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		
http://purl.obolibrary.org/obo/MONDO_0005591	pit and fissure surface dental caries	http://purl.obolibrary.org/obo/MONDO_0005276	dental caries		
http://purl.obolibrary.org/obo/MONDO_0005592	smooth surface dental caries	http://purl.obolibrary.org/obo/MONDO_0005276	dental caries		
http://purl.obolibrary.org/obo/MONDO_0004594	puerperal pulmonary embolism	http://purl.obolibrary.org/obo/MONDO_0005279	pulmonary embolism		
http://purl.obolibrary.org/obo/MONDO_0004859	hydrops of gallbladder	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		
http://purl.obolibrary.org/obo/MONDO_0004037	retinal edema	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		
http://purl.obolibrary.org/obo/MONDO_0004861	ophthalmia nodosa	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0002942	sebaceous basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0002947	adamantinoid basal cell epithelioma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0002952	follicular basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0002956	skin cystic basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0002957	sarcomatoid basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006406	sarcomatoid carcinoma		
http://purl.obolibrary.org/obo/MONDO_0002958	signet ring basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0003290	simple partial epilepsy	http://purl.obolibrary.org/obo/MONDO_0005384	focal epilepsy		
http://purl.obolibrary.org/obo/MONDO_0003271	iodine hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0005420	hypothyroidism		
http://purl.obolibrary.org/obo/MONDO_0004175	mucin-rich endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006192	endometrial endometrioid adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0004630	substance-induced psychosis	http://purl.obolibrary.org/obo/MONDO_0005485	psychotic disorder		
http://purl.obolibrary.org/obo/MONDO_0003282	ovarian cyst	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		
http://purl.obolibrary.org/obo/MONDO_0005433	alcohol withdrawal	http://purl.obolibrary.org/obo/MONDO_0005567	substance withdrawal syndrome		
http://purl.obolibrary.org/obo/MONDO_0002901	blood group incompatibility	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		
http://purl.obolibrary.org/obo/MONDO_0005821	late congenital syphilis	http://purl.obolibrary.org/obo/MONDO_0005714	congenital syphilis		
http://purl.obolibrary.org/obo/MONDO_0002931	conjunctivochalasis	http://purl.obolibrary.org/obo/MONDO_0006170	conjunctival disorder		
http://purl.obolibrary.org/obo/MONDO_0004149	gallbladder pleomorphic giant cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006215	gallbladder adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0004205	lymphohistiocytoid mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006407	sarcomatoid mesothelioma		
http://purl.obolibrary.org/obo/MONDO_0002590	combined thymoma	http://purl.obolibrary.org/obo/MONDO_0006456	thymoma		
http://purl.obolibrary.org/obo/MONDO_0003927	posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0006486	uveal melanoma		
http://purl.obolibrary.org/obo/MONDO_0003172	glomeruloid hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		
http://purl.obolibrary.org/obo/MONDO_0004874	ganglion or cyst of synovium/tendon/bursa	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		
http://purl.obolibrary.org/obo/MONDO_0004644	subacute monocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0007896	acute monocytic leukemia		
http://purl.obolibrary.org/obo/MONDO_0003465	fibrous synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0010434	synovial sarcoma		
http://purl.obolibrary.org/obo/MONDO_0003718	occlusion precerebral artery	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		
http://purl.obolibrary.org/obo/MONDO_0004863	purulent endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0016047	endophthalmitis		
http://purl.obolibrary.org/obo/MONDO_0004502	parapharyngeal meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		
http://purl.obolibrary.org/obo/MONDO_0003202	pituitary gland basophilic carcinoma	http://purl.obolibrary.org/obo/MONDO_0017582	pituitary adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0003941	classic variant of chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0017885	chromophobe renal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0003942	eosinophilic variant of chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0017885	chromophobe renal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004877	transient neonatal thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0024277	neonatal thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0005339	androgenetic alopecia	http://purl.obolibrary.org/obo/MONDO_0021208	endocrine alopecia		
http://purl.obolibrary.org/obo/MONDO_0004010	infiltrating renal pelvis/ureter urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0040678	infiltrating urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0004629	subacute delirium	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0003755	urinary tract non-invasive transitional cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0024337	urothelial neoplasm		
http://purl.obolibrary.org/obo/MONDO_0004686	lattice corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0003272	mixed epithelial stromal tumor	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		
http://purl.obolibrary.org/obo/MONDO_0003108	cervicomedullary junction neoplasm	http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm		
http://purl.obolibrary.org/obo/MONDO_0021103	obsolete collagen diseases				OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)
http://purl.obolibrary.org/obo/MONDO_0021145	obsolete disorder of genitourinary system				OBSOLETE. A disease that involves the genitourinary system.
http://purl.obolibrary.org/obo/MONDO_0024248	obsolete pityriasis				OBSOLETE. A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/FOODON_00002451	food transformation process				A process involving the physical transformation of a food source or food product into some derived organic material or food product
http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity				A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances.
http://purl.obolibrary.org/obo/CHEBI_50906	role				A role is particular behaviour which a material entity may exhibit.
http://purl.obolibrary.org/obo/MONDO_0007464	obsolete isolated distichiasis				OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.
http://purl.obolibrary.org/obo/MONDO_0007658	obsolete spitz nevus				OBSOLETE. A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.
http://purl.obolibrary.org/obo/MONDO_0007779	obsolete autosomal dominant Opitz G/BBB syndrome				OBSOLETE. Autosomal dominant form of Opitz G/BBB syndrome.
http://purl.obolibrary.org/obo/MONDO_0008347	obsolete idiopathic and/or familial pulmonary arterial hypertension				OBSOLETE. Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown.
http://purl.obolibrary.org/obo/MONDO_0008406	obsolete autosomal recessive Emery-Dreifuss muscular dystrophy				OBSOLETE. Autosomal recessive form of Emery-Dreifuss muscular dystrophy.
http://purl.obolibrary.org/obo/MONDO_0008597	obsolete trichorhinophalangeal syndrome, type III				OBSOLETE. A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.
http://purl.obolibrary.org/obo/MONDO_0015112	obsolete rare pancreatic disease				OBSOLETE. Any of the forms of pancreas disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015144	obsolete brain inflammatory disease				OBSOLETE. An inflammatory disease involving a pathogenic inflammatory response in the brain.
http://purl.obolibrary.org/obo/MONDO_0015187	obsolete rare inflammatory bowel disease				OBSOLETE. Rare inflammatory bowel disease.
http://purl.obolibrary.org/obo/MONDO_0015207	obsolete non-syndromic esophageal malformation				OBSOLETE. A esophageal malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015208	obsolete syndromic esophageal malformation				OBSOLETE. A esophageal malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015209	obsolete non-syndromic gastroduodenal malformation				OBSOLETE. A gastroduodenal malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015210	obsolete syndromic gastroduodenal malformation				OBSOLETE. A gastroduodenal malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015211	obsolete non-syndromic intestinal malformation				OBSOLETE. A intestinal malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015212	obsolete syndromic intestinal malformation				OBSOLETE. A intestinal malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015216	obsolete syndromic diaphragmatic or abdominal wall malformation				OBSOLETE. A diaphragmatic or abdominal wall malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015221	obsolete non-syndromic respiratory or mediastinal malformation				OBSOLETE. A respiratory or mediastinal malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015222	obsolete syndromic respiratory or mediastinal malformation				OBSOLETE. A respiratory or mediastinal malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015223	obsolete rare anemia				OBSOLETE. Rare anemia.
http://purl.obolibrary.org/obo/MONDO_0015245	obsolete rare intestinal disease				OBSOLETE. Rare intestinal disease.
http://purl.obolibrary.org/obo/MONDO_0015365	obsolete autosomal dominant hereditary sensory and autonomic neuropathy				OBSOLETE. Autosomal dominant form of hereditary sensory and autonomic neuropathy.
http://purl.obolibrary.org/obo/MONDO_0015366	obsolete autosomal recessive hereditary sensory and autonomic neuropathy				OBSOLETE. Autosomal recessive form of hereditary sensory and autonomic neuropathy.
http://purl.obolibrary.org/obo/MONDO_0015460	obsolete adrenocortical carcinoma				OBSOLETE. A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.
http://purl.obolibrary.org/obo/MONDO_0015551	obsolete basal epidermolysis bullosa simplex				OBSOLETE. A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes.
http://purl.obolibrary.org/obo/MONDO_0015620	obsolete syndromic urogenital tract malformation				OBSOLETE. A urogenital tract malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015778	obsolete syndromic hypothyroidism				OBSOLETE. A hypothyroidism that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015822	obsolete acquired neutropenia				OBSOLETE. An instance of neutropenia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0015846	obsolete syndromic uterovaginal malformation				OBSOLETE. A uterovaginal malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015885	obsolete rare insulin-resistance syndrome				OBSOLETE. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.
http://purl.obolibrary.org/obo/MONDO_0015886	obsolete rare diabetes mellitus type 1				OBSOLETE. Any of the forms of type 1 diabetes mellitus that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015893	obsolete rare hypothyroidism				OBSOLETE. Any of the forms of hypothyroidism that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015894	obsolete rare hyperthyroidism				OBSOLETE. Any of the forms of hyperthyroidism that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015902	obsolete major hypertriglyceridemia				OBSOLETE. Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential.
http://purl.obolibrary.org/obo/MONDO_0015939	obsolete systemic autoimmune disease				OBSOLETE. An autoimmune form of systemic disease.
http://purl.obolibrary.org/obo/MONDO_0015957	obsolete rare genetic movement disorder				OBSOLETE. Rare genetic movement disorder.
http://purl.obolibrary.org/obo/MONDO_0015969	obsolete rare genetic thyroid disease				OBSOLETE. Rare genetic thyroid disease.
http://purl.obolibrary.org/obo/MONDO_0016072	obsolete anomaly of puberty or/and menstrual cycle of genetic origin				OBSOLETE. An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0016114	obsolete bulbospinal muscular atrophy of childhood				OBSOLETE. A bulbospinal muscular atrophy that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0016170	obsolete chronic polyradiculoneuropathy				OBSOLETE. Chronic form of polyradiculoneuropathy.
http://purl.obolibrary.org/obo/MONDO_0016224	obsolete autosomal dominant proximal spinal muscular atrophy				OBSOLETE. Autosomal dominant form of proximal spinal muscular atrophy.
http://purl.obolibrary.org/obo/MONDO_0016513	obsolete alpha-thalassemia-related diseases				OBSOLETE. This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*
http://purl.obolibrary.org/obo/MONDO_0016518	obsolete isolated punctate palmoplantar keratoderma				OBSOLETE. A punctate palmoplantar keratoderma that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0016524	obsolete congenital vascular bone syndrome				OBSOLETE. An alteration in limb growth caused by congenital vascular malformations in childhood.
http://purl.obolibrary.org/obo/MONDO_0016631	obsolete hemorrhagic disorder due to an acquired platelet anomaly				OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth.
http://purl.obolibrary.org/obo/MONDO_0016797	obsolete multiple mitochondrial DNA deletion syndrome				OBSOLETE. A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal.
http://purl.obolibrary.org/obo/MONDO_0017059	obsolete neural tube closure defect				OBSOLETE. A disease that has its basis in the disruption of neural tube closure.
http://purl.obolibrary.org/obo/MONDO_0017234	obsolete inherited prion disease				OBSOLETE. An instance of prion disease that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0017414	obsolete rare nevus				OBSOLETE. Rare nevus.
http://purl.obolibrary.org/obo/MONDO_0017820	obsolete obsolete disease with Cushing syndrome as a major feature				OBSOLETE. A disease in which Cushing syndrome is a major feature.
http://purl.obolibrary.org/obo/MONDO_0017922	obsolete deafness-onychodystrophy syndrome				OBSOLETE. Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.
http://purl.obolibrary.org/obo/MONDO_0018385	obsolete osteochondrosis of genetic origin				OBSOLETE. An instance of osteochondrosis that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018404	obsolete rare genetic male infertility				OBSOLETE. Rare genetic male infertility.
http://purl.obolibrary.org/obo/MONDO_0018557	obsolete rare genetic autonomic nervous system disorder				OBSOLETE. Rare genetic autonomic nervous system disease.
http://purl.obolibrary.org/obo/MONDO_0018609	obsolete syndromic hereditary optic neuropathy				OBSOLETE. A hereditary optic neuropathy that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0019045	obsolete rare sleep disorder				OBSOLETE. A rare form of sleep disorder.
http://purl.obolibrary.org/obo/MONDO_0019059	obsolete rare parkinsonian disorder				OBSOLETE. Rare parkinsonian disorder.
http://purl.obolibrary.org/obo/MONDO_0019099	obsolete rare soft tissue tumor				OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0019116	obsolete catecholamine-producing tumor				OBSOLETE. Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas).
http://purl.obolibrary.org/obo/MONDO_0019126	obsolete intractable diarrhea of infancy				OBSOLETE. Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterized by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterized by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.
http://purl.obolibrary.org/obo/MONDO_0019176	obsolete trichorhinophalangeal syndrome type I or III				OBSOLETE. Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.
http://purl.obolibrary.org/obo/MONDO_0019213	obsolete cerebral organic aciduria				OBSOLETE. A inherited organic acidemia that involves the brain.
http://purl.obolibrary.org/obo/MONDO_0019286	obsolete sebaceous gland anomaly				OBSOLETE. A epidermal appendage anomaly that involves the sebaceous gland.
http://purl.obolibrary.org/obo/MONDO_0019298	obsolete rare urticaria				OBSOLETE. Rare urticaria.
http://purl.obolibrary.org/obo/MONDO_0019520	obsolete syndromic lymphedema				OBSOLETE. A lymphedema that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0019601	obsolete autosomal recessive axonal hereditary motor and sensory neuropathy				OBSOLETE. Autosomal recessive form of axonal hereditary motor and sensory neuropathy.
http://purl.obolibrary.org/obo/MONDO_0019965	obsolete rare benign ovarian tumor				OBSOLETE. Any of the forms of ovarian benign neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020032	obsolete rare urinary tract tumor				OBSOLETE. Rare urinary system benign neoplasm.
http://purl.obolibrary.org/obo/MONDO_0020037	obsolete rare gynecological tumor				OBSOLETE. Rare female reproductive system neoplasm.
http://purl.obolibrary.org/obo/MONDO_0020093	obsolete autosomal dominant isolated diffuse palmoplantar keratoderma				OBSOLETE. Autosomal dominant form of isolated diffuse palmoplantar keratoderma.
http://purl.obolibrary.org/obo/MONDO_0020095	obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature				OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature.
http://purl.obolibrary.org/obo/MONDO_0020176	obsolete palpebral sebaceous gland tumor				OBSOLETE. A neoplasm (disease) that involves the sebaceous gland of eyelid.
http://purl.obolibrary.org/obo/MONDO_0020178	obsolete palpebral lentiginosis				OBSOLETE. A lentigo that involves the skin of eyelid.
http://purl.obolibrary.org/obo/MONDO_0020208	obsolete syndromic myopia				OBSOLETE. A myopia (disease) that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0020211	obsolete syndromic keratoconus				OBSOLETE. A keratoconus (disease) that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0020240	obsolete syndromic retinitis pigmentosa				OBSOLETE. A retinitis pigmentosa that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0021037	obsolete genetic neurodegenerative disease with dementia				OBSOLETE. An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0019774	obsolete Holmes-Gang syndrome				OBSOLETE. Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).
http://purl.obolibrary.org/obo/MONDO_0019776	obsolete Juberg-Marsidi syndrome				OBSOLETE. Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).
http://purl.obolibrary.org/obo/MONDO_0019853	obsolete congenital hypothyroidism due to developmental anomaly				OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0020024	obsolete rare infertility				OBSOLETE. Rare infertility.
http://purl.obolibrary.org/obo/MONDO_0020151	obsolete rare palpebral disease				OBSOLETE. Any of the forms of eyelid disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020192	obsolete rare lacrimal system disease				OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020198	obsolete rare conjunctival disease				OBSOLETE. Rare conjunctival disease.
http://purl.obolibrary.org/obo/MONDO_0020216	obsolete secondary dysgenetic glaucoma				OBSOLETE. A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma.
http://purl.obolibrary.org/obo/MONDO_0020315	obsolete unclassified myelodysplastic syndrome				OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance.
http://purl.obolibrary.org/obo/MONDO_0020474	obsolete cheirospondyloenchondromatosis				OBSOLETE. Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0020537	obsolete occupational allergic alveolitis				OBSOLETE. Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise
http://purl.obolibrary.org/obo/MONDO_0021665	obsolete Refsum disease				OBSOLETE. A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.
http://purl.obolibrary.org/obo/MONDO_0024297	obsolete nutritional or metabolic disease				OBSOLETE. A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances.
http://purl.obolibrary.org/obo/MONDO_0025370	obsolete urogenital neoplasm				OBSOLETE. Tumors or cancer of the urogenital system in either the male or the female.
http://purl.obolibrary.org/obo/MONDO_0029001	obsolete chemically-induced disorder				OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides.
http://purl.obolibrary.org/obo/MONDO_0043005	obsolete genetic multiple congenital anomalies/dysmorphic syndrome				OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0043606	obsolete pathologic fracture				OBSOLETE. A traumatic break in an area of bone that has been weakened by another disease process.
http://purl.obolibrary.org/obo/MONDO_0043007	obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome				OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0042965	obsolete Machado-Joseph disease type 5				OBSOLETE. A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.
http://purl.obolibrary.org/obo/MONDO_0044219	obsolete blood group, duffy system				OBSOLETE. The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}).
http://purl.obolibrary.org/obo/MONDO_0044228	obsolete eegbqtl				OBSOLETE. Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}).
http://purl.obolibrary.org/obo/MONDO_0044236	obsolete hepatitis b vaccine, response to				OBSOLETE. More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}).
http://purl.obolibrary.org/obo/MONDO_0044240	obsolete musical perfect pitch				OBSOLETE. Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}).
http://purl.obolibrary.org/obo/MONDO_0044246	obsolete nystagmus, voluntary				OBSOLETE. Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}).
http://purl.obolibrary.org/obo/MONDO_0044248	obsolete thiourea tasting				OBSOLETE. The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}).
http://purl.obolibrary.org/obo/MONDO_0044255	obsolete skin/hair/eye pigmentation, variation in, 1				OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501).
http://purl.obolibrary.org/obo/MONDO_0044257	obsolete lutheran null				OBSOLETE. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported.
http://purl.obolibrary.org/obo/MONDO_0044259	obsolete skin/hair/eye pigmentation, variation in, 2				OBSOLETE. Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action.
http://purl.obolibrary.org/obo/MONDO_0044263	obsolete lutheran suppressor, X-linked				OBSOLETE. An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420.
http://purl.obolibrary.org/obo/MONDO_0044266	obsolete xm system				OBSOLETE. Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage.
http://purl.obolibrary.org/obo/MONDO_0044269	obsolete novelty seeking personality trait				OBSOLETE. Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related.
http://purl.obolibrary.org/obo/MONDO_0044274	obsolete hemoglobin, high altitude adaptation				OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}).
http://purl.obolibrary.org/obo/MONDO_0044278	obsolete short sleeper				OBSOLETE. In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset.
http://purl.obolibrary.org/obo/MONDO_0044281	obsolete c3hex, ability to smell				OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}).
http://purl.obolibrary.org/obo/MONDO_0044282	obsolete blood group, vel system				OBSOLETE. The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}).
http://purl.obolibrary.org/obo/MONDO_0044284	obsolete blood group, gerbich system				OBSOLETE. The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}).
http://purl.obolibrary.org/obo/MONDO_0044331	obsolete genetic transient congenital hypothyroidism				OBSOLETE. An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0045028	obsolete radiation or chemically induced disorder				OBSOLETE. A disease or disorder that is induced by either chemical or radiation exposure.
http://purl.obolibrary.org/obo/MONDO_0100052	obsolete acetazolamide-responsive hereditary episodic ataxia				OBSOLETE. Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.
http://purl.obolibrary.org/obo/MONDO_0020842	obsolete medullary carcinoma				OBSOLETE. Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ.
http://purl.obolibrary.org/obo/MONDO_0000238	obsolete pestis minor				OBSOLETE. A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis.
http://purl.obolibrary.org/obo/MONDO_0000247	obsolete hemophagocytic lymphohistiocytosis				OBSOLETE. A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.
http://purl.obolibrary.org/obo/MONDO_0000275	obsolete monogenic disease				OBSOLETE. A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
http://purl.obolibrary.org/obo/MONDO_0000322	obsolete Carrion disease				OBSOLETE. A disease caused by infection with Bartonella bacilliformis.
http://purl.obolibrary.org/obo/MONDO_0000411	obsolete electroclinical syndrome				OBSOLETE. An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
http://purl.obolibrary.org/obo/MONDO_0000412	obsolete neonatal period electroclinical syndrome				OBSOLETE. An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.
http://purl.obolibrary.org/obo/MONDO_0000413	obsolete infancy electroclinical syndrome				OBSOLETE. An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
http://purl.obolibrary.org/obo/MONDO_0000414	obsolete childhood electroclinical syndrome				OBSOLETE. A electroclinical syndrome that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0000526	obsolete appendix carcinoid tumor				OBSOLETE. A carcinoid tumor (disease) that involves the vermiform appendix.
http://purl.obolibrary.org/obo/MONDO_0000601	obsolete autoimmune disorder of urogenital tract				OBSOLETE. A hypersensitivity reaction type II disease that involves the genitourinary system.
http://purl.obolibrary.org/obo/MONDO_0000606	obsolete gluten allergy				OBSOLETE. A allergy involving gluten.
http://purl.obolibrary.org/obo/MONDO_0000641	obsolete cerebellar medulloblastoma				OBSOLETE. A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
http://purl.obolibrary.org/obo/MONDO_0000651	obsolete thoracic disorder				OBSOLETE. A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma.
http://purl.obolibrary.org/obo/MONDO_0000746	obsolete inguinal hernia				OBSOLETE. The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region.
http://purl.obolibrary.org/obo/MONDO_0000747	obsolete umbilical hernia				OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.
http://purl.obolibrary.org/obo/MONDO_0000769	obsolete chicken egg allergy				OBSOLETE. An egg allergy triggered by Gallus gallus eggs.
http://purl.obolibrary.org/obo/MONDO_0000770	obsolete shellfish allergy				OBSOLETE. Allergic reaction to shellfish or shellfish products.
http://purl.obolibrary.org/obo/MONDO_0000772	obsolete pollen allergy				OBSOLETE. A allergy involving pollen.
http://purl.obolibrary.org/obo/MONDO_0000773	obsolete Timothy grass allergy				OBSOLETE. A allergy involving a Phleum pratense.
http://purl.obolibrary.org/obo/MONDO_0000776	obsolete metal allergy				OBSOLETE. A allergy involving a metal allergen.
http://purl.obolibrary.org/obo/MONDO_0000778	obsolete fruit allergy				OBSOLETE. A food allergy triggered by a plant fruit product.
http://purl.obolibrary.org/obo/MONDO_0000779	obsolete apple allergy				OBSOLETE. A allergy involving a Malus domestica.
http://purl.obolibrary.org/obo/MONDO_0000780	obsolete apricot allergy				OBSOLETE. A allergy involving a Prunus armeniaca.
http://purl.obolibrary.org/obo/MONDO_0000781	obsolete cherry allergy				OBSOLETE. A fruit allergy triggered by Prunus avium plant fruit food product.
http://purl.obolibrary.org/obo/MONDO_0000782	obsolete Indian plum allergy				OBSOLETE. A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.
http://purl.obolibrary.org/obo/MONDO_0000783	obsolete orange allergy				OBSOLETE. A fruit allergy triggered by Citrus sinensis plant fruit food product.
http://purl.obolibrary.org/obo/MONDO_0000784	obsolete melon allergy				OBSOLETE. A fruit allergy triggered by Cucumis melo plant fruit food product.
http://purl.obolibrary.org/obo/MONDO_0000785	obsolete peach allergy				OBSOLETE. A allergy involving a Prunus persica.
http://purl.obolibrary.org/obo/MONDO_0000786	obsolete plum allergy				OBSOLETE. A allergy involving a Prunus domestica.
http://purl.obolibrary.org/obo/MONDO_0000787	obsolete tomato allergy				OBSOLETE. A allergy involving a Solanum lycopersicum.
http://purl.obolibrary.org/obo/MONDO_0000788	obsolete fish allergy				OBSOLETE. A allergy involving fish.
http://purl.obolibrary.org/obo/MONDO_0000789	obsolete Atlantic cod allergy				OBSOLETE. A allergy involving a Gadus morhua.
http://purl.obolibrary.org/obo/MONDO_0000790	obsolete Atlantic salmon allergy				OBSOLETE. A allergy involving a Salmo salar.
http://purl.obolibrary.org/obo/MONDO_0000791	obsolete carp allergy				OBSOLETE. A allergy involving a Cyprinus carpio.
http://purl.obolibrary.org/obo/MONDO_0000793	obsolete rainbow trout allergy				OBSOLETE. A allergy involving a Oncorhynchus mykiss.
http://purl.obolibrary.org/obo/MONDO_0000794	obsolete beta-lactam allergy				OBSOLETE. A allergy involving a beta-lactam.
http://purl.obolibrary.org/obo/MONDO_0000795	obsolete penicillin allergy				OBSOLETE. An allergy to Penicillin.
http://purl.obolibrary.org/obo/MONDO_0000796	obsolete cow milk allergy				OBSOLETE. A allergy involving cow mile.
http://purl.obolibrary.org/obo/MONDO_0000797	obsolete goat milk allergy				OBSOLETE. A allergy involving goat milk.
http://purl.obolibrary.org/obo/MONDO_0000798	obsolete mollusc allergy				OBSOLETE. A allergic disease involving a mollusc food product.
http://purl.obolibrary.org/obo/MONDO_0000799	obsolete crustacean allergy				OBSOLETE. A allergic disease involving a crustacean food product.
http://purl.obolibrary.org/obo/MONDO_0000800	obsolete brown shrimp allergy				OBSOLETE. A allergic disease involving a brown shrimp.
http://purl.obolibrary.org/obo/MONDO_0000801	obsolete green mud crab allergy				OBSOLETE. A allergic disease involving a green mud crab.
http://purl.obolibrary.org/obo/MONDO_0000802	obsolete Indian prawn allergy				OBSOLETE. A allergic disease involving a Indian prawn.
http://purl.obolibrary.org/obo/MONDO_0000803	obsolete tiger prawn allergy				OBSOLETE. A allergy involving a Penaeus monodon.
http://purl.obolibrary.org/obo/MONDO_0000804	obsolete white shrimp allergy				OBSOLETE. A allergy involving a Litopenaeus schmitti.
http://purl.obolibrary.org/obo/MONDO_0000805	obsolete snail allergy				OBSOLETE. A allergic disease involving a snail food product.
http://purl.obolibrary.org/obo/MONDO_0000806	obsolete horned turban snail allergy				OBSOLETE. A allergy involving a Turbo cornutus.
http://purl.obolibrary.org/obo/MONDO_0000810	obsolete DMD-related dilated cardiomyopathy				OBSOLETE. A dilated cardiomyopathy that has material basis in mutations in the DMD gene.
http://purl.obolibrary.org/obo/MONDO_0000834	obsolete bone deterioration disease				OBSOLETE. A bone structure disease that results in change or damage of structure located in bone.
http://purl.obolibrary.org/obo/MONDO_0000839	obsolete congenital abnormality				OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.
http://purl.obolibrary.org/obo/MONDO_0000857	obsolete Charcot-Marie-Tooth disease type 7				OBSOLETE. A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.
http://purl.obolibrary.org/obo/MONDO_0000911	obsolete dilated cardiomyopathy 1T				OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene.
http://purl.obolibrary.org/obo/MONDO_0000991	obsolete left bundle branch block				OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed.
http://purl.obolibrary.org/obo/MONDO_0001026	obsolete bacterial infectious disease				OBSOLETE. A infectious disease involving the Bacteria.
http://purl.obolibrary.org/obo/MONDO_0001153	obsolete gender dysphoria				OBSOLETE. A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)
http://purl.obolibrary.org/obo/MONDO_0001278	obsolete adult respiratory distress syndrome				OBSOLETE. A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
http://purl.obolibrary.org/obo/MONDO_0001324	obsolete hyperandrogenism				OBSOLETE. A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction.
http://purl.obolibrary.org/obo/MONDO_0001362	obsolete leukocoria				OBSOLETE. An abnormal white reflection from the retina of the eye.
http://purl.obolibrary.org/obo/MONDO_0001424	obsolete sarcoid meningitis				OBSOLETE. Meningitis that arises from sarcoidosis.
http://purl.obolibrary.org/obo/MONDO_0001445	obsolete neurogenic bladder				OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy).
http://purl.obolibrary.org/obo/MONDO_0001500	obsolete gender identity disorder				OBSOLETE. A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery).
http://purl.obolibrary.org/obo/MONDO_0001693	obsolete ego-dystonic sexual orientation				OBSOLETE. A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.
http://purl.obolibrary.org/obo/MONDO_0001807	obsolete familial combined hyperlipidemia				OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1.
http://purl.obolibrary.org/obo/MONDO_0001946	obsolete hyperestrogenism				OBSOLETE. Abnormally high level of estrogen.
http://purl.obolibrary.org/obo/MONDO_0002063	obsolete breast papillomatosis				A benign breast neoplasm characterized by the proliferation of multiple papillomas.
http://purl.obolibrary.org/obo/MONDO_0002125	obsolete status epilepticus				OBSOLETE. A life-threatening situation in which the brain is in a continuous state of seizure.
http://purl.obolibrary.org/obo/MONDO_0002176	obsolete connective tissue cancer				OBSOLETE. A malignant neoplasm involving the connective tissue
http://purl.obolibrary.org/obo/MONDO_0002510	obsolete germ cell and embryonal cancer				OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus.
http://purl.obolibrary.org/obo/MONDO_0002767	obsolete protein C deficiency				OBSOLETE. A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism.
http://purl.obolibrary.org/obo/MONDO_0003043	obsolete extraskeletal mesenchymal chondrosarcoma				OBSOLETE. A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage.
http://purl.obolibrary.org/obo/MONDO_0003044	obsolete extraosseous chondrosarcoma				OBSOLETE. A chondrosarcoma that is located in exclusively soft tissue.
http://purl.obolibrary.org/obo/MONDO_0003160	obsolete sebaceous carcinoma				OBSOLETE. An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.
http://purl.obolibrary.org/obo/MONDO_0003527	obsolete Ferguson-Smith tumor				OBSOLETE. A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.
http://purl.obolibrary.org/obo/MONDO_0003605	obsolete adrenal neuroblastoma				OBSOLETE. A neuroblastoma arising from the adrenal gland.
http://purl.obolibrary.org/obo/MONDO_0003723	obsolete blunt duct adenosis of breast				OBSOLETE. Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia.
http://purl.obolibrary.org/obo/MONDO_0003998	obsolete vaginal tubular adenoma				OBSOLETE. An adenoma that arises from the vagina and is characterized by a tubular architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0004018	obsolete liver carcinoma				OBSOLETE. A carcinoma that involves the liver.
http://purl.obolibrary.org/obo/MONDO_0004391	obsolete adult extraosseous chondrosarcoma				OBSOLETE. A extraosseous chondrosarcoma that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0004476	obsolete thymus sarcomatoid carcinoma				OBSOLETE. A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.
http://purl.obolibrary.org/obo/MONDO_0004632	obsolete Hodgkin's granuloma				OBSOLETE. An obsolete term referring to Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0004742	obsolete primary cerebellar degeneration				OBSOLETE. A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
http://purl.obolibrary.org/obo/MONDO_0005014	obsolete dermatomyositis				OBSOLETE. Inflammation of the skin and muscle.
http://purl.obolibrary.org/obo/MONDO_0005042	obsolete head disorder				A disease involving the head.
http://purl.obolibrary.org/obo/MONDO_0005049	obsolete intracranial hemorrhage				OBSOLETE. Bleeding within the cranium.
http://purl.obolibrary.org/obo/MONDO_0005128	obsolete sensory system disease				OBSOLETE. A disease involving the sensory system.
http://purl.obolibrary.org/obo/MONDO_0005171	obsolete chronic myeloproliferative disorder				OBSOLETE. Chronic form of myeloproliferative neoplasm.
http://purl.obolibrary.org/obo/MONDO_0005190	obsolete macroglobulinemia				OBSOLETE. Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life.
http://purl.obolibrary.org/obo/MONDO_0005196	obsolete teratozoospermia				OBSOLETE. Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends
http://purl.obolibrary.org/obo/MONDO_0005251	obsolete pauciarticular juvenile rheumatoid arthritis				OBSOLETE. A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children.
http://purl.obolibrary.org/obo/MONDO_0005290	obsolete rhabdomyolysis				OBSOLETE. A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma.
http://purl.obolibrary.org/obo/MONDO_0005307	obsolete contracture				OBSOLETE. Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
http://purl.obolibrary.org/obo/MONDO_0005353	obsolete marijuana dependence				OBSOLETE. The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning.
http://purl.obolibrary.org/obo/MONDO_0005422	obsolete nodular sclerosis Hodgkin lymphoma				OBSOLETE. A distinct, highly heritable Hodgkin lymphoma subtype.
http://purl.obolibrary.org/obo/MONDO_0005482	obsolete molar-incisor hypomineralization				OBSOLETE. A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors
http://purl.obolibrary.org/obo/MONDO_0005569	obsolete cartilage disease				OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE).
http://purl.obolibrary.org/obo/MONDO_0005702	obsolete chromoblastomycosis				OBSOLETE. A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.
http://purl.obolibrary.org/obo/MONDO_0005741	obsolete egg allergy				OBSOLETE. Allergic reaction to eggs that is triggered by the immune system.
http://purl.obolibrary.org/obo/MONDO_0005849	obsolete milk allergic reaction				OBSOLETE. Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase.
http://purl.obolibrary.org/obo/MONDO_0005862	obsolete multiple chemical sensitivity				OBSOLETE. An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)
http://purl.obolibrary.org/obo/MONDO_0005902	obsolete peanut allergic reaction				OBSOLETE. Allergic reaction to peanuts that is triggered by the immune system.
http://purl.obolibrary.org/obo/MONDO_0006072	obsolete adenoid cystic breast carcinoma				OBSOLETE. An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.
http://purl.obolibrary.org/obo/MONDO_0021191	obsolete malignant ependymoma				
http://purl.obolibrary.org/obo/MONDO_0024255	obsolete genetic skin disease				
http://purl.obolibrary.org/obo/MONDO_0022145	obsolete Chiari malformation type II				
http://purl.obolibrary.org/obo/MONDO_0022200	obsolete treatment for disease				
http://purl.obolibrary.org/obo/MONDO_0022880	obsolete corticobasal degeneration				
http://purl.obolibrary.org/obo/MONDO_0022921	obsolete short stature-microcephaly-heart defect syndrome				
http://purl.obolibrary.org/obo/MONDO_0023037	obsolete elongated styloid process syndrome				
http://purl.obolibrary.org/obo/MONDO_0023156	obsolete fibular aplasia				
http://purl.obolibrary.org/obo/MONDO_0023807	obsolete midphalangeal hair				
http://purl.obolibrary.org/obo/MONDO_0024254	obsolete vibratory angioedema				
http://purl.obolibrary.org/obo/MONDO_0024267	obsolete epidemic encephalitis				
http://purl.obolibrary.org/obo/MONDO_0021421	obsolete carcinoid tumors, intestina				
http://purl.obolibrary.org/obo/MONDO_0100317	obsolete deficiency of adenosine deaminase 2				
http://purl.obolibrary.org/obo/MONDO_0957025	obsolete hereditary 46,XY disorder of sex development				
http://purl.obolibrary.org/obo/MONDO_0800460	obsolete ASAH1-related disorders				
http://purl.obolibrary.org/obo/HsapDv_0000081	child stage				
http://purl.obolibrary.org/obo/HsapDv_0000089	young adult stage				
http://purl.obolibrary.org/obo/MONDO_0007455	obsolete diabetes mellitus, noninsulin-dependent				
http://purl.obolibrary.org/obo/MONDO_0007468	obsolete DNA, satellite, alpha type				
http://purl.obolibrary.org/obo/MONDO_0007484	obsolete dyschromatosis universalis				
http://purl.obolibrary.org/obo/MONDO_0007505	obsolete earring holes, natural				
http://purl.obolibrary.org/obo/MONDO_0007506	obsoleted echo virus 11 sensitivity				
http://purl.obolibrary.org/obo/MONDO_0007521	obsolete egasyn				
http://purl.obolibrary.org/obo/MONDO_0007532	obsolete Electroencephalographic peculiarity: occipital slow beta waves				
http://purl.obolibrary.org/obo/MONDO_0007543	obsolete enolase, sperm specific				
http://purl.obolibrary.org/obo/MONDO_0007567	obsolete Epstein-Barr virus insertion site 1				
http://purl.obolibrary.org/obo/MONDO_0007578	obsolete esterase B				
http://purl.obolibrary.org/obo/MONDO_0007579	obsolete esterase C				
http://purl.obolibrary.org/obo/MONDO_0007580	obsolete esterase ES-2, regulator for				
http://purl.obolibrary.org/obo/MONDO_0007582	obsolete Cockayne syndrome B				
http://purl.obolibrary.org/obo/MONDO_0007602	obsolete favism, susceptibility to				
http://purl.obolibrary.org/obo/MONDO_0007632	obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)				
http://purl.obolibrary.org/obo/MONDO_0007641	obsolete Futcher line				
http://purl.obolibrary.org/obo/MONDO_0007649	obsolete gastric juice peptides				
http://purl.obolibrary.org/obo/MONDO_0007678	obsolete glycoprotein, renal				
http://purl.obolibrary.org/obo/MONDO_0007714	obsolete migraine, familial hemiplegic, 1				
http://purl.obolibrary.org/obo/MONDO_0007731	obsolete HLA modifier				
http://purl.obolibrary.org/obo/MONDO_0007736	obsolete HPA 1 Recognition polymorphism, beta-globin-related				
http://purl.obolibrary.org/obo/MONDO_0007749	obsolete autosomal recessive infantile hypercalcemia				
http://purl.obolibrary.org/obo/MONDO_0007780	obsolete hypertelorism, Teebi type				
http://purl.obolibrary.org/obo/MONDO_0007816	obsolete immune suppression				
http://purl.obolibrary.org/obo/MONDO_0007821	obsolete immunoglobulin switch sequences				
http://purl.obolibrary.org/obo/MONDO_0007822	obsolete incisors, long upper central				
http://purl.obolibrary.org/obo/MONDO_0007823	obsolete insulin receptors, familial increase 1N				
http://purl.obolibrary.org/obo/MONDO_0007897	obsolete leukemia, chronic lymphocytic				
http://purl.obolibrary.org/obo/MONDO_0007903	obsolete Li-Fraumeni syndrome 1				
http://purl.obolibrary.org/obo/MONDO_0007928	obsolete Fechtner syndrome				
http://purl.obolibrary.org/obo/MONDO_0007929	obsolete Epstein syndrome				
http://purl.obolibrary.org/obo/MONDO_0007954	obsolete May-Hegglin anomaly				
http://purl.obolibrary.org/obo/MONDO_0008042	obsolete myoclonus and ataxia				
http://purl.obolibrary.org/obo/MONDO_0008074	obsolete nerve growth factor, alpha subunit				
http://purl.obolibrary.org/obo/MONDO_0008077	obsolete neurofibromatosis, type 1				
http://purl.obolibrary.org/obo/MONDO_0008091	obsolete abnormal neutrophil chemotactic response				
http://purl.obolibrary.org/obo/MONDO_0008110	obsolete ocular dominance				
http://purl.obolibrary.org/obo/MONDO_0008126	obsolete oncogene Yuasa				
http://purl.obolibrary.org/obo/MONDO_0008190	obsolete human papillomavirus type 18 integration site 1				
http://purl.obolibrary.org/obo/MONDO_0008191	obsolete human papillomavirus type 18 integration site 2				
http://purl.obolibrary.org/obo/MONDO_0008220	obsolete pepsinogen 3, group 1				
http://purl.obolibrary.org/obo/MONDO_0008326	obsolete pseudocholinesterase, increase in plasma level of				
http://purl.obolibrary.org/obo/MONDO_0008370	obsolete reticular dystrophy of retinal pigment epithelium				
http://purl.obolibrary.org/obo/MONDO_0008405	obsolete scapula, contour of vertebral border of				
http://purl.obolibrary.org/obo/MONDO_0008415	obsolete Scholte syndrome				
http://purl.obolibrary.org/obo/MONDO_0008432	obsolete ketone compounds, ability to smell				
http://purl.obolibrary.org/obo/MONDO_0008480	obsolete odontochondrodysplasia				
http://purl.obolibrary.org/obo/MONDO_0008531	obsolete T-complex locus TCP10B				
http://purl.obolibrary.org/obo/MONDO_0008548	obsolete theophylline Biotransformation				
http://purl.obolibrary.org/obo/MONDO_0008574	obsolete Tl antigen				
http://purl.obolibrary.org/obo/MONDO_0008658	obsolete virus Rd114 RNA Complementarity				
http://purl.obolibrary.org/obo/MONDO_0008664	obsolete autosomal dominant neovascular inflammatory vitreoretinopathy				
http://purl.obolibrary.org/obo/MONDO_0008677	obsolete widow's peak				
http://purl.obolibrary.org/obo/MONDO_0008691	obsolete zinc, elevated plasma				
http://purl.obolibrary.org/obo/MONDO_0008697	obsolete acetophenetidin sensitivity				
http://purl.obolibrary.org/obo/MONDO_0008807	obsolete apnea, central sleep				
http://purl.obolibrary.org/obo/MONDO_0008906	obsolete carbimazole sensitivity				
http://purl.obolibrary.org/obo/MONDO_0008956	obsolete congenital neuronal ceroid lipofuscinosis				
http://purl.obolibrary.org/obo/MONDO_0008997	obsolete Cockayne syndrome A				
http://purl.obolibrary.org/obo/MONDO_0009011	obsolete constriction rings syndrome				
http://purl.obolibrary.org/obo/MONDO_0009027	obsolete cramps, familial adolescent				
http://purl.obolibrary.org/obo/MONDO_0009078	obsolete Jervell and Lange-Nielsen syndrome				
http://purl.obolibrary.org/obo/MONDO_0009117	obsolete disorganization, mouse, homolog of				
http://purl.obolibrary.org/obo/MONDO_0009125	obsolete dopamine beta-hydroxylase, plasma, thermolability of				
http://purl.obolibrary.org/obo/MONDO_0009160	obsolete Ehlers-Danlos syndrome, type 6				
http://purl.obolibrary.org/obo/MONDO_0009250	obsolete fructose utilization				
http://purl.obolibrary.org/obo/MONDO_0009278	obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency				
http://purl.obolibrary.org/obo/MONDO_0009289	obsolete glycogen storage disease IC				
http://purl.obolibrary.org/obo/MONDO_0009327	obsolete heart, malformation of				
http://purl.obolibrary.org/obo/MONDO_0009799	obsolete pachydermoperiostosis				
http://purl.obolibrary.org/obo/MONDO_0011394	obsolete keratosis pilaris atrophicans				
http://purl.obolibrary.org/obo/MONDO_0012026	obsolete myotonia, potassium-aggravated				
http://purl.obolibrary.org/obo/MONDO_0015077	obsolete adrenal/paraganglial tumor				
http://purl.obolibrary.org/obo/MONDO_0015111	obsolete gastroesophageal disease				
http://purl.obolibrary.org/obo/MONDO_0015114	obsolete rare parenchymal liver disease				
http://purl.obolibrary.org/obo/MONDO_0015115	obsolete rare genetic metabolic liver disease				
http://purl.obolibrary.org/obo/MONDO_0015124	obsolete rare adrenal disease				
http://purl.obolibrary.org/obo/MONDO_0015147	obsolete other syndrome with lissencephaly as a major feature				
http://purl.obolibrary.org/obo/MONDO_0015163	obsolete primary glomerular disease				
http://purl.obolibrary.org/obo/MONDO_0015178	obsolete congenital intestinal transport defect				
http://purl.obolibrary.org/obo/MONDO_0015179	obsolete intestinal disease due to vitamin absorption anomaly				
http://purl.obolibrary.org/obo/MONDO_0015180	obsolete intestinal disease due to fat malabsorption				
http://purl.obolibrary.org/obo/MONDO_0015181	obsolete congenital intestinal disease due to an enzymatic defect				
http://purl.obolibrary.org/obo/MONDO_0015184	obsolete rare disease involving intestinal motility				
http://purl.obolibrary.org/obo/MONDO_0015213	obsolete non-syndromic visceral malformation				
http://purl.obolibrary.org/obo/MONDO_0015226	obsolete syndrome with limb malformations as a major feature				
http://purl.obolibrary.org/obo/MONDO_0015227	obsolete non-syndromic limb malformation				
http://purl.obolibrary.org/obo/MONDO_0015310	obsolete syndromic optic nerve hypoplasia				
http://purl.obolibrary.org/obo/MONDO_0015318	obsolete Pierre Robin syndrome associated with collagen disease				
http://purl.obolibrary.org/obo/MONDO_0015321	obsolete Pierre Robin syndrome associated with branchial archs anomalies				
http://purl.obolibrary.org/obo/MONDO_0015323	obsolete teratogenic Pierre Robin syndrome				
http://purl.obolibrary.org/obo/MONDO_0015329	obsolete malformation syndrome with short stature				
http://purl.obolibrary.org/obo/MONDO_0015332	obsolete rare developmental defect with connective tissue involvement				
http://purl.obolibrary.org/obo/MONDO_0015359	obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy				
http://purl.obolibrary.org/obo/MONDO_0015361	obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy				
http://purl.obolibrary.org/obo/MONDO_0015489	obsolete predominantly medium-vessel vasculitis				
http://purl.obolibrary.org/obo/MONDO_0015490	obsolete predominantly small-vessel vasculitis				
http://purl.obolibrary.org/obo/MONDO_0015499	obsolete paralytic facial malformation				
http://purl.obolibrary.org/obo/MONDO_0015502	obsolete pinnae and external auditory canal anomaly				
http://purl.obolibrary.org/obo/MONDO_0015504	obsolete larynx anomaly				
http://purl.obolibrary.org/obo/MONDO_0015508	obsolete hereditary parenchymatous liver disease				
http://purl.obolibrary.org/obo/MONDO_0015549	obsolete rare genetic hematologic disease				
http://purl.obolibrary.org/obo/MONDO_0015581	obsolete bile acid synthesis defect with cholestasis and malabsorption				
http://purl.obolibrary.org/obo/MONDO_0015616	obsolete rare genetic intestinal disease				
http://purl.obolibrary.org/obo/MONDO_0015617	obsolete hereditary gastro-esophageal disease				
http://purl.obolibrary.org/obo/MONDO_0015618	obsolete genetic pancreatic disease				
http://purl.obolibrary.org/obo/MONDO_0015621	obsolete rare abdominal surgical disease				
http://purl.obolibrary.org/obo/MONDO_0015651	obsolete neurocutaneous syndrome with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0015669	obsolete rare disease with dentinogenesis imperfecta				
http://purl.obolibrary.org/obo/MONDO_0015679	obsolete autosomal thrombocytopenia with normal platelets				
http://purl.obolibrary.org/obo/MONDO_0015710	obsolete immune dysregulation disease with immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0015853	obsolete deficient breast volume or number				
http://purl.obolibrary.org/obo/MONDO_0015877	obsolete malformative syndrome with dentinogenesis imperfecta				
http://purl.obolibrary.org/obo/MONDO_0015880	obsolete syndromic diaphragmatic or thoracic malformation				
http://purl.obolibrary.org/obo/MONDO_0015887	obsolete rare diabetes mellitus type 2				
http://purl.obolibrary.org/obo/MONDO_0015888	obsolete other rare diabetes mellitus				
http://purl.obolibrary.org/obo/MONDO_0015891	obsolete hypogonadotropic hypogonadism associated with other endocrinopathies				
http://purl.obolibrary.org/obo/MONDO_0015895	obsolete syndrome with hypoparathyroidism				
http://purl.obolibrary.org/obo/MONDO_0015906	obsolete rare disorder with hypergonadotropic hypogonadism				
http://purl.obolibrary.org/obo/MONDO_0015910	obsolete rare constitutional hemolytic anemia				
http://purl.obolibrary.org/obo/MONDO_0015916	obsolete rare neuroinflammatory or neuroimmunological disease				
http://purl.obolibrary.org/obo/MONDO_0015930	obsolete respiratory malformation				
http://purl.obolibrary.org/obo/MONDO_0015961	obsolete hereditary head and neck malformation				
http://purl.obolibrary.org/obo/MONDO_0015966	obsolete hereditary eye tumor				
http://purl.obolibrary.org/obo/MONDO_0015970	obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder				
http://purl.obolibrary.org/obo/MONDO_0015971	obsolete rare genetic adrenal disease				
http://purl.obolibrary.org/obo/MONDO_0016034	obsolete cleft lip with or without cleft palate				
http://purl.obolibrary.org/obo/MONDO_0016117	obsolete muscular lipidosis				
http://purl.obolibrary.org/obo/MONDO_0016118	obsolete muscular glycogenosis				
http://purl.obolibrary.org/obo/MONDO_0016132	obsolete rare hereditary disease with peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016133	obsolete rare hereditary metabolic disease with peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016136	obsolete cerebellar ataxia with peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016138	obsolete malignant lymphoma with peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016201	obsolete qualitative or quantitative defects of myotilin				
http://purl.obolibrary.org/obo/MONDO_0016235	obsolete complex vascular malformation with associated anomalies				
http://purl.obolibrary.org/obo/MONDO_0016325	obsolete glycogen storage disease with hypertrophic cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016326	obsolete lysosomal disease with hypertrophic cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016327	obsolete mitochondrial disease with hypertrophic cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016328	obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016329	obsolete familial syndrome associated with hypertrophic cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016334	obsolete neuromuscular disease with dilated cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016336	obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016337	obsolete syndrome associated with dilated cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016341	obsolete lysosomal disease with restrictive cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016352	obsolete idiopathic inherited hypercalciuria				
http://purl.obolibrary.org/obo/MONDO_0016361	obsolete isolated hereditary giant platelet disorder				
http://purl.obolibrary.org/obo/MONDO_0016375	obsolete acquired peripheral movement disorder				
http://purl.obolibrary.org/obo/MONDO_0016397	obsolete lysosomal disease with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016402	obsolete mitochondrial disease with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016403	obsolete mitochondrial disease with peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016405	obsolete sterol metabolism disorder with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016406	obsolete other metabolic disease with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016565	obsolete syndromic genetic obesity				
http://purl.obolibrary.org/obo/MONDO_0016569	obsolete rare lymphatic malformation				
http://purl.obolibrary.org/obo/MONDO_0016633	obsolete thrombotic disorder due to a constitutional coagulation factors defect				
http://purl.obolibrary.org/obo/MONDO_0016640	obsolete fibrous dysplasia of bone				
http://purl.obolibrary.org/obo/MONDO_0016708	obsolete embryonal tumor of neuroepithelial tissue				
http://purl.obolibrary.org/obo/MONDO_0016799	obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism				
http://purl.obolibrary.org/obo/MONDO_0016805	obsolete isolated oxidative phosphorylation complex disorder				
http://purl.obolibrary.org/obo/MONDO_0016886	obsolete partial deletion of the short arm of chromosome 4				
http://purl.obolibrary.org/obo/MONDO_0016891	obsolete partial deletion of the short arm of chromosome 9				
http://purl.obolibrary.org/obo/MONDO_0016895	obsolete partial monosomy of the short arm of chromosome 17				
http://purl.obolibrary.org/obo/MONDO_0016896	obsolete partial deletion of the short arm of chromosome 18				
http://purl.obolibrary.org/obo/MONDO_0016997	obsolete hereditary epidermolysis bullosa associated with ocular features				
http://purl.obolibrary.org/obo/MONDO_0017017	obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder				
http://purl.obolibrary.org/obo/MONDO_0017021	obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease				
http://purl.obolibrary.org/obo/MONDO_0017023	obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease				
http://purl.obolibrary.org/obo/MONDO_0017024	obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease				
http://purl.obolibrary.org/obo/MONDO_0017031	obsolete primary interstitial lung disease in childhood and adulthood				
http://purl.obolibrary.org/obo/MONDO_0017035	obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease				
http://purl.obolibrary.org/obo/MONDO_0017037	obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease				
http://purl.obolibrary.org/obo/MONDO_0017038	obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis				
http://purl.obolibrary.org/obo/MONDO_0017099	obsolete facioscapulohumeral dystrophy				
http://purl.obolibrary.org/obo/MONDO_0017104	obsolete central nervous system cystic malformation				
http://purl.obolibrary.org/obo/MONDO_0017114	obsolete global cerebellar malformation				
http://purl.obolibrary.org/obo/MONDO_0017118	obsolete syndrome with a cerebellar malformation as major feature				
http://purl.obolibrary.org/obo/MONDO_0017119	obsolete syndrome with microcephaly as major feature				
http://purl.obolibrary.org/obo/MONDO_0017121	obsolete syndrome with a Dandy-Walker malformation as major feature				
http://purl.obolibrary.org/obo/MONDO_0017128	obsolete inherited digestive tract tumor				
http://purl.obolibrary.org/obo/MONDO_0017130	obsolete genetic urogenital tumor				
http://purl.obolibrary.org/obo/MONDO_0017142	obsolete hemorrhagic disorder due to a qualitative platelet defect				
http://purl.obolibrary.org/obo/MONDO_0017274	obsolete autosomal ichthyosis syndrome with other associated signs				
http://purl.obolibrary.org/obo/MONDO_0017368	obsolete systemic disease with skin involvement				
http://purl.obolibrary.org/obo/MONDO_0017421	obsolete non-syndromic terminal limb defects				
http://purl.obolibrary.org/obo/MONDO_0017608	obsolete dystrophic epidermolysis bullosa				
http://purl.obolibrary.org/obo/MONDO_0017644	obsolete rare tremor disorder				
http://purl.obolibrary.org/obo/MONDO_0017655	obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017656	obsolete motor stereotypies				
http://purl.obolibrary.org/obo/MONDO_0017657	obsolete rare paroxysmal movement disorder				
http://purl.obolibrary.org/obo/MONDO_0017660	obsolete rare genetic parkinsonian disorder				
http://purl.obolibrary.org/obo/MONDO_0017661	obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease				
http://purl.obolibrary.org/obo/MONDO_0017662	obsolete miscellaneous movement disorder due to genetic neurodegenerative disease				
http://purl.obolibrary.org/obo/MONDO_0017663	obsolete inherited tremor disorder				
http://purl.obolibrary.org/obo/MONDO_0017670	obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma				
http://purl.obolibrary.org/obo/MONDO_0017671	obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017679	obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017743	obsolete disorder of O-N-acetylgalactosaminylglycan synthesis				
http://purl.obolibrary.org/obo/MONDO_0017756	obsolete disorder of pterin metabolism				
http://purl.obolibrary.org/obo/MONDO_0017821	obsolete functioning pituitary adenoma				
http://purl.obolibrary.org/obo/MONDO_0017828	obsolete primary renal tubular acidosis				
http://purl.obolibrary.org/obo/MONDO_0017891	obsolete inherited renal cancer-predisposing syndrome				
http://purl.obolibrary.org/obo/MONDO_0017911	obsolete cleft lip/palate-ectodermal dysplasia syndrome				
http://purl.obolibrary.org/obo/MONDO_0017914	obsolete pure or complex autosomal dominant spastic paraplegia				
http://purl.obolibrary.org/obo/MONDO_0017955	obsolete granulomatous autoinflammatory syndrome				
http://purl.obolibrary.org/obo/MONDO_0017961	obsolete 46,XX disorder of gonadal development				
http://purl.obolibrary.org/obo/MONDO_0017965	obsolete syndrome with 46,XX disorder of sex development				
http://purl.obolibrary.org/obo/MONDO_0018032	obsolete constitutional neutropenia with extra-hematopoietic manifestations				
http://purl.obolibrary.org/obo/MONDO_0018033	obsolete other immunodeficiency syndromes due to defects in innate immunity				
http://purl.obolibrary.org/obo/MONDO_0018035	obsolete syndrome with combined immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0018036	obsolete immunodeficiency due to absence of thymus				
http://purl.obolibrary.org/obo/MONDO_0018042	obsolete immunodeficiency syndrome with abnormal pigmentation				
http://purl.obolibrary.org/obo/MONDO_0018049	obsolete Kaposi sarcoma				
http://purl.obolibrary.org/obo/MONDO_0018118	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement				
http://purl.obolibrary.org/obo/MONDO_0018120	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement				
http://purl.obolibrary.org/obo/MONDO_0018188	obsolete hereditary intestinal polyposis				
http://purl.obolibrary.org/obo/MONDO_0018231	obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments				
http://purl.obolibrary.org/obo/MONDO_0018235	obsolete dysostosis with limb anomaly as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018241	obsolete primary short bowel syndrome				
http://purl.obolibrary.org/obo/MONDO_0018286	obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018287	obsolete congenital disorder of glycosylation with epilepsy as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018288	obsolete congenital disorder of glycosylation with hepatic involvement				
http://purl.obolibrary.org/obo/MONDO_0018290	obsolete congenital disorder of glycosylation with cardiac malformation as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018293	obsolete congenital disorder of glycosylation with skin involvement				
http://purl.obolibrary.org/obo/MONDO_0018299	obsolete sphingolipidosis with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0018303	obsolete generalized isolated dystonia				
http://purl.obolibrary.org/obo/MONDO_0018377	obsolete rare hereditary disease with avascular necrosis				
http://purl.obolibrary.org/obo/MONDO_0018387	obsolete rare male infertility due to adrenal disorder				
http://purl.obolibrary.org/obo/MONDO_0018399	obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism				
http://purl.obolibrary.org/obo/MONDO_0018400	obsolete rare female infertility due to an adrenal disorder				
http://purl.obolibrary.org/obo/MONDO_0018402	obsolete female infertility due to gonadal dysgenesis				
http://purl.obolibrary.org/obo/MONDO_0018406	obsolete rare male infertility due to adrenal disorder of genetic origin				
http://purl.obolibrary.org/obo/MONDO_0018409	obsolete rare genetic disorder with obstructive azoospermia				
http://purl.obolibrary.org/obo/MONDO_0018412	obsolete rare female infertility due to adrenal disorder of genetic origin				
http://purl.obolibrary.org/obo/MONDO_0018538	obsolete inherited digestive cancer-predisposing syndrome				
http://purl.obolibrary.org/obo/MONDO_0018549	obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies				
http://purl.obolibrary.org/obo/MONDO_0018700	obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy				
http://purl.obolibrary.org/obo/MONDO_0018719	obsolete obsolete rare capillary malformation with associated anomalies				
http://purl.obolibrary.org/obo/MONDO_0018722	obsolete primary lymphedema with associated anomalies				
http://purl.obolibrary.org/obo/MONDO_0018728	obsolete rare genetic capillary malformation				
http://purl.obolibrary.org/obo/MONDO_0018731	obsolete lethal multiple congenital anomalies/dysmorphic syndrome				
http://purl.obolibrary.org/obo/MONDO_0018753	obsolete rare disease with malignant hyperthermia				
http://purl.obolibrary.org/obo/MONDO_0018782	obsolete type 1 interferonopathy				
http://purl.obolibrary.org/obo/MONDO_0018790	obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency				
http://purl.obolibrary.org/obo/MONDO_0018792	obsolete Moyamoya syndrome				
http://purl.obolibrary.org/obo/MONDO_0018797	obsolete genetic cardiac malformation				
http://purl.obolibrary.org/obo/MONDO_0019039	obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect				
http://purl.obolibrary.org/obo/MONDO_0019044	obsolete tumor of hematopoietic and lymphoid tissues				
http://purl.obolibrary.org/obo/MONDO_0019057	obsolete rare constitutional aplastic anemia				
http://purl.obolibrary.org/obo/MONDO_0019061	obsolete rare parathyroid disease and phosphocalcic metabolism anomaly				
http://purl.obolibrary.org/obo/MONDO_0019110	obsolete rare central nervous system or retinal vascular disease				
http://purl.obolibrary.org/obo/MONDO_0019174	obsolete infantile Refsum disease				
http://purl.obolibrary.org/obo/MONDO_0019183	obsolete inherited odontologic disease				
http://purl.obolibrary.org/obo/MONDO_0019217	obsolete inborn disorder of urea cycle metabolism and ammonia detoxification				
http://purl.obolibrary.org/obo/MONDO_0019247	obsolete combined hyperlipidemia (including acquired and inherited)				
http://purl.obolibrary.org/obo/MONDO_0019252	obsolete other metabolic disease with skin involvement				
http://purl.obolibrary.org/obo/MONDO_0019274	obsolete other epidermal disorder				
http://purl.obolibrary.org/obo/MONDO_0019275	obsolete other genetic epidermal disease				
http://purl.obolibrary.org/obo/MONDO_0019281	obsolete isolated genetic hair shaft abnormality				
http://purl.obolibrary.org/obo/MONDO_0019282	obsolete syndromic hair shaft abnormality				
http://purl.obolibrary.org/obo/MONDO_0019299	obsolete unclassified genetic skin disorder				
http://purl.obolibrary.org/obo/MONDO_0019301	obsolete metabolic disease with skin involvement				
http://purl.obolibrary.org/obo/MONDO_0019304	obsolete rare photodermatosis				
http://purl.obolibrary.org/obo/MONDO_0019305	obsolete immune deficiency with skin involvement				
http://purl.obolibrary.org/obo/MONDO_0019341	obsolete tuberous sclerosis complex				
http://purl.obolibrary.org/obo/MONDO_0019564	obsolete systemic sclerosis				
http://purl.obolibrary.org/obo/MONDO_0019593	obsolete 46,XX disorder of sex development induced by fetal androgens excess				
http://purl.obolibrary.org/obo/MONDO_0019595	obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect				
http://purl.obolibrary.org/obo/MONDO_0019602	obsolete other inborn metabolic disease				
http://purl.obolibrary.org/obo/MONDO_0019683	obsolete syndactyly type 2				
http://purl.obolibrary.org/obo/MONDO_0019687	obsolete type 11 collagen-related bone disorder				
http://purl.obolibrary.org/obo/MONDO_0019688	obsolete sulfation-related bone disorder				
http://purl.obolibrary.org/obo/MONDO_0019689	obsolete perlecan-related bone disorder				
http://purl.obolibrary.org/obo/MONDO_0019692	obsolete multiple epiphyseal dysplasia and pseudoachondroplasia				
http://purl.obolibrary.org/obo/MONDO_0019693	obsolete multiple metaphyseal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0019699	obsolete slender bone dysplasia				
http://purl.obolibrary.org/obo/MONDO_0019704	obsolete primary bone dysplasia with decreased bone density				
http://purl.obolibrary.org/obo/MONDO_0019712	obsolete patellar dysostosis				
http://purl.obolibrary.org/obo/MONDO_0019718	obsolete lethal chondrodysplasia				
http://purl.obolibrary.org/obo/MONDO_0019723	obsolete disease of glomerular basement membrane				
http://purl.obolibrary.org/obo/MONDO_0019827	obsolete disease associated with non-acquired combined pituitary hormone deficiency				
http://purl.obolibrary.org/obo/MONDO_0019833	obsolete pituitary hormone deficiency from tumoral origin				
http://purl.obolibrary.org/obo/MONDO_0019834	obsolete pituitary hormone deficiency from meningeal origin				
http://purl.obolibrary.org/obo/MONDO_0019859	obsolete congenital thyroid malformation without hypothyroidism				
http://purl.obolibrary.org/obo/MONDO_0020038	obsolete gonadal dysgenesis of gynecological interest				
http://purl.obolibrary.org/obo/MONDO_0020045	obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect				
http://purl.obolibrary.org/obo/MONDO_0020051	obsolete total autosomal trisomy				
http://purl.obolibrary.org/obo/MONDO_0020098	obsolete constitutional anemia due to iron metabolism disorder				
http://purl.obolibrary.org/obo/MONDO_0020103	obsolete constitutional hemolytic anemia due to acanthocytosis				
http://purl.obolibrary.org/obo/MONDO_0020105	obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies				
http://purl.obolibrary.org/obo/MONDO_0020106	obsolete hemolytic anemia due to a disorder of glycolytic enzymes				
http://purl.obolibrary.org/obo/MONDO_0020111	obsolete constitutional megaloblastic anemia due to folate metabolism disorder				
http://purl.obolibrary.org/obo/MONDO_0020118	obsolete dense granule disease				
http://purl.obolibrary.org/obo/MONDO_0020130	obsolete malformation of the cerebellar vermis				
http://purl.obolibrary.org/obo/MONDO_0020132	obsolete cranial nerve and nuclear aplasia				
http://purl.obolibrary.org/obo/MONDO_0020154	obsolete microblepharon-ablephara syndrome				
http://purl.obolibrary.org/obo/MONDO_0020157	obsolete syndromic palpebral coloboma				
http://purl.obolibrary.org/obo/MONDO_0020163	obsolete canthal anomaly				
http://purl.obolibrary.org/obo/MONDO_0020165	obsolete syndromic epicanthus				
http://purl.obolibrary.org/obo/MONDO_0020167	obsolete malposition of external canthus				
http://purl.obolibrary.org/obo/MONDO_0020182	obsolete palpebral tumor with a vascular malformation				
http://purl.obolibrary.org/obo/MONDO_0020188	obsolete congenital absence of the eyebrow/eyelashes				
http://purl.obolibrary.org/obo/MONDO_0020190	obsolete eyebrow/eyelashes distichiasis				
http://purl.obolibrary.org/obo/MONDO_0020191	obsolete eyebrow/eyelashes pigmentation anomaly				
http://purl.obolibrary.org/obo/MONDO_0020194	obsolete congenital alacrima				
http://purl.obolibrary.org/obo/MONDO_0020195	obsolete excretory apparatus of the lacrimal system anomaly				
http://purl.obolibrary.org/obo/MONDO_0020200	obsolete conjunctival hemangioma or hemolymphangioma				
http://purl.obolibrary.org/obo/MONDO_0020201	obsolete conjunctival telangiectasia				
http://purl.obolibrary.org/obo/MONDO_0020203	obsolete pigmented conjunctival lesion				
http://purl.obolibrary.org/obo/MONDO_0020205	obsolete bulbar conjunctival dermoid or conjunctival dermolipoma				
http://purl.obolibrary.org/obo/MONDO_0020218	obsolete goniodysgenesis				
http://purl.obolibrary.org/obo/MONDO_0020226	obsolete chromosomal anomaly with cataract				
http://purl.obolibrary.org/obo/MONDO_0020231	obsolete cardiac disease with cataract				
http://purl.obolibrary.org/obo/MONDO_0020232	obsolete musculoskeletal disease with cataract				
http://purl.obolibrary.org/obo/MONDO_0020233	obsolete dentocutaneous disease with cataract				
http://purl.obolibrary.org/obo/MONDO_0020234	obsolete craniofacial anomaly with cataract				
http://purl.obolibrary.org/obo/MONDO_0020235	obsolete lens size anomaly				
http://purl.obolibrary.org/obo/MONDO_0020237	obsolete lens shape anomaly				
http://purl.obolibrary.org/obo/MONDO_0020238	obsolete inherited vitreous-retinal disease				
http://purl.obolibrary.org/obo/MONDO_0020239	obsolete color-vision disease				
http://purl.obolibrary.org/obo/MONDO_0020244	obsolete unclassified primitive or secondary maculopathy				
http://purl.obolibrary.org/obo/MONDO_0020245	obsolete disease predisposing to age-related macular degeneration				
http://purl.obolibrary.org/obo/MONDO_0020258	obsolete oculomotor apraxia or related oculomotor disease				
http://purl.obolibrary.org/obo/MONDO_0020259	obsolete myopathy with eye involvement				
http://purl.obolibrary.org/obo/MONDO_0020261	obsolete neurological disease with abnormal eye movements				
http://purl.obolibrary.org/obo/MONDO_0020262	obsolete nervous system anomaly with eye involvement				
http://purl.obolibrary.org/obo/MONDO_0020264	obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly				
http://purl.obolibrary.org/obo/MONDO_0020272	obsolete connective tissue disease with eye involvement				
http://purl.obolibrary.org/obo/MONDO_0020274	obsolete onycho-patellar syndrome with eye involvement				
http://purl.obolibrary.org/obo/MONDO_0020277	obsolete ectodermal malformation syndrome associated with ocular features				
http://purl.obolibrary.org/obo/MONDO_0020280	obsolete metabolic disease with cataract				
http://purl.obolibrary.org/obo/MONDO_0020281	obsolete metabolic disease with pigmentary retinitis				
http://purl.obolibrary.org/obo/MONDO_0020484	obsolete rare familial disorder with hypertrophic cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0020489	obsolete familial hyperreninemic hypoaldosteronism type 1				
http://purl.obolibrary.org/obo/MONDO_0020536	obsolete pigeon-breeder lung disease				
http://purl.obolibrary.org/obo/MONDO_0019765	obsolete celosomia				
http://purl.obolibrary.org/obo/MONDO_0019775	obsolete Chudley-Lowry-Hoar syndrome				
http://purl.obolibrary.org/obo/MONDO_0019777	obsolete Carpenter-Waziri syndrome				
http://purl.obolibrary.org/obo/MONDO_0019785	obsolete 15q24 microdeletion syndrome				
http://purl.obolibrary.org/obo/MONDO_0019816	obsolete anomaly of the tricuspid subvalvular apparatus				
http://purl.obolibrary.org/obo/MONDO_0019826	obsolete abnormal origin or aberrant course of coronary artery				
http://purl.obolibrary.org/obo/MONDO_0019831	obsolete congenital anomaly of the coronary sinus				
http://purl.obolibrary.org/obo/MONDO_0019837	obsolete atrial appendage anomaly				
http://purl.obolibrary.org/obo/MONDO_0019847	obsolete congenital adrenal hypoplasia of maternal cause				
http://purl.obolibrary.org/obo/MONDO_0019863	obsolete acro-renal-ocular syndrome				
http://purl.obolibrary.org/obo/MONDO_0019894	obsolete non-distal monosomy 7p				
http://purl.obolibrary.org/obo/MONDO_0019899	obsolete distal monosomy 20q				
http://purl.obolibrary.org/obo/MONDO_0019946	obsolete ligneous conjunctivitis				
http://purl.obolibrary.org/obo/MONDO_0019968	obsolete Osgood-Schlatter disease				
http://purl.obolibrary.org/obo/MONDO_0020050	obsolete autosomal trisomy				
http://purl.obolibrary.org/obo/MONDO_0020060	obsolete gonosome structural anomaly				
http://purl.obolibrary.org/obo/MONDO_0020080	obsolete histiocytic and dendritic cell tumor				
http://purl.obolibrary.org/obo/MONDO_0020084	obsolete lymphoproliferative disease associated with primary immune disease				
http://purl.obolibrary.org/obo/MONDO_0020086	obsolete idiopathic interstitial pneumonia				
http://purl.obolibrary.org/obo/MONDO_0020092	obsolete rare idiopathic male infertility				
http://purl.obolibrary.org/obo/MONDO_0020138	obsolete ataxia with dementia				
http://purl.obolibrary.org/obo/MONDO_0020140	obsolete late-onset ataxia with dementia				
http://purl.obolibrary.org/obo/MONDO_0020150	obsolete obsolete rare palpebral, lacrimal system and conjunctival disease				
http://purl.obolibrary.org/obo/MONDO_0020152	obsolete rare eyelid malformation				
http://purl.obolibrary.org/obo/MONDO_0020158	obsolete eyelids malposition disorder				
http://purl.obolibrary.org/obo/MONDO_0020164	obsolete epicanthal fold				
http://purl.obolibrary.org/obo/MONDO_0020168	obsolete kinetic eyelid anomaly				
http://purl.obolibrary.org/obo/MONDO_0020170	obsolete congenital upper palpebral retraction				
http://purl.obolibrary.org/obo/MONDO_0020171	obsolete palpebral tumor				
http://purl.obolibrary.org/obo/MONDO_0020184	obsolete rare eyebrow/eyelashes anomaly				
http://purl.obolibrary.org/obo/MONDO_0020187	obsolete eyelashes hypertrophy				
http://purl.obolibrary.org/obo/MONDO_0020193	obsolete secretory apparatus of the lacrimal system anomaly				
http://purl.obolibrary.org/obo/MONDO_0020196	obsolete anomaly of the secretory and excretory apparatus of the lacrimal system				
http://purl.obolibrary.org/obo/MONDO_0020199	obsolete conjunctival vascular anomaly				
http://purl.obolibrary.org/obo/MONDO_0020206	obsolete rare refraction anomaly				
http://purl.obolibrary.org/obo/MONDO_0020223	obsolete lens and zonula anomaly				
http://purl.obolibrary.org/obo/MONDO_0020227	obsolete systemic disease with cataract				
http://purl.obolibrary.org/obo/MONDO_0020256	obsolete congenital trochlear nerve palsy				
http://purl.obolibrary.org/obo/MONDO_0020267	obsolete genetic keratinization disorder associated with ocular features				
http://purl.obolibrary.org/obo/MONDO_0020270	obsolete pigmentation disorder with eye involvement				
http://purl.obolibrary.org/obo/MONDO_0020278	obsolete metabolic disease associated with ocular features				
http://purl.obolibrary.org/obo/MONDO_0020299	obsolete spinocerebellar ataxia type 15/16				
http://purl.obolibrary.org/obo/MONDO_0020306	obsolete absent tibia-polydactyly syndrome				
http://purl.obolibrary.org/obo/MONDO_0020313	obsolete unclassified myelodysplastic/myeloproliferative disease				
http://purl.obolibrary.org/obo/MONDO_0020327	obsolete classic Hodgkin lymphoma, nodular sclerosis type				
http://purl.obolibrary.org/obo/MONDO_0020328	obsolete classic Hodgkin lymphoma, mixed cellularity type				
http://purl.obolibrary.org/obo/MONDO_0020329	obsolete classic Hodgkin lymphoma, lymphocyte-rich type				
http://purl.obolibrary.org/obo/MONDO_0020330	obsolete classic Hodgkin lymphoma, lymphocyte-depleted type				
http://purl.obolibrary.org/obo/MONDO_0020335	obsolete desquamative interstitial pneumonia				
http://purl.obolibrary.org/obo/MONDO_0020350	obsolete Miller-Fisher syndrome				
http://purl.obolibrary.org/obo/MONDO_0020358	obsolete coloboma of optic disk				
http://purl.obolibrary.org/obo/MONDO_0020503	obsolete resistance to thyrotropin-releasing hormone syndrome				
http://purl.obolibrary.org/obo/MONDO_0020534	obsolete farmer's lung				
http://purl.obolibrary.org/obo/MONDO_0020548	obsolete ocular pemphigoid				
http://purl.obolibrary.org/obo/MONDO_0020551	obsolete hydatidiform mole				
http://purl.obolibrary.org/obo/MONDO_0020565	obsolete adenocarcinoma of esophagus				
http://purl.obolibrary.org/obo/MONDO_0020566	obsolete Klatskin tumor				
http://purl.obolibrary.org/obo/MONDO_0021570	obsolete Hauptmann-Thannhauser muscular dystrophy				
http://purl.obolibrary.org/obo/MONDO_0021628	obsolete lacrimal system disease				
http://purl.obolibrary.org/obo/MONDO_0021664	obsolete cervical aortic arch				
http://purl.obolibrary.org/obo/MONDO_0021668	obsolete disorder involving pain				
http://purl.obolibrary.org/obo/MONDO_0024293	obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980				
http://purl.obolibrary.org/obo/MONDO_0024289	obsolete disorder of bilirubin metabolism				
http://purl.obolibrary.org/obo/MONDO_0024597	obsolete CD3epsilon deficiency				
http://purl.obolibrary.org/obo/MONDO_0043187	obsolete pulmonary artery agenesis				
http://purl.obolibrary.org/obo/MONDO_0056821	obsolete bronchiolitis obliterans organizing pneumonia				
http://purl.obolibrary.org/obo/MONDO_0044975	obsolete disease of transporter activity				
http://purl.obolibrary.org/obo/MONDO_0024657	obsolete macrocystic neurilemmoma				
http://purl.obolibrary.org/obo/MONDO_0024812	obsolete MONDO:0024812				
http://purl.obolibrary.org/obo/MONDO_0029042	obsolete ureteropelvic junction obstruction				
http://purl.obolibrary.org/obo/MONDO_0044214	obsolete androstenone, ability to smell				
http://purl.obolibrary.org/obo/MONDO_0044215	obsolete arm folding preference				
http://purl.obolibrary.org/obo/MONDO_0044216	obsolete artichoke, modification of taste by				
http://purl.obolibrary.org/obo/MONDO_0044217	obsolete asparagus, specific smell hypersensitivity				
http://purl.obolibrary.org/obo/MONDO_0044218	obsolete beeturia				
http://purl.obolibrary.org/obo/MONDO_0044220	obsolete blood group, 1 system				
http://purl.obolibrary.org/obo/MONDO_0044221	obsolete blood group--lutheran inhibitor				
http://purl.obolibrary.org/obo/MONDO_0044222	obsolete blood group, p1pk system				
http://purl.obolibrary.org/obo/MONDO_0044223	obsolete radin blood group antigen				
http://purl.obolibrary.org/obo/MONDO_0044224	obsolete apocrine gland secretion, variation 1n				
http://purl.obolibrary.org/obo/MONDO_0044225	obsolete creatine kinase, brain type, ectopic expression of				
http://purl.obolibrary.org/obo/MONDO_0044227	obsolete dimples, facial				
http://purl.obolibrary.org/obo/MONDO_0044229	obsolete epiblepharon of lower 51d				
http://purl.obolibrary.org/obo/MONDO_0044230	obsolete epiblepharon of upper 51d				
http://purl.obolibrary.org/obo/MONDO_0044231	obsolete eyebrow, whorl 1n				
http://purl.obolibrary.org/obo/MONDO_0044232	obsolete fingers, relative length of				
http://purl.obolibrary.org/obo/MONDO_0044233	obsolete hair whorl				
http://purl.obolibrary.org/obo/MONDO_0044234	obsolete hrm2				
http://purl.obolibrary.org/obo/MONDO_0044235	obsolete hsr				
http://purl.obolibrary.org/obo/MONDO_0044237	obsolete hypercholesterolemia suppressor				
http://purl.obolibrary.org/obo/MONDO_0044238	obsolete lunulae of fingernails				
http://purl.obolibrary.org/obo/MONDO_0044239	obsolete median-ulnar nerve communications				
http://purl.obolibrary.org/obo/MONDO_0044241	obsolete mydriatic response to pharmacologic agents				
http://purl.obolibrary.org/obo/MONDO_0044242	obsolete mydriasis, congenital				
http://purl.obolibrary.org/obo/MONDO_0044243	obsolete nail high-sulfur protein				
http://purl.obolibrary.org/obo/MONDO_0044244	obsolete nail low-sulfur protein				
http://purl.obolibrary.org/obo/MONDO_0044245	obsolete nailbeds, pigmentation of				
http://purl.obolibrary.org/obo/MONDO_0044247	obsolete palmomental reflex				
http://purl.obolibrary.org/obo/MONDO_0044249	obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1				
http://purl.obolibrary.org/obo/MONDO_0044250	obsolete tongue curling, folding, or rolling				
http://purl.obolibrary.org/obo/MONDO_0044251	obsolete australia antigen				
http://purl.obolibrary.org/obo/MONDO_0044252	obsolete skin/hair/eye pigmentation, variation in, 6				
http://purl.obolibrary.org/obo/MONDO_0044253	obsolete dermatoglyphics--palmar triradius d, absence of				
http://purl.obolibrary.org/obo/MONDO_0044254	obsolete dermatoglyphics--hypothenar radial arch				
http://purl.obolibrary.org/obo/MONDO_0044256	obsolete skin/hair/eye pigmentation, variation in, 5				
http://purl.obolibrary.org/obo/MONDO_0044258	obsolete methane production				
http://purl.obolibrary.org/obo/MONDO_0044260	obsolete ec1				
http://purl.obolibrary.org/obo/MONDO_0044261	obsolete menoq1				
http://purl.obolibrary.org/obo/MONDO_0044262	obsolete cyanide, inability to smell				
http://purl.obolibrary.org/obo/MONDO_0044264	obsolete radial loop, plain, on right index finger				
http://purl.obolibrary.org/obo/MONDO_0044265	obsolete tooth size				
http://purl.obolibrary.org/obo/MONDO_0044267	obsolete gcy				
http://purl.obolibrary.org/obo/MONDO_0044268	obsolete transsexuality				
http://purl.obolibrary.org/obo/MONDO_0044270	obsolete bilirubin, serum level of, quantitative trait locus 1				
http://purl.obolibrary.org/obo/MONDO_0044271	obsolete bone mineral density quantitative trait locus 1				
http://purl.obolibrary.org/obo/MONDO_0044272	obsolete body mass index quantitative trait locus 9				
http://purl.obolibrary.org/obo/MONDO_0044273	obsolete hypertension, diastolic, resistance to				
http://purl.obolibrary.org/obo/MONDO_0044275	obsolete carotid intimal medial thickness 1				
http://purl.obolibrary.org/obo/MONDO_0044276	obsolete skin/hair/eye pigmentation, variation in, 11				
http://purl.obolibrary.org/obo/MONDO_0044277	obsolete uric acid concentration, serum, quantitative trait locus 4				
http://purl.obolibrary.org/obo/MONDO_0044279	obsolete bone mineral density quantitative trait locus 15				
http://purl.obolibrary.org/obo/MONDO_0044280	obsolete glycerol quantitative trait locus				
http://purl.obolibrary.org/obo/MONDO_0044283	obsolete body mass index quantitative trait locus 18				
http://purl.obolibrary.org/obo/MONDO_0044354	obsolete Rosai-Dorfman disease				
http://purl.obolibrary.org/obo/MONDO_0044618	obsolete CLCN4-related X-linked intellectual disability syndrome				
http://purl.obolibrary.org/obo/MONDO_0044630	obsolete rere-related neurodevelopmental syndrome				
http://purl.obolibrary.org/obo/MONDO_0044636	obsolete rare hyperkinetic movement disorder				
http://purl.obolibrary.org/obo/MONDO_0044652	obsolete optic atrophy-peripheral neuropathy-developmental delay syndrome				
http://purl.obolibrary.org/obo/MONDO_0044655	obsolete c12orf65-related combined oxidative phosphorylation defect				
http://purl.obolibrary.org/obo/MONDO_0044680	obsolete short rib-polydactyly syndrome type 5				
http://purl.obolibrary.org/obo/MONDO_0044683	obsolete limbic encephalitis with neurexin-3 antibodies				
http://purl.obolibrary.org/obo/MONDO_0044684	obsolete tuberculous meningitis				
http://purl.obolibrary.org/obo/MONDO_0044715	obsolete metopic ridging-ptosis-facial dysmorphism syndrome				
http://purl.obolibrary.org/obo/MONDO_0044716	obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome				
http://purl.obolibrary.org/obo/MONDO_0044747	obsolete human anaplasmosis				
http://purl.obolibrary.org/obo/MONDO_0044766	obsolete Marfan Syndrome 3				
http://purl.obolibrary.org/obo/MONDO_0044790	obsolete congenital melanocytic nevus				
http://purl.obolibrary.org/obo/MONDO_0044808	obsolete early onset primary dystonia				
http://purl.obolibrary.org/obo/MONDO_0044978	obsolete disease of cell nucleus				
http://purl.obolibrary.org/obo/MONDO_0045029	obsolete Deuteromycetes infectious disease				
http://purl.obolibrary.org/obo/MONDO_0045031	obsolete infectious diarrheal disease				
http://purl.obolibrary.org/obo/MONDO_0054749	obsolete body mass index quantitative trait locus 19				
http://purl.obolibrary.org/obo/MONDO_0060593	obsolete actn3 deficiency				
http://purl.obolibrary.org/obo/MONDO_0060649	obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies				
http://purl.obolibrary.org/obo/MONDO_0060712	obsolete developmental delay, intellectual disability, obesity, and dysmorphic features				
http://purl.obolibrary.org/obo/MONDO_0060722	obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities				
http://purl.obolibrary.org/obo/MONDO_0100005	obsolete primary mast cell activation syndrome				
http://purl.obolibrary.org/obo/MONDO_0100027	obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus				
http://purl.obolibrary.org/obo/MONDO_0100031	obsolete adolescent/adult onset autosomal dominant epilepsy with auditory features				
http://purl.obolibrary.org/obo/MONDO_0100032	obsolete familial temporal lobe epilepsy syndrome				
http://purl.obolibrary.org/obo/CL_0017505	obsolete increased nucleus size				
http://purl.obolibrary.org/obo/MONDO_0957316	obsolete epidermolytic hyperkeratosis				
http://purl.obolibrary.org/obo/MONDO_0957319	obsolete pseudohypoaldosteronism, type I				
http://purl.obolibrary.org/obo/PATO_0001291	obsolete electromagnetic (EM) radiation quality				
http://purl.obolibrary.org/obo/ENVO_00002297	obsolete environmental feature				
http://purl.obolibrary.org/obo/NCIT_C12219	Anatomic Structure, System, or Substance				
http://purl.obolibrary.org/obo/NCIT_C12913	Abnormal Cell				
http://purl.obolibrary.org/obo/NCIT_C17828	Biological Process				
http://purl.obolibrary.org/obo/NCIT_C43431	Activity				
http://purl.obolibrary.org/obo/NCIT_C7057	Disease, Disorder or Finding				
http://purl.obolibrary.org/obo/MONDO_0021007	obsolete stage of disease				
http://purl.obolibrary.org/obo/MONDO_0000016	obsolete coronary heart disease				
http://purl.obolibrary.org/obo/MONDO_0000048	obsolete immunoglobulin A deficiency				
http://purl.obolibrary.org/obo/MONDO_0000168	obsolete mental retardation, X-linked, nonsyndromic				
http://purl.obolibrary.org/obo/MONDO_0000215	obsolete epilepsy, familial focal, with variable foci				
http://purl.obolibrary.org/obo/MONDO_0000228	obsolete Astrakhan spotted fever				
http://purl.obolibrary.org/obo/MONDO_0000237	obsolete erysipeloid				
http://purl.obolibrary.org/obo/MONDO_0000260	obsolete Kartagener syndrome				
http://purl.obolibrary.org/obo/MONDO_0000272	obsolete autoimmune polyendocrine syndrome type 2				
http://purl.obolibrary.org/obo/MONDO_0000289	obsolete selective IgM deficiency disease				
http://purl.obolibrary.org/obo/MONDO_0000347	obsolete adult T-cell leukemia/lymphoma				
http://purl.obolibrary.org/obo/MONDO_0000348	obsolete posterior polar cataract				
http://purl.obolibrary.org/obo/MONDO_0000350	obsolete Charcot-Marie-Tooth disease intermediate type				
http://purl.obolibrary.org/obo/MONDO_0000362	obsolete Sensenbrenner syndrome				
http://purl.obolibrary.org/obo/MONDO_0000366	obsolete glycogen storage disease IX				
http://purl.obolibrary.org/obo/MONDO_0000370	obsolete Askin's tumor				
http://purl.obolibrary.org/obo/MONDO_0000388	obsolete anonychia congenita				
http://purl.obolibrary.org/obo/MONDO_0000394	obsolete alcohol-related neurodevelopmental disorder				
http://purl.obolibrary.org/obo/MONDO_0000398	obsolete female breast cancer				
http://purl.obolibrary.org/obo/MONDO_0000399	obsolete dyskinetic cerebral palsy				
http://purl.obolibrary.org/obo/MONDO_0000403	obsolete organ system cancer				
http://purl.obolibrary.org/obo/MONDO_0000404	obsolete cell type cancer				
http://purl.obolibrary.org/obo/MONDO_0000406	obsolete Brown-Vialetto-van Laere syndrome				
http://purl.obolibrary.org/obo/MONDO_0000416	obsolete variable age at onset electroclinical syndrome				
http://purl.obolibrary.org/obo/MONDO_0000417	obsolete early onset absence epilepsy				
http://purl.obolibrary.org/obo/MONDO_0000420	obsolete cerebral folate receptor alpha deficiency				
http://purl.obolibrary.org/obo/MONDO_0000422	obsolete inborn glycogen metabolism disorder				
http://purl.obolibrary.org/obo/MONDO_0000423	obsolete coenzyme Q10 deficiency disease				
http://purl.obolibrary.org/obo/MONDO_0000424	obsolete inborn vitamin B12 deficiency				
http://purl.obolibrary.org/obo/MONDO_0000434	obsolete peripheral T-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0000438	obsolete ataxia with oculomotor apraxia type 2				
http://purl.obolibrary.org/obo/MONDO_0000442	obsolete paramyloidosis				
http://purl.obolibrary.org/obo/MONDO_0000443	obsolete adenylosuccinase lyase deficiency				
http://purl.obolibrary.org/obo/MONDO_0000444	obsolete ARC syndrome				
http://purl.obolibrary.org/obo/MONDO_0000449	obsolete Opitz-GBBB syndrome				
http://purl.obolibrary.org/obo/MONDO_0000475	obsolete pyrimidine metabolic disorder				
http://purl.obolibrary.org/obo/MONDO_0000501	obsolete Jensen syndrome				
http://purl.obolibrary.org/obo/MONDO_0000505	obsolete small cell neuroendocrine carcinoma				
http://purl.obolibrary.org/obo/MONDO_0000528	obsolete MONDO:0000528				
http://purl.obolibrary.org/obo/MONDO_0000529	obsolete MONDO:0000529				
http://purl.obolibrary.org/obo/MONDO_0000535	obsolete tonsil squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0000537	obsolete gastrointestinal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0000538	obsolete spindle epithelial tumor with thymus-like differentiation tumor				
http://purl.obolibrary.org/obo/MONDO_0000542	obsolete duodenum adenoma				
http://purl.obolibrary.org/obo/MONDO_0000547	obsolete ovarian serous carcinoma				
http://purl.obolibrary.org/obo/MONDO_0000557	obsolete hereditary ataxia				
http://purl.obolibrary.org/obo/MONDO_0000559	obsolete MONDO:0000559				
http://purl.obolibrary.org/obo/MONDO_0000561	obsolete spinocerebellar ataxia type 16				
http://purl.obolibrary.org/obo/MONDO_0000566	obsolete substance withdrawal disorder				
http://purl.obolibrary.org/obo/MONDO_0000570	obsolete severe combined immunodeficiency due to artemis deficiency				
http://purl.obolibrary.org/obo/MONDO_0000571	obsolete CD3zeta deficiency				
http://purl.obolibrary.org/obo/MONDO_0000574	obsolete CD45 deficiency				
http://purl.obolibrary.org/obo/MONDO_0000575	obsolete MONDO:0000575				
http://purl.obolibrary.org/obo/MONDO_0000576	obsolete CD3delta deficiency				
http://purl.obolibrary.org/obo/MONDO_0000578	obsolete CD3gamma deficiency				
http://purl.obolibrary.org/obo/MONDO_0000579	obsolete coronin-1A deficiency				
http://purl.obolibrary.org/obo/MONDO_0000580	obsolete CD40 ligand deficiency				
http://purl.obolibrary.org/obo/MONDO_0000581	obsolete lambda 5 deficiency				
http://purl.obolibrary.org/obo/MONDO_0000584	obsolete B cell linker protein deficiency				
http://purl.obolibrary.org/obo/MONDO_0000593	obsolete autoimmune disease of skin and connective tissue				
http://purl.obolibrary.org/obo/MONDO_0000604	obsolete autonomic peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0000609	obsolete sideroblastic anemia with spinocerebellar ataxia				
http://purl.obolibrary.org/obo/MONDO_0000617	obsolete Her2-receptor positive breast cancer				
http://purl.obolibrary.org/obo/MONDO_0000619	obsolete triple-receptor negative breast cancer				
http://purl.obolibrary.org/obo/MONDO_0000622	obsolete cell type benign neoplasm				
http://purl.obolibrary.org/obo/MONDO_0000623	obsolete organ system benign neoplasm				
http://purl.obolibrary.org/obo/MONDO_0000638	obsolete benign glioma				
http://purl.obolibrary.org/obo/MONDO_0000642	obsolete brain meningioma				
http://purl.obolibrary.org/obo/MONDO_0000656	obsolete alpha chain disease				
http://purl.obolibrary.org/obo/MONDO_0000657	obsolete gamma heavy chain disease				
http://purl.obolibrary.org/obo/MONDO_0000658	obsolete mu chain disease				
http://purl.obolibrary.org/obo/MONDO_0000689	obsolete survival motor neuron spinal muscular atrophy				
http://purl.obolibrary.org/obo/MONDO_0000691	obsolete pain disorder				
http://purl.obolibrary.org/obo/MONDO_0000711	obsolete amyotrophic lateral sclerosis type 13				
http://purl.obolibrary.org/obo/MONDO_0000712	obsolete FTDALS				
http://purl.obolibrary.org/obo/MONDO_0000713	obsolete Balo concentric sclerosis				
http://purl.obolibrary.org/obo/MONDO_0000720	obsolete basal ganglia calcification				
http://purl.obolibrary.org/obo/MONDO_0000730	obsolete pontocerebellar hypoplasia				
http://purl.obolibrary.org/obo/MONDO_0000738	obsolete syndromic X-linked intellectual disability				
http://purl.obolibrary.org/obo/MONDO_0000742	obsolete persistent generalized lymphadenopathy				
http://purl.obolibrary.org/obo/MONDO_0000765	obsolete corneal stromal dystrophy				
http://purl.obolibrary.org/obo/MONDO_0000792	obsolete zebrafish allergy				
http://purl.obolibrary.org/obo/MONDO_0000817	obsolete MONDO:0000817				
http://purl.obolibrary.org/obo/MONDO_0000821	obsolete MONDO:0000821				
http://purl.obolibrary.org/obo/MONDO_0000823	obsolete MONDO:0000823				
http://purl.obolibrary.org/obo/MONDO_0000826	obsolete syndromic X-linked intellectual disability Cabezas type				
http://purl.obolibrary.org/obo/MONDO_0000835	obsolete ischemic bone disease				
http://purl.obolibrary.org/obo/MONDO_0000838	obsolete chromosomal disease				
http://purl.obolibrary.org/obo/MONDO_0000841	obsolete metaphyseal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000842	obsolete MONDO:0000842				
http://purl.obolibrary.org/obo/MONDO_0000843	obsolete MONDO:0000843				
http://purl.obolibrary.org/obo/MONDO_0000844	obsolete spondyloepimetaphyseal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000856	obsolete Charcot-Marie-Tooth disease type 6				
http://purl.obolibrary.org/obo/MONDO_0000865	obsolete congenital fiber-type disproportion				
http://purl.obolibrary.org/obo/MONDO_0000866	obsolete hereditary myoglobinuria				
http://purl.obolibrary.org/obo/MONDO_0000868	obsolete mitochondrial DNA depletion syndrome 6				
http://purl.obolibrary.org/obo/MONDO_0000869	obsolete congenital fibrosis of the extraocular muscles				
http://purl.obolibrary.org/obo/MONDO_0000881	obsolete myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1				
http://purl.obolibrary.org/obo/MONDO_0000882	obsolete myeloid and lymphoid neoplasms associated with PDGFRA rearrangement				
http://purl.obolibrary.org/obo/MONDO_0000883	obsolete myeloid neoplasms associated with PDGFRB rearrangement				
http://purl.obolibrary.org/obo/MONDO_0000884	obsolete myeloid and lymphoid neoplasms associated with FGFR1 abnormalities				
http://purl.obolibrary.org/obo/MONDO_0000899	obsolete malignant epithelioid hemangioendothelioma				
http://purl.obolibrary.org/obo/MONDO_0000907	obsolete amelogenesis imperfecta type 1C				
http://purl.obolibrary.org/obo/MONDO_0000915	obsolete MONDO:0000915				
http://purl.obolibrary.org/obo/MONDO_0000932	obsolete skin amelanotic melanoma				
http://purl.obolibrary.org/obo/MONDO_0000982	obsolete Brown's tendon sheath syndrome				
http://purl.obolibrary.org/obo/MONDO_0001002	obsolete pulmonary siderosis				
http://purl.obolibrary.org/obo/MONDO_0001010	obsolete natural killer cell leukemia				
http://purl.obolibrary.org/obo/MONDO_0001012	obsolete breast fibroadenosis				
http://purl.obolibrary.org/obo/MONDO_0001013	obsolete fibrosclerosis of breast				
http://purl.obolibrary.org/obo/MONDO_0001018	obsolete lymphoblastic leukemia				
http://purl.obolibrary.org/obo/MONDO_0001058	obsolete gastric fundus cancer				
http://purl.obolibrary.org/obo/MONDO_0001070	obsolete adrenoleukodystrophy				
http://purl.obolibrary.org/obo/MONDO_0001107	obsolete cerebral lipidosis				
http://purl.obolibrary.org/obo/MONDO_0001189	obsolete esophageal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0001193	obsolete chorioretinal scar				
http://purl.obolibrary.org/obo/MONDO_0001201	obsolete MONDO:0001201				
http://purl.obolibrary.org/obo/MONDO_0001253	obsolete solar retinopathy				
http://purl.obolibrary.org/obo/MONDO_0001254	obsolete peripheral scars of retina				
http://purl.obolibrary.org/obo/MONDO_0001289	obsolete endometriosis of ovary				
http://purl.obolibrary.org/obo/MONDO_0001306	obsolete recurrent corneal erosion				
http://purl.obolibrary.org/obo/MONDO_0001321	obsolete scleral staphyloma				
http://purl.obolibrary.org/obo/MONDO_0001333	obsolete Patau syndrome				
http://purl.obolibrary.org/obo/MONDO_0001346	obsolete distal muscular dystrophy				
http://purl.obolibrary.org/obo/MONDO_0001359	obsolete Kohler disease				
http://purl.obolibrary.org/obo/MONDO_0001389	obsolete congenital coronary artery anomaly				
http://purl.obolibrary.org/obo/MONDO_0001432	obsolete sodoku disease				
http://purl.obolibrary.org/obo/MONDO_0001467	obsolete specific bursitis often of occupational origin				
http://purl.obolibrary.org/obo/MONDO_0001524	obsolete globe disease				
http://purl.obolibrary.org/obo/MONDO_0001545	obsolete von willebrand disease				
http://purl.obolibrary.org/obo/MONDO_0001578	obsolete hernia of ovary and fallopian tube				
http://purl.obolibrary.org/obo/MONDO_0001587	obsolete mucopolysaccharidosis type 4				
http://purl.obolibrary.org/obo/MONDO_0001589	obsolete vaginal enterocele				
http://purl.obolibrary.org/obo/MONDO_0001599	obsolete Mikulicz disease				
http://purl.obolibrary.org/obo/MONDO_0001605	obsolete MONDO:0001605				
http://purl.obolibrary.org/obo/MONDO_0001659	obsolete MONDO:0001659				
http://purl.obolibrary.org/obo/MONDO_0001662	obsolete right bundle branch block				
http://purl.obolibrary.org/obo/MONDO_0001679	obsolete crater-like holes of optic disk				
http://purl.obolibrary.org/obo/MONDO_0001726	obsolete childhood disintegrative disease				
http://purl.obolibrary.org/obo/MONDO_0001859	obsolete algoneurodystrophy				
http://purl.obolibrary.org/obo/MONDO_0001865	obsolete autoimmune polyendocrinopathy syndrome				
http://purl.obolibrary.org/obo/MONDO_0001872	obsolete vestibular nystagmus				
http://purl.obolibrary.org/obo/MONDO_0001932	obsolete atrophic vulva				
http://purl.obolibrary.org/obo/MONDO_0001937	obsolete LEOPARD syndrome				
http://purl.obolibrary.org/obo/MONDO_0001948	obsolete Riedel's fibrosing thyroiditis				
http://purl.obolibrary.org/obo/MONDO_0001960	obsolete Alpers syndrome				
http://purl.obolibrary.org/obo/MONDO_0001968	obsolete 46 XY gonadal dysgenesis				
http://purl.obolibrary.org/obo/MONDO_0001981	obsolete cholesterol ester storage disease				
http://purl.obolibrary.org/obo/MONDO_0002001	obsolete disease of cellular proliferation				
http://purl.obolibrary.org/obo/MONDO_0002003	obsolete papilledema				
http://purl.obolibrary.org/obo/MONDO_0002007	obsolete VACTERL association				
http://purl.obolibrary.org/obo/MONDO_0002016	obsolete benign familial neonatal epilepsy				
http://purl.obolibrary.org/obo/MONDO_0002053	obsolete hypoglycemic coma				
http://purl.obolibrary.org/obo/MONDO_0002059	obsolete breast duct papilloma				
http://purl.obolibrary.org/obo/MONDO_0002080	obsolete congenital ichthyosiform erythroderma				
http://purl.obolibrary.org/obo/MONDO_0002084	obsolete neuroectodermal tumor				
http://purl.obolibrary.org/obo/MONDO_0002144	obsolete hyperuricemia				
http://purl.obolibrary.org/obo/MONDO_0002208	obsolete vulva adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0002210	obsolete vulva squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002228	obsolete malignant ovarian surface epithelial-stromal neoplasm				
http://purl.obolibrary.org/obo/MONDO_0002231	obsolete malignant ovarian germ cell neoplasm				
http://purl.obolibrary.org/obo/MONDO_0002264	obsolete atrophy of prostate				
http://purl.obolibrary.org/obo/MONDO_0002276	obsolete arteriosclerotic cardiovascular disease				
http://purl.obolibrary.org/obo/MONDO_0002324	obsolete enamel erosion				
http://purl.obolibrary.org/obo/MONDO_0002335	obsolete chronic inflammatory demyelinating polyneuritis				
http://purl.obolibrary.org/obo/MONDO_0002336	obsolete inflammatory and toxic neuropathy				
http://purl.obolibrary.org/obo/MONDO_0002346	obsolete malignant histiocytic disease				
http://purl.obolibrary.org/obo/MONDO_0002364	obsolete Wolffian duct adenoma				
http://purl.obolibrary.org/obo/MONDO_0002431	obsolete nonspecific interstitial pneumonia				
http://purl.obolibrary.org/obo/MONDO_0002454	obsolete thyroid adenoma				
http://purl.obolibrary.org/obo/MONDO_0002456	obsolete cervix carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002484	obsolete breast ductal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002497	obsolete food allergy				
http://purl.obolibrary.org/obo/MONDO_0002498	obsolete glioblastoma multiforme				
http://purl.obolibrary.org/obo/MONDO_0002504	obsolete grade III astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0002521	obsolete multiple symmetrical lipomatosis				
http://purl.obolibrary.org/obo/MONDO_0002524	obsolete hyperlipoproteinemia type III				
http://purl.obolibrary.org/obo/MONDO_0002530	obsolete malignant spindle cell melanoma				
http://purl.obolibrary.org/obo/MONDO_0002557	obsolete schwannomatosis				
http://purl.obolibrary.org/obo/MONDO_0002589	obsolete thymoma type AB				
http://purl.obolibrary.org/obo/MONDO_0002591	obsolete dendritic cell thymoma				
http://purl.obolibrary.org/obo/MONDO_0002600	obsolete mixed germ cell cancer				
http://purl.obolibrary.org/obo/MONDO_0002608	obsolete gangliosidosis GM2				
http://purl.obolibrary.org/obo/MONDO_0002609	obsolete gangliosidosis GM1				
http://purl.obolibrary.org/obo/MONDO_0002611	obsolete benign epilepsy with centrotemporal spikes				
http://purl.obolibrary.org/obo/MONDO_0002663	obsolete systemic mastocytosis				
http://purl.obolibrary.org/obo/MONDO_0002686	obsolete mast-cell sarcoma				
http://purl.obolibrary.org/obo/MONDO_0002699	obsolete pancreatic ductal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002700	obsolete epithelioid trophoblastic tumor				
http://purl.obolibrary.org/obo/MONDO_0002733	obsolete MONDO:0002733				
http://purl.obolibrary.org/obo/MONDO_0002743	obsolete prostate colloid adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0002753	obsolete mucinous stomach adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0002773	obsolete MONDO:0002773				
http://purl.obolibrary.org/obo/MONDO_0002780	obsolete MONDO:0002780				
http://purl.obolibrary.org/obo/MONDO_0002793	obsolete medullomyoblastoma				
http://purl.obolibrary.org/obo/MONDO_0002799	obsolete nodular medulloblastoma				
http://purl.obolibrary.org/obo/MONDO_0002818	obsolete adrenal cortical adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0002823	obsolete thyroid gland medullary carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002825	obsolete Meige syndrome				
http://purl.obolibrary.org/obo/MONDO_0002827	obsolete urinary system cancer				
http://purl.obolibrary.org/obo/MONDO_0002830	obsolete ovary transitional cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002835	obsolete papillary transitional carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002838	obsolete spindle cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002839	obsolete leather-bottle stomach				
http://purl.obolibrary.org/obo/MONDO_0002873	obsolete testicular germ cell tumor non-seminomatous				
http://purl.obolibrary.org/obo/MONDO_0002890	obsolete gastrointestinal adenoma				
http://purl.obolibrary.org/obo/MONDO_0002891	obsolete gastrointestinal neuroendocrine benign tumor				
http://purl.obolibrary.org/obo/MONDO_0002893	obsolete chondroid chordoma				
http://purl.obolibrary.org/obo/MONDO_0002895	obsolete dentinogenesis imperfecta				
http://purl.obolibrary.org/obo/MONDO_0002906	obsolete scleroderma				
http://purl.obolibrary.org/obo/MONDO_0002925	obsolete extraosseous Ewing's sarcoma				
http://purl.obolibrary.org/obo/MONDO_0002932	obsolete conjunctival disease				
http://purl.obolibrary.org/obo/MONDO_0002985	obsolete pustulosis of palm and sole				
http://purl.obolibrary.org/obo/MONDO_0002986	obsolete neuromuscular disease				
http://purl.obolibrary.org/obo/MONDO_0003006	obsolete Bartter disease				
http://purl.obolibrary.org/obo/MONDO_0003015	obsolete malignant biphasic mesothelioma				
http://purl.obolibrary.org/obo/MONDO_0003018	obsolete myotonic disease				
http://purl.obolibrary.org/obo/MONDO_0003020	obsolete orofaciodigital syndrome				
http://purl.obolibrary.org/obo/MONDO_0003048	obsolete type C thymoma				
http://purl.obolibrary.org/obo/MONDO_0003074	obsolete familial retinoblastoma				
http://purl.obolibrary.org/obo/MONDO_0003106	obsolete verrucous keratotic hemangioma				
http://purl.obolibrary.org/obo/MONDO_0003114	obsolete bone giant cell sarcoma				
http://purl.obolibrary.org/obo/MONDO_0003119	obsolete histiocytoid hemangioma				
http://purl.obolibrary.org/obo/MONDO_0003127	obsolete embryoma				
http://purl.obolibrary.org/obo/MONDO_0003148	obsolete SM-AHNMD				
http://purl.obolibrary.org/obo/MONDO_0003151	obsolete movement disease				
http://purl.obolibrary.org/obo/MONDO_0003161	obsolete benign ependymoma				
http://purl.obolibrary.org/obo/MONDO_0003183	obsolete trachea adenoid cystic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003201	obsolete esophagus adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003207	obsolete eccrine adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003221	obsolete sclerosing hemangioma				
http://purl.obolibrary.org/obo/MONDO_0003230	obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor				
http://purl.obolibrary.org/obo/MONDO_0003309	obsolete pleural cancer				
http://purl.obolibrary.org/obo/MONDO_0003323	obsolete MONDO:0003323				
http://purl.obolibrary.org/obo/MONDO_0003324	obsolete stromal predominant kidney Wilms' tumor				
http://purl.obolibrary.org/obo/MONDO_0003338	obsolete von Economo disease				
http://purl.obolibrary.org/obo/MONDO_0003375	obsolete uterus leiomyosarcoma				
http://purl.obolibrary.org/obo/MONDO_0003380	obsolete endometrial clear cell adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003407	obsolete ovarian yolk sac tumor				
http://purl.obolibrary.org/obo/MONDO_0003436	obsolete lung oat cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003456	obsolete bile duct mucinous cystic neoplasm				
http://purl.obolibrary.org/obo/MONDO_0003484	obsolete penis squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003485	obsolete colon squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003491	obsolete rectum squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003520	obsolete malignant acrospiroma				
http://purl.obolibrary.org/obo/MONDO_0003530	obsolete aggressive digital papillary adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003540	obsolete acute T cell leukemia				
http://purl.obolibrary.org/obo/MONDO_0003547	obsolete histiocytic and dendritic cell cancer				
http://purl.obolibrary.org/obo/MONDO_0003552	obsolete adenosquamous gallbladder carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003560	obsolete adenosquamous pancreas carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003571	obsolete labyrinthine dysfunction				
http://purl.obolibrary.org/obo/MONDO_0003576	obsolete MONDO:0003576				
http://purl.obolibrary.org/obo/MONDO_0003580	obsolete embryonal testis carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003597	obsolete MONDO:0003597				
http://purl.obolibrary.org/obo/MONDO_0003613	obsolete diffuse peritoneal leiomyomatosis				
http://purl.obolibrary.org/obo/MONDO_0003623	obsolete pancreatic acinar cell adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003625	obsolete MONDO:0003625				
http://purl.obolibrary.org/obo/MONDO_0003629	obsolete uterine corpus serous adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003657	obsolete methotrexate-associated lymphoproliferation				
http://purl.obolibrary.org/obo/MONDO_0003662	obsolete endometrioid ovary carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003667	obsolete spermatocytoma				
http://purl.obolibrary.org/obo/MONDO_0003703	obsolete uterine corpus leiomyomatosis				
http://purl.obolibrary.org/obo/MONDO_0003794	obsolete mediastinal neurilemmoma				
http://purl.obolibrary.org/obo/MONDO_0003797	obsolete inflammatory MFH				
http://purl.obolibrary.org/obo/MONDO_0003804	obsolete blood protein disease				
http://purl.obolibrary.org/obo/MONDO_0003814	obsolete gastric diffuse adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003817	obsolete peritoneal serous papillary adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003833	obsolete severe combined immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0003838	obsolete malignant ACTH producing neoplasm of pituitary gland				
http://purl.obolibrary.org/obo/MONDO_0003855	obsolete immature teratoma of ovary				
http://purl.obolibrary.org/obo/MONDO_0003914	obsolete inborn purine-pyrimidine metabolic disorder				
http://purl.obolibrary.org/obo/MONDO_0003920	obsolete gastric small cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003949	obsolete cervical adenoma malignum				
http://purl.obolibrary.org/obo/MONDO_0003961	obsolete cervical large cell neuroendocrine carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003981	obsolete cervix small cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003986	obsolete MONDO:0003986				
http://purl.obolibrary.org/obo/MONDO_0004003	obsolete pancreatic solid pseudopapillary carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004025	obsolete spinal cord embryonal tumor, not otherwise specified				
http://purl.obolibrary.org/obo/MONDO_0004031	obsolete ovary mixed epithelial carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004033	obsolete familial ovarian carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004036	obsolete MONDO:0004036				
http://purl.obolibrary.org/obo/MONDO_0004068	obsolete disease of anatomical entity				
http://purl.obolibrary.org/obo/MONDO_0004084	obsolete uveal epithelioid cell melanoma				
http://purl.obolibrary.org/obo/MONDO_0004097	obsolete lipid-rich breast carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004113	obsolete HCL-v				
http://purl.obolibrary.org/obo/MONDO_0004115	obsolete gallbladder small cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004137	obsolete MONDO:0004137				
http://purl.obolibrary.org/obo/MONDO_0004154	obsolete central nervous system embryonal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004157	obsolete pancreatic mucinous cystadenoma				
http://purl.obolibrary.org/obo/MONDO_0004167	obsolete lung clear cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004228	obsolete hypogonadotropism				
http://purl.obolibrary.org/obo/MONDO_0004268	obsolete subareolar duct papillomatosis				
http://purl.obolibrary.org/obo/MONDO_0004284	obsolete malignant cystic nephroma				
http://purl.obolibrary.org/obo/MONDO_0004300	obsolete intracortical osteogenic sarcoma				
http://purl.obolibrary.org/obo/MONDO_0004342	obsolete osteoclast-like giant cell neoplasm of the pancreas				
http://purl.obolibrary.org/obo/MONDO_0004347	obsolete MONDO:0004347				
http://purl.obolibrary.org/obo/MONDO_0004388	obsolete testicular spermatocytic seminoma				
http://purl.obolibrary.org/obo/MONDO_0004395	obsolete mixed oligodendroglioma-astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0004399	obsolete epithelial malignant thymoma				
http://purl.obolibrary.org/obo/MONDO_0004424	obsolete familial glomangioma				
http://purl.obolibrary.org/obo/MONDO_0004434	obsolete glomangiomyoma				
http://purl.obolibrary.org/obo/MONDO_0004437	obsolete gastric signet ring cell adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0004480	obsolete pancreatic invasive intraductal papillary-mucinous carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004490	obsolete gestational uterine corpus choriocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0004515	obsolete olfactory neural tumor				
http://purl.obolibrary.org/obo/MONDO_0004527	obsolete congenital granular cell tumor				
http://purl.obolibrary.org/obo/MONDO_0004536	obsolete villoglandular variant cervical mucinous adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0004553	obsolete extrinsic allergic alveolitis				
http://purl.obolibrary.org/obo/MONDO_0004581	obsolete localized scleroderma				
http://purl.obolibrary.org/obo/MONDO_0004587	obsolete hereditary night blindness				
http://purl.obolibrary.org/obo/MONDO_0004589	obsolete hereditary retinal dystrophy				
http://purl.obolibrary.org/obo/MONDO_0004590	obsolete fundus dystrophy				
http://purl.obolibrary.org/obo/MONDO_0004595	obsolete acute pulmonary heart disease				
http://purl.obolibrary.org/obo/MONDO_0004623	obsolete prostate carcinoma in situ				
http://purl.obolibrary.org/obo/MONDO_0004626	obsolete Hodgkin's paragranuloma				
http://purl.obolibrary.org/obo/MONDO_0004655	obsolete acute megakaryoblastic leukemia				
http://purl.obolibrary.org/obo/MONDO_0004721	obsolete liver neoplasm				
http://purl.obolibrary.org/obo/MONDO_0004738	obsolete histidine metabolism disease				
http://purl.obolibrary.org/obo/MONDO_0004761	obsolete urethral diverticulum				
http://purl.obolibrary.org/obo/MONDO_0004771	obsolete Fuchs' heterochromic uveitis				
http://purl.obolibrary.org/obo/MONDO_0004807	obsolete Loeffler syndrome				
http://purl.obolibrary.org/obo/MONDO_0004809	obsolete cannabis abuse				
http://purl.obolibrary.org/obo/MONDO_0004814	obsolete vascular skin disease				
http://purl.obolibrary.org/obo/MONDO_0004818	obsolete benign neurilemmoma				
http://purl.obolibrary.org/obo/MONDO_0004823	obsolete dextrocardia				
http://purl.obolibrary.org/obo/MONDO_0004906	obsolete hereditary fructose intolerance syndrome				
http://purl.obolibrary.org/obo/MONDO_0004914	obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm				
http://purl.obolibrary.org/obo/MONDO_0004915	obsolete MONDO:0004915				
http://purl.obolibrary.org/obo/MONDO_0004916	obsolete MONDO:0004916				
http://purl.obolibrary.org/obo/MONDO_0004935	obsolete acquired carotenemia				
http://purl.obolibrary.org/obo/MONDO_0004955	obsolete metabolic syndrome				
http://purl.obolibrary.org/obo/MONDO_0004978	obsolete aortic stenosis				
http://purl.obolibrary.org/obo/MONDO_0005022	obsolete ductal breast adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0005024	obsolete emphysema				
http://purl.obolibrary.org/obo/MONDO_0005054	obsolete juvenile dermatomyositis				
http://purl.obolibrary.org/obo/MONDO_0005069	obsolete narcolepsy with cataplexy				
http://purl.obolibrary.org/obo/MONDO_0005123	obsolete Hibiscus chlorotic ringspot virus infection				
http://purl.obolibrary.org/obo/MONDO_0005199	obsolete peripartum cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0005218	obsolete muscular disorder				
http://purl.obolibrary.org/obo/MONDO_0005222	obsolete acute megakaryoblastic leukemia				
http://purl.obolibrary.org/obo/MONDO_0005234	obsolete polymyositis				
http://purl.obolibrary.org/obo/MONDO_0005241	obsolete adrenocortical carcinoma				
http://purl.obolibrary.org/obo/MONDO_0005259	obsolete Asperger syndrome				
http://purl.obolibrary.org/obo/MONDO_0005261	obsolete pervasive developmental disorder - not otherwise specified				
http://purl.obolibrary.org/obo/MONDO_0005263	obsolete unipolar depression				
http://purl.obolibrary.org/obo/MONDO_0005274	obsolete MONDO:0005274				
http://purl.obolibrary.org/obo/MONDO_0005285	obsolete kidney stone				
http://purl.obolibrary.org/obo/MONDO_0005305	obsolete epistaxis				
http://purl.obolibrary.org/obo/MONDO_0005317	obsolete fatty liver				
http://purl.obolibrary.org/obo/MONDO_0005329	obsolete vascular sarcoma				
http://purl.obolibrary.org/obo/MONDO_0005332	obsolete MONDO:0005332				
http://purl.obolibrary.org/obo/MONDO_0005343	obsolete viral human hepatitis				
http://purl.obolibrary.org/obo/MONDO_0005360	obsolete Dupuytren contracture				
http://purl.obolibrary.org/obo/MONDO_0005403	obsolete neonatal systemic lupus erthematosus				
http://purl.obolibrary.org/obo/MONDO_0005409	obsolete variant Creutzfeld Jacob disease				
http://purl.obolibrary.org/obo/MONDO_0005410	obsolete acute graft vs. host disease				
http://purl.obolibrary.org/obo/MONDO_0005421	obsolete infantile hypertrophic pyloric stenosis				
http://purl.obolibrary.org/obo/MONDO_0005427	obsolete vasuclar dementia				
http://purl.obolibrary.org/obo/MONDO_0005442	obsolete type 1 diabetes nephropathy				
http://purl.obolibrary.org/obo/MONDO_0005443	obsolete type 2 diabetes nephropathy				
http://purl.obolibrary.org/obo/MONDO_0005457	obsolete acute stress reaction				
http://purl.obolibrary.org/obo/MONDO_0005472	obsolete congenital heart malformation				
http://purl.obolibrary.org/obo/MONDO_0005474	obsolete non-small cell lung adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0005513	obsolete methylmalonic aciduria and homocystinuria type cblE				
http://purl.obolibrary.org/obo/MONDO_0005529	obsolete methylmalonic aciduria and homocystinuria type cblG				
http://purl.obolibrary.org/obo/MONDO_0005547	obsolete desmoplastic medulloblastoma				
http://purl.obolibrary.org/obo/MONDO_0005548	obsolete malignant rhabdoid tumor				
http://purl.obolibrary.org/obo/MONDO_0005562	obsolete age-related hearing impairment				
http://purl.obolibrary.org/obo/MONDO_0005573	obsolete type II hypersensitivity reaction disease				
http://purl.obolibrary.org/obo/MONDO_0005587	obsolete non-Hodgkins lymphoma				
http://purl.obolibrary.org/obo/MONDO_0005603	obsolete pancreatic tubular adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0005637	obsolete adult-onset Still disease				
http://purl.obolibrary.org/obo/MONDO_0005653	obsolete asbestosis				
http://purl.obolibrary.org/obo/MONDO_0005666	obsolete berylliosis				
http://purl.obolibrary.org/obo/MONDO_0005681	obsolete MONDO:0005681				
http://purl.obolibrary.org/obo/MONDO_0005685	obsolete bullous pemphigoid				
http://purl.obolibrary.org/obo/MONDO_0005686	obsolete Bunyaviridae infectious disease				
http://purl.obolibrary.org/obo/MONDO_0005703	obsolete Churg-Strauss syndrome				
http://purl.obolibrary.org/obo/MONDO_0005713	obsolete MONDO:0005713				
http://purl.obolibrary.org/obo/MONDO_0005727	obsolete cystoisosporiasis				
http://purl.obolibrary.org/obo/MONDO_0005731	obsolete dipetalonemiasis				
http://purl.obolibrary.org/obo/MONDO_0005760	obsolete fibroepithelial neoplasm				
http://purl.obolibrary.org/obo/MONDO_0005840	obsolete mast-cell leukemia				
http://purl.obolibrary.org/obo/MONDO_0005860	obsolete MONDO:0005860				
http://purl.obolibrary.org/obo/MONDO_0005889	obsolete orthomyxoviridae infectious disease				
http://purl.obolibrary.org/obo/MONDO_0005926	obsolete poliomyelitis				
http://purl.obolibrary.org/obo/MONDO_0005930	obsolete postpoliomyelitis syndrome				
http://purl.obolibrary.org/obo/MONDO_0005934	obsolete pyruvate decarboxylase deficiency				
http://purl.obolibrary.org/obo/MONDO_0005948	obsolete Ritter disease				
http://purl.obolibrary.org/obo/MONDO_0005958	obsolete sex cord-stromal tumor				
http://purl.obolibrary.org/obo/MONDO_0005992	obsolete trichinosis				
http://purl.obolibrary.org/obo/MONDO_0006016	obsolete West Nile encephalitis				
http://purl.obolibrary.org/obo/MONDO_0006020	obsolete Zollinger-Ellison syndrome				
http://purl.obolibrary.org/obo/MONDO_0006023	obsolete MONDO:0006023				
http://purl.obolibrary.org/obo/MONDO_0006048	obsolete pancreatic neuroendocrine tumor				
http://purl.obolibrary.org/obo/MONDO_0006051	obsolete postweaning multisystemic wasting syndrome				
http://purl.obolibrary.org/obo/MONDO_0006057	obsolete thymic lymphoma				
http://purl.obolibrary.org/obo/MONDO_0006083	obsolete anaplastic large cell lymphoma, ALK-negative				
http://purl.obolibrary.org/obo/MONDO_0006084	obsolete angioleiomyoma				
http://purl.obolibrary.org/obo/MONDO_0006089	obsolete appendix goblet cell carcinoid				
http://purl.obolibrary.org/obo/MONDO_0006099	obsolete B-cell prolymphocytic leukemia				
http://purl.obolibrary.org/obo/MONDO_0006101	obsolete Bartholin gland squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006113	obsolete bladder small cell neuroendocrine carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006127	obsolete cecum villous adenoma				
http://purl.obolibrary.org/obo/MONDO_0006136	obsolete cervical endometrioid adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0006147	obsolete chronic eosinophilic leukemia, not otherwise specified				
http://purl.obolibrary.org/obo/IAO_8000002	editors ontology module	http://purl.obolibrary.org/obo/IAO_8000000	ontology module	source ontology module	An ontology module that is intended to be directly edited, typically managed in source control, and typically not intended for direct consumption by end-users.
http://purl.obolibrary.org/obo/IAO_8000005	import ontology module	http://purl.obolibrary.org/obo/IAO_8000006	subset ontology module	import file	A subset ontology module that is intended to be imported from another ontology.
http://purl.obolibrary.org/obo/IAO_8000009	single layer subset ontology module	http://purl.obolibrary.org/obo/IAO_8000006	subset ontology module	ribbon subset	A subset ontology that is largely comprised of a single layer or strata in an ontology class hierarchy. The purpose is typically for rolling up for visualization. The classes in the layer need not be disjoint.
http://purl.obolibrary.org/obo/IAO_8000010	exclusion subset ontology module	http://purl.obolibrary.org/obo/IAO_8000006	subset ontology module	antislim	A subset of an ontology that is intended to be excluded for some purpose. For example, a blacklist of classes.
http://purl.obolibrary.org/obo/IAO_8000011	external import ontology module	http://purl.obolibrary.org/obo/IAO_8000005	import ontology module	external import	An imported ontology module that is derived from an external ontology. Derivation methods include the OWLAPI SLME approach.
http://purl.obolibrary.org/obo/IAO_8000012	species subset ontology module	http://purl.obolibrary.org/obo/IAO_8000006	subset ontology module	taxon subset	A subset ontology that is crafted to either include or exclude a taxonomic grouping of species.
http://purl.obolibrary.org/obo/MONDO_0006161	colorectal juvenile polyp	http://purl.obolibrary.org/obo/MONDO_0006258	juvenile polyp		A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.
http://purl.obolibrary.org/obo/MONDO_0006162	colorectal neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0021533	intestinal neuroendocrine tumor G1		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0006163	colorectal serrated adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005008	colorectal adenocarcinoma		A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.
http://purl.obolibrary.org/obo/MONDO_0006164	colorectal sessile serrated adenoma/polyp	http://purl.obolibrary.org/obo/MONDO_0005484	colorectal adenoma		A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability.
http://purl.obolibrary.org/obo/MONDO_0006165	colorectal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0024331	colorectal carcinoma		A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.
http://purl.obolibrary.org/obo/MONDO_0006166	columnar cell hyperplasia of the breast	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.
http://purl.obolibrary.org/obo/MONDO_0006167	combined lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0006169	complex endometrial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.
http://purl.obolibrary.org/obo/MONDO_0006170	conjunctival disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Any disorder of the conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0006172	conjunctival nevus	http://purl.obolibrary.org/obo/MONDO_0006105	benign conjunctival neoplasm		A benign melanocytic neoplasm that arises from the conjunctiva.
http://purl.obolibrary.org/obo/MONDO_0006173	conjunctival squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.
http://purl.obolibrary.org/obo/MONDO_0006174	cortisol-producing adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0003924	adrenal cortex adenoma		An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension.
http://purl.obolibrary.org/obo/MONDO_0006176	cribriform carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006178	dedifferentiated solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0016238	solitary fibrous tumor		A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.
http://purl.obolibrary.org/obo/MONDO_0006179	desmoplastic ameloblastoma	http://purl.obolibrary.org/obo/MONDO_0017795	ameloblastoma		An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands.
http://purl.obolibrary.org/obo/MONDO_0006180	digestive system adenoma	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.
http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006182	digestive system mixed adenoneuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.
http://purl.obolibrary.org/obo/MONDO_0006183	disseminated peritoneal leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003295	leiomyomatosis		A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.
http://purl.obolibrary.org/obo/MONDO_0006184	ductal breast carcinoma in situ and lobular carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004658	breast carcinoma in situ		The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion.
http://purl.obolibrary.org/obo/MONDO_0006186	duodenal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003198	small intestine adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the duodenum.
http://purl.obolibrary.org/obo/MONDO_0006187	duodenal villous adenoma	http://purl.obolibrary.org/obo/MONDO_0021375	tumor of duodenum		A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0006188	EBV-positive T-cell lymphoproliferative disorder of childhood	http://purl.obolibrary.org/obo/MONDO_0005169	neoplasm of mature T-cells or NK-cells		An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.
http://purl.obolibrary.org/obo/MONDO_0006189	eccrine porocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024240	eccrine carcinoma		A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0006190	endolymphatic sac tumor	http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm		An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor.
http://purl.obolibrary.org/obo/MONDO_0006191	endometrial clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005461	endometrium adenocarcinoma		A clear cell adenocarcinoma that involves the endometrium.
http://purl.obolibrary.org/obo/MONDO_0006192	endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005026	endometrioid adenocarcinoma		A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0006193	endometrial hyperplasia without atypia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.
http://purl.obolibrary.org/obo/MONDO_0006195	endometrial polyp	http://purl.obolibrary.org/obo/MONDO_0004701	uterine polyp		A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.
http://purl.obolibrary.org/obo/MONDO_0006196	endometrial serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006003	uterine corpus cancer		A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0006197	endometrial small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002447	endometrial carcinoma		A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically.
http://purl.obolibrary.org/obo/MONDO_0006198	endometrial squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.
http://purl.obolibrary.org/obo/MONDO_0006199	endometrial undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.
http://purl.obolibrary.org/obo/MONDO_0006200	epithelioid cell uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0006486	uveal melanoma		A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.
http://purl.obolibrary.org/obo/MONDO_0006201	ethmoid sinus adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006352	paranasal sinus adenoid cystic carcinoma		An adenoid cystic carcinoma that affects the ethmoid sinus.
http://purl.obolibrary.org/obo/MONDO_0006202	extrahepatic bile duct adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006203	extrahepatic bile duct squamous cell carcinoma		A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.
http://purl.obolibrary.org/obo/MONDO_0006203	extrahepatic bile duct squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003500	squamous cell bile duct carcinoma		A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0006206	fallopian tube carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that arises from epithelial cells of the fallopian tube.
http://purl.obolibrary.org/obo/MONDO_0006207	fallopian tube carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0006206	fallopian tube carcinoma		A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0006208	fallopian tube serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005278	serous adenocarcinoma		A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0006209	fibroblastic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.
http://purl.obolibrary.org/obo/MONDO_0006210	fibrolamellar hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0007256	hepatocellular carcinoma		A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.
http://purl.obolibrary.org/obo/MONDO_0006211	fibrous hamartoma of infancy	http://purl.obolibrary.org/obo/MONDO_0024478	mesenchymal hamartoma		A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.
http://purl.obolibrary.org/obo/MONDO_0006212	flat urothelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0024483	urothelial hyperplasia		A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003
http://purl.obolibrary.org/obo/MONDO_0006213	floor of mouth mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044964	oral cavity mucoepidermoid carcinoma		A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.
http://purl.obolibrary.org/obo/MONDO_0006214	follicular variant thyroid gland papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0006215	gallbladder adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A carcinoma that arises from glandular epithelial cells of the gall bladder.
http://purl.obolibrary.org/obo/MONDO_0006216	gallbladder adenoma	http://purl.obolibrary.org/obo/MONDO_0021253	gallbladder neoplasm		A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.
http://purl.obolibrary.org/obo/MONDO_0006217	gallbladder adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006220	gallbladder squamous cell carcinoma		A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.
http://purl.obolibrary.org/obo/MONDO_0006218	gallbladder biliary intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0021253	gallbladder neoplasm		A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.
http://purl.obolibrary.org/obo/MONDO_0006219	gallbladder small cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0024502	gallbladder neuroendocrine neoplasm		An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.
http://purl.obolibrary.org/obo/MONDO_0006220	gallbladder squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0006221	gastric adenoma	http://purl.obolibrary.org/obo/MONDO_0021085	gastric neoplasm		A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.
http://purl.obolibrary.org/obo/MONDO_0006222	gastric choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005207	choriocarcinoma		A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.
http://purl.obolibrary.org/obo/MONDO_0006223	gastric diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.
http://purl.obolibrary.org/obo/MONDO_0006224	gastric hamartomatous polyp	http://purl.obolibrary.org/obo/MONDO_0021085	gastric neoplasm		A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.
http://purl.obolibrary.org/obo/MONDO_0006225	gastric mantle cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0042493	gastric non-hodgkin lymphoma		A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0006226	gastric mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0042493	gastric non-hodgkin lymphoma		A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.
http://purl.obolibrary.org/obo/MONDO_0006227	gastric neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0015062	gastric neuroendocrine tumor, well differentiated, low or intermediate grade		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.
http://purl.obolibrary.org/obo/MONDO_0006228	gastric papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005036	gastric adenocarcinoma		A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.
http://purl.obolibrary.org/obo/MONDO_0006229	gastric small cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma		An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.
http://purl.obolibrary.org/obo/MONDO_0006230	gastric squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body.
http://purl.obolibrary.org/obo/MONDO_0006231	gastrointestinal hamartoma	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.
http://purl.obolibrary.org/obo/MONDO_0006232	giant cell tumor of soft tissue	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.
http://purl.obolibrary.org/obo/MONDO_0006233	gonadal teratoma	http://purl.obolibrary.org/obo/MONDO_0002601	teratoma		A teratoma that arises from the testis or ovary.
http://purl.obolibrary.org/obo/MONDO_0006234	grade III prostatic intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0005193	prostate intraepithelial neoplasia		High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities.
http://purl.obolibrary.org/obo/MONDO_0006235	granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0002547	nerve sheath neoplasm		An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.
http://purl.obolibrary.org/obo/MONDO_0006237	granulocytic sarcoma	http://purl.obolibrary.org/obo/MONDO_0006861	myeloid sarcoma		A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0006238	growth hormone-producing pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0019927	growth hormone-producing pituitary gland neoplasm		An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.
http://purl.obolibrary.org/obo/MONDO_0006239	head and neck paraganglioma	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.
http://purl.obolibrary.org/obo/MONDO_0006241	hepatic granuloma	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		A granuloma located in the liver.
http://purl.obolibrary.org/obo/MONDO_0006243	hepatoid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.
http://purl.obolibrary.org/obo/MONDO_0006244	HER2 positive breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile		A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).
http://purl.obolibrary.org/obo/MONDO_0006245	hidradenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005524	sweat gland carcinoma		A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.
http://purl.obolibrary.org/obo/MONDO_0006246	high grade surface osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002628	peripheral osteosarcoma		A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.
http://purl.obolibrary.org/obo/MONDO_0006247	histiocytic and dendritic cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0044881	hematopoietic and lymphoid cell neoplasm		Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0006248	hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0021218	placenta neoplasm		A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.
http://purl.obolibrary.org/obo/MONDO_0006249	hyperplastic polyp	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).
http://purl.obolibrary.org/obo/MONDO_0006250	ileal neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0015065	ileal neuroendocrine tumor, well differentiated, low or intermediate grade		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0006254	intestinal type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas.
http://purl.obolibrary.org/obo/MONDO_0006255	intimal sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0040677	invasive carcinoma		A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women.
http://purl.obolibrary.org/obo/MONDO_0006257	jejunal neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0015064	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0006258	juvenile polyp	http://purl.obolibrary.org/obo/MONDO_0006231	gastrointestinal hamartoma		A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.
http://purl.obolibrary.org/obo/MONDO_0006260	kidney medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma		A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.
http://purl.obolibrary.org/obo/MONDO_0006262	lacrimal gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004971	adenoid cystic carcinoma		A adenoid cystic carcinoma that involves the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0006264	laryngeal adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004971	adenoid cystic carcinoma		A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.
http://purl.obolibrary.org/obo/MONDO_0006265	laryngeal small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0015070	laryngeal neuroendocrine neoplasm		A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0006266	Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0006055	sex cord-stromal tumor		A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.
http://purl.obolibrary.org/obo/MONDO_0006267	liver cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0003155	cavernous hemangioma		A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.
http://purl.obolibrary.org/obo/MONDO_0006268	liver diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.
http://purl.obolibrary.org/obo/MONDO_0006270	lobular breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004988	breast adenocarcinoma		A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0006271	low grade central osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0009807	osteosarcoma		A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.
http://purl.obolibrary.org/obo/MONDO_0006272	low grade fibromyxoid sarcoma	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.
http://purl.obolibrary.org/obo/MONDO_0006273	low grade fibromyxoid sarcoma with giant collagen rosettes	http://purl.obolibrary.org/obo/MONDO_0006272	low grade fibromyxoid sarcoma		A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.
http://purl.obolibrary.org/obo/MONDO_0006274	low grade vulvar intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0005198	vulvar intraepithelial neoplasia		An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)
http://purl.obolibrary.org/obo/MONDO_0006275	lung giant cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006279	lung sarcomatoid carcinoma		A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.
http://purl.obolibrary.org/obo/MONDO_0006276	lung inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0015798	inflammatory myofibroblastic tumor		An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.
http://purl.obolibrary.org/obo/MONDO_0006277	lung lymphangioleiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0020588	lung PEComa		Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0006278	lung papilloma	http://purl.obolibrary.org/obo/MONDO_0002732	lung benign neoplasm		A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.
http://purl.obolibrary.org/obo/MONDO_0006279	lung sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006406	sarcomatoid carcinoma		A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.
http://purl.obolibrary.org/obo/MONDO_0006280	lung sclerosing hemangioma	http://purl.obolibrary.org/obo/MONDO_0003194	hemangioma of lung		A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0006281	lung signet ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005092	signet ring cell carcinoma		A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.
http://purl.obolibrary.org/obo/MONDO_0006282	lymphangiosarcoma	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.
http://purl.obolibrary.org/obo/MONDO_0006283	lymphoepithelioma-like lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0003050	lung large cell carcinoma		A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.
http://purl.obolibrary.org/obo/MONDO_0006284	major salivary gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0044743	major salivary gland cancer		A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.
http://purl.obolibrary.org/obo/MONDO_0006285	major salivary gland carcinoma ex pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0006403	salivary gland carcinoma ex pleomorphic adenoma		A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.
http://purl.obolibrary.org/obo/MONDO_0006286	major salivary gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006284	major salivary gland carcinoma		A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.
http://purl.obolibrary.org/obo/MONDO_0006287	malignancy in giant cell tumor of bone	http://purl.obolibrary.org/obo/MONDO_0002402	malignant giant cell tumor		A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).
http://purl.obolibrary.org/obo/MONDO_0006288	malignant adrenal gland pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0006290	malignant germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0005040	germ cell tumor		A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.
http://purl.obolibrary.org/obo/MONDO_0006291	malignant jugulotympanic paraganglioma	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A jugulotympanic paraganglioma that metastasizes to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma	http://purl.obolibrary.org/obo/MONDO_0005065	mesothelioma		A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.
http://purl.obolibrary.org/obo/MONDO_0006294	pleural cancer	http://purl.obolibrary.org/obo/MONDO_0021065	pleural neoplasm		A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.
http://purl.obolibrary.org/obo/MONDO_0006295	malignant urinary system neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm		A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.
http://purl.obolibrary.org/obo/MONDO_0006297	maxillary sinus adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006352	paranasal sinus adenoid cystic carcinoma		An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0006298	mediastinal malignant germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0021067	mediastinal germ cell tumor		An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.
http://purl.obolibrary.org/obo/MONDO_0006300	medullomyoblastoma with myogenic differentiation	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.
http://purl.obolibrary.org/obo/MONDO_0006301	metanephric adenoma	http://purl.obolibrary.org/obo/MONDO_0002395	renal adenoma		A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.
http://purl.obolibrary.org/obo/MONDO_0006302	micropapillary serous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.
http://purl.obolibrary.org/obo/MONDO_0006303	middle ear squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A rare squamous cell carcinoma that arises from the middle ear.
http://purl.obolibrary.org/obo/MONDO_0006304	minor salivary gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0045069	minor salivary gland carcinoma		An adenocarcinoma that arises from the minor salivary glands.
http://purl.obolibrary.org/obo/MONDO_0006306	mixed lobular and ductal breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.
http://purl.obolibrary.org/obo/MONDO_0006307	mixed somatotroph-lactotroph pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry.
http://purl.obolibrary.org/obo/MONDO_0006309	mucinous gastric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005036	gastric adenocarcinoma		A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.
http://purl.obolibrary.org/obo/MONDO_0006311	myelodysplastic/myeloproliferative neoplasm	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.
http://purl.obolibrary.org/obo/MONDO_0006312	myofibroma	http://purl.obolibrary.org/obo/MONDO_0003342	benign perivascular tumor		A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.
http://purl.obolibrary.org/obo/MONDO_0006313	nabothian cyst	http://purl.obolibrary.org/obo/MONDO_0021230	uterine cervix neoplasm		A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.
http://purl.obolibrary.org/obo/MONDO_0006314	nasal cavity polyp	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.
http://purl.obolibrary.org/obo/MONDO_0006316	neuroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0005462	primitive neuroectodermal tumor		A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.
http://purl.obolibrary.org/obo/MONDO_0006317	neurothekeoma	http://purl.obolibrary.org/obo/MONDO_0002547	nerve sheath neoplasm		A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0006320	non-cutaneous melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)
http://purl.obolibrary.org/obo/MONDO_0006321	non-functioning adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0021119	non-functioning endocrine neoplasm		An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease.
http://purl.obolibrary.org/obo/MONDO_0006322	non-neoplastic bile duct disorder	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.
http://purl.obolibrary.org/obo/MONDO_0006323	non-seminomatous lesion	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006324	normal breast-like subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile		A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.
http://purl.obolibrary.org/obo/MONDO_0006325	ocular melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		A melanoma that arises from the structures of the eye or ocular adnexa.
http://purl.obolibrary.org/obo/MONDO_0006326	ocular melanoma with extraocular extension	http://purl.obolibrary.org/obo/MONDO_0006325	ocular melanoma		A melanoma arising from and extending beyond the structures of the eye.
http://purl.obolibrary.org/obo/MONDO_0006327	ocular sebaceous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006962	sebaceous adenocarcinoma		Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases.
http://purl.obolibrary.org/obo/MONDO_0006328	odontogenic cyst	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A cyst in the jaw that arises from tissues of tooth development.
http://purl.obolibrary.org/obo/MONDO_0006329	olfactory neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0003142	intracranial primitive neuroectodermal tumor		An olfactory neuroblastoma arising in the paranasal sinus.
http://purl.obolibrary.org/obo/MONDO_0006330	ossifying fibromyxoid tumor	http://purl.obolibrary.org/obo/MONDO_0037745	fibromyxoid tumor		A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.
http://purl.obolibrary.org/obo/MONDO_0006335	ovarian endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005461	endometrium adenocarcinoma		An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006336	ovarian endometrioid adenocarcinoma with squamous differentiation	http://purl.obolibrary.org/obo/MONDO_0006335	ovarian endometrioid adenocarcinoma		An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.
http://purl.obolibrary.org/obo/MONDO_0006337	ovarian endometriosis	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.
http://purl.obolibrary.org/obo/MONDO_0006339	ovarian microcystic stromal tumor	http://purl.obolibrary.org/obo/MONDO_0024387	benign ovarian sex cord-stromal tumor		A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.
http://purl.obolibrary.org/obo/MONDO_0006340	ovarian serous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0024886	serous adenofibroma		A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.
http://purl.obolibrary.org/obo/MONDO_0006343	ovarian transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006474	transitional cell carcinoma		A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.
http://purl.obolibrary.org/obo/MONDO_0006344	ovarian yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0016096	malignant non-dysgerminomatous germ cell tumor of ovary		A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.
http://purl.obolibrary.org/obo/MONDO_0006345	palmar fibromatosis	http://purl.obolibrary.org/obo/MONDO_0016037	superficial Fibromatosis		A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.
http://purl.obolibrary.org/obo/MONDO_0006346	pancreatic acinar cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006047	pancreatic adenocarcinoma		An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.
http://purl.obolibrary.org/obo/MONDO_0006347	pancreatic large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005893	pancreatic endocrine carcinoma		An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.
http://purl.obolibrary.org/obo/MONDO_0006348	pancreatic small cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005893	pancreatic endocrine carcinoma		An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.
http://purl.obolibrary.org/obo/MONDO_0006349	papillary cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm		A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.
http://purl.obolibrary.org/obo/MONDO_0006350	papillary transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006509	papillary carcinoma		A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0006351	parachordoma	http://purl.obolibrary.org/obo/MONDO_0002380	myoepithelial tumor		A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities.
http://purl.obolibrary.org/obo/MONDO_0006352	paranasal sinus adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004971	adenoid cystic carcinoma		A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.
http://purl.obolibrary.org/obo/MONDO_0006353	paranasal sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0021078	glandular papilloma		A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma.
http://purl.obolibrary.org/obo/MONDO_0006354	parathyroid hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		A hyperplasia that involves the parathyroid gland.
http://purl.obolibrary.org/obo/MONDO_0006355	parotid gland acinic cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004965	acinar cell carcinoma		An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.
http://purl.obolibrary.org/obo/MONDO_0006356	parotid gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0045063	major salivary gland adenoid cystic carcinoma		An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.
http://purl.obolibrary.org/obo/MONDO_0006357	parotid gland carcinoma ex pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0006285	major salivary gland carcinoma ex pleomorphic adenoma		A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.
http://purl.obolibrary.org/obo/MONDO_0006358	parotid gland squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044740	salivary gland squamous cell carcinoma		An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.
http://purl.obolibrary.org/obo/MONDO_0006359	neoplasm with perivascular epithelioid cell differentiation	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.
http://purl.obolibrary.org/obo/MONDO_0006360	penile carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that arises from epithelial cells of the penis
http://purl.obolibrary.org/obo/MONDO_0006362	peritoneal mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006901	peritoneal neoplasm		A benign or malignant mesothelial neoplasm that arises from the peritoneum.
http://purl.obolibrary.org/obo/MONDO_0006363	peritoneal multicystic mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006362	peritoneal mesothelioma		A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.
http://purl.obolibrary.org/obo/MONDO_0006364	peritoneal well differentiated papillary mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006362	peritoneal mesothelioma		A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.
http://purl.obolibrary.org/obo/MONDO_0006365	Peutz-Jeghers polyp	http://purl.obolibrary.org/obo/MONDO_0006231	gastrointestinal hamartoma		A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002
http://purl.obolibrary.org/obo/MONDO_0006366	Peutz-Jeghers polyp of the stomach	http://purl.obolibrary.org/obo/MONDO_0006365	Peutz-Jeghers polyp		A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.
http://purl.obolibrary.org/obo/MONDO_0006367	pharyngeal adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0021345	carcinoma of pharynx		An adenoid cystic carcinoma that arises from the pharynx.
http://purl.obolibrary.org/obo/MONDO_0006368	phosphaturic mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.
http://purl.obolibrary.org/obo/MONDO_0006369	pineal parenchymal tumor of intermediate differentiation	http://purl.obolibrary.org/obo/MONDO_0024890	pineal parenchymal cell neoplasm		A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0006372	pituicytoma	http://purl.obolibrary.org/obo/MONDO_0016685	low-grade astrocytoma		An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.
http://purl.obolibrary.org/obo/MONDO_0006373	pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0017611	pituitary tumor		A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.
http://purl.obolibrary.org/obo/MONDO_0006374	placental choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0020550	gestational choriocarcinoma		Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.
http://purl.obolibrary.org/obo/MONDO_0006375	placental hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma arising from the fetal blood vessels in the placental villi.
http://purl.obolibrary.org/obo/MONDO_0006377	pleural biphasic mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006109	malignant biphasic mesothelioma		Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.
http://purl.obolibrary.org/obo/MONDO_0006378	pleural epithelioid mesothelioma	http://purl.obolibrary.org/obo/MONDO_0005599	malignant epithelioid mesothelioma		Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.
http://purl.obolibrary.org/obo/MONDO_0006380	pleural sarcomatoid mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006407	sarcomatoid mesothelioma		Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.
http://purl.obolibrary.org/obo/MONDO_0006381	plexiform ameloblastoma	http://purl.obolibrary.org/obo/MONDO_0017795	ameloblastoma		A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma.
http://purl.obolibrary.org/obo/MONDO_0006382	poorly differentiated thyroid gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)
http://purl.obolibrary.org/obo/MONDO_0006383	primary cutaneous diffuse large B-cell lymphoma, Leg type	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.
http://purl.obolibrary.org/obo/MONDO_0006385	primary intraosseous squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor.
http://purl.obolibrary.org/obo/MONDO_0006386	primary peritoneal serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0015686	primary peritoneal carcinoma		A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity.
http://purl.obolibrary.org/obo/MONDO_0006387	primary pulmonary diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020644	lung non-Hodgkin lymphoma		A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.
http://purl.obolibrary.org/obo/MONDO_0006388	prolactin-producing pituitary gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0017582	pituitary adenocarcinoma		A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.
http://purl.obolibrary.org/obo/MONDO_0006389	prostate rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.
http://purl.obolibrary.org/obo/MONDO_0006390	prostate small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005159	prostate carcinoma		A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.
http://purl.obolibrary.org/obo/MONDO_0006391	pyloric gland adenoma	http://purl.obolibrary.org/obo/MONDO_0006221	gastric adenoma		A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.
http://purl.obolibrary.org/obo/MONDO_0006392	rectal hyperplastic polyp	http://purl.obolibrary.org/obo/MONDO_0021398	polyp of rectum		A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.
http://purl.obolibrary.org/obo/MONDO_0006393	rectal traditional serrated adenoma	http://purl.obolibrary.org/obo/MONDO_0000530	rectum adenoma		An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia.
http://purl.obolibrary.org/obo/MONDO_0006394	rectal tubular adenoma	http://purl.obolibrary.org/obo/MONDO_0024660	tubular adenoma		A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0006395	rectal tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0024662	colorectal tubulovillous adenoma		A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0006396	rectal villous adenoma	http://purl.obolibrary.org/obo/MONDO_0000530	rectum adenoma		A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0006397	renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions	http://purl.obolibrary.org/obo/MONDO_0005549	renal cell adenocarcinoma		A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.
http://purl.obolibrary.org/obo/MONDO_0006398	retroperitoneal inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0024645	retroperitoneal neoplasm		A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.
http://purl.obolibrary.org/obo/MONDO_0006400	salivary gland acinic cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004965	acinar cell carcinoma		A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0006401	salivary gland adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0044740	salivary gland squamous cell carcinoma		A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.
http://purl.obolibrary.org/obo/MONDO_0006402	salivary gland basal cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005341	skin basal cell carcinoma		A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.
http://purl.obolibrary.org/obo/MONDO_0006403	salivary gland carcinoma ex pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0002472	carcinoma ex pleomorphic adenoma		A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.
http://purl.obolibrary.org/obo/MONDO_0006404	salivary gland large cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass.
http://purl.obolibrary.org/obo/MONDO_0006405	salivary gland small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0024503	digestive system neuroendocrine neoplasm		An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.
http://purl.obolibrary.org/obo/MONDO_0006406	sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0020663	malignant spindle cell neoplasm		A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.
http://purl.obolibrary.org/obo/MONDO_0006407	sarcomatoid mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma		A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.
http://purl.obolibrary.org/obo/MONDO_0006408	sex hormone-producing adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0003924	adrenal cortex adenoma		A rare adenoma of the adrenal cortex that produces androgens or estrogens.
http://purl.obolibrary.org/obo/MONDO_0006409	signet ring cell gastric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005092	signet ring cell carcinoma		A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.
http://purl.obolibrary.org/obo/MONDO_0006410	simple endometrial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.
http://purl.obolibrary.org/obo/MONDO_0006411	sinonasal undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0006412	sinus histiocytosis with massive lymphadenopathy	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.
http://purl.obolibrary.org/obo/MONDO_0006414	skin sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0006416	small intestinal Burkitt lymphoma	http://purl.obolibrary.org/obo/MONDO_0007243	Burkitt lymphoma		A Burkitt lymphoma that arises from the small intestine.
http://purl.obolibrary.org/obo/MONDO_0006417	small intestinal diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that arises from the small intestine.
http://purl.obolibrary.org/obo/MONDO_0006418	small intestinal enteropathy-associated T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019473	enteropathy-associated T-cell lymphoma		An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.
http://purl.obolibrary.org/obo/MONDO_0006419	small intestinal intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0024474	intraepithelial neoplasia		A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.
http://purl.obolibrary.org/obo/MONDO_0006420	small intestinal mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0007650	MALT lymphoma		A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.
http://purl.obolibrary.org/obo/MONDO_0006421	small intestinal tubular adenoma	http://purl.obolibrary.org/obo/MONDO_0024660	tubular adenoma		A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0006422	small intestinal tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0024661	tubulovillous adenoma		A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0006423	soft tissue chondroma	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.
http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0044334	connective and soft tissue neoplasm		A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.
http://purl.obolibrary.org/obo/MONDO_0006426	spinal cord primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0003544	spinal cord cancer		A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0006427	spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		A melanoma characterized by the presence of malignant spindle-shaped melanocytes.
http://purl.obolibrary.org/obo/MONDO_0006428	splenic diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma occurring in the spleen.
http://purl.obolibrary.org/obo/MONDO_0006429	splenic hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0004952	Hodgkins lymphoma		A rare Hodgkin lymphoma that arises from the spleen.
http://purl.obolibrary.org/obo/MONDO_0006430	splenic mantle cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018876	mantle cell lymphoma		A mantle cell lymphoma occurring in the spleen.
http://purl.obolibrary.org/obo/MONDO_0006432	stromal predominant kidney Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0019004	kidney Wilms tumor		Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.
http://purl.obolibrary.org/obo/MONDO_0006435	submandibular gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006436	submandibular gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0045063	major salivary gland adenoid cystic carcinoma		An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.
http://purl.obolibrary.org/obo/MONDO_0006438	synovial chondromatosis	http://purl.obolibrary.org/obo/MONDO_0044334	connective and soft tissue neoplasm		Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.
http://purl.obolibrary.org/obo/MONDO_0006442	tendon sheath fibroma	http://purl.obolibrary.org/obo/MONDO_0024876	tendon sheath disorder		A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.
http://purl.obolibrary.org/obo/MONDO_0006444	teratoma with malignant transformation	http://purl.obolibrary.org/obo/MONDO_0002601	teratoma		A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.
http://purl.obolibrary.org/obo/MONDO_0006446	testicular embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0005564	embryonal neoplasm		A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.
http://purl.obolibrary.org/obo/MONDO_0006447	testicular non-seminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0010108	testicular germ cell tumor		A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.
http://purl.obolibrary.org/obo/MONDO_0006450	therapy-related myeloid neoplasm	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.
http://purl.obolibrary.org/obo/MONDO_0006451	thymic carcinoma	http://purl.obolibrary.org/obo/MONDO_0018079	thymic epithelial neoplasm		Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential.
http://purl.obolibrary.org/obo/MONDO_0006452	thymic sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006451	thymic carcinoma		A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.
http://purl.obolibrary.org/obo/MONDO_0006455	thymic undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0006451	thymic carcinoma		A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.
http://purl.obolibrary.org/obo/MONDO_0006456	thymoma	http://purl.obolibrary.org/obo/MONDO_0018079	thymic epithelial neoplasm		A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0006458	thymoma type B3	http://purl.obolibrary.org/obo/MONDO_0016974	thymoma type B		Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.
http://purl.obolibrary.org/obo/MONDO_0006459	thymoma type B1	http://purl.obolibrary.org/obo/MONDO_0016974	thymoma type B		A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.
http://purl.obolibrary.org/obo/MONDO_0006460	thyroglossal duct cyst	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.
http://purl.obolibrary.org/obo/MONDO_0006462	thyroid gland diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019962	thyroid lymphoma		A diffuse large B-cell lymphoma primarily involving the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0006463	thyroid gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0024622	thyroid gland adenocarcinoma		A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent.
http://purl.obolibrary.org/obo/MONDO_0006464	thyroid gland mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0007650	MALT lymphoma		An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.
http://purl.obolibrary.org/obo/MONDO_0006466	thyroid gland spindle cell tumor with thymus-like differentiation	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells.
http://purl.obolibrary.org/obo/MONDO_0006467	thyroid gland squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive.
http://purl.obolibrary.org/obo/MONDO_0006468	thyroid gland undifferentiated (anaplastic) carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.
http://purl.obolibrary.org/obo/MONDO_0006469	tibial adamantinoma	http://purl.obolibrary.org/obo/MONDO_0002422	adamantinoma		An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).
http://purl.obolibrary.org/obo/MONDO_0006470	tonsillar squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021337	tonsil carcinoma		A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.
http://purl.obolibrary.org/obo/MONDO_0006471	tracheal adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004971	adenoid cystic carcinoma		An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0006474	transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.
http://purl.obolibrary.org/obo/MONDO_0006476	undifferentiated gallbladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.
http://purl.obolibrary.org/obo/MONDO_0006477	undifferentiated ovarian carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0006478	undifferentiated pancreatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.
http://purl.obolibrary.org/obo/MONDO_0006479	undifferentiated pancreatic carcinoma with osteoclast-like giant cells	http://purl.obolibrary.org/obo/MONDO_0006478	undifferentiated pancreatic carcinoma		A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells.
http://purl.obolibrary.org/obo/MONDO_0006480	undifferentiated pleomorphic sarcoma, inflammatory variant	http://purl.obolibrary.org/obo/MONDO_0002142	undifferentiated pleomorphic sarcoma		An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.
http://purl.obolibrary.org/obo/MONDO_0006481	ureter carcinoma	http://purl.obolibrary.org/obo/MONDO_0008627	ureter cancer		A carcinoma that arises from epithelial cells of the ureter.
http://purl.obolibrary.org/obo/MONDO_0006482	ureter small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006481	ureter carcinoma		A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0006483	urothelial dysplasia	http://purl.obolibrary.org/obo/MONDO_0024337	urothelial neoplasm		A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.
http://purl.obolibrary.org/obo/MONDO_0006484	usual ductal breast hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.
http://purl.obolibrary.org/obo/MONDO_0006485	uterine carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0002928	carcinosarcoma		A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.
http://purl.obolibrary.org/obo/MONDO_0006486	uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0006325	ocular melanoma		A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.
http://purl.obolibrary.org/obo/MONDO_0006487	vaginal adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0020653	vaginal adenocarcinoma		An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present.
http://purl.obolibrary.org/obo/MONDO_0006488	vaginal carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0037746	malignant vaginal mixed epithelial and mesenchymal neoplasm		An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.
http://purl.obolibrary.org/obo/MONDO_0006489	vaginal melanoma	http://purl.obolibrary.org/obo/MONDO_0021050	vaginal neoplasm		A primary malignant neoplasm of the vagina composed of malignant melanocytes.
http://purl.obolibrary.org/obo/MONDO_0006490	vaginal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0015867	vaginal carcinoma		A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease.
http://purl.obolibrary.org/obo/MONDO_0006491	vulvar lichen sclerosus	http://purl.obolibrary.org/obo/MONDO_0007899	lichen sclerosus et atrophicus		A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.
http://purl.obolibrary.org/obo/MONDO_0006493	Warthin tumor	http://purl.obolibrary.org/obo/MONDO_0006180	digestive system adenoma		An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.
http://purl.obolibrary.org/obo/MONDO_0006496	palsy	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)
http://purl.obolibrary.org/obo/MONDO_0006497	cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0044996	cerebral cortex disorder		A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.
http://purl.obolibrary.org/obo/MONDO_0006498	adenomatous colon polyp	http://purl.obolibrary.org/obo/MONDO_0000527	colon adenoma		A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.
http://purl.obolibrary.org/obo/MONDO_0006499	hamartoma	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.
http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma	http://purl.obolibrary.org/obo/MONDO_0024286	benign blood vessel neoplasm		A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.
http://purl.obolibrary.org/obo/MONDO_0006502	acute respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.
http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		An instance of metabolic disease that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0006505	basal ganglia cerebrovascular disorder	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).
http://purl.obolibrary.org/obo/MONDO_0006506	congenital nonspherocytic hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.
http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0017763	disorder of iron metabolism and transport		An inherited metabolic disorder characterized by iron accumulation in the tissues.
http://purl.obolibrary.org/obo/MONDO_0006509	papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm		A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006510	renal tubular transport disease	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Genetic defects in the selective or non-selective transport functions of the kidney tubules.
http://purl.obolibrary.org/obo/MONDO_0006512	estrogen-receptor positive breast cancer	http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile		A subtype of breast cancer that is estrogen-receptor positive
http://purl.obolibrary.org/obo/MONDO_0006513	estrogen-receptor negative breast cancer	http://purl.obolibrary.org/obo/MONDO_0006116	breast carcinoma by gene expression profile		A subtype of breast cancer that is estrogen-receptor negative
http://purl.obolibrary.org/obo/MONDO_0006515	acute pancreatitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.
http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).
http://purl.obolibrary.org/obo/MONDO_0006519	rectal cancer	http://purl.obolibrary.org/obo/MONDO_0005575	colorectal cancer		A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0006520	Achenbach syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.
http://purl.obolibrary.org/obo/MONDO_0006521	acneiform dermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids).
http://purl.obolibrary.org/obo/MONDO_0006522	acquired keratosis	http://purl.obolibrary.org/obo/MONDO_0006566	keratosis		Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.
http://purl.obolibrary.org/obo/MONDO_0006523	acrodermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.
http://purl.obolibrary.org/obo/MONDO_0006524	acrodermatitis chronica atrophicans	http://purl.obolibrary.org/obo/MONDO_0006523	acrodermatitis		An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.
http://purl.obolibrary.org/obo/MONDO_0006525	allergic contact dermatitis	http://purl.obolibrary.org/obo/MONDO_0005480	contact dermatitis		An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.
http://purl.obolibrary.org/obo/MONDO_0006526	allergic urticaria	http://purl.obolibrary.org/obo/MONDO_0005492	urticaria		A urticaria with a basis in a pathological type I hypersensitivity reaction.
http://purl.obolibrary.org/obo/MONDO_0006527	anhidrosis	http://purl.obolibrary.org/obo/MONDO_0006615	sweat gland disorder		Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.
http://purl.obolibrary.org/obo/MONDO_0006528	bacterial exanthem	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		A bacteria-induced exanthem
http://purl.obolibrary.org/obo/MONDO_0006530	cholesteatoma	http://purl.obolibrary.org/obo/MONDO_0006566	keratosis		A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.
http://purl.obolibrary.org/obo/MONDO_0006531	cholesteatoma of attic	http://purl.obolibrary.org/obo/MONDO_0006533	cholesteatoma of middle ear		A cholesteatoma in the attic
http://purl.obolibrary.org/obo/MONDO_0006532	cholesteatoma of external ear	http://purl.obolibrary.org/obo/MONDO_0006530	cholesteatoma		A cholesteatoma (disease) that involves the external ear.
http://purl.obolibrary.org/obo/MONDO_0006533	cholesteatoma of middle ear	http://purl.obolibrary.org/obo/MONDO_0006530	cholesteatoma		A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.
http://purl.obolibrary.org/obo/MONDO_0006534	cholinergic urticaria	http://purl.obolibrary.org/obo/MONDO_0006599	physical urticaria		A type of physical urticarias (or hives) that appears when a person is sweating.
http://purl.obolibrary.org/obo/MONDO_0006536	congenital generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0027766	generalized lipodystrophy		An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.
http://purl.obolibrary.org/obo/MONDO_0006537	conjunctival pigmentation	http://purl.obolibrary.org/obo/MONDO_0001331	conjunctival deposit		Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.
http://purl.obolibrary.org/obo/MONDO_0006539	diffuse lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006574	lipomatosis		A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.
http://purl.obolibrary.org/obo/MONDO_0006540	dyshidrosis	http://purl.obolibrary.org/obo/MONDO_0006615	sweat gland disorder		A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0006541	epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006617	vesiculobullous skin disease		Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.
http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica	http://purl.obolibrary.org/obo/MONDO_0019276	inherited epidermolysis bullosa		A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.
http://purl.obolibrary.org/obo/MONDO_0006544	erythema infectiosum	http://purl.obolibrary.org/obo/MONDO_0006619	viral exanthem		A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.
http://purl.obolibrary.org/obo/MONDO_0006545	erythema multiforme	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).
http://purl.obolibrary.org/obo/MONDO_0006546	erythematosquamous dermatosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.
http://purl.obolibrary.org/obo/MONDO_0006547	exanthem	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A skin disease characterized by widespread, often symmetrical skin eruption that typically occurs acutely in association with a systemic disease, especially infectious or immune-mediated conditions.
http://purl.obolibrary.org/obo/MONDO_0006548	facial dermatosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.
http://purl.obolibrary.org/obo/MONDO_0006549	fibroepithelial polyp of the anus	http://purl.obolibrary.org/obo/MONDO_0060765	fibroepithelial polyp		A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.
http://purl.obolibrary.org/obo/MONDO_0006550	fibroepithelial polyp of urethra	http://purl.obolibrary.org/obo/MONDO_0060765	fibroepithelial polyp		A benign polypoid lesion of mesodermal origin that arises from the urethra.
http://purl.obolibrary.org/obo/MONDO_0006551	alopecia mucinosa	http://purl.obolibrary.org/obo/MONDO_0006607	sebaceous gland disorder		A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0006552	folliculitis	http://purl.obolibrary.org/obo/MONDO_0002917	disorder of pilosebaceous unit		Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.
http://purl.obolibrary.org/obo/MONDO_0006553	Fox-Fordyce disease	http://purl.obolibrary.org/obo/MONDO_0006615	sweat gland disorder		A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.
http://purl.obolibrary.org/obo/MONDO_0006554	granuloma annulare	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.
http://purl.obolibrary.org/obo/MONDO_0006555	granulomatous dermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.
http://purl.obolibrary.org/obo/MONDO_0006556	hand dermatosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.
http://purl.obolibrary.org/obo/MONDO_0006557	hemangioma of subcutaneous tissue	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		A hemangioma arising from the subcutaneous soft tissues.
http://purl.obolibrary.org/obo/MONDO_0006558	pemphigoid gestationis	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.
http://purl.obolibrary.org/obo/MONDO_0006559	hidradenitis suppurativa	http://purl.obolibrary.org/obo/MONDO_0002260	hidradenitis		A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.
http://purl.obolibrary.org/obo/MONDO_0006561	eyelid hypopigmentation	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		Under-production of pigment in the eyelid.
http://purl.obolibrary.org/obo/MONDO_0006563	inverted follicular keratosis	http://purl.obolibrary.org/obo/MONDO_0008420	seborrheic keratosis		Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.
http://purl.obolibrary.org/obo/MONDO_0006564	irritant dermatitis	http://purl.obolibrary.org/obo/MONDO_0005480	contact dermatitis		An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.
http://purl.obolibrary.org/obo/MONDO_0006565	juvenile dermatitis herpetiformis	http://purl.obolibrary.org/obo/MONDO_0015614	dermatitis herpetiformis		Dermatitis herpetiformis in children
http://purl.obolibrary.org/obo/MONDO_0006566	keratosis	http://purl.obolibrary.org/obo/MONDO_0045011	keratinization disease		A skin disorder consisting of hypertrophy of the stratum corneum of the skin.
http://purl.obolibrary.org/obo/MONDO_0006567	kernicterus due to isoimmunization	http://purl.obolibrary.org/obo/MONDO_0018477	bilirubin encephalopathy		Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.
http://purl.obolibrary.org/obo/MONDO_0006569	leg dermatosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)
http://purl.obolibrary.org/obo/MONDO_0006570	lichen disease	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.
http://purl.obolibrary.org/obo/MONDO_0006571	lichen nitidus	http://purl.obolibrary.org/obo/MONDO_0006570	lichen disease		A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.
http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus	http://purl.obolibrary.org/obo/MONDO_0006570	lichen disease		A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.
http://purl.obolibrary.org/obo/MONDO_0006573	lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.
http://purl.obolibrary.org/obo/MONDO_0006574	lipomatosis	http://purl.obolibrary.org/obo/MONDO_0044983	benign lipomatous neoplasm		A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.
http://purl.obolibrary.org/obo/MONDO_0006576	Ludwig's angina	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0006577	maxillary sinus cholesteatoma	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.
http://purl.obolibrary.org/obo/MONDO_0006578	mediastinal lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006574	lipomatosis		A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0006579	melanoacanthoma	http://purl.obolibrary.org/obo/MONDO_0008420	seborrheic keratosis		A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.
http://purl.obolibrary.org/obo/MONDO_0006580	miliaria	http://purl.obolibrary.org/obo/MONDO_0006615	sweat gland disorder		A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.
http://purl.obolibrary.org/obo/MONDO_0006581	miliaria rubra	http://purl.obolibrary.org/obo/MONDO_0006580	miliaria		Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).
http://purl.obolibrary.org/obo/MONDO_0006582	mongolian spot	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.
http://purl.obolibrary.org/obo/MONDO_0006583	necrobiosis lipoidica	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.
http://purl.obolibrary.org/obo/MONDO_0006585	neurodermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.
http://purl.obolibrary.org/obo/MONDO_0006586	neurotic excoriation	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.
http://purl.obolibrary.org/obo/MONDO_0006589	occupational dermatitis	http://purl.obolibrary.org/obo/MONDO_0100366	occupational disorder		Contact dermatitis associated with allergens or irritants found in the workplace.
http://purl.obolibrary.org/obo/MONDO_0006590	palmoplantar keratosis	http://purl.obolibrary.org/obo/MONDO_0006566	keratosis		A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.
http://purl.obolibrary.org/obo/MONDO_0006591	panniculitis	http://purl.obolibrary.org/obo/MONDO_0003900	connective tissue disorder		Inflammation of the subcutaneous adipose tissue.
http://purl.obolibrary.org/obo/MONDO_0006592	parapsoriasis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		An inflammatory skin disorder of unknown etiology characterized by papules and plaques or scaly patches resembling psoriasis.
http://purl.obolibrary.org/obo/MONDO_0006593	pelvic lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006574	lipomatosis		A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.
http://purl.obolibrary.org/obo/MONDO_0006594	pemphigus	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus
http://purl.obolibrary.org/obo/MONDO_0006595	perinatal jaundice due to hepatocellular damage	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		Jaundice in perinates due to cellular damage of liver.
http://purl.obolibrary.org/obo/MONDO_0006596	photoallergic dermatitis	http://purl.obolibrary.org/obo/MONDO_0006597	photosensitivity disease		A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.
http://purl.obolibrary.org/obo/MONDO_0006597	photosensitivity disease	http://purl.obolibrary.org/obo/MONDO_0043771	radiodermatitis		Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
http://purl.obolibrary.org/obo/MONDO_0006598	phototoxic dermatitis	http://purl.obolibrary.org/obo/MONDO_0006597	photosensitivity disease		Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.
http://purl.obolibrary.org/obo/MONDO_0006599	physical urticaria	http://purl.obolibrary.org/obo/MONDO_0005492	urticaria		A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.
http://purl.obolibrary.org/obo/MONDO_0006601	pityriasis rosea	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.
http://purl.obolibrary.org/obo/MONDO_0006602	porokeratosis	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.
http://purl.obolibrary.org/obo/MONDO_0006603	reactive cutaneous fibrous lesion	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.
http://purl.obolibrary.org/obo/MONDO_0006604	rosacea	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.
http://purl.obolibrary.org/obo/MONDO_0006605	scalp dermatosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Dermotosis of scalp
http://purl.obolibrary.org/obo/MONDO_0006606	scleredema adultorum	http://purl.obolibrary.org/obo/MONDO_0002523	cutaneous mucinosis		A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.
http://purl.obolibrary.org/obo/MONDO_0006607	sebaceous gland disorder	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A disease involving the sebaceous gland.
http://purl.obolibrary.org/obo/MONDO_0006608	seborrheic dermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.
http://purl.obolibrary.org/obo/MONDO_0006609	seborrheic infantile dermatitis	http://purl.obolibrary.org/obo/MONDO_0006608	seborrheic dermatitis		Excessive shedding of dry scaly material from the scalp in humans.
http://purl.obolibrary.org/obo/MONDO_0006610	skin atrophy	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.
http://purl.obolibrary.org/obo/MONDO_0006611	skin sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0019338	sarcoidosis		Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.
http://purl.obolibrary.org/obo/MONDO_0006612	steroid lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006574	lipomatosis		A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.
http://purl.obolibrary.org/obo/MONDO_0006613	stromal corneal pigmentation	http://purl.obolibrary.org/obo/MONDO_0001308	corneal deposit		Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.
http://purl.obolibrary.org/obo/MONDO_0006614	subcorneal pustular dermatosis	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.
http://purl.obolibrary.org/obo/MONDO_0006615	sweat gland disorder	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A disease involving the sweat gland.
http://purl.obolibrary.org/obo/MONDO_0006616	toxicodendron dermatitis	http://purl.obolibrary.org/obo/MONDO_0006525	allergic contact dermatitis		An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0006617	vesiculobullous skin disease	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)
http://purl.obolibrary.org/obo/MONDO_0006618	vibratory urticaria	http://purl.obolibrary.org/obo/MONDO_0006599	physical urticaria		This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.
http://purl.obolibrary.org/obo/MONDO_0006619	viral exanthem	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		A virus-induced exanthem
http://purl.obolibrary.org/obo/MONDO_0006620	vulva fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0060765	fibroepithelial polyp		A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.
http://purl.obolibrary.org/obo/MONDO_0006621	vulvar inverted follicular keratosis	http://purl.obolibrary.org/obo/MONDO_0006622	vulvar seborrheic keratosis		Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.
http://purl.obolibrary.org/obo/MONDO_0006622	vulvar seborrheic keratosis	http://purl.obolibrary.org/obo/MONDO_0008420	seborrheic keratosis		A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation.
http://purl.obolibrary.org/obo/MONDO_0006624	overactive bladder	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.
http://purl.obolibrary.org/obo/MONDO_0006625	altitude sickness	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Multiple symptoms associated with reduced oxygen at high altitude.
http://purl.obolibrary.org/obo/MONDO_0006626	diabetic neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.
http://purl.obolibrary.org/obo/MONDO_0006629	osteoarthritis, hip	http://purl.obolibrary.org/obo/MONDO_0005178	osteoarthritis		Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.
http://purl.obolibrary.org/obo/MONDO_0006630	osteoarthritis, spine	http://purl.obolibrary.org/obo/MONDO_0005178	osteoarthritis		A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).
http://purl.obolibrary.org/obo/MONDO_0006631	osteoarthritis, toe	http://purl.obolibrary.org/obo/MONDO_0005178	osteoarthritis		Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.
http://purl.obolibrary.org/obo/MONDO_0006632	osteoarthritis, hand	http://purl.obolibrary.org/obo/MONDO_0005178	osteoarthritis		Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).
http://purl.obolibrary.org/obo/MONDO_0006633	acalculous cholecystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		Inflammation of the gallbladder in the absence of gallstones.
http://purl.obolibrary.org/obo/MONDO_0006634	pituitary gland acidophil adenoma	http://purl.obolibrary.org/obo/MONDO_0006373	pituitary gland adenoma		An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.
http://purl.obolibrary.org/obo/MONDO_0006635	Acinetobacter infectious disease	http://purl.obolibrary.org/obo/MONDO_0006878	Moraxellaceae infectious disease		Infections with bacteria of the genus acinetobacter.
http://purl.obolibrary.org/obo/MONDO_0006636	Actinobacillus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the genus actinobacillus.
http://purl.obolibrary.org/obo/MONDO_0006637	acute kidney tubular necrosis	http://purl.obolibrary.org/obo/MONDO_0002492	acute kidney injury		Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.
http://purl.obolibrary.org/obo/MONDO_0006638	acute retinal necrosis syndrome	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.
http://purl.obolibrary.org/obo/MONDO_0006639	adrenal cortex carcinoma	http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma		A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.
http://purl.obolibrary.org/obo/MONDO_0006640	adrenal gland hyperfunction	http://purl.obolibrary.org/obo/MONDO_0002816	adrenal cortex disorder		Excess production of adrenal cortex hormones.
http://purl.obolibrary.org/obo/MONDO_0006641	afferent loop syndrome	http://purl.obolibrary.org/obo/MONDO_0004566	postgastrectomy syndrome		A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.
http://purl.obolibrary.org/obo/MONDO_0006642	alcohol withdrawal delirium	http://purl.obolibrary.org/obo/MONDO_0021698	alcohol-related disorders		An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)
http://purl.obolibrary.org/obo/MONDO_0006643	alcoholic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0021699	alcohol-induced disorders		A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.
http://purl.obolibrary.org/obo/MONDO_0006644	alcoholic liver cirrhosis	http://purl.obolibrary.org/obo/MONDO_0005155	cirrhosis of liver		A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.
http://purl.obolibrary.org/obo/MONDO_0006645	alcoholic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0100633	toxic polyneuropathy		Any polyneuropathy where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors.
http://purl.obolibrary.org/obo/MONDO_0006646	angioleiomyoma	http://purl.obolibrary.org/obo/MONDO_0003342	benign perivascular tumor		A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.
http://purl.obolibrary.org/obo/MONDO_0006647	anterior cerebral artery infarction	http://purl.obolibrary.org/obo/MONDO_0002679	cerebral infarction		Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.
http://purl.obolibrary.org/obo/MONDO_0006648	anterior compartment of tibia syndrome	http://purl.obolibrary.org/obo/MONDO_0004001	compartment syndrome		Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.
http://purl.obolibrary.org/obo/MONDO_0006649	anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0002135	optic nerve disorder		Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.
http://purl.obolibrary.org/obo/MONDO_0006650	anterior spinal artery syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)
http://purl.obolibrary.org/obo/MONDO_0006651	anterior uveitis	http://purl.obolibrary.org/obo/MONDO_0020283	uveitis		Inflammation of the iris and anterior chamber of the eye.
http://purl.obolibrary.org/obo/MONDO_0006652	anterolateral myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.
http://purl.obolibrary.org/obo/MONDO_0006653	anthracosilicosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.
http://purl.obolibrary.org/obo/MONDO_0006654	anthracosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.
http://purl.obolibrary.org/obo/MONDO_0006655	aortic valve prolapse	http://purl.obolibrary.org/obo/MONDO_0003803	aortic valve disorder		The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.
http://purl.obolibrary.org/obo/MONDO_0006656	aortitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.
http://purl.obolibrary.org/obo/MONDO_0006658	arteriolosclerosis	http://purl.obolibrary.org/obo/MONDO_0021661	coronary atherosclerosis		The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.
http://purl.obolibrary.org/obo/MONDO_0006659	arteriosclerosis obliterans	http://purl.obolibrary.org/obo/MONDO_0021661	coronary atherosclerosis		Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.
http://purl.obolibrary.org/obo/MONDO_0006660	arthus reaction	http://purl.obolibrary.org/obo/MONDO_0007004	type III hypersensitivity disease		A localized vasculitis resulting from deposition of antibody-antigen complexes.
http://purl.obolibrary.org/obo/MONDO_0006662	aseptic meningitis	http://purl.obolibrary.org/obo/MONDO_0021108	meningitis		Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.
http://purl.obolibrary.org/obo/MONDO_0006663	perinatal asphyxia	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.
http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.
http://purl.obolibrary.org/obo/MONDO_0006665	chronic atrophic gastritis	http://purl.obolibrary.org/obo/MONDO_0005001	chronic gastritis		Atrophic gastritis that is persistent and long-standing.
http://purl.obolibrary.org/obo/MONDO_0006666	atrophy of thyroid	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		Tissue degeneration and diminished size of the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0006668	bacterial conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		Inflammation of the conjunctiva caused by a variety of bacterial agents.
http://purl.obolibrary.org/obo/MONDO_0006669	bacterial endocarditis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Endocarditis that is caused by an infection with a bacterial agent.
http://purl.obolibrary.org/obo/MONDO_0006670	bacterial meningitis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.
http://purl.obolibrary.org/obo/MONDO_0006671	Bacteroides infectious disease	http://purl.obolibrary.org/obo/MONDO_0024389	anaerobic bacteria infectious disease		Infections with bacteria of the genus bacteroides.
http://purl.obolibrary.org/obo/MONDO_0006672	balanitis	http://purl.obolibrary.org/obo/MONDO_0002036	penile disorder		An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.
http://purl.obolibrary.org/obo/MONDO_0006673	pituitary gland basophil adenoma	http://purl.obolibrary.org/obo/MONDO_0006373	pituitary gland adenoma		An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.
http://purl.obolibrary.org/obo/MONDO_0006676	beriberi	http://purl.obolibrary.org/obo/MONDO_0042976	vitamin B deficiency		Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.
http://purl.obolibrary.org/obo/MONDO_0006677	bile reflux	http://purl.obolibrary.org/obo/MONDO_0004868	biliary tract disorder		Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.
http://purl.obolibrary.org/obo/MONDO_0006678	bladder calculus	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		A concretion in the urinary bladder.
http://purl.obolibrary.org/obo/MONDO_0006679	bladder neck obstruction	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.
http://purl.obolibrary.org/obo/MONDO_0006680	blue nevus	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.
http://purl.obolibrary.org/obo/MONDO_0006681	Borrelia infectious disease	http://purl.obolibrary.org/obo/MONDO_0021839	spirochaetales infections		Infections with bacteria of the genus borrelia.
http://purl.obolibrary.org/obo/MONDO_0006682	brachial plexus neuritis	http://purl.obolibrary.org/obo/MONDO_0006683	brachial plexus neuropathy		An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.
http://purl.obolibrary.org/obo/MONDO_0006683	brachial plexus neuropathy	http://purl.obolibrary.org/obo/MONDO_0024432	nerve plexus disorder		A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.
http://purl.obolibrary.org/obo/MONDO_0006684	brain edema	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)
http://purl.obolibrary.org/obo/MONDO_0006685	brain hypoxia - ischemia	http://purl.obolibrary.org/obo/MONDO_0005299	brain ischemia		A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.
http://purl.obolibrary.org/obo/MONDO_0006686	brain stem infarction	http://purl.obolibrary.org/obo/MONDO_1060198	ischemic stroke		Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
http://purl.obolibrary.org/obo/MONDO_0006687	burning mouth syndrome	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.
http://purl.obolibrary.org/obo/MONDO_0006688	byssinosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.
http://purl.obolibrary.org/obo/MONDO_0006690	carotid artery thrombosis	http://purl.obolibrary.org/obo/MONDO_0005269	carotid artery disorder		Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.
http://purl.obolibrary.org/obo/MONDO_0006692	central pontine myelinolysis	http://purl.obolibrary.org/obo/MONDO_0002562	demyelinating disease		A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.
http://purl.obolibrary.org/obo/MONDO_0006693	cerebral arterial disease	http://purl.obolibrary.org/obo/MONDO_0006808	intracranial arterial disease		Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.
http://purl.obolibrary.org/obo/MONDO_0006694	cerebral atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0005311	atherosclerosis		Atherosclerosis of the cerebral vasculature.
http://purl.obolibrary.org/obo/MONDO_0006696	cervix erosion	http://purl.obolibrary.org/obo/MONDO_0002256	cervix disorder		Loss or destruction of the epithelial lining of the uterine cervix.
http://purl.obolibrary.org/obo/MONDO_0006698	cholecystolithiasis	http://purl.obolibrary.org/obo/MONDO_0012672	cholelithiasis		Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.
http://purl.obolibrary.org/obo/MONDO_0006699	choledocholithiasis	http://purl.obolibrary.org/obo/MONDO_0012672	cholelithiasis		Presence or formation of gallstones in the common bile duct.
http://purl.obolibrary.org/obo/MONDO_0006700	choroid cancer	http://purl.obolibrary.org/obo/MONDO_0021258	choroid neoplasm		A malignant neoplasm involving the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0006701	chromophobe adenoma	http://purl.obolibrary.org/obo/MONDO_0006373	pituitary gland adenoma		An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes.
http://purl.obolibrary.org/obo/MONDO_0006702	chronic inflammatory demyelinating polyradiculoneuropathy	http://purl.obolibrary.org/obo/MONDO_0006915	polyradiculoneuropathy		A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.
http://purl.obolibrary.org/obo/MONDO_0006704	CNS demyelinating autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.
http://purl.obolibrary.org/obo/MONDO_0006705	Bacteroidaceae infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the family BACTEROIDACEAE.
http://purl.obolibrary.org/obo/MONDO_0006706	Bifidobacteriales infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.
http://purl.obolibrary.org/obo/MONDO_0006708	Desulfovibrionaceae infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the family Desulfovibrionaceae.
http://purl.obolibrary.org/obo/MONDO_0006709	common bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0021385	extrahepatic bile duct neoplasm		Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.
http://purl.obolibrary.org/obo/MONDO_0006710	complex partial epilepsy	http://purl.obolibrary.org/obo/MONDO_0005384	focal epilepsy		A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)
http://purl.obolibrary.org/obo/MONDO_0006711	constrictive pericarditis	http://purl.obolibrary.org/obo/MONDO_0005904	pericarditis		A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function.
http://purl.obolibrary.org/obo/MONDO_0006712	corneal edema	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		Hazy, swollen cornea.
http://purl.obolibrary.org/obo/MONDO_0006713	corneal neovascularization	http://purl.obolibrary.org/obo/MONDO_0003085	keratitis		New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.
http://purl.obolibrary.org/obo/MONDO_0006714	coronary aneurysm	http://purl.obolibrary.org/obo/MONDO_0005010	coronary artery disorder		Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.
http://purl.obolibrary.org/obo/MONDO_0006715	coronary stenosis	http://purl.obolibrary.org/obo/MONDO_0005010	coronary artery disorder		Narrowing of the coronary artery lumen diameter.
http://purl.obolibrary.org/obo/MONDO_0006716	coronary thrombosis	http://purl.obolibrary.org/obo/MONDO_0005010	coronary artery disorder		Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.
http://purl.obolibrary.org/obo/MONDO_0006717	cutaneous fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0002989	benign fibrous histiocytoma		A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.
http://purl.obolibrary.org/obo/MONDO_0006718	cutaneous syphilis	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)
http://purl.obolibrary.org/obo/MONDO_0006720	cystic, mucinous, and serous neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		Neoplasms containing cyst-like formations or producing mucin or serum.
http://purl.obolibrary.org/obo/MONDO_0006721	de Quervain disease	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.
http://purl.obolibrary.org/obo/MONDO_0006722	dental fluorosis	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.
http://purl.obolibrary.org/obo/MONDO_0006723	denture stomatitis	http://purl.obolibrary.org/obo/MONDO_0004842	stomatitis		Inflammation of the mouth due to denture irritation.
http://purl.obolibrary.org/obo/MONDO_0006726	diaphragmatic eventration	http://purl.obolibrary.org/obo/MONDO_0005728	diaphragm disorder		A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.
http://purl.obolibrary.org/obo/MONDO_0006727	diastolic heart failure	http://purl.obolibrary.org/obo/MONDO_0005009	congestive heart failure		Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.
http://purl.obolibrary.org/obo/MONDO_0006729	discrete subaortic stenosis	http://purl.obolibrary.org/obo/MONDO_0006987	subvalvular aortic stenosis		A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.
http://purl.obolibrary.org/obo/MONDO_0006730	drug psychosis	http://purl.obolibrary.org/obo/MONDO_0004630	substance-induced psychosis		Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.
http://purl.obolibrary.org/obo/MONDO_0006731	drug-induced akathisia	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.
http://purl.obolibrary.org/obo/MONDO_0006732	drug-induced dyskinesia	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)
http://purl.obolibrary.org/obo/MONDO_0006733	dry eye syndrome	http://purl.obolibrary.org/obo/MONDO_0004768	keratoconjunctivitis		A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.
http://purl.obolibrary.org/obo/MONDO_0006734	benign duodenal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021375	tumor of duodenum		A non-metastasizing neoplasm arising from the wall of the duodenum.
http://purl.obolibrary.org/obo/MONDO_0006735	duodenogastric reflux	http://purl.obolibrary.org/obo/MONDO_0007186	gastroesophageal reflux disease		Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach.
http://purl.obolibrary.org/obo/MONDO_0006736	dysplasia of cervix	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.
http://purl.obolibrary.org/obo/MONDO_0006737	dystocia	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		Slow or difficult obstetric labor or childbirth.
http://purl.obolibrary.org/obo/MONDO_0006738	eccrine acrospiroma	http://purl.obolibrary.org/obo/MONDO_0021489	benign neoplasm of sweat gland		A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.
http://purl.obolibrary.org/obo/MONDO_0006739	Ehrlich tumor carcinoma	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.
http://purl.obolibrary.org/obo/MONDO_0006740	empty sella syndrome	http://purl.obolibrary.org/obo/MONDO_0003381	pituitary gland disorder		Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0006741	encephalomalacia	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.
http://purl.obolibrary.org/obo/MONDO_0006742	endemic goiter	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.
http://purl.obolibrary.org/obo/MONDO_0006743	endocrine tuberculosis	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.
http://purl.obolibrary.org/obo/MONDO_0006744	endolymphatic hydrops	http://purl.obolibrary.org/obo/MONDO_0004900	peripheral vertigo		An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.
http://purl.obolibrary.org/obo/MONDO_0006745	endometrioid stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0011962	endometrial cancer		A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.
http://purl.obolibrary.org/obo/MONDO_0006746	endomyocardial fibrosis	http://purl.obolibrary.org/obo/MONDO_0005201	restrictive cardiomyopathy		A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.
http://purl.obolibrary.org/obo/MONDO_0006747	enterotoxemia	http://purl.obolibrary.org/obo/MONDO_0025003	goat disease		Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.
http://purl.obolibrary.org/obo/MONDO_0006749	mixed epithelioid and spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.
http://purl.obolibrary.org/obo/MONDO_0006751	Erysipelothrix infectious disease	http://purl.obolibrary.org/obo/MONDO_0021679	gram-positive bacterial infections		Infections with bacteria of the genus erysipelothrix.
http://purl.obolibrary.org/obo/MONDO_0006752	Erysipelothrix rhusiopathiae infectious disease	http://purl.obolibrary.org/obo/MONDO_0006751	Erysipelothrix infectious disease		A disease caused by infection with Erysipelothrix rhusiopathiae.
http://purl.obolibrary.org/obo/MONDO_0006753	Escherichia coli meningitis	http://purl.obolibrary.org/obo/MONDO_0006670	bacterial meningitis		A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)
http://purl.obolibrary.org/obo/MONDO_0006754	esophageal diverticulosis	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.
http://purl.obolibrary.org/obo/MONDO_0006755	euthyroid sick syndrome	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.
http://purl.obolibrary.org/obo/MONDO_0006757	extrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0006322	non-neoplastic bile duct disorder		Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.
http://purl.obolibrary.org/obo/MONDO_0006758	female genital tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Mycobacterium infections of the female reproductive tract (genitalia, female).
http://purl.obolibrary.org/obo/MONDO_0006759	femoral neuropathy	http://purl.obolibrary.org/obo/MONDO_0024334	peripheral nerve lesion		Neuropathy of the femoral nerve.
http://purl.obolibrary.org/obo/MONDO_0006760	fetal erythroblastosis	http://purl.obolibrary.org/obo/MONDO_0001245	microcytic anemia		A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.
http://purl.obolibrary.org/obo/MONDO_0006761	fibromuscular dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.
http://purl.obolibrary.org/obo/MONDO_0006762	freemartinism	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism).
http://purl.obolibrary.org/obo/MONDO_0006763	frozen shoulder	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.
http://purl.obolibrary.org/obo/MONDO_0006764	fungal meningitis	http://purl.obolibrary.org/obo/MONDO_0004796	infectious meningitis		Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.
http://purl.obolibrary.org/obo/MONDO_0006765	Fusobacterium infectious disease	http://purl.obolibrary.org/obo/MONDO_0024389	anaerobic bacteria infectious disease		Infections with bacteria of the genus fusobacterium.
http://purl.obolibrary.org/obo/MONDO_0006766	gait apraxia	http://purl.obolibrary.org/obo/MONDO_0000665	apraxia		Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.
http://purl.obolibrary.org/obo/MONDO_0006767	gastric antral vascular ectasia	http://purl.obolibrary.org/obo/MONDO_0021658	vascular ectasia		Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.
http://purl.obolibrary.org/obo/MONDO_0006769	gastroparesis	http://purl.obolibrary.org/obo/MONDO_0001318	functional gastric disease		Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.
http://purl.obolibrary.org/obo/MONDO_0006770	giant cell reparative granuloma	http://purl.obolibrary.org/obo/MONDO_0005674	bone giant cell tumor		A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.
http://purl.obolibrary.org/obo/MONDO_0006771	glossitis	http://purl.obolibrary.org/obo/MONDO_0001165	tongue disorder		Inflammation of the tongue.
http://purl.obolibrary.org/obo/MONDO_0006773	gonadal tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0006054	reproductive system neoplasm		Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.
http://purl.obolibrary.org/obo/MONDO_0006774	habitual spontaneous abortion	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Three or more consecutive spontaneous abortions.
http://purl.obolibrary.org/obo/MONDO_0006777	hairy tongue	http://purl.obolibrary.org/obo/MONDO_0001165	tongue disorder		A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.
http://purl.obolibrary.org/obo/MONDO_0006778	halo nevus	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		A benign melanocytic nevus with a halo appearance.
http://purl.obolibrary.org/obo/MONDO_0006779	heart aneurysm	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.
http://purl.obolibrary.org/obo/MONDO_0006780	heartwater disease	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium.
http://purl.obolibrary.org/obo/MONDO_0006781	Helicobacter pylori infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.
http://purl.obolibrary.org/obo/MONDO_0006782	hemometra	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		Blood-filled uterus.
http://purl.obolibrary.org/obo/MONDO_0006783	hemopneumothorax	http://purl.obolibrary.org/obo/MONDO_0002076	pneumothorax		Collection of air and blood in the pleural cavity.
http://purl.obolibrary.org/obo/MONDO_0006784	hemorrhagic disease of newborn	http://purl.obolibrary.org/obo/MONDO_0005137	nutritional disorder		A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.
http://purl.obolibrary.org/obo/MONDO_0006786	hepatic vein thrombosis	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon.
http://purl.obolibrary.org/obo/MONDO_0006787	hidrocystoma	http://purl.obolibrary.org/obo/MONDO_0021489	benign neoplasm of sweat gland		A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.
http://purl.obolibrary.org/obo/MONDO_0006789	hyperamylasemia	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		Abnormally high level of amylase in the blood.
http://purl.obolibrary.org/obo/MONDO_0006790	hypercementosis	http://purl.obolibrary.org/obo/MONDO_0002220	tooth hard tissue disease		A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0006791	hyperemesis gravidarum	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.
http://purl.obolibrary.org/obo/MONDO_0006792	hyperglobulinemic purpura	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.
http://purl.obolibrary.org/obo/MONDO_0006793	hyperpituitarism	http://purl.obolibrary.org/obo/MONDO_0024468	anterior pituitary gland disorder		Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.
http://purl.obolibrary.org/obo/MONDO_0006794	hypersensitivity vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.
http://purl.obolibrary.org/obo/MONDO_0006795	hypersplenism	http://purl.obolibrary.org/obo/MONDO_0002332	splenic disorder		Overactive functioning of the spleen, resulting in excessive destruction of blood cells.
http://purl.obolibrary.org/obo/MONDO_0006796	hypertensive encephalopathy	http://purl.obolibrary.org/obo/MONDO_0006810	intracranial hypertension		Encephalopathy resulting from hypertension.
http://purl.obolibrary.org/obo/MONDO_0006797	hypertensive retinopathy	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Retinopathy due to hypertension.
http://purl.obolibrary.org/obo/MONDO_0006798	hypervitaminosis A	http://purl.obolibrary.org/obo/MONDO_0003916	overnutrition		A symptom complex resulting from ingesting excessive amounts of vitamin A.
http://purl.obolibrary.org/obo/MONDO_0006799	hypothalamic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A primary or metastatic neoplasm that affects the hypothalamus.
http://purl.obolibrary.org/obo/MONDO_0006800	ideomotor apraxia	http://purl.obolibrary.org/obo/MONDO_0000665	apraxia		A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)
http://purl.obolibrary.org/obo/MONDO_0006801	ileal neoplasm	http://purl.obolibrary.org/obo/MONDO_0004251	small intestine neoplasm		A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0006802	inappropriate ADH syndrome	http://purl.obolibrary.org/obo/MONDO_0045072	ectopic hormone secretion syndrome associated with neoplasia		A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.
http://purl.obolibrary.org/obo/MONDO_0006803	inferior myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0005068	myocardial infarction		Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.
http://purl.obolibrary.org/obo/MONDO_0006804	inflammatory breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006256	invasive breast carcinoma		An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006805	intermediate coronary syndrome	http://purl.obolibrary.org/obo/MONDO_0005010	coronary artery disorder		Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.
http://purl.obolibrary.org/obo/MONDO_0006806	intermediate uveitis	http://purl.obolibrary.org/obo/MONDO_0020283	uveitis		Inflammation of the pars plana.
http://purl.obolibrary.org/obo/MONDO_0006807	intestinal perforation	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.
http://purl.obolibrary.org/obo/MONDO_0006808	intracranial arterial disease	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.
http://purl.obolibrary.org/obo/MONDO_0006809	intracranial embolism	http://purl.obolibrary.org/obo/MONDO_1060198	ischemic stroke		Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases.
http://purl.obolibrary.org/obo/MONDO_0006810	intracranial hypertension	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A finding characterized by increased cerebrospinal fluid pressure within the skull.
http://purl.obolibrary.org/obo/MONDO_0006811	intracranial hypotension	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)
http://purl.obolibrary.org/obo/MONDO_0006812	intracranial vasospasm	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).
http://purl.obolibrary.org/obo/MONDO_0006813	intradermal nevus	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.
http://purl.obolibrary.org/obo/MONDO_0006814	iritis	http://purl.obolibrary.org/obo/MONDO_0020283	uveitis		Inflammation of the iris.
http://purl.obolibrary.org/obo/MONDO_0006815	jejunal cancer	http://purl.obolibrary.org/obo/MONDO_0002564	jejunal neoplasm		A malignant neoplasm involving the jejunum.
http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		Any disorder of the joints.
http://purl.obolibrary.org/obo/MONDO_0006817	juxtacortical osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002628	peripheral osteosarcoma		A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.
http://purl.obolibrary.org/obo/MONDO_0006820	kidney cortex necrosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.
http://purl.obolibrary.org/obo/MONDO_0006821	kidney papillary necrosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.
http://purl.obolibrary.org/obo/MONDO_0006823	Klinefelter syndrome	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
http://purl.obolibrary.org/obo/MONDO_0006824	Krebs 2 carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		Carcinoma having known association to krebs2 gene mutation
http://purl.obolibrary.org/obo/MONDO_0006825	kuru	http://purl.obolibrary.org/obo/MONDO_0018926	human prion disease		A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)
http://purl.obolibrary.org/obo/MONDO_0006826	kwashiorkor	http://purl.obolibrary.org/obo/MONDO_0001371	protein-energy malnutrition		A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0006827	lateral medullary syndrome	http://purl.obolibrary.org/obo/MONDO_0006686	brain stem infarction		A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.
http://purl.obolibrary.org/obo/MONDO_0006828	nasal cavity and paranasal sinus lethal midline granuloma	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.
http://purl.obolibrary.org/obo/MONDO_0006829	leukemoid reaction	http://purl.obolibrary.org/obo/MONDO_0004959	plasma cell neoplasm		A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.
http://purl.obolibrary.org/obo/MONDO_0006830	leukoplakia of penis	http://purl.obolibrary.org/obo/MONDO_0043243	leukoplakia		A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.
http://purl.obolibrary.org/obo/MONDO_0006831	leukostasis	http://purl.obolibrary.org/obo/MONDO_0004805	leukocyte disorder		A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.
http://purl.obolibrary.org/obo/MONDO_0006833	lingual goiter	http://purl.obolibrary.org/obo/MONDO_0005397	goiter		Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.
http://purl.obolibrary.org/obo/MONDO_0006834	lip cancer	http://purl.obolibrary.org/obo/MONDO_0021249	lip neoplasm		A primary or metastatic malignant neoplasm involving the lip.
http://purl.obolibrary.org/obo/MONDO_0006835	minimal change disease	http://purl.obolibrary.org/obo/MONDO_0700328	podocytopathy		A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.
http://purl.obolibrary.org/obo/MONDO_0006836	Listeria meningitis	http://purl.obolibrary.org/obo/MONDO_0006670	bacterial meningitis		Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)
http://purl.obolibrary.org/obo/MONDO_0006837	low tension glaucoma	http://purl.obolibrary.org/obo/MONDO_0005338	open-angle glaucoma		A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.
http://purl.obolibrary.org/obo/MONDO_0006838	lupus vulgaris	http://purl.obolibrary.org/obo/MONDO_0021948	cutaneous tuberculosis		A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.
http://purl.obolibrary.org/obo/MONDO_0006839	Lutembacher syndrome	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.
http://purl.obolibrary.org/obo/MONDO_0006840	lymphangiectasis	http://purl.obolibrary.org/obo/MONDO_0021658	vascular ectasia		Dilatation of the lymphatic vessels.
http://purl.obolibrary.org/obo/MONDO_0006841	lymphangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0002013	lymphangioma		A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques.
http://purl.obolibrary.org/obo/MONDO_0006842	lymphangiomyoma	http://purl.obolibrary.org/obo/MONDO_0006359	neoplasm with perivascular epithelioid cell differentiation		A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.
http://purl.obolibrary.org/obo/MONDO_0006843	macular holes	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		A hole in the macula of the retina.
http://purl.obolibrary.org/obo/MONDO_0006844	magnesium deficiency	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)
http://purl.obolibrary.org/obo/MONDO_0006845	male genital tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006002	urogenital tuberculosis		Mycobacterium infections of the male reproductive tract (genitalia, male).
http://purl.obolibrary.org/obo/MONDO_0006846	malignant hypertension	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		Severe hypertension that is characterized by rapid onset of extremely high blood pressure and hypertension-mediated organ damage.
http://purl.obolibrary.org/obo/MONDO_0006847	malignant lymphatic vessel tumor	http://purl.obolibrary.org/obo/MONDO_0005157	lymphoid neoplasm		Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.
http://purl.obolibrary.org/obo/MONDO_0006848	marasmus	http://purl.obolibrary.org/obo/MONDO_0001371	protein-energy malnutrition		The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.
http://purl.obolibrary.org/obo/MONDO_0006849	mastitis	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men.
http://purl.obolibrary.org/obo/MONDO_0006850	maxillary sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0005841	maxillary neoplasm		A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0006851	meconium aspiration syndrome	http://purl.obolibrary.org/obo/MONDO_0024263	neonatal aspiration syndrome		A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.
http://purl.obolibrary.org/obo/MONDO_0006853	mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0008977	chondrosarcoma		A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.
http://purl.obolibrary.org/obo/MONDO_0006854	mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.
http://purl.obolibrary.org/obo/MONDO_0006855	mesenteric vascular occlusion	http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease		Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)
http://purl.obolibrary.org/obo/MONDO_0006856	mesothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003
http://purl.obolibrary.org/obo/MONDO_0006857	middle cerebral artery infarction	http://purl.obolibrary.org/obo/MONDO_0006693	cerebral arterial disease		Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.
http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease involving the mouth.
http://purl.obolibrary.org/obo/MONDO_0006859	mucinous cystadenoma	http://purl.obolibrary.org/obo/MONDO_0002369	cystadenoma		A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.
http://purl.obolibrary.org/obo/MONDO_0006861	myeloid sarcoma	http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification		A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0006862	myofascial pain syndrome	http://purl.obolibrary.org/obo/MONDO_0005336	myopathy		Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.
http://purl.obolibrary.org/obo/MONDO_0006863	myxosarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.
http://purl.obolibrary.org/obo/MONDO_0006864	necrotizing sialometaplasia	http://purl.obolibrary.org/obo/MONDO_0001142	salivary gland disorder		A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006865	necrotizing ulcerative gingivitis	http://purl.obolibrary.org/obo/MONDO_0002508	gingivitis		A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.
http://purl.obolibrary.org/obo/MONDO_0006866	neonatal myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0009688	myasthenia gravis		A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)
http://purl.obolibrary.org/obo/MONDO_0006868	neurogenic bowel	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.
http://purl.obolibrary.org/obo/MONDO_0006869	nodular goiter	http://purl.obolibrary.org/obo/MONDO_0005397	goiter		Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.
http://purl.obolibrary.org/obo/MONDO_0006871	non-gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005207	choriocarcinoma		A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.
http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease	http://purl.obolibrary.org/obo/MONDO_0005137	nutritional disorder		A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)
http://purl.obolibrary.org/obo/MONDO_0006874	obstructive jaundice	http://purl.obolibrary.org/obo/MONDO_0006322	non-neoplastic bile duct disorder		A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.
http://purl.obolibrary.org/obo/MONDO_0006875	ocular hypertension	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Abnormally high intraocular pressure.
http://purl.obolibrary.org/obo/MONDO_0006876	ocular tuberculosis	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.
http://purl.obolibrary.org/obo/MONDO_0006877	oophoritis	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.
http://purl.obolibrary.org/obo/MONDO_0006878	Moraxellaceae infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the family moraxellaceae.
http://purl.obolibrary.org/obo/MONDO_0006879	optic papillitis	http://purl.obolibrary.org/obo/MONDO_0005885	optic neuritis		Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)
http://purl.obolibrary.org/obo/MONDO_0006880	oral leukoedema	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0006881	orbital cellulitis	http://purl.obolibrary.org/obo/MONDO_0005230	cellulitis		Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.
http://purl.obolibrary.org/obo/MONDO_0006882	orchitis	http://purl.obolibrary.org/obo/MONDO_0002329	testicular disorder		Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.
http://purl.obolibrary.org/obo/MONDO_0006883	malignant superior sulcus neoplasm	http://purl.obolibrary.org/obo/MONDO_0008903	lung cancer		A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.
http://purl.obolibrary.org/obo/MONDO_0006884	panophthalmitis	http://purl.obolibrary.org/obo/MONDO_0004863	purulent endophthalmitis		Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.
http://purl.obolibrary.org/obo/MONDO_0006886	thyroid gland papillary and follicular carcinoma	http://purl.obolibrary.org/obo/MONDO_0005075	thyroid gland papillary carcinoma		A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)
http://purl.obolibrary.org/obo/MONDO_0006887	parametritis	http://purl.obolibrary.org/obo/MONDO_0045043	disorder of uterine broad ligament		Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.
http://purl.obolibrary.org/obo/MONDO_0006888	paraneoplastic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0018215	paraneoplastic neurologic syndrome		A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.
http://purl.obolibrary.org/obo/MONDO_0006889	paraphimosis	http://purl.obolibrary.org/obo/MONDO_0006904	phimosis		A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.
http://purl.obolibrary.org/obo/MONDO_0006890	parathyroid gland adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.
http://purl.obolibrary.org/obo/MONDO_0006891	partial motor epilepsy	http://purl.obolibrary.org/obo/MONDO_0005384	focal epilepsy		A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.
http://purl.obolibrary.org/obo/MONDO_0006892	partial sensory epilepsy	http://purl.obolibrary.org/obo/MONDO_0005384	focal epilepsy		A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).
http://purl.obolibrary.org/obo/MONDO_0006893	Pasteurella hemorrhagic septicemia	http://purl.obolibrary.org/obo/MONDO_0040998	Pasteurella multocida infectious disease		Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.
http://purl.obolibrary.org/obo/MONDO_0006894	patellofemoral pain syndrome	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.
http://purl.obolibrary.org/obo/MONDO_0006895	penile neoplasm	http://purl.obolibrary.org/obo/MONDO_0024582	male reproductive system neoplasm		A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006896	peptic esophagitis	http://purl.obolibrary.org/obo/MONDO_0004247	peptic ulcer disease		Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.
http://purl.obolibrary.org/obo/MONDO_0006897	periapical granuloma	http://purl.obolibrary.org/obo/MONDO_0004508	periapical periodontitis		Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.
http://purl.obolibrary.org/obo/MONDO_0006898	periarthritis	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		Inflammation of the tissues around a joint. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0006899	pericoronitis	http://purl.obolibrary.org/obo/MONDO_0005076	periodontitis		Inflammation of the gingiva surrounding the crown of a tooth.
http://purl.obolibrary.org/obo/MONDO_0006900	perinephritis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Inflammation of the connective and adipose tissues surrounding the kidney.
http://purl.obolibrary.org/obo/MONDO_0006901	peritoneal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.
http://purl.obolibrary.org/obo/MONDO_0006903	peroneal nerve paralysis	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		Paralysis of the nerves located in the legs.
http://purl.obolibrary.org/obo/MONDO_0006904	phimosis	http://purl.obolibrary.org/obo/MONDO_0002036	penile disorder		A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.
http://purl.obolibrary.org/obo/MONDO_0006905	pigmented spindle cell nevus	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.
http://purl.obolibrary.org/obo/MONDO_0006907	pilar sheath acanthoma	http://purl.obolibrary.org/obo/MONDO_0002093	acanthoma		A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes.
http://purl.obolibrary.org/obo/MONDO_0006908	pituitary apoplexy	http://purl.obolibrary.org/obo/MONDO_0019832	acquired pituitary hormone deficiency		A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.
http://purl.obolibrary.org/obo/MONDO_0006909	pituitary dwarfism	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.
http://purl.obolibrary.org/obo/MONDO_0006912	pneumatosis cystoides intestinalis	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		The presence of gas within the wall of the large or small intestine.
http://purl.obolibrary.org/obo/MONDO_0006913	pneumococcal meningitis	http://purl.obolibrary.org/obo/MONDO_0005114	pneumococcal infection		An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)
http://purl.obolibrary.org/obo/MONDO_0006915	polyradiculoneuropathy	http://purl.obolibrary.org/obo/MONDO_0002562	demyelinating disease		Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
http://purl.obolibrary.org/obo/MONDO_0006916	postcholecystectomy syndrome	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.
http://purl.obolibrary.org/obo/MONDO_0006917	posterior cerebral artery infarction	http://purl.obolibrary.org/obo/MONDO_0006693	cerebral arterial disease		Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).
http://purl.obolibrary.org/obo/MONDO_0006918	posterior uveitis	http://purl.obolibrary.org/obo/MONDO_0020283	uveitis		Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.
http://purl.obolibrary.org/obo/MONDO_0006919	potassium deficiency	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)
http://purl.obolibrary.org/obo/MONDO_0006920	prediabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0002908	glucose metabolism disease		A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.
http://purl.obolibrary.org/obo/MONDO_0006921	Actinomycetales infectious disease	http://purl.obolibrary.org/obo/MONDO_0021679	gram-positive bacterial infections		Infections with bacteria of the order actinomycetales.
http://purl.obolibrary.org/obo/MONDO_0006922	Anaplasmataceae infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the family anaplasmataceae.
http://purl.obolibrary.org/obo/MONDO_0006923	Bacillaceae infectious disease	http://purl.obolibrary.org/obo/MONDO_0021679	gram-positive bacterial infections		Infections with bacteria of the family bacillaceae.
http://purl.obolibrary.org/obo/MONDO_0006924	Bartonellaceae infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the family bartonellaceae.
http://purl.obolibrary.org/obo/MONDO_0006925	Fusobacteriaceae infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.
http://purl.obolibrary.org/obo/MONDO_0006926	haemophilus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the genus haemophilus.
http://purl.obolibrary.org/obo/MONDO_0006927	Rickettsiaceae infectious disease	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the family rickettsiaceae.
http://purl.obolibrary.org/obo/MONDO_0006929	Proteus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the genus proteus.
http://purl.obolibrary.org/obo/MONDO_0006930	pseudobulbar palsy	http://purl.obolibrary.org/obo/MONDO_0003569	cranial nerve neuropathy		A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.
http://purl.obolibrary.org/obo/MONDO_0006931	pulmonary coin lesion	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.
http://purl.obolibrary.org/obo/MONDO_0006932	pulmonary edema	http://purl.obolibrary.org/obo/MONDO_0001208	acute respiratory failure		Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure).
http://purl.obolibrary.org/obo/MONDO_0006933	pulmonary plasma cell granuloma	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.
http://purl.obolibrary.org/obo/MONDO_0006935	pulmonary subvalvular stenosis	http://purl.obolibrary.org/obo/MONDO_0006936	pulmonary valve stenosis		The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.
http://purl.obolibrary.org/obo/MONDO_0006936	pulmonary valve stenosis	http://purl.obolibrary.org/obo/MONDO_0003628	pulmonary valve disorder		The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.
http://purl.obolibrary.org/obo/MONDO_0006937	pulpitis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Inflammation of the dental pulp.
http://purl.obolibrary.org/obo/MONDO_0006938	pyelitis	http://purl.obolibrary.org/obo/MONDO_0001166	nephritis		Inflammation of the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0006939	pyelonephritis	http://purl.obolibrary.org/obo/MONDO_0006938	pyelitis		An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.
http://purl.obolibrary.org/obo/MONDO_0006940	radial nerve lesion	http://purl.obolibrary.org/obo/MONDO_0024334	peripheral nerve lesion		A peripheral nerve lesion that involves the radial nerve.
http://purl.obolibrary.org/obo/MONDO_0006941	rat-bite fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.
http://purl.obolibrary.org/obo/MONDO_0006944	renal aminoaciduria	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.
http://purl.obolibrary.org/obo/MONDO_0006945	renal artery obstruction	http://purl.obolibrary.org/obo/MONDO_0002286	renal artery disease		Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).
http://purl.obolibrary.org/obo/MONDO_0006946	renal osteodystrophy	http://purl.obolibrary.org/obo/MONDO_0005520	rickets		Abnormalities of bone mineral metabolism associated with chronic kidney disease.
http://purl.obolibrary.org/obo/MONDO_0006947	renovascular hypertension	http://purl.obolibrary.org/obo/MONDO_0001105	renal hypertension		High blood pressure secondary to renal artery stenosis.
http://purl.obolibrary.org/obo/MONDO_0006948	retinal artery occlusion	http://purl.obolibrary.org/obo/MONDO_0002089	retinal vascular occlusion		An occlusion of the retinal artery.
http://purl.obolibrary.org/obo/MONDO_0006949	retinal drusen	http://purl.obolibrary.org/obo/MONDO_0002175	degeneration of macula and posterior pole		Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.
http://purl.obolibrary.org/obo/MONDO_0006950	retinal vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.
http://purl.obolibrary.org/obo/MONDO_0006951	retinal vein occlusion	http://purl.obolibrary.org/obo/MONDO_0002089	retinal vascular occlusion		An occlusion of the retinal vein.
http://purl.obolibrary.org/obo/MONDO_0006952	retinopathy of prematurity	http://purl.obolibrary.org/obo/MONDO_1040041	FZD4-related exudative vitreoretinopathy		A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.
http://purl.obolibrary.org/obo/MONDO_0006953	Rh isoimmunization	http://purl.obolibrary.org/obo/MONDO_0002901	blood group incompatibility		The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.
http://purl.obolibrary.org/obo/MONDO_0006955	rheumatic heart disease	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.
http://purl.obolibrary.org/obo/MONDO_0006956	Rickettsiosis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		A group of infectious diseases that is caused by Rickettsia.
http://purl.obolibrary.org/obo/MONDO_0006957	root caries	http://purl.obolibrary.org/obo/MONDO_0002233	enamel caries		Dental caries involving the tooth root, cementum, or cervical area of the tooth.
http://purl.obolibrary.org/obo/MONDO_0006960	sciatic neuropathy	http://purl.obolibrary.org/obo/MONDO_0001397	mononeuropathy		Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)
http://purl.obolibrary.org/obo/MONDO_0006961	scrapie	http://purl.obolibrary.org/obo/MONDO_0005429	prion disease		A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.
http://purl.obolibrary.org/obo/MONDO_0006962	sebaceous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0037735	sebaceous gland cancer		An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.
http://purl.obolibrary.org/obo/MONDO_0006963	sebaceous gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0006607	sebaceous gland disorder		A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006964	secondary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001741	hyperparathyroidism		Overproduction of parathyroid hormone in response to influence external to the parathyroid glands.
http://purl.obolibrary.org/obo/MONDO_0006965	secondary hypertrophic osteoarthropathy	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0006966	secondary Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.
http://purl.obolibrary.org/obo/MONDO_0006968	shoulder impingement syndrome	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)
http://purl.obolibrary.org/obo/MONDO_0006969	sialadenitis	http://purl.obolibrary.org/obo/MONDO_0002052	lymphadenitis		Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.
http://purl.obolibrary.org/obo/MONDO_0006970	sialolithiasis	http://purl.obolibrary.org/obo/MONDO_0001142	salivary gland disorder		A concretion in the salivary gland.
http://purl.obolibrary.org/obo/MONDO_0006971	sigmoid neoplasm	http://purl.obolibrary.org/obo/MONDO_0005401	colonic neoplasm		Tumors or cancer of the sigmoid colon.
http://purl.obolibrary.org/obo/MONDO_0006972	silo filler disease	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.
http://purl.obolibrary.org/obo/MONDO_0006973	skin appendage carcinoma	http://purl.obolibrary.org/obo/MONDO_0002656	skin carcinoma		A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.
http://purl.obolibrary.org/obo/MONDO_0006974	small cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0006975	smooth muscle tumor	http://purl.obolibrary.org/obo/MONDO_0021545	myomatous neoplasm		A benign or malignant myomatous neoplasm arising from smooth muscle.
http://purl.obolibrary.org/obo/MONDO_0006976	somatostatinoma	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.
http://purl.obolibrary.org/obo/MONDO_0006977	spermatocele	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.
http://purl.obolibrary.org/obo/MONDO_0006978	splenic infarction	http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder		Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)
http://purl.obolibrary.org/obo/MONDO_0006979	steatitis	http://purl.obolibrary.org/obo/MONDO_0700103	nutritional deficiency disease, non-human animal		A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)
http://purl.obolibrary.org/obo/MONDO_0006980	struma ovarii	http://purl.obolibrary.org/obo/MONDO_0002372	ovarian monodermal and highly specialized teratoma		An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).
http://purl.obolibrary.org/obo/MONDO_0006981	subacute bacterial endocarditis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.
http://purl.obolibrary.org/obo/MONDO_0006982	subacute thyroiditis	http://purl.obolibrary.org/obo/MONDO_0001949	acute thyroiditis		Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.
http://purl.obolibrary.org/obo/MONDO_0006983	subclavian steal syndrome	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.
http://purl.obolibrary.org/obo/MONDO_0006984	subdural empyema	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.
http://purl.obolibrary.org/obo/MONDO_0006986	substernal goiter	http://purl.obolibrary.org/obo/MONDO_0005397	goiter		An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.
http://purl.obolibrary.org/obo/MONDO_0006987	subvalvular aortic stenosis	http://purl.obolibrary.org/obo/MONDO_0042981	aortic valve stenosis		An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.
http://purl.obolibrary.org/obo/MONDO_0006988	sulfhemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0044348	hemoglobinopathy		A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)
http://purl.obolibrary.org/obo/MONDO_0006989	suppurative periapical periodontitis	http://purl.obolibrary.org/obo/MONDO_0004508	periapical periodontitis		Localized collection of pus in the tissues that enclose the root of a tooth.
http://purl.obolibrary.org/obo/MONDO_0006990	suppurative uveitis	http://purl.obolibrary.org/obo/MONDO_0020283	uveitis		Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.
http://purl.obolibrary.org/obo/MONDO_0006992	syphilitic aortitis	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.
http://purl.obolibrary.org/obo/MONDO_0006993	systolic heart failure	http://purl.obolibrary.org/obo/MONDO_0005009	congestive heart failure		Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.
http://purl.obolibrary.org/obo/MONDO_0006994	tarsal tunnel syndrome	http://purl.obolibrary.org/obo/MONDO_0006997	tibial neuropathy		Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.
http://purl.obolibrary.org/obo/MONDO_0006995	tethered spinal cord syndrome	http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder		A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.
http://purl.obolibrary.org/obo/MONDO_0006996	thyroid crisis	http://purl.obolibrary.org/obo/MONDO_0004425	hyperthyroidism		Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.
http://purl.obolibrary.org/obo/MONDO_0006997	tibial neuropathy	http://purl.obolibrary.org/obo/MONDO_0001397	mononeuropathy		Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)
http://purl.obolibrary.org/obo/MONDO_0006998	tonsil cancer	http://purl.obolibrary.org/obo/MONDO_0021250	tonsil neoplasm		A primary or metastatic malignant neoplasm that affects the tonsil.
http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A disease involving the calcareous tooth.
http://purl.obolibrary.org/obo/MONDO_0007000	Treponema infectious disease	http://purl.obolibrary.org/obo/MONDO_0021839	spirochaetales infections		An disease caused by infection with Treponema.
http://purl.obolibrary.org/obo/MONDO_0007001	tricuspid valve prolapse	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.
http://purl.obolibrary.org/obo/MONDO_0007002	trochlear nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A disease involving the trochlear nerve.
http://purl.obolibrary.org/obo/MONDO_0007004	type III hypersensitivity disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.
http://purl.obolibrary.org/obo/MONDO_0007005	ulcerative proctosigmoiditis	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Inflammation of the rectum and the distal portion of the colon.
http://purl.obolibrary.org/obo/MONDO_0007006	ulnar neuropathy	http://purl.obolibrary.org/obo/MONDO_0006683	brachial plexus neuropathy		Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)
http://purl.obolibrary.org/obo/MONDO_0007007	Ureaplasma urethritis	http://purl.obolibrary.org/obo/MONDO_0005297	urethritis		Infections with bacteria of the genus ureaplasma.
http://purl.obolibrary.org/obo/MONDO_0007008	uremia	http://purl.obolibrary.org/obo/MONDO_0001106	kidney failure		A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.
http://purl.obolibrary.org/obo/MONDO_0007009	ureterolithiasis	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.
http://purl.obolibrary.org/obo/MONDO_0007011	uveoparotid fever	http://purl.obolibrary.org/obo/MONDO_0019338	sarcoidosis		A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.
http://purl.obolibrary.org/obo/MONDO_0007012	variant Creutzfeldt-Jakob disease	http://purl.obolibrary.org/obo/MONDO_0018686	acquired Creutzfeldt-Jakob disease		A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.
http://purl.obolibrary.org/obo/MONDO_0007013	vasculogenic impotence	http://purl.obolibrary.org/obo/MONDO_0005362	erectile dysfunction		Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.
http://purl.obolibrary.org/obo/MONDO_0007014	vibrio infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the genus vibrio.
http://purl.obolibrary.org/obo/MONDO_0007015	viral meningitis	http://purl.obolibrary.org/obo/MONDO_0006662	aseptic meningitis		Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.
http://purl.obolibrary.org/obo/MONDO_0007016	vitamin A deficiency	http://purl.obolibrary.org/obo/MONDO_0024298	vitamin deficiency disorder		Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.
http://purl.obolibrary.org/obo/MONDO_0007017	vitreous detachment	http://purl.obolibrary.org/obo/MONDO_0020246	inherited vitreoretinopathy		Detachment of the vitreous humor from the retina.
http://purl.obolibrary.org/obo/MONDO_0007018	vulvitis	http://purl.obolibrary.org/obo/MONDO_0002187	vulvar disease		Inflammation of the vulva. It is characterized by pruritus and painful urination.
http://purl.obolibrary.org/obo/MONDO_0007019	vulvovaginitis	http://purl.obolibrary.org/obo/MONDO_0007018	vulvitis		An inflammatory pathologic process that affects the vulva and the vagina.
http://purl.obolibrary.org/obo/MONDO_0007020	Wernicke encephalopathy	http://purl.obolibrary.org/obo/MONDO_0021698	alcohol-related disorders		An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)
http://purl.obolibrary.org/obo/MONDO_0007022	xanthogranulomatous pyelonephritis	http://purl.obolibrary.org/obo/MONDO_0001110	chronic pyelonephritis		Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.
http://purl.obolibrary.org/obo/MONDO_0007023	Yersinia infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the genus yersinia.
http://purl.obolibrary.org/obo/MONDO_0007024	Yersinia pseudotuberculosis infectious disease	http://purl.obolibrary.org/obo/MONDO_0007023	Yersinia infectious disease		Infections with bacteria of the species yersinia pseudotuberculosis.
http://purl.obolibrary.org/obo/MONDO_0007025	chancre	http://purl.obolibrary.org/obo/MONDO_0005976	syphilis		The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.
http://purl.obolibrary.org/obo/MONDO_0007027	metabolic dysfunction-associated steatohepatitis	http://purl.obolibrary.org/obo/MONDO_0013209	metabolic dysfunction-associated steatotic liver disease		Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD).
http://purl.obolibrary.org/obo/MONDO_0007028	rotator cuff syndrome	http://purl.obolibrary.org/obo/MONDO_0020120	skeletal muscle disorder		Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.
http://purl.obolibrary.org/obo/MONDO_0007029	branchio-oto-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
http://purl.obolibrary.org/obo/MONDO_0007032	prune belly syndrome	http://purl.obolibrary.org/obo/MONDO_0018559	fetal lower urinary tract obstruction		Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.
http://purl.obolibrary.org/obo/MONDO_0007033	abducens nerve palsy	http://purl.obolibrary.org/obo/MONDO_0020594	abducens nerve disorder		Paralysis of the abducens nerve.
http://purl.obolibrary.org/obo/MONDO_0007034	Adams-Oliver syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.
http://purl.obolibrary.org/obo/MONDO_0007035	acanthosis nigricans	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.
http://purl.obolibrary.org/obo/MONDO_0007036	Achard syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.
http://purl.obolibrary.org/obo/MONDO_0007037	achondroplasia	http://purl.obolibrary.org/obo/MONDO_0019685	FGFR3-related chondrodysplasia		Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0007040	Sakati-Nyhan syndrome	http://purl.obolibrary.org/obo/MONDO_0000078	acrocephalopolysyndactyly		An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.
http://purl.obolibrary.org/obo/MONDO_0007042	Saethre-Chotzen syndrome	http://purl.obolibrary.org/obo/MONDO_0019796	acrocephalosyndactyly		Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
http://purl.obolibrary.org/obo/MONDO_0007043	Pfeiffer syndrome	http://purl.obolibrary.org/obo/MONDO_0000078	acrocephalopolysyndactyly		Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
http://purl.obolibrary.org/obo/MONDO_0007045	acrofacial dysostosis, Catania type	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.
http://purl.obolibrary.org/obo/MONDO_0007046	hereditary papulotranslucent acrokeratoderma	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.
http://purl.obolibrary.org/obo/MONDO_0007047	punctate palmoplantar keratoderma type III	http://purl.obolibrary.org/obo/MONDO_0017675	punctate palmoplantar keratoderma		Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later
http://purl.obolibrary.org/obo/MONDO_0007048	acrokeratosis verruciformis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.
http://purl.obolibrary.org/obo/MONDO_0007051	acromegaloid facial appearance syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.
http://purl.obolibrary.org/obo/MONDO_0007055	Acromicric dysplasia	http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia		A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
http://purl.obolibrary.org/obo/MONDO_0007056	acroosteolysis	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		A condition that is characterized by degeneration of the distal phalanges.
http://purl.obolibrary.org/obo/MONDO_0007057	acroosteolysis dominant type	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present.
http://purl.obolibrary.org/obo/MONDO_0007059	acrorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
http://purl.obolibrary.org/obo/MONDO_0007062	adactylia, unilateral	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
http://purl.obolibrary.org/obo/MONDO_0007064	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
http://purl.obolibrary.org/obo/MONDO_0007067	pyruvate kinase hyperactivity	http://purl.obolibrary.org/obo/MONDO_0016789	pyruvate metabolism disorder		Autosomal dominant phenotype characterized by increase of red blood cell ATP.
http://purl.obolibrary.org/obo/MONDO_0007068	adenylosuccinate lyase deficiency	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
http://purl.obolibrary.org/obo/MONDO_0007070	adiposis dolorosa	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0007072	ADULT syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.
http://purl.obolibrary.org/obo/MONDO_0007074	ainhum	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.
http://purl.obolibrary.org/obo/MONDO_0007077	Tietz syndrome	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
http://purl.obolibrary.org/obo/MONDO_0007078	pseudohypoparathyroidism type 1A	http://purl.obolibrary.org/obo/MONDO_0019992	pseudohypoparathyroidism		A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).
http://purl.obolibrary.org/obo/MONDO_0007079	alcohol dependence	http://purl.obolibrary.org/obo/MONDO_0021698	alcohol-related disorders		Physical and psychological dependence on alcohol.
http://purl.obolibrary.org/obo/MONDO_0007080	glucocorticoid-remediable aldosteronism	http://purl.obolibrary.org/obo/MONDO_0016525	familial hyperaldosteronism		Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
http://purl.obolibrary.org/obo/MONDO_0007083	autosomal dominant palmoplantar keratoderma and congenital alopecia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
http://purl.obolibrary.org/obo/MONDO_0007085	alopecia-epilepsy-pyorrhea-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007086	autosomal dominant Alport syndrome	http://purl.obolibrary.org/obo/MONDO_0018965	Alport syndrome		Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.
http://purl.obolibrary.org/obo/MONDO_0007089	Alzheimer disease 2	http://purl.obolibrary.org/obo/MONDO_0100087	familial Alzheimer disease		An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.
http://purl.obolibrary.org/obo/MONDO_0007092	amelogenesis imperfecta type 1B	http://purl.obolibrary.org/obo/MONDO_0015047	amelogenesis imperfecta type 1		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.
http://purl.obolibrary.org/obo/MONDO_0007093	hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	http://purl.obolibrary.org/obo/MONDO_0019507	amelogenesis imperfecta		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.
http://purl.obolibrary.org/obo/MONDO_0007094	amelogenesis imperfecta type 1A	http://purl.obolibrary.org/obo/MONDO_0015047	amelogenesis imperfecta type 1		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.
http://purl.obolibrary.org/obo/MONDO_0007100	familial amyloid neuropathy	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
http://purl.obolibrary.org/obo/MONDO_0007108	anal canal carcinoma	http://purl.obolibrary.org/obo/MONDO_0018516	epithelial tumor of anal canal		A carcinoma that arises from epithelial cells of the anal canal
http://purl.obolibrary.org/obo/MONDO_0007112	interventricular septum aneurysm	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.
http://purl.obolibrary.org/obo/MONDO_0007113	Angelman syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0007114	Angel-shaped phalango-epiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia		A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
http://purl.obolibrary.org/obo/MONDO_0007118	isolated anhidrosis with normal sweat glands	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.
http://purl.obolibrary.org/obo/MONDO_0007120	aniridia-absent patella syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
http://purl.obolibrary.org/obo/MONDO_0007122	anisocoria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.
http://purl.obolibrary.org/obo/MONDO_0007124	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
http://purl.obolibrary.org/obo/MONDO_0007125	ankyloglossia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.
http://purl.obolibrary.org/obo/MONDO_0007127	diffuse idiopathic skeletal hyperostosis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.
http://purl.obolibrary.org/obo/MONDO_0007130	congenital total pulmonary venous return anomaly	http://purl.obolibrary.org/obo/MONDO_0017705	congenital pulmonary venous return anomaly		Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.
http://purl.obolibrary.org/obo/MONDO_0007131	anonychia with flexural pigmentation	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007134	Cooks syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.
http://purl.obolibrary.org/obo/MONDO_0007137	isolated congenital anosmia	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.
http://purl.obolibrary.org/obo/MONDO_0007142	Townes-Brocks syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
http://purl.obolibrary.org/obo/MONDO_0007143	aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
http://purl.obolibrary.org/obo/MONDO_0007147	obstructive sleep apnea syndrome	http://purl.obolibrary.org/obo/MONDO_0005296	sleep apnea syndrome		Cessation of air flow during sleep due to upper airway obstruction.
http://purl.obolibrary.org/obo/MONDO_0007150	arcus senilis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.
http://purl.obolibrary.org/obo/MONDO_0007152	arrhythmogenic right ventricular dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.
http://purl.obolibrary.org/obo/MONDO_0007154	arteriovenous malformations of the brain	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.
http://purl.obolibrary.org/obo/MONDO_0007159	arthrogryposis-like hand anomaly-sensorineural deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
http://purl.obolibrary.org/obo/MONDO_0007163	episodic ataxia type 2	http://purl.obolibrary.org/obo/MONDO_0100254	CACNA1A-related complex neurodevelopmental disorder		A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
http://purl.obolibrary.org/obo/MONDO_0007164	spastic ataxia 1	http://purl.obolibrary.org/obo/MONDO_0017846	autosomal dominant spastic ataxia		Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.
http://purl.obolibrary.org/obo/MONDO_0007165	spastic ataxia 7	http://purl.obolibrary.org/obo/MONDO_0017846	autosomal dominant spastic ataxia		Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.
http://purl.obolibrary.org/obo/MONDO_0007167	atelosteogenesis type I	http://purl.obolibrary.org/obo/MONDO_1060173	FLNB-associated autosomal dominant filamin related bone disorder		A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
http://purl.obolibrary.org/obo/MONDO_0007168	atelosteogenesis type III	http://purl.obolibrary.org/obo/MONDO_1060173	FLNB-associated autosomal dominant filamin related bone disorder		A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
http://purl.obolibrary.org/obo/MONDO_0007172	atrial septal defect 1	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		An atrial heart septal defect type 1 associated with variation in the region 5p.
http://purl.obolibrary.org/obo/MONDO_0007173	atrial septal defect 7	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
http://purl.obolibrary.org/obo/MONDO_0007174	Lown-Ganong-Levine syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).
http://purl.obolibrary.org/obo/MONDO_0007176	helicoid peripapillary chorioretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
http://purl.obolibrary.org/obo/MONDO_0007177	auriculoosteodysplasia	http://purl.obolibrary.org/obo/MONDO_0002081	musculoskeletal system disorder		Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.
http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).
http://purl.obolibrary.org/obo/MONDO_0007182	Machado-Joseph disease	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.
http://purl.obolibrary.org/obo/MONDO_0007185	Banki syndrome	http://purl.obolibrary.org/obo/MONDO_0001411	synostosis		Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.
http://purl.obolibrary.org/obo/MONDO_0007186	gastroesophageal reflux disease	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.
http://purl.obolibrary.org/obo/MONDO_0007187	nevoid basal cell carcinoma syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
http://purl.obolibrary.org/obo/MONDO_0007188	primary basilar invagination	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.
http://purl.obolibrary.org/obo/MONDO_0007191	Behcet disease	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.
http://purl.obolibrary.org/obo/MONDO_0007198	Ascher syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
http://purl.obolibrary.org/obo/MONDO_0007200	blepharonasofacial malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).
http://purl.obolibrary.org/obo/MONDO_0007202	blepharoptosis-myopia-ectopia lentis syndrome	http://purl.obolibrary.org/obo/MONDO_0001176	lens disorder		This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia.
http://purl.obolibrary.org/obo/MONDO_0007203	blue rubber bleb nevus	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
http://purl.obolibrary.org/obo/MONDO_0007207	Böök syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.
http://purl.obolibrary.org/obo/MONDO_0007208	Boomerang dysplasia	http://purl.obolibrary.org/obo/MONDO_1060173	FLNB-associated autosomal dominant filamin related bone disorder		A rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
http://purl.obolibrary.org/obo/MONDO_0007209	Weismann-Netter syndrome	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.
http://purl.obolibrary.org/obo/MONDO_0007211	brachydactyly-arterial hypertension syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.
http://purl.obolibrary.org/obo/MONDO_0007212	brachydactyly-long thumb syndrome	http://purl.obolibrary.org/obo/MONDO_0016432	heart-hand syndrome		Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.
http://purl.obolibrary.org/obo/MONDO_0007213	Ballard syndrome	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.
http://purl.obolibrary.org/obo/MONDO_0007214	brachydactyly-preaxial hallux varus syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.
http://purl.obolibrary.org/obo/MONDO_0007215	brachydactyly type A1	http://purl.obolibrary.org/obo/MONDO_0975810	short stature with nonspecific skeletal abnormalities		A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
http://purl.obolibrary.org/obo/MONDO_0007216	brachydactyly type A2	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.
http://purl.obolibrary.org/obo/MONDO_0007218	brachydactyly type A4	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.
http://purl.obolibrary.org/obo/MONDO_0007219	Osebold-Remondini syndrome	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007220	brachydactyly type B1	http://purl.obolibrary.org/obo/MONDO_0019676	brachydactyly type B		Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.
http://purl.obolibrary.org/obo/MONDO_0007223	brachydactyly type E1	http://purl.obolibrary.org/obo/MONDO_0019677	brachydactyly type E		Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.
http://purl.obolibrary.org/obo/MONDO_0007225	fibular aplasia-ectrodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.
http://purl.obolibrary.org/obo/MONDO_0007226	brachydactyly-nystagmus-cerebellar ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.
http://purl.obolibrary.org/obo/MONDO_0007230	Brachymorphism-onychodysplasia-dysphalangism syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.
http://purl.obolibrary.org/obo/MONDO_0007231	brachytelephalangy-dysmorphism-Kallmann syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.
http://purl.obolibrary.org/obo/MONDO_0007235	branchiooculofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
http://purl.obolibrary.org/obo/MONDO_0007237	familial juvenile hypertrophy of the breast	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.
http://purl.obolibrary.org/obo/MONDO_0007239	epidermolytic ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017266	keratinopathic ichthyosis		A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
http://purl.obolibrary.org/obo/MONDO_0007240	progressive familial heart block, type 1A	http://purl.obolibrary.org/obo/MONDO_1010181	SCN5A-related cardiac rhythm disorder		An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.
http://purl.obolibrary.org/obo/MONDO_0007243	Burkitt lymphoma	http://purl.obolibrary.org/obo/MONDO_0017595	aggressive B-cell non-Hodgkin lymphoma		A rare form of malignant mature B-cell non-Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0007244	Caffey disease	http://purl.obolibrary.org/obo/MONDO_0019702	neonatal osteosclerotic dysplasia		Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
http://purl.obolibrary.org/obo/MONDO_0007245	cafe au lait spots, multiple	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.
http://purl.obolibrary.org/obo/MONDO_0007248	hereditary painful callosities	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.
http://purl.obolibrary.org/obo/MONDO_0007249	camptobrachydactyly	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
http://purl.obolibrary.org/obo/MONDO_0007250	camptodactyly of fingers	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.
http://purl.obolibrary.org/obo/MONDO_0007251	campomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).
http://purl.obolibrary.org/obo/MONDO_0007252	Gordon syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
http://purl.obolibrary.org/obo/MONDO_0007254	breast cancer	http://purl.obolibrary.org/obo/MONDO_0003274	thoracic cancer		A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.
http://purl.obolibrary.org/obo/MONDO_0007256	hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0018531	carcinoma of liver and intrahepatic biliary tract		A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.
http://purl.obolibrary.org/obo/MONDO_0007259	craniofaciofrontodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.
http://purl.obolibrary.org/obo/MONDO_0007266	hypertrophic cardiomyopathy 2	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
http://purl.obolibrary.org/obo/MONDO_0007267	hypertrophic cardiomyopathy 3	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.
http://purl.obolibrary.org/obo/MONDO_0007268	hypertrophic cardiomyopathy 4	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0007269	dilated cardiomyopathy 1A	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.
http://purl.obolibrary.org/obo/MONDO_0007270	cardiomyopathy, familial restrictive, 1	http://purl.obolibrary.org/obo/MONDO_0016340	familial restrictive cardiomyopathy		Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.
http://purl.obolibrary.org/obo/MONDO_0007271	familial cutaneous collagenoma	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.
http://purl.obolibrary.org/obo/MONDO_0007272	hereditary hypercarotenemia and vitamin A deficiency	http://purl.obolibrary.org/obo/MONDO_0017758	disorder of vitamin and non-protein cofactor absorption and transport		Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.
http://purl.obolibrary.org/obo/MONDO_0007273	pheochromocytoma/paraganglioma syndrome 4	http://purl.obolibrary.org/obo/MONDO_0017366	hereditary pheochromocytoma-paraganglioma		An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHB gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).
http://purl.obolibrary.org/obo/MONDO_0007275	carpal tunnel syndrome	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.
http://purl.obolibrary.org/obo/MONDO_0007276	cat-eye syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
http://purl.obolibrary.org/obo/MONDO_0007277	cataract-aberrant oral frenula-growth delay syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0007278	cataract 32 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		A cataract that has material basis in mutation in the region 14q22-q23.
http://purl.obolibrary.org/obo/MONDO_0007279	cataract 7	http://purl.obolibrary.org/obo/MONDO_0020374	cerulean cataract		A cataract that has material basis in variation in the region 17q24.
http://purl.obolibrary.org/obo/MONDO_0007280	cataract 8 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		A cataract that has material basis in variation in the region 1pter-p36.13.
http://purl.obolibrary.org/obo/MONDO_0007281	cataract 4 multiple types	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.
http://purl.obolibrary.org/obo/MONDO_0007282	cataract 29	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract that has material basis in variation in the region 2pter-p24.
http://purl.obolibrary.org/obo/MONDO_0007283	cataract 42	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.
http://purl.obolibrary.org/obo/MONDO_0007284	cataract 20 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene.
http://purl.obolibrary.org/obo/MONDO_0007285	cataract 1 multiple types	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.
http://purl.obolibrary.org/obo/MONDO_0007286	cataract 30	http://purl.obolibrary.org/obo/MONDO_0020377	early-onset partial cataract		A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.
http://purl.obolibrary.org/obo/MONDO_0007287	cataract 41	http://purl.obolibrary.org/obo/MONDO_0020376	early-onset nuclear cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.
http://purl.obolibrary.org/obo/MONDO_0007288	cataract 6 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.
http://purl.obolibrary.org/obo/MONDO_0007289	cataract 13 with adult I phenotype	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
http://purl.obolibrary.org/obo/MONDO_0007290	cataract 5 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.
http://purl.obolibrary.org/obo/MONDO_0007293	leukocyte adhesion deficiency 1	http://purl.obolibrary.org/obo/MONDO_0017570	leukocyte adhesion deficiency		Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.
http://purl.obolibrary.org/obo/MONDO_0007294	central core myopathy	http://purl.obolibrary.org/obo/MONDO_0100196	TPM2-related myopathy		An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.
http://purl.obolibrary.org/obo/MONDO_0007296	spinocerebellar ataxia type 31	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
http://purl.obolibrary.org/obo/MONDO_0007297	ADan amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018591	ITM2B amyloidosis		A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
http://purl.obolibrary.org/obo/MONDO_0007298	spinocerebellar ataxia type 29	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0007300	cerebral sarcoma	http://purl.obolibrary.org/obo/MONDO_0002216	brain sarcoma		A sarcoma involving a telencephalon.
http://purl.obolibrary.org/obo/MONDO_0007301	cerebrocostomandibular syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
http://purl.obolibrary.org/obo/MONDO_0007303	cervical rib disease	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A rib that is attached to a cervical vertebra or enlarged transverse processes.
http://purl.obolibrary.org/obo/MONDO_0007306	Klippel-Feil syndrome 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001029	Klippel-Feil syndrome		Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.
http://purl.obolibrary.org/obo/MONDO_0007307	Charcot-Marie-Tooth disease type 1B	http://purl.obolibrary.org/obo/MONDO_0019011	Charcot-Marie-Tooth disease type 1		A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.
http://purl.obolibrary.org/obo/MONDO_0007308	Charcot-Marie-Tooth disease type 2A1	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
http://purl.obolibrary.org/obo/MONDO_0007309	Charcot-Marie-Tooth disease type 1A	http://purl.obolibrary.org/obo/MONDO_0016950	partial duplication of the short arm of chromosome 17		Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.
http://purl.obolibrary.org/obo/MONDO_0007311	Charcot-Marie-Tooth disease type 1E	http://purl.obolibrary.org/obo/MONDO_0019011	Charcot-Marie-Tooth disease type 1		A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
http://purl.obolibrary.org/obo/MONDO_0007313	cheilitis glandularis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.
http://purl.obolibrary.org/obo/MONDO_0007315	cherubism	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.
http://purl.obolibrary.org/obo/MONDO_0007318	Alagille syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
http://purl.obolibrary.org/obo/MONDO_0007319	chondrocalcinosis 2	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).
http://purl.obolibrary.org/obo/MONDO_0007321	autosomal dominant chondrodysplasia punctata	http://purl.obolibrary.org/obo/MONDO_0015775	non-rhizomelic chondrodysplasia punctata		Autosomal dominant form of chondrodysplasia punctata.
http://purl.obolibrary.org/obo/MONDO_0007330	congenital pseudoarthrosis of clavicle	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.
http://purl.obolibrary.org/obo/MONDO_0007335	orofacial cleft 1	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		Cleft lip with or without cleft palate mapped to chromosome 6p24.
http://purl.obolibrary.org/obo/MONDO_0007336	isolated cleft palate	http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate		A cleft palate that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0007337	cleft palate-lateral synechia syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.
http://purl.obolibrary.org/obo/MONDO_0007338	cleft soft palate	http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate		Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.
http://purl.obolibrary.org/obo/MONDO_0007339	blepharocheilodontic syndrome	http://purl.obolibrary.org/obo/MONDO_0020161	congenital ectropion		An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.
http://purl.obolibrary.org/obo/MONDO_0007340	cleidocranial dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.
http://purl.obolibrary.org/obo/MONDO_0007341	cleidorhizomelic syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0007342	clubfoot	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.
http://purl.obolibrary.org/obo/MONDO_0007344	cluster headache, familial	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0007345	aorta coarctation	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.
http://purl.obolibrary.org/obo/MONDO_0007349	familial cold autoinflammatory syndrome 1	http://purl.obolibrary.org/obo/MONDO_0018768	familial cold autoinflammatory syndrome		Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.
http://purl.obolibrary.org/obo/MONDO_0007352	renal coloboma syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
http://purl.obolibrary.org/obo/MONDO_0007353	coloboma of macula-brachydactyly type B syndrome	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.
http://purl.obolibrary.org/obo/MONDO_0007362	cone-rod dystrophy 2	http://purl.obolibrary.org/obo/MONDO_1040064	CRX-related retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.
http://purl.obolibrary.org/obo/MONDO_0007365	seizures, benign familial neonatal, 1	http://purl.obolibrary.org/obo/MONDO_0016027	benign neonatal seizures		Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.
http://purl.obolibrary.org/obo/MONDO_0007368	familial benign copper deficiency	http://purl.obolibrary.org/obo/MONDO_0017762	disorder of copper metabolism		Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.
http://purl.obolibrary.org/obo/MONDO_0007369	hereditary coproporphyria	http://purl.obolibrary.org/obo/MONDO_0800180	CPOX-related hereditary coproporphyria		A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.
http://purl.obolibrary.org/obo/MONDO_0007374	Schnyder corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.
http://purl.obolibrary.org/obo/MONDO_0007376	fleck corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.
http://purl.obolibrary.org/obo/MONDO_0007377	granular corneal dystrophy type I	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
http://purl.obolibrary.org/obo/MONDO_0007378	posterior polymorphous corneal dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0020364	posterior polymorphous corneal dystrophy		A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
http://purl.obolibrary.org/obo/MONDO_0007379	Meesmann corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.
http://purl.obolibrary.org/obo/MONDO_0007380	lattice corneal dystrophy type I	http://purl.obolibrary.org/obo/MONDO_0004686	lattice corneal dystrophy		Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
http://purl.obolibrary.org/obo/MONDO_0007381	epithelial recurrent erosion dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
http://purl.obolibrary.org/obo/MONDO_0007382	Ramos-Arroyo syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0007384	congenital trigeminal anesthesia	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).
http://purl.obolibrary.org/obo/MONDO_0007388	congenitally short costocoracoid ligament	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.
http://purl.obolibrary.org/obo/MONDO_0007391	coxa vara	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.
http://purl.obolibrary.org/obo/MONDO_0007392	coxoauricular syndrome	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
http://purl.obolibrary.org/obo/MONDO_0007395	craniofacial-deafness-hand syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.
http://purl.obolibrary.org/obo/MONDO_0007396	dysostosis, Stanescu type	http://purl.obolibrary.org/obo/MONDO_0002933	osteosclerosis		Stanescu type dysostosis is a rare form of osteosclerosis.
http://purl.obolibrary.org/obo/MONDO_0007400	Jackson-Weiss syndrome	http://purl.obolibrary.org/obo/MONDO_0019796	acrocephalosyndactyly		Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
http://purl.obolibrary.org/obo/MONDO_0007404	Cri-du-chat syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0007405	Crouzon syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0007407	Cryoglobulinemic vasculitis	http://purl.obolibrary.org/obo/MONDO_0015491	immune complex mediated vasculitis		Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.
http://purl.obolibrary.org/obo/MONDO_0007409	cryptomicrotia-brachydactyly-excess fingertip arch syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0007410	isolated cryptophthalmia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007412	Beare-Stevenson cutis gyrata syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.
http://purl.obolibrary.org/obo/MONDO_0007413	Cyprus facial-neuromusculoskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.
http://purl.obolibrary.org/obo/MONDO_0007415	mitochondrial complex III deficiency nuclear type 1	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.
http://purl.obolibrary.org/obo/MONDO_0007416	Balkan nephropathy	http://purl.obolibrary.org/obo/MONDO_0005334	hereditary nephritis		A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.
http://purl.obolibrary.org/obo/MONDO_0007417	Darier disease	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.
http://purl.obolibrary.org/obo/MONDO_0007420	autosomal dominant deafness - onychodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
http://purl.obolibrary.org/obo/MONDO_0007421	deafness-ear malformation-facial palsy syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007424	autosomal dominant nonsyndromic hearing loss 1	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.
http://purl.obolibrary.org/obo/MONDO_0007428	deafness-craniofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007435	dentatorubral-pallidoluysian atrophy	http://purl.obolibrary.org/obo/MONDO_0015548	Huntington disease-like syndrome		Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
http://purl.obolibrary.org/obo/MONDO_0007436	dentin dysplasia type I	http://purl.obolibrary.org/obo/MONDO_0015613	dentin dysplasia		Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.
http://purl.obolibrary.org/obo/MONDO_0007438	dentin dysplasia-sclerotic bones syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.
http://purl.obolibrary.org/obo/MONDO_0007442	dentinogenesis imperfecta type 3	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).
http://purl.obolibrary.org/obo/MONDO_0007446	dermatosis papulosa nigra	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.
http://purl.obolibrary.org/obo/MONDO_0007448	familial dermatographia	http://purl.obolibrary.org/obo/MONDO_0006599	physical urticaria		Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may involve use of antihistamines if symptoms do not go away on their own.
http://purl.obolibrary.org/obo/MONDO_0007449	dermo-odonto dysplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.
http://purl.obolibrary.org/obo/MONDO_0007450	neurohypophyseal diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
http://purl.obolibrary.org/obo/MONDO_0007452	maturity-onset diabetes of the young type 1	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.
http://purl.obolibrary.org/obo/MONDO_0007453	maturity-onset diabetes of the young type 2	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.
http://purl.obolibrary.org/obo/MONDO_0007454	type 1 diabetes mellitus 2	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.
http://purl.obolibrary.org/obo/MONDO_0007461	short stature-valvular heart disease-characteristic facies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0007470	calvarial doughnut lesions-bone fragility syndrome	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.
http://purl.obolibrary.org/obo/MONDO_0007471	Doyne honeycomb retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0006949	retinal drusen		Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.
http://purl.obolibrary.org/obo/MONDO_0007472	basal laminar drusen	http://purl.obolibrary.org/obo/MONDO_0006949	retinal drusen		A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.
http://purl.obolibrary.org/obo/MONDO_0007473	Duane retraction syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.
http://purl.obolibrary.org/obo/MONDO_0007476	familial Dupuytren contracture	http://purl.obolibrary.org/obo/MONDO_0016037	superficial Fibromatosis		Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).
http://purl.obolibrary.org/obo/MONDO_0007477	3-M syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
http://purl.obolibrary.org/obo/MONDO_0007481	Leri-Weill dyschondrosteosis	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.
http://purl.obolibrary.org/obo/MONDO_0007482	dyschondrosteosis-nephritis syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.
http://purl.obolibrary.org/obo/MONDO_0007483	dyschromatosis symmetrica hereditaria	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
http://purl.obolibrary.org/obo/MONDO_0007485	dyskeratosis congenita, autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0100137	telomere syndrome		A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.
http://purl.obolibrary.org/obo/MONDO_0007486	hereditary benign intraepithelial dyskeratosis	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.
http://purl.obolibrary.org/obo/MONDO_0007488	Lewy body dementia	http://purl.obolibrary.org/obo/MONDO_0001627	dementia		A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.
http://purl.obolibrary.org/obo/MONDO_0007489	dysplasia epiphysealis hemimelica	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.
http://purl.obolibrary.org/obo/MONDO_0007490	carpotarsal osteochondromatosis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.
http://purl.obolibrary.org/obo/MONDO_0007492	early-onset generalized limb-onset dystonia	http://purl.obolibrary.org/obo/MONDO_0100016	early-onset generalized dystonia		A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.
http://purl.obolibrary.org/obo/MONDO_0007493	torsion dystonia 4	http://purl.obolibrary.org/obo/MONDO_0015990	focal, segmental or multifocal dystonia		DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
http://purl.obolibrary.org/obo/MONDO_0007495	dystonia 5	http://purl.obolibrary.org/obo/MONDO_0971063	autosomal dominant dopa-responsive dystonia		An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.
http://purl.obolibrary.org/obo/MONDO_0007496	dystonia 12	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
http://purl.obolibrary.org/obo/MONDO_0007501	preauricular fistulae, congenital	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A congenital disorder characterized by malformations of the external ear, which is caused by the first and second branchial arch dysplasia or the first branchial groove insufficiency in the embryonic stage.
http://purl.obolibrary.org/obo/MONDO_0007507	absence of fingerprints-congenital milia syndrome	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0007508	Rapp-Hodgkin syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.
http://purl.obolibrary.org/obo/MONDO_0007510	Clouston syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
http://purl.obolibrary.org/obo/MONDO_0007511	ectodermal dysplasia, trichoodontoonychial type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.
http://purl.obolibrary.org/obo/MONDO_0007519	Edinburgh malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0043009	hereditary lethal multiple congenital anomalies/dysmorphic syndrome		Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.
http://purl.obolibrary.org/obo/MONDO_0007520	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	http://purl.obolibrary.org/obo/MONDO_0010004	EEC syndrome		An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
http://purl.obolibrary.org/obo/MONDO_0007523	Ehlers-Danlos syndrome, hypermobility type	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.
http://purl.obolibrary.org/obo/MONDO_0007524	autosomal dominant Ehlers-Danlos syndrome, vascular type	http://purl.obolibrary.org/obo/MONDO_0017314	Ehlers-Danlos syndrome, vascular type		The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.
http://purl.obolibrary.org/obo/MONDO_0007526	Ehlers-Danlos syndrome, spondylodysplastic type	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
http://purl.obolibrary.org/obo/MONDO_0007527	Ehlers-Danlos syndrome, periodontitis type	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
http://purl.obolibrary.org/obo/MONDO_0007533	elliptocytosis 2	http://purl.obolibrary.org/obo/MONDO_0017319	hereditary elliptocytosis		Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
http://purl.obolibrary.org/obo/MONDO_0007534	Beckwith-Wiedemann syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.
http://purl.obolibrary.org/obo/MONDO_0007536	congenital lobar emphysema	http://purl.obolibrary.org/obo/MONDO_0004849	pulmonary emphysema		Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.
http://purl.obolibrary.org/obo/MONDO_0007538	amelogenesis imperfecta, type 3A	http://purl.obolibrary.org/obo/MONDO_0968955	hypocalcified amelogenesis imperfecta		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.
http://purl.obolibrary.org/obo/MONDO_0007540	multiple endocrine neoplasia type 1	http://purl.obolibrary.org/obo/MONDO_0021227	adrenal gland neoplasm		An autosomal dominant tumor predisposition syndrome caused by pathogenic variants in the MEN1 gene, characterized by an increased risk of tumors of the parathyroid glands, pituitary gland, and foregut neuroendocrine tumors (most commonly pancreatic islet cells).
http://purl.obolibrary.org/obo/MONDO_0007542	Camurati-Engelmann disease	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
http://purl.obolibrary.org/obo/MONDO_0007544	eosinophilia, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.
http://purl.obolibrary.org/obo/MONDO_0007548	transient bullous dermolysis of the newborn	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.
http://purl.obolibrary.org/obo/MONDO_0007550	epidermolysis bullosa simplex 1A, generalized severe	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
http://purl.obolibrary.org/obo/MONDO_0007551	epidermolysis bullosa simplex 1C, localized	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
http://purl.obolibrary.org/obo/MONDO_0007552	pretibial dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.
http://purl.obolibrary.org/obo/MONDO_0007555	epidermolysis bullosa simplex 5A, Ogna type	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.
http://purl.obolibrary.org/obo/MONDO_0007556	epidermolysis bullosa simplex 2F, with mottled pigmentation	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.
http://purl.obolibrary.org/obo/MONDO_0007558	self-limited childhood occipital epilepsy	http://purl.obolibrary.org/obo/MONDO_0020072	childhood-onset epilepsy syndrome		A rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.
http://purl.obolibrary.org/obo/MONDO_0007564	pilomatrixoma	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.
http://purl.obolibrary.org/obo/MONDO_0007566	multiple self-healing squamous epithelioma	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.
http://purl.obolibrary.org/obo/MONDO_0007568	aortic aneurysm, familial thoracic 4	http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection		Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.
http://purl.obolibrary.org/obo/MONDO_0007570	erythema palmare hereditarium	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.
http://purl.obolibrary.org/obo/MONDO_0007572	primary familial polycythemia due to EPO receptor mutation	http://purl.obolibrary.org/obo/MONDO_0001115	familial polycythemia		Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
http://purl.obolibrary.org/obo/MONDO_0007573	erythroleukemia, familial, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene.
http://purl.obolibrary.org/obo/MONDO_0007574	spinocerebellar ataxia type 34	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.
http://purl.obolibrary.org/obo/MONDO_0007576	esophageal cancer	http://purl.obolibrary.org/obo/MONDO_0021355	neoplasm of esophagus		A primary or metastatic malignant neoplasm involving the esophagus.
http://purl.obolibrary.org/obo/MONDO_0007584	exostoses-anetodermia-brachydactyly type E syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.
http://purl.obolibrary.org/obo/MONDO_0007585	exostoses, multiple, type 1	http://purl.obolibrary.org/obo/MONDO_0005508	hereditary multiple osteochondromas		Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.
http://purl.obolibrary.org/obo/MONDO_0007586	exostoses, multiple, type 2	http://purl.obolibrary.org/obo/MONDO_0005508	hereditary multiple osteochondromas		This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.
http://purl.obolibrary.org/obo/MONDO_0007588	extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
http://purl.obolibrary.org/obo/MONDO_0007600	primary Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0100238	inherited Fanconi renotubular syndrome		A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.
http://purl.obolibrary.org/obo/MONDO_0007603	Felty syndrome	http://purl.obolibrary.org/obo/MONDO_0008383	rheumatoid arthritis		Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.
http://purl.obolibrary.org/obo/MONDO_0007604	femoral-facial syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.
http://purl.obolibrary.org/obo/MONDO_0007606	fibrodysplasia ossificans progressiva	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
http://purl.obolibrary.org/obo/MONDO_0007609	fibromatosis, gingival, 1	http://purl.obolibrary.org/obo/MONDO_0016070	hereditary gingival fibromatosis		Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.
http://purl.obolibrary.org/obo/MONDO_0007610	gingival fibromatosis-hypertrichosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.
http://purl.obolibrary.org/obo/MONDO_0007612	gingival fibromatosis-progressive deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0007615	laurin-Sandrow syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.
http://purl.obolibrary.org/obo/MONDO_0007619	isolated congenital adermatoglyphia	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.
http://purl.obolibrary.org/obo/MONDO_0007620	fish eye disease	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
http://purl.obolibrary.org/obo/MONDO_0007621	Floating-Harbor syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
http://purl.obolibrary.org/obo/MONDO_0007624	Flynn-Aird syndrome	http://purl.obolibrary.org/obo/MONDO_0019303	premature aging syndrome		Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.
http://purl.obolibrary.org/obo/MONDO_0007626	familial congenital palsy of trochlear nerve	http://purl.obolibrary.org/obo/MONDO_0700463	congenital trochlear nerve palsy		An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0007630	North Carolina macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0031166	macular dystrophy, retinal		North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.
http://purl.obolibrary.org/obo/MONDO_0007631	chromosome 16p12.1 deletion syndrome, 520kb	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.
http://purl.obolibrary.org/obo/MONDO_0007635	Frasier syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.
http://purl.obolibrary.org/obo/MONDO_0007637	corneal dystrophy, Fuchs endothelial, 1	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy		Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
http://purl.obolibrary.org/obo/MONDO_0007639	fundus albipunctatus	http://purl.obolibrary.org/obo/MONDO_1040055	PRPH2-related retinopathy		Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
http://purl.obolibrary.org/obo/MONDO_0007640	Sorsby fundus dystrophy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
http://purl.obolibrary.org/obo/MONDO_0007644	IgAD1	http://purl.obolibrary.org/obo/MONDO_0001341	selective IgA deficiency disease		Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.
http://purl.obolibrary.org/obo/MONDO_0007646	Gamstorp-Wohlfart syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
http://purl.obolibrary.org/obo/MONDO_0007648	hereditary diffuse gastric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005017	diffuse gastric adenocarcinoma		An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.
http://purl.obolibrary.org/obo/MONDO_0007650	MALT lymphoma	http://purl.obolibrary.org/obo/MONDO_0004949	neoplasm of mature B-cells		An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0007652	gastric mucosal hypertrophy	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		A rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.
http://purl.obolibrary.org/obo/MONDO_0007656	Gerstmann-Straussler-Scheinker syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.
http://purl.obolibrary.org/obo/MONDO_0007660	familial ossifying fibroma	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0007661	Tourette syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.
http://purl.obolibrary.org/obo/MONDO_0007664	glaucoma 1, open angle, A	http://purl.obolibrary.org/obo/MONDO_0020367	juvenile open angle glaucoma		Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.
http://purl.obolibrary.org/obo/MONDO_0007666	glaucoma-sleep apnea syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).
http://purl.obolibrary.org/obo/MONDO_0007667	subependymoma	http://purl.obolibrary.org/obo/MONDO_0016697	low grade ependymoma		Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.
http://purl.obolibrary.org/obo/MONDO_0007669	renal cysts and diabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.
http://purl.obolibrary.org/obo/MONDO_0007672	glomuvenous malformation	http://purl.obolibrary.org/obo/MONDO_0024291	vascular malformation		Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.
http://purl.obolibrary.org/obo/MONDO_0007679	GMS syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0007680	multinodular goiter-cystic kidney-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.
http://purl.obolibrary.org/obo/MONDO_0007681	goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.
http://purl.obolibrary.org/obo/MONDO_0007683	Grant syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.
http://purl.obolibrary.org/obo/MONDO_0007686	gray platelet syndrome	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
http://purl.obolibrary.org/obo/MONDO_0007688	Myhre syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.
http://purl.obolibrary.org/obo/MONDO_0007690	aromatase excess syndrome	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
http://purl.obolibrary.org/obo/MONDO_0007691	Guillain-Barre syndrome, familial	http://purl.obolibrary.org/obo/MONDO_0016218	Guillain-Barre syndrome		A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.
http://purl.obolibrary.org/obo/MONDO_0007693	hypertrichosis cubiti-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.
http://purl.obolibrary.org/obo/MONDO_0007698	hand-foot-genital syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
http://purl.obolibrary.org/obo/MONDO_0007699	Hashimoto thyroiditis	http://purl.obolibrary.org/obo/MONDO_0005623	autoimmune thyroid disease		An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.
http://purl.obolibrary.org/obo/MONDO_0007700	hawkinsinuria	http://purl.obolibrary.org/obo/MONDO_0017307	disorder of tyrosine metabolism		Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
http://purl.obolibrary.org/obo/MONDO_0007702	heart-hand syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0007732	Holt-Oram syndrome		Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.
http://purl.obolibrary.org/obo/MONDO_0007707	hemangiomas of small intestine	http://purl.obolibrary.org/obo/MONDO_0021501	benign neoplasm of small intestine		A hemangioma that involves the small intestine.
http://purl.obolibrary.org/obo/MONDO_0007708	Kasabach-Merritt syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.
http://purl.obolibrary.org/obo/MONDO_0007710	facial hemiatrophy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.
http://purl.obolibrary.org/obo/MONDO_0007711	Bencze syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.
http://purl.obolibrary.org/obo/MONDO_0007716	alpha thalassemia-intellectual disability syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
http://purl.obolibrary.org/obo/MONDO_0007721	hiatus hernia	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		Herniation of the upper part of the stomach through the diaphragm.
http://purl.obolibrary.org/obo/MONDO_0007725	hereditary progressive mucinous histiocytosis	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.
http://purl.obolibrary.org/obo/MONDO_0007726	hip dysplasia, Beukes type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.
http://purl.obolibrary.org/obo/MONDO_0007727	TNF receptor 1-associated periodic fever syndrome	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.
http://purl.obolibrary.org/obo/MONDO_0007732	Holt-Oram syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
http://purl.obolibrary.org/obo/MONDO_0007733	holoprosencephaly 3	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.
http://purl.obolibrary.org/obo/MONDO_0007734	holoprosencephaly 4	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.
http://purl.obolibrary.org/obo/MONDO_0007735	congenital Horner syndrome	http://purl.obolibrary.org/obo/MONDO_0001294	Horner syndrome		Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.
http://purl.obolibrary.org/obo/MONDO_0007737	humeroradial synostosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.
http://purl.obolibrary.org/obo/MONDO_0007738	spondyloepiphyseal dysplasia with congenital joint dislocations	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
http://purl.obolibrary.org/obo/MONDO_0007739	Huntington disease	http://purl.obolibrary.org/obo/MONDO_0000167	Huntington disease and related disorders		Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
http://purl.obolibrary.org/obo/MONDO_0007740	Wagner disease	http://purl.obolibrary.org/obo/MONDO_0020248	vitreoretinal degeneration		Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.
http://purl.obolibrary.org/obo/MONDO_0007745	Gilbert syndrome	http://purl.obolibrary.org/obo/MONDO_0002408	hereditary hyperbilirubinemia		An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
http://purl.obolibrary.org/obo/MONDO_0007753	Frey syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)
http://purl.obolibrary.org/obo/MONDO_0007757	hyperkeratosis-hyperpigmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.
http://purl.obolibrary.org/obo/MONDO_0007762	hyperlipoproteinemia type V	http://purl.obolibrary.org/obo/MONDO_0001336	familial hyperlipidemia		A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.
http://purl.obolibrary.org/obo/MONDO_0007766	Morgagni-Stewart-Morel syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Morgagni-Stewart-Morel syndrome is characterized by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007768	hyperparathyroidism 2 with jaw tumors	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.
http://purl.obolibrary.org/obo/MONDO_0007769	hyperpigmentation of eyelid	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Over-production of pigment in the eyelid.
http://purl.obolibrary.org/obo/MONDO_0007774	hyperreflexia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
http://purl.obolibrary.org/obo/MONDO_0007776	hypersensitivity pneumonitis, familial	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0007784	selective pituitary resistance to thyroid hormone	http://purl.obolibrary.org/obo/MONDO_0700478	resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta		Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.
http://purl.obolibrary.org/obo/MONDO_0007787	Ambras type hypertrichosis universalis congenita	http://purl.obolibrary.org/obo/MONDO_0016381	hypertrichosis lanuginosa congenita		Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
http://purl.obolibrary.org/obo/MONDO_0007791	familial hypocalciuric hypercalcemia 1	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.
http://purl.obolibrary.org/obo/MONDO_0007792	familial hypocalciuric hypercalcemia 2	http://purl.obolibrary.org/obo/MONDO_0018458	familial hypocalciuric hypercalcemia		A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/MONDO_0007793	hypochondroplasia	http://purl.obolibrary.org/obo/MONDO_0019685	FGFR3-related chondrodysplasia		Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
http://purl.obolibrary.org/obo/MONDO_0007794	hypogonadotropic hypogonadism 7 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.
http://purl.obolibrary.org/obo/MONDO_0007795	mullerian duct anomalies-limb anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007797	hypoparathyroidism-deafness-renal disease syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.
http://purl.obolibrary.org/obo/MONDO_0007800	chromosome 18p deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016880	partial deletion of chromosome 18		Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.
http://purl.obolibrary.org/obo/MONDO_0007803	multiple system atrophy	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
http://purl.obolibrary.org/obo/MONDO_0007804	Pallister-Hall syndrome	http://purl.obolibrary.org/obo/MONDO_0018762	non-acquired combined pituitary hormone deficiency		Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.
http://purl.obolibrary.org/obo/MONDO_0007805	hypotrichosis 2	http://purl.obolibrary.org/obo/MONDO_0019575	hypotrichosis simplex of the scalp		Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.
http://purl.obolibrary.org/obo/MONDO_0007808	ichthyosis hystrix of Curth-Macklin	http://purl.obolibrary.org/obo/MONDO_0859383	ichthyosis hystrix		Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).
http://purl.obolibrary.org/obo/MONDO_0007810	autosomal dominant ichthyosis vulgaris	http://purl.obolibrary.org/obo/MONDO_0024304	ichthyosis vulgaris		Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.
http://purl.obolibrary.org/obo/MONDO_0007811	ichthyosis-cheek-eyebrow syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007813	superficial epidermolytic ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017266	keratinopathic ichthyosis		Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.
http://purl.obolibrary.org/obo/MONDO_0007818	hyper-IgE recurrent infection syndrome 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.
http://purl.obolibrary.org/obo/MONDO_0007819	solitary median maxillary central incisor syndrome	http://purl.obolibrary.org/obo/MONDO_0007733	holoprosencephaly 3		A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.
http://purl.obolibrary.org/obo/MONDO_0007820	fused mandibular incisors	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.
http://purl.obolibrary.org/obo/MONDO_0007827	inclusion body myositis	http://purl.obolibrary.org/obo/MONDO_0021167	myositis disease		A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.
http://purl.obolibrary.org/obo/MONDO_0007834	islet cell adenomatosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.
http://purl.obolibrary.org/obo/MONDO_0007835	intussusception	http://purl.obolibrary.org/obo/MONDO_0004565	intestinal obstruction		Telescoping or invagination of a part of the intestine into an adjacent segment.
http://purl.obolibrary.org/obo/MONDO_0007836	IVIC syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
http://purl.obolibrary.org/obo/MONDO_0007837	Johnson neuroectodermal syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.
http://purl.obolibrary.org/obo/MONDO_0007839	Aase-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
http://purl.obolibrary.org/obo/MONDO_0007841	coxopodopatellar syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
http://purl.obolibrary.org/obo/MONDO_0007842	joint laxity, familial	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.
http://purl.obolibrary.org/obo/MONDO_0007844	hypogonadotropic hypogonadism 2 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.
http://purl.obolibrary.org/obo/MONDO_0007846	KBG syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0007848	autosomal dominant keratitis	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0007850	autosomal dominant keratitis-ichthyosis-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Autosomal dominant form of KID syndrome.
http://purl.obolibrary.org/obo/MONDO_0007851	keratoconus 1	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.
http://purl.obolibrary.org/obo/MONDO_0007852	palmoplantar keratoderma-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.
http://purl.obolibrary.org/obo/MONDO_0007854	keratolytic winter erythema	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.
http://purl.obolibrary.org/obo/MONDO_0007856	palmoplantar keratoderma-esophageal carcinoma syndrome	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.
http://purl.obolibrary.org/obo/MONDO_0007857	keratosis palmaris et plantaris-clinodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007860	focal palmoplantar and gingival keratoderma	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.
http://purl.obolibrary.org/obo/MONDO_0007862	Waardenburg syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0018094	Waardenburg syndrome		Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
http://purl.obolibrary.org/obo/MONDO_0007863	Kleine-Levin syndrome	http://purl.obolibrary.org/obo/MONDO_0004617	recurrent hypersomnia		Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances.
http://purl.obolibrary.org/obo/MONDO_0007864	angioosteohypertrophic syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
http://purl.obolibrary.org/obo/MONDO_0007868	hyperekplexia 1	http://purl.obolibrary.org/obo/MONDO_0021022	hereditary hyperekplexia		A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
http://purl.obolibrary.org/obo/MONDO_0007869	Kyrle disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.
http://purl.obolibrary.org/obo/MONDO_0007872	LADD syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.
http://purl.obolibrary.org/obo/MONDO_0007874	trichorhinophalangeal syndrome type II	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0007875	Larsen syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.
http://purl.obolibrary.org/obo/MONDO_0007878	congenital laryngomalacia	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		Increased collapsibility of the larynx.
http://purl.obolibrary.org/obo/MONDO_0007879	larynx atresia	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.
http://purl.obolibrary.org/obo/MONDO_0007880	congenital laryngeal web	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.
http://purl.obolibrary.org/obo/MONDO_0007881	tooth agenesis, selective, 4	http://purl.obolibrary.org/obo/MONDO_0100358	ectodermal dysplasia WNT10A related		Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.
http://purl.obolibrary.org/obo/MONDO_0007885	Legg-Calve-Perthes disease	http://purl.obolibrary.org/obo/MONDO_1030002	dysplasia of the proximal femoral epiphyses		A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.
http://purl.obolibrary.org/obo/MONDO_0007886	uterine corpus leiomyoma	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
http://purl.obolibrary.org/obo/MONDO_0007888	hereditary leiomyomatosis and renal cell cancer	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
http://purl.obolibrary.org/obo/MONDO_0007891	familial generalized lentiginosis	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.
http://purl.obolibrary.org/obo/MONDO_0007892	Lenz-Majewski hyperostotic dwarfism	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
http://purl.obolibrary.org/obo/MONDO_0007894	Leri pleonosteosis	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
http://purl.obolibrary.org/obo/MONDO_0007896	acute monocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).
http://purl.obolibrary.org/obo/MONDO_0007899	lichen sclerosus et atrophicus	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.
http://purl.obolibrary.org/obo/MONDO_0007900	nonsyndromic congenital nail disorder 3	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.
http://purl.obolibrary.org/obo/MONDO_0007902	lichen planus, familial	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An instance of lichen planus that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0007904	median nodule of the upper lip	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.
http://purl.obolibrary.org/obo/MONDO_0007908	multiple symmetric lipomatosis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).
http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.
http://purl.obolibrary.org/obo/MONDO_0007916	primary intestinal lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0018178	intestinal lymphangiectasia		Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.
http://purl.obolibrary.org/obo/MONDO_0007917	lymphedema-cerebral arteriovenous anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.
http://purl.obolibrary.org/obo/MONDO_0007918	microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0007920	lymphatic malformation 5	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.
http://purl.obolibrary.org/obo/MONDO_0007921	yellow nail syndrome	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.
http://purl.obolibrary.org/obo/MONDO_0007922	lymphedema-distichiasis syndrome	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
http://purl.obolibrary.org/obo/MONDO_0007924	Bannayan-Riley-Ruvalcaba syndrome	http://purl.obolibrary.org/obo/MONDO_0017623	PTEN hamartoma tumor syndrome		Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
http://purl.obolibrary.org/obo/MONDO_0007925	myelodysplastic syndrome associated with isolated del(5q)	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0007932	age related macular degeneration 2	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.
http://purl.obolibrary.org/obo/MONDO_0007934	benign concentric annular macular dystrophy	http://purl.obolibrary.org/obo/MONDO_1040036	IMPG1-related dominant retinopathy		Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.
http://purl.obolibrary.org/obo/MONDO_0007935	cystoid macular edema	http://purl.obolibrary.org/obo/MONDO_0003005	macular retinal edema		An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.
http://purl.obolibrary.org/obo/MONDO_0007937	renal hypomagnesemia 2	http://purl.obolibrary.org/obo/MONDO_0017625	familial primary hypomagnesemia with hypocalcuria		Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
http://purl.obolibrary.org/obo/MONDO_0007938	46,XY sex reversal 4	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		Sex reversal in an individual associated with a 9p24.3 deletion.
http://purl.obolibrary.org/obo/MONDO_0007943	Nager acrofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
http://purl.obolibrary.org/obo/MONDO_0007946	jaw-winking syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis.
http://purl.obolibrary.org/obo/MONDO_0007947	Marfan syndrome	http://purl.obolibrary.org/obo/MONDO_0017310	Marfan and Marfan-related disorder		A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.
http://purl.obolibrary.org/obo/MONDO_0007949	Marshall syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
http://purl.obolibrary.org/obo/MONDO_0007950	mastocytosis	http://purl.obolibrary.org/obo/MONDO_0004805	leukocyte disorder		A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.
http://purl.obolibrary.org/obo/MONDO_0007953	Binder syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.
http://purl.obolibrary.org/obo/MONDO_0007955	Meckel diverticulum	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.
http://purl.obolibrary.org/obo/MONDO_0007956	Pai syndrome	http://purl.obolibrary.org/obo/MONDO_0016643	frontonasal dysplasia		Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.
http://purl.obolibrary.org/obo/MONDO_0007958	familial medullary thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0015277	medullary thyroid gland carcinoma		An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0005564	embryonal neoplasm		A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.
http://purl.obolibrary.org/obo/MONDO_0007962	megalodactyly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.
http://purl.obolibrary.org/obo/MONDO_0007964	melanoma, cutaneous malignant, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma		Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)
http://purl.obolibrary.org/obo/MONDO_0007967	melanoma and neural system tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).
http://purl.obolibrary.org/obo/MONDO_0007969	Melkersson-Rosenthal syndrome	http://purl.obolibrary.org/obo/MONDO_0005492	urticaria		The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.
http://purl.obolibrary.org/obo/MONDO_0007970	melorheostosis	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.
http://purl.obolibrary.org/obo/MONDO_0007971	delayed membranous cranial ossification	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.
http://purl.obolibrary.org/obo/MONDO_0007972	Meniere disease	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.
http://purl.obolibrary.org/obo/MONDO_0007974	intellectual disability, autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.
http://purl.obolibrary.org/obo/MONDO_0007977	mesomelic dysplasia, Kantaputra type	http://purl.obolibrary.org/obo/MONDO_0023599	mesomelic dysplasia		Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
http://purl.obolibrary.org/obo/MONDO_0007979	metachondromatosis	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
http://purl.obolibrary.org/obo/MONDO_0007983	Schmid metaphyseal chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		A rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
http://purl.obolibrary.org/obo/MONDO_0007986	metatropic dysplasia	http://purl.obolibrary.org/obo/MONDO_0018240	TRPV4-related bone disorder		Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
http://purl.obolibrary.org/obo/MONDO_0007987	Kniest dysplasia	http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy		A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones.
http://purl.obolibrary.org/obo/MONDO_0007988	autosomal dominant primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Autosomal dominant form of microcephaly (disease).
http://purl.obolibrary.org/obo/MONDO_0007989	congenital microcoria	http://purl.obolibrary.org/obo/MONDO_0011119	iridogoniodysgenesis		Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.
http://purl.obolibrary.org/obo/MONDO_0007991	microcephaly-deafness-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007992	microcornea-glaucoma-absent frontal sinuses syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007998	microspherophakia-metaphyseal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
http://purl.obolibrary.org/obo/MONDO_0007999	holoprosencephaly 2	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.
http://purl.obolibrary.org/obo/MONDO_0008003	autosomal dominant progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions		Autosomal dominant form of progressive external ophthalmoplegia.
http://purl.obolibrary.org/obo/MONDO_0008006	Mobius syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.
http://purl.obolibrary.org/obo/MONDO_0008007	tooth ankylosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.
http://purl.obolibrary.org/obo/MONDO_0008008	MOMO syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
http://purl.obolibrary.org/obo/MONDO_0008009	monilethrix	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
http://purl.obolibrary.org/obo/MONDO_0008013	chromosome 9p deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016874	partial deletion of chromosome 9		Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
http://purl.obolibrary.org/obo/MONDO_0008015	motion sickness	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.
http://purl.obolibrary.org/obo/MONDO_0008017	hereditary mucoepithelial dysplasia	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.
http://purl.obolibrary.org/obo/MONDO_0008018	Muir-Torre syndrome	http://purl.obolibrary.org/obo/MONDO_0018630	hereditary nonpolyposis colon cancer		Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.
http://purl.obolibrary.org/obo/MONDO_0008019	mullerian aplasia and hyperandrogenism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.
http://purl.obolibrary.org/obo/MONDO_0008029	Bethlem myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.
http://purl.obolibrary.org/obo/MONDO_0008031	facioscapulohumeral muscular dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0001347	facioscapulohumeral muscular dystrophy		Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.
http://purl.obolibrary.org/obo/MONDO_0008038	ataxia-pancytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0100310	hereditary cerebellar ataxia		A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
http://purl.obolibrary.org/obo/MONDO_0008039	tropical spastic paraparesis	http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system		Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.
http://purl.obolibrary.org/obo/MONDO_0008040	transient myeloproliferative syndrome	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.
http://purl.obolibrary.org/obo/MONDO_0008043	myoclonus-cerebellar ataxia-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0008044	myoclonic dystonia 11	http://purl.obolibrary.org/obo/MONDO_0000903	myoclonus-dystonia syndrome		Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.
http://purl.obolibrary.org/obo/MONDO_0008045	spinal muscular atrophy-progressive myoclonic epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100524	ASAH1-related sphingolipidosis		Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
http://purl.obolibrary.org/obo/MONDO_0008046	autosomal dominant myoglobinuria	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.
http://purl.obolibrary.org/obo/MONDO_0008047	episodic ataxia type 1	http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia		A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
http://purl.obolibrary.org/obo/MONDO_0008048	autosomal dominant centronuclear myopathy	http://purl.obolibrary.org/obo/MONDO_0018947	centronuclear myopathy		An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
http://purl.obolibrary.org/obo/MONDO_0008051	tubular aggregate myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.
http://purl.obolibrary.org/obo/MONDO_0008054	juvenile dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.
http://purl.obolibrary.org/obo/MONDO_0008056	myotonic dystrophy type 1	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.
http://purl.obolibrary.org/obo/MONDO_0008058	cylindrical spirals myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.
http://purl.obolibrary.org/obo/MONDO_0008059	Naegeli-Franceschetti-Jadassohn syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.
http://purl.obolibrary.org/obo/MONDO_0008060	nonsyndromic congenital nail disorder 1	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails.
http://purl.obolibrary.org/obo/MONDO_0008061	nail-patella syndrome	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
http://purl.obolibrary.org/obo/MONDO_0008070	congenital myopathy 2a, typical, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100084	alpha-actinopathy		An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.
http://purl.obolibrary.org/obo/MONDO_0008076	amyotrophic neuralgia	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.
http://purl.obolibrary.org/obo/MONDO_0008082	multiple endocrine neoplasia type 2B	http://purl.obolibrary.org/obo/MONDO_0019003	multiple endocrine neoplasia type 2		An autosomal dominant disorder caused by specific pathogenic variants in the RET gene, characterized by an increased risk of very early onset medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism, and mucosal neuromas.
http://purl.obolibrary.org/obo/MONDO_0008083	ceroid lipofuscinosis, neuronal, 4 (Kufs type)	http://purl.obolibrary.org/obo/MONDO_0019260	adult neuronal ceroid lipofuscinosis		A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
http://purl.obolibrary.org/obo/MONDO_0008087	hereditary neuropathy with liability to pressure palsies	http://purl.obolibrary.org/obo/MONDO_0022754	chromosome 17p deletion		Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.
http://purl.obolibrary.org/obo/MONDO_0008090	cyclic hematopoiesis	http://purl.obolibrary.org/obo/MONDO_1060165	ELANE-related neutropenia		A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.
http://purl.obolibrary.org/obo/MONDO_0008092	hereditary neutrophilia	http://purl.obolibrary.org/obo/MONDO_0004805	leukocyte disorder		A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.
http://purl.obolibrary.org/obo/MONDO_0008093	nevus, epidermal	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.
http://purl.obolibrary.org/obo/MONDO_0008099	congenital stationary night blindness autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0016293	congenital stationary night blindness		Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.
http://purl.obolibrary.org/obo/MONDO_0008102	sick sinus syndrome 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012061	familial sick sinus syndrome		Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.
http://purl.obolibrary.org/obo/MONDO_0008104	Noonan syndrome 1	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Noonan syndrome caused by mutations in the PTPN11 gene.
http://purl.obolibrary.org/obo/MONDO_0008109	ocular cicatricial pemphigoid	http://purl.obolibrary.org/obo/MONDO_0018746	mucous membrane pemphigoid		Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.
http://purl.obolibrary.org/obo/MONDO_0008111	oculodentodigital dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.
http://purl.obolibrary.org/obo/MONDO_0008113	Schilbach-Rott syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.
http://purl.obolibrary.org/obo/MONDO_0008114	obsessive-compulsive disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.
http://purl.obolibrary.org/obo/MONDO_0008116	oculopharyngeal muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.
http://purl.obolibrary.org/obo/MONDO_0008118	odontomatosis-aortae esophagus stenosis syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.
http://purl.obolibrary.org/obo/MONDO_0008119	spinocerebellar ataxia type 1	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
http://purl.obolibrary.org/obo/MONDO_0008123	autosomal dominant omodysplasia	http://purl.obolibrary.org/obo/MONDO_0017136	omodysplasia		Autosomal dominant form of omodysplasia.
http://purl.obolibrary.org/obo/MONDO_0008127	ophthalmomandibulomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
http://purl.obolibrary.org/obo/MONDO_0008137	orofaciodigital syndrome X	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.
http://purl.obolibrary.org/obo/MONDO_0008138	syndromic orbital border hypoplasia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.
http://purl.obolibrary.org/obo/MONDO_0008139	OSLAM syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia.
http://purl.obolibrary.org/obo/MONDO_0008142	Thiemann disease, familial form	http://purl.obolibrary.org/obo/MONDO_0018383	osteonecrosis of genetic origin		Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.
http://purl.obolibrary.org/obo/MONDO_0008145	Ollier disease	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.
http://purl.obolibrary.org/obo/MONDO_0008146	osteogenesis imperfecta type 1	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
http://purl.obolibrary.org/obo/MONDO_0008147	osteogenesis imperfecta type 2	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
http://purl.obolibrary.org/obo/MONDO_0008148	osteogenesis imperfecta type 4	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).
http://purl.obolibrary.org/obo/MONDO_0008149	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	http://purl.obolibrary.org/obo/MONDO_0008146	osteogenesis imperfecta type 1		An osteogenesis imperfecta found in a single South African family.
http://purl.obolibrary.org/obo/MONDO_0008150	osteoglophonic dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
http://purl.obolibrary.org/obo/MONDO_0008151	gnathodiaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.
http://purl.obolibrary.org/obo/MONDO_0008152	multicentric carpo-tarsal osteolysis with or without nephropathy	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
http://purl.obolibrary.org/obo/MONDO_0008153	progressive osseous heteroplasia	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.
http://purl.obolibrary.org/obo/MONDO_0008155	osteomesopyknosis	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.
http://purl.obolibrary.org/obo/MONDO_0008156	autosomal dominant osteopetrosis 2	http://purl.obolibrary.org/obo/MONDO_0020645	autosomal dominant osteopetrosis		A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
http://purl.obolibrary.org/obo/MONDO_0008158	dacryocystitis-osteopoikilosis syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).
http://purl.obolibrary.org/obo/MONDO_0008159	postmenopausal osteoporosis	http://purl.obolibrary.org/obo/MONDO_0005298	osteoporosis		Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.
http://purl.obolibrary.org/obo/MONDO_0008163	otofaciocervical syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
http://purl.obolibrary.org/obo/MONDO_0008167	dermoid cyst of ovary	http://purl.obolibrary.org/obo/MONDO_0003281	ovarian cystic teratoma		A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.
http://purl.obolibrary.org/obo/MONDO_0008168	ovarian fibroma	http://purl.obolibrary.org/obo/MONDO_0005167	fibroma		A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.
http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer	http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm		A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.
http://purl.obolibrary.org/obo/MONDO_0008171	nephrolithiasis	http://purl.obolibrary.org/obo/MONDO_0024647	urolithiasis		The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.
http://purl.obolibrary.org/obo/MONDO_0008175	pacman dysplasia	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.
http://purl.obolibrary.org/obo/MONDO_0008178	inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	http://purl.obolibrary.org/obo/MONDO_0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.
http://purl.obolibrary.org/obo/MONDO_0008179	paroxysmal extreme pain disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.
http://purl.obolibrary.org/obo/MONDO_0008180	congenital velopharyngeal incompetence	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.
http://purl.obolibrary.org/obo/MONDO_0008182	nasopalpebral lipoma-coloboma syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
http://purl.obolibrary.org/obo/MONDO_0008183	annular pancreas	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.
http://purl.obolibrary.org/obo/MONDO_0008189	papillomatosis, florid, of nipple	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.
http://purl.obolibrary.org/obo/MONDO_0008196	parastremmatic dwarfism	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
http://purl.obolibrary.org/obo/MONDO_0008198	parietal foramina with cleidocranial dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
http://purl.obolibrary.org/obo/MONDO_0008201	Perry syndrome	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.
http://purl.obolibrary.org/obo/MONDO_0008205	patella aplasia/hypoplasia	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
http://purl.obolibrary.org/obo/MONDO_0008206	benign paroxysmal tonic upgaze of childhood with ataxia	http://purl.obolibrary.org/obo/MONDO_0859193	neuroocular syndrome		A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
http://purl.obolibrary.org/obo/MONDO_0008207	chondromalacia patellae	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.
http://purl.obolibrary.org/obo/MONDO_0008209	Char syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
http://purl.obolibrary.org/obo/MONDO_0008210	patterned macular dystrophy 1	http://purl.obolibrary.org/obo/MONDO_1040055	PRPH2-related retinopathy		Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
http://purl.obolibrary.org/obo/MONDO_0008211	pseudoleprechaunism syndrome, Patterson type	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.
http://purl.obolibrary.org/obo/MONDO_0008213	pectus excavatum	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.
http://purl.obolibrary.org/obo/MONDO_0008214	Pelger-Huet anomaly	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
http://purl.obolibrary.org/obo/MONDO_0008215	adult-onset autosomal dominant demyelinating leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.
http://purl.obolibrary.org/obo/MONDO_0008217	pelvis-shoulder dysplasia	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.
http://purl.obolibrary.org/obo/MONDO_0008218	Hailey-Hailey disease	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).
http://purl.obolibrary.org/obo/MONDO_0008219	pemphigus vulgaris	http://purl.obolibrary.org/obo/MONDO_0006594	pemphigus		Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%).
http://purl.obolibrary.org/obo/MONDO_0008221	prolidase deficiency	http://purl.obolibrary.org/obo/MONDO_0019232	inborn disorder of peptide metabolism		An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0008222	Andersen-Tawil syndrome	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
http://purl.obolibrary.org/obo/MONDO_0008223	hypokalemic periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0003019	potassium deficiency disease		Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.
http://purl.obolibrary.org/obo/MONDO_0008224	hyperkalemic periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0000995	familial periodic paralysis		Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
http://purl.obolibrary.org/obo/MONDO_0008226	periodontitis, aggressive 1	http://purl.obolibrary.org/obo/MONDO_0980757	periodontitis, aggressive		A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.
http://purl.obolibrary.org/obo/MONDO_0008228	pernicious anemia	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.
http://purl.obolibrary.org/obo/MONDO_0008231	Peyronie disease	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.
http://purl.obolibrary.org/obo/MONDO_0008234	multiple endocrine neoplasia type 2A	http://purl.obolibrary.org/obo/MONDO_0019003	multiple endocrine neoplasia type 2		An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the RET gene, characterized by an increased risk of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.
http://purl.obolibrary.org/obo/MONDO_0008237	phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.
http://purl.obolibrary.org/obo/MONDO_0008243	Pick disease	http://purl.obolibrary.org/obo/MONDO_0044996	cerebral cortex disorder		A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.
http://purl.obolibrary.org/obo/MONDO_0008244	piebaldism	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
http://purl.obolibrary.org/obo/MONDO_0008245	piebald trait-neurologic defects syndrome	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
http://purl.obolibrary.org/obo/MONDO_0008247	Robin sequence-oligodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.
http://purl.obolibrary.org/obo/MONDO_0008249	pilonidal sinus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.
http://purl.obolibrary.org/obo/MONDO_0008251	familial pityriasis rubra pilaris	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.
http://purl.obolibrary.org/obo/MONDO_0008259	familial spontaneous pneumothorax	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.
http://purl.obolibrary.org/obo/MONDO_0008260	Kindler syndrome	http://purl.obolibrary.org/obo/MONDO_0019276	inherited epidermolysis bullosa		Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
http://purl.obolibrary.org/obo/MONDO_0008262	Poland syndrome	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.
http://purl.obolibrary.org/obo/MONDO_0008263	polycystic kidney disease 1	http://purl.obolibrary.org/obo/MONDO_0004691	autosomal dominant polycystic kidney disease		Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.
http://purl.obolibrary.org/obo/MONDO_0008264	autosomal dominant medullary cystic kidney disease with or without hyperuricemia	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).
http://purl.obolibrary.org/obo/MONDO_0008267	orofaciodigital syndrome V	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
http://purl.obolibrary.org/obo/MONDO_0008268	polydactyly-myopia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.
http://purl.obolibrary.org/obo/MONDO_0008269	polydactyly of a biphalangeal thumb	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.
http://purl.obolibrary.org/obo/MONDO_0008271	polydactyly of an index finger	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.
http://purl.obolibrary.org/obo/MONDO_0008274	polyostotic fibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0000845	fibrous dysplasia		Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.
http://purl.obolibrary.org/obo/MONDO_0008277	stomach polyp	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).
http://purl.obolibrary.org/obo/MONDO_0008278	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias.
http://purl.obolibrary.org/obo/MONDO_0008280	Peutz-Jeghers syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies.
http://purl.obolibrary.org/obo/MONDO_0008283	Cronkhite-Canada syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.
http://purl.obolibrary.org/obo/MONDO_0008286	crossed polysyndactyly	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.
http://purl.obolibrary.org/obo/MONDO_0008287	Greig cephalopolysyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.
http://purl.obolibrary.org/obo/MONDO_0008288	popliteal cyst	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.
http://purl.obolibrary.org/obo/MONDO_0008294	acute intermittent porphyria	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.
http://purl.obolibrary.org/obo/MONDO_0008295	sporadic porphyria cutanea tarda	http://purl.obolibrary.org/obo/MONDO_1030015	acquired porphyria		An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0008297	variegate porphyria	http://purl.obolibrary.org/obo/MONDO_0700383	PPOX-related hepatic porphyria		Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.
http://purl.obolibrary.org/obo/MONDO_0008298	postaxial tetramelic oligodactyly	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.
http://purl.obolibrary.org/obo/MONDO_0008300	Prader-Willi syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.
http://purl.obolibrary.org/obo/MONDO_0008301	Guttmacher syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
http://purl.obolibrary.org/obo/MONDO_0008306	ABri amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018591	ITM2B amyloidosis		A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
http://purl.obolibrary.org/obo/MONDO_0008310	Hutchinson-Gilford progeria syndrome	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
http://purl.obolibrary.org/obo/MONDO_0008311	progeria-short stature-pigmented nevi syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.
http://purl.obolibrary.org/obo/MONDO_0008312	autosomal dominant prognathism	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).
http://purl.obolibrary.org/obo/MONDO_0008315	prostate cancer	http://purl.obolibrary.org/obo/MONDO_0021259	prostate neoplasm		A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.
http://purl.obolibrary.org/obo/MONDO_0008318	Proteus syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
http://purl.obolibrary.org/obo/MONDO_0008322	pseudoachondroplasia	http://purl.obolibrary.org/obo/MONDO_0100593	COMP-related skeletal dysplasia		Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.
http://purl.obolibrary.org/obo/MONDO_0008323	Liddle syndrome	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.
http://purl.obolibrary.org/obo/MONDO_0008327	exfoliation syndrome	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.
http://purl.obolibrary.org/obo/MONDO_0008329	autosomal dominant pseudohypoaldosteronism type 1	http://purl.obolibrary.org/obo/MONDO_0019161	pseudohypoaldosteronism type 1		Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.
http://purl.obolibrary.org/obo/MONDO_0008332	platelet-type von Willebrand disease	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.
http://purl.obolibrary.org/obo/MONDO_0008333	pseudoxanthoma elasticum, forme fruste	http://purl.obolibrary.org/obo/MONDO_0100091	inherited pseudoxanthoma elasticum		An autosomal dominant form of PXE.
http://purl.obolibrary.org/obo/MONDO_0008335	short stature-craniofacial anomalies-genital hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.
http://purl.obolibrary.org/obo/MONDO_0008337	familial pterygium of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.
http://purl.obolibrary.org/obo/MONDO_0008340	congenital ptosis	http://purl.obolibrary.org/obo/MONDO_0000728	ptosis		Congenital ptosis is characterized by superior eyelid drop present at birth.
http://purl.obolibrary.org/obo/MONDO_0008341	ptosis-strabismus-ectopic pupils syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0008343	pulmonary atresia with ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.
http://purl.obolibrary.org/obo/MONDO_0008346	pulmonary hemosiderosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
http://purl.obolibrary.org/obo/MONDO_0008357	radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0008359	radio-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.
http://purl.obolibrary.org/obo/MONDO_0008364	Raynaud disease	http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease		An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.
http://purl.obolibrary.org/obo/MONDO_0008365	recombinant 8 syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0008371	Dowling-Degos disease	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
http://purl.obolibrary.org/obo/MONDO_0008375	retinal detachment	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.
http://purl.obolibrary.org/obo/MONDO_0008377	retinitis pigmentosa 1	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.
http://purl.obolibrary.org/obo/MONDO_0008378	retinitis pigmentosa 9	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.
http://purl.obolibrary.org/obo/MONDO_0008379	retinitis pigmentosa 10	http://purl.obolibrary.org/obo/MONDO_1040051	IMPDH1-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.
http://purl.obolibrary.org/obo/MONDO_0008380	retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0004338	retinal cell cancer		A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
http://purl.obolibrary.org/obo/MONDO_0008381	dominant pericentral pigmentary retinopathy	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.
http://purl.obolibrary.org/obo/MONDO_0008382	retinoschisis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Autosomal dominant form of retinoschisis.
http://purl.obolibrary.org/obo/MONDO_0008383	rheumatoid arthritis	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.
http://purl.obolibrary.org/obo/MONDO_0008384	rheumatoid nodulosis	http://purl.obolibrary.org/obo/MONDO_0024280	polyarticular arthritis		A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.
http://purl.obolibrary.org/obo/MONDO_0008386	Axenfeld-Rieger syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0019187	Axenfeld-Rieger syndrome		A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.
http://purl.obolibrary.org/obo/MONDO_0008387	ring dermoid of cornea	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.
http://purl.obolibrary.org/obo/MONDO_0008388	ringed hair disease	http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly		Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.
http://purl.obolibrary.org/obo/MONDO_0008389	autosomal dominant Robinow syndrome	http://purl.obolibrary.org/obo/MONDO_0019978	Robinow syndrome		Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
http://purl.obolibrary.org/obo/MONDO_0008390	Rombo syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.
http://purl.obolibrary.org/obo/MONDO_0008395	Ruvalcaba syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0008396	oculodental syndrome, Rutherfurd type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0008400	salivary duct calculi	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.
http://purl.obolibrary.org/obo/MONDO_0008401	pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).
http://purl.obolibrary.org/obo/MONDO_0008402	cleft palate-large ears-small head syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.
http://purl.obolibrary.org/obo/MONDO_0008403	scalp defects-postaxial polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A.
http://purl.obolibrary.org/obo/MONDO_0008404	scalp-ear-nipple syndrome	http://purl.obolibrary.org/obo/MONDO_0019294	mixed dermis disorder		Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0008410	Scheuermann disease	http://purl.obolibrary.org/obo/MONDO_0018383	osteonecrosis of genetic origin		A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.
http://purl.obolibrary.org/obo/MONDO_0008411	ulnar-mammary syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.
http://purl.obolibrary.org/obo/MONDO_0008412	intestinal schistosomiasis	http://purl.obolibrary.org/obo/MONDO_0024271	intestinal helminthiasis		An intestinal infection that is caused by Schistosoma japonicum.
http://purl.obolibrary.org/obo/MONDO_0008420	seborrheic keratosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.
http://purl.obolibrary.org/obo/MONDO_0008421	flat face-microstomia-ear anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.
http://purl.obolibrary.org/obo/MONDO_0008422	autosomal dominant sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0020099	inherited sideroblastic anemia		Autosomal dominant form of sideroblastic anemia.
http://purl.obolibrary.org/obo/MONDO_0008425	omphalocele syndrome, Shprintzen-Goldberg type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
http://purl.obolibrary.org/obo/MONDO_0008428	septooptic dysplasia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
http://purl.obolibrary.org/obo/MONDO_0008429	Singleton-Merten dysplasia	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
http://purl.obolibrary.org/obo/MONDO_0008433	small cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0005454	lung neuroendocrine neoplasm		Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.
http://purl.obolibrary.org/obo/MONDO_0008434	Smith-Magenis syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
http://purl.obolibrary.org/obo/MONDO_0008436	Sneddon syndrome	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.
http://purl.obolibrary.org/obo/MONDO_0008437	hereditary spastic paraplegia 3A	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.
http://purl.obolibrary.org/obo/MONDO_0008438	hereditary spastic paraplegia 4	http://purl.obolibrary.org/obo/MONDO_0100523	SPAST-related motor disorder		Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
http://purl.obolibrary.org/obo/MONDO_0008442	spastic paraplegia-neuropathy-poikiloderma syndrome	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0008443	spastic paraplegia-precocious puberty syndrome	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.
http://purl.obolibrary.org/obo/MONDO_0008447	hereditary spherocytosis type 1	http://purl.obolibrary.org/obo/MONDO_0019350	hereditary spherocytosis		Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.
http://purl.obolibrary.org/obo/MONDO_0008449	spina bifida	http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder		A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.
http://purl.obolibrary.org/obo/MONDO_0008450	spinal arachnoiditis	http://purl.obolibrary.org/obo/MONDO_0015304	arachnoiditis		A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.
http://purl.obolibrary.org/obo/MONDO_0008451	neuronopathy, distal hereditary motor, autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.
http://purl.obolibrary.org/obo/MONDO_0008454	spinal intradural arachnoid cysts	http://purl.obolibrary.org/obo/MONDO_0008813	arachnoid cyst		Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.
http://purl.obolibrary.org/obo/MONDO_0008457	spinocerebellar ataxia type 6	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.
http://purl.obolibrary.org/obo/MONDO_0008458	spinocerebellar ataxia type 2	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
http://purl.obolibrary.org/obo/MONDO_0008460	splenogonadal fusion-limb defects-micrognathia syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.
http://purl.obolibrary.org/obo/MONDO_0008464	split hand-foot malformation 1	http://purl.obolibrary.org/obo/MONDO_0016576	split hand-foot malformation		Split-hand/foot malformation mapped to chromosome 7q21.3
http://purl.obolibrary.org/obo/MONDO_0008465	Patterson-Stevenson-Fontaine syndrome	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.
http://purl.obolibrary.org/obo/MONDO_0008466	Karsch-Neugebauer syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
http://purl.obolibrary.org/obo/MONDO_0008467	Czeizel-Losonci syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.
http://purl.obolibrary.org/obo/MONDO_0008469	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.
http://purl.obolibrary.org/obo/MONDO_0008471	spondyloepiphyseal dysplasia congenita	http://purl.obolibrary.org/obo/MONDO_0100602	COL2A1-related spondyloepiphyseal dysplasia		A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
http://purl.obolibrary.org/obo/MONDO_0008472	spondyloepiphyseal dysplasia, MacDermot type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.
http://purl.obolibrary.org/obo/MONDO_0008474	spondyloepiphyseal dysplasia tarda, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.
http://purl.obolibrary.org/obo/MONDO_0008475	spondylolisthesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A condition in which there is forward displacement of a vertebral bone over the on below it.
http://purl.obolibrary.org/obo/MONDO_0008476	spondyloepimetaphyseal dysplasia, Strudwick type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
http://purl.obolibrary.org/obo/MONDO_0008477	spondylometaphyseal dysplasia, Kozlowski type	http://purl.obolibrary.org/obo/MONDO_0018240	TRPV4-related bone disorder		Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
http://purl.obolibrary.org/obo/MONDO_0008478	spondylometaphyseal dysplasia, Schmidt type	http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy		A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
http://purl.obolibrary.org/obo/MONDO_0008479	spondylometaphyseal dysplasia, 'corner fracture' type	http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy		A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
http://purl.obolibrary.org/obo/MONDO_0008486	steatocystoma multiplex-natal teeth syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.
http://purl.obolibrary.org/obo/MONDO_0008487	polycystic ovary syndrome	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.
http://purl.obolibrary.org/obo/MONDO_0008488	holoprosencephaly-radial heart renal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.
http://purl.obolibrary.org/obo/MONDO_0008490	otospondylomegaepiphyseal dysplasia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
http://purl.obolibrary.org/obo/MONDO_0008491	stiff-person syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.
http://purl.obolibrary.org/obo/MONDO_0008492	stiff skin syndrome	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.
http://purl.obolibrary.org/obo/MONDO_0008493	overhydrated hereditary stomatocytosis	http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia		Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.
http://purl.obolibrary.org/obo/MONDO_0008494	cryohydrocytosis	http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia		A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.
http://purl.obolibrary.org/obo/MONDO_0008495	platelet storage pool deficiency	http://purl.obolibrary.org/obo/MONDO_0018795	syndromic constitutional thrombocytopenia		Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.
http://purl.obolibrary.org/obo/MONDO_0008497	Stormorken syndrome	http://purl.obolibrary.org/obo/MONDO_0018795	syndromic constitutional thrombocytopenia		Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0008499	short stature-wormian bones-dextrocardia syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.
http://purl.obolibrary.org/obo/MONDO_0008501	Sturge-Weber syndrome	http://purl.obolibrary.org/obo/MONDO_0042983	neurocutaneous syndrome		Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
http://purl.obolibrary.org/obo/MONDO_0008503	Worster-Drought syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.
http://purl.obolibrary.org/obo/MONDO_0008504	supravalvular aortic stenosis	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.
http://purl.obolibrary.org/obo/MONDO_0008509	distal symphalangism	http://purl.obolibrary.org/obo/MONDO_0000151	symphalangism		Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.
http://purl.obolibrary.org/obo/MONDO_0008510	symphalangism with multiple anomalies of hands and feet	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.
http://purl.obolibrary.org/obo/MONDO_0008511	proximal symphalangism	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
http://purl.obolibrary.org/obo/MONDO_0008514	syndactyly type 3	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
http://purl.obolibrary.org/obo/MONDO_0008515	syndactyly type 4	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).
http://purl.obolibrary.org/obo/MONDO_0008516	syndactyly type 5	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.
http://purl.obolibrary.org/obo/MONDO_0008518	calcaneonavicular coalition	http://purl.obolibrary.org/obo/MONDO_0001411	synostosis		A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
http://purl.obolibrary.org/obo/MONDO_0008520	brachydactyly-elbow wrist dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
http://purl.obolibrary.org/obo/MONDO_0008521	tarsal-carpal coalition syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.
http://purl.obolibrary.org/obo/MONDO_0008523	Blau syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
http://purl.obolibrary.org/obo/MONDO_0008533	teeth, supernumerary	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.
http://purl.obolibrary.org/obo/MONDO_0008538	temporal arteritis	http://purl.obolibrary.org/obo/MONDO_0003346	central nervous system vasculitis		A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.
http://purl.obolibrary.org/obo/MONDO_0008541	spermatic cord torsion	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.
http://purl.obolibrary.org/obo/MONDO_0008542	tetralogy of fallot	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
http://purl.obolibrary.org/obo/MONDO_0008544	tetramelic monodactyly	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0008547	thanatophoric dysplasia type 2	http://purl.obolibrary.org/obo/MONDO_0017042	thanatophoric dysplasia		Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
http://purl.obolibrary.org/obo/MONDO_0008552	platelet-type bleeding disorder 16	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
http://purl.obolibrary.org/obo/MONDO_0008553	platelet-type bleeding disorder 17	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.
http://purl.obolibrary.org/obo/MONDO_0008555	thrombocytopenia 2	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.
http://purl.obolibrary.org/obo/MONDO_0008557	Paris-Trousseau thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0016910	partial deletion of the long arm of chromosome 11		Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
http://purl.obolibrary.org/obo/MONDO_0008558	autoimmune thrombocytopenic purpura	http://purl.obolibrary.org/obo/MONDO_0043768	thrombocytopenic purpura		An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.
http://purl.obolibrary.org/obo/MONDO_0008562	thumb deformity-alopecia-pigmentation anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		A rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0008564	DiGeorge syndrome	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
http://purl.obolibrary.org/obo/MONDO_0008565	familial thyroglossal duct cyst	http://purl.obolibrary.org/obo/MONDO_0015074	thyroid tumor		Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.
http://purl.obolibrary.org/obo/MONDO_0008572	tibia, hypoplasia or aplasia of, with polydactyly	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.
http://purl.obolibrary.org/obo/MONDO_0008575	nicotine dependence	http://purl.obolibrary.org/obo/MONDO_0005303	drug dependence		Physical and psychological dependence on nicotine.
http://purl.obolibrary.org/obo/MONDO_0008582	tooth and nail syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0008585	HELLP syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.
http://purl.obolibrary.org/obo/MONDO_0008586	esophageal atresia/tracheoesophageal fistula	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		A rare congenital, esophageal disorder characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.
http://purl.obolibrary.org/obo/MONDO_0008587	tracheobronchopathia osteochondroplastica	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.
http://purl.obolibrary.org/obo/MONDO_0008588	hereditary geniospasm	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.
http://purl.obolibrary.org/obo/MONDO_0008590	tremor, hereditary essential, 1	http://purl.obolibrary.org/obo/MONDO_0003233	essential tremor		Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.
http://purl.obolibrary.org/obo/MONDO_0008592	tricho-dento-osseous syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
http://purl.obolibrary.org/obo/MONDO_0008594	familial multiple discoid fibromas	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.
http://purl.obolibrary.org/obo/MONDO_0008596	trichorhinophalangeal syndrome type I	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.
http://purl.obolibrary.org/obo/MONDO_0008598	trichodysplasia-xeroderma syndrome	http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly		Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.
http://purl.obolibrary.org/obo/MONDO_0008599	trigeminal neuralgia	http://purl.obolibrary.org/obo/MONDO_0003543	trigeminal nerve disorder		Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.
http://purl.obolibrary.org/obo/MONDO_0008600	trigger thumb	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).
http://purl.obolibrary.org/obo/MONDO_0008606	Say-field-Coldwell syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.
http://purl.obolibrary.org/obo/MONDO_0008607	triphalangeal thumbs-brachyectrodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0008608	Down syndrome	http://purl.obolibrary.org/obo/MONDO_0700124	chromosome 21 disorder		Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
http://purl.obolibrary.org/obo/MONDO_0008610	blue color blindness	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision.
http://purl.obolibrary.org/obo/MONDO_0008611	humerus trochlea aplasia	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.
http://purl.obolibrary.org/obo/MONDO_0008617	inflammatory bowel disease 11	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.
http://purl.obolibrary.org/obo/MONDO_0008618	mesomelic dwarfism, Reinhardt-Pfeiffer type	http://purl.obolibrary.org/obo/MONDO_0023599	mesomelic dysplasia		Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.
http://purl.obolibrary.org/obo/MONDO_0008619	ulna metaphyseal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.
http://purl.obolibrary.org/obo/MONDO_0008620	upper limb mesomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0023599	mesomelic dysplasia		This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.
http://purl.obolibrary.org/obo/MONDO_0008621	uncombable hair syndrome	http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly		Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.
http://purl.obolibrary.org/obo/MONDO_0008622	tricho-retino-dento-digital syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
http://purl.obolibrary.org/obo/MONDO_0008624	Upington disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0008627	ureter cancer	http://purl.obolibrary.org/obo/MONDO_0006295	malignant urinary system neoplasm		A malignant neoplasm involving the ureter
http://purl.obolibrary.org/obo/MONDO_0008628	ureterocele	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra.
http://purl.obolibrary.org/obo/MONDO_0008632	urticaria, aquagenic	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.
http://purl.obolibrary.org/obo/MONDO_0008633	Muckle-Wells syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).
http://purl.obolibrary.org/obo/MONDO_0008636	double uterus-hemivagina-renal agenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.
http://purl.obolibrary.org/obo/MONDO_0008638	varicose disease	http://purl.obolibrary.org/obo/MONDO_0004634	vein disorder		A vascular disease characterized by the presence of enlarged and tortuous veins.
http://purl.obolibrary.org/obo/MONDO_0008640	vasculitis, lymphocytic, nodular	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.
http://purl.obolibrary.org/obo/MONDO_0008641	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.
http://purl.obolibrary.org/obo/MONDO_0008644	velocardiofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
http://purl.obolibrary.org/obo/MONDO_0008645	ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.
http://purl.obolibrary.org/obo/MONDO_0008647	hypertrophic cardiomyopathy 1	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
http://purl.obolibrary.org/obo/MONDO_0008650	posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
http://purl.obolibrary.org/obo/MONDO_0008652	congenital vertical talus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.
http://purl.obolibrary.org/obo/MONDO_0008660	autosomal dominant hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
http://purl.obolibrary.org/obo/MONDO_0008661	vitiligo	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.
http://purl.obolibrary.org/obo/MONDO_0008662	autosomal dominant vitreoretinochoroidopathy	http://purl.obolibrary.org/obo/MONDO_0700240	BEST1-related vitreoretinochoroidopathy		Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.
http://purl.obolibrary.org/obo/MONDO_0008663	snowflake vitreoretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0020248	vitreoretinal degeneration		Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.
http://purl.obolibrary.org/obo/MONDO_0008665	ptosis-vocal cord paralysis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.
http://purl.obolibrary.org/obo/MONDO_0008666	volvulus of midgut	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.
http://purl.obolibrary.org/obo/MONDO_0008667	von Hippel-Lindau disease	http://purl.obolibrary.org/obo/MONDO_0042983	neurocutaneous syndrome		An autosomal dominant disorder caused by pathogenic variants in the VHL gene, leading to an increased risk of various benign and malignant tumors, including hemangioblastomas, retinal hemangiomas, endolymphatic sac tumors, renal cell carcinoma, and pheochromocytomas.
http://purl.obolibrary.org/obo/MONDO_0008668	von Willebrand disease 1	http://purl.obolibrary.org/obo/MONDO_0019565	hereditary von Willebrand disease		Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).
http://purl.obolibrary.org/obo/MONDO_0008670	Waardenburg syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0018094	Waardenburg syndrome		Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
http://purl.obolibrary.org/obo/MONDO_0008671	Waardenburg syndrome type 2A	http://purl.obolibrary.org/obo/MONDO_0019517	Waardenburg syndrome type 2		Waardenburg syndrome Type 2 caused by mutations in the MITF gene.
http://purl.obolibrary.org/obo/MONDO_0008672	Watson syndrome	http://purl.obolibrary.org/obo/MONDO_0011035	neurofibromatosis-Noonan syndrome		Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.
http://purl.obolibrary.org/obo/MONDO_0008673	acrofacial dysostosis, Weyers type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
http://purl.obolibrary.org/obo/MONDO_0008678	Williams syndrome	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
http://purl.obolibrary.org/obo/MONDO_0008681	WAGR syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.
http://purl.obolibrary.org/obo/MONDO_0008682	Denys-Drash syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.
http://purl.obolibrary.org/obo/MONDO_0008684	Wolf-Hirschhorn syndrome	http://purl.obolibrary.org/obo/MONDO_0022762	chromosome 4 short arm deletion		Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
http://purl.obolibrary.org/obo/MONDO_0008685	Wolff-Parkinson-White syndrome	http://purl.obolibrary.org/obo/MONDO_0800484	PRKAG2-related cardiomyopathy		A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.
http://purl.obolibrary.org/obo/MONDO_0008688	WT limb-blood syndrome	http://purl.obolibrary.org/obo/MONDO_0001713	inherited aplastic anemia		WT limb-blood syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0008692	abetalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
http://purl.obolibrary.org/obo/MONDO_0008693	ablepharon macrostomia syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.
http://purl.obolibrary.org/obo/MONDO_0008694	pseudoprogeria syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.
http://purl.obolibrary.org/obo/MONDO_0008695	VPS13A-related neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene.
http://purl.obolibrary.org/obo/MONDO_0008696	acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.
http://purl.obolibrary.org/obo/MONDO_0008698	achalasia	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.
http://purl.obolibrary.org/obo/MONDO_0008699	achalasia microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.
http://purl.obolibrary.org/obo/MONDO_0008700	acheiropody	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
http://purl.obolibrary.org/obo/MONDO_0008701	achondrogenesis type IA	http://purl.obolibrary.org/obo/MONDO_0800080	severe spondylodysplastic dysplasia		Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
http://purl.obolibrary.org/obo/MONDO_0008702	achondrogenesis type II	http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy		Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
http://purl.obolibrary.org/obo/MONDO_0008703	acromesomelic dysplasia 2A	http://purl.obolibrary.org/obo/MONDO_0019696	acromesomelic dysplasia		An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
http://purl.obolibrary.org/obo/MONDO_0008704	short-limb skeletal dysplasia with severe combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
http://purl.obolibrary.org/obo/MONDO_0008706	Ackerman syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.
http://purl.obolibrary.org/obo/MONDO_0008707	acro-renal-mandibular syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0008708	acrocallosal syndrome	http://purl.obolibrary.org/obo/MONDO_0800463	KIF7-related ciliopathy		Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0008709	acrocephalopolydactyly	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.
http://purl.obolibrary.org/obo/MONDO_0008711	Goodman syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.
http://purl.obolibrary.org/obo/MONDO_0008712	acrocraniofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0008713	acrodermatitis enteropathica	http://purl.obolibrary.org/obo/MONDO_0004689	inborn metal metabolism disorder		Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
http://purl.obolibrary.org/obo/MONDO_0008714	acrofacial dysostosis Rodriguez type	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.
http://purl.obolibrary.org/obo/MONDO_0008715	acrofrontofacionasal dysostosis	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
http://purl.obolibrary.org/obo/MONDO_0008716	acrogeria	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.
http://purl.obolibrary.org/obo/MONDO_0008717	acromesomelic dysplasia 2C, Hunter-Thompson type	http://purl.obolibrary.org/obo/MONDO_0019696	acromesomelic dysplasia		Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.
http://purl.obolibrary.org/obo/MONDO_0008719	acrorenal syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0007059	acrorenal syndrome		Autosomal recessive form of acrorenal syndrome.
http://purl.obolibrary.org/obo/MONDO_0008720	congenital isolated adrenocorticotropic hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0016553	isolated congenital hypogonadotropic hypogonadism		A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0008721	medium chain acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017714	acyl-CoA dehydrogenase deficiency		Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
http://purl.obolibrary.org/obo/MONDO_0008722	short chain acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017714	acyl-CoA dehydrogenase deficiency		Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
http://purl.obolibrary.org/obo/MONDO_0008723	very long chain acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
http://purl.obolibrary.org/obo/MONDO_0008729	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0018479	congenital adrenal hyperplasia		Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.
http://purl.obolibrary.org/obo/MONDO_0008733	familial glucocorticoid deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.
http://purl.obolibrary.org/obo/MONDO_0008737	congenital afibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0014452	familial dysfibrinogenemia		Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.
http://purl.obolibrary.org/obo/MONDO_0008740	agnathia-otocephaly complex	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
http://purl.obolibrary.org/obo/MONDO_0008741	PAGOD syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.
http://purl.obolibrary.org/obo/MONDO_0008742	autosomal dominant severe congenital neutropenia	http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia		Autosomal dominant form of severe congenital neutropenia.
http://purl.obolibrary.org/obo/MONDO_0008743	Stimmler syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.
http://purl.obolibrary.org/obo/MONDO_0008744	alar cartilages hypoplasia-coloboma-telecanthus syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
http://purl.obolibrary.org/obo/MONDO_0008746	oculocutaneous albinism type 2	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
http://purl.obolibrary.org/obo/MONDO_0008748	Hermansky-Pudlak syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016501	Hermansky-Pudlak syndrome with pulmonary fibrosis		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.
http://purl.obolibrary.org/obo/MONDO_0008749	pseudohypoparathyroidism type 2	http://purl.obolibrary.org/obo/MONDO_0019992	pseudohypoparathyroidism		Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.
http://purl.obolibrary.org/obo/MONDO_0008750	microcephaly-albinism-digital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
http://purl.obolibrary.org/obo/MONDO_0008752	Alexander disease	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.
http://purl.obolibrary.org/obo/MONDO_0008753	alkaptonuria	http://purl.obolibrary.org/obo/MONDO_0017307	disorder of tyrosine metabolism		A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
http://purl.obolibrary.org/obo/MONDO_0008754	alopecia - contractures - dwarfism - intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
http://purl.obolibrary.org/obo/MONDO_0008755	Moynahan syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A Mendelian disease characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.
http://purl.obolibrary.org/obo/MONDO_0008757	alopecia universalis congenita	http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated		The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.
http://purl.obolibrary.org/obo/MONDO_0008758	mitochondrial DNA depletion syndrome 4a	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
http://purl.obolibrary.org/obo/MONDO_0008759	oxoglutaricaciduria	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.
http://purl.obolibrary.org/obo/MONDO_0008760	beta-ketothiolase deficiency	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.
http://purl.obolibrary.org/obo/MONDO_0008762	autosomal recessive Alport syndrome	http://purl.obolibrary.org/obo/MONDO_0018965	Alport syndrome		Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.
http://purl.obolibrary.org/obo/MONDO_0008763	Alstrom syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.
http://purl.obolibrary.org/obo/MONDO_0008764	Leber congenital amaurosis 1	http://purl.obolibrary.org/obo/MONDO_0100453	GUCY2D-related recessive retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.
http://purl.obolibrary.org/obo/MONDO_0008765	Leber congenital amaurosis 2	http://purl.obolibrary.org/obo/MONDO_0100368	RPE65-related recessive retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.
http://purl.obolibrary.org/obo/MONDO_0008766	amaurosis-hypertrichosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
http://purl.obolibrary.org/obo/MONDO_0008767	neuronal ceroid lipofuscinosis 3	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
http://purl.obolibrary.org/obo/MONDO_0008769	neuronal ceroid lipofuscinosis 2	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
http://purl.obolibrary.org/obo/MONDO_0008771	amelogenesis imperfecta type 1G	http://purl.obolibrary.org/obo/MONDO_0019507	amelogenesis imperfecta		An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.
http://purl.obolibrary.org/obo/MONDO_0008772	amelogenesis imperfecta type 2A1	http://purl.obolibrary.org/obo/MONDO_0015048	amelogenesis imperfecta type 2		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.
http://purl.obolibrary.org/obo/MONDO_0008777	gelatinous drop-like corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
http://purl.obolibrary.org/obo/MONDO_0008779	arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.
http://purl.obolibrary.org/obo/MONDO_0008780	amyotrophic lateral sclerosis type 2, juvenile	http://purl.obolibrary.org/obo/MONDO_0100227	ALS2-related motor neuron disease		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.
http://purl.obolibrary.org/obo/MONDO_0008781	juvenile amyotrophic lateral sclerosis with dementia	http://purl.obolibrary.org/obo/MONDO_0017593	juvenile amyotrophic lateral sclerosis		A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.
http://purl.obolibrary.org/obo/MONDO_0008783	Tangier disease	http://purl.obolibrary.org/obo/MONDO_0001822	hypolipoproteinemia		Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.
http://purl.obolibrary.org/obo/MONDO_0008788	IRIDA syndrome	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
http://purl.obolibrary.org/obo/MONDO_0008792	familial angiolipomatosis	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.
http://purl.obolibrary.org/obo/MONDO_0008795	aniridia-cerebellar ataxia-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0011119	iridogoniodysgenesis		Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0008796	aniridia-renal agenesis-psychomotor retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
http://purl.obolibrary.org/obo/MONDO_0008797	anodontia	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.
http://purl.obolibrary.org/obo/MONDO_0008798	nonsyndromic congenital nail disorder 4	http://purl.obolibrary.org/obo/MONDO_0019211	isolated congenital anonychia		Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.
http://purl.obolibrary.org/obo/MONDO_0008800	microphthalmia with limb anomalies	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
http://purl.obolibrary.org/obo/MONDO_0008803	Antley-Bixler syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
http://purl.obolibrary.org/obo/MONDO_0008806	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
http://purl.obolibrary.org/obo/MONDO_0008808	aplasia cutis congenita-intestinal lymphangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019294	mixed dermis disorder		Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
http://purl.obolibrary.org/obo/MONDO_0008811	XK aprosencephaly	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
http://purl.obolibrary.org/obo/MONDO_0008812	AREDYLD syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0008813	arachnoid cyst	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)
http://purl.obolibrary.org/obo/MONDO_0008814	arginase deficiency	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
http://purl.obolibrary.org/obo/MONDO_0008815	argininosuccinic aciduria	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.
http://purl.obolibrary.org/obo/MONDO_0008818	arterial tortuosity syndrome	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
http://purl.obolibrary.org/obo/MONDO_0008823	arthrogryposis multiplex congenita 2, neurogenic type	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
http://purl.obolibrary.org/obo/MONDO_0008824	fetal akinesia deformation sequence	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.
http://purl.obolibrary.org/obo/MONDO_0008825	arthrogryposis multiplex congenita-whistling face syndrome	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
http://purl.obolibrary.org/obo/MONDO_0008826	arthrogryposis-hyperkeratosis syndrome, lethal form	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.
http://purl.obolibrary.org/obo/MONDO_0008827	progressive pseudorheumatoid arthropathy of childhood	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.
http://purl.obolibrary.org/obo/MONDO_0008828	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
http://purl.obolibrary.org/obo/MONDO_0008829	chylous ascites	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.
http://purl.obolibrary.org/obo/MONDO_0008830	aspartylglucosaminuria	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
http://purl.obolibrary.org/obo/MONDO_0008831	asphyxiating thoracic dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
http://purl.obolibrary.org/obo/MONDO_0008832	right atrial isomerism	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.
http://purl.obolibrary.org/obo/MONDO_0008838	ataxia - deafness - intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0016612	X-linked cerebellar ataxia		This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0008840	ataxia telangiectasia	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
http://purl.obolibrary.org/obo/MONDO_0008842	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	http://purl.obolibrary.org/obo/MONDO_0011457	ataxia-telangiectasia-like disorder		A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
http://purl.obolibrary.org/obo/MONDO_0008846	atransferrinemia	http://purl.obolibrary.org/obo/MONDO_0017763	disorder of iron metabolism and transport		Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
http://purl.obolibrary.org/obo/MONDO_0008847	atrichia with papular lesions	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
http://purl.obolibrary.org/obo/MONDO_0008848	atrioventricular dissociation	http://purl.obolibrary.org/obo/MONDO_0100042	cardiac conduction defect		Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.
http://purl.obolibrary.org/obo/MONDO_0008850	Cooper-Jabs syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0008853	Barber-Say syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
http://purl.obolibrary.org/obo/MONDO_0008854	Bardet-Biedl syndrome 1	http://purl.obolibrary.org/obo/MONDO_1040043	BBS1-related ciliopathy		A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/MONDO_0008855	MHC class II deficiency	http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency		Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.
http://purl.obolibrary.org/obo/MONDO_0008857	Beemer-Ertbruggen syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.
http://purl.obolibrary.org/obo/MONDO_0008858	Behr syndrome	http://purl.obolibrary.org/obo/MONDO_0800181	OPA1-related optic atrophy with or without extraocular features		A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
http://purl.obolibrary.org/obo/MONDO_0008862	3-methylcrotonyl-CoA carboxylase 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0018950	3-methylcrotonyl-CoA carboxylase deficiency		Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.
http://purl.obolibrary.org/obo/MONDO_0008863	sitosterolemia	http://purl.obolibrary.org/obo/MONDO_0015905	syndromic dyslipidemia		A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
http://purl.obolibrary.org/obo/MONDO_0008864	Biemond syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.
http://purl.obolibrary.org/obo/MONDO_0008865	Bietti crystalline corneoretinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0016420	familial flecked retinopathy		Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.
http://purl.obolibrary.org/obo/MONDO_0008867	biliary atresia	http://purl.obolibrary.org/obo/MONDO_0006322	non-neoplastic bile duct disorder		A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occurring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.
http://purl.obolibrary.org/obo/MONDO_0008870	bird headed-dwarfism, Montreal type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.
http://purl.obolibrary.org/obo/MONDO_0008871	microcephalic osteodysplastic primordial dwarfism type I	http://purl.obolibrary.org/obo/MONDO_0000060	microcephalic osteodysplastic primordial dwarfism		A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.
http://purl.obolibrary.org/obo/MONDO_0008872	microcephalic osteodysplastic primordial dwarfism type II	http://purl.obolibrary.org/obo/MONDO_0000060	microcephalic osteodysplastic primordial dwarfism		A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
http://purl.obolibrary.org/obo/MONDO_0008874	Bangstad syndrome	http://purl.obolibrary.org/obo/MONDO_0015126	polyendocrinopathy		Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.
http://purl.obolibrary.org/obo/MONDO_0008875	blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0008876	Bloom syndrome	http://purl.obolibrary.org/obo/MONDO_0020629	microcephaly, growth restriction and increased sister chromatid exchange		Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.
http://purl.obolibrary.org/obo/MONDO_0008877	blue diaper syndrome	http://purl.obolibrary.org/obo/MONDO_0019216	inborn disorder of amino acid transport		Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria.
http://purl.obolibrary.org/obo/MONDO_0008878	bone dysplasia, lethal Holmgren type	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0008879	Bowen-Conradi syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.
http://purl.obolibrary.org/obo/MONDO_0008881	kyphomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.
http://purl.obolibrary.org/obo/MONDO_0008882	congenital bowing of long bones	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.
http://purl.obolibrary.org/obo/MONDO_0008884	oculoosteocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A syndrome is characterized by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0008885	Elsahy-Waters syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.
http://purl.obolibrary.org/obo/MONDO_0008889	thromboangiitis obliterans	http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease		A rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.
http://purl.obolibrary.org/obo/MONDO_0008890	progressive bulbar palsy	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.
http://purl.obolibrary.org/obo/MONDO_0008893	C syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0008894	cataract-hypertrichosis-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0008895	hereditary arterial and articular multiple calcification syndrome	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.
http://purl.obolibrary.org/obo/MONDO_0008896	campomelia, Cumming type	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
http://purl.obolibrary.org/obo/MONDO_0008898	camptodactyly syndrome, Guadalajara type 1	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
http://purl.obolibrary.org/obo/MONDO_0008899	camptodactyly syndrome, Guadalajara type 2	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.
http://purl.obolibrary.org/obo/MONDO_0008900	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.
http://purl.obolibrary.org/obo/MONDO_0008901	Tel Hashomer camptodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0020120	skeletal muscle disorder		Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.
http://purl.obolibrary.org/obo/MONDO_0008903	lung cancer	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		A malignant neoplasm involving the lung.
http://purl.obolibrary.org/obo/MONDO_0008907	PMM2-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
http://purl.obolibrary.org/obo/MONDO_0008910	carboxypeptidase N deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.
http://purl.obolibrary.org/obo/MONDO_0008917	heart defects-limb shortening syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.
http://purl.obolibrary.org/obo/MONDO_0008918	carnitine-acylcarnitine translocase deficiency	http://purl.obolibrary.org/obo/MONDO_0017713	disorder of fatty acid oxidation and ketogenesis		Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
http://purl.obolibrary.org/obo/MONDO_0008919	systemic primary carnitine deficiency disease	http://purl.obolibrary.org/obo/MONDO_0017713	disorder of fatty acid oxidation and ketogenesis		Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
http://purl.obolibrary.org/obo/MONDO_0008922	Sengers syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
http://purl.obolibrary.org/obo/MONDO_0008923	autosomal recessive palmoplantar keratoderma and congenital alopecia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
http://purl.obolibrary.org/obo/MONDO_0008924	congenital cataract-ichthyosis syndrome	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0008925	cataract 46 juvenile-onset	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.
http://purl.obolibrary.org/obo/MONDO_0008928	cataract-ataxia-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0008931	Cenani-Lenz syndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
http://purl.obolibrary.org/obo/MONDO_0008934	cerebellar ataxia-ectodermal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
http://purl.obolibrary.org/obo/MONDO_0008935	cerebellar ataxia-hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.
http://purl.obolibrary.org/obo/MONDO_0008938	early-onset cerebellar ataxia with retained tendon reflexes	http://purl.obolibrary.org/obo/MONDO_0020046	autosomal recessive degenerative and progressive cerebellar ataxia		Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.
http://purl.obolibrary.org/obo/MONDO_0008939	isolated cerebellar hypoplasia/agenesis	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
http://purl.obolibrary.org/obo/MONDO_0008943	autosomal recessive spinocerebellar ataxia 2	http://purl.obolibrary.org/obo/MONDO_0020043	autosomal recessive congenital cerebellar ataxia		The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.
http://purl.obolibrary.org/obo/MONDO_0008944	Joubert syndrome 1	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.
http://purl.obolibrary.org/obo/MONDO_0008945	myoclonic cerebellar dyssynergia	http://purl.obolibrary.org/obo/MONDO_0000114	cerebelloparenchymal disorder		A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
http://purl.obolibrary.org/obo/MONDO_0008947	bilateral striopallidodentate calcinosis	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
http://purl.obolibrary.org/obo/MONDO_0008948	cerebrotendinous xanthomatosis	http://purl.obolibrary.org/obo/MONDO_0019218	inborn disorder of bile acid synthesis		Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
http://purl.obolibrary.org/obo/MONDO_0008958	Klippel-Feil syndrome 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0001029	Klippel-Feil syndrome		Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.
http://purl.obolibrary.org/obo/MONDO_0008961	Charcot-Marie-Tooth disease type 4A	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.
http://purl.obolibrary.org/obo/MONDO_0008962	Griscelli syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.
http://purl.obolibrary.org/obo/MONDO_0008963	Chediak-Higashi syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
http://purl.obolibrary.org/obo/MONDO_0008964	congenital secretory chloride diarrhea 1	http://purl.obolibrary.org/obo/MONDO_0045032	congenital secretory diarrhea		Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.
http://purl.obolibrary.org/obo/MONDO_0008965	CHARGE syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
http://purl.obolibrary.org/obo/MONDO_0008966	Aagenaes syndrome	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
http://purl.obolibrary.org/obo/MONDO_0008967	congenital bile acid synthesis defect 4	http://purl.obolibrary.org/obo/MONDO_0018841	congenital bile acid synthesis defect		An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
http://purl.obolibrary.org/obo/MONDO_0008970	chondrodysplasia Blomstrand type	http://purl.obolibrary.org/obo/MONDO_0019702	neonatal osteosclerotic dysplasia		Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
http://purl.obolibrary.org/obo/MONDO_0008972	rhizomelic chondrodysplasia punctata type 1	http://purl.obolibrary.org/obo/MONDO_0100272	peroxisome biogenesis disorder due to PEX7 defect		A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.
http://purl.obolibrary.org/obo/MONDO_0008973	chondrodysplasia punctata, Toriello type	http://purl.obolibrary.org/obo/MONDO_0015775	non-rhizomelic chondrodysplasia punctata		Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.
http://purl.obolibrary.org/obo/MONDO_0008974	Greenberg dysplasia	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
http://purl.obolibrary.org/obo/MONDO_0008975	otospondylomegaepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
http://purl.obolibrary.org/obo/MONDO_0008977	chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.
http://purl.obolibrary.org/obo/MONDO_0008978	chordoma	http://purl.obolibrary.org/obo/MONDO_0002597	notochordal tumor		Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.
http://purl.obolibrary.org/obo/MONDO_0008979	chorea, benign familial	http://purl.obolibrary.org/obo/MONDO_0001595	choreatic disease		Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.
http://purl.obolibrary.org/obo/MONDO_0008980	ataxia-hypogonadism-choroidal dystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.
http://purl.obolibrary.org/obo/MONDO_0008981	infantile choroidocerebral calcification syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.
http://purl.obolibrary.org/obo/MONDO_0008991	Verloove Vanhorick-Brubakk syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
http://purl.obolibrary.org/obo/MONDO_0008992	Juberg-Hayward syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0008993	cleft palate-stapes fixation-oligodontia syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.
http://purl.obolibrary.org/obo/MONDO_0008995	Yunis-Varon syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0008999	Cohen syndrome	http://purl.obolibrary.org/obo/MONDO_0100598	autosomal recessive syndromic intellectual disability		Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
http://purl.obolibrary.org/obo/MONDO_0009000	familial reactive perforating collagenosis	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.
http://purl.obolibrary.org/obo/MONDO_0009001	macular coloboma-cleft palate-hallux valgus syndrome	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009003	achromatopsia 2	http://purl.obolibrary.org/obo/MONDO_0800102	CNGA3-related retinopathy		Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.
http://purl.obolibrary.org/obo/MONDO_0009006	complement component 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015699	immunodeficiency due to a classical component pathway complement deficiency		Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.
http://purl.obolibrary.org/obo/MONDO_0009007	Jalili syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).
http://purl.obolibrary.org/obo/MONDO_0009010	aortic arch interruption	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.
http://purl.obolibrary.org/obo/MONDO_0009012	multiple pterygium-malignant hyperthermia syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0009014	cornea plana 2	http://purl.obolibrary.org/obo/MONDO_0000733	cornea plana		Any cornea plana in which the cause of the disease is a mutation in the KERA gene.
http://purl.obolibrary.org/obo/MONDO_0009015	corneal dystrophy-perceptive deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0009016	band keratopathy	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.
http://purl.obolibrary.org/obo/MONDO_0009018	central cloudy dystrophy of François	http://purl.obolibrary.org/obo/MONDO_0020214	posterior corneal dystrophy		Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.
http://purl.obolibrary.org/obo/MONDO_0009019	congenital hereditary endothelial dystrophy of cornea	http://purl.obolibrary.org/obo/MONDO_0020214	posterior corneal dystrophy		A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
http://purl.obolibrary.org/obo/MONDO_0009020	macular corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.
http://purl.obolibrary.org/obo/MONDO_0009021	Toriello-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
http://purl.obolibrary.org/obo/MONDO_0009022	corpus callosum, agenesis of	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.
http://purl.obolibrary.org/obo/MONDO_0009024	cortical blindness-intellectual disability-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly.
http://purl.obolibrary.org/obo/MONDO_0009025	apparent mineralocorticoid excess	http://purl.obolibrary.org/obo/MONDO_0005523	steroid inherited metabolic disorder		Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
http://purl.obolibrary.org/obo/MONDO_0009026	Costello syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
http://purl.obolibrary.org/obo/MONDO_0009028	Crane-Heise syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
http://purl.obolibrary.org/obo/MONDO_0009031	craniodiaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0015465	craniometaphyseal dysplasia		Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
http://purl.obolibrary.org/obo/MONDO_0009033	temtamy syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009034	craniofacial dyssynostosis	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.
http://purl.obolibrary.org/obo/MONDO_0009035	craniometaphyseal dysplasia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015465	craniometaphyseal dysplasia		Autosomal recessive form of craniometaphyseal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0009036	cardiocranial syndrome, Pfeiffer type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).
http://purl.obolibrary.org/obo/MONDO_0009038	craniosynostosis-fibular aplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.
http://purl.obolibrary.org/obo/MONDO_0009039	Baller-Gerold syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
http://purl.obolibrary.org/obo/MONDO_0009041	craniosynostosis-intellectual disability-clefting syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.
http://purl.obolibrary.org/obo/MONDO_0009042	craniotelencephalic dysplasia	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.
http://purl.obolibrary.org/obo/MONDO_0009044	Crigler-Najjar syndrome	http://purl.obolibrary.org/obo/MONDO_0002408	hereditary hyperbilirubinemia		Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.
http://purl.obolibrary.org/obo/MONDO_0009045	cataract-nephropathy-encephalopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.
http://purl.obolibrary.org/obo/MONDO_0009046	Fraser syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
http://purl.obolibrary.org/obo/MONDO_0009047	cryptorchidism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.
http://purl.obolibrary.org/obo/MONDO_0009050	Cushing disease due to pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0021227	adrenal gland neoplasm		A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma.
http://purl.obolibrary.org/obo/MONDO_0009051	cutaneous photosensitivity-lethal colitis syndrome	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.
http://purl.obolibrary.org/obo/MONDO_0009055	cutis marmorata telangiectatica congenita	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.
http://purl.obolibrary.org/obo/MONDO_0009058	cystathioninuria	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.
http://purl.obolibrary.org/obo/MONDO_0009061	cystic fibrosis	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations.
http://purl.obolibrary.org/obo/MONDO_0009062	cystic fibrosis-gastritis-megaloblastic anemia syndrome	http://purl.obolibrary.org/obo/MONDO_0009061	cystic fibrosis		A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
http://purl.obolibrary.org/obo/MONDO_0009064	ocular cystinosis	http://purl.obolibrary.org/obo/MONDO_0016239	cystinosis		Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.
http://purl.obolibrary.org/obo/MONDO_0009066	juvenile nephropathic cystinosis	http://purl.obolibrary.org/obo/MONDO_0100151	nephropathic cystinosis		Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
http://purl.obolibrary.org/obo/MONDO_0009067	cystinuria	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.
http://purl.obolibrary.org/obo/MONDO_0009069	congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	http://purl.obolibrary.org/obo/MONDO_0009723	Leigh syndrome		Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
http://purl.obolibrary.org/obo/MONDO_0009070	D-glyceric aciduria	http://purl.obolibrary.org/obo/MONDO_0800152	disorder of galactose and fructose metabolism		A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.
http://purl.obolibrary.org/obo/MONDO_0009071	hereditary renal hypouricemia	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).
http://purl.obolibrary.org/obo/MONDO_0009072	Dandy-Walker syndrome	http://purl.obolibrary.org/obo/MONDO_0002427	cerebellar disorder		Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.
http://purl.obolibrary.org/obo/MONDO_0009073	Ritscher-Schinzel syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019078	Ritscher-Schinzel syndrome		Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.
http://purl.obolibrary.org/obo/MONDO_0009074	facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009075	Dandy-Walker malformation-postaxial polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.
http://purl.obolibrary.org/obo/MONDO_0009076	autosomal recessive nonsyndromic hearing loss 1A	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.
http://purl.obolibrary.org/obo/MONDO_0009079	DOORS syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.
http://purl.obolibrary.org/obo/MONDO_0009080	split hand-foot malformation 1 with sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009084	conductive deafness-ptosis-skeletal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.
http://purl.obolibrary.org/obo/MONDO_0009085	deafness-vitiligo-achalasia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.
http://purl.obolibrary.org/obo/MONDO_0009086	deafness-small bowel diverticulosis-neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).
http://purl.obolibrary.org/obo/MONDO_0009089	deafness-oligodontia syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009091	non-acquired combined pituitary hormone deficiency with spine abnormalities	http://purl.obolibrary.org/obo/MONDO_0018762	non-acquired combined pituitary hormone deficiency		Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
http://purl.obolibrary.org/obo/MONDO_0009092	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.
http://purl.obolibrary.org/obo/MONDO_0009093	dermatoleukodystrophy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.
http://purl.obolibrary.org/obo/MONDO_0009094	dermochondrocorneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009095	dermatoosteolysis, Kirghizian type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009101	Wolfram syndrome 1	http://purl.obolibrary.org/obo/MONDO_0700293	WFS1-related disorder		Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.
http://purl.obolibrary.org/obo/MONDO_0009104	Donnai-Barrow syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.
http://purl.obolibrary.org/obo/MONDO_0009107	diastrophic dysplasia	http://purl.obolibrary.org/obo/MONDO_0100592	SLC26A2-related skeletal dysplasia		Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
http://purl.obolibrary.org/obo/MONDO_0009108	hyperdibasic aminoaciduria type 1	http://purl.obolibrary.org/obo/MONDO_0019216	inborn disorder of amino acid transport		Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.
http://purl.obolibrary.org/obo/MONDO_0009109	lysinuric protein intolerance	http://purl.obolibrary.org/obo/MONDO_0019216	inborn disorder of amino acid transport		Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism.
http://purl.obolibrary.org/obo/MONDO_0009110	dicarboxylic aminoaciduria	http://purl.obolibrary.org/obo/MONDO_0019216	inborn disorder of amino acid transport		Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009112	rhizomelic chondrodysplasia punctata type 2	http://purl.obolibrary.org/obo/MONDO_0100273	glyceronephosphate O-acyltransferase deficiency		Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
http://purl.obolibrary.org/obo/MONDO_0009114	congenital sucrase-isomaltase deficiency	http://purl.obolibrary.org/obo/MONDO_0004905	intestinal disaccharidase deficiency		A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.
http://purl.obolibrary.org/obo/MONDO_0009115	congenital lactase deficiency	http://purl.obolibrary.org/obo/MONDO_0017706	disorder of carbohydrate transmembrane transport and absorption		Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.
http://purl.obolibrary.org/obo/MONDO_0009120	diverticulosis of bowel, hernia, and retinal detachment	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.
http://purl.obolibrary.org/obo/MONDO_0009121	von Voss-Cherstvoy syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.
http://purl.obolibrary.org/obo/MONDO_0009123	orthostatic hypotension 1	http://purl.obolibrary.org/obo/MONDO_0021272	inherited orthostatic hypotension		A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
http://purl.obolibrary.org/obo/MONDO_0009124	Dubowitz syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009126	duodenal atresia	http://purl.obolibrary.org/obo/MONDO_0001045	intestinal atresia		Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.
http://purl.obolibrary.org/obo/MONDO_0009131	Riley-Day syndrome	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
http://purl.obolibrary.org/obo/MONDO_0009133	cerebellar ataxia, intellectual disability, and dysequilibrium	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0009138	dysosteosclerosis	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.
http://purl.obolibrary.org/obo/MONDO_0009140	Silverman-Handmaker type dyssegmental dysplasia	http://purl.obolibrary.org/obo/MONDO_0016151	neuromuscular disease caused by qualitative or quantitative defects of perlecan		Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009141	torsion dystonia 2	http://purl.obolibrary.org/obo/MONDO_1060159	complex movement disorder with or without neurodevelopmental features		A dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.
http://purl.obolibrary.org/obo/MONDO_0009144	Ebstein anomaly	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.
http://purl.obolibrary.org/obo/MONDO_0009145	Schöpf-Schulz-Passarge syndrome	http://purl.obolibrary.org/obo/MONDO_0100358	ectodermal dysplasia WNT10A related		A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
http://purl.obolibrary.org/obo/MONDO_0009146	ectodermal dysplasia-sensorineural deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009149	ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.
http://purl.obolibrary.org/obo/MONDO_0009150	hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009151	cleft lip/palate-ectodermal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0009154	hypothyroidism, congenital, nongoitrous, 5	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.
http://purl.obolibrary.org/obo/MONDO_0009155	EEM syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).
http://purl.obolibrary.org/obo/MONDO_0009156	ectrodactyly-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.
http://purl.obolibrary.org/obo/MONDO_0009157	split hand-foot malformation 6	http://purl.obolibrary.org/obo/MONDO_0016576	split hand-foot malformation		Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.
http://purl.obolibrary.org/obo/MONDO_0009158	Ehlers-Danlos syndrome, fibronectinemic type	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009161	Ehlers-Danlos syndrome, dermatosparaxis type	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.
http://purl.obolibrary.org/obo/MONDO_0009162	Ellis-van Creveld syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
http://purl.obolibrary.org/obo/MONDO_0009166	pontocerebellar hypoplasia type 4	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
http://purl.obolibrary.org/obo/MONDO_0009167	Bonnemann-Meinecke-Reich syndrome	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.
http://purl.obolibrary.org/obo/MONDO_0009169	endocardial fibroelastosis	http://purl.obolibrary.org/obo/MONDO_0000470	endocardium disorder		Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.
http://purl.obolibrary.org/obo/MONDO_0009172	enterocolitis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.
http://purl.obolibrary.org/obo/MONDO_0009173	congenital enteropathy due to enteropeptidase deficiency	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
http://purl.obolibrary.org/obo/MONDO_0009174	protein-losing enteropathy	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.
http://purl.obolibrary.org/obo/MONDO_0009176	epidermodysplasia verruciformis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
http://purl.obolibrary.org/obo/MONDO_0009179	recessive dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
http://purl.obolibrary.org/obo/MONDO_0009181	epidermolysis bullosa simplex 5B, with muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_1060109	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder		A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
http://purl.obolibrary.org/obo/MONDO_0009182	junctional epidermolysis bullosa Herlitz type	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.
http://purl.obolibrary.org/obo/MONDO_0009183	junctional epidermolysis bullosa with pyloric atresia	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
http://purl.obolibrary.org/obo/MONDO_0009185	amelocerebrohypohidrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
http://purl.obolibrary.org/obo/MONDO_0009187	celiac disease-epilepsy-cerebral calcification syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.
http://purl.obolibrary.org/obo/MONDO_0009188	epilepsy-telangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0009189	multiple epiphyseal dysplasia type 4	http://purl.obolibrary.org/obo/MONDO_0100592	SLC26A2-related skeletal dysplasia		Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
http://purl.obolibrary.org/obo/MONDO_0009191	Lowry-Wood syndrome	http://purl.obolibrary.org/obo/MONDO_0100558	RNU4ATAC spectrum disorder		Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009192	Wolcott-Rallison syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
http://purl.obolibrary.org/obo/MONDO_0009196	ermine phenotype	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
http://purl.obolibrary.org/obo/MONDO_0009197	transient erythroblastopenia of childhood	http://purl.obolibrary.org/obo/MONDO_0020113	primary acquired red cell aplasia		An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.
http://purl.obolibrary.org/obo/MONDO_0009198	congenital lethal erythroderma	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0009200	eyebrow duplication-syndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009204	lethal faciocardiomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.
http://purl.obolibrary.org/obo/MONDO_0009205	faciocardiorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.
http://purl.obolibrary.org/obo/MONDO_0009210	congenital factor V deficiency	http://purl.obolibrary.org/obo/MONDO_0020586	factor V deficiency		Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
http://purl.obolibrary.org/obo/MONDO_0009213	Fanconi anemia complementation group C	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.
http://purl.obolibrary.org/obo/MONDO_0009214	Fanconi anemia complementation group D2	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.
http://purl.obolibrary.org/obo/MONDO_0009215	Fanconi anemia complementation group A	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.
http://purl.obolibrary.org/obo/MONDO_0009217	Fanconi-like syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.
http://purl.obolibrary.org/obo/MONDO_0009218	Farber lipogranulomatosis	http://purl.obolibrary.org/obo/MONDO_0100524	ASAH1-related sphingolipidosis		A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
http://purl.obolibrary.org/obo/MONDO_0009221	femur-fibula-ulna complex	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.
http://purl.obolibrary.org/obo/MONDO_0009222	Gollop-Wolfgang complex	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.
http://purl.obolibrary.org/obo/MONDO_0009223	hypogonadotropic hypogonadism 23 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.
http://purl.obolibrary.org/obo/MONDO_0009224	fetal iodine syndrome	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).
http://purl.obolibrary.org/obo/MONDO_0009228	gingival fibromatosis-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0009232	Fuhrmann syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.
http://purl.obolibrary.org/obo/MONDO_0009233	Fibulo-ulnar hypoplasia-renal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0009236	Kandori fleck retina	http://purl.obolibrary.org/obo/MONDO_0016420	familial flecked retinopathy		Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.
http://purl.obolibrary.org/obo/MONDO_0009237	focal epithelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0009238	hereditary folate malabsorption	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
http://purl.obolibrary.org/obo/MONDO_0009239	hypogonadotropic hypogonadism 24 without anosmia	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.
http://purl.obolibrary.org/obo/MONDO_0009240	formiminoglutamic aciduria	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.
http://purl.obolibrary.org/obo/MONDO_0009241	fountain syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
http://purl.obolibrary.org/obo/MONDO_0009242	brittle cornea syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
http://purl.obolibrary.org/obo/MONDO_0009247	frontofacionasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
http://purl.obolibrary.org/obo/MONDO_0009251	fructose-1,6-bisphosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0019225	disorder of gluconeogenesis		Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
http://purl.obolibrary.org/obo/MONDO_0009252	essential fructosuria	http://purl.obolibrary.org/obo/MONDO_0800152	disorder of galactose and fructose metabolism		Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.
http://purl.obolibrary.org/obo/MONDO_0009253	Fryns syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.
http://purl.obolibrary.org/obo/MONDO_0009254	fucosidosis	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.
http://purl.obolibrary.org/obo/MONDO_0009255	galactokinase deficiency	http://purl.obolibrary.org/obo/MONDO_0800152	disorder of galactose and fructose metabolism		Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.
http://purl.obolibrary.org/obo/MONDO_0009256	galactorrhea	http://purl.obolibrary.org/obo/MONDO_0045019	lactation disease		Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.
http://purl.obolibrary.org/obo/MONDO_0009257	galactose epimerase deficiency	http://purl.obolibrary.org/obo/MONDO_0018116	galactosemia		Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.
http://purl.obolibrary.org/obo/MONDO_0009259	gamma-glutamylcysteine synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0020584	anemia due to enzyme disorder		A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
http://purl.obolibrary.org/obo/MONDO_0009261	GM1 gangliosidosis type 2	http://purl.obolibrary.org/obo/MONDO_0018149	GM1 gangliosidosis		GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.
http://purl.obolibrary.org/obo/MONDO_0009262	GM1 gangliosidosis type 3	http://purl.obolibrary.org/obo/MONDO_0018149	GM1 gangliosidosis		GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
http://purl.obolibrary.org/obo/MONDO_0009263	GAPO syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations
http://purl.obolibrary.org/obo/MONDO_0009264	gastroschisis	http://purl.obolibrary.org/obo/MONDO_0100298	abdominal wall malformation		Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.
http://purl.obolibrary.org/obo/MONDO_0009265	Gaucher disease type I	http://purl.obolibrary.org/obo/MONDO_0018383	osteonecrosis of genetic origin		Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
http://purl.obolibrary.org/obo/MONDO_0009266	Gaucher disease type II	http://purl.obolibrary.org/obo/MONDO_0018150	Gaucher disease		Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
http://purl.obolibrary.org/obo/MONDO_0009267	Gaucher disease type III	http://purl.obolibrary.org/obo/MONDO_0018150	Gaucher disease		Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
http://purl.obolibrary.org/obo/MONDO_0009270	genito-palato-cardiac syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
http://purl.obolibrary.org/obo/MONDO_0009271	geroderma osteodysplastica	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009272	German syndrome	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.
http://purl.obolibrary.org/obo/MONDO_0009274	ghosal hematodiaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
http://purl.obolibrary.org/obo/MONDO_0009275	neonatal hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis		Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4
http://purl.obolibrary.org/obo/MONDO_0009276	Bernard-Soulier syndrome	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
http://purl.obolibrary.org/obo/MONDO_0009277	glaucoma 3A	http://purl.obolibrary.org/obo/MONDO_0800472	CYP1B1-related glaucoma with or without anterior segment dysgenesis		An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.
http://purl.obolibrary.org/obo/MONDO_0009279	triple-A syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
http://purl.obolibrary.org/obo/MONDO_0009281	glutaryl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0000129	glutaric aciduria		Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
http://purl.obolibrary.org/obo/MONDO_0009282	multiple acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0000129	glutaric aciduria		A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0009283	glutaric acidemia type 3	http://purl.obolibrary.org/obo/MONDO_0000129	glutaric aciduria		Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009285	gamma-glutamyl transpeptidase deficiency	http://purl.obolibrary.org/obo/MONDO_0040566	inherited glutathione metabolism disease		Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.
http://purl.obolibrary.org/obo/MONDO_0009288	glycogen storage disease Ib	http://purl.obolibrary.org/obo/MONDO_0023258	glycogen storage disease type 1 due to SLC37A4 mutation		A type of glycogenosis due to G6P deficiency.
http://purl.obolibrary.org/obo/MONDO_0009290	glycogen storage disease II	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.
http://purl.obolibrary.org/obo/MONDO_0009291	glycogen storage disease III	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.
http://purl.obolibrary.org/obo/MONDO_0009292	glycogen storage disease due to glycogen branching enzyme deficiency	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.
http://purl.obolibrary.org/obo/MONDO_0009293	glycogen storage disease V	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.
http://purl.obolibrary.org/obo/MONDO_0009294	glycogen storage disease VI	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.
http://purl.obolibrary.org/obo/MONDO_0009295	glycogen storage disease VII	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
http://purl.obolibrary.org/obo/MONDO_0009297	familial renal glucosuria	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).
http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.
http://purl.obolibrary.org/obo/MONDO_0009302	XY type gonadal dysgenesis-associated anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009303	anti-glomerular basement membrane disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.
http://purl.obolibrary.org/obo/MONDO_0009309	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	http://purl.obolibrary.org/obo/MONDO_0018305	chronic granulomatous disease		Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.
http://purl.obolibrary.org/obo/MONDO_0009310	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	http://purl.obolibrary.org/obo/MONDO_0018305	chronic granulomatous disease		Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.
http://purl.obolibrary.org/obo/MONDO_0009313	Grubben-de Cock-Borghgraef syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.
http://purl.obolibrary.org/obo/MONDO_0009315	congenital factor XII deficiency	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
http://purl.obolibrary.org/obo/MONDO_0009318	Hallermann-Streiff syndrome	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0009319	pantothenate kinase-associated neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0009320	Hall-Riggs syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009321	hallux varus-preaxial polysyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.
http://purl.obolibrary.org/obo/MONDO_0009324	Hartnup disease	http://purl.obolibrary.org/obo/MONDO_0019216	inborn disorder of amino acid transport		Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).
http://purl.obolibrary.org/obo/MONDO_0009326	congenital heart block	http://purl.obolibrary.org/obo/MONDO_0000465	atrioventricular block		Heart block that occurs on or before 28 days of life.
http://purl.obolibrary.org/obo/MONDO_0009329	pulmonary venoocclusive disease 2	http://purl.obolibrary.org/obo/MONDO_0009937	pulmonary venoocclusive disease		A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.
http://purl.obolibrary.org/obo/MONDO_0009331	isolated hemihyperplasia	http://purl.obolibrary.org/obo/MONDO_0019716	overgrowth syndrome		Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.
http://purl.obolibrary.org/obo/MONDO_0009333	mullerian derivatives-lymphangiectasia-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.
http://purl.obolibrary.org/obo/MONDO_0009339	congenital bile acid synthesis defect 2	http://purl.obolibrary.org/obo/MONDO_0018841	congenital bile acid synthesis defect		Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.
http://purl.obolibrary.org/obo/MONDO_0009341	Mowat-Wilson syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.
http://purl.obolibrary.org/obo/MONDO_0009344	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0009345	histidinemia	http://purl.obolibrary.org/obo/MONDO_0019228	inborn disorder of histidine metabolism		Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
http://purl.obolibrary.org/obo/MONDO_0009349	holoprosencephaly 1	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.
http://purl.obolibrary.org/obo/MONDO_0009350	Holzgreve-Wagner-Rehder syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.
http://purl.obolibrary.org/obo/MONDO_0009351	homocarnosinosis	http://purl.obolibrary.org/obo/MONDO_0000698	gamma-amino butyric acid metabolism disorder		Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0009354	methylcobalamin deficiency type cblE	http://purl.obolibrary.org/obo/MONDO_0018964	homocystinuria without methylmalonic aciduria		An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.
http://purl.obolibrary.org/obo/MONDO_0009362	growth delay-hydrocephaly-lung hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.
http://purl.obolibrary.org/obo/MONDO_0009363	hydrocephaly-tall stature-joint laxity syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.
http://purl.obolibrary.org/obo/MONDO_0009365	hydrolethalus syndrome 1	http://purl.obolibrary.org/obo/MONDO_0006037	hydrolethalus syndrome		Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.
http://purl.obolibrary.org/obo/MONDO_0009366	normal pressure hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)
http://purl.obolibrary.org/obo/MONDO_0009367	McKusick-Kaufman syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
http://purl.obolibrary.org/obo/MONDO_0009370	L-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0016001	2-hydroxyglutaric aciduria		L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
http://purl.obolibrary.org/obo/MONDO_0009371	3-hydroxyisobutyric aciduria	http://purl.obolibrary.org/obo/MONDO_0037870	valine metabolism disease		3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009372	encephalopathy due to hydroxykynureninuria	http://purl.obolibrary.org/obo/MONDO_0017350	inborn disorder of tryptophan metabolism		Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.
http://purl.obolibrary.org/obo/MONDO_0009373	seizures-intellectual disability due to hydroxylysinuria syndrome	http://purl.obolibrary.org/obo/MONDO_0017351	inborn disorder of lysine and hydroxylysine metabolism		Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.
http://purl.obolibrary.org/obo/MONDO_0009376	carbamoyl phosphate synthetase I deficiency disease	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
http://purl.obolibrary.org/obo/MONDO_0009377	hyperammonemia due to N-acetylglutamate synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.
http://purl.obolibrary.org/obo/MONDO_0009378	hyper-beta-alaninemia	http://purl.obolibrary.org/obo/MONDO_0019238	inborn disorder of pyrimidine metabolism		Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.
http://purl.obolibrary.org/obo/MONDO_0009379	Rotor syndrome	http://purl.obolibrary.org/obo/MONDO_0002408	hereditary hyperbilirubinemia		Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
http://purl.obolibrary.org/obo/MONDO_0009380	Dubin-Johnson syndrome	http://purl.obolibrary.org/obo/MONDO_0002408	hereditary hyperbilirubinemia		Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.
http://purl.obolibrary.org/obo/MONDO_0009387	familial lipoprotein lipase deficiency	http://purl.obolibrary.org/obo/MONDO_0018637	familial chylomicronemia syndrome		Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.
http://purl.obolibrary.org/obo/MONDO_0009388	hyperlysinemia	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.
http://purl.obolibrary.org/obo/MONDO_0009393	ornithine translocase deficiency	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.
http://purl.obolibrary.org/obo/MONDO_0009394	juvenile Paget disease	http://purl.obolibrary.org/obo/MONDO_0005382	bone Paget disease		Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0009395	hyperostosis corticalis generalisata	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
http://purl.obolibrary.org/obo/MONDO_0009397	neonatal severe primary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
http://purl.obolibrary.org/obo/MONDO_0009401	hyperprolinemia type 2	http://purl.obolibrary.org/obo/MONDO_0023419	hyperprolinemia		Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
http://purl.obolibrary.org/obo/MONDO_0009402	acrofrontofacionasal dysostosis 2	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
http://purl.obolibrary.org/obo/MONDO_0009404	hypertelorism, microtia, facial clefting syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
http://purl.obolibrary.org/obo/MONDO_0009405	cervical hypertrichosis-peripheral neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.
http://purl.obolibrary.org/obo/MONDO_0009406	hypertrichotic osteochondrodysplasia Cantu type	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0009411	autoimmune polyendocrine syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0018242	autoimmune hypoparathyroidism		Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.
http://purl.obolibrary.org/obo/MONDO_0009412	scurvy	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.
http://purl.obolibrary.org/obo/MONDO_0009414	glycogen storage disorder due to hepatic glycogen synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.
http://purl.obolibrary.org/obo/MONDO_0009417	hypergonadotropic hypogonadism-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.
http://purl.obolibrary.org/obo/MONDO_0009419	Woodhouse-Sakati syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
http://purl.obolibrary.org/obo/MONDO_0009424	Bartter disease type 2	http://purl.obolibrary.org/obo/MONDO_0015231	Bartter syndrome		Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.
http://purl.obolibrary.org/obo/MONDO_0009425	hypomandibular faciocranial dysostosis	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.
http://purl.obolibrary.org/obo/MONDO_0009426	hypoparathyroidism-retardation-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.
http://purl.obolibrary.org/obo/MONDO_0009430	hypophosphatemic rickets, autosomal recessive, 1	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.
http://purl.obolibrary.org/obo/MONDO_0009431	hereditary hypophosphatemic rickets with hypercalciuria	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.
http://purl.obolibrary.org/obo/MONDO_0009435	hypospadias-intellectual disability, Goldblatt type syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.
http://purl.obolibrary.org/obo/MONDO_0009437	Bamforth-Lazarus syndrome	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
http://purl.obolibrary.org/obo/MONDO_0009439	autosomal recessive congenital ichthyosis 2	http://purl.obolibrary.org/obo/MONDO_0019306	congenital non-bullous ichthyosiform erythroderma		An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.
http://purl.obolibrary.org/obo/MONDO_0009441	autosomal recessive congenital ichthyosis 1	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.
http://purl.obolibrary.org/obo/MONDO_0009443	autosomal recessive congenital ichthyosis 4B	http://purl.obolibrary.org/obo/MONDO_0011026	autosomal recessive congenital ichthyosis 4A		Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.
http://purl.obolibrary.org/obo/MONDO_0009444	ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
http://purl.obolibrary.org/obo/MONDO_0009445	ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.
http://purl.obolibrary.org/obo/MONDO_0009446	ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009448	iminoglycinuria	http://purl.obolibrary.org/obo/MONDO_0019216	inborn disorder of amino acid transport		A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0009452	Vici syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
http://purl.obolibrary.org/obo/MONDO_0009454	immunodeficiency-centromeric instability-facial anomalies syndrome 1	http://purl.obolibrary.org/obo/MONDO_0000133	immunodeficiency-centromeric instability-facial anomalies syndrome		Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.
http://purl.obolibrary.org/obo/MONDO_0009458	Schimke immuno-osseous dysplasia	http://purl.obolibrary.org/obo/MONDO_0015708	immuno-osseous dysplasia		A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
http://purl.obolibrary.org/obo/MONDO_0009461	spermatogenic failure 5	http://purl.obolibrary.org/obo/MONDO_0018394	male infertility with teratozoospermia due to single gene mutation		A male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).
http://purl.obolibrary.org/obo/MONDO_0009465	multiple intestinal atresia	http://purl.obolibrary.org/obo/MONDO_0001045	intestinal atresia		A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.
http://purl.obolibrary.org/obo/MONDO_0009468	pseudotumor cerebri	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.
http://purl.obolibrary.org/obo/MONDO_0009473	isotretinoin-like syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.
http://purl.obolibrary.org/obo/MONDO_0009475	isovaleric acidemia	http://purl.obolibrary.org/obo/MONDO_0019215	classic organic aciduria		Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.
http://purl.obolibrary.org/obo/MONDO_0009477	Stromme syndrome	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).
http://purl.obolibrary.org/obo/MONDO_0009479	Johanson-Blizzard syndrome	http://purl.obolibrary.org/obo/MONDO_0037940	inherited auditory system disease		A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0009480	Joubert syndrome with oculorenal defect	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
http://purl.obolibrary.org/obo/MONDO_0009482	hypogonadotropic hypogonadism 3 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.
http://purl.obolibrary.org/obo/MONDO_0009483	Kapur-Toriello syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.
http://purl.obolibrary.org/obo/MONDO_0009484	primary ciliary dyskinesia 1	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.
http://purl.obolibrary.org/obo/MONDO_0009486	autosomal recessive Kenny-Caffey syndrome	http://purl.obolibrary.org/obo/MONDO_0016516	Kenny-Caffey syndrome		An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.
http://purl.obolibrary.org/obo/MONDO_0009490	Papillon-Lefevre disease	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
http://purl.obolibrary.org/obo/MONDO_0009491	Haim-Munk syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
http://purl.obolibrary.org/obo/MONDO_0009492	succinyl-CoA:3-ketoacid CoA transferase deficiency	http://purl.obolibrary.org/obo/MONDO_0019229	inborn disorder of ketolysis		Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
http://purl.obolibrary.org/obo/MONDO_0009493	Richards-Rundle syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
http://purl.obolibrary.org/obo/MONDO_0009495	Keutel syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0009498	lethal Kniest-like dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.
http://purl.obolibrary.org/obo/MONDO_0009499	Krabbe disease	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.
http://purl.obolibrary.org/obo/MONDO_0009501	metabolic myopathy due to lactate transporter defect	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
http://purl.obolibrary.org/obo/MONDO_0009502	pyruvate dehydrogenase E2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	pyruvate dehydrogenase deficiency		Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
http://purl.obolibrary.org/obo/MONDO_0009504	mitochondrial DNA depletion syndrome 9	http://purl.obolibrary.org/obo/MONDO_0016796	mitochondrial DNA depletion syndrome, encephalomyopathic form		Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.
http://purl.obolibrary.org/obo/MONDO_0009507	Lambert syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009509	Landau-Kleffner syndrome	http://purl.obolibrary.org/obo/MONDO_1060139	GRIN2A-related complex neurodevelopmental disorder		A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome, receptive language is mainly affected, with an acquired auditory verbal agnosia.
http://purl.obolibrary.org/obo/MONDO_0009511	Larsen-like syndrome, B3GAT3 type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
http://purl.obolibrary.org/obo/MONDO_0009512	lethal Larsen-like syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.
http://purl.obolibrary.org/obo/MONDO_0009513	laryngo-onycho-cutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
http://purl.obolibrary.org/obo/MONDO_0009514	Laurence-Moon syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
http://purl.obolibrary.org/obo/MONDO_0009515	Norum disease	http://purl.obolibrary.org/obo/MONDO_0001822	hypolipoproteinemia		A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
http://purl.obolibrary.org/obo/MONDO_0009516	absence deformity of leg-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
http://purl.obolibrary.org/obo/MONDO_0009517	Donohue syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.
http://purl.obolibrary.org/obo/MONDO_0009520	3-hydroxy-3-methylglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0017713	disorder of fatty acid oxidation and ketogenesis		3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.
http://purl.obolibrary.org/obo/MONDO_0009522	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.
http://purl.obolibrary.org/obo/MONDO_0009523	Lichtenstein syndrome	http://purl.obolibrary.org/obo/MONDO_0015134	constitutional neutropenia		Lichstenstein syndrome is characterized by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009525	split hand-foot malformation 3	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
http://purl.obolibrary.org/obo/MONDO_0009527	lipase deficiency, combined	http://purl.obolibrary.org/obo/MONDO_0018637	familial chylomicronemia syndrome		A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.
http://purl.obolibrary.org/obo/MONDO_0009528	chylomicron retention disease	http://purl.obolibrary.org/obo/MONDO_0017774	hypobetalipoproteinemia		Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.
http://purl.obolibrary.org/obo/MONDO_0009530	lipoid proteinosis	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.
http://purl.obolibrary.org/obo/MONDO_0009532	Miller-Dieker lissencephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0022754	chromosome 17p deletion		A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.
http://purl.obolibrary.org/obo/MONDO_0009533	Dahlberg-Borer-Newcomer syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009537	lymphoid interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia		Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.
http://purl.obolibrary.org/obo/MONDO_0009543	prominent glabella-microcephaly-hypogenitalism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
http://purl.obolibrary.org/obo/MONDO_0009547	macrosomia-microphthalmia-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
http://purl.obolibrary.org/obo/MONDO_0009548	renal hypomagnesemia 5 with ocular involvement	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009550	renal hypomagnesemia 3	http://purl.obolibrary.org/obo/MONDO_0017624	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis		Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
http://purl.obolibrary.org/obo/MONDO_0009552	mal de Meleda	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.
http://purl.obolibrary.org/obo/MONDO_0009554	3MC syndrome 3	http://purl.obolibrary.org/obo/MONDO_0017398	3MC syndrome		Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.
http://purl.obolibrary.org/obo/MONDO_0009556	malonic aciduria	http://purl.obolibrary.org/obo/MONDO_0000688	inborn organic aciduria		Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).
http://purl.obolibrary.org/obo/MONDO_0009557	mandibuloacral dysplasia with type A lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.
http://purl.obolibrary.org/obo/MONDO_0009558	Treacher Collins syndrome 3	http://purl.obolibrary.org/obo/MONDO_0700278	POLR1C-related disorder		Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.
http://purl.obolibrary.org/obo/MONDO_0009561	alpha-mannosidosis	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009562	beta-mannosidosis	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease	http://purl.obolibrary.org/obo/MONDO_0019242	inborn disorder of branched-chain amino acid metabolism		An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.
http://purl.obolibrary.org/obo/MONDO_0009564	Marden-Walker syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.
http://purl.obolibrary.org/obo/MONDO_0009565	microcephaly-glomerulonephritis-marfanoid habitus syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		This syndrome is characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.
http://purl.obolibrary.org/obo/MONDO_0009566	marfanoid habitus-autosomal recessive intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009568	mast syndrome	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
http://purl.obolibrary.org/obo/MONDO_0009570	McDonough syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.
http://purl.obolibrary.org/obo/MONDO_0009575	thiamine-responsive megaloblastic anemia syndrome	http://purl.obolibrary.org/obo/MONDO_0000152	thiamine-responsive dysfunction syndrome		Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
http://purl.obolibrary.org/obo/MONDO_0009577	megalocornea-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
http://purl.obolibrary.org/obo/MONDO_0009578	neurocutaneous melanocytosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.
http://purl.obolibrary.org/obo/MONDO_0009580	intellectual disability, autosomal recessive 1	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.
http://purl.obolibrary.org/obo/MONDO_0009581	intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0009582	Mietens syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
http://purl.obolibrary.org/obo/MONDO_0009584	intellectual disability, Buenos-Aires type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.
http://purl.obolibrary.org/obo/MONDO_0009588	Langer mesomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0023599	mesomelic dysplasia		Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
http://purl.obolibrary.org/obo/MONDO_0009592	metaphyseal acroscyphodysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0009593	spondylometaphyseal dysplasia, Sedaghatian type	http://purl.obolibrary.org/obo/MONDO_0040566	inherited glutathione metabolism disease		Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
http://purl.obolibrary.org/obo/MONDO_0009594	metaphyseal chondrodysplasia, Kaitila type	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.
http://purl.obolibrary.org/obo/MONDO_0009595	cartilage-hair hypoplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
http://purl.obolibrary.org/obo/MONDO_0009599	metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009603	3-hydroxyisobutyryl-CoA hydrolase deficiency	http://purl.obolibrary.org/obo/MONDO_0037870	valine metabolism disease		Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
http://purl.obolibrary.org/obo/MONDO_0009605	methemoglobinemia type 4	http://purl.obolibrary.org/obo/MONDO_0018963	hereditary methemoglobinemia		Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.
http://purl.obolibrary.org/obo/MONDO_0009609	methylcobalamin deficiency type cblG	http://purl.obolibrary.org/obo/MONDO_0018964	homocystinuria without methylmalonic aciduria		Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.
http://purl.obolibrary.org/obo/MONDO_0009610	3-methylglutaconic aciduria type 1	http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria		3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
http://purl.obolibrary.org/obo/MONDO_0009611	3-methylglutaconic aciduria type 4	http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria		3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).
http://purl.obolibrary.org/obo/MONDO_0009612	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	http://purl.obolibrary.org/obo/MONDO_0002012	methylmalonic acidemia		Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.
http://purl.obolibrary.org/obo/MONDO_0009613	methylmalonic aciduria, cblA type	http://purl.obolibrary.org/obo/MONDO_0017214	vitamin B12-responsive methylmalonic acidemia		An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.
http://purl.obolibrary.org/obo/MONDO_0009614	methylmalonic aciduria, cblB type	http://purl.obolibrary.org/obo/MONDO_0017214	vitamin B12-responsive methylmalonic acidemia		An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.
http://purl.obolibrary.org/obo/MONDO_0009615	methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	http://purl.obolibrary.org/obo/MONDO_0002012	methylmalonic acidemia		Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0009616	microcephalic primordial dwarfism, Toriello type	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Microcephalic primordial dwarfism, Toriello type is characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009617	microcephaly 1, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100200	microcephaly with intellectual disability		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.
http://purl.obolibrary.org/obo/MONDO_0009618	microcephaly-cardiomyopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009620	Say-Barber-Miller syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.
http://purl.obolibrary.org/obo/MONDO_0009621	microcephaly-cervical spine fusion anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009623	Nijmegen breakage syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
http://purl.obolibrary.org/obo/MONDO_0009624	microcephaly and chorioretinopathy 1	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
http://purl.obolibrary.org/obo/MONDO_0009626	pseudo-TORCH syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.
http://purl.obolibrary.org/obo/MONDO_0009631	isolated microphthalmia 1	http://purl.obolibrary.org/obo/MONDO_0000062	isolated microphthalmia		A microphthalmia that has material basis in variation in the chromosomal region 14q32.
http://purl.obolibrary.org/obo/MONDO_0009635	microvillus inclusion disease	http://purl.obolibrary.org/obo/MONDO_0045032	congenital secretory diarrhea		Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.
http://purl.obolibrary.org/obo/MONDO_0009636	mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.
http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy	http://purl.obolibrary.org/obo/MONDO_0004069	inborn mitochondrial metabolism disorder		Myopathy caused by mitochondrial abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009648	peripheral motor neuropathy-dysautonomia syndrome	http://purl.obolibrary.org/obo/MONDO_0015914	primary orthostatic hypotension		Peripheral motor neuropathy-dysautonomia syndrome is characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009650	mucolipidosis type II	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
http://purl.obolibrary.org/obo/MONDO_0009652	GNPTG-mucolipidosis	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.
http://purl.obolibrary.org/obo/MONDO_0009661	mucopolysaccharidosis type 6	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.
http://purl.obolibrary.org/obo/MONDO_0009662	mucopolysaccharidosis type 7	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.
http://purl.obolibrary.org/obo/MONDO_0009664	mulibrey nanism	http://purl.obolibrary.org/obo/MONDO_0100306	disorder of defective peroxisome oxidative status		A prenatal onset growth disorder with multiorgan manifestations.
http://purl.obolibrary.org/obo/MONDO_0009665	biotinidase deficiency	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
http://purl.obolibrary.org/obo/MONDO_0009666	holocarboxylase synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0019242	inborn disorder of branched-chain amino acid metabolism		A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.
http://purl.obolibrary.org/obo/MONDO_0009669	spinal muscular atrophy, type 1	http://purl.obolibrary.org/obo/MONDO_0019079	proximal spinal muscular atrophy		A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
http://purl.obolibrary.org/obo/MONDO_0009670	lethal congenital contracture syndrome 1	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
http://purl.obolibrary.org/obo/MONDO_0009671	intellectual disability-myopathy-short stature-endocrine defect syndrome	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
http://purl.obolibrary.org/obo/MONDO_0009672	spinal muscular atrophy, type III	http://purl.obolibrary.org/obo/MONDO_0019079	proximal spinal muscular atrophy		Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
http://purl.obolibrary.org/obo/MONDO_0009673	spinal muscular atrophy, type II	http://purl.obolibrary.org/obo/MONDO_0019079	proximal spinal muscular atrophy		Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
http://purl.obolibrary.org/obo/MONDO_0009675	autosomal recessive limb-girdle muscular dystrophy type 2A	http://purl.obolibrary.org/obo/MONDO_0015152	autosomal recessive limb-girdle muscular dystrophy		Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.
http://purl.obolibrary.org/obo/MONDO_0009676	autosomal recessive limb-girdle muscular dystrophy type 2B	http://purl.obolibrary.org/obo/MONDO_0016145	neuromuscular disease caused by qualitative or quantitative defects of dysferlin		Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
http://purl.obolibrary.org/obo/MONDO_0009677	autosomal recessive limb-girdle muscular dystrophy type 2C	http://purl.obolibrary.org/obo/MONDO_0016143	qualitative or quantitative defects of gamma-sarcoglycan		Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
http://purl.obolibrary.org/obo/MONDO_0009678	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
http://purl.obolibrary.org/obo/MONDO_0009683	autosomal recessive limb-girdle muscular dystrophy type 2H	http://purl.obolibrary.org/obo/MONDO_0016153	neuromuscular disease caused by qualitative or quantitative defects of TRIM32		Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
http://purl.obolibrary.org/obo/MONDO_0009685	Miyoshi myopathy	http://purl.obolibrary.org/obo/MONDO_0018949	distal myopathy		A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
http://purl.obolibrary.org/obo/MONDO_0009688	myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0000590	autoimmune disorder of peripheral nervous system		Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.
http://purl.obolibrary.org/obo/MONDO_0009689	congenital myasthenic syndrome 6	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0009690	congenital myasthenic syndrome 10	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.
http://purl.obolibrary.org/obo/MONDO_0009691	mycosis fungoides	http://purl.obolibrary.org/obo/MONDO_0015821	mycosis fungoides and variants		Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.
http://purl.obolibrary.org/obo/MONDO_0009692	primary myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0015610	acquired aplastic anemia		Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.
http://purl.obolibrary.org/obo/MONDO_0009693	plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0005170	myeloid neoplasm		A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0009697	Lafora disease	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.
http://purl.obolibrary.org/obo/MONDO_0009698	Unverricht-Lundborg syndrome	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
http://purl.obolibrary.org/obo/MONDO_0009705	carnitine palmitoyl transferase 1A deficiency	http://purl.obolibrary.org/obo/MONDO_0700284	carnitine palmitoyl transferase deficiency		Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.
http://purl.obolibrary.org/obo/MONDO_0009706	hereditary myopathy with lactic acidosis due to ISCU deficiency	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
http://purl.obolibrary.org/obo/MONDO_0009710	Thomsen and Becker disease	http://purl.obolibrary.org/obo/MONDO_0019119	muscular channelopathy		A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
http://purl.obolibrary.org/obo/MONDO_0009714	myosclerosis	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.
http://purl.obolibrary.org/obo/MONDO_0009717	Schwartz-Jampel syndrome	http://purl.obolibrary.org/obo/MONDO_0016151	neuromuscular disease caused by qualitative or quantitative defects of perlecan		A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).
http://purl.obolibrary.org/obo/MONDO_0009718	myxedema	http://purl.obolibrary.org/obo/MONDO_0005420	hypothyroidism		A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.
http://purl.obolibrary.org/obo/MONDO_0009720	Keipert syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.
http://purl.obolibrary.org/obo/MONDO_0009721	Nathalie syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
http://purl.obolibrary.org/obo/MONDO_0009722	Bailey-Bloch congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
http://purl.obolibrary.org/obo/MONDO_0009724	nail-patella-like renal disease	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.
http://purl.obolibrary.org/obo/MONDO_0009725	nemaline myopathy 2	http://purl.obolibrary.org/obo/MONDO_0015738	childhood-onset nemaline myopathy		An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
http://purl.obolibrary.org/obo/MONDO_0009727	atelosteogenesis type II	http://purl.obolibrary.org/obo/MONDO_0100592	SLC26A2-related skeletal dysplasia		A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
http://purl.obolibrary.org/obo/MONDO_0009728	nephronophthisis 1	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
http://purl.obolibrary.org/obo/MONDO_0009729	nephropathy - deafness - hyperparathyroidism syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Nephropathy-deafness-hyperparathyroidism syndrome is characterized by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009731	nephrosis-deafness-urinary tract-digital malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.
http://purl.obolibrary.org/obo/MONDO_0009732	congenital nephrotic syndrome, Finnish type	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.
http://purl.obolibrary.org/obo/MONDO_0009735	Netherton syndrome	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
http://purl.obolibrary.org/obo/MONDO_0009736	Neu-Laxova syndrome 1	http://purl.obolibrary.org/obo/MONDO_0000179	Neu-Laxova syndrome		Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
http://purl.obolibrary.org/obo/MONDO_0009737	galactosialidosis	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
http://purl.obolibrary.org/obo/MONDO_0009738	sialidosis type 2	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
http://purl.obolibrary.org/obo/MONDO_0009740	neurofaciodigitorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.
http://purl.obolibrary.org/obo/MONDO_0009742	neuroectodermal melanolysosomal disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment.
http://purl.obolibrary.org/obo/MONDO_0009744	neuronal ceroid lipofuscinosis 1	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
http://purl.obolibrary.org/obo/MONDO_0009745	neuronal ceroid lipofuscinosis 5	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
http://purl.obolibrary.org/obo/MONDO_0009748	hereditary sensory and autonomic neuropathy with spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
http://purl.obolibrary.org/obo/MONDO_0009749	giant axonal neuropathy 1	http://purl.obolibrary.org/obo/MONDO_0000128	giant axonal neuropathy		Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.
http://purl.obolibrary.org/obo/MONDO_0009751	neuropathy, hereditary sensory, atypical	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009758	congenital stationary night blindness 1B	http://purl.obolibrary.org/obo/MONDO_0800397	GRM6-related retinopathy		Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.
http://purl.obolibrary.org/obo/MONDO_0009759	mosaic variegated aneuploidy syndrome 1	http://purl.obolibrary.org/obo/MONDO_0000141	mosaic variegated aneuploidy syndrome		Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.
http://purl.obolibrary.org/obo/MONDO_0009760	Norman-Roberts syndrome	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.
http://purl.obolibrary.org/obo/MONDO_0009763	obesity-hypoventilation syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.
http://purl.obolibrary.org/obo/MONDO_0009764	ocular motor apraxia, Cogan type	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
http://purl.obolibrary.org/obo/MONDO_0009768	oculodentodigital dysplasia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008111	oculodentodigital dysplasia		Autosomal recessive form of oculodentodigital dysplasia.
http://purl.obolibrary.org/obo/MONDO_0009769	oculo-palato-cerebral syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009770	3MC syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017398	3MC syndrome		Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.
http://purl.obolibrary.org/obo/MONDO_0009771	oculotrichodysplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009774	cloacal exstrophy	http://purl.obolibrary.org/obo/MONDO_0017919	exstrophy-epispadias complex		A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.
http://purl.obolibrary.org/obo/MONDO_0009775	Oguchi disease-1	http://purl.obolibrary.org/obo/MONDO_0019152	Oguchi disease		Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.
http://purl.obolibrary.org/obo/MONDO_0009777	Oliver syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0009780	lethal omphalocele-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.
http://purl.obolibrary.org/obo/MONDO_0009785	opsismodysplasia	http://purl.obolibrary.org/obo/MONDO_0800080	severe spondylodysplastic dysplasia		Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0009787	3-methylglutaconic aciduria type 3	http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria		3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
http://purl.obolibrary.org/obo/MONDO_0009792	ichthyosis-oral and digital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009793	orofaciodigital syndrome III	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009794	orofaciodigital syndrome IV	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
http://purl.obolibrary.org/obo/MONDO_0009795	orofaciodigital syndrome IX	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).
http://purl.obolibrary.org/obo/MONDO_0009796	ornithine aminotransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.
http://purl.obolibrary.org/obo/MONDO_0009797	orotic aciduria	http://purl.obolibrary.org/obo/MONDO_0020112	vitamin B12- and folate-independent constitutional megaloblastic anemia		An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.
http://purl.obolibrary.org/obo/MONDO_0009798	Primrose syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0009801	familial osteodysplasia, Anderson type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.
http://purl.obolibrary.org/obo/MONDO_0009803	congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009804	osteogenesis imperfecta type 3	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).
http://purl.obolibrary.org/obo/MONDO_0009805	osteogenesis imperfecta type 9	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.
http://purl.obolibrary.org/obo/MONDO_0009807	osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.
http://purl.obolibrary.org/obo/MONDO_0009808	osteoid osteoma	http://purl.obolibrary.org/obo/MONDO_0000631	bone benign neoplasm		A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.
http://purl.obolibrary.org/obo/MONDO_0009810	autosomal recessive distal osteolysis syndrome	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0009813	chronic recurrent multifocal osteomyelitis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.
http://purl.obolibrary.org/obo/MONDO_0009814	osteopenia-intellectual disability-sparse hair syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0009815	autosomal recessive osteopetrosis 1	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.
http://purl.obolibrary.org/obo/MONDO_0009816	autosomal recessive osteopetrosis 2	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.
http://purl.obolibrary.org/obo/MONDO_0009817	autosomal recessive osteopetrosis 5	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.
http://purl.obolibrary.org/obo/MONDO_0009818	autosomal recessive osteopetrosis 3	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
http://purl.obolibrary.org/obo/MONDO_0009820	osteoporosis-pseudoglioma syndrome	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
http://purl.obolibrary.org/obo/MONDO_0009821	lethal osteosclerotic bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0019702	neonatal osteosclerotic dysplasia		Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
http://purl.obolibrary.org/obo/MONDO_0009823	primary hyperoxaluria type 1	http://purl.obolibrary.org/obo/MONDO_0100278	alanine glyoxylate aminotransferase deficiency		A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.
http://purl.obolibrary.org/obo/MONDO_0009824	primary hyperoxaluria type 2	http://purl.obolibrary.org/obo/MONDO_0002474	primary hyperoxaluria		Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
http://purl.obolibrary.org/obo/MONDO_0009825	5-oxoprolinase deficiency	http://purl.obolibrary.org/obo/MONDO_0040566	inherited glutathione metabolism disease		5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
http://purl.obolibrary.org/obo/MONDO_0009830	parkinsonian-pyramidal syndrome	http://purl.obolibrary.org/obo/MONDO_0005180	Parkinson disease		A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.
http://purl.obolibrary.org/obo/MONDO_0009831	malignant pancreatic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021040	pancreatic neoplasm		A malignant neoplasm involving the pancreas.
http://purl.obolibrary.org/obo/MONDO_0009832	pancreatic agenesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
http://purl.obolibrary.org/obo/MONDO_0009833	Shwachman-Diamond syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
http://purl.obolibrary.org/obo/MONDO_0009835	subacute sclerosing panencephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.
http://purl.obolibrary.org/obo/MONDO_0009837	choroid plexus papilloma	http://purl.obolibrary.org/obo/MONDO_0044764	benign choroid plexus neoplasm		Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.
http://purl.obolibrary.org/obo/MONDO_0009838	Parana hard-skin syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.
http://purl.obolibrary.org/obo/MONDO_0009839	progressive supranuclear palsy-parkinsonism syndrome	http://purl.obolibrary.org/obo/MONDO_0020488	atypical progressive supranuclear palsy syndrome		PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.
http://purl.obolibrary.org/obo/MONDO_0009841	PEHO syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.
http://purl.obolibrary.org/obo/MONDO_0009842	Pelger-Huet-like anomaly and episodic fever with abdominal pain	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.
http://purl.obolibrary.org/obo/MONDO_0009843	hypomyelinating leukodystrophy 3	http://purl.obolibrary.org/obo/MONDO_0017226	Pelizaeus-Merzbacher-like disease		Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.
http://purl.obolibrary.org/obo/MONDO_0009845	pelviscapular dysplasia	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0009846	pentosuria	http://purl.obolibrary.org/obo/MONDO_0019231	inborn disorder of pentose phosphate metabolism		Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
http://purl.obolibrary.org/obo/MONDO_0009847	pericardial effusion, chronic	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Chronic form of pericardial effusion (disease).
http://purl.obolibrary.org/obo/MONDO_0009848	dissecting cellulitis of the scalp	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.
http://purl.obolibrary.org/obo/MONDO_0009852	hereditary intrinsic factor deficiency	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
http://purl.obolibrary.org/obo/MONDO_0009855	d-bifunctional protein deficiency	http://purl.obolibrary.org/obo/MONDO_0019233	disorder of peroxisomal beta oxidation		A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.
http://purl.obolibrary.org/obo/MONDO_0009856	Peters plus syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
http://purl.obolibrary.org/obo/MONDO_0009857	persistent Mullerian duct syndrome	http://purl.obolibrary.org/obo/MONDO_0005518	pseudohermaphroditism		Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.
http://purl.obolibrary.org/obo/MONDO_0009858	Pfeiffer-Palm-Teller syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009859	PHAVER syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.
http://purl.obolibrary.org/obo/MONDO_0009861	phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0017306	disorder of phenylalanine metabolism		Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
http://purl.obolibrary.org/obo/MONDO_0009862	dihydropteridine reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0045014	tetrahydrobiopterin metabolic process disease		Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.
http://purl.obolibrary.org/obo/MONDO_0009863	BH4-deficient hyperphenylalaninemia A	http://purl.obolibrary.org/obo/MONDO_0016543	hyperphenylalaninemia due to tetrahydrobiopterin deficiency		An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.
http://purl.obolibrary.org/obo/MONDO_0009865	glycogen storage disease due to phosphoglycerate mutase deficiency	http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis		A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.
http://purl.obolibrary.org/obo/MONDO_0009867	lethal congenital glycogen storage disease of heart	http://purl.obolibrary.org/obo/MONDO_0800484	PRKAG2-related cardiomyopathy		Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.
http://purl.obolibrary.org/obo/MONDO_0009868	glycogen storage disease IXb	http://purl.obolibrary.org/obo/MONDO_0700291	glycogen storage disease IX		A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.
http://purl.obolibrary.org/obo/MONDO_0009869	isolated Pierre-Robin syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.
http://purl.obolibrary.org/obo/MONDO_0009870	pili torti	http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly		Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.
http://purl.obolibrary.org/obo/MONDO_0009871	pili torti-developmental delay-neurological abnormalities syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
http://purl.obolibrary.org/obo/MONDO_0009872	Bjornstad syndrome	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.
http://purl.obolibrary.org/obo/MONDO_0009873	pilodental dysplasia-refractive errors syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.
http://purl.obolibrary.org/obo/MONDO_0009874	Rabson-Mendenhall syndrome	http://purl.obolibrary.org/obo/MONDO_0019280	hypertrichosis		Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).
http://purl.obolibrary.org/obo/MONDO_0009875	achromatopsia 3	http://purl.obolibrary.org/obo/MONDO_0100446	CNGB3-related retinopathy		Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.
http://purl.obolibrary.org/obo/MONDO_0009876	isolated growth hormone deficiency type IA	http://purl.obolibrary.org/obo/MONDO_0000050	isolated congenital growth hormone deficiency		An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/MONDO_0009877	Laron syndrome	http://purl.obolibrary.org/obo/MONDO_0015892	growth hormone insensitivity syndrome		Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.
http://purl.obolibrary.org/obo/MONDO_0009880	short stature-pituitary and cerebellar defects-small sella turcica syndrome	http://purl.obolibrary.org/obo/MONDO_0018762	non-acquired combined pituitary hormone deficiency		Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).
http://purl.obolibrary.org/obo/MONDO_0009883	alpha-2-plasmin inhibitor deficiency	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0009885	Scott syndrome	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
http://purl.obolibrary.org/obo/MONDO_0009887	desquamative interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia		A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.
http://purl.obolibrary.org/obo/MONDO_0009889	autosomal recessive polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0020642	polycystic kidney disease		An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.
http://purl.obolibrary.org/obo/MONDO_0009891	acquired polycythemia vera	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.
http://purl.obolibrary.org/obo/MONDO_0009892	Chuvash polycythemia	http://purl.obolibrary.org/obo/MONDO_0016540	congenital secondary polycythemia		Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
http://purl.obolibrary.org/obo/MONDO_0009894	short-rib thoracic dysplasia 6 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0019662	short rib-polydactyly syndrome, Majewski type		A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.
http://purl.obolibrary.org/obo/MONDO_0009895	postaxial polydactyly-dental and vertebral anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.
http://purl.obolibrary.org/obo/MONDO_0009897	adult polyglucosan body disease	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.
http://purl.obolibrary.org/obo/MONDO_0009900	polysyndactyly-cardiac malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).
http://purl.obolibrary.org/obo/MONDO_0009901	Bartsocas-Papas syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
http://purl.obolibrary.org/obo/MONDO_0009902	cutaneous porphyria	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms.
http://purl.obolibrary.org/obo/MONDO_0009903	postaxial acrofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0009904	Gitelman syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.
http://purl.obolibrary.org/obo/MONDO_0009905	urban-Rogers-Meyer syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
http://purl.obolibrary.org/obo/MONDO_0009908	pterin-4 alpha-carbinolamine dehydratase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0016543	hyperphenylalaninemia due to tetrahydrobiopterin deficiency		Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0009910	Wiedemann-Rautenstrauch syndrome	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0009914	pseudodiastrophic dysplasia	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
http://purl.obolibrary.org/obo/MONDO_0009916	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
http://purl.obolibrary.org/obo/MONDO_0009917	pseudohypoaldosteronism, type IB1, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019161	pseudohypoaldosteronism type 1		Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
http://purl.obolibrary.org/obo/MONDO_0009919	peroxisomal acyl-CoA oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0019233	disorder of peroxisomal beta oxidation		Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
http://purl.obolibrary.org/obo/MONDO_0009920	Acrootoocular syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disk swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
http://purl.obolibrary.org/obo/MONDO_0009921	holoprosencephaly-postaxial polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.
http://purl.obolibrary.org/obo/MONDO_0009923	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.
http://purl.obolibrary.org/obo/MONDO_0009924	vitamin D-dependent rickets, type 1	http://purl.obolibrary.org/obo/MONDO_0024299	vitamin D-dependent rickets		Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
http://purl.obolibrary.org/obo/MONDO_0009925	autosomal recessive inherited pseudoxanthoma elasticum	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An autosomal recessive form of PXE.
http://purl.obolibrary.org/obo/MONDO_0009927	3MC syndrome 2	http://purl.obolibrary.org/obo/MONDO_0017398	3MC syndrome		Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.
http://purl.obolibrary.org/obo/MONDO_0009928	pulmonary alveolar microlithiasis	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0009931	pulmonary atresia-intact ventricular septum syndrome	http://purl.obolibrary.org/obo/MONDO_0020291	hypoplastic right heart syndrome		Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.
http://purl.obolibrary.org/obo/MONDO_0009933	congenital pulmonary lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.
http://purl.obolibrary.org/obo/MONDO_0009934	alveolar capillary dysplasia with misalignment of pulmonary veins	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
http://purl.obolibrary.org/obo/MONDO_0009937	pulmonary venoocclusive disease	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.
http://purl.obolibrary.org/obo/MONDO_0009940	pycnodysostosis	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.
http://purl.obolibrary.org/obo/MONDO_0009942	pyknoachondrogenesis	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
http://purl.obolibrary.org/obo/MONDO_0009945	pyridoxine-dependent epilepsy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
http://purl.obolibrary.org/obo/MONDO_0009946	hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	http://purl.obolibrary.org/obo/MONDO_0006506	congenital nonspherocytic hemolytic anemia		Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
http://purl.obolibrary.org/obo/MONDO_0009948	pyropoikilocytosis, hereditary	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.
http://purl.obolibrary.org/obo/MONDO_0009949	pyruvate carboxylase deficiency disease	http://purl.obolibrary.org/obo/MONDO_0019225	disorder of gluconeogenesis		Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
http://purl.obolibrary.org/obo/MONDO_0009950	pyruvate kinase deficiency of red cells	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
http://purl.obolibrary.org/obo/MONDO_0009952	radioulnar synostosis-developmental delay-hypotonia syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
http://purl.obolibrary.org/obo/MONDO_0009953	leukocyte adhesion deficiency type II	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0009955	rapadilino syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
http://purl.obolibrary.org/obo/MONDO_0009958	adult Refsum disease	http://purl.obolibrary.org/obo/MONDO_0100258	phytanoyl-CoA hydroxylase deficiency		A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
http://purl.obolibrary.org/obo/MONDO_0009959	peroxisome biogenesis disorder type 3B	http://purl.obolibrary.org/obo/MONDO_0100266	peroxisome biogenesis disorder due to PEX12 defect		A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.
http://purl.obolibrary.org/obo/MONDO_0009960	inflammatory bowel disease 1	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.
http://purl.obolibrary.org/obo/MONDO_0009963	Ulbright-Hodes syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009964	short-rib thoracic dysplasia 9 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0100509	IFT140-related recessive ciliopathy		An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/MONDO_0009965	Perlman syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0009971	respiratory distress syndrome in premature infants	http://purl.obolibrary.org/obo/MONDO_0700081	newborn respiratory distress syndrome		Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.
http://purl.obolibrary.org/obo/MONDO_0009973	reticular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
http://purl.obolibrary.org/obo/MONDO_0009974	familial hemophagocytic lymphohistiocytosis type 1	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.
http://purl.obolibrary.org/obo/MONDO_0009975	reticulum cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0020082	dendritic cell tumor		An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0009978	retinal degeneration-nanophthalmos-glaucoma syndrome	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009983	retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
http://purl.obolibrary.org/obo/MONDO_0009984	late-adult onset retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.
http://purl.obolibrary.org/obo/MONDO_0009985	retinohepatoendocrinologic syndrome	http://purl.obolibrary.org/obo/MONDO_0015126	polyendocrinopathy		Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.
http://purl.obolibrary.org/obo/MONDO_0009987	autosomal recessive pericentral pigmentary retinopathy	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.
http://purl.obolibrary.org/obo/MONDO_0009990	Revesz syndrome	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
http://purl.obolibrary.org/obo/MONDO_0009993	embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.
http://purl.obolibrary.org/obo/MONDO_0009994	alveolar rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.
http://purl.obolibrary.org/obo/MONDO_0009996	rhizomelic syndrome, Urbach type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.
http://purl.obolibrary.org/obo/MONDO_0009998	Richieri Costa-Pereira syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009999	autosomal recessive Robinow syndrome	http://purl.obolibrary.org/obo/MONDO_0019978	Robinow syndrome		Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
http://purl.obolibrary.org/obo/MONDO_0010001	ectodermal dysplasia-blindness syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0010002	Rothmund-Thomson syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
http://purl.obolibrary.org/obo/MONDO_0010004	EEC syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
http://purl.obolibrary.org/obo/MONDO_0010006	Sandhoff disease	http://purl.obolibrary.org/obo/MONDO_0017720	GM2 gangliosidosis		A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.
http://purl.obolibrary.org/obo/MONDO_0010008	sarcosinemia	http://purl.obolibrary.org/obo/MONDO_0100477	disorder of methylamine metabolism		Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.
http://purl.obolibrary.org/obo/MONDO_0010010	Schinzel-Giedion syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
http://purl.obolibrary.org/obo/MONDO_0010012	autoimmune polyendocrinopathy type 2	http://purl.obolibrary.org/obo/MONDO_0017278	autoimmune polyendocrinopathy		Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.
http://purl.obolibrary.org/obo/MONDO_0010013	schneckenbecken dysplasia	http://purl.obolibrary.org/obo/MONDO_0800080	severe spondylodysplastic dysplasia		Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
http://purl.obolibrary.org/obo/MONDO_0010016	sclerosteosis 1	http://purl.obolibrary.org/obo/MONDO_0017838	sclerosteosis		Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.
http://purl.obolibrary.org/obo/MONDO_0010017	sea-blue histiocyte syndrome	http://purl.obolibrary.org/obo/MONDO_0019255	sphingolipidosis		A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0010020	congenital generalized lipodystrophy type 2	http://purl.obolibrary.org/obo/MONDO_0018883	Berardinelli-Seip congenital lipodystrophy		Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.
http://purl.obolibrary.org/obo/MONDO_0010023	combined immunodeficiency due to ZAP70 deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.
http://purl.obolibrary.org/obo/MONDO_0010024	Beemer-Langer syndrome	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.
http://purl.obolibrary.org/obo/MONDO_0010026	SHORT syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.
http://purl.obolibrary.org/obo/MONDO_0010028	sialuria	http://purl.obolibrary.org/obo/MONDO_0017736	disorder of sialic acid metabolism		Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
http://purl.obolibrary.org/obo/MONDO_0010029	situs inversus	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).
http://purl.obolibrary.org/obo/MONDO_0010030	Sjogren syndrome	http://purl.obolibrary.org/obo/MONDO_0024625	disorder of lacrimal gland		An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain
http://purl.obolibrary.org/obo/MONDO_0010031	Sjogren-Larsson syndrome	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
http://purl.obolibrary.org/obo/MONDO_0010035	Smith-Lemli-Opitz syndrome	http://purl.obolibrary.org/obo/MONDO_0045017	cholesterol biosynthetic process disease		Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
http://purl.obolibrary.org/obo/MONDO_0010036	congenital secretory sodium diarrhea 3	http://purl.obolibrary.org/obo/MONDO_0045032	congenital secretory diarrhea		Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.
http://purl.obolibrary.org/obo/MONDO_0010039	congenital heart defect-round face-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0010041	Charlevoix-Saguenay spastic ataxia	http://purl.obolibrary.org/obo/MONDO_0017847	autosomal recessive spastic ataxia		Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0010043	hereditary spastic paraplegia 17	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.
http://purl.obolibrary.org/obo/MONDO_0010044	hereditary spastic paraplegia 15	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
http://purl.obolibrary.org/obo/MONDO_0010046	hereditary spastic paraplegia 23	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
http://purl.obolibrary.org/obo/MONDO_0010047	hereditary spastic paraplegia 5A	http://purl.obolibrary.org/obo/MONDO_1060107	CYP7B1-related disorder of oxysterol accumulation		A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
http://purl.obolibrary.org/obo/MONDO_0010049	spastic paraplegia-glaucoma-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0010051	spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.
http://purl.obolibrary.org/obo/MONDO_0010052	spermatogenic failure 4	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.
http://purl.obolibrary.org/obo/MONDO_0010053	hereditary spherocytosis type 3	http://purl.obolibrary.org/obo/MONDO_0019350	hereditary spherocytosis		Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
http://purl.obolibrary.org/obo/MONDO_0010056	spinal muscular atrophy, type IV	http://purl.obolibrary.org/obo/MONDO_0019079	proximal spinal muscular atrophy		Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
http://purl.obolibrary.org/obo/MONDO_0010060	mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	http://purl.obolibrary.org/obo/MONDO_0100512	mitochondrial DNA depletion syndrome, hepatocerebral form		Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
http://purl.obolibrary.org/obo/MONDO_0010062	spinocerebellar ataxia-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0010063	corneal-cerebellar syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.
http://purl.obolibrary.org/obo/MONDO_0010064	spastic ataxia-corneal dystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.
http://purl.obolibrary.org/obo/MONDO_0010066	familial isolated congenital asplenia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
http://purl.obolibrary.org/obo/MONDO_0010068	spondyloepimetaphyseal dysplasia, sponastrime type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.
http://purl.obolibrary.org/obo/MONDO_0010069	spondylocostal dysostosis-anal and genitourinary malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0010072	spondyloepiphyseal dysplasia tarda, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Autosomal recessive form of spondyloepiphyseal dysplasia tarda.
http://purl.obolibrary.org/obo/MONDO_0010073	spondyloepiphyseal dysplasia tarda, Kohn type	http://purl.obolibrary.org/obo/MONDO_0019667	spondyloepiphyseal dysplasia tarda		Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0010076	spondyloepimetaphyseal dysplasia, Irapa type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
http://purl.obolibrary.org/obo/MONDO_0010077	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
http://purl.obolibrary.org/obo/MONDO_0010078	spondyloperipheral dysplasia	http://purl.obolibrary.org/obo/MONDO_0100602	COL2A1-related spondyloepiphyseal dysplasia		A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.
http://purl.obolibrary.org/obo/MONDO_0010079	Canavan disease	http://purl.obolibrary.org/obo/MONDO_0017686	inborn aminoacylase deficiency		A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
http://purl.obolibrary.org/obo/MONDO_0010083	succinic semialdehyde dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0000698	gamma-amino butyric acid metabolism disorder		Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
http://purl.obolibrary.org/obo/MONDO_0010087	Sugarman brachydactyly	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.
http://purl.obolibrary.org/obo/MONDO_0010088	mucosulfatidosis	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
http://purl.obolibrary.org/obo/MONDO_0010090	Summitt syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.
http://purl.obolibrary.org/obo/MONDO_0010094	spondylocarpotarsal synostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019690	filamin-related bone disorder		Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0010098	taurodontism	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome.
http://purl.obolibrary.org/obo/MONDO_0010099	Tay-Sachs disease AB variant	http://purl.obolibrary.org/obo/MONDO_0017720	GM2 gangliosidosis		GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
http://purl.obolibrary.org/obo/MONDO_0010100	Tay-Sachs disease	http://purl.obolibrary.org/obo/MONDO_0017720	GM2 gangliosidosis		GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.
http://purl.obolibrary.org/obo/MONDO_0010101	Teebi-Shaltout syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.
http://purl.obolibrary.org/obo/MONDO_0010102	taurodontia-absent teeth-sparse hair syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.
http://purl.obolibrary.org/obo/MONDO_0010108	testicular germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0021348	neoplasm of testis		A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.
http://purl.obolibrary.org/obo/MONDO_0010110	tetraamelia-multiple malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
http://purl.obolibrary.org/obo/MONDO_0010121	thrombocytopenia-absent radius syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
http://purl.obolibrary.org/obo/MONDO_0010125	upper limb defect-eye and ear abnormalities syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
http://purl.obolibrary.org/obo/MONDO_0010127	thymoma, familial	http://purl.obolibrary.org/obo/MONDO_0006456	thymoma		An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0010128	thyrocerebrorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0010129	thymic-renal-anal-lung dysplasia	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.
http://purl.obolibrary.org/obo/MONDO_0010130	dihydropyrimidine dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0018383	osteonecrosis of genetic origin		Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0010132	familial thyroid dyshormonogenesis	http://purl.obolibrary.org/obo/MONDO_0045046	inherited thyroid metabolism disease		A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
http://purl.obolibrary.org/obo/MONDO_0010133	thyroid dyshormonogenesis 2A	http://purl.obolibrary.org/obo/MONDO_0010132	familial thyroid dyshormonogenesis		Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.
http://purl.obolibrary.org/obo/MONDO_0010134	Pendred syndrome	http://purl.obolibrary.org/obo/MONDO_0018612	congenital hypothyroidism		Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
http://purl.obolibrary.org/obo/MONDO_0010135	thyroid dyshormonogenesis 3	http://purl.obolibrary.org/obo/MONDO_0010132	familial thyroid dyshormonogenesis		Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.
http://purl.obolibrary.org/obo/MONDO_0010136	thyroid dyshormonogenesis 4	http://purl.obolibrary.org/obo/MONDO_0010132	familial thyroid dyshormonogenesis		Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.
http://purl.obolibrary.org/obo/MONDO_0010137	thyroid dyshormonogenesis 5	http://purl.obolibrary.org/obo/MONDO_0010132	familial thyroid dyshormonogenesis		Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.
http://purl.obolibrary.org/obo/MONDO_0010138	thyrotoxicosis	http://purl.obolibrary.org/obo/MONDO_0004425	hyperthyroidism		A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.
http://purl.obolibrary.org/obo/MONDO_0010144	tibial hemimelia	http://purl.obolibrary.org/obo/MONDO_0016240	hemimelia		Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
http://purl.obolibrary.org/obo/MONDO_0010146	Kerion celsi	http://purl.obolibrary.org/obo/MONDO_0002967	dermatophytosis of scalp or beard		A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.
http://purl.obolibrary.org/obo/MONDO_0010148	Mounier-Kuhn syndrome	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.
http://purl.obolibrary.org/obo/MONDO_0010149	transcobalamin II deficiency	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	squamous cell carcinoma		A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.
http://purl.obolibrary.org/obo/MONDO_0010152	trichomegaly-retina pigmentary degeneration-dwarfism syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0010153	trichoodontoonychial dysplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.
http://purl.obolibrary.org/obo/MONDO_0010154	trigonocephaly-bifid nose-acral anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.
http://purl.obolibrary.org/obo/MONDO_0010156	Troyer syndrome	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.
http://purl.obolibrary.org/obo/MONDO_0010159	mismatch repair cancer syndrome 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.
http://purl.obolibrary.org/obo/MONDO_0010160	tyrosinemia type II	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0010161	tyrosinemia type I	http://purl.obolibrary.org/obo/MONDO_0004741	tyrosinemia		Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
http://purl.obolibrary.org/obo/MONDO_0010162	tyrosinemia type III	http://purl.obolibrary.org/obo/MONDO_0004741	tyrosinemia		Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
http://purl.obolibrary.org/obo/MONDO_0010164	phocomelia, Schinzel type	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
http://purl.obolibrary.org/obo/MONDO_0010165	ulna hypoplasia-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0019501	Usher syndrome		A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
http://purl.obolibrary.org/obo/MONDO_0010169	Usher syndrome type 2A	http://purl.obolibrary.org/obo/MONDO_0016484	Usher syndrome type 2		Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.
http://purl.obolibrary.org/obo/MONDO_0010170	Usher syndrome type 3A	http://purl.obolibrary.org/obo/MONDO_0016485	Usher syndrome type 3		Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.
http://purl.obolibrary.org/obo/MONDO_0010171	Usher syndrome type 1C	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0010174	Valinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.
http://purl.obolibrary.org/obo/MONDO_0010176	orofaciodigital syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
http://purl.obolibrary.org/obo/MONDO_0010177	vascular hyalinosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0010179	isolated right ventricular hypoplasia	http://purl.obolibrary.org/obo/MONDO_0020291	hypoplastic right heart syndrome		Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.
http://purl.obolibrary.org/obo/MONDO_0010183	methylmalonic aciduria and homocystinuria type cblF	http://purl.obolibrary.org/obo/MONDO_0016826	methylmalonic aciduria and homocystinuria		A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0010184	methylmalonic aciduria and homocystinuria type cblC	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0010185	methylmalonic aciduria and homocystinuria type cblD	http://purl.obolibrary.org/obo/MONDO_0100463	methylmalonic aciduria and/or homocystinuria, cblD type		A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.
http://purl.obolibrary.org/obo/MONDO_0010187	vitamin K-dependent clotting factors, combined deficiency of, type 1	http://purl.obolibrary.org/obo/MONDO_0015722	congenital vitamin K-dependent coagulation factors deficiency		Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.
http://purl.obolibrary.org/obo/MONDO_0010188	familial isolated deficiency of vitamin E	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
http://purl.obolibrary.org/obo/MONDO_0010191	von Willebrand disease 3	http://purl.obolibrary.org/obo/MONDO_0019565	hereditary von Willebrand disease		Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).
http://purl.obolibrary.org/obo/MONDO_0010192	Waardenburg syndrome type 4A	http://purl.obolibrary.org/obo/MONDO_0019518	Waardenburg-Shah syndrome		A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.
http://purl.obolibrary.org/obo/MONDO_0010193	Weaver syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
http://purl.obolibrary.org/obo/MONDO_0010196	Werner syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.
http://purl.obolibrary.org/obo/MONDO_0010198	Wernicke-Korsakoff syndrome	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.
http://purl.obolibrary.org/obo/MONDO_0010199	white forelock with malformations	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.
http://purl.obolibrary.org/obo/MONDO_0010200	Wilson disease	http://purl.obolibrary.org/obo/MONDO_0017762	disorder of copper metabolism		A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
http://purl.obolibrary.org/obo/MONDO_0010203	intellectual disability, Wolff type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.
http://purl.obolibrary.org/obo/MONDO_0010206	hypotrichosis 8	http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex		Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.
http://purl.obolibrary.org/obo/MONDO_0010208	wrinkly skin syndrome	http://purl.obolibrary.org/obo/MONDO_0018163	autosomal recessive cutis laxa type 2A		A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).
http://purl.obolibrary.org/obo/MONDO_0010210	xeroderma pigmentosum group A	http://purl.obolibrary.org/obo/MONDO_0019600	xeroderma pigmentosum		Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.
http://purl.obolibrary.org/obo/MONDO_0010211	xeroderma pigmentosum group C	http://purl.obolibrary.org/obo/MONDO_0019600	xeroderma pigmentosum		An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.
http://purl.obolibrary.org/obo/MONDO_0010212	xeroderma pigmentosum group D	http://purl.obolibrary.org/obo/MONDO_0016354	xeroderma pigmentosum-Cockayne syndrome complex		Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.
http://purl.obolibrary.org/obo/MONDO_0010213	xeroderma pigmentosum group E	http://purl.obolibrary.org/obo/MONDO_0019600	xeroderma pigmentosum		An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.
http://purl.obolibrary.org/obo/MONDO_0010214	xeroderma pigmentosum variant type	http://purl.obolibrary.org/obo/MONDO_0019600	xeroderma pigmentosum		Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.
http://purl.obolibrary.org/obo/MONDO_0010215	xeroderma pigmentosum group F	http://purl.obolibrary.org/obo/MONDO_0016354	xeroderma pigmentosum-Cockayne syndrome complex		Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.
http://purl.obolibrary.org/obo/MONDO_0010216	xeroderma pigmentosum group G	http://purl.obolibrary.org/obo/MONDO_0016354	xeroderma pigmentosum-Cockayne syndrome complex		Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.
http://purl.obolibrary.org/obo/MONDO_0010217	de Sanctis-Cacchione syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
http://purl.obolibrary.org/obo/MONDO_0010220	Young syndrome	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections.
http://purl.obolibrary.org/obo/MONDO_0010221	CHIME syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0010224	corpus callosum agenesis-abnormal genitalia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.
http://purl.obolibrary.org/obo/MONDO_0010227	retinitis pigmentosa 3	http://purl.obolibrary.org/obo/MONDO_0100437	RPGR-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.
http://purl.obolibrary.org/obo/MONDO_0010229	alopecia, congenital	http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated		A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.
http://purl.obolibrary.org/obo/MONDO_0010232	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.
http://purl.obolibrary.org/obo/MONDO_0010237	X-linked intellectual disability-plagiocephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0010238	hearing loss, X-linked 4	http://purl.obolibrary.org/obo/MONDO_0019586	X-linked nonsyndromic hearing loss		Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.
http://purl.obolibrary.org/obo/MONDO_0010241	congenital stationary night blindness 2A	http://purl.obolibrary.org/obo/MONDO_0044749	X-linked congenital stationary night blindness		Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.
http://purl.obolibrary.org/obo/MONDO_0010243	X-linked immunoneurologic disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.
http://purl.obolibrary.org/obo/MONDO_0010246	developmental and epileptic encephalopathy, 9	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
http://purl.obolibrary.org/obo/MONDO_0010248	X-linked spondyloepimetaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		X-linked form of spondyloepimetaphyseal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0010258	MEHMO syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.
http://purl.obolibrary.org/obo/MONDO_0010259	retinitis pigmentosa 24	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.
http://purl.obolibrary.org/obo/MONDO_0010264	X-linked adrenal hypoplasia congenita	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.
http://purl.obolibrary.org/obo/MONDO_0010265	Simpson-Golabi-Behmel syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0010731	Simpson-Golabi-Behmel syndrome		Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.
http://purl.obolibrary.org/obo/MONDO_0010266	intellectual disability, X-linked 58	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.
http://purl.obolibrary.org/obo/MONDO_0010268	X-linked lissencephaly with abnormal genitalia	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0010269	Coats disease	http://purl.obolibrary.org/obo/MONDO_0020247	congenital vitreoretinal dysplasia		Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
http://purl.obolibrary.org/obo/MONDO_0010270	syndromic X-linked intellectual disability 7	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.
http://purl.obolibrary.org/obo/MONDO_0010271	X-linked myotubular myopathy-abnormal genitalia syndrome	http://purl.obolibrary.org/obo/MONDO_0017007	partial deletion of the long arm of chromosome X		X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.
http://purl.obolibrary.org/obo/MONDO_0010275	spondyloepimetaphyseal dysplasia, Bieganski type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.
http://purl.obolibrary.org/obo/MONDO_0010277	syndromic X-linked intellectual disability Shashi type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.
http://purl.obolibrary.org/obo/MONDO_0010278	Christianson syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.
http://purl.obolibrary.org/obo/MONDO_0010279	terminal osseous dysplasia-pigmentary defects syndrome	http://purl.obolibrary.org/obo/MONDO_0019690	filamin-related bone disorder		A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
http://purl.obolibrary.org/obo/MONDO_0010281	Danon disease	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0010283	syndromic X-linked intellectual disability Lubs type	http://purl.obolibrary.org/obo/MONDO_0017010	partial duplication of the long arm of chromosome X		Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
http://purl.obolibrary.org/obo/MONDO_0010284	Armfield syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.
http://purl.obolibrary.org/obo/MONDO_0010285	syndromic X-linked intellectual disability Abidi type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.
http://purl.obolibrary.org/obo/MONDO_0010287	hereditary spastic paraplegia 16	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.
http://purl.obolibrary.org/obo/MONDO_0010288	adrenomyodystrophy	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.
http://purl.obolibrary.org/obo/MONDO_0010294	X-linked severe congenital neutropenia	http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia		This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.
http://purl.obolibrary.org/obo/MONDO_0010297	FG syndrome 2	http://purl.obolibrary.org/obo/MONDO_0002010	FG syndrome		Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.
http://purl.obolibrary.org/obo/MONDO_0010298	Lesch-Nyhan syndrome	http://purl.obolibrary.org/obo/MONDO_0016088	hypoxanthine-guanine phosphoribosyltransferase deficiency		Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
http://purl.obolibrary.org/obo/MONDO_0010299	hypoxanthine guanine phosphoribosyltransferase partial deficiency	http://purl.obolibrary.org/obo/MONDO_0016088	hypoxanthine-guanine phosphoribosyltransferase deficiency		Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
http://purl.obolibrary.org/obo/MONDO_0010305	creatine transporter deficiency	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
http://purl.obolibrary.org/obo/MONDO_0010306	X-linked intellectual disability, Cabezas type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.
http://purl.obolibrary.org/obo/MONDO_0010310	osteopathia striata with cranial sclerosis	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
http://purl.obolibrary.org/obo/MONDO_0010311	Becker muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0700285	DMD-related muscular dystrophy		Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
http://purl.obolibrary.org/obo/MONDO_0010313	intellectual disability, X-linked 63	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.
http://purl.obolibrary.org/obo/MONDO_0010315	T-B+ severe combined immunodeficiency due to gamma chain deficiency	http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency		Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
http://purl.obolibrary.org/obo/MONDO_0010319	syndromic X-linked intellectual disability Hedera type	http://purl.obolibrary.org/obo/MONDO_0100146	ATP6AP2-related disorder		X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
http://purl.obolibrary.org/obo/MONDO_0010320	retinitis pigmentosa 23	http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.
http://purl.obolibrary.org/obo/MONDO_0010327	HSD10 mitochondrial disease	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0010328	alpha-thalassemia-myelodysplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
http://purl.obolibrary.org/obo/MONDO_0010332	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.
http://purl.obolibrary.org/obo/MONDO_0010333	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
http://purl.obolibrary.org/obo/MONDO_0010334	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	http://purl.obolibrary.org/obo/MONDO_0000761	syndrome caused by partial chromosomal deletion		Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).
http://purl.obolibrary.org/obo/MONDO_0010336	orofaciodigital syndrome VIII	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0010337	X-linked intellectual disability-cerebellar hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
http://purl.obolibrary.org/obo/MONDO_0010338	X-linked distal spinal muscular atrophy type 3	http://purl.obolibrary.org/obo/MONDO_0018894	distal hereditary motor neuropathy		X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
http://purl.obolibrary.org/obo/MONDO_0010339	epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	http://purl.obolibrary.org/obo/MONDO_0859390	epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features		An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
http://purl.obolibrary.org/obo/MONDO_0010341	autism, susceptibility to, X-linked 2	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).
http://purl.obolibrary.org/obo/MONDO_0010349	ovarian dysgenesis 2	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.
http://purl.obolibrary.org/obo/MONDO_0010350	premature ovarian failure 2A	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.
http://purl.obolibrary.org/obo/MONDO_0010351	Fanconi anemia complementation group B	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
http://purl.obolibrary.org/obo/MONDO_0010353	deafness-intellectual disability, Martin-Probst type syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome.
http://purl.obolibrary.org/obo/MONDO_0010354	Allan-Herndon-Dudley syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
http://purl.obolibrary.org/obo/MONDO_0010356	nephrogenic syndrome of inappropriate antidiuresis	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.
http://purl.obolibrary.org/obo/MONDO_0010362	glycogen storage disease IXd	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.
http://purl.obolibrary.org/obo/MONDO_0010371	Aland island eye disease	http://purl.obolibrary.org/obo/MONDO_0700243	CACNA1F-related retinopathy		An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
http://purl.obolibrary.org/obo/MONDO_0010373	premature ovarian failure 2B	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.
http://purl.obolibrary.org/obo/MONDO_0010374	retinitis pigmentosa 34	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.
http://purl.obolibrary.org/obo/MONDO_0010378	X-linked hereditary sensory and autonomic neuropathy with hearing loss	http://purl.obolibrary.org/obo/MONDO_0021944	auditory neuropathy		This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
http://purl.obolibrary.org/obo/MONDO_0010379	Brunner syndrome	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.
http://purl.obolibrary.org/obo/MONDO_0010382	fragile X-associated tremor/ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
http://purl.obolibrary.org/obo/MONDO_0010383	fragile X syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
http://purl.obolibrary.org/obo/MONDO_0010385	X-linked lymphoproliferative disease due to XIAP deficiency	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.
http://purl.obolibrary.org/obo/MONDO_0010386	immunodeficiency 33	http://purl.obolibrary.org/obo/MONDO_0100162	IKBKG-related immunodeficiency with or without ectodermal dysplasia		Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.
http://purl.obolibrary.org/obo/MONDO_0010389	X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	http://purl.obolibrary.org/obo/MONDO_0017905	X-linked Mendelian susceptibility to mycobacterial diseases		Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.
http://purl.obolibrary.org/obo/MONDO_0010392	glycogen storage disease due to phosphoglycerate kinase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis		Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
http://purl.obolibrary.org/obo/MONDO_0010393	intellectual disability, X-linked 93	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.
http://purl.obolibrary.org/obo/MONDO_0010395	phosphoribosylpyrophosphate synthetase superactivity	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).
http://purl.obolibrary.org/obo/MONDO_0010396	developmental and epileptic encephalopathy, 2	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.
http://purl.obolibrary.org/obo/MONDO_0010397	severe neonatal-onset encephalopathy with microcephaly	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.
http://purl.obolibrary.org/obo/MONDO_0010398	syndromic X-linked intellectual disability 14	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.
http://purl.obolibrary.org/obo/MONDO_0010402	syndromic X-linked intellectual disability 94	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.
http://purl.obolibrary.org/obo/MONDO_0010403	albinism-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
http://purl.obolibrary.org/obo/MONDO_0010404	X-linked non progressive cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0016612	X-linked cerebellar ataxia		X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
http://purl.obolibrary.org/obo/MONDO_0010407	intellectual disability, X-linked syndromic, Turner type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.
http://purl.obolibrary.org/obo/MONDO_0010408	syndactyly-telecanthus-anogenital and renal malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
http://purl.obolibrary.org/obo/MONDO_0010409	syndromic X-linked intellectual disability Shrimpton type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.
http://purl.obolibrary.org/obo/MONDO_0010412	X-linked intellectual disability-craniofacioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
http://purl.obolibrary.org/obo/MONDO_0010417	syndromic X-linked intellectual disability Najm type	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
http://purl.obolibrary.org/obo/MONDO_0010418	hereditary spastic paraplegia 34	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.
http://purl.obolibrary.org/obo/MONDO_0010420	X-linked erythropoietic protoporphyria	http://purl.obolibrary.org/obo/MONDO_0001676	erythropoietic protoporphyria		An erythropoietic protoporphyria in which the cause of the disease is a hemizygous, heterozygous, or homozygous (rare) gain-of-function (GOF) variant (X-linked inheritance pattern) in the terminal regulatory exon of ALAS2. GOF variants increase ALAS2 activity resulting in pathway upregulation and high levels of protoporphyrin IX (PPIX). Males with hemizygous variants frequently present in early childhood with severe cutaneous photosensitivity and laboratory markers of liver disease. Heterozygous females can present with symptoms ranging from as severe as affected males to asymptomatic due to random X-chromosome inactivation. This disease is clinically indistinguishable from FECH-related erythropoietic protoporphyria.
http://purl.obolibrary.org/obo/MONDO_0010421	Bruton-type agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0016462	isolated agammaglobulinemia		X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.
http://purl.obolibrary.org/obo/MONDO_0010422	Alzheimer disease 16	http://purl.obolibrary.org/obo/MONDO_0004975	Alzheimer disease		An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.
http://purl.obolibrary.org/obo/MONDO_0010425	Lisch epithelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.
http://purl.obolibrary.org/obo/MONDO_0010426	X-linked endothelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020214	posterior corneal dystrophy		X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
http://purl.obolibrary.org/obo/MONDO_0010427	syndromic X-linked intellectual disability Raymond type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.
http://purl.obolibrary.org/obo/MONDO_0010428	chromosome Xp11.23-p11.22 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0017009	partial duplication of the short arm of chromosome X		A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
http://purl.obolibrary.org/obo/MONDO_0010430	intellectual disability, X-linked 97	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.
http://purl.obolibrary.org/obo/MONDO_0010431	Joubert syndrome 10	http://purl.obolibrary.org/obo/MONDO_1040039	OFD1-related ciliopathy		Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.
http://purl.obolibrary.org/obo/MONDO_0010432	thrombophilia, X-linked, due to factor 9 defect	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).
http://purl.obolibrary.org/obo/MONDO_0010434	synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).
http://purl.obolibrary.org/obo/MONDO_0010446	X-linked cone dysfunction syndrome with myopia	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.
http://purl.obolibrary.org/obo/MONDO_0010447	intellectual disability, X-linked 19	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.
http://purl.obolibrary.org/obo/MONDO_0010457	Ogden syndrome	http://purl.obolibrary.org/obo/MONDO_0100124	NAA10-related syndrome		Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
http://purl.obolibrary.org/obo/MONDO_0010459	amyotrophic lateral sclerosis type 15	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.
http://purl.obolibrary.org/obo/MONDO_0010460	syndromic X-linked intellectual disability 17	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.
http://purl.obolibrary.org/obo/MONDO_0010461	syndromic X-linked intellectual disability Nascimento type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.
http://purl.obolibrary.org/obo/MONDO_0010462	syndromic X-linked intellectual disability Chudley-Schwartz type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.
http://purl.obolibrary.org/obo/MONDO_0010466	multiple congenital anomalies-hypotonia-seizures syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
http://purl.obolibrary.org/obo/MONDO_0010473	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.
http://purl.obolibrary.org/obo/MONDO_0010476	neurodegeneration with brain iron accumulation 5	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
http://purl.obolibrary.org/obo/MONDO_0010478	SLC35A2-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).
http://purl.obolibrary.org/obo/MONDO_0010479	Charcot-Marie-Tooth disease X-linked dominant 6	http://purl.obolibrary.org/obo/MONDO_0018994	Charcot-Marie-Tooth disease type X		X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).
http://purl.obolibrary.org/obo/MONDO_0010480	anemia, nonspherocytic hemolytic, due to G6PD deficiency	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
http://purl.obolibrary.org/obo/MONDO_0010481	angioedema	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.
http://purl.obolibrary.org/obo/MONDO_0010499	Ritscher-Schinzel syndrome 2	http://purl.obolibrary.org/obo/MONDO_0019078	Ritscher-Schinzel syndrome		Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.
http://purl.obolibrary.org/obo/MONDO_0010501	syndromic X-linked intellectual disability 34	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.
http://purl.obolibrary.org/obo/MONDO_0010503	Bartter disease type 5	http://purl.obolibrary.org/obo/MONDO_0015231	Bartter syndrome		Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.
http://purl.obolibrary.org/obo/MONDO_0010518	Wiskott-Aldrich syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
http://purl.obolibrary.org/obo/MONDO_0010519	alpha thalassemia-X-linked intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0016980	ATR-X-related syndrome		X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.
http://purl.obolibrary.org/obo/MONDO_0010520	X-linked Alport syndrome	http://purl.obolibrary.org/obo/MONDO_0018965	Alport syndrome		X-linked form of Alport syndrome.
http://purl.obolibrary.org/obo/MONDO_0010521	amelogenesis imperfecta type 1E	http://purl.obolibrary.org/obo/MONDO_0015048	amelogenesis imperfecta type 2		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.
http://purl.obolibrary.org/obo/MONDO_0010522	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	http://purl.obolibrary.org/obo/MONDO_0019507	amelogenesis imperfecta		An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
http://purl.obolibrary.org/obo/MONDO_0010523	X-linked reticulate pigmentary disorder	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.
http://purl.obolibrary.org/obo/MONDO_0010524	X-linked sideroblastic anemia with ataxia	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
http://purl.obolibrary.org/obo/MONDO_0010526	Fabry disease	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
http://purl.obolibrary.org/obo/MONDO_0010528	anosmia	http://purl.obolibrary.org/obo/MONDO_0002436	nasal disorder		Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.
http://purl.obolibrary.org/obo/MONDO_0010529	X-linked spinocerebellar ataxia type 3	http://purl.obolibrary.org/obo/MONDO_0016612	X-linked cerebellar ataxia		A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.
http://purl.obolibrary.org/obo/MONDO_0010532	infantile-onset X-linked spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0010533	Arts syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
http://purl.obolibrary.org/obo/MONDO_0010534	X-linked spinocerebellar ataxia type 4	http://purl.obolibrary.org/obo/MONDO_0016612	X-linked cerebellar ataxia		Spinocerebellar ataxia, X-linked, type 4 is characterized by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.
http://purl.obolibrary.org/obo/MONDO_0010537	Borjeson-Forssman-Lehmann syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
http://purl.obolibrary.org/obo/MONDO_0010538	Mononen-Karnes-Senac syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.
http://purl.obolibrary.org/obo/MONDO_0010539	X-linked mandibulofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
http://purl.obolibrary.org/obo/MONDO_0010540	bullous dystrophy, macular type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.
http://purl.obolibrary.org/obo/MONDO_0010542	dilated cardiomyopathy 3B	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.
http://purl.obolibrary.org/obo/MONDO_0010543	Barth syndrome	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
http://purl.obolibrary.org/obo/MONDO_0010544	cataract 40	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.
http://purl.obolibrary.org/obo/MONDO_0010545	Nance-Horan syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0010549	Charcot-Marie-Tooth disease X-linked dominant 1	http://purl.obolibrary.org/obo/MONDO_0018994	Charcot-Marie-Tooth disease type X		Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.
http://purl.obolibrary.org/obo/MONDO_0010550	Charcot-Marie-Tooth disease X-linked recessive 2	http://purl.obolibrary.org/obo/MONDO_0018994	Charcot-Marie-Tooth disease type X		X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
http://purl.obolibrary.org/obo/MONDO_0010551	Charcot-Marie-Tooth disease X-linked recessive 3	http://purl.obolibrary.org/obo/MONDO_0018994	Charcot-Marie-Tooth disease type X		X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
http://purl.obolibrary.org/obo/MONDO_0010554	Abruzzo-Erickson syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
http://purl.obolibrary.org/obo/MONDO_0010556	X-linked chondrodysplasia punctata	http://purl.obolibrary.org/obo/MONDO_0015775	non-rhizomelic chondrodysplasia punctata		X-linked form of chondrodysplasia punctata.
http://purl.obolibrary.org/obo/MONDO_0010557	choroideremia	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.
http://purl.obolibrary.org/obo/MONDO_0010558	choroideremia-deafness-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
http://purl.obolibrary.org/obo/MONDO_0010559	MASA syndrome	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
http://purl.obolibrary.org/obo/MONDO_0010561	Coffin-Lowry syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
http://purl.obolibrary.org/obo/MONDO_0010562	colonic atresia	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.
http://purl.obolibrary.org/obo/MONDO_0010563	blue cone monochromacy	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.
http://purl.obolibrary.org/obo/MONDO_0010564	red-green color blindness	http://purl.obolibrary.org/obo/MONDO_0000014	colorblindness, partial		Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.
http://purl.obolibrary.org/obo/MONDO_0010565	red color blindness	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.
http://purl.obolibrary.org/obo/MONDO_0010568	Aicardi syndrome	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.
http://purl.obolibrary.org/obo/MONDO_0010569	X-linked complicated corpus callosum dysgenesis	http://purl.obolibrary.org/obo/MONDO_0017140	L1 syndrome		X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0010570	craniofrontonasal syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.
http://purl.obolibrary.org/obo/MONDO_0010571	otopalatodigital syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0019027	otopalatodigital syndrome		A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
http://purl.obolibrary.org/obo/MONDO_0010572	occipital horn syndrome	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.
http://purl.obolibrary.org/obo/MONDO_0010574	syndromic X-linked intellectual disability 5	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.
http://purl.obolibrary.org/obo/MONDO_0010575	deafness-hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.
http://purl.obolibrary.org/obo/MONDO_0010576	X-linked mixed hearing loss with perilymphatic gusher	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.
http://purl.obolibrary.org/obo/MONDO_0010578	deafness dystonia syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.
http://purl.obolibrary.org/obo/MONDO_0010580	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	http://purl.obolibrary.org/obo/MONDO_0019787	autoimmune enteropathy		Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.
http://purl.obolibrary.org/obo/MONDO_0010586	X-linked Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.
http://purl.obolibrary.org/obo/MONDO_0010587	epidermodysplasia verruciformis, X-linked	http://purl.obolibrary.org/obo/MONDO_0009176	epidermodysplasia verruciformis		X-linked form of epidermodysplasia verruciformis.
http://purl.obolibrary.org/obo/MONDO_0010588	exudative vitreoretinopathy 2, X-linked	http://purl.obolibrary.org/obo/MONDO_0700377	NDP-related vitreoretinopathy		Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.
http://purl.obolibrary.org/obo/MONDO_0010591	fingerprint body myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.
http://purl.obolibrary.org/obo/MONDO_0010592	focal dermal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
http://purl.obolibrary.org/obo/MONDO_0010598	glycogen storage disease IXa1	http://purl.obolibrary.org/obo/MONDO_0700291	glycogen storage disease IX		Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
http://purl.obolibrary.org/obo/MONDO_0010604	hemophilia B	http://purl.obolibrary.org/obo/MONDO_0018660	hemophilia		Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.
http://purl.obolibrary.org/obo/MONDO_0010607	heterotaxy, visceral, 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.
http://purl.obolibrary.org/obo/MONDO_0010610	holoprosencephaly-hypokinesia-congenital contractures syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0010612	hydrocephaly-cerebellar agenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.
http://purl.obolibrary.org/obo/MONDO_0010613	inborn glycerol kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.
http://purl.obolibrary.org/obo/MONDO_0010614	X-linked congenital generalized hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0016381	hypertrichosis lanuginosa congenita		X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
http://purl.obolibrary.org/obo/MONDO_0010618	familial isolated hypoparathyroidism due to agenesis of parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0007796	hypoparathyroidism, familial isolated 1		Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).
http://purl.obolibrary.org/obo/MONDO_0010619	X-linked dominant hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0020604	X-linked dominant disease		X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.
http://purl.obolibrary.org/obo/MONDO_0010621	CHILD syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
http://purl.obolibrary.org/obo/MONDO_0010622	recessive X-linked ichthyosis	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
http://purl.obolibrary.org/obo/MONDO_0010627	X-linked lymphoproliferative syndrome	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).
http://purl.obolibrary.org/obo/MONDO_0010631	incontinentia pigmenti	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).
http://purl.obolibrary.org/obo/MONDO_0010635	hypogonadotropic hypogonadism 1 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.
http://purl.obolibrary.org/obo/MONDO_0010638	keratosis follicularis-dwarfism-cerebral atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.
http://purl.obolibrary.org/obo/MONDO_0010641	X-linked diffuse leiomyomatosis-Alport syndrome	http://purl.obolibrary.org/obo/MONDO_0017007	partial deletion of the long arm of chromosome X		A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
http://purl.obolibrary.org/obo/MONDO_0010643	acute leukemia	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).
http://purl.obolibrary.org/obo/MONDO_0010645	oculocerebrorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
http://purl.obolibrary.org/obo/MONDO_0010650	Melnick-Needles syndrome	http://purl.obolibrary.org/obo/MONDO_0018233	otopalatodigital syndrome spectrum disorder		A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
http://purl.obolibrary.org/obo/MONDO_0010651	Menkes disease	http://purl.obolibrary.org/obo/MONDO_0017762	disorder of copper metabolism		A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
http://purl.obolibrary.org/obo/MONDO_0010652	X-linked intellectual disability-seizures-psoriasis syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.
http://purl.obolibrary.org/obo/MONDO_0010653	Renpenning syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
http://purl.obolibrary.org/obo/MONDO_0010654	Partington syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0010655	X-linked intellectual disability with marfanoid habitus	http://purl.obolibrary.org/obo/MONDO_0100000	MED12-related intellectual disability syndrome		The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
http://purl.obolibrary.org/obo/MONDO_0010656	intellectual disability, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.
http://purl.obolibrary.org/obo/MONDO_0010658	syndromic X-linked intellectual disability 12	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome.
http://purl.obolibrary.org/obo/MONDO_0010660	intellectual disability, X-linked 9	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.
http://purl.obolibrary.org/obo/MONDO_0010661	severe X-linked intellectual disability, Gustavson type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.
http://purl.obolibrary.org/obo/MONDO_0010662	paraplegia-intellectual disability-hyperkeratosis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.
http://purl.obolibrary.org/obo/MONDO_0010664	syndromic X-linked intellectual disability Snyder type	http://purl.obolibrary.org/obo/MONDO_0800159	disorder of polyamine metabolism		Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.
http://purl.obolibrary.org/obo/MONDO_0010665	Wilson-Turner syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
http://purl.obolibrary.org/obo/MONDO_0010667	Prieto syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.
http://purl.obolibrary.org/obo/MONDO_0010668	skeletal dysplasia-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.
http://purl.obolibrary.org/obo/MONDO_0010672	linear skin defects with multiple congenital anomalies	http://purl.obolibrary.org/obo/MONDO_0019294	mixed dermis disorder		A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.
http://purl.obolibrary.org/obo/MONDO_0010674	mucopolysaccharidosis type 2	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
http://purl.obolibrary.org/obo/MONDO_0010679	Duchenne muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0700285	DMD-related muscular dystrophy		Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
http://purl.obolibrary.org/obo/MONDO_0010684	X-linked myopathy with excessive autophagy	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.
http://purl.obolibrary.org/obo/MONDO_0010686	N syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity.
http://purl.obolibrary.org/obo/MONDO_0010688	hereditary sensory neuropathy X-linked	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.
http://purl.obolibrary.org/obo/MONDO_0010689	Charcot-Marie-Tooth disease X-linked recessive 4	http://purl.obolibrary.org/obo/MONDO_0018994	Charcot-Marie-Tooth disease type X		X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
http://purl.obolibrary.org/obo/MONDO_0010690	congenital stationary night blindness 1A	http://purl.obolibrary.org/obo/MONDO_0044749	X-linked congenital stationary night blindness		A congenital stationary night blindness caused by variants in the X-linked NYX gene.
http://purl.obolibrary.org/obo/MONDO_0010691	Norrie disease	http://purl.obolibrary.org/obo/MONDO_0700377	NDP-related vitreoretinopathy		A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
http://purl.obolibrary.org/obo/MONDO_0010693	nystagmus 1, congenital, X-linked	http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus		Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.
http://purl.obolibrary.org/obo/MONDO_0010698	optic atrophy 2	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
http://purl.obolibrary.org/obo/MONDO_0010699	Charcot-Marie-Tooth disease X-linked recessive 5	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.
http://purl.obolibrary.org/obo/MONDO_0010702	orofaciodigital syndrome I	http://purl.obolibrary.org/obo/MONDO_1040039	OFD1-related ciliopathy		A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.
http://purl.obolibrary.org/obo/MONDO_0010703	ornithine carbamoyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
http://purl.obolibrary.org/obo/MONDO_0010708	Pallister-W syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.
http://purl.obolibrary.org/obo/MONDO_0010709	early-onset parkinsonism-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.
http://purl.obolibrary.org/obo/MONDO_0010711	TARP syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
http://purl.obolibrary.org/obo/MONDO_0010714	Pelizaeus-Merzbacher spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
http://purl.obolibrary.org/obo/MONDO_0010716	X-linked lethal multiple pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0009668	lethal multiple pterygium syndrome		X-linked form of lethal multiple pterygium syndrome.
http://purl.obolibrary.org/obo/MONDO_0010718	absent radius-anogenital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.
http://purl.obolibrary.org/obo/MONDO_0010720	partial androgen insensitivity syndrome	http://purl.obolibrary.org/obo/MONDO_0019154	androgen insensitivity syndrome		Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.
http://purl.obolibrary.org/obo/MONDO_0010723	retinitis pigmentosa 2	http://purl.obolibrary.org/obo/MONDO_0100442	RP2-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.
http://purl.obolibrary.org/obo/MONDO_0010725	X-linked retinoschisis	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
http://purl.obolibrary.org/obo/MONDO_0010726	Rett syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A severe neurodevelopmental disorder affecting the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0010728	SCARF syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
http://purl.obolibrary.org/obo/MONDO_0010729	X-linked intellectual disability, Schimke type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.
http://purl.obolibrary.org/obo/MONDO_0010731	Simpson-Golabi-Behmel syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
http://purl.obolibrary.org/obo/MONDO_0010732	spastic paraparesis-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.
http://purl.obolibrary.org/obo/MONDO_0010733	hereditary spastic paraplegia 2	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.
http://purl.obolibrary.org/obo/MONDO_0010735	Kennedy disease	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.
http://purl.obolibrary.org/obo/MONDO_0010736	split hand-foot malformation 2	http://purl.obolibrary.org/obo/MONDO_0016576	split hand-foot malformation		A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.
http://purl.obolibrary.org/obo/MONDO_0010737	spondyloepiphyseal dysplasia tarda, X-linked	http://purl.obolibrary.org/obo/MONDO_0000425	X-linked disease		X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.
http://purl.obolibrary.org/obo/MONDO_0010738	spondylometaphyseal dysplasia, Golden type	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.
http://purl.obolibrary.org/obo/MONDO_0010741	tooth agenesis, selective, X-linked, 1	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.
http://purl.obolibrary.org/obo/MONDO_0010742	pentalogy of Cantrell	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.
http://purl.obolibrary.org/obo/MONDO_0010745	beta-thalassemia-X-linked thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0017145	beta-thalassemia and related diseases		Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.
http://purl.obolibrary.org/obo/MONDO_0010747	X-linked dystonia-parkinsonism	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.
http://purl.obolibrary.org/obo/MONDO_0010748	torticollis-keloids-cryptorchidism-renal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.
http://purl.obolibrary.org/obo/MONDO_0010749	trigonocephaly-short stature-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.
http://purl.obolibrary.org/obo/MONDO_0010750	ulnar hypoplasia-split foot syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
http://purl.obolibrary.org/obo/MONDO_0010754	van den Bosch syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.
http://purl.obolibrary.org/obo/MONDO_0010758	Wieacker-Wolff syndrome	http://purl.obolibrary.org/obo/MONDO_0025445	Wieacker-Wolff syndrome (spectrum)		A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0010759	Wildervanck syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.
http://purl.obolibrary.org/obo/MONDO_0010761	retinitis pigmentosa Y-linked	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Y-linked form of retinitis pigmentosa.
http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
http://purl.obolibrary.org/obo/MONDO_0010768	gonadoblastoma	http://purl.obolibrary.org/obo/MONDO_0006055	sex cord-stromal tumor		A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.
http://purl.obolibrary.org/obo/MONDO_0010771	histiocytoid cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004069	inborn mitochondrial metabolism disorder		Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.
http://purl.obolibrary.org/obo/MONDO_0010775	retinitis pigmentosa-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0019501	Usher syndrome		An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.
http://purl.obolibrary.org/obo/MONDO_0010778	cyclic vomiting syndrome	http://purl.obolibrary.org/obo/MONDO_0100070	neuroendocrine disorder		A rare functional disorder characterized by recurrent, stereotypical episodes of severe nausea and vomiting separated by symptom-free intervals. Episodes are often accompanied by pallor, lethargy, and abdominal pain. The condition shows a strong association with migraine headaches and may have maternal inheritance patterns suggestive of mitochondrial involvement.
http://purl.obolibrary.org/obo/MONDO_0010785	maternally-inherited diabetes and deafness	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.
http://purl.obolibrary.org/obo/MONDO_0010786	chronic diarrhea with villous atrophy	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.
http://purl.obolibrary.org/obo/MONDO_0010787	Kearns-Sayre syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
http://purl.obolibrary.org/obo/MONDO_0010788	Leber hereditary optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome	http://purl.obolibrary.org/obo/MONDO_0004675	mitochondrial encephalomyopathy		MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
http://purl.obolibrary.org/obo/MONDO_0010790	MERRF syndrome	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.
http://purl.obolibrary.org/obo/MONDO_0010791	myoglobinuria, recurrent	http://purl.obolibrary.org/obo/MONDO_0020504	hereditary recurrent myoglobinuria		An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.
http://purl.obolibrary.org/obo/MONDO_0010792	lethal infantile mitochondrial myopathy	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.
http://purl.obolibrary.org/obo/MONDO_0010794	NARP syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
http://purl.obolibrary.org/obo/MONDO_0010797	Pearson syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.
http://purl.obolibrary.org/obo/MONDO_0010801	spondylocamptodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019694	spondylodysplastic dysplasia		Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.
http://purl.obolibrary.org/obo/MONDO_0010803	Eiken syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.
http://purl.obolibrary.org/obo/MONDO_0010805	bladder exstrophy	http://purl.obolibrary.org/obo/MONDO_0017919	exstrophy-epispadias complex		Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.
http://purl.obolibrary.org/obo/MONDO_0010806	retinitis pigmentosa 13	http://purl.obolibrary.org/obo/MONDO_0700234	PRPF8-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.
http://purl.obolibrary.org/obo/MONDO_0010807	autosomal recessive nonsyndromic hearing loss 2	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.
http://purl.obolibrary.org/obo/MONDO_0010808	fatal familial insomnia	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.
http://purl.obolibrary.org/obo/MONDO_0010809	familial chronic myelocytic leukemia-like syndrome	http://purl.obolibrary.org/obo/MONDO_0011996	chronic myeloid leukemia		A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).
http://purl.obolibrary.org/obo/MONDO_0010810	vitamin D hydroxylation-deficient rickets, type 1B	http://purl.obolibrary.org/obo/MONDO_0045012	steroid metabolism disease		An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.
http://purl.obolibrary.org/obo/MONDO_0010811	benign prostatic hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.
http://purl.obolibrary.org/obo/MONDO_0010814	chondrodysplasia-pseudohermaphroditism syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0010816	Qazi Markouizos syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.
http://purl.obolibrary.org/obo/MONDO_0010817	autosomal dominant nonsyndromic hearing loss 2A	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.
http://purl.obolibrary.org/obo/MONDO_0010818	retinitis pigmentosa 12	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.
http://purl.obolibrary.org/obo/MONDO_0010820	autosomal recessive juvenile Parkinson disease 2	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see Parkinson disease), secondary parkinsonism (see Parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.
http://purl.obolibrary.org/obo/MONDO_0010821	familial developmental dysphasia	http://purl.obolibrary.org/obo/MONDO_0016226	specific language disorder		Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.
http://purl.obolibrary.org/obo/MONDO_0010822	Warburg micro syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016649	Warburg micro syndrome		Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.
http://purl.obolibrary.org/obo/MONDO_0010823	rhizomelic chondrodysplasia punctata type 3	http://purl.obolibrary.org/obo/MONDO_0100274	alkylglycerone-phosphate synthase deficiency		Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.
http://purl.obolibrary.org/obo/MONDO_0010825	atrioventricular defect-blepharophimosis-radial and anal defect syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
http://purl.obolibrary.org/obo/MONDO_0010826	childhood absence epilepsy	http://purl.obolibrary.org/obo/MONDO_0800499	childhood-onset idiopathic generalized epilepsy syndrome		A familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.
http://purl.obolibrary.org/obo/MONDO_0010827	retinitis pigmentosa 14	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.
http://purl.obolibrary.org/obo/MONDO_0010828	retinitis pigmentosa 11	http://purl.obolibrary.org/obo/MONDO_0800395	PRPF31-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.
http://purl.obolibrary.org/obo/MONDO_0010829	CARASIL syndrome	http://purl.obolibrary.org/obo/MONDO_0014768	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
http://purl.obolibrary.org/obo/MONDO_0010830	neuronal ceroid lipofuscinosis 8	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.
http://purl.obolibrary.org/obo/MONDO_0010835	pterygium colli-intellectual disability-digital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0010837	primary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001741	hyperparathyroidism		Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.
http://purl.obolibrary.org/obo/MONDO_0010839	neuronopathy, distal hereditary motor, autosomal dominant 8	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated.
http://purl.obolibrary.org/obo/MONDO_0010840	pachygyria-intellectual disability-epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
http://purl.obolibrary.org/obo/MONDO_0010842	multiple cutaneous and mucosal venous malformations	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.
http://purl.obolibrary.org/obo/MONDO_0010844	epiphyseal dysplasia, multiple, 2	http://purl.obolibrary.org/obo/MONDO_0015627	multiple epiphyseal dysplasia due to collagen 9 anomaly		Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.
http://purl.obolibrary.org/obo/MONDO_0010847	spinocerebellar ataxia type 4	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.
http://purl.obolibrary.org/obo/MONDO_0010848	spinocerebellar ataxia type 5	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.
http://purl.obolibrary.org/obo/MONDO_0010851	Lowry-MacLean syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.
http://purl.obolibrary.org/obo/MONDO_0010854	Toriello-Lacassie-Droste syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.
http://purl.obolibrary.org/obo/MONDO_0010855	short tarsus-absence of lower eyelashes syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
http://purl.obolibrary.org/obo/MONDO_0010856	autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	http://purl.obolibrary.org/obo/MONDO_0019741	familial cystic renal disease		Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).
http://purl.obolibrary.org/obo/MONDO_0010858	macrocephaly-spastic paraplegia-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0010860	autosomal recessive nonsyndromic hearing loss 3	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.
http://purl.obolibrary.org/obo/MONDO_0010861	type 1 diabetes mellitus 3	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26.
http://purl.obolibrary.org/obo/MONDO_0010862	type 1 diabetes mellitus 4	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13.
http://purl.obolibrary.org/obo/MONDO_0010863	type 1 diabetes mellitus 5	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene.
http://purl.obolibrary.org/obo/MONDO_0010864	type 1 diabetes mellitus 7	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31.
http://purl.obolibrary.org/obo/MONDO_0010865	pseudoaminopterin syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.
http://purl.obolibrary.org/obo/MONDO_0010866	infantile osteopetrosis with neuroaxonal dysplasia	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
http://purl.obolibrary.org/obo/MONDO_0010867	PARC syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.
http://purl.obolibrary.org/obo/MONDO_0010870	tibial muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0100494	autosomal dominant titinopathy		A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.
http://purl.obolibrary.org/obo/MONDO_0010876	recessive aplasia cutis congenita of limbs	http://purl.obolibrary.org/obo/MONDO_0019294	mixed dermis disorder		Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.
http://purl.obolibrary.org/obo/MONDO_0010877	Charcot-Marie-Tooth disease type 5	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.
http://purl.obolibrary.org/obo/MONDO_0010878	hereditary spastic paraplegia 6	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
http://purl.obolibrary.org/obo/MONDO_0010879	CODAS syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.
http://purl.obolibrary.org/obo/MONDO_0010880	telangiectasia, hereditary hemorrhagic, type 2	http://purl.obolibrary.org/obo/MONDO_0019180	hereditary hemorrhagic telangiectasia		Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.
http://purl.obolibrary.org/obo/MONDO_0010881	mesomelia-synostoses syndrome	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
http://purl.obolibrary.org/obo/MONDO_0010882	aphalangy-syndactyly-microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0010883	pectus excavatum-macrocephaly-dysplastic nails syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0010885	angiokeratoma corporis diffusum with arteriovenous fistulas	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare hereditary vascular disease characterized by the presence of multiple angiokeratomas (small, dark red to purple skin lesions) and abnormal connections between arteries and veins (arteriovenous fistulas).
http://purl.obolibrary.org/obo/MONDO_0010886	2q37 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0010887	isolated anterior cervical hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0019280	hypertrichosis		Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.
http://purl.obolibrary.org/obo/MONDO_0010888	adenomyosis	http://purl.obolibrary.org/obo/MONDO_0000931	endometrial disorder		The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.
http://purl.obolibrary.org/obo/MONDO_0010889	arterial dissection-lentiginosis syndrome	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).
http://purl.obolibrary.org/obo/MONDO_0010890	acrocardiofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0010891	lethal hemolytic anemia-genital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia		Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.
http://purl.obolibrary.org/obo/MONDO_0010894	maturity-onset diabetes of the young type 3	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.
http://purl.obolibrary.org/obo/MONDO_0010895	ABCD syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).
http://purl.obolibrary.org/obo/MONDO_0010896	pigment dispersion syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.
http://purl.obolibrary.org/obo/MONDO_0010898	autosomal dominant epilepsy with auditory features	http://purl.obolibrary.org/obo/MONDO_0800496	epilepsy with auditory features		A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.
http://purl.obolibrary.org/obo/MONDO_0010899	autosomal dominant nocturnal frontal lobe epilepsy 1	http://purl.obolibrary.org/obo/MONDO_0000030	familial sleep-related hypermotor epilepsy		Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.
http://purl.obolibrary.org/obo/MONDO_0010901	HEC syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		HEC syndrome is characterized by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.
http://purl.obolibrary.org/obo/MONDO_0010902	spondyloepiphyseal dysplasia, Reardon type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
http://purl.obolibrary.org/obo/MONDO_0010907	familial hypertryptophanemia	http://purl.obolibrary.org/obo/MONDO_0017350	inborn disorder of tryptophan metabolism		Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.
http://purl.obolibrary.org/obo/MONDO_0010908	loose anagen syndrome	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.
http://purl.obolibrary.org/obo/MONDO_0010911	prolactin-producing pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0017824	familial isolated pituitary adenoma		Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.
http://purl.obolibrary.org/obo/MONDO_0010912	fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	http://purl.obolibrary.org/obo/MONDO_0100154	TUBB3-related tubulinopathy		Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.
http://purl.obolibrary.org/obo/MONDO_0010913	Caroli disease	http://purl.obolibrary.org/obo/MONDO_0006322	non-neoplastic bile duct disorder		Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0010915	autosomal dominant nonsyndromic hearing loss 4A	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.
http://purl.obolibrary.org/obo/MONDO_0010916	polycystic kidney disease 3 with or without polycystic liver disease	http://purl.obolibrary.org/obo/MONDO_0004691	autosomal dominant polycystic kidney disease		Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.
http://purl.obolibrary.org/obo/MONDO_0010921	nasal dermoid cyst	http://purl.obolibrary.org/obo/MONDO_0015380	facial dermoid cyst		A dermoid cyst that involves the nose.
http://purl.obolibrary.org/obo/MONDO_0010922	Satoyoshi syndrome	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.
http://purl.obolibrary.org/obo/MONDO_0010924	D-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0016001	2-hydroxyglutaric aciduria		D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
http://purl.obolibrary.org/obo/MONDO_0010925	velo-facial-skeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
http://purl.obolibrary.org/obo/MONDO_0010926	familial hypocalciuric hypercalcemia 3	http://purl.obolibrary.org/obo/MONDO_0018458	familial hypocalciuric hypercalcemia		Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.
http://purl.obolibrary.org/obo/MONDO_0010930	anophthalmia plus syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0010932	progressive bifocal chorioretinal atrophy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.
http://purl.obolibrary.org/obo/MONDO_0010933	autosomal recessive nonsyndromic hearing loss 4	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.
http://purl.obolibrary.org/obo/MONDO_0010936	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.
http://purl.obolibrary.org/obo/MONDO_0010945	retinitis pigmentosa 17	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.
http://purl.obolibrary.org/obo/MONDO_0010946	hypertrophic cardiomyopathy 6	http://purl.obolibrary.org/obo/MONDO_0800484	PRKAG2-related cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.
http://purl.obolibrary.org/obo/MONDO_0010947	Budd-Chiari syndrome	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.
http://purl.obolibrary.org/obo/MONDO_0010948	cataract 10 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.
http://purl.obolibrary.org/obo/MONDO_0010949	Charcot-Marie-Tooth disease type 2B	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
http://purl.obolibrary.org/obo/MONDO_0010950	type 1 diabetes mellitus 8	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27.
http://purl.obolibrary.org/obo/MONDO_0010951	dilated cardiomyopathy 1B	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.
http://purl.obolibrary.org/obo/MONDO_0010952	hereditary hyperferritinemia with congenital cataracts	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
http://purl.obolibrary.org/obo/MONDO_0010953	Fanconi anemia complementation group E	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.
http://purl.obolibrary.org/obo/MONDO_0010959	van den Ende-Gupta syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0010961	obesity due to prohormone convertase I deficiency	http://purl.obolibrary.org/obo/MONDO_0019182	inherited obesity		Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.
http://purl.obolibrary.org/obo/MONDO_0010963	autosomal dominant nonsyndromic hearing loss 6	http://purl.obolibrary.org/obo/MONDO_0700293	WFS1-related disorder		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.
http://purl.obolibrary.org/obo/MONDO_0010964	epiphyseal dysplasia, multiple, 3	http://purl.obolibrary.org/obo/MONDO_0015627	multiple epiphyseal dysplasia due to collagen 9 anomaly		Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.
http://purl.obolibrary.org/obo/MONDO_0010965	autosomal recessive nonsyndromic hearing loss 6	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.
http://purl.obolibrary.org/obo/MONDO_0010966	achondrogenesis type IB	http://purl.obolibrary.org/obo/MONDO_0100592	SLC26A2-related skeletal dysplasia		Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
http://purl.obolibrary.org/obo/MONDO_0010967	autosomal recessive nonsyndromic hearing loss 7	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.
http://purl.obolibrary.org/obo/MONDO_0010969	cone-rod dystrophy 5	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.
http://purl.obolibrary.org/obo/MONDO_0010971	infundibulopelvic stenosis-multicystic kidney syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.
http://purl.obolibrary.org/obo/MONDO_0010972	hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
http://purl.obolibrary.org/obo/MONDO_0010973	autosomal dominant nonsyndromic hearing loss 5	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.
http://purl.obolibrary.org/obo/MONDO_0010977	Brody myopathy	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.
http://purl.obolibrary.org/obo/MONDO_0010979	Timothy syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.
http://purl.obolibrary.org/obo/MONDO_0010981	absent tibia-polydactyly-arachnoid cyst syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.
http://purl.obolibrary.org/obo/MONDO_0010983	dystonia 9	http://purl.obolibrary.org/obo/MONDO_0016058	paroxysmal dystonia		A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/MONDO_0010984	Usher syndrome type 1D	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0010986	autosomal recessive nonsyndromic hearing loss 9	http://purl.obolibrary.org/obo/MONDO_0021944	auditory neuropathy		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.
http://purl.obolibrary.org/obo/MONDO_0010987	autosomal recessive nonsyndromic hearing loss 8	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.
http://purl.obolibrary.org/obo/MONDO_0010988	aplasia cutis-myopia syndrome	http://purl.obolibrary.org/obo/MONDO_0007145	aplasia cutis congenita		Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0010993	Harrod syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.
http://purl.obolibrary.org/obo/MONDO_0010995	Charcot-Marie-Tooth disease type 1C	http://purl.obolibrary.org/obo/MONDO_0019011	Charcot-Marie-Tooth disease type 1		Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.
http://purl.obolibrary.org/obo/MONDO_0010998	ALG3-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).
http://purl.obolibrary.org/obo/MONDO_0010999	fallot complex-intellectual disability-growth delay syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
http://purl.obolibrary.org/obo/MONDO_0011001	Brugada syndrome 1	http://purl.obolibrary.org/obo/MONDO_1010181	SCN5A-related cardiac rhythm disorder		Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.
http://purl.obolibrary.org/obo/MONDO_0011003	dilated cardiomyopathy 1E	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.
http://purl.obolibrary.org/obo/MONDO_0011004	lissencephaly type 3-metacarpal bone dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015148	lissencephaly type 3		This syndrome is characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.
http://purl.obolibrary.org/obo/MONDO_0011007	diaphragmatic defect-limb deficiency-skull defect syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.
http://purl.obolibrary.org/obo/MONDO_0011008	cleft lip/palate-intestinal malrotation-cardiopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.
http://purl.obolibrary.org/obo/MONDO_0011010	Matthew-Wood syndrome	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.
http://purl.obolibrary.org/obo/MONDO_0011011	skeletal dysplasia-epilepsy-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0011012	African iron overload	http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis		African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.
http://purl.obolibrary.org/obo/MONDO_0011013	autosomal dominant hypocalcemia 1	http://purl.obolibrary.org/obo/MONDO_0018543	autosomal dominant hypocalcemia		Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.
http://purl.obolibrary.org/obo/MONDO_0011014	pleuropulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0100216	DICER1-related tumor predisposition		A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.
http://purl.obolibrary.org/obo/MONDO_0011015	cataract 24	http://purl.obolibrary.org/obo/MONDO_0020373	early-onset anterior polar cataract		A cataract that has material basis in variation in the region 17p13.
http://purl.obolibrary.org/obo/MONDO_0011016	type 1 diabetes mellitus 11	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31.
http://purl.obolibrary.org/obo/MONDO_0011017	Naxos disease	http://purl.obolibrary.org/obo/MONDO_0100080	cardioectodermal syndrome		A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.
http://purl.obolibrary.org/obo/MONDO_0011018	brachyolmia-amelogenesis imperfecta syndrome	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
http://purl.obolibrary.org/obo/MONDO_0011019	alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.
http://purl.obolibrary.org/obo/MONDO_0011020	osteoporosis-oculocutaneous hypopigmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Osteoporosis-oculocutaneous hypopigmentation syndrome is characterized by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0011023	hereditary mixed polyposis syndrome	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
http://purl.obolibrary.org/obo/MONDO_0011024	dermatitis herpetiformis, familial	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.
http://purl.obolibrary.org/obo/MONDO_0011025	Cayman type cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0020043	autosomal recessive congenital cerebellar ataxia		Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0011026	autosomal recessive congenital ichthyosis 4A	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.
http://purl.obolibrary.org/obo/MONDO_0011028	autosomal recessive limb-girdle muscular dystrophy type 2F	http://purl.obolibrary.org/obo/MONDO_0016144	qualitative or quantitative defects of delta-sarcoglycan		Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
http://purl.obolibrary.org/obo/MONDO_0011031	autosomal dominant nonsyndromic hearing loss 10	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.
http://purl.obolibrary.org/obo/MONDO_0011032	autosomal dominant nonsyndromic hearing loss 11	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.
http://purl.obolibrary.org/obo/MONDO_0011033	type 1 diabetes mellitus 13	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34.
http://purl.obolibrary.org/obo/MONDO_0011034	odontomicronychial dysplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.
http://purl.obolibrary.org/obo/MONDO_0011035	neurofibromatosis-Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0021060	RASopathy		A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).
http://purl.obolibrary.org/obo/MONDO_0011036	porencephaly-cerebellar hypoplasia-internal malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.
http://purl.obolibrary.org/obo/MONDO_0011038	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
http://purl.obolibrary.org/obo/MONDO_0011041	ectodermal dysplasia with natal teeth, Turnpenny type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0011045	MMEP syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.
http://purl.obolibrary.org/obo/MONDO_0011046	short stature, Brussels type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		This syndrome is characterized by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0011047	deafness-epiphyseal dysplasia-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).
http://purl.obolibrary.org/obo/MONDO_0011049	Fine-Lubinsky syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.
http://purl.obolibrary.org/obo/MONDO_0011053	intellectual disability-sparse hair-brachydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.
http://purl.obolibrary.org/obo/MONDO_0011054	autosomal recessive amelia	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.
http://purl.obolibrary.org/obo/MONDO_0011055	distal monosomy 10p	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.
http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.
http://purl.obolibrary.org/obo/MONDO_0011058	autosomal dominant nonsyndromic hearing loss 9	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.
http://purl.obolibrary.org/obo/MONDO_0011059	holoprosencephaly-craniosynostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.
http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.
http://purl.obolibrary.org/obo/MONDO_0011063	hidrotic ectodermal dysplasia, Christianson-Fourie type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.
http://purl.obolibrary.org/obo/MONDO_0011065	Hunter-McAlpine craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).
http://purl.obolibrary.org/obo/MONDO_0011066	Charcot-Marie-Tooth disease type 4B1	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).
http://purl.obolibrary.org/obo/MONDO_0011067	autosomal recessive nonsyndromic hearing loss 12	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.
http://purl.obolibrary.org/obo/MONDO_0011071	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.
http://purl.obolibrary.org/obo/MONDO_0011074	autosomal dominant nonsyndromic hearing loss 7	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.
http://purl.obolibrary.org/obo/MONDO_0011075	retinitis pigmentosa 18	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.
http://purl.obolibrary.org/obo/MONDO_0011076	myofibrillar myopathy 1	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0011078	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
http://purl.obolibrary.org/obo/MONDO_0011079	rhizomelic dysplasia, Patterson-Lowry type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.
http://purl.obolibrary.org/obo/MONDO_0011080	progressive deafness with stapes fixation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).
http://purl.obolibrary.org/obo/MONDO_0011081	dislocation of the hip-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.
http://purl.obolibrary.org/obo/MONDO_0011083	trichodental syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0011085	Charcot-Marie-Tooth disease type 4D	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.
http://purl.obolibrary.org/obo/MONDO_0011086	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.
http://purl.obolibrary.org/obo/MONDO_0011087	inflammatory bowel disease 2	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.
http://purl.obolibrary.org/obo/MONDO_0011088	congenital myasthenic syndrome 1A	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.
http://purl.obolibrary.org/obo/MONDO_0011089	patent ductus venosus	http://purl.obolibrary.org/obo/MONDO_0018811	congenital portosystemic shunt		Patent ductus venosus (PDV) is an extremely rare form of congenital portosystemic shunt that results in the diversion of portal blood into the systemic circulation. Failure of DV closure after birth leads to PDV. PDV results in portal venous blood bypassing the liver and directly entering the systemic circulation, decreasing hepatic blood flow and increasing blood volume and toxic substances in the systemic circulation.
http://purl.obolibrary.org/obo/MONDO_0011090	isolated hereditary congenital facial paralysis	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.
http://purl.obolibrary.org/obo/MONDO_0011091	Charcot-Marie-Tooth disease type 2D	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
http://purl.obolibrary.org/obo/MONDO_0011092	ribbing disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.
http://purl.obolibrary.org/obo/MONDO_0011093	mucopolysaccharidosis type 9	http://purl.obolibrary.org/obo/MONDO_0019249	mucopolysaccharidosis		An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.
http://purl.obolibrary.org/obo/MONDO_0011094	dilated cardiomyopathy 1C	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.
http://purl.obolibrary.org/obo/MONDO_0011095	dilated cardiomyopathy 1D	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0016462	isolated agammaglobulinemia		Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.
http://purl.obolibrary.org/obo/MONDO_0011097	Axenfeld-Rieger syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0019187	Axenfeld-Rieger syndrome		An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.
http://purl.obolibrary.org/obo/MONDO_0011099	human HOXA1 syndromes	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0011102	autosomal dominant nonsyndromic hearing loss 12	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.
http://purl.obolibrary.org/obo/MONDO_0011103	autosomal dominant nonsyndromic hearing loss 3A	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.
http://purl.obolibrary.org/obo/MONDO_0011104	cataract 3 multiple types	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.
http://purl.obolibrary.org/obo/MONDO_0011106	facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
http://purl.obolibrary.org/obo/MONDO_0011107	congenital hypotrichosis with juvenile macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
http://purl.obolibrary.org/obo/MONDO_0011109	multiple epiphyseal dysplasia, Lowry type	http://purl.obolibrary.org/obo/MONDO_0016648	multiple epiphyseal dysplasia		Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
http://purl.obolibrary.org/obo/MONDO_0011110	dyssegmental dysplasia-glaucoma syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.
http://purl.obolibrary.org/obo/MONDO_0011112	Wilms tumor 5	http://purl.obolibrary.org/obo/MONDO_0003321	hereditary Wilms tumor		Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.
http://purl.obolibrary.org/obo/MONDO_0011113	Charcot-Marie-Tooth disease type 4C	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.
http://purl.obolibrary.org/obo/MONDO_0011121	pheochromocytoma/paraganglioma syndrome 2	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas.
http://purl.obolibrary.org/obo/MONDO_0011122	obesity disorder	http://purl.obolibrary.org/obo/MONDO_0003916	overnutrition		A disorder involving an excessive amount of body fat.
http://purl.obolibrary.org/obo/MONDO_0011123	type 1 diabetes mellitus 15	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21.
http://purl.obolibrary.org/obo/MONDO_0011132	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
http://purl.obolibrary.org/obo/MONDO_0011133	deaf blind hypopigmentation syndrome, Yemenite type	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
http://purl.obolibrary.org/obo/MONDO_0011134	Curry-Jones syndrome	http://purl.obolibrary.org/obo/MONDO_1030005	mosaic SMO syndrome		Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.
http://purl.obolibrary.org/obo/MONDO_0011136	Quebec platelet disorder	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
http://purl.obolibrary.org/obo/MONDO_0011137	retinitis pigmentosa 19	http://purl.obolibrary.org/obo/MONDO_0800406	ABCA4-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.
http://purl.obolibrary.org/obo/MONDO_0011143	cone-rod dystrophy 6	http://purl.obolibrary.org/obo/MONDO_0100454	GUCY2D retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
http://purl.obolibrary.org/obo/MONDO_0011144	ceroid lipofuscinosis, neuronal, 6A	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
http://purl.obolibrary.org/obo/MONDO_0011146	tetrasomy 12p	http://purl.obolibrary.org/obo/MONDO_0016933	partial trisomy/tetrasomy of the short arm of chromosome 12		Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
http://purl.obolibrary.org/obo/MONDO_0011147	chromosome 18q deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016880	partial deletion of chromosome 18		A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.
http://purl.obolibrary.org/obo/MONDO_0011148	Spondylospinal thoracic dysostosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.
http://purl.obolibrary.org/obo/MONDO_0011152	PHGDH deficiency	http://purl.obolibrary.org/obo/MONDO_0018491	3-phosphoglycerate dehydrogenase deficiency		3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form
http://purl.obolibrary.org/obo/MONDO_0011154	acrofacial dysostosis, Palagonia type	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
http://purl.obolibrary.org/obo/MONDO_0011156	progressive familial intrahepatic cholestasis type 2	http://purl.obolibrary.org/obo/MONDO_0011559	benign recurrent intrahepatic cholestasis type 2		Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
http://purl.obolibrary.org/obo/MONDO_0011159	autosomal dominant nonsyndromic hearing loss 13	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.
http://purl.obolibrary.org/obo/MONDO_0011160	autosomal recessive nonsyndromic hearing loss 15	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.
http://purl.obolibrary.org/obo/MONDO_0011162	cataract 14 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.
http://purl.obolibrary.org/obo/MONDO_0011166	lymphedema-atrial septal defects-facial changes syndrome	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0011167	type 1 diabetes mellitus 6	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21.
http://purl.obolibrary.org/obo/MONDO_0011168	type 1 diabetes mellitus 10	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.
http://purl.obolibrary.org/obo/MONDO_0011169	keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.
http://purl.obolibrary.org/obo/MONDO_0011170	autosomal recessive limb-girdle muscular dystrophy type 2G	http://purl.obolibrary.org/obo/MONDO_0016192	neuromuscular disease caused by qualitative or quantitative defects of telethonin		Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
http://purl.obolibrary.org/obo/MONDO_0011171	odonto-tricho-ungual-digito-palmar syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0011176	intestinal hypomagnesemia 1	http://purl.obolibrary.org/obo/MONDO_0017626	familial primary hypomagnesemia with normocalcuria		Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
http://purl.obolibrary.org/obo/MONDO_0011177	ectodermal dysplasia 4, hair/nail type	http://purl.obolibrary.org/obo/MONDO_0019071	pure hair and nail ectodermal dysplasia		Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.
http://purl.obolibrary.org/obo/MONDO_0011178	infantile convulsions and choreoathetosis	http://purl.obolibrary.org/obo/MONDO_0015427	paroxysmal dyskinesia		A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.
http://purl.obolibrary.org/obo/MONDO_0011181	fibrosis of extraocular muscles, congenital, 2	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.
http://purl.obolibrary.org/obo/MONDO_0011182	trimethylaminuria	http://purl.obolibrary.org/obo/MONDO_0011610	dimethylglycine dehydrogenase deficiency		A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.
http://purl.obolibrary.org/obo/MONDO_0011185	Thiel-Behnke corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.
http://purl.obolibrary.org/obo/MONDO_0011186	Usher syndrome type 1F	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0011188	arrhythmogenic right ventricular dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.
http://purl.obolibrary.org/obo/MONDO_0011189	arrhythmogenic right ventricular dysplasia 4	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.
http://purl.obolibrary.org/obo/MONDO_0011190	nephronophthisis 2	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.
http://purl.obolibrary.org/obo/MONDO_0011191	capillary infantile hemangioma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover.
http://purl.obolibrary.org/obo/MONDO_0011192	autosomal recessive nonsyndromic hearing loss 18A	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.
http://purl.obolibrary.org/obo/MONDO_0011195	Usher syndrome type 1E	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0011196	amyotrophic lateral sclerosis type 5	http://purl.obolibrary.org/obo/MONDO_0017593	juvenile amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.
http://purl.obolibrary.org/obo/MONDO_0011197	hereditary thermosensitive neuropathy	http://purl.obolibrary.org/obo/MONDO_0015358	hereditary motor and sensory neuropathy		Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.
http://purl.obolibrary.org/obo/MONDO_0011198	spondyloepimetaphyseal dysplasia, Missouri type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
http://purl.obolibrary.org/obo/MONDO_0011200	torsion dystonia 7	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.
http://purl.obolibrary.org/obo/MONDO_0011202	RHYNS syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0011211	axial spondylometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.
http://purl.obolibrary.org/obo/MONDO_0011213	Pierpont syndrome	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.
http://purl.obolibrary.org/obo/MONDO_0011214	progressive familial intrahepatic cholestasis type 3	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
http://purl.obolibrary.org/obo/MONDO_0011215	osteocraniostenosis	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		A lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
http://purl.obolibrary.org/obo/MONDO_0011216	hemochromatosis type 2A	http://purl.obolibrary.org/obo/MONDO_0019257	hemochromatosis type 2		Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.
http://purl.obolibrary.org/obo/MONDO_0011217	desmosterolosis	http://purl.obolibrary.org/obo/MONDO_0019702	neonatal osteosclerotic dysplasia		Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
http://purl.obolibrary.org/obo/MONDO_0011223	amyotrophic lateral sclerosis type 4	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.
http://purl.obolibrary.org/obo/MONDO_0011224	monomelic amyotrophy	http://purl.obolibrary.org/obo/MONDO_0020129	acquired motor neuron disease		Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.
http://purl.obolibrary.org/obo/MONDO_0011225	severe combined immunodeficiency due to DCLRE1C deficiency	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
http://purl.obolibrary.org/obo/MONDO_0011226	autosomal dominant nonsyndromic hearing loss 15	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.
http://purl.obolibrary.org/obo/MONDO_0011229	ethylmalonic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
http://purl.obolibrary.org/obo/MONDO_0011230	ossification of the posterior longitudinal ligament of the spine	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.
http://purl.obolibrary.org/obo/MONDO_0011233	Axenfeld-Rieger syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0100235	FOXC1-related anterior segment dysgenesis		Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.
http://purl.obolibrary.org/obo/MONDO_0011237	hyperlipidemia, combined, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene.
http://purl.obolibrary.org/obo/MONDO_0011240	megalencephaly-capillary malformation-polymicrogyria syndrome	http://purl.obolibrary.org/obo/MONDO_1040002	PIK3CA-related overgrowth spectrum		A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0011242	Bartter disease type 4A	http://purl.obolibrary.org/obo/MONDO_0019524	Bartter syndrome type 4		Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.
http://purl.obolibrary.org/obo/MONDO_0011243	grange syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0011244	Marshall-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.
http://purl.obolibrary.org/obo/MONDO_0011248	distal monosomy 13q	http://purl.obolibrary.org/obo/MONDO_0016911	partial deletion of the long arm of chromosome 13		Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.
http://purl.obolibrary.org/obo/MONDO_0011249	torsion dystonia with onset in infancy	http://purl.obolibrary.org/obo/MONDO_0007492	early-onset generalized limb-onset dystonia		A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.
http://purl.obolibrary.org/obo/MONDO_0011252	spondyloepimetaphyseal dysplasia, Shohat type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0011253	craniomicromelic syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.
http://purl.obolibrary.org/obo/MONDO_0011257	MPI-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).
http://purl.obolibrary.org/obo/MONDO_0011259	retinitis pigmentosa 22	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.
http://purl.obolibrary.org/obo/MONDO_0011260	pancreatic lymphoma, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0011261	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0011262	camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
http://purl.obolibrary.org/obo/MONDO_0011264	torsion dystonia 6	http://purl.obolibrary.org/obo/MONDO_0000476	generalized dystonia		Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
http://purl.obolibrary.org/obo/MONDO_0011266	myotonic dystrophy type 2	http://purl.obolibrary.org/obo/MONDO_0016107	myotonic dystrophy		Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.
http://purl.obolibrary.org/obo/MONDO_0011271	rigid spine muscular dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0100100	SELENON-related myopathy		An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.
http://purl.obolibrary.org/obo/MONDO_0011272	retinitis pigmentosa 25	http://purl.obolibrary.org/obo/MONDO_0800391	EYS-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.
http://purl.obolibrary.org/obo/MONDO_0011273	H syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).
http://purl.obolibrary.org/obo/MONDO_0011274	Muenke syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0011275	acromesomelic dysplasia 1, Maroteaux type	http://purl.obolibrary.org/obo/MONDO_0019696	acromesomelic dysplasia		A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.
http://purl.obolibrary.org/obo/MONDO_0011279	autosomal recessive nonsyndromic hearing loss 17	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.
http://purl.obolibrary.org/obo/MONDO_0011281	congenital myasthenic syndrome 5	http://purl.obolibrary.org/obo/MONDO_0018940	congenital myasthenic syndrome		Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0011284	astigmatism	http://purl.obolibrary.org/obo/MONDO_0004892	refractive error		Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0011285	age related macular degeneration 1	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.
http://purl.obolibrary.org/obo/MONDO_0011286	autosomal recessive nonsyndromic hearing loss 13	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.
http://purl.obolibrary.org/obo/MONDO_0011287	craniosynostosis-anal anomalies-porokeratosis syndrome	http://purl.obolibrary.org/obo/MONDO_1060223	RNU12-related minor spliceopathy disorder		Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
http://purl.obolibrary.org/obo/MONDO_0011291	ALG6-congenital disorder of glycosylation 1C	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).
http://purl.obolibrary.org/obo/MONDO_0011296	Meckel syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
http://purl.obolibrary.org/obo/MONDO_0011297	autosomal dominant nocturnal frontal lobe epilepsy 2	http://purl.obolibrary.org/obo/MONDO_0000030	familial sleep-related hypermotor epilepsy		An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.
http://purl.obolibrary.org/obo/MONDO_0011299	Huntington disease-like 1	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.
http://purl.obolibrary.org/obo/MONDO_0011301	pseudohypoparathyroidism type 1B	http://purl.obolibrary.org/obo/MONDO_0019992	pseudohypoparathyroidism		Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
http://purl.obolibrary.org/obo/MONDO_0011302	type 1 diabetes mellitus 17	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.
http://purl.obolibrary.org/obo/MONDO_0011303	focal segmental glomerulosclerosis 1	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.
http://purl.obolibrary.org/obo/MONDO_0011304	cerebral cavernous malformation 2	http://purl.obolibrary.org/obo/MONDO_0031037	famililal cerebral cavernous malformations		Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.
http://purl.obolibrary.org/obo/MONDO_0011305	cerebral cavernous malformation 3	http://purl.obolibrary.org/obo/MONDO_0031037	famililal cerebral cavernous malformations		Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.
http://purl.obolibrary.org/obo/MONDO_0011308	GRACILE syndrome	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
http://purl.obolibrary.org/obo/MONDO_0011313	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	http://purl.obolibrary.org/obo/MONDO_1040004	PIK3R2-related overgrowth spectrum		Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.
http://purl.obolibrary.org/obo/MONDO_0011323	arhinia, choanal atresia, and microphthalmia	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		Any syndromic disease characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence that occurs due to variation in the SMCHD1 gene.
http://purl.obolibrary.org/obo/MONDO_0011325	Fanconi anemia complementation group F	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.
http://purl.obolibrary.org/obo/MONDO_0011327	neuronal intranuclear inclusion disease	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.
http://purl.obolibrary.org/obo/MONDO_0011330	spinocerebellar ataxia type 10	http://purl.obolibrary.org/obo/MONDO_0019794	autosomal dominant cerebellar ataxia type IV		Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.
http://purl.obolibrary.org/obo/MONDO_0011331	congenital chylothorax	http://purl.obolibrary.org/obo/MONDO_0017015	primary interstitial lung disease specific to childhood		Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.
http://purl.obolibrary.org/obo/MONDO_0011334	limb-mammary syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.
http://purl.obolibrary.org/obo/MONDO_0011335	spondyloepimetaphyseal dysplasia with multiple dislocations	http://purl.obolibrary.org/obo/MONDO_0019675	spondyloepimetaphyseal dysplasia with joint laxity		A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.
http://purl.obolibrary.org/obo/MONDO_0011336	familial hemophagocytic lymphohistiocytosis 4	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.
http://purl.obolibrary.org/obo/MONDO_0011337	familial hemophagocytic lymphohistiocytosis 2	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.
http://purl.obolibrary.org/obo/MONDO_0011338	Omenn syndrome	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).
http://purl.obolibrary.org/obo/MONDO_0011339	hereditary spastic paraplegia 8	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.
http://purl.obolibrary.org/obo/MONDO_0011342	SLC35A1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0011346	xanthinuria type II	http://purl.obolibrary.org/obo/MONDO_0018106	hereditary xanthinuria		Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0011350	autosomal dominant nonsyndromic hearing loss 17	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.
http://purl.obolibrary.org/obo/MONDO_0011351	autosomal recessive nonsyndromic hearing loss 21	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.
http://purl.obolibrary.org/obo/MONDO_0011359	acromelic frontonasal dysostosis	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
http://purl.obolibrary.org/obo/MONDO_0011360	autosomal recessive nonsyndromic hearing loss 14	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.
http://purl.obolibrary.org/obo/MONDO_0011364	autosomal recessive nonsyndromic hearing loss 16	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.
http://purl.obolibrary.org/obo/MONDO_0011365	blepharophimosis - intellectual disability syndrome, SBBYS type	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0011366	ovarian germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm		A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.
http://purl.obolibrary.org/obo/MONDO_0011367	Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.
http://purl.obolibrary.org/obo/MONDO_0011368	papillary thyroid Microcarcinoma	http://purl.obolibrary.org/obo/MONDO_0017895	familial papillary or follicular thyroid carcinoma		A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.
http://purl.obolibrary.org/obo/MONDO_0011369	hypercholesterolemia, autosomal dominant, 3	http://purl.obolibrary.org/obo/MONDO_0005439	familial hypercholesterolemia		Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.
http://purl.obolibrary.org/obo/MONDO_0011370	Stargardt disease 4	http://purl.obolibrary.org/obo/MONDO_1040053	PROM1-related dominant retinopathy		Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.
http://purl.obolibrary.org/obo/MONDO_0011371	hydroa vacciniforme, familial	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0011374	hypercholesterolemia, familial, 4	http://purl.obolibrary.org/obo/MONDO_0037748	hyperlipoproteinemia		An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.
http://purl.obolibrary.org/obo/MONDO_0011377	long QT syndrome 3	http://purl.obolibrary.org/obo/MONDO_1010181	SCN5A-related cardiac rhythm disorder		An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
http://purl.obolibrary.org/obo/MONDO_0011381	dominant beta-thalassemia	http://purl.obolibrary.org/obo/MONDO_0019402	beta thalassemia		Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.
http://purl.obolibrary.org/obo/MONDO_0011382	sickle cell disease	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
http://purl.obolibrary.org/obo/MONDO_0011383	autoimmune lymphoproliferative syndrome type 2A	http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome		A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0011385	intervertebral disk degenerative disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any disease of a degenerative nature that affects the intervertebral disk.
http://purl.obolibrary.org/obo/MONDO_0011389	autosomal dominant nonsyndromic hearing loss 16	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.
http://purl.obolibrary.org/obo/MONDO_0011390	focal segmental glomerulosclerosis 2	http://purl.obolibrary.org/obo/MONDO_0005363	inherited focal segmental glomerulosclerosis		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.
http://purl.obolibrary.org/obo/MONDO_0011391	megalencephalic leukoencephalopathy with subcortical cysts	http://purl.obolibrary.org/obo/MONDO_0000137	leukoencephalopathy, megalencephalic		Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.
http://purl.obolibrary.org/obo/MONDO_0011392	autosomal recessive nonsyndromic hearing loss 20	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.
http://purl.obolibrary.org/obo/MONDO_0011395	cone-rod dystrophy 3	http://purl.obolibrary.org/obo/MONDO_0800406	ABCA4-related retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.
http://purl.obolibrary.org/obo/MONDO_0011396	loricrin keratoderma	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
http://purl.obolibrary.org/obo/MONDO_0011397	autosomal dominant cerebellar ataxia, deafness and narcolepsy	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.
http://purl.obolibrary.org/obo/MONDO_0011398	dystrophic epidermolysis bullosa pruriginosa	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.
http://purl.obolibrary.org/obo/MONDO_0011399	alpha thalassemia spectrum	http://purl.obolibrary.org/obo/MONDO_0000984	thalassemia		An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
http://purl.obolibrary.org/obo/MONDO_0011400	dilated cardiomyopathy 1G	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.
http://purl.obolibrary.org/obo/MONDO_0011402	congenital cataracts-facial dysmorphism-neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0016949	partial duplication of the short arm of chromosome 16		Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_0011405	poikiloderma with neutropenia	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.
http://purl.obolibrary.org/obo/MONDO_0011408	hereditary spastic paraplegia 10	http://purl.obolibrary.org/obo/MONDO_0100629	KIF5A-related neurological disorder		Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
http://purl.obolibrary.org/obo/MONDO_0011412	familial encephalopathy with neuroserpin inclusion bodies	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has material basis in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
http://purl.obolibrary.org/obo/MONDO_0011413	cataract 9 multiple types	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.
http://purl.obolibrary.org/obo/MONDO_0011414	Peters anomaly	http://purl.obolibrary.org/obo/MONDO_0019503	anterior segment dysgenesis		Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
http://purl.obolibrary.org/obo/MONDO_0011415	Leber congenital amaurosis 3	http://purl.obolibrary.org/obo/MONDO_1040070	SPATA7-related retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.
http://purl.obolibrary.org/obo/MONDO_0011416	generalized epilepsy with febrile seizures plus, type 1	http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus		A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11.
http://purl.obolibrary.org/obo/MONDO_0011417	hemochromatosis type 3	http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis		Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
http://purl.obolibrary.org/obo/MONDO_0011421	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
http://purl.obolibrary.org/obo/MONDO_0011422	autosomal recessive proximal renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.
http://purl.obolibrary.org/obo/MONDO_0011423	autosomal recessive limb-girdle muscular dystrophy type 2E	http://purl.obolibrary.org/obo/MONDO_0016142	qualitative or quantitative defects of beta-sarcoglycan		Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
http://purl.obolibrary.org/obo/MONDO_0011424	Carney triad	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.
http://purl.obolibrary.org/obo/MONDO_0011425	dilated cardiomyopathy 1H	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.
http://purl.obolibrary.org/obo/MONDO_0011426	aceruloplasminemia	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
http://purl.obolibrary.org/obo/MONDO_0011428	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	http://purl.obolibrary.org/obo/MONDO_1040001	TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations		Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.
http://purl.obolibrary.org/obo/MONDO_0011429	juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).
http://purl.obolibrary.org/obo/MONDO_0011430	pulverulent cataract	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.
http://purl.obolibrary.org/obo/MONDO_0011431	MASS syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.
http://purl.obolibrary.org/obo/MONDO_0011436	autosomal recessive distal spinal muscular atrophy 1	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
http://purl.obolibrary.org/obo/MONDO_0011438	acne	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.
http://purl.obolibrary.org/obo/MONDO_0011439	spinocerebellar ataxia type 12	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
http://purl.obolibrary.org/obo/MONDO_0011441	complex regional pain syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0019369	complex regional pain syndrome		Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.
http://purl.obolibrary.org/obo/MONDO_0011442	advanced sleep phase syndrome 1	http://purl.obolibrary.org/obo/MONDO_0015609	advanced sleep phase syndrome		Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.
http://purl.obolibrary.org/obo/MONDO_0011443	febrile seizures, familial, 4	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.
http://purl.obolibrary.org/obo/MONDO_0011445	hereditary spastic paraplegia 11	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.
http://purl.obolibrary.org/obo/MONDO_0011449	Salla disease	http://purl.obolibrary.org/obo/MONDO_0019366	free sialic acid storage disease		Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
http://purl.obolibrary.org/obo/MONDO_0011452	hypotrichosis 7	http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex		Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.
http://purl.obolibrary.org/obo/MONDO_0011454	patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0016432	heart-hand syndrome		Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0011456	nephronophthisis 3	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.
http://purl.obolibrary.org/obo/MONDO_0011457	ataxia-telangiectasia-like disorder	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.
http://purl.obolibrary.org/obo/MONDO_0011458	Leber congenital amaurosis 4	http://purl.obolibrary.org/obo/MONDO_0100438	AIPL1-related retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.
http://purl.obolibrary.org/obo/MONDO_0011459	arrhythmogenic right ventricular dysplasia 5	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.
http://purl.obolibrary.org/obo/MONDO_0011460	arrhythmogenic right ventricular dysplasia 6	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.
http://purl.obolibrary.org/obo/MONDO_0011462	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
http://purl.obolibrary.org/obo/MONDO_0011463	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.
http://purl.obolibrary.org/obo/MONDO_0011464	spinocerebellar ataxia type 11	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.
http://purl.obolibrary.org/obo/MONDO_0011471	inflammatory bowel disease 3	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.
http://purl.obolibrary.org/obo/MONDO_0011472	epidermolysis bullosa simplex due to plakophilin deficiency	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
http://purl.obolibrary.org/obo/MONDO_0011473	Leber congenital amaurosis 5	http://purl.obolibrary.org/obo/MONDO_0100445	LCA5-related retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.
http://purl.obolibrary.org/obo/MONDO_0011474	progressive familial heart block type IB	http://purl.obolibrary.org/obo/MONDO_0019490	progressive familial heart block		Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.
http://purl.obolibrary.org/obo/MONDO_0011475	Charcot-Marie-Tooth disease type 4B2	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.
http://purl.obolibrary.org/obo/MONDO_0011476	MHC class I deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.
http://purl.obolibrary.org/obo/MONDO_0011477	tooth agenesis, selective, 3	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.
http://purl.obolibrary.org/obo/MONDO_0011479	postural orthostatic tachycardia syndrome	http://purl.obolibrary.org/obo/MONDO_0021272	inherited orthostatic hypotension		A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.
http://purl.obolibrary.org/obo/MONDO_0011480	autosomal dominant nonsyndromic hearing loss 20	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.
http://purl.obolibrary.org/obo/MONDO_0011482	dilated cardiomyopathy 1I	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.
http://purl.obolibrary.org/obo/MONDO_0011484	catecholaminergic polymorphic ventricular tachycardia 1	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.
http://purl.obolibrary.org/obo/MONDO_0011485	autosomal recessive congenital ichthyosis 5	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/MONDO_0011486	congenital muscular dystrophy 1B	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.
http://purl.obolibrary.org/obo/MONDO_0011487	Huntington disease-like 3	http://purl.obolibrary.org/obo/MONDO_0015548	Huntington disease-like syndrome		Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.
http://purl.obolibrary.org/obo/MONDO_0011488	microcephaly 3, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.
http://purl.obolibrary.org/obo/MONDO_0011489	hereditary spastic paraplegia 12	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
http://purl.obolibrary.org/obo/MONDO_0011490	diffuse panbronchiolitis	http://purl.obolibrary.org/obo/MONDO_0005002	chronic obstructive pulmonary disease		Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis
http://purl.obolibrary.org/obo/MONDO_0011493	Stickler syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0019354	Stickler syndrome		Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).
http://purl.obolibrary.org/obo/MONDO_0011500	Becker nevus syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.
http://purl.obolibrary.org/obo/MONDO_0011501	wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.
http://purl.obolibrary.org/obo/MONDO_0011502	Wolfram syndrome 2	http://purl.obolibrary.org/obo/MONDO_0018105	Wolfram syndrome		Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.
http://purl.obolibrary.org/obo/MONDO_0011503	cortisone reductase deficiency 1	http://purl.obolibrary.org/obo/MONDO_0000193	cortisone reductase deficiency		Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.
http://purl.obolibrary.org/obo/MONDO_0011504	NDE1-related microhydranencephaly	http://purl.obolibrary.org/obo/MONDO_0015660	sporadic fetal brain disruption sequence		NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
http://purl.obolibrary.org/obo/MONDO_0011505	familial hypobetalipoproteinemia 2	http://purl.obolibrary.org/obo/MONDO_0017774	hypobetalipoproteinemia		Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.
http://purl.obolibrary.org/obo/MONDO_0011510	Bohring-Opitz syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.
http://purl.obolibrary.org/obo/MONDO_0011512	Brooke-Spiegler syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.
http://purl.obolibrary.org/obo/MONDO_0011514	tricuspid atresia	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).
http://purl.obolibrary.org/obo/MONDO_0011517	pseudohyperaldosteronism type 2	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.
http://purl.obolibrary.org/obo/MONDO_0011518	Wiedemann-Steiner syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.
http://purl.obolibrary.org/obo/MONDO_0011519	autosomal dominant nonsyndromic hearing loss 23	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.
http://purl.obolibrary.org/obo/MONDO_0011521	inflammatory bowel disease 7	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.
http://purl.obolibrary.org/obo/MONDO_0011522	hereditary spastic paraplegia 14	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.
http://purl.obolibrary.org/obo/MONDO_0011524	Dianzani autoimmune lymphoproliferative disease	http://purl.obolibrary.org/obo/MONDO_0016537	lymphoproliferative syndrome		Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0011527	Charcot-Marie-Tooth disease type 4E	http://purl.obolibrary.org/obo/MONDO_0033352	neuropathy, congenital hypomelinating		Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.
http://purl.obolibrary.org/obo/MONDO_0011528	hyper-IgM syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.
http://purl.obolibrary.org/obo/MONDO_0011529	spinocerebellar ataxia type 13	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.
http://purl.obolibrary.org/obo/MONDO_0011530	mesomelic dysplasia, Savarirayan type	http://purl.obolibrary.org/obo/MONDO_0023599	mesomelic dysplasia		Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.
http://purl.obolibrary.org/obo/MONDO_0011532	hereditary spastic paraplegia 13	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.
http://purl.obolibrary.org/obo/MONDO_0011533	temtamy preaxial brachydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.
http://purl.obolibrary.org/obo/MONDO_0011534	Charcot-Marie-Tooth disease type 4G	http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis		Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.
http://purl.obolibrary.org/obo/MONDO_0011535	split hand-foot malformation 4	http://purl.obolibrary.org/obo/MONDO_1040001	TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations		Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.
http://purl.obolibrary.org/obo/MONDO_0011537	macrocephaly-autism syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.
http://purl.obolibrary.org/obo/MONDO_0011539	nemaline myopathy 5	http://purl.obolibrary.org/obo/MONDO_0018958	nemaline myopathy		Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.
http://purl.obolibrary.org/obo/MONDO_0011540	spinocerebellar ataxia type 14	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
http://purl.obolibrary.org/obo/MONDO_0011541	dilated cardiomyopathy 1J	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
http://purl.obolibrary.org/obo/MONDO_0011544	pheochromocytoma/paraganglioma syndrome 3	http://purl.obolibrary.org/obo/MONDO_0017366	hereditary pheochromocytoma-paraganglioma		An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHC gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).
http://purl.obolibrary.org/obo/MONDO_0011545	autosomal dominant nocturnal frontal lobe epilepsy 3	http://purl.obolibrary.org/obo/MONDO_0000030	familial sleep-related hypermotor epilepsy		Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.
http://purl.obolibrary.org/obo/MONDO_0011547	cataract 31 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.
http://purl.obolibrary.org/obo/MONDO_0011549	hypotrichosis 1	http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex		Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.
http://purl.obolibrary.org/obo/MONDO_0011552	schizophrenia 10	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.
http://purl.obolibrary.org/obo/MONDO_0011553	autosomal recessive nonsyndromic hearing loss 26	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.
http://purl.obolibrary.org/obo/MONDO_0011558	Usher syndrome type 2C	http://purl.obolibrary.org/obo/MONDO_0016484	Usher syndrome type 2		A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0011561	Alzheimer disease 6	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.
http://purl.obolibrary.org/obo/MONDO_0011562	autosomal dominant Parkinson disease 4	http://purl.obolibrary.org/obo/MONDO_0008199	late-onset Parkinson disease		A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.
http://purl.obolibrary.org/obo/MONDO_0011564	cone-rod dystrophy 8	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.
http://purl.obolibrary.org/obo/MONDO_0011567	dilated cardiomyopathy 1K	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.
http://purl.obolibrary.org/obo/MONDO_0011568	autosomal dominant nonsyndromic hearing loss 25	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.
http://purl.obolibrary.org/obo/MONDO_0011569	Charcot-Marie-Tooth disease type 2B1	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
http://purl.obolibrary.org/obo/MONDO_0011570	Charcot-Marie-Tooth disease type 2B2	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
http://purl.obolibrary.org/obo/MONDO_0011572	type 1 diabetes mellitus 18	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1.
http://purl.obolibrary.org/obo/MONDO_0011575	cerebrooculonasal syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.
http://purl.obolibrary.org/obo/MONDO_0011576	familial hyperaldosteronism type II	http://purl.obolibrary.org/obo/MONDO_0036591	adrenal cortex neoplasm		Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.
http://purl.obolibrary.org/obo/MONDO_0011577	myopathy, proximal, and ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_0011578	familial papillary thyroid carcinoma with renal papillary neoplasia	http://purl.obolibrary.org/obo/MONDO_0017896	familial nonmedullary thyroid carcinoma		Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC).
http://purl.obolibrary.org/obo/MONDO_0011579	late-onset retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.
http://purl.obolibrary.org/obo/MONDO_0011581	arrhythmogenic cardiomyopathy with wooly hair and keratoderma	http://purl.obolibrary.org/obo/MONDO_0100080	cardioectodermal syndrome		A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.
http://purl.obolibrary.org/obo/MONDO_0011582	multiple mitochondrial dysfunctions syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.
http://purl.obolibrary.org/obo/MONDO_0011584	Fanconi anemia complementation group D1	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.
http://purl.obolibrary.org/obo/MONDO_0011585	autosomal recessive distal spinal muscular atrophy 2	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).
http://purl.obolibrary.org/obo/MONDO_0011587	cataract 25	http://purl.obolibrary.org/obo/MONDO_0020372	early-onset sutural cataract		A cataract that has material basis in variation in the region 15q21-q22.
http://purl.obolibrary.org/obo/MONDO_0011588	platelet-type bleeding disorder 12	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
http://purl.obolibrary.org/obo/MONDO_0011591	cataract 26 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		A cataract that has material basis in variation in the region 9q13-q22.
http://purl.obolibrary.org/obo/MONDO_0011596	dermatitis, atopic, 2	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis in which the cause of the disease is a mutation in the FLG gene.
http://purl.obolibrary.org/obo/MONDO_0011597	dermatitis, atopic, 3	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p.
http://purl.obolibrary.org/obo/MONDO_0011598	dermatitis, atopic, 4	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3.
http://purl.obolibrary.org/obo/MONDO_0011599	birdshot chorioretinopathy	http://purl.obolibrary.org/obo/MONDO_0006918	posterior uveitis		Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.
http://purl.obolibrary.org/obo/MONDO_0011600	congenital myasthenic syndrome 4A	http://purl.obolibrary.org/obo/MONDO_1040021	congenital myasthenic syndrome 4		A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
http://purl.obolibrary.org/obo/MONDO_0011601	neonatal intrahepatic cholestasis due to citrin deficiency	http://purl.obolibrary.org/obo/MONDO_0016602	citrin deficiency		Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
http://purl.obolibrary.org/obo/MONDO_0011602	autosomal recessive nonsyndromic hearing loss 27	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.
http://purl.obolibrary.org/obo/MONDO_0011608	dermatitis, atopic, 5	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 13q12-q14.
http://purl.obolibrary.org/obo/MONDO_0011609	dermatitis, atopic, 6	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 5q31-q33.
http://purl.obolibrary.org/obo/MONDO_0011610	dimethylglycine dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0100477	disorder of methylamine metabolism		An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0011612	glycine encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
http://purl.obolibrary.org/obo/MONDO_0011613	autosomal recessive early-onset Parkinson disease 6	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.
http://purl.obolibrary.org/obo/MONDO_0011614	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0017713	disorder of fatty acid oxidation and ketogenesis		3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.
http://purl.obolibrary.org/obo/MONDO_0011616	holoprosencephaly 6	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.
http://purl.obolibrary.org/obo/MONDO_0011620	metaphyseal dysplasia, Braun-Tinschert type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.
http://purl.obolibrary.org/obo/MONDO_0011621	acropectoral syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.
http://purl.obolibrary.org/obo/MONDO_0011624	transaldolase deficiency	http://purl.obolibrary.org/obo/MONDO_0019231	inborn disorder of pentose phosphate metabolism		Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
http://purl.obolibrary.org/obo/MONDO_0011625	autosomal dominant nonsyndromic hearing loss 18	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.
http://purl.obolibrary.org/obo/MONDO_0011628	propionic acidemia	http://purl.obolibrary.org/obo/MONDO_0019215	classic organic aciduria		An organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0011629	MOGS-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).
http://purl.obolibrary.org/obo/MONDO_0011630	retinitis pigmentosa 28	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.
http://purl.obolibrary.org/obo/MONDO_0011631	hemochromatosis type 4	http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis		A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.
http://purl.obolibrary.org/obo/MONDO_0011632	amyotrophic lateral sclerosis type 21	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.
http://purl.obolibrary.org/obo/MONDO_0011633	Charcot-Marie-Tooth disease axonal type 2C	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
http://purl.obolibrary.org/obo/MONDO_0011634	rippling muscle disease	http://purl.obolibrary.org/obo/MONDO_0005336	myopathy		A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch
http://purl.obolibrary.org/obo/MONDO_0011638	neuroferritinopathy	http://purl.obolibrary.org/obo/MONDO_0017763	disorder of iron metabolism and transport		Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.
http://purl.obolibrary.org/obo/MONDO_0011640	genitopatellar syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
http://purl.obolibrary.org/obo/MONDO_0011642	carnitine acetyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.
http://purl.obolibrary.org/obo/MONDO_0011644	pars planitis	http://purl.obolibrary.org/obo/MONDO_0006806	intermediate uveitis		An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.
http://purl.obolibrary.org/obo/MONDO_0011647	Alzheimer disease 7	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.
http://purl.obolibrary.org/obo/MONDO_0011650	atrioventricular septal defect, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.
http://purl.obolibrary.org/obo/MONDO_0011652	Phelan-McDermid syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene.
http://purl.obolibrary.org/obo/MONDO_0011655	alveolar soft part sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.
http://purl.obolibrary.org/obo/MONDO_0011657	autosomal dominant nonsyndromic hearing loss 24	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.
http://purl.obolibrary.org/obo/MONDO_0011658	autosomal recessive early-onset Parkinson disease 7	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.
http://purl.obolibrary.org/obo/MONDO_0011660	autosomal dominant nonsyndromic hearing loss 22	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.
http://purl.obolibrary.org/obo/MONDO_0011661	inflammatory bowel disease 5	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.
http://purl.obolibrary.org/obo/MONDO_0011662	pathological gambling	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.
http://purl.obolibrary.org/obo/MONDO_0011663	juvenile primary lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0100227	ALS2-related motor neuron disease		Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.
http://purl.obolibrary.org/obo/MONDO_0011667	maturity-onset diabetes of the young type 4	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.
http://purl.obolibrary.org/obo/MONDO_0011668	maturity-onset diabetes of the young type 6	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.
http://purl.obolibrary.org/obo/MONDO_0011669	hypotonia-cystinuria syndrome	http://purl.obolibrary.org/obo/MONDO_0016884	partial deletion of the short arm of chromosome 2		A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0011671	Huntington disease-like 2	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.
http://purl.obolibrary.org/obo/MONDO_0011672	persistent polyclonal B-cell lymphocytosis	http://purl.obolibrary.org/obo/MONDO_0015757	lymphoid hemopathy		Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0011673	autosomal dominant nonsyndromic hearing loss 30	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.
http://purl.obolibrary.org/obo/MONDO_0011674	Charcot-Marie-Tooth disease dominant intermediate B	http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease		Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
http://purl.obolibrary.org/obo/MONDO_0011675	Charcot-Marie-Tooth Disease, axonal, type 2GG	http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease		Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.
http://purl.obolibrary.org/obo/MONDO_0011679	craniosynostosis syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		Autosomal recessive form of craniosynostosis.
http://purl.obolibrary.org/obo/MONDO_0011680	autosomal recessive congenital ichthyosis 3	http://purl.obolibrary.org/obo/MONDO_0019306	congenital non-bullous ichthyosiform erythroderma		Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.
http://purl.obolibrary.org/obo/MONDO_0011681	episodic ataxia type 4	http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia		Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.
http://purl.obolibrary.org/obo/MONDO_0011682	episodic ataxia type 3	http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia		Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.
http://purl.obolibrary.org/obo/MONDO_0011683	oculocutaneous albinism type 4	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
http://purl.obolibrary.org/obo/MONDO_0011686	DNA ligase IV deficiency	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
http://purl.obolibrary.org/obo/MONDO_0011687	Charcot-Marie-Tooth disease axonal type 2F	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
http://purl.obolibrary.org/obo/MONDO_0011688	muscular dystrophy-dystroglycanopathy type B5	http://purl.obolibrary.org/obo/MONDO_0000172	muscular dystrophy-dystroglycanopathy, type B		A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
http://purl.obolibrary.org/obo/MONDO_0011690	Camurati-Engelmann disease type 2	http://purl.obolibrary.org/obo/MONDO_0007542	Camurati-Engelmann disease		Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0011697	Waardenburg syndrome type 2C	http://purl.obolibrary.org/obo/MONDO_0019517	Waardenburg syndrome type 2		A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.
http://purl.obolibrary.org/obo/MONDO_0011698	glycine N-methyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0000351	disorder of methionine catabolism		Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.
http://purl.obolibrary.org/obo/MONDO_0011699	inflammatory bowel disease 8	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.
http://purl.obolibrary.org/obo/MONDO_0011700	inflammatory bowel disease 6	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.
http://purl.obolibrary.org/obo/MONDO_0011701	inflammatory bowel disease 4	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.
http://purl.obolibrary.org/obo/MONDO_0011702	dilated cardiomyopathy 1L	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.
http://purl.obolibrary.org/obo/MONDO_0011705	lymphangioleiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0006359	neoplasm with perivascular epithelioid cell differentiation		A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.
http://purl.obolibrary.org/obo/MONDO_0011706	Kufor-Rakeb syndrome	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
http://purl.obolibrary.org/obo/MONDO_0011708	autosomal dominant nonsyndromic hearing loss 36	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.
http://purl.obolibrary.org/obo/MONDO_0011709	split hand-foot malformation 5	http://purl.obolibrary.org/obo/MONDO_0016576	split hand-foot malformation		Split-hand/foot malformation mapped to chromosome 2q31.
http://purl.obolibrary.org/obo/MONDO_0011712	van der Woude syndrome 2	http://purl.obolibrary.org/obo/MONDO_0019508	van der Woude syndrome		Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.
http://purl.obolibrary.org/obo/MONDO_0011715	Seckel syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.
http://purl.obolibrary.org/obo/MONDO_0011716	acute hemorrhagic leukoencephalitis	http://purl.obolibrary.org/obo/MONDO_0019383	acute disseminated encephalomyelitis		Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.
http://purl.obolibrary.org/obo/MONDO_0011717	hyperinsulinism-hyperammonemia syndrome	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.
http://purl.obolibrary.org/obo/MONDO_0011718	primary ciliary dyskinesia 2	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.
http://purl.obolibrary.org/obo/MONDO_0011719	gastrointestinal stromal tumor	http://purl.obolibrary.org/obo/MONDO_0018506	mesenchymal tumor of small intestine		Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
http://purl.obolibrary.org/obo/MONDO_0011723	hemifacial myohyperplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.
http://purl.obolibrary.org/obo/MONDO_0011725	Crigler-Najjar syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0009044	Crigler-Najjar syndrome		Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.
http://purl.obolibrary.org/obo/MONDO_0011728	benign essential blepharospasm	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		Involuntary twitching of the eyelid.
http://purl.obolibrary.org/obo/MONDO_0011730	fumaric aciduria	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
http://purl.obolibrary.org/obo/MONDO_0011731	glucose-galactose malabsorption	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.
http://purl.obolibrary.org/obo/MONDO_0011732	familial digital arthropathy-brachydactyly	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0011735	hyper-IgM syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0003947	hyper-IgM syndrome		A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.
http://purl.obolibrary.org/obo/MONDO_0011738	bilateral frontoparietal polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.
http://purl.obolibrary.org/obo/MONDO_0011740	Carney-Stratakis syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.
http://purl.obolibrary.org/obo/MONDO_0011743	Alzheimer disease 4	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
http://purl.obolibrary.org/obo/MONDO_0011744	primary intraosseous venous malformation	http://purl.obolibrary.org/obo/MONDO_0016223	infantile hemangioma of rare localization		Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.
http://purl.obolibrary.org/obo/MONDO_0011748	Usher syndrome type 1G	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.
http://purl.obolibrary.org/obo/MONDO_0011749	oculocutaneous albinism type 1B	http://purl.obolibrary.org/obo/MONDO_0008745	oculocutaneous albinism type 1A		Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.
http://purl.obolibrary.org/obo/MONDO_0011752	nephronophthisis 4	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.
http://purl.obolibrary.org/obo/MONDO_0011756	Senior-Loken syndrome 4	http://purl.obolibrary.org/obo/MONDO_0017842	Senior-Loken syndrome		Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.
http://purl.obolibrary.org/obo/MONDO_0011760	Scheie syndrome	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
http://purl.obolibrary.org/obo/MONDO_0011761	autosomal dominant nonsyndromic hearing loss 21	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.
http://purl.obolibrary.org/obo/MONDO_0011762	autosomal recessive nonsyndromic hearing loss 22	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.
http://purl.obolibrary.org/obo/MONDO_0011764	autosomal dominant Parkinson disease 8	http://purl.obolibrary.org/obo/MONDO_0008199	late-onset Parkinson disease		Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.
http://purl.obolibrary.org/obo/MONDO_0011765	multiple epiphyseal dysplasia type 5	http://purl.obolibrary.org/obo/MONDO_0016648	multiple epiphyseal dysplasia		Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.
http://purl.obolibrary.org/obo/MONDO_0011767	autosomal recessive nonsyndromic hearing loss 31	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.
http://purl.obolibrary.org/obo/MONDO_0011771	neuronopathy, distal hereditary motor, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.
http://purl.obolibrary.org/obo/MONDO_0011772	B4GALT1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
http://purl.obolibrary.org/obo/MONDO_0011773	anauxetic dysplasia	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.
http://purl.obolibrary.org/obo/MONDO_0011774	autosomal recessive nonsyndromic hearing loss 30	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.
http://purl.obolibrary.org/obo/MONDO_0011776	CINCA syndrome	http://purl.obolibrary.org/obo/MONDO_0002081	musculoskeletal system disorder		Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.
http://purl.obolibrary.org/obo/MONDO_0011777	Alzheimer disease 8	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.
http://purl.obolibrary.org/obo/MONDO_0011778	multiple epiphyseal dysplasia, Al-Gazali type	http://purl.obolibrary.org/obo/MONDO_0800463	KIF7-related ciliopathy		Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0011781	spinocerebellar ataxia type 17	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0011782	angioid streaks	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Small breaks in the elastin-filled tissue of the retina.
http://purl.obolibrary.org/obo/MONDO_0011783	ALG12-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).
http://purl.obolibrary.org/obo/MONDO_0011784	Moyamoya disease 2	http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease		Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.
http://purl.obolibrary.org/obo/MONDO_0011785	hereditary spastic paraplegia 19	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0011786	allergic rhinitis	http://purl.obolibrary.org/obo/MONDO_0003014	rhinitis		Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.
http://purl.obolibrary.org/obo/MONDO_0011787	autosomal recessive limb-girdle muscular dystrophy type 2I	http://purl.obolibrary.org/obo/MONDO_0700066	myopathy caused by variation in FKRP		A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.
http://purl.obolibrary.org/obo/MONDO_0011788	cloverleaf skull-multiple congenital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.
http://purl.obolibrary.org/obo/MONDO_0011789	familial meningioma	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A meningioma that is transmitted from the parents to an offspring.
http://purl.obolibrary.org/obo/MONDO_0011790	Amish lethal microcephaly	http://purl.obolibrary.org/obo/MONDO_0000152	thiamine-responsive dysfunction syndrome		Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.
http://purl.obolibrary.org/obo/MONDO_0011792	thyroid dyshormonogenesis 6	http://purl.obolibrary.org/obo/MONDO_0010132	familial thyroid dyshormonogenesis		Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.
http://purl.obolibrary.org/obo/MONDO_0011797	infantile-onset ascending hereditary spastic paralysis	http://purl.obolibrary.org/obo/MONDO_0100227	ALS2-related motor neuron disease		Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.
http://purl.obolibrary.org/obo/MONDO_0011799	autosomal recessive nonsyndromic hearing loss 33	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.
http://purl.obolibrary.org/obo/MONDO_0011801	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	http://purl.obolibrary.org/obo/MONDO_0020771	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy		Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.
http://purl.obolibrary.org/obo/MONDO_0011803	hereditary spastic paraplegia 7	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.
http://purl.obolibrary.org/obo/MONDO_0011804	autoimmune lymphoproliferative syndrome type 2B	http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome		Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
http://purl.obolibrary.org/obo/MONDO_0011806	osteofibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0011808	cataract 27	http://purl.obolibrary.org/obo/MONDO_0020376	early-onset nuclear cataract		A cataract that has material basis in mutation in the region 2p12.
http://purl.obolibrary.org/obo/MONDO_0011810	horizontal gaze palsy with progressive scoliosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
http://purl.obolibrary.org/obo/MONDO_0011811	autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	http://purl.obolibrary.org/obo/MONDO_0020047	autosomal recessive syndromic cerebellar ataxia		Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.
http://purl.obolibrary.org/obo/MONDO_0011812	Duane-radial ray syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0011816	lathosterolosis	http://purl.obolibrary.org/obo/MONDO_0045017	cholesterol biosynthetic process disease		Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
http://purl.obolibrary.org/obo/MONDO_0011819	spinocerebellar ataxia type 19/22	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.
http://purl.obolibrary.org/obo/MONDO_0011821	Meckel syndrome, type 3	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
http://purl.obolibrary.org/obo/MONDO_0011822	Bartter disease type 3	http://purl.obolibrary.org/obo/MONDO_0015231	Bartter syndrome		Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
http://purl.obolibrary.org/obo/MONDO_0011827	patent ductus arteriosus	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.
http://purl.obolibrary.org/obo/MONDO_0011828	intellectual disability, autosomal recessive 2	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.
http://purl.obolibrary.org/obo/MONDO_0011831	arrhythmogenic right ventricular dysplasia 8	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.
http://purl.obolibrary.org/obo/MONDO_0011832	autosomal dominant nonsyndromic hearing loss 44	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.
http://purl.obolibrary.org/obo/MONDO_0011833	spinocerebellar ataxia type 21	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.
http://purl.obolibrary.org/obo/MONDO_0011834	spinocerebellar ataxia type 18	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.
http://purl.obolibrary.org/obo/MONDO_0011837	vitamin K-dependent clotting factors, combined deficiency of, type 2	http://purl.obolibrary.org/obo/MONDO_0015722	congenital vitamin K-dependent coagulation factors deficiency		Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.
http://purl.obolibrary.org/obo/MONDO_0011838	Bothnia retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0100444	RLBP1-related retinopathy		A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.
http://purl.obolibrary.org/obo/MONDO_0011839	Newfoundland cone-rod dystrophy	http://purl.obolibrary.org/obo/MONDO_0100444	RLBP1-related retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.
http://purl.obolibrary.org/obo/MONDO_0011840	dilated cardiomyopathy 1M	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
http://purl.obolibrary.org/obo/MONDO_0011841	biotin-responsive basal ganglia disease	http://purl.obolibrary.org/obo/MONDO_0000152	thiamine-responsive dysfunction syndrome		Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness.
http://purl.obolibrary.org/obo/MONDO_0011842	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	http://purl.obolibrary.org/obo/MONDO_0019806	primary progressive aphasia		A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.
http://purl.obolibrary.org/obo/MONDO_0011843	hypertrophic cardiomyopathy 25	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.
http://purl.obolibrary.org/obo/MONDO_0011844	myoclonic dystonia 15	http://purl.obolibrary.org/obo/MONDO_0000903	myoclonus-dystonia syndrome		A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.
http://purl.obolibrary.org/obo/MONDO_0011847	migraine without aura, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		An inherited susceptibility or predisposition to developing migraines without aura.
http://purl.obolibrary.org/obo/MONDO_0011849	psoriatic arthritis	http://purl.obolibrary.org/obo/MONDO_0008383	rheumatoid arthritis		Joint inflammation associated with psoriasis.
http://purl.obolibrary.org/obo/MONDO_0011852	nonsyndromic congenital nail disorder 8	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.
http://purl.obolibrary.org/obo/MONDO_0011855	granular corneal dystrophy type II	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
http://purl.obolibrary.org/obo/MONDO_0011857	atrial fibrillation, familial, 3	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.
http://purl.obolibrary.org/obo/MONDO_0011862	hereditary spastic paraplegia 24	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.
http://purl.obolibrary.org/obo/MONDO_0011866	pontocerebellar hypoplasia type 1A	http://purl.obolibrary.org/obo/MONDO_0016396	pontocerebellar hypoplasia type 1		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.
http://purl.obolibrary.org/obo/MONDO_0011868	lethal congenital contracture syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
http://purl.obolibrary.org/obo/MONDO_0011869	epidermolysis bullosa simplex superficialis	http://purl.obolibrary.org/obo/MONDO_0015550	suprabasal epidermolysis bullosa simplex		Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.
http://purl.obolibrary.org/obo/MONDO_0011870	annular epidermolytic ichthyosis	http://purl.obolibrary.org/obo/MONDO_0020702	autosomal dominant epidermolytic ichthyosis		Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.
http://purl.obolibrary.org/obo/MONDO_0011871	Niemann-Pick disease type B	http://purl.obolibrary.org/obo/MONDO_0100464	acid sphingomyelinase deficiency		Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
http://purl.obolibrary.org/obo/MONDO_0011872	Griscelli syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.
http://purl.obolibrary.org/obo/MONDO_0011873	Niemann-Pick disease, type C2	http://purl.obolibrary.org/obo/MONDO_0018982	Niemann-Pick disease type C		Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0011874	neonatal ichthyosis-sclerosing cholangitis syndrome	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
http://purl.obolibrary.org/obo/MONDO_0011877	autosomal dominant osteopetrosis 1	http://purl.obolibrary.org/obo/MONDO_0020645	autosomal dominant osteopetrosis		Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
http://purl.obolibrary.org/obo/MONDO_0011879	neuronopathy, distal hereditary motor, type 7B	http://purl.obolibrary.org/obo/MONDO_0100624	DCTN1-related neurodegeneration		Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.
http://purl.obolibrary.org/obo/MONDO_0011881	keratosis palmoplantaris striata 3	http://purl.obolibrary.org/obo/MONDO_0018865	striate palmoplantar keratoderma		Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.
http://purl.obolibrary.org/obo/MONDO_0011883	Curly hair - acral keratoderma - caries syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.
http://purl.obolibrary.org/obo/MONDO_0011884	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.
http://purl.obolibrary.org/obo/MONDO_0011886	torsion dystonia 13	http://purl.obolibrary.org/obo/MONDO_0015990	focal, segmental or multifocal dystonia		DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.
http://purl.obolibrary.org/obo/MONDO_0011888	immunodeficiency 67	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.
http://purl.obolibrary.org/obo/MONDO_0011889	Charcot-Marie-Tooth disease type 2I	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.
http://purl.obolibrary.org/obo/MONDO_0011890	Charcot-Marie-Tooth disease type 1D	http://purl.obolibrary.org/obo/MONDO_0019011	Charcot-Marie-Tooth disease type 1		A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
http://purl.obolibrary.org/obo/MONDO_0011894	Charcot-Marie-Tooth disease type 2E	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.
http://purl.obolibrary.org/obo/MONDO_0011897	leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0700282	POLR3-related leukodystrophy		A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
http://purl.obolibrary.org/obo/MONDO_0011901	Charcot-Marie-Tooth disease axonal type 2H	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
http://purl.obolibrary.org/obo/MONDO_0011902	Charcot-Marie-Tooth disease type 1F	http://purl.obolibrary.org/obo/MONDO_0019011	Charcot-Marie-Tooth disease type 1		A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..
http://purl.obolibrary.org/obo/MONDO_0011903	Charcot-Marie-Tooth disease type 2J	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
http://purl.obolibrary.org/obo/MONDO_0011906	congenital bile acid synthesis defect 1	http://purl.obolibrary.org/obo/MONDO_0018841	congenital bile acid synthesis defect		Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.
http://purl.obolibrary.org/obo/MONDO_0011907	acrocapitofemoral dysplasia	http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia		Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
http://purl.obolibrary.org/obo/MONDO_0011908	juvenile myelomonocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0020311	chronic myelomonocytic leukemia		A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0011909	Charcot-Marie-Tooth disease dominant intermediate D	http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease		Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
http://purl.obolibrary.org/obo/MONDO_0011911	craniolenticulosutural dysplasia	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0011912	autosomal recessive nonsyndromic hearing loss 37	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.
http://purl.obolibrary.org/obo/MONDO_0011913	Alzheimer disease 3	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.
http://purl.obolibrary.org/obo/MONDO_0011916	Charcot-Marie-Tooth disease axonal type 2K	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
http://purl.obolibrary.org/obo/MONDO_0011925	congenital merosin-deficient muscular dystrophy 1A	http://purl.obolibrary.org/obo/MONDO_0100228	LAMA2-related muscular dystrophy		Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.
http://purl.obolibrary.org/obo/MONDO_0011927	tufted angioma	http://purl.obolibrary.org/obo/MONDO_0003110	skin hemangioma		Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.
http://purl.obolibrary.org/obo/MONDO_0011928	caudal duplication	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
http://purl.obolibrary.org/obo/MONDO_0011929	chromosome 1p36 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016883	partial deletion of the short arm of chromosome 1		A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
http://purl.obolibrary.org/obo/MONDO_0011932	hypotrichosis 6	http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex		Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.
http://purl.obolibrary.org/obo/MONDO_0011934	dermatofibrosarcoma protuberans	http://purl.obolibrary.org/obo/MONDO_0005164	fibrosarcoma		Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
http://purl.obolibrary.org/obo/MONDO_0011935	retinitis pigmentosa 30	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.
http://purl.obolibrary.org/obo/MONDO_0011936	microphthalmia with brain and digit anomalies	http://purl.obolibrary.org/obo/MONDO_0100613	BMP4-related ocular growth disorder		Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
http://purl.obolibrary.org/obo/MONDO_0011938	atrial septal defect 2	http://purl.obolibrary.org/obo/MONDO_0100009	structural congenital heart disease, multiple types - GATA4		Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.
http://purl.obolibrary.org/obo/MONDO_0011945	Gaucher disease perinatal lethal	http://purl.obolibrary.org/obo/MONDO_0018150	Gaucher disease		Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).
http://purl.obolibrary.org/obo/MONDO_0011946	diaphanospondylodysostosis	http://purl.obolibrary.org/obo/MONDO_0019694	spondylodysplastic dysplasia		Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.
http://purl.obolibrary.org/obo/MONDO_0011948	pontocerebellar hypoplasia type 3	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.
http://purl.obolibrary.org/obo/MONDO_0011951	amyotrophic lateral sclerosis type 6	http://purl.obolibrary.org/obo/MONDO_0017161	frontotemporal dementia with motor neuron disease		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.
http://purl.obolibrary.org/obo/MONDO_0011959	sweet syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.
http://purl.obolibrary.org/obo/MONDO_0011962	endometrial cancer	http://purl.obolibrary.org/obo/MONDO_0021251	endometrium neoplasm		Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).
http://purl.obolibrary.org/obo/MONDO_0011963	Joubert syndrome 2	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
http://purl.obolibrary.org/obo/MONDO_0011964	DPAGT1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
http://purl.obolibrary.org/obo/MONDO_0011965	familial temporal lobe epilepsy 2	http://purl.obolibrary.org/obo/MONDO_0005115	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.
http://purl.obolibrary.org/obo/MONDO_0011968	autosomal recessive limb-girdle muscular dystrophy type 2D	http://purl.obolibrary.org/obo/MONDO_0016141	qualitative or quantitative defects of alpha-sarcoglycan		Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
http://purl.obolibrary.org/obo/MONDO_0011969	ALG8-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.
http://purl.obolibrary.org/obo/MONDO_0011971	hyper-IgM syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0003947	hyper-IgM syndrome		Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.
http://purl.obolibrary.org/obo/MONDO_0011972	ovarian hyperstimulation syndrome	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.
http://purl.obolibrary.org/obo/MONDO_0011974	retinitis pigmentosa 7	http://purl.obolibrary.org/obo/MONDO_1040055	PRPH2-related retinopathy		A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported.
http://purl.obolibrary.org/obo/MONDO_0011976	lipodystrophy-intellectual disability-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0020087	hereditary lipodystrophy		Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0011977	8q22.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
http://purl.obolibrary.org/obo/MONDO_0011985	hyper-IgM syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0003947	hyper-IgM syndrome		A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.
http://purl.obolibrary.org/obo/MONDO_0011986	tropical pancreatitis	http://purl.obolibrary.org/obo/MONDO_0008185	hereditary chronic pancreatitis		Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.
http://purl.obolibrary.org/obo/MONDO_0011987	cone-rod dystrophy 13	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.
http://purl.obolibrary.org/obo/MONDO_0011988	neutrophil immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
http://purl.obolibrary.org/obo/MONDO_0011989	leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).
http://purl.obolibrary.org/obo/MONDO_0011991	autosomal recessive nonsyndromic hearing loss 38	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.
http://purl.obolibrary.org/obo/MONDO_0011992	hereditary spastic paraplegia 25	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.
http://purl.obolibrary.org/obo/MONDO_0011994	autosomal dominant nonsyndromic hearing loss 41	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.
http://purl.obolibrary.org/obo/MONDO_0011995	cataract - congenital heart disease - neural tube defect syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.
http://purl.obolibrary.org/obo/MONDO_0011996	chronic myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.
http://purl.obolibrary.org/obo/MONDO_0011997	Hermansky-Pudlak syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
http://purl.obolibrary.org/obo/MONDO_0011998	autosomal dominant slowed nerve conduction velocity	http://purl.obolibrary.org/obo/MONDO_0015358	hereditary motor and sensory neuropathy		Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.
http://purl.obolibrary.org/obo/MONDO_0012000	specific phobia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.
http://purl.obolibrary.org/obo/MONDO_0012002	autosomal recessive nonsyndromic hearing loss 40	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.
http://purl.obolibrary.org/obo/MONDO_0012003	autosomal recessive nonsyndromic hearing loss 39	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.
http://purl.obolibrary.org/obo/MONDO_0012004	parathyroid gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0021311	malignant tumor of parathyroid gland		A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.
http://purl.obolibrary.org/obo/MONDO_0012008	Lelis syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
http://purl.obolibrary.org/obo/MONDO_0012011	coronary artery disease, autosomal dominant, 1	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.
http://purl.obolibrary.org/obo/MONDO_0012012	Charcot-Marie-Tooth disease dominant intermediate C	http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease		Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.
http://purl.obolibrary.org/obo/MONDO_0012014	Charcot-Marie-Tooth disease recessive intermediate A	http://purl.obolibrary.org/obo/MONDO_0017058	autosomal recessive intermediate Charcot-Marie-Tooth disease		Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
http://purl.obolibrary.org/obo/MONDO_0012016	capillary malformation-arteriovenous malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
http://purl.obolibrary.org/obo/MONDO_0012019	spondyloepiphyseal dysplasia, Kimberley type	http://purl.obolibrary.org/obo/MONDO_1060149	ACAN-related short stature spectrum		A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy.
http://purl.obolibrary.org/obo/MONDO_0012020	chromosome 22q11.2 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016972	partial duplication of the long arm of chromosome 22		The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.
http://purl.obolibrary.org/obo/MONDO_0012023	autosomal dominant nonsyndromic hearing loss 49	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.
http://purl.obolibrary.org/obo/MONDO_0012024	retinitis pigmentosa 26	http://purl.obolibrary.org/obo/MONDO_0800401	CERKL-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.
http://purl.obolibrary.org/obo/MONDO_0012025	branchiootic syndrome 3	http://purl.obolibrary.org/obo/MONDO_0018878	branchiootic syndrome		Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.
http://purl.obolibrary.org/obo/MONDO_0012029	microcephaly 6, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0700054	microcephaly 6 with or without short stature		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.
http://purl.obolibrary.org/obo/MONDO_0012030	autosomal dominant nonsyndromic hearing loss 43	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.
http://purl.obolibrary.org/obo/MONDO_0012031	platelet-type bleeding disorder 10	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.
http://purl.obolibrary.org/obo/MONDO_0012032	Braddock syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.
http://purl.obolibrary.org/obo/MONDO_0012033	bradyopsia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.
http://purl.obolibrary.org/obo/MONDO_0012034	autosomal dominant limb-girdle muscular dystrophy type 1F	http://purl.obolibrary.org/obo/MONDO_0015151	muscular dystrophy, limb-girdle, autosomal dominant		Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.
http://purl.obolibrary.org/obo/MONDO_0012035	craniosynostosis-intracranial calcifications syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0012037	intellectual disability, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.
http://purl.obolibrary.org/obo/MONDO_0012040	inflammatory bowel disease 9	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.
http://purl.obolibrary.org/obo/MONDO_0012041	familial adenomatous polyposis 2	http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis		An autosomal recessive hereditary cancer predisposition disorder caused by pathogenic variants in the MUTYH gene. It is characterized by an increased risk of colorectal adenomatous polyposis and carcinomas.
http://purl.obolibrary.org/obo/MONDO_0012043	Reis-Bucklers corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.
http://purl.obolibrary.org/obo/MONDO_0012048	endogenous depression	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Depression which is considered strictly biological.
http://purl.obolibrary.org/obo/MONDO_0012052	ALG1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
http://purl.obolibrary.org/obo/MONDO_0012055	Larsen-like osseous dysplasia-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0012056	Leber congenital amaurosis 9	http://purl.obolibrary.org/obo/MONDO_0800101	NMNAT1-related retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.
http://purl.obolibrary.org/obo/MONDO_0012060	autosomal recessive nonsyndromic hearing loss 35	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.
http://purl.obolibrary.org/obo/MONDO_0012061	familial sick sinus syndrome	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.
http://purl.obolibrary.org/obo/MONDO_0012062	dilated cardiomyopathy 1O	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.
http://purl.obolibrary.org/obo/MONDO_0012063	ulnar/fibula ray defect-brachydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0012064	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.
http://purl.obolibrary.org/obo/MONDO_0012071	congenital generalized lipodystrophy type 1	http://purl.obolibrary.org/obo/MONDO_0018883	Berardinelli-Seip congenital lipodystrophy		Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.
http://purl.obolibrary.org/obo/MONDO_0012073	ribose-5-P isomerase deficiency	http://purl.obolibrary.org/obo/MONDO_0019231	inborn disorder of pentose phosphate metabolism		Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
http://purl.obolibrary.org/obo/MONDO_0012077	amyotrophic lateral sclerosis type 8	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.
http://purl.obolibrary.org/obo/MONDO_0012078	Joubert syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016364	Joubert syndrome with ocular defect		Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.
http://purl.obolibrary.org/obo/MONDO_0012083	autosomal dominant nonsyndromic hearing loss 28	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.
http://purl.obolibrary.org/obo/MONDO_0012084	aromatic L-amino acid decarboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0017759	disorder of catecholamine synthesis		Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
http://purl.obolibrary.org/obo/MONDO_0012085	primary ciliary dyskinesia 3	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.
http://purl.obolibrary.org/obo/MONDO_0012086	autosomal dominant nonsyndromic hearing loss 31	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.
http://purl.obolibrary.org/obo/MONDO_0012087	primary ciliary dyskinesia 4	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.
http://purl.obolibrary.org/obo/MONDO_0012088	primary ciliary dyskinesia 5	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.
http://purl.obolibrary.org/obo/MONDO_0012089	ichthyosis prematurity syndrome	http://purl.obolibrary.org/obo/MONDO_0043905	pneumonitis		Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.
http://purl.obolibrary.org/obo/MONDO_0012090	autosomal dominant nonsyndromic hearing loss 47	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.
http://purl.obolibrary.org/obo/MONDO_0012091	autosomal recessive nonsyndromic hearing loss 32	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.
http://purl.obolibrary.org/obo/MONDO_0012095	intellectual disability-brachydactyly-Pierre Robin syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
http://purl.obolibrary.org/obo/MONDO_0012096	Charcot-Marie-Tooth disease axonal type 2L	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
http://purl.obolibrary.org/obo/MONDO_0012098	spinocerebellar ataxia type 20	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.
http://purl.obolibrary.org/obo/MONDO_0012099	AICA-ribosiduria	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
http://purl.obolibrary.org/obo/MONDO_0012103	spinocerebellar ataxia type 25	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
http://purl.obolibrary.org/obo/MONDO_0012104	acquired partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0027767	partial lipodystrophy		A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.
http://purl.obolibrary.org/obo/MONDO_0012105	granulomatosis with polyangiitis	http://purl.obolibrary.org/obo/MONDO_0015492	anti-neutrophil cytoplasmic antibody-associated vasculitis		A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.
http://purl.obolibrary.org/obo/MONDO_0012106	microcephaly 5, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.
http://purl.obolibrary.org/obo/MONDO_0012108	spondyloepimetaphyseal dysplasia, matrilin-3 type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
http://purl.obolibrary.org/obo/MONDO_0012110	growth delay due to insulin-like growth factor type 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015892	growth hormone insensitivity syndrome		Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0012111	hypertrophic cardiomyopathy 8	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.
http://purl.obolibrary.org/obo/MONDO_0012112	hypertrophic cardiomyopathy 10	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.
http://purl.obolibrary.org/obo/MONDO_0012116	spinocerebellar ataxia type 8	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.
http://purl.obolibrary.org/obo/MONDO_0012117	ALG9-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).
http://purl.obolibrary.org/obo/MONDO_0012118	COG7-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0017750	defect in conserved oligomeric Golgi complex		COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
http://purl.obolibrary.org/obo/MONDO_0012120	pyruvate dehydrogenase phosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	pyruvate dehydrogenase deficiency		Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
http://purl.obolibrary.org/obo/MONDO_0012123	congenital disorder of glycosylation type 1E	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
http://purl.obolibrary.org/obo/MONDO_0012125	hypomyelinating leukodystrophy 2	http://purl.obolibrary.org/obo/MONDO_0017226	Pelizaeus-Merzbacher-like disease		Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.
http://purl.obolibrary.org/obo/MONDO_0012126	familial avascular necrosis of femoral head	http://purl.obolibrary.org/obo/MONDO_0018379	primary avascular necrosis		Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.
http://purl.obolibrary.org/obo/MONDO_0012127	autosomal recessive limb-girdle muscular dystrophy type 2J	http://purl.obolibrary.org/obo/MONDO_0100493	autosomal recessive titinopathy		Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
http://purl.obolibrary.org/obo/MONDO_0012130	myofibrillar myopathy 2	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
http://purl.obolibrary.org/obo/MONDO_0012138	muscular dystrophy-dystroglycanopathy type B6	http://purl.obolibrary.org/obo/MONDO_0000172	muscular dystrophy-dystroglycanopathy, type B		A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
http://purl.obolibrary.org/obo/MONDO_0012142	orofacial cleft 5	http://purl.obolibrary.org/obo/MONDO_0016044	cleft lip/palate		Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.
http://purl.obolibrary.org/obo/MONDO_0012144	Waardenburg syndrome type 2D	http://purl.obolibrary.org/obo/MONDO_0019517	Waardenburg syndrome type 2		Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.
http://purl.obolibrary.org/obo/MONDO_0012145	macular degeneration, age-related, 3	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.
http://purl.obolibrary.org/obo/MONDO_0012146	familial hemophagocytic lymphohistiocytosis 3	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.
http://purl.obolibrary.org/obo/MONDO_0012154	myopia 6	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		Any myopia in which the cause of the disease is a mutation in the SCO2 gene.
http://purl.obolibrary.org/obo/MONDO_0012155	choanal atresia	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.
http://purl.obolibrary.org/obo/MONDO_0012156	myasthenic syndrome, congenital, 1B, fast-channel	http://purl.obolibrary.org/obo/MONDO_0011088	congenital myasthenic syndrome 1A		A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.
http://purl.obolibrary.org/obo/MONDO_0012157	congenital myasthenic syndrome 4C	http://purl.obolibrary.org/obo/MONDO_1040021	congenital myasthenic syndrome 4		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
http://purl.obolibrary.org/obo/MONDO_0012161	susceptibility to respiratory infections associated with CD8alpha chain mutation	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.
http://purl.obolibrary.org/obo/MONDO_0012162	patterned macular dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0020381	patterned macular dystrophy		Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.
http://purl.obolibrary.org/obo/MONDO_0012163	immunodeficiency 104	http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency		A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
http://purl.obolibrary.org/obo/MONDO_0012165	BNAR syndrome	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.
http://purl.obolibrary.org/obo/MONDO_0012170	autosomal recessive nonsyndromic hearing loss 36	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.
http://purl.obolibrary.org/obo/MONDO_0012172	mitochondrial trifunctional protein deficiency	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..
http://purl.obolibrary.org/obo/MONDO_0012175	cataract 28	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract that has material basis in variation in the region 6p12-q12.
http://purl.obolibrary.org/obo/MONDO_0012176	Emanuel syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
http://purl.obolibrary.org/obo/MONDO_0012180	arrhythmogenic right ventricular dysplasia 9	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.
http://purl.obolibrary.org/obo/MONDO_0012181	hereditary spastic paraplegia 27	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.
http://purl.obolibrary.org/obo/MONDO_0012184	Pierson syndrome	http://purl.obolibrary.org/obo/MONDO_0013621	LAMB2-related infantile-onset nephrotic syndrome		Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.
http://purl.obolibrary.org/obo/MONDO_0012186	Fanconi anemia complementation group I	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.
http://purl.obolibrary.org/obo/MONDO_0012187	Fanconi anemia complementation group J	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.
http://purl.obolibrary.org/obo/MONDO_0012188	neuronal ceroid lipofuscinosis 9	http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis		Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
http://purl.obolibrary.org/obo/MONDO_0012191	hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.
http://purl.obolibrary.org/obo/MONDO_0012192	permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
http://purl.obolibrary.org/obo/MONDO_0012193	autosomal dominant limb-girdle muscular dystrophy type 1G	http://purl.obolibrary.org/obo/MONDO_0015151	muscular dystrophy, limb-girdle, autosomal dominant		Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.
http://purl.obolibrary.org/obo/MONDO_0012195	arthrogryposis-severe scoliosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.
http://purl.obolibrary.org/obo/MONDO_0012196	autosomal dominant auditory neuropathy 1	http://purl.obolibrary.org/obo/MONDO_0021944	auditory neuropathy		Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.
http://purl.obolibrary.org/obo/MONDO_0012197	idiopathic aplastic anemia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Aplastic anemia without a known cause.
http://purl.obolibrary.org/obo/MONDO_0012198	PCWH syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0012199	posterior polymorphous corneal dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0020364	posterior polymorphous corneal dystrophy		Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
http://purl.obolibrary.org/obo/MONDO_0012200	posterior polymorphous corneal dystrophy 3	http://purl.obolibrary.org/obo/MONDO_0020364	posterior polymorphous corneal dystrophy		Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.
http://purl.obolibrary.org/obo/MONDO_0012204	familial pseudohyperkalemia	http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia		An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.
http://purl.obolibrary.org/obo/MONDO_0012206	spondyloepiphyseal dysplasia with metatarsal shortening	http://purl.obolibrary.org/obo/MONDO_0100602	COL2A1-related spondyloepiphyseal dysplasia		A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.
http://purl.obolibrary.org/obo/MONDO_0012209	branchiogenic deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.
http://purl.obolibrary.org/obo/MONDO_0012211	MPDU1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
http://purl.obolibrary.org/obo/MONDO_0012213	hereditary spastic paraplegia 26	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
http://purl.obolibrary.org/obo/MONDO_0012215	myofibrillar myopathy 3	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
http://purl.obolibrary.org/obo/MONDO_0012220	Griscelli syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0018306	Griscelli syndrome		A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.
http://purl.obolibrary.org/obo/MONDO_0012225	Senior-Loken syndrome 5	http://purl.obolibrary.org/obo/MONDO_0017842	Senior-Loken syndrome		Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.
http://purl.obolibrary.org/obo/MONDO_0012231	Charcot-Marie-Tooth disease type 2A2	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.
http://purl.obolibrary.org/obo/MONDO_0012235	autosomal recessive spinocerebellar ataxia 7	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0012237	nemaline myopathy 6	http://purl.obolibrary.org/obo/MONDO_0015738	childhood-onset nemaline myopathy		Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.
http://purl.obolibrary.org/obo/MONDO_0012238	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0008003	autosomal dominant progressive external ophthalmoplegia		Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.
http://purl.obolibrary.org/obo/MONDO_0012239	congenital myopathy 4B, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100108	TPM3-related myopathy		Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.
http://purl.obolibrary.org/obo/MONDO_0012240	congenital myopathy 23	http://purl.obolibrary.org/obo/MONDO_0100196	TPM2-related myopathy		Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.
http://purl.obolibrary.org/obo/MONDO_0012241	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0008003	autosomal dominant progressive external ophthalmoplegia		Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.
http://purl.obolibrary.org/obo/MONDO_0012246	spinocerebellar ataxia type 26	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
http://purl.obolibrary.org/obo/MONDO_0012247	spinocerebellar ataxia type 27	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
http://purl.obolibrary.org/obo/MONDO_0012248	autosomal recessive limb-girdle muscular dystrophy type 2K	http://purl.obolibrary.org/obo/MONDO_0000173	muscular dystrophy-dystroglycanopathy, type C		Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
http://purl.obolibrary.org/obo/MONDO_0012250	Charcot-Marie-Tooth disease type 4H	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy
http://purl.obolibrary.org/obo/MONDO_0012251	MEDNIK syndrome	http://purl.obolibrary.org/obo/MONDO_0017762	disorder of copper metabolism		MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).
http://purl.obolibrary.org/obo/MONDO_0012253	multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	http://purl.obolibrary.org/obo/MONDO_0016648	multiple epiphyseal dysplasia		Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.
http://purl.obolibrary.org/obo/MONDO_0012254	multiple epiphyseal dysplasia, with miniepiphyses	http://purl.obolibrary.org/obo/MONDO_0016648	multiple epiphyseal dysplasia		Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.
http://purl.obolibrary.org/obo/MONDO_0012256	hereditary spastic paraplegia 28	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
http://purl.obolibrary.org/obo/MONDO_0012258	epidermolysis bullosa simplex 2E, with migratory circinate erythema	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.
http://purl.obolibrary.org/obo/MONDO_0012259	colloid cysts of third ventricle	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.
http://purl.obolibrary.org/obo/MONDO_0012260	cataract 35	http://purl.obolibrary.org/obo/MONDO_0020376	early-onset nuclear cataract		A cataract that has material basis in variation in the region 19q13.
http://purl.obolibrary.org/obo/MONDO_0012266	preeclampsia/eclampsia 4	http://purl.obolibrary.org/obo/MONDO_0005081	preeclampsia		Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.
http://purl.obolibrary.org/obo/MONDO_0012267	holoprosencephaly 8	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		A holoprosencephaly that has material basis in variation in the chromosome region 14q13.
http://purl.obolibrary.org/obo/MONDO_0012269	chromosome 3q29 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016902	partial deletion of the long arm of chromosome 3		3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0012271	mesoaxial synostotic syndactyly with phalangeal reduction	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.
http://purl.obolibrary.org/obo/MONDO_0012273	autosomal recessive nonsyndromic hearing loss 48	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.
http://purl.obolibrary.org/obo/MONDO_0012275	fetal valproate syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).
http://purl.obolibrary.org/obo/MONDO_0012276	generalized epilepsy-paroxysmal dyskinesia syndrome	http://purl.obolibrary.org/obo/MONDO_0017704	familial partial epilepsy		Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0012277	myofibrillar myopathy 4	http://purl.obolibrary.org/obo/MONDO_0016190	qualitative or quantitative defects of protein ZASP		Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.
http://purl.obolibrary.org/obo/MONDO_0012280	Goldberg-Shprintzen syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
http://purl.obolibrary.org/obo/MONDO_0012282	Al-Gazali syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.
http://purl.obolibrary.org/obo/MONDO_0012289	myofibrillar myopathy 5	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0012290	CEDNIK syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
http://purl.obolibrary.org/obo/MONDO_0012291	immunoglobulin A deficiency 2	http://purl.obolibrary.org/obo/MONDO_0001341	selective IgA deficiency disease		Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.
http://purl.obolibrary.org/obo/MONDO_0012293	autosomal recessive nonsyndromic hearing loss 23	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.
http://purl.obolibrary.org/obo/MONDO_0012295	complement component 5 deficiency	http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency		A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.
http://purl.obolibrary.org/obo/MONDO_0012296	lipomyelomeningocele	http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect		Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.
http://purl.obolibrary.org/obo/MONDO_0012297	spastic paraplegia, optic atropy, and neuropathy	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.
http://purl.obolibrary.org/obo/MONDO_0012299	nanophthalmos 2	http://purl.obolibrary.org/obo/MONDO_0005514	nanophthalmia		Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.
http://purl.obolibrary.org/obo/MONDO_0012301	mitochondrial DNA depletion syndrome, myopathic form	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood.
http://purl.obolibrary.org/obo/MONDO_0012307	familial scaphocephaly syndrome, McGillivray type	http://purl.obolibrary.org/obo/MONDO_0015704	familial scaphocephaly syndrome		Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0012308	Joubert syndrome with renal defect	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
http://purl.obolibrary.org/obo/MONDO_0012309	parietal foramina 2	http://purl.obolibrary.org/obo/MONDO_0018953	parietal foramina		Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.
http://purl.obolibrary.org/obo/MONDO_0012315	distal 10q deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016909	partial monosomy of the long arm of chromosome 10		Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0012316	Majeed syndrome	http://purl.obolibrary.org/obo/MONDO_0009813	chronic recurrent multifocal osteomyelitis		Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.
http://purl.obolibrary.org/obo/MONDO_0012320	migraine, familial hemiplegic, 3	http://purl.obolibrary.org/obo/MONDO_0000700	familial hemiplegic migraine		Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.
http://purl.obolibrary.org/obo/MONDO_0012321	Alzheimer disease 10	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.
http://purl.obolibrary.org/obo/MONDO_0012322	holoprosencephaly 5	http://purl.obolibrary.org/obo/MONDO_0019757	alobar holoprosencephaly		Holoprosencephaly associated with mutations in the ZIC2 gene.
http://purl.obolibrary.org/obo/MONDO_0012323	lethal acantholytic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0015550	suprabasal epidermolysis bullosa simplex		Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.
http://purl.obolibrary.org/obo/MONDO_0012324	Frias syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.
http://purl.obolibrary.org/obo/MONDO_0012326	autosomal recessive nonsyndromic hearing loss 42	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.
http://purl.obolibrary.org/obo/MONDO_0012327	autosomal recessive nonsyndromic hearing loss 46	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.
http://purl.obolibrary.org/obo/MONDO_0012330	talo-patello-scaphoid osteolysis	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0012333	autosomal recessive nonsyndromic hearing loss 53	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.
http://purl.obolibrary.org/obo/MONDO_0012334	hereditary spastic paraplegia 29	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
http://purl.obolibrary.org/obo/MONDO_0012335	obesity due to pro-opiomelanocortin deficiency	http://purl.obolibrary.org/obo/MONDO_0019182	inherited obesity		Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
http://purl.obolibrary.org/obo/MONDO_0012336	cataract 22 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.
http://purl.obolibrary.org/obo/MONDO_0012342	7q11.23 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016958	partial duplication of the long arm of chromosome 7		7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.
http://purl.obolibrary.org/obo/MONDO_0012344	Alzheimer disease 11	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.
http://purl.obolibrary.org/obo/MONDO_0012345	acral peeling skin syndrome	http://purl.obolibrary.org/obo/MONDO_0019347	peeling skin syndrome		Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
http://purl.obolibrary.org/obo/MONDO_0012348	maturity-onset diabetes of the young type 8	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.
http://purl.obolibrary.org/obo/MONDO_0012353	erythrocytosis, familial, 3	http://purl.obolibrary.org/obo/MONDO_0001115	familial polycythemia		Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.
http://purl.obolibrary.org/obo/MONDO_0012354	platelet-type bleeding disorder 8	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
http://purl.obolibrary.org/obo/MONDO_0012355	autosomal recessive nonsyndromic hearing loss 28	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0012359	combined immunodeficiency due to partial RAG1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
http://purl.obolibrary.org/obo/MONDO_0012362	dilated cardiomyopathy 1P	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.
http://purl.obolibrary.org/obo/MONDO_0012363	retinitis pigmentosa 32	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.
http://purl.obolibrary.org/obo/MONDO_0012364	dilated cardiomyopathy 1Q	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.
http://purl.obolibrary.org/obo/MONDO_0012367	retinitis pigmentosa 31	http://purl.obolibrary.org/obo/MONDO_0700233	TOPORS-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.
http://purl.obolibrary.org/obo/MONDO_0012370	autosomal recessive nonsyndromic hearing loss 51	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.
http://purl.obolibrary.org/obo/MONDO_0012371	Noonan syndrome 3	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.
http://purl.obolibrary.org/obo/MONDO_0012375	autosomal recessive nonsyndromic hearing loss 47	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.
http://purl.obolibrary.org/obo/MONDO_0012376	autosomal recessive nonsyndromic hearing loss 55	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.
http://purl.obolibrary.org/obo/MONDO_0012380	autosomal dominant nonsyndromic hearing loss 53	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.
http://purl.obolibrary.org/obo/MONDO_0012382	hyperinsulinemic hypoglycemia, familial, 4	http://purl.obolibrary.org/obo/MONDO_0015624	diazoxide-sensitive diffuse hyperinsulinism		Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.
http://purl.obolibrary.org/obo/MONDO_0012383	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21.
http://purl.obolibrary.org/obo/MONDO_0012387	osteosclerosis-ichthyosis-premature ovarian failure syndrome	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.
http://purl.obolibrary.org/obo/MONDO_0012391	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	http://purl.obolibrary.org/obo/MONDO_0015653	monogenic epilepsy		Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
http://purl.obolibrary.org/obo/MONDO_0012392	2-methylbutyryl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0019215	classic organic aciduria		A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.
http://purl.obolibrary.org/obo/MONDO_0012394	multiple synostoses syndrome 2	http://purl.obolibrary.org/obo/MONDO_0017923	multiple synostoses syndrome		Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.
http://purl.obolibrary.org/obo/MONDO_0012395	cataract 18	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.
http://purl.obolibrary.org/obo/MONDO_0012396	exercise-induced hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0017706	disorder of carbohydrate transmembrane transport and absorption		Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.
http://purl.obolibrary.org/obo/MONDO_0012398	achromatopsia 6	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Any achromatopsia caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive.
http://purl.obolibrary.org/obo/MONDO_0012399	complex cortical dysplasia with other brain malformations 7	http://purl.obolibrary.org/obo/MONDO_0016162	bilateral frontal polymicrogyria		Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.
http://purl.obolibrary.org/obo/MONDO_0012400	cortical dysplasia-focal epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0016377	Pitt-Hopkins-like syndrome		An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.
http://purl.obolibrary.org/obo/MONDO_0012401	congenital stromal corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
http://purl.obolibrary.org/obo/MONDO_0012405	polyposis syndrome, hereditary mixed, 2	http://purl.obolibrary.org/obo/MONDO_0011023	hereditary mixed polyposis syndrome		Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.
http://purl.obolibrary.org/obo/MONDO_0012407	pyridoxal phosphate-responsive seizures	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
http://purl.obolibrary.org/obo/MONDO_0012409	isolated microphthalmia 2	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.
http://purl.obolibrary.org/obo/MONDO_0012411	giant axonal neuropathy 2	http://purl.obolibrary.org/obo/MONDO_0000128	giant axonal neuropathy		Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.
http://purl.obolibrary.org/obo/MONDO_0012412	complement component 7 deficiency	http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency		Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.
http://purl.obolibrary.org/obo/MONDO_0012414	neuronal ceroid lipofuscinosis 10	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
http://purl.obolibrary.org/obo/MONDO_0012415	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	http://purl.obolibrary.org/obo/MONDO_0008003	autosomal dominant progressive external ophthalmoplegia		Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.
http://purl.obolibrary.org/obo/MONDO_0012417	heart-hand syndrome, Slovenian type	http://purl.obolibrary.org/obo/MONDO_0016432	heart-hand syndrome		A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
http://purl.obolibrary.org/obo/MONDO_0012418	autosomal recessive nonsyndromic hearing loss 62	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.
http://purl.obolibrary.org/obo/MONDO_0012419	age related macular degeneration 7	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.
http://purl.obolibrary.org/obo/MONDO_0012420	autosomal recessive nonsyndromic hearing loss 49	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.
http://purl.obolibrary.org/obo/MONDO_0012421	autosomal recessive nonsyndromic hearing loss 44	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.
http://purl.obolibrary.org/obo/MONDO_0012422	type 1 diabetes mellitus 19	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.
http://purl.obolibrary.org/obo/MONDO_0012423	MORM syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.
http://purl.obolibrary.org/obo/MONDO_0012430	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	http://purl.obolibrary.org/obo/MONDO_0009133	cerebellar ataxia, intellectual disability, and dysequilibrium		Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.
http://purl.obolibrary.org/obo/MONDO_0012431	diaphragmatic hernia 3	http://purl.obolibrary.org/obo/MONDO_0005711	congenital diaphragmatic hernia		Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.
http://purl.obolibrary.org/obo/MONDO_0012432	Joubert syndrome 5	http://purl.obolibrary.org/obo/MONDO_0100451	CEP290-related ciliopathy		Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.
http://purl.obolibrary.org/obo/MONDO_0012433	Senior-Loken syndrome 6	http://purl.obolibrary.org/obo/MONDO_0100451	CEP290-related ciliopathy		Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.
http://purl.obolibrary.org/obo/MONDO_0012434	arrhythmogenic right ventricular dysplasia 10	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.
http://purl.obolibrary.org/obo/MONDO_0012435	3-methylglutaconic aciduria type 5	http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria		A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.
http://purl.obolibrary.org/obo/MONDO_0012436	neonatal diabetes mellitus with congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0016391	neonatal diabetes mellitus		A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others
http://purl.obolibrary.org/obo/MONDO_0012437	cataract 21 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.
http://purl.obolibrary.org/obo/MONDO_0012438	pontocerebellar hypoplasia type 5	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
http://purl.obolibrary.org/obo/MONDO_0012442	autosomal recessive nonsyndromic hearing loss 66	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.
http://purl.obolibrary.org/obo/MONDO_0012445	autosomal recessive nonsyndromic hearing loss 59	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.
http://purl.obolibrary.org/obo/MONDO_0012448	hereditary spastic paraplegia 33	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.
http://purl.obolibrary.org/obo/MONDO_0012449	spinocerebellar ataxia type 23	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
http://purl.obolibrary.org/obo/MONDO_0012450	spinocerebellar ataxia type 28	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
http://purl.obolibrary.org/obo/MONDO_0012452	autosomal recessive nonsyndromic hearing loss 65	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.
http://purl.obolibrary.org/obo/MONDO_0012453	hereditary spastic paraplegia 31	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
http://purl.obolibrary.org/obo/MONDO_0012454	alcohol sensitivity, acute	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.
http://purl.obolibrary.org/obo/MONDO_0012455	Kleefstra syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
http://purl.obolibrary.org/obo/MONDO_0012456	congenital primary aphakia	http://purl.obolibrary.org/obo/MONDO_0019503	anterior segment dysgenesis		Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.
http://purl.obolibrary.org/obo/MONDO_0012460	autosomal recessive nonsyndromic hearing loss 67	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.
http://purl.obolibrary.org/obo/MONDO_0012463	retinitis pigmentosa 35	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.
http://purl.obolibrary.org/obo/MONDO_0012464	cone-rod dystrophy 10	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.
http://purl.obolibrary.org/obo/MONDO_0012465	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
http://purl.obolibrary.org/obo/MONDO_0012467	cold-induced sweating syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015526	cold-induced sweating syndrome		Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.
http://purl.obolibrary.org/obo/MONDO_0012471	Aicardi-Goutieres syndrome 3	http://purl.obolibrary.org/obo/MONDO_0700258	RNASEH2C-related type 1 interferonopathy		Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.
http://purl.obolibrary.org/obo/MONDO_0012472	Aicardi-Goutieres syndrome 4	http://purl.obolibrary.org/obo/MONDO_0700259	RNASEH2A-related type 1 interferonopathy		Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.
http://purl.obolibrary.org/obo/MONDO_0012474	autosomal dominant nocturnal frontal lobe epilepsy 4	http://purl.obolibrary.org/obo/MONDO_0000030	familial sleep-related hypermotor epilepsy		Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.
http://purl.obolibrary.org/obo/MONDO_0012475	cone dystrophy with supernormal rod response	http://purl.obolibrary.org/obo/MONDO_0000455	cone dystrophy		Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.
http://purl.obolibrary.org/obo/MONDO_0012476	hereditary spastic paraplegia 30	http://purl.obolibrary.org/obo/MONDO_0700055	KIF1A related neurological disorder		Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
http://purl.obolibrary.org/obo/MONDO_0012477	retinitis pigmentosa 33	http://purl.obolibrary.org/obo/MONDO_0800098	SNRNP200-related dominant retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.
http://purl.obolibrary.org/obo/MONDO_0012479	congenital malabsorptive diarrhea 4	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.
http://purl.obolibrary.org/obo/MONDO_0012480	diabetes mellitus, transient neonatal, 2	http://purl.obolibrary.org/obo/MONDO_0020525	transient neonatal diabetes mellitus		Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.
http://purl.obolibrary.org/obo/MONDO_0012481	mevalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0017708	mevalonate kinase deficiency		Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
http://purl.obolibrary.org/obo/MONDO_0012483	cone-rod dystrophy 11	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.
http://purl.obolibrary.org/obo/MONDO_0012485	autosomal recessive nonsyndromic hearing loss 68	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.
http://purl.obolibrary.org/obo/MONDO_0012489	cataract 23	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.
http://purl.obolibrary.org/obo/MONDO_0012495	spondyloepimetaphyseal dysplasia, Genevieve type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
http://purl.obolibrary.org/obo/MONDO_0012496	Koolen-de Vries syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.
http://purl.obolibrary.org/obo/MONDO_0012497	congenital stationary night blindness autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0016293	congenital stationary night blindness		A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/MONDO_0012498	congenital stationary night blindness autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0700380	RHO-related retinopathy		Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.
http://purl.obolibrary.org/obo/MONDO_0012503	thiopurine S-methyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0000210	thiopurine metabolic disease		An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.
http://purl.obolibrary.org/obo/MONDO_0012504	camptodactyly-tall stature-scoliosis-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0019685	FGFR3-related chondrodysplasia		Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
http://purl.obolibrary.org/obo/MONDO_0012505	pigmented nodular adrenocortical disease, primary, 2	http://purl.obolibrary.org/obo/MONDO_0015999	primary pigmented nodular adrenocortical disease		Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.
http://purl.obolibrary.org/obo/MONDO_0012506	arrhythmogenic right ventricular dysplasia 11	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.
http://purl.obolibrary.org/obo/MONDO_0012507	retinal cone dystrophy 4	http://purl.obolibrary.org/obo/MONDO_0700244	CACNA2D4-related retinopathy		Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.
http://purl.obolibrary.org/obo/MONDO_0012508	agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	http://purl.obolibrary.org/obo/MONDO_0016463	syndromic agammaglobulinemia		A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.
http://purl.obolibrary.org/obo/MONDO_0012509	pigmented nodular adrenocortical disease, primary, 1	http://purl.obolibrary.org/obo/MONDO_0015999	primary pigmented nodular adrenocortical disease		Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.
http://purl.obolibrary.org/obo/MONDO_0012510	combined oxidative phosphorylation defect type 2	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
http://purl.obolibrary.org/obo/MONDO_0012511	preterm premature rupture of the membranes	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.
http://purl.obolibrary.org/obo/MONDO_0012512	fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0012513	maturity-onset diabetes of the young type 7	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.
http://purl.obolibrary.org/obo/MONDO_0012514	hypomyelinating leukodystrophy 5	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0012516	mandibulofacial dysostosis-microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0012517	Gaucher disease due to saposin C deficiency	http://purl.obolibrary.org/obo/MONDO_0100517	PSAP-related sphingolipidosis		Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
http://purl.obolibrary.org/obo/MONDO_0012518	congenital myasthenic syndrome 12	http://purl.obolibrary.org/obo/MONDO_0000182	congenital myasthenic syndrome with tubular aggregates		Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.
http://purl.obolibrary.org/obo/MONDO_0012520	insulin-resistance syndrome type A	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.
http://purl.obolibrary.org/obo/MONDO_0012521	herpes simplex encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.
http://purl.obolibrary.org/obo/MONDO_0012523	retinitis pigmentosa 36	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.
http://purl.obolibrary.org/obo/MONDO_0012525	Leber congenital amaurosis 12	http://purl.obolibrary.org/obo/MONDO_0700235	RD3-related retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.
http://purl.obolibrary.org/obo/MONDO_0012526	hereditary angioedema type 3	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
http://purl.obolibrary.org/obo/MONDO_0012527	cataract 11 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.
http://purl.obolibrary.org/obo/MONDO_0012528	hypogonadotropic hypogonadism 4 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.
http://purl.obolibrary.org/obo/MONDO_0012529	Diamond-Blackfan anemia 3	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.
http://purl.obolibrary.org/obo/MONDO_0012530	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown.
http://purl.obolibrary.org/obo/MONDO_0012531	xeroderma pigmentosum group B	http://purl.obolibrary.org/obo/MONDO_0016354	xeroderma pigmentosum-Cockayne syndrome complex		Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.
http://purl.obolibrary.org/obo/MONDO_0012536	osteogenesis imperfecta type 7	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.
http://purl.obolibrary.org/obo/MONDO_0012538	nemaline myopathy 7	http://purl.obolibrary.org/obo/MONDO_0015737	typical nemaline myopathy		Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.
http://purl.obolibrary.org/obo/MONDO_0012539	Joubert syndrome 6	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
http://purl.obolibrary.org/obo/MONDO_0012540	age related macular degeneration 4	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.
http://purl.obolibrary.org/obo/MONDO_0012541	deafness with labyrinthine aplasia, microtia, and microdontia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.
http://purl.obolibrary.org/obo/MONDO_0012544	brachydactyly-syndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
http://purl.obolibrary.org/obo/MONDO_0012547	Noonan syndrome 4	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.
http://purl.obolibrary.org/obo/MONDO_0012552	multiple endocrine neoplasia type 4	http://purl.obolibrary.org/obo/MONDO_0017169	multiple endocrine neoplasia		Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.
http://purl.obolibrary.org/obo/MONDO_0012553	cerebrooculofacioskeletal syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008926	COFS syndrome		Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.
http://purl.obolibrary.org/obo/MONDO_0012554	cerebrooculofacioskeletal syndrome 4	http://purl.obolibrary.org/obo/MONDO_0008926	COFS syndrome		Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.
http://purl.obolibrary.org/obo/MONDO_0012556	DK1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.
http://purl.obolibrary.org/obo/MONDO_0012557	cardiomyopathy-hypotonia-lactic acidosis syndrome	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.
http://purl.obolibrary.org/obo/MONDO_0012559	primary immunodeficiency syndrome due to p14 deficiency	http://purl.obolibrary.org/obo/MONDO_0015134	constitutional neutropenia		Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
http://purl.obolibrary.org/obo/MONDO_0012561	congenital anomalies of kidney and urinary tract 1	http://purl.obolibrary.org/obo/MONDO_0019719	congenital anomaly of kidney and urinary tract		Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.
http://purl.obolibrary.org/obo/MONDO_0012562	holoprosencephaly 7	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.
http://purl.obolibrary.org/obo/MONDO_0012563	holoprosencephaly 9	http://purl.obolibrary.org/obo/MONDO_0019757	alobar holoprosencephaly		Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.
http://purl.obolibrary.org/obo/MONDO_0012565	Fanconi anemia complementation group N	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.
http://purl.obolibrary.org/obo/MONDO_0012570	body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.
http://purl.obolibrary.org/obo/MONDO_0012571	primary ciliary dyskinesia 6	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.
http://purl.obolibrary.org/obo/MONDO_0012573	vesicoureteral reflux 2	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.
http://purl.obolibrary.org/obo/MONDO_0012574	Potocki-Lupski syndrome	http://purl.obolibrary.org/obo/MONDO_0016950	partial duplication of the short arm of chromosome 17		17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.
http://purl.obolibrary.org/obo/MONDO_0012579	autoimmune pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).
http://purl.obolibrary.org/obo/MONDO_0012581	osteogenesis imperfecta type 8	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.
http://purl.obolibrary.org/obo/MONDO_0012582	interstitial lung disease due to ABCA3 deficiency	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.
http://purl.obolibrary.org/obo/MONDO_0012586	coronary artery disease, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.
http://purl.obolibrary.org/obo/MONDO_0012588	neuronal ceroid lipofuscinosis 7	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
http://purl.obolibrary.org/obo/MONDO_0012589	Pitt-Hopkins syndrome	http://purl.obolibrary.org/obo/MONDO_0980732	Pitt-Hopkins or Pitt-Hopkins-like syndrome		Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
http://purl.obolibrary.org/obo/MONDO_0012590	XFE progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/MONDO_0012591	osteogenesis imperfecta type 5	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).
http://purl.obolibrary.org/obo/MONDO_0012592	osteogenesis imperfecta type 11	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.
http://purl.obolibrary.org/obo/MONDO_0012593	brain-lung-thyroid syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).
http://purl.obolibrary.org/obo/MONDO_0012596	PSAT deficiency	http://purl.obolibrary.org/obo/MONDO_0018162	neurometabolic disorder due to serine deficiency		Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
http://purl.obolibrary.org/obo/MONDO_0012602	autosomal recessive nonsyndromic hearing loss 24	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.
http://purl.obolibrary.org/obo/MONDO_0012603	episodic kinesigenic dyskinesia 2	http://purl.obolibrary.org/obo/MONDO_0044202	episodic kinesigenic dyskinesia		A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.
http://purl.obolibrary.org/obo/MONDO_0012604	isolated microphthalmia 3	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.
http://purl.obolibrary.org/obo/MONDO_0012605	isolated microphthalmia 5	http://purl.obolibrary.org/obo/MONDO_0000062	isolated microphthalmia		Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.
http://purl.obolibrary.org/obo/MONDO_0012608	neuronopathy, distal hereditary motor, autosomal recessive 4	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
http://purl.obolibrary.org/obo/MONDO_0012609	Alzheimer disease 12	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.
http://purl.obolibrary.org/obo/MONDO_0012610	inflammatory bowel disease 10	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.
http://purl.obolibrary.org/obo/MONDO_0012611	polyhydramnios, megalencephaly, and symptomatic epilepsy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3.
http://purl.obolibrary.org/obo/MONDO_0012613	intellectual disability, autosomal recessive 5	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.
http://purl.obolibrary.org/obo/MONDO_0012614	intellectual disability, autosomal recessive 6	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.
http://purl.obolibrary.org/obo/MONDO_0012615	intellectual disability, autosomal recessive 7	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.
http://purl.obolibrary.org/obo/MONDO_0012621	deafness-infertility syndrome	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
http://purl.obolibrary.org/obo/MONDO_0012624	acyl-CoA dehydrogenase 9 deficiency	http://purl.obolibrary.org/obo/MONDO_0017713	disorder of fatty acid oxidation and ketogenesis		A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0012625	retinitis pigmentosa 37	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.
http://purl.obolibrary.org/obo/MONDO_0012627	epilepsy, idiopathic generalized, susceptibility to, 13	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.
http://purl.obolibrary.org/obo/MONDO_0012629	paroxysmal nonkinesigenic dyskinesia 2	http://purl.obolibrary.org/obo/MONDO_0700088	paroxysmal nonkinesigenic dyskinesia		A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.
http://purl.obolibrary.org/obo/MONDO_0012630	Alzheimer disease 13	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.
http://purl.obolibrary.org/obo/MONDO_0012631	Alzheimer disease 14	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.
http://purl.obolibrary.org/obo/MONDO_0012635	COG8-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0017750	defect in conserved oligomeric Golgi complex		The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
http://purl.obolibrary.org/obo/MONDO_0012637	COG1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0012638	microphthalmia-brain atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.
http://purl.obolibrary.org/obo/MONDO_0012639	hereditary spastic paraplegia 18	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.
http://purl.obolibrary.org/obo/MONDO_0012640	Charcot-Marie-Tooth disease type 4J	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
http://purl.obolibrary.org/obo/MONDO_0012643	hereditary spastic paraplegia 32	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.
http://purl.obolibrary.org/obo/MONDO_0012644	asphyxiating thoracic dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.
http://purl.obolibrary.org/obo/MONDO_0012648	isobutyryl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0019215	classic organic aciduria		An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
http://purl.obolibrary.org/obo/MONDO_0012650	Cernunnos-XLF deficiency	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
http://purl.obolibrary.org/obo/MONDO_0012651	spastic ataxia 2	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.
http://purl.obolibrary.org/obo/MONDO_0012652	autosomal recessive limb-girdle muscular dystrophy type 2L	http://purl.obolibrary.org/obo/MONDO_0015152	autosomal recessive limb-girdle muscular dystrophy		A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.
http://purl.obolibrary.org/obo/MONDO_0012654	atrial septal defect 4	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.
http://purl.obolibrary.org/obo/MONDO_0012656	lethal congenital contracture syndrome 3	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.
http://purl.obolibrary.org/obo/MONDO_0012658	brachydactyly type B2	http://purl.obolibrary.org/obo/MONDO_0019676	brachydactyly type B		Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
http://purl.obolibrary.org/obo/MONDO_0012659	age related macular degeneration 9	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.
http://purl.obolibrary.org/obo/MONDO_0012662	Usher syndrome type 2D	http://purl.obolibrary.org/obo/MONDO_0016484	Usher syndrome type 2		Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.
http://purl.obolibrary.org/obo/MONDO_0012664	spastic ataxia 3	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0012665	cataract 33	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.
http://purl.obolibrary.org/obo/MONDO_0012667	dilated cardiomyopathy 1W	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.
http://purl.obolibrary.org/obo/MONDO_0012669	Legius syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.
http://purl.obolibrary.org/obo/MONDO_0012670	autosomal recessive nonsyndromic hearing loss 63	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.
http://purl.obolibrary.org/obo/MONDO_0012672	cholelithiasis	http://purl.obolibrary.org/obo/MONDO_0004868	biliary tract disorder		The presence of crystallized deposits forming in the gallbladder or biliary tree, primarily composed of cholesterol, bilirubin, and bile.
http://purl.obolibrary.org/obo/MONDO_0012675	corticosteroid-binding globulin deficiency	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.
http://purl.obolibrary.org/obo/MONDO_0012676	autosomal recessive osteopetrosis 4	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.
http://purl.obolibrary.org/obo/MONDO_0012677	atrial fibrillation, familial, 4	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.
http://purl.obolibrary.org/obo/MONDO_0012679	autosomal recessive osteopetrosis 6	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.
http://purl.obolibrary.org/obo/MONDO_0012680	nephronophthisis 7	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.
http://purl.obolibrary.org/obo/MONDO_0012682	immunodeficiency 35	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.
http://purl.obolibrary.org/obo/MONDO_0012683	pontocerebellar hypoplasia type 6	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.
http://purl.obolibrary.org/obo/MONDO_0012684	arrhythmogenic right ventricular dysplasia 12	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.
http://purl.obolibrary.org/obo/MONDO_0012688	cataract 17 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.
http://purl.obolibrary.org/obo/MONDO_0012689	premature ovarian failure 5	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.
http://purl.obolibrary.org/obo/MONDO_0012690	Noonan syndrome 5	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.
http://purl.obolibrary.org/obo/MONDO_0012691	LEOPARD syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007893	Noonan syndrome with multiple lentigines		Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.
http://purl.obolibrary.org/obo/MONDO_0012693	glycogen storage disease due to muscle and heart glycogen synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.
http://purl.obolibrary.org/obo/MONDO_0012694	Joubert syndrome 7	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
http://purl.obolibrary.org/obo/MONDO_0012695	Meckel syndrome, type 5	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
http://purl.obolibrary.org/obo/MONDO_0012698	Waardenburg syndrome type 2E	http://purl.obolibrary.org/obo/MONDO_0019517	Waardenburg syndrome type 2		Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.
http://purl.obolibrary.org/obo/MONDO_0012699	autosomal recessive limb-girdle muscular dystrophy type 2M	http://purl.obolibrary.org/obo/MONDO_0000173	muscular dystrophy-dystroglycanopathy, type C		A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0012701	cataract 12 multiple types	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
http://purl.obolibrary.org/obo/MONDO_0012704	dilated cardiomyopathy 1X	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.
http://purl.obolibrary.org/obo/MONDO_0012706	familial temporal lobe epilepsy 4	http://purl.obolibrary.org/obo/MONDO_0005115	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.
http://purl.obolibrary.org/obo/MONDO_0012709	microphthalmia, isolated, with coloboma 5	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.
http://purl.obolibrary.org/obo/MONDO_0012716	spondyloepiphyseal dysplasia, Cantu type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
http://purl.obolibrary.org/obo/MONDO_0012717	renal hypomagnesemia 4	http://purl.obolibrary.org/obo/MONDO_0018101	familial primary hypomagnesemia with normocalciuria and normocalcemia		Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.
http://purl.obolibrary.org/obo/MONDO_0012719	combined PSAP deficiency	http://purl.obolibrary.org/obo/MONDO_0100517	PSAP-related sphingolipidosis		Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.
http://purl.obolibrary.org/obo/MONDO_0012721	progressive myoclonic epilepsy type 3	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.
http://purl.obolibrary.org/obo/MONDO_0012723	Leber congenital amaurosis 10	http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.
http://purl.obolibrary.org/obo/MONDO_0012724	familial cold autoinflammatory syndrome 2	http://purl.obolibrary.org/obo/MONDO_0018768	familial cold autoinflammatory syndrome		An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.
http://purl.obolibrary.org/obo/MONDO_0012726	autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	http://purl.obolibrary.org/obo/MONDO_0004995	cardiovascular disorder		A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.
http://purl.obolibrary.org/obo/MONDO_0012727	Kawasaki disease	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.
http://purl.obolibrary.org/obo/MONDO_0012728	Brugada syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome		Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.
http://purl.obolibrary.org/obo/MONDO_0012729	erythrocytosis, familial, 4	http://purl.obolibrary.org/obo/MONDO_0001115	familial polycythemia		Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.
http://purl.obolibrary.org/obo/MONDO_0012730	aortic aneurysm, familial thoracic 6	http://purl.obolibrary.org/obo/MONDO_0013452	multisystemic smooth muscle dysfunction syndrome		Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
http://purl.obolibrary.org/obo/MONDO_0012731	elliptocytosis 1	http://purl.obolibrary.org/obo/MONDO_0017319	hereditary elliptocytosis		Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.
http://purl.obolibrary.org/obo/MONDO_0012733	autosomal recessive bestrophinopathy	http://purl.obolibrary.org/obo/MONDO_0700239	BEST1-related recessive retinopathy		Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).
http://purl.obolibrary.org/obo/MONDO_0012734	SERKAL syndrome	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.
http://purl.obolibrary.org/obo/MONDO_0012735	Temple-Baraitser syndrome	http://purl.obolibrary.org/obo/MONDO_0100485	KCNH1 associated disorder		A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
http://purl.obolibrary.org/obo/MONDO_0012736	long QT syndrome 9	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.
http://purl.obolibrary.org/obo/MONDO_0012737	long QT syndrome 10	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.
http://purl.obolibrary.org/obo/MONDO_0012738	long QT syndrome 11	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.
http://purl.obolibrary.org/obo/MONDO_0012739	microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
http://purl.obolibrary.org/obo/MONDO_0012740	chromosome 22q11.2 deletion syndrome, distal	http://purl.obolibrary.org/obo/MONDO_0018923	22q11.2 deletion syndrome		Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.
http://purl.obolibrary.org/obo/MONDO_0012741	prostate cancer, hereditary, 12	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.
http://purl.obolibrary.org/obo/MONDO_0012742	Brugada syndrome 3	http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome		Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.
http://purl.obolibrary.org/obo/MONDO_0012743	Brugada syndrome 4	http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome		Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.
http://purl.obolibrary.org/obo/MONDO_0012744	dilated cardiomyopathy 1Y	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.
http://purl.obolibrary.org/obo/MONDO_0012745	dilated cardiomyopathy 1Z	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.
http://purl.obolibrary.org/obo/MONDO_0012746	dilated cardiomyopathy 2A	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.
http://purl.obolibrary.org/obo/MONDO_0012747	glycogen storage disease due to aldolase A deficiency	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.
http://purl.obolibrary.org/obo/MONDO_0012748	primary ciliary dyskinesia 7	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.
http://purl.obolibrary.org/obo/MONDO_0012753	amyotrophic lateral sclerosis type 9	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.
http://purl.obolibrary.org/obo/MONDO_0012755	episodic ataxia type 7	http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia		Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.
http://purl.obolibrary.org/obo/MONDO_0012758	prostate cancer, hereditary, 13	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.
http://purl.obolibrary.org/obo/MONDO_0012759	camptodactyly syndrome, Guadalajara type 3	http://purl.obolibrary.org/obo/MONDO_0000111	camptodactyly syndrome, Guadalajara		Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.
http://purl.obolibrary.org/obo/MONDO_0012761	chromosome 3q29 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016954	partial duplication of the long arm of chromosome 3		3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.
http://purl.obolibrary.org/obo/MONDO_0012762	catecholaminergic polymorphic ventricular tachycardia 2	http://purl.obolibrary.org/obo/MONDO_0017990	catecholaminergic polymorphic ventricular tachycardia		Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.
http://purl.obolibrary.org/obo/MONDO_0012764	RIDDLE syndrome	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.
http://purl.obolibrary.org/obo/MONDO_0012766	hereditary spastic paraplegia 37	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.
http://purl.obolibrary.org/obo/MONDO_0012767	age related macular degeneration 11	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.
http://purl.obolibrary.org/obo/MONDO_0012774	chromosome 15q13.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0012775	thrombocytopenia 4	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.
http://purl.obolibrary.org/obo/MONDO_0012783	RFT1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).
http://purl.obolibrary.org/obo/MONDO_0012784	autosomal recessive ataxia due to ubiquinone deficiency	http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency		This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.
http://purl.obolibrary.org/obo/MONDO_0012787	hereditary spastic paraplegia 39	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.
http://purl.obolibrary.org/obo/MONDO_0012789	dystonia 16	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
http://purl.obolibrary.org/obo/MONDO_0012790	amyotrophic lateral sclerosis type 10	http://purl.obolibrary.org/obo/MONDO_0017161	frontotemporal dementia with motor neuron disease		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene.
http://purl.obolibrary.org/obo/MONDO_0012791	mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0016796	mitochondrial DNA depletion syndrome, encephalomyopathic form		Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.
http://purl.obolibrary.org/obo/MONDO_0012792	mitochondrial DNA depletion syndrome 8a	http://purl.obolibrary.org/obo/MONDO_0017575	mitochondrial neurogastrointestinal encephalomyopathy		Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.
http://purl.obolibrary.org/obo/MONDO_0012794	ANE syndrome	http://purl.obolibrary.org/obo/MONDO_0018762	non-acquired combined pituitary hormone deficiency		ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
http://purl.obolibrary.org/obo/MONDO_0012796	retinitis pigmentosa 41	http://purl.obolibrary.org/obo/MONDO_1040052	PROM1-related recessive retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.
http://purl.obolibrary.org/obo/MONDO_0012799	hypertrophic cardiomyopathy 11	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
http://purl.obolibrary.org/obo/MONDO_0012802	oculoauricular syndrome	http://purl.obolibrary.org/obo/MONDO_0016073	syndromic microphthalmia		Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).
http://purl.obolibrary.org/obo/MONDO_0012803	diarrhea-vomiting due to trehalase deficiency	http://purl.obolibrary.org/obo/MONDO_0017706	disorder of carbohydrate transmembrane transport and absorption		This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.
http://purl.obolibrary.org/obo/MONDO_0012804	hypertrophic cardiomyopathy 12	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
http://purl.obolibrary.org/obo/MONDO_0012805	childhood onset GLUT1 deficiency syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015427	paroxysmal dyskinesia		A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
http://purl.obolibrary.org/obo/MONDO_0012807	epidermolysis bullosa simplex 5C, with pyloric atresia	http://purl.obolibrary.org/obo/MONDO_1060109	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder		A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.
http://purl.obolibrary.org/obo/MONDO_0012808	dilated cardiomyopathy 1AA	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
http://purl.obolibrary.org/obo/MONDO_0012809	histiocytoma, Angiomatoid fibrous	http://purl.obolibrary.org/obo/MONDO_0005509	histiocytoma		A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.
http://purl.obolibrary.org/obo/MONDO_0012812	developmental and epileptic encephalopathy, 4	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.
http://purl.obolibrary.org/obo/MONDO_0012813	retinitis pigmentosa 29	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.
http://purl.obolibrary.org/obo/MONDO_0012815	Coats plus syndrome	http://purl.obolibrary.org/obo/MONDO_0100137	telomere syndrome		Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
http://purl.obolibrary.org/obo/MONDO_0012816	atrial fibrillation, familial, 6	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene.
http://purl.obolibrary.org/obo/MONDO_0012817	Ewing sarcoma	http://purl.obolibrary.org/obo/MONDO_0021038	Ewing sarcoma/peripheral primitive neuroectodermal tumor		A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.
http://purl.obolibrary.org/obo/MONDO_0012818	maturity-onset diabetes of the young type 9	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.
http://purl.obolibrary.org/obo/MONDO_0012819	diabetic ketoacidosis	http://purl.obolibrary.org/obo/MONDO_0005015	diabetes mellitus		The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids.
http://purl.obolibrary.org/obo/MONDO_0012824	hypomyelinating leukodystrophy 4	http://purl.obolibrary.org/obo/MONDO_0017226	Pelizaeus-Merzbacher-like disease		Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.
http://purl.obolibrary.org/obo/MONDO_0012825	extraskeletal myxoid chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.
http://purl.obolibrary.org/obo/MONDO_0012828	atrial fibrillation, familial, 7	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.
http://purl.obolibrary.org/obo/MONDO_0012829	inflammatory bowel disease 12	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3
http://purl.obolibrary.org/obo/MONDO_0012830	chromosome 10q23 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016909	partial monosomy of the long arm of chromosome 10		10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.
http://purl.obolibrary.org/obo/MONDO_0012831	inflammatory bowel disease 13	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.
http://purl.obolibrary.org/obo/MONDO_0012832	inflammatory bowel disease 14	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.
http://purl.obolibrary.org/obo/MONDO_0012833	Crouzon syndrome-acanthosis nigricans syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).
http://purl.obolibrary.org/obo/MONDO_0012837	inflammatory bowel disease 15	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.
http://purl.obolibrary.org/obo/MONDO_0012838	inflammatory bowel disease 16	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.
http://purl.obolibrary.org/obo/MONDO_0012839	pyogenic bacterial infections due to MyD88 deficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.
http://purl.obolibrary.org/obo/MONDO_0012840	inflammatory bowel disease 17	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.
http://purl.obolibrary.org/obo/MONDO_0012841	inflammatory bowel disease 18	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.
http://purl.obolibrary.org/obo/MONDO_0012844	primary ciliary dyskinesia 8	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.
http://purl.obolibrary.org/obo/MONDO_0012845	inflammatory bowel disease 19	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.
http://purl.obolibrary.org/obo/MONDO_0012847	autosomal recessive congenital ichthyosis 6	http://purl.obolibrary.org/obo/MONDO_0019306	congenital non-bullous ichthyosiform erythroderma		Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.
http://purl.obolibrary.org/obo/MONDO_0012848	Meckel syndrome, type 6	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.
http://purl.obolibrary.org/obo/MONDO_0012849	Joubert syndrome 9	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.
http://purl.obolibrary.org/obo/MONDO_0012852	inflammatory bowel disease 20	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.
http://purl.obolibrary.org/obo/MONDO_0012853	Fontaine progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
http://purl.obolibrary.org/obo/MONDO_0012854	bilateral microtia-deafness-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
http://purl.obolibrary.org/obo/MONDO_0012855	Joubert syndrome 8	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.
http://purl.obolibrary.org/obo/MONDO_0012856	Birk-Barel syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).
http://purl.obolibrary.org/obo/MONDO_0012859	autosomal recessive osteopetrosis 7	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.
http://purl.obolibrary.org/obo/MONDO_0012861	premature ovarian failure 6	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.
http://purl.obolibrary.org/obo/MONDO_0012864	chromosome 2q32-q33 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2		2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0012866	hereditary spastic paraplegia 35	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
http://purl.obolibrary.org/obo/MONDO_0012867	hereditary spastic paraplegia 38	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.
http://purl.obolibrary.org/obo/MONDO_0012868	thrombophilia due to protein S deficiency, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019144	hereditary thrombophilia due to congenital protein S deficiency		Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.
http://purl.obolibrary.org/obo/MONDO_0012869	intellectual disability, autosomal dominant 22	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.
http://purl.obolibrary.org/obo/MONDO_0012871	Jervell and Lange-Nielsen syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013372	long QT syndrome 5		Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
http://purl.obolibrary.org/obo/MONDO_0012873	Ehlers-Danlos syndrome, spondylocheirodysplastic type	http://purl.obolibrary.org/obo/MONDO_0007526	Ehlers-Danlos syndrome, spondylodysplastic type		Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.
http://purl.obolibrary.org/obo/MONDO_0012875	inflammatory bowel disease 21	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.
http://purl.obolibrary.org/obo/MONDO_0012880	hypogonadotropic hypogonadism 5 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.
http://purl.obolibrary.org/obo/MONDO_0012883	acute promyelocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0017893	inherited acute myeloid leukemia		An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.
http://purl.obolibrary.org/obo/MONDO_0012886	inflammatory bowel disease 22	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.
http://purl.obolibrary.org/obo/MONDO_0012887	inflammatory bowel disease 23	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.
http://purl.obolibrary.org/obo/MONDO_0012890	pontocerebellar hypoplasia type 2B	http://purl.obolibrary.org/obo/MONDO_0016759	pontocerebellar hypoplasia type 2		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.
http://purl.obolibrary.org/obo/MONDO_0012891	pontocerebellar hypoplasia type 2C	http://purl.obolibrary.org/obo/MONDO_0016759	pontocerebellar hypoplasia type 2		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.
http://purl.obolibrary.org/obo/MONDO_0012892	bone fragility with contractures, arterial rupture, and deafness	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
http://purl.obolibrary.org/obo/MONDO_0012895	torsion dystonia 17	http://purl.obolibrary.org/obo/MONDO_0015990	focal, segmental or multifocal dystonia		A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.
http://purl.obolibrary.org/obo/MONDO_0012897	congenital factor XI deficiency	http://purl.obolibrary.org/obo/MONDO_0020587	factor XI deficiency		Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
http://purl.obolibrary.org/obo/MONDO_0012900	cardiomyopathy, familial restrictive, 3	http://purl.obolibrary.org/obo/MONDO_0016340	familial restrictive cardiomyopathy		Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
http://purl.obolibrary.org/obo/MONDO_0012901	inherited prekallikrein deficiency	http://purl.obolibrary.org/obo/MONDO_0044744	prekallikrein deficiency		An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0012902	autosomal dominant nonsyndromic hearing loss 27	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.
http://purl.obolibrary.org/obo/MONDO_0012903	autosomal recessive nonsyndromic hearing loss 45	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.
http://purl.obolibrary.org/obo/MONDO_0012904	epilepsy, progressive myoclonic, 1B	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.
http://purl.obolibrary.org/obo/MONDO_0012905	hypomyelinating leukodystrophy 6	http://purl.obolibrary.org/obo/MONDO_0800470	TUBB4A-related neurologic disorder		A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.
http://purl.obolibrary.org/obo/MONDO_0012906	primary ciliary dyskinesia 9	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.
http://purl.obolibrary.org/obo/MONDO_0012907	blindness - scoliosis - arachnodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.
http://purl.obolibrary.org/obo/MONDO_0012908	complement component 6 deficiency	http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency		Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.
http://purl.obolibrary.org/obo/MONDO_0012911	pseudohypoparathyroidism type 1C	http://purl.obolibrary.org/obo/MONDO_0018379	primary avascular necrosis		A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).
http://purl.obolibrary.org/obo/MONDO_0012912	pseudopseudohypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0019992	pseudohypoparathyroidism		A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).
http://purl.obolibrary.org/obo/MONDO_0012913	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0008681	WAGR syndrome		A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.
http://purl.obolibrary.org/obo/MONDO_0012914	chromosome 1q21.1 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0022756	chromosome 1q deletion		1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
http://purl.obolibrary.org/obo/MONDO_0012915	chromosome 1q21.1 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016952	partial duplication of the long arm of chromosome 1		Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.
http://purl.obolibrary.org/obo/MONDO_0012916	chromosome 2p16.1-p15 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016884	partial deletion of the short arm of chromosome 2		2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0012918	primary ciliary dyskinesia 10	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.
http://purl.obolibrary.org/obo/MONDO_0012919	type 1 diabetes mellitus 20	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.
http://purl.obolibrary.org/obo/MONDO_0012920	type 1 diabetes mellitus 21	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25.
http://purl.obolibrary.org/obo/MONDO_0012921	type 1 diabetes mellitus 22	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.
http://purl.obolibrary.org/obo/MONDO_0012923	congenital generalized lipodystrophy type 3	http://purl.obolibrary.org/obo/MONDO_0018883	Berardinelli-Seip congenital lipodystrophy		Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.
http://purl.obolibrary.org/obo/MONDO_0012924	Diamond-Blackfan anemia 4	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.
http://purl.obolibrary.org/obo/MONDO_0012925	Diamond-Blackfan anemia 5	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.
http://purl.obolibrary.org/obo/MONDO_0012926	amelogenesis imperfecta hypomaturation type 2A2	http://purl.obolibrary.org/obo/MONDO_0015048	amelogenesis imperfecta type 2		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.
http://purl.obolibrary.org/obo/MONDO_0012927	chromosome 1q41-q42 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0022756	chromosome 1q deletion		1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
http://purl.obolibrary.org/obo/MONDO_0012928	hereditary spastic paraplegia 42	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.
http://purl.obolibrary.org/obo/MONDO_0012938	Diamond-Blackfan anemia 7	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.
http://purl.obolibrary.org/obo/MONDO_0012939	Diamond-Blackfan anemia 8	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.
http://purl.obolibrary.org/obo/MONDO_0012940	inflammatory bowel disease 24	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.
http://purl.obolibrary.org/obo/MONDO_0012941	inflammatory bowel disease 25	http://purl.obolibrary.org/obo/MONDO_0016542	IL10-related early-onset inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.
http://purl.obolibrary.org/obo/MONDO_0012943	retinitis pigmentosa 46	http://purl.obolibrary.org/obo/MONDO_0800393	IDH3B-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.
http://purl.obolibrary.org/obo/MONDO_0012945	amyotrophic lateral sclerosis type 11	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.
http://purl.obolibrary.org/obo/MONDO_0012946	intellectual disability, autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.
http://purl.obolibrary.org/obo/MONDO_0012948	chromosome 6pter-p24 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016888	partial deletion of the short arm of chromosome 6		Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0012960	intellectual disability, autosomal dominant 5	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.
http://purl.obolibrary.org/obo/MONDO_0012961	type 1 diabetes mellitus 23	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27.
http://purl.obolibrary.org/obo/MONDO_0012964	chromosome 15q26-qter deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
http://purl.obolibrary.org/obo/MONDO_0012967	hemolytic anemia due to adenylate kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0006506	congenital nonspherocytic hemolytic anemia		Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
http://purl.obolibrary.org/obo/MONDO_0012968	Usher syndrome type 1H	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.
http://purl.obolibrary.org/obo/MONDO_0012973	inflammatory bowel disease 26	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.
http://purl.obolibrary.org/obo/MONDO_0012974	autosomal dominant nonsyndromic hearing loss 59	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.
http://purl.obolibrary.org/obo/MONDO_0012975	autosomal dominant nonsyndromic hearing loss 3B	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.
http://purl.obolibrary.org/obo/MONDO_0012976	autosomal dominant nonsyndromic hearing loss 2B	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.
http://purl.obolibrary.org/obo/MONDO_0012977	autosomal recessive nonsyndromic hearing loss 1B	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.
http://purl.obolibrary.org/obo/MONDO_0012978	primary ciliary dyskinesia 11	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.
http://purl.obolibrary.org/obo/MONDO_0012979	primary ciliary dyskinesia 12	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.
http://purl.obolibrary.org/obo/MONDO_0012980	endocrine-cerebro-osteodysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
http://purl.obolibrary.org/obo/MONDO_0012981	hereditary spherocytosis type 4	http://purl.obolibrary.org/obo/MONDO_0019350	hereditary spherocytosis		Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.
http://purl.obolibrary.org/obo/MONDO_0012982	episodic ataxia type 6	http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia		Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
http://purl.obolibrary.org/obo/MONDO_0012983	cone-rod dystrophy 12	http://purl.obolibrary.org/obo/MONDO_1040056	PROM1-related retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.
http://purl.obolibrary.org/obo/MONDO_0012984	PHARC syndrome	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.
http://purl.obolibrary.org/obo/MONDO_0012985	hereditary spherocytosis type 5	http://purl.obolibrary.org/obo/MONDO_0019350	hereditary spherocytosis		Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.
http://purl.obolibrary.org/obo/MONDO_0012988	hypogonadotropic hypogonadism 6 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.
http://purl.obolibrary.org/obo/MONDO_0012989	microcephaly 7, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.
http://purl.obolibrary.org/obo/MONDO_0012990	Leber congenital amaurosis 13	http://purl.obolibrary.org/obo/MONDO_0800099	RDH12-related recessive retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.
http://purl.obolibrary.org/obo/MONDO_0012991	Kahrizi syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.
http://purl.obolibrary.org/obo/MONDO_0012992	pancreatic insufficiency-anemia-hyperostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
http://purl.obolibrary.org/obo/MONDO_0012994	dopa-responsive dystonia due to sepiapterin reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0045014	tetrahydrobiopterin metabolic process disease		Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
http://purl.obolibrary.org/obo/MONDO_0012996	AGAT deficiency	http://purl.obolibrary.org/obo/MONDO_0045018	creatine biosynthetic process disease		L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.
http://purl.obolibrary.org/obo/MONDO_0012997	cholestasis-pigmentary retinopathy-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.
http://purl.obolibrary.org/obo/MONDO_0012999	guanidinoacetate methyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0045018	creatine biosynthetic process disease		A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
http://purl.obolibrary.org/obo/MONDO_0013002	cone-rod dystrophy 9	http://purl.obolibrary.org/obo/MONDO_0800398	ADAM9-related retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.
http://purl.obolibrary.org/obo/MONDO_0013005	EAST syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
http://purl.obolibrary.org/obo/MONDO_0013006	isolated growth hormone deficiency type IB	http://purl.obolibrary.org/obo/MONDO_0000050	isolated congenital growth hormone deficiency		An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
http://purl.obolibrary.org/obo/MONDO_0013007	combined immunodeficiency due to ORAI1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015695	combined immunodeficiency due to CRAC channel dysfunction		A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
http://purl.obolibrary.org/obo/MONDO_0013008	combined immunodeficiency due to STIM1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015695	combined immunodeficiency due to CRAC channel dysfunction		Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0013010	autosomal recessive nonsyndromic hearing loss 71	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.
http://purl.obolibrary.org/obo/MONDO_0013011	atrial septal defect 5	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.
http://purl.obolibrary.org/obo/MONDO_0013012	inflammatory bowel disease 27	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3
http://purl.obolibrary.org/obo/MONDO_0013014	spondyloepimetaphyseal dysplasia, aggrecan type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
http://purl.obolibrary.org/obo/MONDO_0013015	Brugada syndrome 5	http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome		Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.
http://purl.obolibrary.org/obo/MONDO_0013016	leukocyte adhesion deficiency 3	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.
http://purl.obolibrary.org/obo/MONDO_0013017	hypotrichosis 5	http://purl.obolibrary.org/obo/MONDO_0018631	Marie Unna hereditary hypotrichosis		A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.
http://purl.obolibrary.org/obo/MONDO_0013021	sterile multifocal osteomyelitis with periostitis and pustulosis	http://purl.obolibrary.org/obo/MONDO_0009813	chronic recurrent multifocal osteomyelitis		An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.
http://purl.obolibrary.org/obo/MONDO_0013024	chronic thromboembolic pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0005149	pulmonary hypertension		Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.
http://purl.obolibrary.org/obo/MONDO_0013025	chromosome 6q24-q25 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016905	partial deletion of the long arm of chromosome 6		6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
http://purl.obolibrary.org/obo/MONDO_0013026	subepithelial mucinous corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.
http://purl.obolibrary.org/obo/MONDO_0013027	posterior amorphous corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.
http://purl.obolibrary.org/obo/MONDO_0013030	dilated cardiomyopathy 1BB	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.
http://purl.obolibrary.org/obo/MONDO_0013033	cerebral palsy, spastic quadriplegic, 2	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.
http://purl.obolibrary.org/obo/MONDO_0013034	keratosis palmoplantaris striata 2	http://purl.obolibrary.org/obo/MONDO_0018865	striate palmoplantar keratoderma		Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.
http://purl.obolibrary.org/obo/MONDO_0013035	orofaciodigital syndrome XI	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.
http://purl.obolibrary.org/obo/MONDO_0013038	CLOVES syndrome	http://purl.obolibrary.org/obo/MONDO_1040002	PIK3CA-related overgrowth spectrum		A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly.
http://purl.obolibrary.org/obo/MONDO_0013039	3M syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.
http://purl.obolibrary.org/obo/MONDO_0013046	glycogen storage disease due to muscle beta-enolase deficiency	http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis		Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
http://purl.obolibrary.org/obo/MONDO_0013048	hereditary spastic paraplegia 50	http://purl.obolibrary.org/obo/MONDO_0100176	AP-4 deficiency syndrome		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.
http://purl.obolibrary.org/obo/MONDO_0013049	DPM3-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0018276	muscular dystrophy-dystroglycanopathy		DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0013051	autosomal recessive cutis laxa type 2B	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.
http://purl.obolibrary.org/obo/MONDO_0013052	retinitis pigmentosa 42	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.
http://purl.obolibrary.org/obo/MONDO_0013053	microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.
http://purl.obolibrary.org/obo/MONDO_0013056	developmental and epileptic encephalopathy, 39	http://purl.obolibrary.org/obo/MONDO_0100455	neonatal-onset developmental and epileptic encephalopathy		A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
http://purl.obolibrary.org/obo/MONDO_0013058	cystic leukoencephalopathy without megalencephaly	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0013059	Aicardi-Goutieres syndrome 5	http://purl.obolibrary.org/obo/MONDO_0700260	SAMHD1-related type 1 interferonopathy		Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.
http://purl.obolibrary.org/obo/MONDO_0013060	autosomal recessive Parkinson disease 14	http://purl.obolibrary.org/obo/MONDO_0017998	PLA2G6-associated neurodegeneration		A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
http://purl.obolibrary.org/obo/MONDO_0013061	myofibrillar myopathy 6	http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy		Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.
http://purl.obolibrary.org/obo/MONDO_0013062	long QT syndrome 12	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.
http://purl.obolibrary.org/obo/MONDO_0013063	ventricular fibrillation, paroxysmal familial, 2	http://purl.obolibrary.org/obo/MONDO_0100234	paroxysmal familial ventricular fibrillation		Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.
http://purl.obolibrary.org/obo/MONDO_0013064	multiple synostoses syndrome 3	http://purl.obolibrary.org/obo/MONDO_0017923	multiple synostoses syndrome		Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.
http://purl.obolibrary.org/obo/MONDO_0013065	premature ovarian failure 7	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.
http://purl.obolibrary.org/obo/MONDO_0013067	cataract 34 multiple types	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.
http://purl.obolibrary.org/obo/MONDO_0013071	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020336	autosomal dominant Emery-Dreifuss muscular dystrophy		Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.
http://purl.obolibrary.org/obo/MONDO_0013074	encephalocraniocutaneous lipomatosis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
http://purl.obolibrary.org/obo/MONDO_0013078	type 1 diabetes mellitus 24	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31.
http://purl.obolibrary.org/obo/MONDO_0013081	lymphoproliferative syndrome 1	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..
http://purl.obolibrary.org/obo/MONDO_0013082	Hirschsprung disease-ganglioneuroblastoma syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.
http://purl.obolibrary.org/obo/MONDO_0013087	bronchiectasis with or without elevated sweat chloride 2	http://purl.obolibrary.org/obo/MONDO_0018956	idiopathic bronchiectasis		Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.
http://purl.obolibrary.org/obo/MONDO_0013090	chromosome 19q13.11 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016917	partial deletion of the long arm of chromosome 19		The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
http://purl.obolibrary.org/obo/MONDO_0013091	glycogen storage disease IXc	http://purl.obolibrary.org/obo/MONDO_0700291	glycogen storage disease IX		A liver PhK deficiency caused by variants in the PHKG2 gene
http://purl.obolibrary.org/obo/MONDO_0013107	dermatitis, atopic, 7	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 11q13.5.
http://purl.obolibrary.org/obo/MONDO_0013112	bronchiectasis with or without elevated sweat chloride 3	http://purl.obolibrary.org/obo/MONDO_0018956	idiopathic bronchiectasis		Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.
http://purl.obolibrary.org/obo/MONDO_0013113	metaphyseal anadysplasia 2	http://purl.obolibrary.org/obo/MONDO_0015177	metaphyseal anadysplasia		Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.
http://purl.obolibrary.org/obo/MONDO_0013114	autosomal dominant nonsyndromic hearing loss 50	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.
http://purl.obolibrary.org/obo/MONDO_0013115	RIN2 syndrome	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.
http://purl.obolibrary.org/obo/MONDO_0013117	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	http://purl.obolibrary.org/obo/MONDO_0008003	autosomal dominant progressive external ophthalmoplegia		Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.
http://purl.obolibrary.org/obo/MONDO_0013118	Nijmegen breakage syndrome-like disorder	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
http://purl.obolibrary.org/obo/MONDO_0013119	autosomal recessive nonsyndromic hearing loss 77	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.
http://purl.obolibrary.org/obo/MONDO_0013123	atrial septal defect 6	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.
http://purl.obolibrary.org/obo/MONDO_0013125	CLAPO syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).
http://purl.obolibrary.org/obo/MONDO_0013127	asphyxiating thoracic dystrophy 3	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
http://purl.obolibrary.org/obo/MONDO_0013128	familial juvenile hyperuricemic nephropathy type 2	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).
http://purl.obolibrary.org/obo/MONDO_0013130	isolated microphthalmia 4	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.
http://purl.obolibrary.org/obo/MONDO_0013131	polycystic kidney disease 2	http://purl.obolibrary.org/obo/MONDO_0004691	autosomal dominant polycystic kidney disease		Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.
http://purl.obolibrary.org/obo/MONDO_0013132	hereditary spastic paraplegia 36	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.
http://purl.obolibrary.org/obo/MONDO_0013134	glaucoma 1, open angle, O	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.
http://purl.obolibrary.org/obo/MONDO_0013135	familial hemophagocytic lymphohistiocytosis 5	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.
http://purl.obolibrary.org/obo/MONDO_0013136	hereditary hypotrichosis with recurrent skin vesicles	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
http://purl.obolibrary.org/obo/MONDO_0013137	choroidal dystrophy, central areolar 2	http://purl.obolibrary.org/obo/MONDO_1040055	PRPH2-related retinopathy		Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
http://purl.obolibrary.org/obo/MONDO_0013139	neutropenia, severe congenital, 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008742	autosomal dominant severe congenital neutropenia		Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.
http://purl.obolibrary.org/obo/MONDO_0013144	hereditary antithrombin deficiency	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).
http://purl.obolibrary.org/obo/MONDO_0013145	Brugada syndrome 6	http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome		Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.
http://purl.obolibrary.org/obo/MONDO_0013146	Brugada syndrome 7	http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome		Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.
http://purl.obolibrary.org/obo/MONDO_0013147	dilated cardiomyopathy 1CC	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
http://purl.obolibrary.org/obo/MONDO_0013148	Brugada syndrome 8	http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome		Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.
http://purl.obolibrary.org/obo/MONDO_0013150	parkinsonism-dystonia, infantile	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
http://purl.obolibrary.org/obo/MONDO_0013153	inflammatory bowel disease 28	http://purl.obolibrary.org/obo/MONDO_0016542	IL10-related early-onset inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.
http://purl.obolibrary.org/obo/MONDO_0013161	autosomal recessive limb-girdle muscular dystrophy type 2O	http://purl.obolibrary.org/obo/MONDO_0000173	muscular dystrophy-dystroglycanopathy, type C		Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
http://purl.obolibrary.org/obo/MONDO_0013162	autosomal recessive limb-girdle muscular dystrophy type 2N	http://purl.obolibrary.org/obo/MONDO_0700071	myopathy caused by variation in POMT2		Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0013163	nephronophthisis-like nephropathy 1	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.
http://purl.obolibrary.org/obo/MONDO_0013164	beta-ureidopropionase deficiency	http://purl.obolibrary.org/obo/MONDO_0019238	inborn disorder of pyrimidine metabolism		Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).
http://purl.obolibrary.org/obo/MONDO_0013165	hereditary spastic paraplegia 45	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0013166	GABA aminotransaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0017684	disorder of beta and omega amino acid metabolism		Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
http://purl.obolibrary.org/obo/MONDO_0013168	dilated cardiomyopathy 1DD	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.
http://purl.obolibrary.org/obo/MONDO_0013169	chromosome 5p13 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016942	partial trisomy/tetrasomy of the short arm of chromosome 5		5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).
http://purl.obolibrary.org/obo/MONDO_0013170	cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
http://purl.obolibrary.org/obo/MONDO_0013171	purine nucleoside phosphorylase deficiency	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
http://purl.obolibrary.org/obo/MONDO_0013172	polymicrogyria with optic nerve hypoplasia	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
http://purl.obolibrary.org/obo/MONDO_0013173	intellectual disability, autosomal recessive 13	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.
http://purl.obolibrary.org/obo/MONDO_0013174	primary ciliary dyskinesia 13	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.
http://purl.obolibrary.org/obo/MONDO_0013175	retinitis pigmentosa 50	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.
http://purl.obolibrary.org/obo/MONDO_0013177	congenital muscular dystrophy due to integrin alpha-7 deficiency	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.
http://purl.obolibrary.org/obo/MONDO_0013178	congenital muscular dystrophy due to LMNA mutation	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.
http://purl.obolibrary.org/obo/MONDO_0013179	hereditary spastic paraplegia 44	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.
http://purl.obolibrary.org/obo/MONDO_0013181	amelogenesis imperfecta hypomaturation type 2A3	http://purl.obolibrary.org/obo/MONDO_0015048	amelogenesis imperfecta type 2		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.
http://purl.obolibrary.org/obo/MONDO_0013182	chromosome 17p13.3 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016950	partial duplication of the short arm of chromosome 17		17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0013183	congenital stationary night blindness 1C	http://purl.obolibrary.org/obo/MONDO_0800402	TRPM1-related retinopathy		Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.
http://purl.obolibrary.org/obo/MONDO_0013184	congenital diarrhea 5 with tufting enteropathy	http://purl.obolibrary.org/obo/MONDO_0045032	congenital secretory diarrhea		Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.
http://purl.obolibrary.org/obo/MONDO_0013186	Noonan syndrome 6	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.
http://purl.obolibrary.org/obo/MONDO_0013188	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	http://purl.obolibrary.org/obo/MONDO_0009133	cerebellar ataxia, intellectual disability, and dysequilibrium		Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.
http://purl.obolibrary.org/obo/MONDO_0013189	trichotillomania	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.
http://purl.obolibrary.org/obo/MONDO_0013191	focal segmental glomerulosclerosis 5	http://purl.obolibrary.org/obo/MONDO_0005363	inherited focal segmental glomerulosclerosis		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.
http://purl.obolibrary.org/obo/MONDO_0013195	hypertrophic cardiomyopathy 13	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.
http://purl.obolibrary.org/obo/MONDO_0013196	Lynch syndrome 8	http://purl.obolibrary.org/obo/MONDO_0005835	Lynch syndrome		Any hereditary nonpolyposis colon cancer in which the cause of the disease is a  heterozygous deletion of 3-prime exons of the EPCAM gene and intergenic regions directly upstream of the MSH2 gene, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM.
http://purl.obolibrary.org/obo/MONDO_0013197	hypertrophic cardiomyopathy 14	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.
http://purl.obolibrary.org/obo/MONDO_0013198	dilated cardiomyopathy 1EE	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.
http://purl.obolibrary.org/obo/MONDO_0013200	hypertrophic cardiomyopathy 15	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.
http://purl.obolibrary.org/obo/MONDO_0013201	Waardenburg syndrome type 4B	http://purl.obolibrary.org/obo/MONDO_0019518	Waardenburg-Shah syndrome		A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.
http://purl.obolibrary.org/obo/MONDO_0013202	Waardenburg syndrome type 4C	http://purl.obolibrary.org/obo/MONDO_0019518	Waardenburg-Shah syndrome		A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.
http://purl.obolibrary.org/obo/MONDO_0013209	metabolic dysfunction-associated steatotic liver disease	http://purl.obolibrary.org/obo/MONDO_0004790	fatty liver disease		Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver.
http://purl.obolibrary.org/obo/MONDO_0013210	autosomal recessive nonsyndromic hearing loss 25	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.
http://purl.obolibrary.org/obo/MONDO_0013211	dilated cardiomyopathy 1FF	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.
http://purl.obolibrary.org/obo/MONDO_0013212	Charcot-Marie-Tooth disease axonal type 2N	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
http://purl.obolibrary.org/obo/MONDO_0013215	autosomal recessive nonsyndromic hearing loss 79	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.
http://purl.obolibrary.org/obo/MONDO_0013216	Diamond-Blackfan anemia 9	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.
http://purl.obolibrary.org/obo/MONDO_0013217	Diamond-Blackfan anemia 10	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.
http://purl.obolibrary.org/obo/MONDO_0013218	exudative vitreoretinopathy 5	http://purl.obolibrary.org/obo/MONDO_0700231	TSPAN12-related exudative vitreoretinopathy		Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.
http://purl.obolibrary.org/obo/MONDO_0013219	hypophosphatemic rickets, autosomal recessive, 2	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.
http://purl.obolibrary.org/obo/MONDO_0013220	hemochromatosis type 2B	http://purl.obolibrary.org/obo/MONDO_0019257	hemochromatosis type 2		Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.
http://purl.obolibrary.org/obo/MONDO_0013223	autosomal recessive spondylometaphyseal dysplasia, Megarbane type	http://purl.obolibrary.org/obo/MONDO_0800080	severe spondylodysplastic dysplasia		Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.
http://purl.obolibrary.org/obo/MONDO_0013224	rhabdoid tumor predisposition syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.
http://purl.obolibrary.org/obo/MONDO_0013225	congenital generalized lipodystrophy type 4	http://purl.obolibrary.org/obo/MONDO_0006536	congenital generalized lipodystrophy		Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013226	combined immunodeficiency with faciooculoskeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).
http://purl.obolibrary.org/obo/MONDO_0013227	congenital plasminogen activator inhibitor type 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.
http://purl.obolibrary.org/obo/MONDO_0013231	Leber congenital amaurosis 14	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.
http://purl.obolibrary.org/obo/MONDO_0013232	brachydactylous dwarfism, Mseleni type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.
http://purl.obolibrary.org/obo/MONDO_0013238	chromosome 17q23.1-q23.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016915	partial deletion of the long arm of chromosome 17		17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
http://purl.obolibrary.org/obo/MONDO_0013239	hereditary spastic paraplegia 41	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.
http://purl.obolibrary.org/obo/MONDO_0013240	maturity-onset diabetes of the young type 10	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene.
http://purl.obolibrary.org/obo/MONDO_0013241	spinocerebellar ataxia type 30	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.
http://purl.obolibrary.org/obo/MONDO_0013242	maturity-onset diabetes of the young type 11	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.
http://purl.obolibrary.org/obo/MONDO_0013244	brachydactyly type E2	http://purl.obolibrary.org/obo/MONDO_0019677	brachydactyly type E		Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.
http://purl.obolibrary.org/obo/MONDO_0013248	Fanconi anemia complementation group O	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.
http://purl.obolibrary.org/obo/MONDO_0013249	autosomal recessive nonsyndromic hearing loss 84A	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.
http://purl.obolibrary.org/obo/MONDO_0013250	autosomal recessive nonsyndromic hearing loss 85	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.
http://purl.obolibrary.org/obo/MONDO_0013252	Warsaw breakage syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.
http://purl.obolibrary.org/obo/MONDO_0013254	microcephaly, seizures, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
http://purl.obolibrary.org/obo/MONDO_0013256	chromosome 15q24 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
http://purl.obolibrary.org/obo/MONDO_0013259	Oguchi disease-2	http://purl.obolibrary.org/obo/MONDO_0019152	Oguchi disease		Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.
http://purl.obolibrary.org/obo/MONDO_0013261	dilated cardiomyopathy 1R	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
http://purl.obolibrary.org/obo/MONDO_0013262	dilated cardiomyopathy 1S	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
http://purl.obolibrary.org/obo/MONDO_0013263	retinitis pigmentosa 54	http://purl.obolibrary.org/obo/MONDO_0800404	PCARE-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene.
http://purl.obolibrary.org/obo/MONDO_0013264	amyotrophic lateral sclerosis type 12	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.
http://purl.obolibrary.org/obo/MONDO_0013267	distal 16p11.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016894	partial deletion of the short arm of chromosome 16		Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
http://purl.obolibrary.org/obo/MONDO_0013268	frontonasal dysplasia with alopecia and genital anomaly	http://purl.obolibrary.org/obo/MONDO_0016643	frontonasal dysplasia		Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
http://purl.obolibrary.org/obo/MONDO_0013269	autosomal recessive nonsyndromic hearing loss 91	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.
http://purl.obolibrary.org/obo/MONDO_0013272	chromosome 14q11-q22 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016912	partial deletion of the long arm of chromosome 14		14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0013273	chromosome 16p13.3 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016949	partial duplication of the short arm of chromosome 16		16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.
http://purl.obolibrary.org/obo/MONDO_0013274	retinitis pigmentosa 51	http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.
http://purl.obolibrary.org/obo/MONDO_0013276	Reynolds syndrome	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).
http://purl.obolibrary.org/obo/MONDO_0013279	long QT syndrome 13	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.
http://purl.obolibrary.org/obo/MONDO_0013280	myxoid liposarcoma	http://purl.obolibrary.org/obo/MONDO_0020561	myxoid/round cell liposarcoma		A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.
http://purl.obolibrary.org/obo/MONDO_0013282	alpha 1-antitrypsin deficiency	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.
http://purl.obolibrary.org/obo/MONDO_0013291	glycogen storage disease XV	http://purl.obolibrary.org/obo/MONDO_0100314	GYG1-related disorder of glycogen metabolism		Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
http://purl.obolibrary.org/obo/MONDO_0013292	chromosome 4q21 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016903	partial deletion of the long arm of chromosome 4		The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
http://purl.obolibrary.org/obo/MONDO_0013293	isolated microphthalmia 6	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos.
http://purl.obolibrary.org/obo/MONDO_0013294	dermatitis, atopic, 8	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1.
http://purl.obolibrary.org/obo/MONDO_0013295	dermatitis, atopic, 9	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24.
http://purl.obolibrary.org/obo/MONDO_0013297	autosomal dominant limb-girdle muscular dystrophy type 1H	http://purl.obolibrary.org/obo/MONDO_0015151	muscular dystrophy, limb-girdle, autosomal dominant		Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.
http://purl.obolibrary.org/obo/MONDO_0013298	chromosome 17q21.31 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016967	partial duplication of the long arm of chromosome 17		The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.
http://purl.obolibrary.org/obo/MONDO_0013300	commissural facial cleft	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0013301	aromatase deficiency	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
http://purl.obolibrary.org/obo/MONDO_0013302	nephronophthisis 11	http://purl.obolibrary.org/obo/MONDO_0019394	Senior-Boichis syndrome		A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
http://purl.obolibrary.org/obo/MONDO_0013304	von Willebrand disease 2	http://purl.obolibrary.org/obo/MONDO_0019565	hereditary von Willebrand disease		Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).
http://purl.obolibrary.org/obo/MONDO_0013305	autosomal dominant nonsyndromic hearing loss 51	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.
http://purl.obolibrary.org/obo/MONDO_0013310	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	http://purl.obolibrary.org/obo/MONDO_0018479	congenital adrenal hyperplasia		Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.
http://purl.obolibrary.org/obo/MONDO_0013311	ectodermal dysplasia-syndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
http://purl.obolibrary.org/obo/MONDO_0013312	retinitis pigmentosa 55	http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.
http://purl.obolibrary.org/obo/MONDO_0013314	retinitis pigmentosa 56	http://purl.obolibrary.org/obo/MONDO_0700241	IMPG2-related recessive retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.
http://purl.obolibrary.org/obo/MONDO_0013315	retinitis pigmentosa 57	http://purl.obolibrary.org/obo/MONDO_1040034	PDE6G-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.
http://purl.obolibrary.org/obo/MONDO_0013316	occult macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms.
http://purl.obolibrary.org/obo/MONDO_0013320	chromosome 16p12.2-p11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016894	partial deletion of the short arm of chromosome 16		16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0013327	primary hyperoxaluria type 3	http://purl.obolibrary.org/obo/MONDO_0002474	primary hyperoxaluria		Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.
http://purl.obolibrary.org/obo/MONDO_0013328	retinitis pigmentosa 58	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.
http://purl.obolibrary.org/obo/MONDO_0013334	cocoon syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.
http://purl.obolibrary.org/obo/MONDO_0013336	chromosome 19p13.13 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016897	partial deletion of the short arm of chromosome 19		19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).
http://purl.obolibrary.org/obo/MONDO_0013338	Charcot-Marie-Tooth disease recessive intermediate B	http://purl.obolibrary.org/obo/MONDO_0017058	autosomal recessive intermediate Charcot-Marie-Tooth disease		Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
http://purl.obolibrary.org/obo/MONDO_0013339	dilated cardiomyopathy 1GG	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.
http://purl.obolibrary.org/obo/MONDO_0013341	methylmalonic acidemia due to transcobalamin receptor defect	http://purl.obolibrary.org/obo/MONDO_0002012	methylmalonic acidemia		Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.
http://purl.obolibrary.org/obo/MONDO_0013342	hereditary spastic paraplegia 48	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.
http://purl.obolibrary.org/obo/MONDO_0013343	C1Q deficiency	http://purl.obolibrary.org/obo/MONDO_0015699	immunodeficiency due to a classical component pathway complement deficiency		C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.
http://purl.obolibrary.org/obo/MONDO_0013348	cone-rod dystrophy 15	http://purl.obolibrary.org/obo/MONDO_0700375	CDHR1-related retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.
http://purl.obolibrary.org/obo/MONDO_0013352	intellectual disability-severe speech delay-mild dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		An autosomal dominant form of syndromic intellectual disability caused by mutation in the FOXP1 gene. It is characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family).
http://purl.obolibrary.org/obo/MONDO_0013354	spastic ataxia 4	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.
http://purl.obolibrary.org/obo/MONDO_0013357	chromosome 17q11.2 deletion syndrome, 1.4Mb	http://purl.obolibrary.org/obo/MONDO_0016915	partial deletion of the long arm of chromosome 17		A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
http://purl.obolibrary.org/obo/MONDO_0013361	congenital prothrombin deficiency	http://purl.obolibrary.org/obo/MONDO_0015722	congenital vitamin K-dependent coagulation factors deficiency		Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.
http://purl.obolibrary.org/obo/MONDO_0013365	autosomal recessive nonsyndromic hearing loss 83	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.
http://purl.obolibrary.org/obo/MONDO_0013367	long QT syndrome 2	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
http://purl.obolibrary.org/obo/MONDO_0013369	hypertrophic cardiomyopathy 7	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.
http://purl.obolibrary.org/obo/MONDO_0013370	long QT syndrome 6	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.
http://purl.obolibrary.org/obo/MONDO_0013371	dilated cardiomyopathy 1U	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013372	long QT syndrome 5	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
http://purl.obolibrary.org/obo/MONDO_0013373	dilated cardiomyopathy 1V	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.
http://purl.obolibrary.org/obo/MONDO_0013377	isolated microphthalmia 7	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.
http://purl.obolibrary.org/obo/MONDO_0013378	orofacial cleft 10	http://purl.obolibrary.org/obo/MONDO_0016044	cleft lip/palate		Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.
http://purl.obolibrary.org/obo/MONDO_0013379	Noonan syndrome 7	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.
http://purl.obolibrary.org/obo/MONDO_0013386	autosomal recessive nonsyndromic hearing loss 74	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.
http://purl.obolibrary.org/obo/MONDO_0013389	developmental and epileptic encephalopathy, 12	http://purl.obolibrary.org/obo/MONDO_0100455	neonatal-onset developmental and epileptic encephalopathy		An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.
http://purl.obolibrary.org/obo/MONDO_0013390	autosomal recessive limb-girdle muscular dystrophy type 2Q	http://purl.obolibrary.org/obo/MONDO_1060109	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder		A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
http://purl.obolibrary.org/obo/MONDO_0013392	autosomal recessive spinocerebellar ataxia 10	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.
http://purl.obolibrary.org/obo/MONDO_0013395	retinitis pigmentosa 4	http://purl.obolibrary.org/obo/MONDO_0700380	RHO-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.
http://purl.obolibrary.org/obo/MONDO_0013396	chromosome 1p32-p31 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
http://purl.obolibrary.org/obo/MONDO_0013400	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
http://purl.obolibrary.org/obo/MONDO_0013401	hereditary spastic paraplegia 51	http://purl.obolibrary.org/obo/MONDO_0100176	AP-4 deficiency syndrome		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.
http://purl.obolibrary.org/obo/MONDO_0013402	retinitis pigmentosa 27	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.
http://purl.obolibrary.org/obo/MONDO_0013404	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	http://purl.obolibrary.org/obo/MONDO_0000351	disorder of methionine catabolism		Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.
http://purl.obolibrary.org/obo/MONDO_0013405	retinitis pigmentosa 49	http://purl.obolibrary.org/obo/MONDO_0800405	CNGA1-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.
http://purl.obolibrary.org/obo/MONDO_0013406	age related macular degeneration 6	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.
http://purl.obolibrary.org/obo/MONDO_0013407	retinitis pigmentosa 47	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene.
http://purl.obolibrary.org/obo/MONDO_0013409	age related macular degeneration 5	http://purl.obolibrary.org/obo/MONDO_0100174	age related macular degeneration, susceptibility to		An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.
http://purl.obolibrary.org/obo/MONDO_0013411	cataract 16 multiple types	http://purl.obolibrary.org/obo/MONDO_0020379	early-onset zonular cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.
http://purl.obolibrary.org/obo/MONDO_0013412	hypertrophic cardiomyopathy 9	http://purl.obolibrary.org/obo/MONDO_0100494	autosomal dominant titinopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.
http://purl.obolibrary.org/obo/MONDO_0013413	retinitis pigmentosa 45	http://purl.obolibrary.org/obo/MONDO_0800403	CNGB1-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.
http://purl.obolibrary.org/obo/MONDO_0013414	retinitis pigmentosa 44	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.
http://purl.obolibrary.org/obo/MONDO_0013416	age related macular degeneration 8	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.
http://purl.obolibrary.org/obo/MONDO_0013417	complement component 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency		A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.
http://purl.obolibrary.org/obo/MONDO_0013419	complement component C1s deficiency	http://purl.obolibrary.org/obo/MONDO_0015699	immunodeficiency due to a classical component pathway complement deficiency		A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
http://purl.obolibrary.org/obo/MONDO_0013420	age related macular degeneration 12	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.
http://purl.obolibrary.org/obo/MONDO_0013421	type II complement component 8 deficiency	http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency		Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.
http://purl.obolibrary.org/obo/MONDO_0013422	type I complement component 8 deficiency	http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency		Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.
http://purl.obolibrary.org/obo/MONDO_0013423	immunodeficiency due to MASP-2 deficiency	http://purl.obolibrary.org/obo/MONDO_0044209	disorder of lectin complement activation pathway		Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0013424	3p- syndrome	http://purl.obolibrary.org/obo/MONDO_0016885	partial deletion of the short arm of chromosome 3		Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
http://purl.obolibrary.org/obo/MONDO_0013425	retinitis pigmentosa 20	http://purl.obolibrary.org/obo/MONDO_0100368	RPE65-related recessive retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.
http://purl.obolibrary.org/obo/MONDO_0013429	retinitis pigmentosa 40	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.
http://purl.obolibrary.org/obo/MONDO_0013433	primary sclerosing cholangitis	http://purl.obolibrary.org/obo/MONDO_0018646	sclerosing cholangitis		Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.
http://purl.obolibrary.org/obo/MONDO_0013434	primary ciliary dyskinesia 14	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.
http://purl.obolibrary.org/obo/MONDO_0013435	primary ciliary dyskinesia 15	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.
http://purl.obolibrary.org/obo/MONDO_0013436	retinitis pigmentosa 39	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.
http://purl.obolibrary.org/obo/MONDO_0013437	retinitis pigmentosa 43	http://purl.obolibrary.org/obo/MONDO_0700224	PDE6A-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.
http://purl.obolibrary.org/obo/MONDO_0013438	pontocerebellar hypoplasia type 2D	http://purl.obolibrary.org/obo/MONDO_0016759	pontocerebellar hypoplasia type 2		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.
http://purl.obolibrary.org/obo/MONDO_0013439	congenital bile acid synthesis defect 3	http://purl.obolibrary.org/obo/MONDO_1060107	CYP7B1-related disorder of oxysterol accumulation		Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
http://purl.obolibrary.org/obo/MONDO_0013440	autosomal recessive limb-girdle muscular dystrophy type 2P	http://purl.obolibrary.org/obo/MONDO_0000173	muscular dystrophy-dystroglycanopathy, type C		Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.
http://purl.obolibrary.org/obo/MONDO_0013441	asphyxiating thoracic dystrophy 4	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
http://purl.obolibrary.org/obo/MONDO_0013442	nephronophthisis 12	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.
http://purl.obolibrary.org/obo/MONDO_0013444	nephronophthisis 9	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.
http://purl.obolibrary.org/obo/MONDO_0013445	complement component 9 deficiency	http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency		Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.
http://purl.obolibrary.org/obo/MONDO_0013446	Leber congenital amaurosis 6	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.
http://purl.obolibrary.org/obo/MONDO_0013447	retinitis pigmentosa 48	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.
http://purl.obolibrary.org/obo/MONDO_0013449	Leber congenital amaurosis 7	http://purl.obolibrary.org/obo/MONDO_1040064	CRX-related retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.
http://purl.obolibrary.org/obo/MONDO_0013450	congenital stationary night blindness 1D	http://purl.obolibrary.org/obo/MONDO_0016293	congenital stationary night blindness		Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.
http://purl.obolibrary.org/obo/MONDO_0013452	multisystemic smooth muscle dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A spectrum of conditions caused by monoallelic pathogenic variants in ACTA2. Phenotypes can present in isolation or in combination and can include, but are not limited to: cardiovascular manifestations (heritable thoracic aortic aneurysm and dissection, coronary artery disease, patent ductus arteriosus, aortic pulmonary window, and/or early-onset atherosclerosis), smooth muscle cell dysfunction (hypoperistalsis, hydronephrosis and hydroureter, megacystis), ophthalmological manifestations (retinal vessel disease, congenital mydriasis and iris flocculi/hypoplasia), and a Moyamoya-like cerebrovascular disease.
http://purl.obolibrary.org/obo/MONDO_0013453	Leber congenital amaurosis 8	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.
http://purl.obolibrary.org/obo/MONDO_0013454	Leber congenital amaurosis 11	http://purl.obolibrary.org/obo/MONDO_1040051	IMPDH1-related retinopathy		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.
http://purl.obolibrary.org/obo/MONDO_0013455	hypertrophic cardiomyopathy 16	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.
http://purl.obolibrary.org/obo/MONDO_0013457	Leber congenital amaurosis 15	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.
http://purl.obolibrary.org/obo/MONDO_0013459	osteogenesis imperfecta type 10	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.
http://purl.obolibrary.org/obo/MONDO_0013460	osteogenesis imperfecta type 12	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.
http://purl.obolibrary.org/obo/MONDO_0013461	inosine triphosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.
http://purl.obolibrary.org/obo/MONDO_0013463	congenital heart defects, multiple types, 6	http://purl.obolibrary.org/obo/MONDO_0000119	congenital heart defects, multiple types		Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.
http://purl.obolibrary.org/obo/MONDO_0013464	episodic ataxia type 5	http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia		Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.
http://purl.obolibrary.org/obo/MONDO_0013465	achromatopsia 4	http://purl.obolibrary.org/obo/MONDO_0800392	GNAT2-related retinopathy		Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.
http://purl.obolibrary.org/obo/MONDO_0013468	retinitis pigmentosa 59	http://purl.obolibrary.org/obo/MONDO_1010097	DHDDS-related syndrome		Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.
http://purl.obolibrary.org/obo/MONDO_0013469	retinitis pigmentosa 38	http://purl.obolibrary.org/obo/MONDO_0800394	MERTK-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene.
http://purl.obolibrary.org/obo/MONDO_0013471	autosomal recessive nonsyndromic hearing loss 61	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.
http://purl.obolibrary.org/obo/MONDO_0013474	hypertrophic cardiomyopathy 17	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.
http://purl.obolibrary.org/obo/MONDO_0013475	hypertrophic cardiomyopathy 18	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.
http://purl.obolibrary.org/obo/MONDO_0013476	hypertrophic cardiomyopathy 19	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.
http://purl.obolibrary.org/obo/MONDO_0013477	hypertrophic cardiomyopathy 20	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
http://purl.obolibrary.org/obo/MONDO_0013479	dilated cardiomyopathy 1HH	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.
http://purl.obolibrary.org/obo/MONDO_0013481	chromosome 13q14 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016911	partial deletion of the long arm of chromosome 13		Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.
http://purl.obolibrary.org/obo/MONDO_0013484	cataract 36	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.
http://purl.obolibrary.org/obo/MONDO_0013485	spinocerebellar ataxia type 35	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.
http://purl.obolibrary.org/obo/MONDO_0013489	autosomal recessive nonsyndromic hearing loss 89	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.
http://purl.obolibrary.org/obo/MONDO_0013495	autosomal recessive congenital ichthyosis 8	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.
http://purl.obolibrary.org/obo/MONDO_0013499	Fanconi anemia complementation group P	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.
http://purl.obolibrary.org/obo/MONDO_0013501	frontotemporal dementia and/or amyotrophic lateral sclerosis 6	http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.
http://purl.obolibrary.org/obo/MONDO_0013512	hemoglobin H disease	http://purl.obolibrary.org/obo/MONDO_0100563	digenic alpha thalassemia spectrum		Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).
http://purl.obolibrary.org/obo/MONDO_0013514	hypotrichosis 3	http://purl.obolibrary.org/obo/MONDO_0019575	hypotrichosis simplex of the scalp		Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.
http://purl.obolibrary.org/obo/MONDO_0013515	osteogenesis imperfecta type 6	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.
http://purl.obolibrary.org/obo/MONDO_0013516	retinitis pigmentosa 60	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.
http://purl.obolibrary.org/obo/MONDO_0013523	Nestor-Guillermo progeria syndrome	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life.
http://purl.obolibrary.org/obo/MONDO_0013525	primary ciliary dyskinesia 16	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.
http://purl.obolibrary.org/obo/MONDO_0013529	catecholaminergic polymorphic ventricular tachycardia 3	http://purl.obolibrary.org/obo/MONDO_0017990	catecholaminergic polymorphic ventricular tachycardia		Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.
http://purl.obolibrary.org/obo/MONDO_0013531	PSPH deficiency	http://purl.obolibrary.org/obo/MONDO_0018162	neurometabolic disorder due to serine deficiency		3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.
http://purl.obolibrary.org/obo/MONDO_0013537	autosomal recessive nonsyndromic hearing loss 29	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.
http://purl.obolibrary.org/obo/MONDO_0013539	hypotonia-failure to thrive-microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
http://purl.obolibrary.org/obo/MONDO_0013540	deafness-lymphedema-leukemia syndrome	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.
http://purl.obolibrary.org/obo/MONDO_0013541	complex cortical dysplasia with other brain malformations 1	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.
http://purl.obolibrary.org/obo/MONDO_0013546	mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
http://purl.obolibrary.org/obo/MONDO_0013547	mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.
http://purl.obolibrary.org/obo/MONDO_0013551	hereditary spastic paraplegia 47	http://purl.obolibrary.org/obo/MONDO_0100176	AP-4 deficiency syndrome		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.
http://purl.obolibrary.org/obo/MONDO_0013552	hereditary spastic paraplegia 52	http://purl.obolibrary.org/obo/MONDO_0100176	AP-4 deficiency syndrome		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.
http://purl.obolibrary.org/obo/MONDO_0013553	immunodeficiency-centromeric instability-facial anomalies syndrome 2	http://purl.obolibrary.org/obo/MONDO_0000133	immunodeficiency-centromeric instability-facial anomalies syndrome		Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.
http://purl.obolibrary.org/obo/MONDO_0013555	Hermansky-Pudlak syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016502	Hermansky-Pudlak syndrome without pulmonary fibrosis		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.
http://purl.obolibrary.org/obo/MONDO_0013556	Hermansky-Pudlak syndrome 4	http://purl.obolibrary.org/obo/MONDO_0016501	Hermansky-Pudlak syndrome with pulmonary fibrosis		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.
http://purl.obolibrary.org/obo/MONDO_0013557	Hermansky-Pudlak syndrome 5	http://purl.obolibrary.org/obo/MONDO_0016502	Hermansky-Pudlak syndrome without pulmonary fibrosis		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.
http://purl.obolibrary.org/obo/MONDO_0013558	Hermansky-Pudlak syndrome 6	http://purl.obolibrary.org/obo/MONDO_0016502	Hermansky-Pudlak syndrome without pulmonary fibrosis		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.
http://purl.obolibrary.org/obo/MONDO_0013559	Hermansky-Pudlak syndrome 7	http://purl.obolibrary.org/obo/MONDO_0019312	Hermansky-Pudlak syndrome		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.
http://purl.obolibrary.org/obo/MONDO_0013560	Hermansky-Pudlak syndrome 8	http://purl.obolibrary.org/obo/MONDO_0019312	Hermansky-Pudlak syndrome		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.
http://purl.obolibrary.org/obo/MONDO_0013563	multiple congenital anomalies-hypotonia-seizures syndrome 1	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.
http://purl.obolibrary.org/obo/MONDO_0013565	Fanconi anemia complementation group G	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Fanconi anemia caused by mutations of the FANCG gene.
http://purl.obolibrary.org/obo/MONDO_0013566	Fanconi anemia complementation group L	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.
http://purl.obolibrary.org/obo/MONDO_0013567	atrial septal defect 3	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.
http://purl.obolibrary.org/obo/MONDO_0013569	short-rib thoracic dysplasia 7 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
http://purl.obolibrary.org/obo/MONDO_0013571	acatalasia	http://purl.obolibrary.org/obo/MONDO_0100306	disorder of defective peroxisome oxidative status		A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.
http://purl.obolibrary.org/obo/MONDO_0013576	recurrent infections associated with rare immunoglobulin isotypes deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.
http://purl.obolibrary.org/obo/MONDO_0013577	Lipedema	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.
http://purl.obolibrary.org/obo/MONDO_0013580	pyruvate dehydrogenase E1-beta deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	pyruvate dehydrogenase deficiency		Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
http://purl.obolibrary.org/obo/MONDO_0013582	mosaic variegated aneuploidy syndrome 2	http://purl.obolibrary.org/obo/MONDO_0000141	mosaic variegated aneuploidy syndrome		Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.
http://purl.obolibrary.org/obo/MONDO_0013587	glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	http://purl.obolibrary.org/obo/MONDO_0016527	glycogen storage disease due to lactate dehydrogenase deficiency		A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0013589	focal segmental glomerulosclerosis 6	http://purl.obolibrary.org/obo/MONDO_0005363	inherited focal segmental glomerulosclerosis		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.
http://purl.obolibrary.org/obo/MONDO_0013591	epiphyseal dysplasia, multiple, 6	http://purl.obolibrary.org/obo/MONDO_0015627	multiple epiphyseal dysplasia due to collagen 9 anomaly		Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.
http://purl.obolibrary.org/obo/MONDO_0013593	autosomal dominant nonsyndromic hearing loss 64	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.
http://purl.obolibrary.org/obo/MONDO_0013594	spinocerebellar ataxia type 36	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.
http://purl.obolibrary.org/obo/MONDO_0013597	platelet-type bleeding disorder 14	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.
http://purl.obolibrary.org/obo/MONDO_0013598	myostatin-related muscle hypertrophy	http://purl.obolibrary.org/obo/MONDO_0003939	muscle tissue disorder		Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.
http://purl.obolibrary.org/obo/MONDO_0013600	insomnia	http://purl.obolibrary.org/obo/MONDO_0100081	sleep disorder		A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.
http://purl.obolibrary.org/obo/MONDO_0013606	Hermansky-Pudlak syndrome 9	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.
http://purl.obolibrary.org/obo/MONDO_0013608	Joubert syndrome 13	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013610	retinitis pigmentosa 61	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013611	retinitis pigmentosa 62	http://purl.obolibrary.org/obo/MONDO_0700229	MAK-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.
http://purl.obolibrary.org/obo/MONDO_0013613	Leber congenital amaurosis 16	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.
http://purl.obolibrary.org/obo/MONDO_0013620	congenital myasthenic syndrome 16	http://purl.obolibrary.org/obo/MONDO_0100121	SCN4A-related myopathy, autosomal recessive		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.
http://purl.obolibrary.org/obo/MONDO_0013623	platelet-type bleeding disorder 11	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.
http://purl.obolibrary.org/obo/MONDO_0013625	Parkinson disease 17	http://purl.obolibrary.org/obo/MONDO_0008199	late-onset Parkinson disease		Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.
http://purl.obolibrary.org/obo/MONDO_0013632	autosomal dominant nonsyndromic hearing loss 33	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.
http://purl.obolibrary.org/obo/MONDO_0013638	Warburg micro syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016649	Warburg micro syndrome		Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.
http://purl.obolibrary.org/obo/MONDO_0013641	Warburg micro syndrome 2	http://purl.obolibrary.org/obo/MONDO_0016649	Warburg micro syndrome		Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.
http://purl.obolibrary.org/obo/MONDO_0013642	holoprosencephaly 11	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.
http://purl.obolibrary.org/obo/MONDO_0013644	Charcot-Marie-Tooth disease axonal type 2O	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.
http://purl.obolibrary.org/obo/MONDO_0013645	autosomal recessive spinocerebellar ataxia 11	http://purl.obolibrary.org/obo/MONDO_0020047	autosomal recessive syndromic cerebellar ataxia		Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.
http://purl.obolibrary.org/obo/MONDO_0013646	chromosome 8q21.11 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
http://purl.obolibrary.org/obo/MONDO_0013649	hypotrichosis 9	http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex		A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.
http://purl.obolibrary.org/obo/MONDO_0013650	hypotrichosis 10	http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex		A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.
http://purl.obolibrary.org/obo/MONDO_0013661	combined malonic and methylmalonic acidemia	http://purl.obolibrary.org/obo/MONDO_0002012	methylmalonic acidemia		Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
http://purl.obolibrary.org/obo/MONDO_0013662	Barrett esophagus	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)
http://purl.obolibrary.org/obo/MONDO_0013668	tetrasomy 18p	http://purl.obolibrary.org/obo/MONDO_0016951	partial trisomy/tetrasomy of the short arm of chromosome 18		Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.
http://purl.obolibrary.org/obo/MONDO_0013674	neurodegeneration with brain iron accumulation 4	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.
http://purl.obolibrary.org/obo/MONDO_0013675	multiple mitochondrial dysfunctions syndrome 2	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.
http://purl.obolibrary.org/obo/MONDO_0013679	sclerosteosis 2	http://purl.obolibrary.org/obo/MONDO_0017838	sclerosteosis		Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.
http://purl.obolibrary.org/obo/MONDO_0013681	alpha-methylacyl-CoA racemase deficiency	http://purl.obolibrary.org/obo/MONDO_0019233	disorder of peroxisomal beta oxidation		A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.
http://purl.obolibrary.org/obo/MONDO_0013687	autosomal recessive spinocerebellar ataxia 12	http://purl.obolibrary.org/obo/MONDO_0018446	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome		Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.
http://purl.obolibrary.org/obo/MONDO_0013688	linear and whorled nevoid hypermelanosis	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.
http://purl.obolibrary.org/obo/MONDO_0013695	colorectal cancer, hereditary nonpolyposis, type 6	http://purl.obolibrary.org/obo/MONDO_0018630	hereditary nonpolyposis colon cancer		Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.
http://purl.obolibrary.org/obo/MONDO_0013699	Lynch syndrome 4	http://purl.obolibrary.org/obo/MONDO_0005835	Lynch syndrome		An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers.
http://purl.obolibrary.org/obo/MONDO_0013710	Lynch syndrome 5	http://purl.obolibrary.org/obo/MONDO_0005835	Lynch syndrome		An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH6 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages.
http://purl.obolibrary.org/obo/MONDO_0013715	amyotrophic lateral sclerosis type 16	http://purl.obolibrary.org/obo/MONDO_0017593	juvenile amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.
http://purl.obolibrary.org/obo/MONDO_0013717	asphyxiating thoracic dystrophy 5	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.
http://purl.obolibrary.org/obo/MONDO_0013718	nephronophthisis 13	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
http://purl.obolibrary.org/obo/MONDO_0013720	complement component 4b deficiency	http://purl.obolibrary.org/obo/MONDO_0015699	immunodeficiency due to a classical component pathway complement deficiency		Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.
http://purl.obolibrary.org/obo/MONDO_0013721	complement component 4a deficiency	http://purl.obolibrary.org/obo/MONDO_0015699	immunodeficiency due to a classical component pathway complement deficiency		Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.
http://purl.obolibrary.org/obo/MONDO_0013722	hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.
http://purl.obolibrary.org/obo/MONDO_0013725	colorectal cancer, hereditary nonpolyposis, type 7	http://purl.obolibrary.org/obo/MONDO_0018630	hereditary nonpolyposis colon cancer		Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.
http://purl.obolibrary.org/obo/MONDO_0013730	graft versus host disease	http://purl.obolibrary.org/obo/MONDO_0700222	disease related to hematopoietic stem cell transplant		An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.
http://purl.obolibrary.org/obo/MONDO_0013737	hereditary spastic paraplegia 46	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.
http://purl.obolibrary.org/obo/MONDO_0013738	autosomal recessive nonsyndromic hearing loss 96	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.
http://purl.obolibrary.org/obo/MONDO_0013741	familial temporal lobe epilepsy 5	http://purl.obolibrary.org/obo/MONDO_0800493	familial mesial temporal lobe epilepsy		A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.
http://purl.obolibrary.org/obo/MONDO_0013744	cataract 37	http://purl.obolibrary.org/obo/MONDO_0020374	cerulean cataract		A cataract that has material basis in variation in the region 12q24.2-q24.3.
http://purl.obolibrary.org/obo/MONDO_0013745	Joubert syndrome 14	http://purl.obolibrary.org/obo/MONDO_0016364	Joubert syndrome with ocular defect		Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.
http://purl.obolibrary.org/obo/MONDO_0013750	atrial septal defect 8	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.
http://purl.obolibrary.org/obo/MONDO_0013753	Charcot-Marie-Tooth disease axonal type 2P	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.
http://purl.obolibrary.org/obo/MONDO_0013758	Charcot-Marie-Tooth disease dominant intermediate E	http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease		Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.
http://purl.obolibrary.org/obo/MONDO_0013762	lipoic acid synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	pyruvate dehydrogenase deficiency		Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0013763	Joubert syndrome 15	http://purl.obolibrary.org/obo/MONDO_0016364	Joubert syndrome with ocular defect		Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.
http://purl.obolibrary.org/obo/MONDO_0013764	Joubert syndrome 16	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.
http://purl.obolibrary.org/obo/MONDO_0013766	familial cold autoinflammatory syndrome 3	http://purl.obolibrary.org/obo/MONDO_0018768	familial cold autoinflammatory syndrome		A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
http://purl.obolibrary.org/obo/MONDO_0013767	autoimmune lymphoproliferative syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome		RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.
http://purl.obolibrary.org/obo/MONDO_0013770	atrial septal defect 9	http://purl.obolibrary.org/obo/MONDO_0100540	GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes		Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.
http://purl.obolibrary.org/obo/MONDO_0013776	spastic ataxia 5	http://purl.obolibrary.org/obo/MONDO_0700372	AFG3L2-related optic atrophy and/or spastic ataxia spectrum		Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
http://purl.obolibrary.org/obo/MONDO_0013780	retinitis pigmentosa 63	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.
http://purl.obolibrary.org/obo/MONDO_0013786	cone-rod dystrophy 16	http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.
http://purl.obolibrary.org/obo/MONDO_0013788	Usher syndrome type 3B	http://purl.obolibrary.org/obo/MONDO_0016485	Usher syndrome type 3		Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.
http://purl.obolibrary.org/obo/MONDO_0013792	intracerebral hemorrhage	http://purl.obolibrary.org/obo/MONDO_1060199	hemorrhagic stroke		A cerebrovascular disorder characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.
http://purl.obolibrary.org/obo/MONDO_0013796	chromosome 17q12 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016967	partial duplication of the long arm of chromosome 17		17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
http://purl.obolibrary.org/obo/MONDO_0013797	chromosome 17q12 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016915	partial deletion of the long arm of chromosome 17		17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.
http://purl.obolibrary.org/obo/MONDO_0013802	infantile cerebellar-retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.
http://purl.obolibrary.org/obo/MONDO_0013807	congenital stationary night blindness 1E	http://purl.obolibrary.org/obo/MONDO_0800396	GPR179-related retinopathy		Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.
http://purl.obolibrary.org/obo/MONDO_0013808	Maffucci syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.
http://purl.obolibrary.org/obo/MONDO_0013813	dystonia 21	http://purl.obolibrary.org/obo/MONDO_0000476	generalized dystonia		Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.
http://purl.obolibrary.org/obo/MONDO_0013823	autosomal dominant nonsyndromic hearing loss 4B	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.
http://purl.obolibrary.org/obo/MONDO_0013824	Joubert syndrome 17	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.
http://purl.obolibrary.org/obo/MONDO_0013825	congenital diarrhea 6	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.
http://purl.obolibrary.org/obo/MONDO_0013826	autosomal recessive nonsyndromic hearing loss 86	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.
http://purl.obolibrary.org/obo/MONDO_0013827	hyperekplexia 3	http://purl.obolibrary.org/obo/MONDO_0021022	hereditary hyperekplexia		Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
http://purl.obolibrary.org/obo/MONDO_0013828	hyperekplexia 2	http://purl.obolibrary.org/obo/MONDO_0021022	hereditary hyperekplexia		Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.
http://purl.obolibrary.org/obo/MONDO_0013842	cortisone reductase deficiency 2	http://purl.obolibrary.org/obo/MONDO_0000193	cortisone reductase deficiency		Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.
http://purl.obolibrary.org/obo/MONDO_0013847	chromosome 16p11.2 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016949	partial duplication of the short arm of chromosome 16		Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
http://purl.obolibrary.org/obo/MONDO_0013848	dilated cardiomyopathy 2B	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.
http://purl.obolibrary.org/obo/MONDO_0013852	hypertrophic cardiomyopathy 21	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.
http://purl.obolibrary.org/obo/MONDO_0013853	pontocerebellar hypoplasia type 1B	http://purl.obolibrary.org/obo/MONDO_0016396	pontocerebellar hypoplasia type 1		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.
http://purl.obolibrary.org/obo/MONDO_0013854	primary ciliary dyskinesia 17	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.
http://purl.obolibrary.org/obo/MONDO_0013858	pontine tegmental cap dysplasia	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.
http://purl.obolibrary.org/obo/MONDO_0013859	cataract 38	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.
http://purl.obolibrary.org/obo/MONDO_0013866	neuronal ceroid lipofuscinosis 11	http://purl.obolibrary.org/obo/MONDO_0019260	adult neuronal ceroid lipofuscinosis		Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.
http://purl.obolibrary.org/obo/MONDO_0013867	Brown-Vialetto-van Laere syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008891	riboflavin transporter deficiency		Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.
http://purl.obolibrary.org/obo/MONDO_0013869	adenine phosphoribosyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
http://purl.obolibrary.org/obo/MONDO_0013873	IMAGe syndrome	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0013875	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	http://purl.obolibrary.org/obo/MONDO_0100548	SERAC1-related neurological disorder		Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.
http://purl.obolibrary.org/obo/MONDO_0013883	congenital myasthenic syndrome 13	http://purl.obolibrary.org/obo/MONDO_0000182	congenital myasthenic syndrome with tubular aggregates		Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.
http://purl.obolibrary.org/obo/MONDO_0013886	cerebellar dysfunction with variable cognitive and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
http://purl.obolibrary.org/obo/MONDO_0013891	amyotrophic lateral sclerosis type 18	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013896	Joubert syndrome 18	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.
http://purl.obolibrary.org/obo/MONDO_0013898	karyomegalic interstitial nephritis	http://purl.obolibrary.org/obo/MONDO_0005334	hereditary nephritis		Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013905	autosomal recessive spinocerebellar ataxia 13	http://purl.obolibrary.org/obo/MONDO_0018189	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome		Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.
http://purl.obolibrary.org/obo/MONDO_0013906	amelogenesis imperfecta hypomaturation type 2A4	http://purl.obolibrary.org/obo/MONDO_0015048	amelogenesis imperfecta type 2		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.
http://purl.obolibrary.org/obo/MONDO_0013907	bilateral generalized polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0018764	microcephalic primordial dwarfism due to RTTN deficiency		Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0013910	hypogonadotropic hypogonadism 8 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.
http://purl.obolibrary.org/obo/MONDO_0013911	hypogonadotropic hypogonadism 9 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene.
http://purl.obolibrary.org/obo/MONDO_0013912	hypogonadotropic hypogonadism 10 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.
http://purl.obolibrary.org/obo/MONDO_0013913	hypogonadotropic hypogonadism 11 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.
http://purl.obolibrary.org/obo/MONDO_0013914	hypogonadotropic hypogonadism 12 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.
http://purl.obolibrary.org/obo/MONDO_0013915	hypogonadotropic hypogonadism 13 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.
http://purl.obolibrary.org/obo/MONDO_0013916	nephronophthisis 14	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.
http://purl.obolibrary.org/obo/MONDO_0013917	nephronophthisis 15	http://purl.obolibrary.org/obo/MONDO_0700344	CEP164-related ciliopathy		Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.
http://purl.obolibrary.org/obo/MONDO_0013924	osteogenesis imperfecta type 13	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.
http://purl.obolibrary.org/obo/MONDO_0013926	hypogonadotropic hypogonadism 14 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.
http://purl.obolibrary.org/obo/MONDO_0013929	autosomal recessive nonsyndromic hearing loss 98	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene.
http://purl.obolibrary.org/obo/MONDO_0013940	primary ciliary dyskinesia 18	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.
http://purl.obolibrary.org/obo/MONDO_0013946	hypogonadotropic hypogonadism 15 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.
http://purl.obolibrary.org/obo/MONDO_0013959	Charcot-Marie-Tooth disease type 4F	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.
http://purl.obolibrary.org/obo/MONDO_0013961	hypogonadotropic hypogonadism 16 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.
http://purl.obolibrary.org/obo/MONDO_0013962	hereditary spastic paraplegia 53	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.
http://purl.obolibrary.org/obo/MONDO_0013963	autosomal recessive nonsyndromic hearing loss 93	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.
http://purl.obolibrary.org/obo/MONDO_0013965	lethal congenital contracture syndrome 4	http://purl.obolibrary.org/obo/MONDO_0017436	lethal congenital contracture syndrome		Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.
http://purl.obolibrary.org/obo/MONDO_0013966	catecholaminergic polymorphic ventricular tachycardia 4	http://purl.obolibrary.org/obo/MONDO_0017990	catecholaminergic polymorphic ventricular tachycardia		Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.
http://purl.obolibrary.org/obo/MONDO_0013970	branched-chain keto acid dehydrogenase kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0019242	inborn disorder of branched-chain amino acid metabolism		A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
http://purl.obolibrary.org/obo/MONDO_0013978	autosomal recessive nonsyndromic hearing loss 70	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.
http://purl.obolibrary.org/obo/MONDO_0013979	primary ciliary dyskinesia 19	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.
http://purl.obolibrary.org/obo/MONDO_0013984	autosomal recessive nonsyndromic hearing loss 84B	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.
http://purl.obolibrary.org/obo/MONDO_0013985	autosomal recessive nonsyndromic hearing loss 18B	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.
http://purl.obolibrary.org/obo/MONDO_0013990	pontocerebellar hypoplasia type 8	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0013991	obesity due to congenital leptin deficiency	http://purl.obolibrary.org/obo/MONDO_0019182	inherited obesity		Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.
http://purl.obolibrary.org/obo/MONDO_0013993	pontocerebellar hypoplasia type 7	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
http://purl.obolibrary.org/obo/MONDO_0013994	Joubert syndrome 20	http://purl.obolibrary.org/obo/MONDO_0016364	Joubert syndrome with ocular defect		Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.
http://purl.obolibrary.org/obo/MONDO_0014001	Usher syndrome type 1K	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.
http://purl.obolibrary.org/obo/MONDO_0014002	autosomal dominant nocturnal frontal lobe epilepsy 5	http://purl.obolibrary.org/obo/MONDO_0000030	familial sleep-related hypermotor epilepsy		Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014009	autosomal recessive congenital ichthyosis 7	http://purl.obolibrary.org/obo/MONDO_0019306	congenital non-bullous ichthyosiform erythroderma		An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.
http://purl.obolibrary.org/obo/MONDO_0014010	autosomal recessive congenital ichthyosis 9	http://purl.obolibrary.org/obo/MONDO_0019306	congenital non-bullous ichthyosiform erythroderma		Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.
http://purl.obolibrary.org/obo/MONDO_0014011	autosomal recessive congenital ichthyosis 10	http://purl.obolibrary.org/obo/MONDO_0019306	congenital non-bullous ichthyosiform erythroderma		Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.
http://purl.obolibrary.org/obo/MONDO_0014012	Charcot-Marie-Tooth disease axonal type 2Q	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.
http://purl.obolibrary.org/obo/MONDO_0014015	hereditary spastic paraplegia 56	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.
http://purl.obolibrary.org/obo/MONDO_0014016	hereditary spastic paraplegia 49	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.
http://purl.obolibrary.org/obo/MONDO_0014018	hereditary spastic paraplegia 54	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
http://purl.obolibrary.org/obo/MONDO_0014019	dystonia 24	http://purl.obolibrary.org/obo/MONDO_0015990	focal, segmental or multifocal dystonia		Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.
http://purl.obolibrary.org/obo/MONDO_0014024	hereditary spastic paraplegia 43	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.
http://purl.obolibrary.org/obo/MONDO_0014026	congenital stationary night blindness 1F	http://purl.obolibrary.org/obo/MONDO_1040035	LRIT3-related retinopathy		Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.
http://purl.obolibrary.org/obo/MONDO_0014027	hypotrichosis 11	http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex		Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene.
http://purl.obolibrary.org/obo/MONDO_0014028	distal arthrogryposis type 5D	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
http://purl.obolibrary.org/obo/MONDO_0014029	osteogenesis imperfecta type 14	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.
http://purl.obolibrary.org/obo/MONDO_0014030	primary ciliary dyskinesia 20	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.
http://purl.obolibrary.org/obo/MONDO_0014032	brachydactyly type A1C	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.
http://purl.obolibrary.org/obo/MONDO_0014033	dystonia 25	http://purl.obolibrary.org/obo/MONDO_0000478	multifocal dystonia		Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.
http://purl.obolibrary.org/obo/MONDO_0014035	severe intellectual disability-progressive spastic diplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0014036	Alzheimer disease 17	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.
http://purl.obolibrary.org/obo/MONDO_0014039	mitochondrial DNA depletion syndrome 11	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.
http://purl.obolibrary.org/obo/MONDO_0014040	autosomal recessive osteopetrosis 8	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.
http://purl.obolibrary.org/obo/MONDO_0014050	isolated microphthalmia 8	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.
http://purl.obolibrary.org/obo/MONDO_0014052	congenital myasthenic syndrome 8	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.
http://purl.obolibrary.org/obo/MONDO_0014054	lymphoproliferative syndrome 2	http://purl.obolibrary.org/obo/MONDO_0016537	lymphoproliferative syndrome		Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.
http://purl.obolibrary.org/obo/MONDO_0014063	mitochondrial complex III deficiency nuclear type 2	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.
http://purl.obolibrary.org/obo/MONDO_0014064	mitochondrial complex III deficiency nuclear type 3	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.
http://purl.obolibrary.org/obo/MONDO_0014065	mitochondrial complex III deficiency nuclear type 4	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.
http://purl.obolibrary.org/obo/MONDO_0014066	mitochondrial complex III deficiency nuclear type 5	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.
http://purl.obolibrary.org/obo/MONDO_0014068	cone-rod dystrophy 17	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.
http://purl.obolibrary.org/obo/MONDO_0014073	dilated cardiomyopathy 1II	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.
http://purl.obolibrary.org/obo/MONDO_0014074	Charcot-Marie-Tooth disease dominant intermediate F	http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease		Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.
http://purl.obolibrary.org/obo/MONDO_0014075	cataract 39 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene.
http://purl.obolibrary.org/obo/MONDO_0014078	platelet-type bleeding disorder 15	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.
http://purl.obolibrary.org/obo/MONDO_0014086	osteogenesis imperfecta type 15	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014088	advanced sleep phase syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015609	advanced sleep phase syndrome		Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.
http://purl.obolibrary.org/obo/MONDO_0014091	mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.
http://purl.obolibrary.org/obo/MONDO_0014093	retinitis pigmentosa 66	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.
http://purl.obolibrary.org/obo/MONDO_0014095	dilated cardiomyopathy 1JJ	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.
http://purl.obolibrary.org/obo/MONDO_0014096	microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).
http://purl.obolibrary.org/obo/MONDO_0014102	hypogonadotropic hypogonadism 17 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.
http://purl.obolibrary.org/obo/MONDO_0014103	hypogonadotropic hypogonadism 18 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.
http://purl.obolibrary.org/obo/MONDO_0014105	hypogonadotropic hypogonadism 19 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.
http://purl.obolibrary.org/obo/MONDO_0014106	hypogonadotropic hypogonadism 20 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.
http://purl.obolibrary.org/obo/MONDO_0014107	hypogonadotropic hypogonadism 21 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.
http://purl.obolibrary.org/obo/MONDO_0014108	Fanconi anemia complementation group Q	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.
http://purl.obolibrary.org/obo/MONDO_0014110	cataract 15 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.
http://purl.obolibrary.org/obo/MONDO_0014111	cataract 19 multiple types	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.
http://purl.obolibrary.org/obo/MONDO_0014116	complex cortical dysplasia with other brain malformations 2	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.
http://purl.obolibrary.org/obo/MONDO_0014117	Charcot-Marie-Tooth disease type 4B3	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4		Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).
http://purl.obolibrary.org/obo/MONDO_0014123	primary ciliary dyskinesia 21	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.
http://purl.obolibrary.org/obo/MONDO_0014132	multiple mitochondrial dysfunctions syndrome 3	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.
http://purl.obolibrary.org/obo/MONDO_0014138	nemaline myopathy 8	http://purl.obolibrary.org/obo/MONDO_0015735	severe congenital nemaline myopathy		An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.
http://purl.obolibrary.org/obo/MONDO_0014142	autosomal recessive limb-girdle muscular dystrophy type 2T	http://purl.obolibrary.org/obo/MONDO_0700084	myopathy caused by variation in GMPPB		Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
http://purl.obolibrary.org/obo/MONDO_0014143	Noonan syndrome 8	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014144	autosomal recessive limb-girdle muscular dystrophy type R18	http://purl.obolibrary.org/obo/MONDO_0018243	intellectual disability-hyperkinetic movement-truncal ataxia syndrome		A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
http://purl.obolibrary.org/obo/MONDO_0014145	Leber congenital amaurosis 17	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis		Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.
http://purl.obolibrary.org/obo/MONDO_0014146	autosomal dominant hypocalcemia 2	http://purl.obolibrary.org/obo/MONDO_0018543	autosomal dominant hypocalcemia		An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/MONDO_0014147	neuronal ceroid lipofuscinosis 13	http://purl.obolibrary.org/obo/MONDO_0019260	adult neuronal ceroid lipofuscinosis		Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.
http://purl.obolibrary.org/obo/MONDO_0014150	developmental and epileptic encephalopathy 94	http://purl.obolibrary.org/obo/MONDO_0016532	Lennox-Gastaut syndrome		An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0014153	cone-rod dystrophy 18	http://purl.obolibrary.org/obo/MONDO_0100448	RAB28-related retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.
http://purl.obolibrary.org/obo/MONDO_0014154	Charcot-Marie-Tooth disease recessive intermediate C	http://purl.obolibrary.org/obo/MONDO_0017058	autosomal recessive intermediate Charcot-Marie-Tooth disease		Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.
http://purl.obolibrary.org/obo/MONDO_0014158	nephronophthisis 16	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.
http://purl.obolibrary.org/obo/MONDO_0014159	autosomal recessive spinocerebellar ataxia 14	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
http://purl.obolibrary.org/obo/MONDO_0014165	multiple congenital anomalies-hypotonia-seizures syndrome 3	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
http://purl.obolibrary.org/obo/MONDO_0014170	complex cortical dysplasia with other brain malformations 3	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.
http://purl.obolibrary.org/obo/MONDO_0014171	complex cortical dysplasia with other brain malformations 4	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.
http://purl.obolibrary.org/obo/MONDO_0014175	mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0014176	hypotonia, infantile, with psychomotor retardation and characteristic facies	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).
http://purl.obolibrary.org/obo/MONDO_0014181	amyotrophic lateral sclerosis type 20	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.
http://purl.obolibrary.org/obo/MONDO_0014182	autosomal recessive nonsyndromic hearing loss 88	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.
http://purl.obolibrary.org/obo/MONDO_0014184	specific language impairment 5	http://purl.obolibrary.org/obo/MONDO_0000724	specific language impairment		A communication disorder that involves the processing of linguistic information.
http://purl.obolibrary.org/obo/MONDO_0014185	chromosome 3q13.31 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016902	partial deletion of the long arm of chromosome 3		3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.
http://purl.obolibrary.org/obo/MONDO_0014186	retinitis pigmentosa with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.
http://purl.obolibrary.org/obo/MONDO_0014189	age related macular degeneration 13	http://purl.obolibrary.org/obo/MONDO_0100174	age related macular degeneration, susceptibility to		An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.
http://purl.obolibrary.org/obo/MONDO_0014191	catecholaminergic polymorphic ventricular tachycardia 5	http://purl.obolibrary.org/obo/MONDO_0017990	catecholaminergic polymorphic ventricular tachycardia		Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.
http://purl.obolibrary.org/obo/MONDO_0014192	primary ciliary dyskinesia 22	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.
http://purl.obolibrary.org/obo/MONDO_0014193	primary ciliary dyskinesia 23	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.
http://purl.obolibrary.org/obo/MONDO_0014194	mitochondrial complex III deficiency nuclear type 6	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.
http://purl.obolibrary.org/obo/MONDO_0014198	mitochondrial DNA depletion syndrome 13	http://purl.obolibrary.org/obo/MONDO_0016796	mitochondrial DNA depletion syndrome, encephalomyopathic form		Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
http://purl.obolibrary.org/obo/MONDO_0014202	primary ciliary dyskinesia 24	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.
http://purl.obolibrary.org/obo/MONDO_0014203	primary ciliary dyskinesia 25	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.
http://purl.obolibrary.org/obo/MONDO_0014207	age related macular degeneration 14	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.
http://purl.obolibrary.org/obo/MONDO_0014208	Charcot-Marie-Tooth disease type 2R	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.
http://purl.obolibrary.org/obo/MONDO_0014211	primary ciliary dyskinesia 26	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.
http://purl.obolibrary.org/obo/MONDO_0014214	short-rib thoracic dysplasia 8 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
http://purl.obolibrary.org/obo/MONDO_0014215	primary ciliary dyskinesia 27	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.
http://purl.obolibrary.org/obo/MONDO_0014216	primary ciliary dyskinesia 28	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.
http://purl.obolibrary.org/obo/MONDO_0014221	triosephosphate isomerase deficiency	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
http://purl.obolibrary.org/obo/MONDO_0014223	amyotrophic lateral sclerosis type 19	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.
http://purl.obolibrary.org/obo/MONDO_0014225	hemochromatosis type 5	http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis		Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.
http://purl.obolibrary.org/obo/MONDO_0014229	microphthalmia, syndromic 12	http://purl.obolibrary.org/obo/MONDO_0016073	syndromic microphthalmia		Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.
http://purl.obolibrary.org/obo/MONDO_0014231	juvenile onset Parkinson disease 19A	http://purl.obolibrary.org/obo/MONDO_0018321	atypical juvenile parkinsonism		Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.
http://purl.obolibrary.org/obo/MONDO_0014233	early-onset Parkinson disease 20	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.
http://purl.obolibrary.org/obo/MONDO_0014234	reticulate acropigmentation of Kitamura	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
http://purl.obolibrary.org/obo/MONDO_0014237	autosomal recessive nonsyndromic hearing loss 76	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.
http://purl.obolibrary.org/obo/MONDO_0014244	hereditary sensory and autonomic neuropathy type 7	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'
http://purl.obolibrary.org/obo/MONDO_0014252	familial hypobetalipoproteinemia 1	http://purl.obolibrary.org/obo/MONDO_0017774	hypobetalipoproteinemia		Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.
http://purl.obolibrary.org/obo/MONDO_0014256	retinitis pigmentosa 67	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.
http://purl.obolibrary.org/obo/MONDO_0014262	Rienhoff syndrome	http://purl.obolibrary.org/obo/MONDO_0018954	Loeys-Dietz syndrome		Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.
http://purl.obolibrary.org/obo/MONDO_0014265	Alzheimer disease 18	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.
http://purl.obolibrary.org/obo/MONDO_0014266	age related macular degeneration 15	http://purl.obolibrary.org/obo/MONDO_0100174	age related macular degeneration, susceptibility to		An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the C9 gene.
http://purl.obolibrary.org/obo/MONDO_0014271	STT3B-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).
http://purl.obolibrary.org/obo/MONDO_0014282	hereditary spastic paraplegia 72	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.
http://purl.obolibrary.org/obo/MONDO_0014283	autosomal dominant nonsyndromic hearing loss 56	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene.
http://purl.obolibrary.org/obo/MONDO_0014284	short-rib thoracic dysplasia 10 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
http://purl.obolibrary.org/obo/MONDO_0014287	short-rib thoracic dysplasia 11 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/MONDO_0014288	Joubert syndrome 21	http://purl.obolibrary.org/obo/MONDO_0018342	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014290	neurodegeneration with brain iron accumulation 6	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
http://purl.obolibrary.org/obo/MONDO_0014291	autosomal dominant nonsyndromic hearing loss 54	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.
http://purl.obolibrary.org/obo/MONDO_0014293	autosomal dominant nonsyndromic hearing loss 58	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.
http://purl.obolibrary.org/obo/MONDO_0014294	chromosome 15q11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).
http://purl.obolibrary.org/obo/MONDO_0014295	hereditary spastic paraplegia 57	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
http://purl.obolibrary.org/obo/MONDO_0014296	Warburg micro syndrome 4	http://purl.obolibrary.org/obo/MONDO_0016649	Warburg micro syndrome		Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.
http://purl.obolibrary.org/obo/MONDO_0014297	Joubert syndrome 22	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.
http://purl.obolibrary.org/obo/MONDO_0014298	chromosome 5q12 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
http://purl.obolibrary.org/obo/MONDO_0014302	hereditary spastic paraplegia 62	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.
http://purl.obolibrary.org/obo/MONDO_0014303	hereditary spastic paraplegia 64	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
http://purl.obolibrary.org/obo/MONDO_0014304	hereditary spastic paraplegia 61	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.
http://purl.obolibrary.org/obo/MONDO_0014305	hereditary spastic paraplegia 63	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.
http://purl.obolibrary.org/obo/MONDO_0014308	familial temporal lobe epilepsy 6	http://purl.obolibrary.org/obo/MONDO_0800493	familial mesial temporal lobe epilepsy		A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.
http://purl.obolibrary.org/obo/MONDO_0014311	autosomal recessive spinocerebellar ataxia 15	http://purl.obolibrary.org/obo/MONDO_0018446	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome		Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.
http://purl.obolibrary.org/obo/MONDO_0014316	Alzheimer disease 19	http://purl.obolibrary.org/obo/MONDO_0004975	Alzheimer disease		Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.
http://purl.obolibrary.org/obo/MONDO_0014323	retinitis pigmentosa 68	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.
http://purl.obolibrary.org/obo/MONDO_0014326	nemaline myopathy 9	http://purl.obolibrary.org/obo/MONDO_0015738	childhood-onset nemaline myopathy		Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.
http://purl.obolibrary.org/obo/MONDO_0014337	complex cortical dysplasia with other brain malformations 5	http://purl.obolibrary.org/obo/MONDO_0100516	complex neurodevelopmental disorder with motor features		Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.
http://purl.obolibrary.org/obo/MONDO_0014339	autosomal recessive spinocerebellar ataxia 16	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.
http://purl.obolibrary.org/obo/MONDO_0014341	complex cortical dysplasia with other brain malformations 6	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.
http://purl.obolibrary.org/obo/MONDO_0014345	retinitis pigmentosa 69	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.
http://purl.obolibrary.org/obo/MONDO_0014349	pontocerebellar hypoplasia type 10	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014351	pontocerebellar hypoplasia type 9	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.
http://purl.obolibrary.org/obo/MONDO_0014352	abdominal obesity-metabolic syndrome 3	http://purl.obolibrary.org/obo/MONDO_0000816	abdominal obesity-metabolic syndrome		Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.
http://purl.obolibrary.org/obo/MONDO_0014356	mitochondrial complex III deficiency nuclear type 7	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.
http://purl.obolibrary.org/obo/MONDO_0014363	autosomal recessive nonsyndromic hearing loss 101	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.
http://purl.obolibrary.org/obo/MONDO_0014364	mitochondrial complex III deficiency nuclear type 8	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.
http://purl.obolibrary.org/obo/MONDO_0014370	pontocerebellar hypoplasia type 2E	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.
http://purl.obolibrary.org/obo/MONDO_0014372	cone-rod dystrophy 19	http://purl.obolibrary.org/obo/MONDO_1040038	TTLL5-related retinopathy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.
http://purl.obolibrary.org/obo/MONDO_0014374	nephronophthisis 18	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.
http://purl.obolibrary.org/obo/MONDO_0014375	congenital diarrhea 7 with exudative enteropathy	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
http://purl.obolibrary.org/obo/MONDO_0014378	primary ciliary dyskinesia 29	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene.
http://purl.obolibrary.org/obo/MONDO_0014384	hypotrichosis 12	http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex		Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.
http://purl.obolibrary.org/obo/MONDO_0014385	amelogenesis imperfecta hypomaturation type 2A5	http://purl.obolibrary.org/obo/MONDO_0015048	amelogenesis imperfecta type 2		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.
http://purl.obolibrary.org/obo/MONDO_0014386	platelet-type bleeding disorder 18	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
http://purl.obolibrary.org/obo/MONDO_0014390	hypotrichosis 13	http://purl.obolibrary.org/obo/MONDO_0003037	hypotrichosis		Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.
http://purl.obolibrary.org/obo/MONDO_0014392	developmental and epileptic encephalopathy, 25	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.
http://purl.obolibrary.org/obo/MONDO_0014395	frontotemporal dementia and/or amyotrophic lateral sclerosis 2	http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
http://purl.obolibrary.org/obo/MONDO_0014396	dilated cardiomyopathy 1NN	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.
http://purl.obolibrary.org/obo/MONDO_0014400	retinitis pigmentosa 70	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.
http://purl.obolibrary.org/obo/MONDO_0014405	STING-associated vasculopathy with onset in infancy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.
http://purl.obolibrary.org/obo/MONDO_0014410	spinocerebellar ataxia type 37	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.
http://purl.obolibrary.org/obo/MONDO_0014417	spinocerebellar ataxia type 38	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.
http://purl.obolibrary.org/obo/MONDO_0014427	cone-rod dystrophy 20	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.
http://purl.obolibrary.org/obo/MONDO_0014428	autosomal recessive nonsyndromic hearing loss 102	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.
http://purl.obolibrary.org/obo/MONDO_0014432	Bardet-Biedl syndrome 2	http://purl.obolibrary.org/obo/MONDO_1040048	BBS2-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.
http://purl.obolibrary.org/obo/MONDO_0014434	Bardet-Biedl syndrome 5	http://purl.obolibrary.org/obo/MONDO_1040047	BBS5-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.
http://purl.obolibrary.org/obo/MONDO_0014435	Bardet-Biedl syndrome 7	http://purl.obolibrary.org/obo/MONDO_1040042	BBS7-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.
http://purl.obolibrary.org/obo/MONDO_0014436	Bardet-Biedl syndrome 8	http://purl.obolibrary.org/obo/MONDO_1040049	TTC8-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.
http://purl.obolibrary.org/obo/MONDO_0014437	Bardet-Biedl syndrome 9	http://purl.obolibrary.org/obo/MONDO_0015229	Bardet-Biedl syndrome		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.
http://purl.obolibrary.org/obo/MONDO_0014438	Bardet-Biedl syndrome 10	http://purl.obolibrary.org/obo/MONDO_0015229	Bardet-Biedl syndrome		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.
http://purl.obolibrary.org/obo/MONDO_0014439	Bardet-Biedl syndrome 11	http://purl.obolibrary.org/obo/MONDO_0016153	neuromuscular disease caused by qualitative or quantitative defects of TRIM32		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.
http://purl.obolibrary.org/obo/MONDO_0014440	Bardet-Biedl syndrome 12	http://purl.obolibrary.org/obo/MONDO_1040045	BBS12-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.
http://purl.obolibrary.org/obo/MONDO_0014441	Bardet-Biedl syndrome 13	http://purl.obolibrary.org/obo/MONDO_1040068	MKS1-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.
http://purl.obolibrary.org/obo/MONDO_0014442	Bardet-Biedl syndrome 14	http://purl.obolibrary.org/obo/MONDO_0100451	CEP290-related ciliopathy		A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.
http://purl.obolibrary.org/obo/MONDO_0014443	Bardet-Biedl syndrome 15	http://purl.obolibrary.org/obo/MONDO_0700378	WDPCP-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.
http://purl.obolibrary.org/obo/MONDO_0014444	Bardet-Biedl syndrome 16	http://purl.obolibrary.org/obo/MONDO_0700379	SDCCAG8-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.
http://purl.obolibrary.org/obo/MONDO_0014445	Bardet-Biedl syndrome 17	http://purl.obolibrary.org/obo/MONDO_1040046	LZTFL1-related ciliopathy		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.
http://purl.obolibrary.org/obo/MONDO_0014446	Bardet-Biedl syndrome 18	http://purl.obolibrary.org/obo/MONDO_0015229	Bardet-Biedl syndrome		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014447	Bardet-Biedl syndrome 19	http://purl.obolibrary.org/obo/MONDO_0015229	Bardet-Biedl syndrome		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.
http://purl.obolibrary.org/obo/MONDO_0014448	hyperthyroxinemia, familial dysalbuminemic	http://purl.obolibrary.org/obo/MONDO_0005333	hyperthyroxinemia		An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.
http://purl.obolibrary.org/obo/MONDO_0014449	congenital analbuminemia	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
http://purl.obolibrary.org/obo/MONDO_0014451	focal segmental glomerulosclerosis 7	http://purl.obolibrary.org/obo/MONDO_0005363	inherited focal segmental glomerulosclerosis		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.
http://purl.obolibrary.org/obo/MONDO_0014461	hypogonadotropic hypogonadism 22 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome		Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.
http://purl.obolibrary.org/obo/MONDO_0014462	focal segmental glomerulosclerosis 8	http://purl.obolibrary.org/obo/MONDO_0005363	inherited focal segmental glomerulosclerosis		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.
http://purl.obolibrary.org/obo/MONDO_0014464	progressive encephalopathy with leukodystrophy due to DECR deficiency	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.
http://purl.obolibrary.org/obo/MONDO_0014465	primary ciliary dyskinesia 30	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.
http://purl.obolibrary.org/obo/MONDO_0014466	Neu-Laxova syndrome 2	http://purl.obolibrary.org/obo/MONDO_0000179	Neu-Laxova syndrome		Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014467	Charcot-Marie-Tooth disease recessive intermediate D	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.
http://purl.obolibrary.org/obo/MONDO_0014468	congenital myasthenic syndrome 7	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.
http://purl.obolibrary.org/obo/MONDO_0014469	autosomal recessive nonsyndromic hearing loss 103	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.
http://purl.obolibrary.org/obo/MONDO_0014470	autosomal dominant nonsyndromic hearing loss 65	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.
http://purl.obolibrary.org/obo/MONDO_0014474	autosomal recessive limb-girdle muscular dystrophy type 2U	http://purl.obolibrary.org/obo/MONDO_0100530	myopathy caused by variation in CRPPA		Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.
http://purl.obolibrary.org/obo/MONDO_0014475	spinocerebellar ataxia type 40	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
http://purl.obolibrary.org/obo/MONDO_0014477	developmental and epileptic encephalopathy, 26	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.
http://purl.obolibrary.org/obo/MONDO_0014493	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome		A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.
http://purl.obolibrary.org/obo/MONDO_0014496	mitochondrial complex III deficiency nuclear type 9	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.
http://purl.obolibrary.org/obo/MONDO_0014498	familial cold autoinflammatory syndrome 4	http://purl.obolibrary.org/obo/MONDO_0018768	familial cold autoinflammatory syndrome		Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.
http://purl.obolibrary.org/obo/MONDO_0014500	atrial conduction disease	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.
http://purl.obolibrary.org/obo/MONDO_0014503	autosomal recessive spinocerebellar ataxia 17	http://purl.obolibrary.org/obo/MONDO_0020043	autosomal recessive congenital cerebellar ataxia		Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.
http://purl.obolibrary.org/obo/MONDO_0014506	hypomyelinating leukodystrophy 9	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.
http://purl.obolibrary.org/obo/MONDO_0014507	Catel-Manzke syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.
http://purl.obolibrary.org/obo/MONDO_0014511	Charcot-Marie-Tooth disease axonal type 2S	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.
http://purl.obolibrary.org/obo/MONDO_0014513	nemaline myopathy 10	http://purl.obolibrary.org/obo/MONDO_0015735	severe congenital nemaline myopathy		Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.
http://purl.obolibrary.org/obo/MONDO_0014516	microcephaly and chorioretinopathy 2	http://purl.obolibrary.org/obo/MONDO_0000181	microcephaly and chorioretinopathy		Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.
http://purl.obolibrary.org/obo/MONDO_0014518	platelet-type bleeding disorder 19	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.
http://purl.obolibrary.org/obo/MONDO_0014528	chronic atrial and intestinal dysrhythmia	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).
http://purl.obolibrary.org/obo/MONDO_0014530	autosomal recessive spinocerebellar ataxia 18	http://purl.obolibrary.org/obo/MONDO_0018189	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome		Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.
http://purl.obolibrary.org/obo/MONDO_0014531	amyotrophic lateral sclerosis type 22	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.
http://purl.obolibrary.org/obo/MONDO_0014537	nephronophthisis 19	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.
http://purl.obolibrary.org/obo/MONDO_0014539	focal segmental glomerulosclerosis 9	http://purl.obolibrary.org/obo/MONDO_0005363	inherited focal segmental glomerulosclerosis		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.
http://purl.obolibrary.org/obo/MONDO_0014540	amelogenesis imperfecta type 1H	http://purl.obolibrary.org/obo/MONDO_0015047	amelogenesis imperfecta type 1		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.
http://purl.obolibrary.org/obo/MONDO_0014542	congenital myasthenic syndrome 15	http://purl.obolibrary.org/obo/MONDO_0100559	ALG14-congenital disorder of glycosylation		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.
http://purl.obolibrary.org/obo/MONDO_0014543	congenital myasthenic syndrome 14	http://purl.obolibrary.org/obo/MONDO_0000182	congenital myasthenic syndrome with tubular aggregates		Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.
http://purl.obolibrary.org/obo/MONDO_0014544	osteogenesis imperfecta type 16	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.
http://purl.obolibrary.org/obo/MONDO_0014548	long QT syndrome 14	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.
http://purl.obolibrary.org/obo/MONDO_0014550	long QT syndrome 15	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.
http://purl.obolibrary.org/obo/MONDO_0014557	ataxia - oculomotor apraxia type 4	http://purl.obolibrary.org/obo/MONDO_0020047	autosomal recessive syndromic cerebellar ataxia		Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.
http://purl.obolibrary.org/obo/MONDO_0014560	amelogenesis imperfecta type 1F	http://purl.obolibrary.org/obo/MONDO_0015047	amelogenesis imperfecta type 1		Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.
http://purl.obolibrary.org/obo/MONDO_0014564	congenital bile acid synthesis defect 5	http://purl.obolibrary.org/obo/MONDO_0100372	disorder of peroxisomal transporter		Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.
http://purl.obolibrary.org/obo/MONDO_0014565	cataract 43	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.
http://purl.obolibrary.org/obo/MONDO_0014566	Charcot-Marie-Tooth disease axonal type 2U	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
http://purl.obolibrary.org/obo/MONDO_0014568	hereditary spastic paraplegia 73	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
http://purl.obolibrary.org/obo/MONDO_0014572	Lichtenstein-Knorr syndrome	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		An autosomal recessive spinocerebellar ataxia caused by disease-causing variants in the SLC9A1 gene, characterized by early-onset cerebellar ataxia, cognitive or developmental delay, seizure, and cerebellar atrophy. Patients may also present with varying degrees of nystagmus, oculomotor apraxia, amelogenesis imperfecta and sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0014577	short-rib thoracic dysplasia 13 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.
http://purl.obolibrary.org/obo/MONDO_0014578	congenital myasthenic syndrome 17	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.
http://purl.obolibrary.org/obo/MONDO_0014581	congenital myasthenic syndrome 2A	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/MONDO_0014582	congenital myasthenic syndrome 2C	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
http://purl.obolibrary.org/obo/MONDO_0014583	congenital myasthenic syndrome 3A	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.
http://purl.obolibrary.org/obo/MONDO_0014584	congenital myasthenic syndrome 3B	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
http://purl.obolibrary.org/obo/MONDO_0014585	congenital myasthenic syndrome 3C	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
http://purl.obolibrary.org/obo/MONDO_0014586	congenital myasthenic syndrome 4B	http://purl.obolibrary.org/obo/MONDO_1040021	congenital myasthenic syndrome 4		A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
http://purl.obolibrary.org/obo/MONDO_0014587	congenital myasthenic syndrome 9	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.
http://purl.obolibrary.org/obo/MONDO_0014588	congenital myasthenic syndrome 11	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.
http://purl.obolibrary.org/obo/MONDO_0014589	maturity-onset diabetes of the young type 13	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.
http://purl.obolibrary.org/obo/MONDO_0014590	congenital myasthenic syndrome 18	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.
http://purl.obolibrary.org/obo/MONDO_0014591	autosomal dominant Robinow syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008389	autosomal dominant Robinow syndrome		Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.
http://purl.obolibrary.org/obo/MONDO_0014592	microcephaly and chorioretinopathy 3	http://purl.obolibrary.org/obo/MONDO_0000181	microcephaly and chorioretinopathy		Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.
http://purl.obolibrary.org/obo/MONDO_0014594	autosomal dominant nonsyndromic hearing loss 67	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.
http://purl.obolibrary.org/obo/MONDO_0014601	autosomal recessive spinocerebellar ataxia 20	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.
http://purl.obolibrary.org/obo/MONDO_0014603	autosomal dominant nonsyndromic hearing loss 40	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.
http://purl.obolibrary.org/obo/MONDO_0014608	mandibulofacial dysostosis with alopecia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
http://purl.obolibrary.org/obo/MONDO_0014611	multiple mitochondrial dysfunctions syndrome 4	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.
http://purl.obolibrary.org/obo/MONDO_0014614	congenital stationary night blindness 1G	http://purl.obolibrary.org/obo/MONDO_0016293	congenital stationary night blindness		A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.
http://purl.obolibrary.org/obo/MONDO_0014618	retinitis pigmentosa 71	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.
http://purl.obolibrary.org/obo/MONDO_0014620	myoclonic dystonia 26	http://purl.obolibrary.org/obo/MONDO_0000903	myoclonus-dystonia syndrome		Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.
http://purl.obolibrary.org/obo/MONDO_0014621	Brugada syndrome 9	http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome		Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.
http://purl.obolibrary.org/obo/MONDO_0014627	dystonia 27	http://purl.obolibrary.org/obo/MONDO_0000479	segmental dystonia		Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.
http://purl.obolibrary.org/obo/MONDO_0014632	hypomyelinating leukodystrophy 10	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.
http://purl.obolibrary.org/obo/MONDO_0014638	Fanconi anemia complementation group T	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.
http://purl.obolibrary.org/obo/MONDO_0014639	familial temporal lobe epilepsy 7	http://purl.obolibrary.org/obo/MONDO_0005115	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.
http://purl.obolibrary.org/obo/MONDO_0014640	frontotemporal dementia and/or amyotrophic lateral sclerosis 3	http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.
http://purl.obolibrary.org/obo/MONDO_0014641	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis		An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.
http://purl.obolibrary.org/obo/MONDO_0014644	hereditary spastic paraplegia 74	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.
http://purl.obolibrary.org/obo/MONDO_0014650	familial temporal lobe epilepsy 8	http://purl.obolibrary.org/obo/MONDO_0005115	temporal lobe epilepsy		A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.
http://purl.obolibrary.org/obo/MONDO_0014651	acrofacial dysostosis Cincinnati type	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.
http://purl.obolibrary.org/obo/MONDO_0014653	retinitis pigmentosa 72	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.
http://purl.obolibrary.org/obo/MONDO_0014657	primary ciliary dyskinesia 32	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.
http://purl.obolibrary.org/obo/MONDO_0014664	Joubert syndrome 23	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.
http://purl.obolibrary.org/obo/MONDO_0014665	Charcot-Marie-Tooth disease axonal type 2V	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.
http://purl.obolibrary.org/obo/MONDO_0014666	hypomyelinating leukodystrophy 11	http://purl.obolibrary.org/obo/MONDO_0700282	POLR3-related leukodystrophy		Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.
http://purl.obolibrary.org/obo/MONDO_0014672	osteogenesis imperfecta type 17	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.
http://purl.obolibrary.org/obo/MONDO_0014673	cataract 44	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.
http://purl.obolibrary.org/obo/MONDO_0014674	maturity-onset diabetes of the young type 14	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.
http://purl.obolibrary.org/obo/MONDO_0014675	autosomal recessive nonsyndromic hearing loss 104	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.
http://purl.obolibrary.org/obo/MONDO_0014676	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.
http://purl.obolibrary.org/obo/MONDO_0014677	achromatopsia 7	http://purl.obolibrary.org/obo/MONDO_0100447	ATF6-related retinopathy		Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.
http://purl.obolibrary.org/obo/MONDO_0014687	retinitis pigmentosa 73	http://purl.obolibrary.org/obo/MONDO_1040040	HGSNAT-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.
http://purl.obolibrary.org/obo/MONDO_0014688	short-rib thoracic dysplasia 14 with polydactyly	http://purl.obolibrary.org/obo/MONDO_0018342	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
http://purl.obolibrary.org/obo/MONDO_0014691	Noonan syndrome 9	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.
http://purl.obolibrary.org/obo/MONDO_0014692	retinitis pigmentosa 74	http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.
http://purl.obolibrary.org/obo/MONDO_0014693	Noonan syndrome 10	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.
http://purl.obolibrary.org/obo/MONDO_0014702	autosomal recessive complex spastic paraplegia type 9B	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.
http://purl.obolibrary.org/obo/MONDO_0014708	ring chromosome 14	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
http://purl.obolibrary.org/obo/MONDO_0014711	autosomal dominant Charcot-Marie-Tooth disease type 2W	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.
http://purl.obolibrary.org/obo/MONDO_0014724	Joubert syndrome 24	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.
http://purl.obolibrary.org/obo/MONDO_0014726	Charcot-Marie-Tooth disease axonal type 2X	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.
http://purl.obolibrary.org/obo/MONDO_0014729	hereditary spastic paraplegia 75	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.
http://purl.obolibrary.org/obo/MONDO_0014732	hypomyelinating leukodystrophy 12	http://purl.obolibrary.org/obo/MONDO_0100617	VPS11-related neurological disorder		Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.
http://purl.obolibrary.org/obo/MONDO_0014733	Charcot-Marie-Tooth disease type 4K	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
http://purl.obolibrary.org/obo/MONDO_0014735	Charcot-Marie-Tooth disease type 2Y	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.
http://purl.obolibrary.org/obo/MONDO_0014736	Charcot-Marie-Tooth disease axonal type 2Z	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.
http://purl.obolibrary.org/obo/MONDO_0014738	autosomal dominant nonsyndromic hearing loss 69	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.
http://purl.obolibrary.org/obo/MONDO_0014739	autosomal recessive nonsyndromic hearing loss 97	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.
http://purl.obolibrary.org/obo/MONDO_0014740	autosomal dominant nonsyndromic hearing loss 68	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.
http://purl.obolibrary.org/obo/MONDO_0014743	rhizomelic chondrodysplasia punctata type 5	http://purl.obolibrary.org/obo/MONDO_0100265	peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain		Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
http://purl.obolibrary.org/obo/MONDO_0014745	congenital myasthenic syndrome 19	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.
http://purl.obolibrary.org/obo/MONDO_0014750	primary ciliary dyskinesia 33	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.
http://purl.obolibrary.org/obo/MONDO_0014768	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	http://purl.obolibrary.org/obo/MONDO_0007432	cerebral arteriopathy with subcortical infarcts and leukoencephalopathy		Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.
http://purl.obolibrary.org/obo/MONDO_0014770	Joubert syndrome 25	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.
http://purl.obolibrary.org/obo/MONDO_0014771	Joubert syndrome 26	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.
http://purl.obolibrary.org/obo/MONDO_0014782	autosomal recessive limb-girdle muscular dystrophy type 2X	http://purl.obolibrary.org/obo/MONDO_0015152	autosomal recessive limb-girdle muscular dystrophy		Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.
http://purl.obolibrary.org/obo/MONDO_0014788	autosomal recessive limb-girdle muscular dystrophy type 2W	http://purl.obolibrary.org/obo/MONDO_0015152	autosomal recessive limb-girdle muscular dystrophy		Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.
http://purl.obolibrary.org/obo/MONDO_0014796	autosomal recessive early-onset Parkinson disease 23	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.
http://purl.obolibrary.org/obo/MONDO_0014798	brachydactyly type A1D	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.
http://purl.obolibrary.org/obo/MONDO_0014799	cataract 45	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.
http://purl.obolibrary.org/obo/MONDO_0014808	congenital secretory sodium diarrhea 8	http://purl.obolibrary.org/obo/MONDO_0045032	congenital secretory diarrhea		Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.
http://purl.obolibrary.org/obo/MONDO_0014813	hypomyelinating leukodystrophy 13	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.
http://purl.obolibrary.org/obo/MONDO_0014814	advanced sleep phase syndrome 3	http://purl.obolibrary.org/obo/MONDO_0015609	advanced sleep phase syndrome		Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.
http://purl.obolibrary.org/obo/MONDO_0014819	autosomal dominant Robinow syndrome 3	http://purl.obolibrary.org/obo/MONDO_0008389	autosomal dominant Robinow syndrome		Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.
http://purl.obolibrary.org/obo/MONDO_0014827	autosomal recessive spastic paraplegia type 76	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.
http://purl.obolibrary.org/obo/MONDO_0014828	immunodeficiency-centromeric instability-facial anomalies syndrome 3	http://purl.obolibrary.org/obo/MONDO_0000133	immunodeficiency-centromeric instability-facial anomalies syndrome		Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.
http://purl.obolibrary.org/obo/MONDO_0014829	immunodeficiency-centromeric instability-facial anomalies syndrome 4	http://purl.obolibrary.org/obo/MONDO_0000133	immunodeficiency-centromeric instability-facial anomalies syndrome		Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.
http://purl.obolibrary.org/obo/MONDO_0014830	platelet-type bleeding disorder 20	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.
http://purl.obolibrary.org/obo/MONDO_0014836	Charcot-Marie-Tooth disease axonal type 2CC	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.
http://purl.obolibrary.org/obo/MONDO_0014853	autosomal dominant nonsyndromic hearing loss 70	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.
http://purl.obolibrary.org/obo/MONDO_0014854	autosomal dominant nonsyndromic hearing loss 66	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.
http://purl.obolibrary.org/obo/MONDO_0014866	Charcot-Marie-Tooth disease axonal type 2T	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
http://purl.obolibrary.org/obo/MONDO_0014871	retinitis pigmentosa 75	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.
http://purl.obolibrary.org/obo/MONDO_0014872	congenital stationary night blindness 1H	http://purl.obolibrary.org/obo/MONDO_0016293	congenital stationary night blindness		Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.
http://purl.obolibrary.org/obo/MONDO_0014882	hereditary spastic paraplegia 77	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
http://purl.obolibrary.org/obo/MONDO_0014883	hypertrophic cardiomyopathy 26	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.
http://purl.obolibrary.org/obo/MONDO_0014900	autosomal recessive limb-girdle muscular dystrophy type 2Y	http://purl.obolibrary.org/obo/MONDO_0100582	TOR1AIP1-related myopathy		Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0014909	primary ciliary dyskinesia 34	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.
http://purl.obolibrary.org/obo/MONDO_0014910	primary ciliary dyskinesia 35	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.
http://purl.obolibrary.org/obo/MONDO_0014920	patterned macular dystrophy 3	http://purl.obolibrary.org/obo/MONDO_0020381	patterned macular dystrophy		Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.
http://purl.obolibrary.org/obo/MONDO_0014927	Joubert syndrome 27	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.
http://purl.obolibrary.org/obo/MONDO_0014928	Joubert syndrome 28	http://purl.obolibrary.org/obo/MONDO_1040068	MKS1-related ciliopathy		Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.
http://purl.obolibrary.org/obo/MONDO_0014939	congenital myasthenic syndrome 20	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.
http://purl.obolibrary.org/obo/MONDO_0014983	congenital myasthenic syndrome 21	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.
http://purl.obolibrary.org/obo/MONDO_0014985	Fanconi anemia complementation group V	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.
http://purl.obolibrary.org/obo/MONDO_0014986	Fanconi anemia complementation group R	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.
http://purl.obolibrary.org/obo/MONDO_0014987	Fanconi anemia complementation group U	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.
http://purl.obolibrary.org/obo/MONDO_0014997	nephronophthisis 20	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.
http://purl.obolibrary.org/obo/MONDO_0015015	congenital bile acid synthesis defect 6	http://purl.obolibrary.org/obo/MONDO_0018841	congenital bile acid synthesis defect		Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.
http://purl.obolibrary.org/obo/MONDO_0015023	MYPN-related myopathy	http://purl.obolibrary.org/obo/MONDO_0018958	nemaline myopathy		Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.
http://purl.obolibrary.org/obo/MONDO_0015028	48,XXYY syndrome	http://purl.obolibrary.org/obo/MONDO_0017975	sex chromosome disorder of sex development		The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.
http://purl.obolibrary.org/obo/MONDO_0015032	intraneural perineurioma	http://purl.obolibrary.org/obo/MONDO_0019404	perineurioma		A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.
http://purl.obolibrary.org/obo/MONDO_0015059	progressive non-fluent aphasia	http://purl.obolibrary.org/obo/MONDO_0011842	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions		Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.
http://purl.obolibrary.org/obo/MONDO_0015070	laryngeal neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021071	laryngeal neoplasm		A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.
http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.
http://purl.obolibrary.org/obo/MONDO_0015096	familial hypofibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0008737	congenital afibrinogenemia		Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.
http://purl.obolibrary.org/obo/MONDO_0015104	porphyria cutanea tarda	http://purl.obolibrary.org/obo/MONDO_0002520	hepatic porphyria		The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.
http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.
http://purl.obolibrary.org/obo/MONDO_0015151	muscular dystrophy, limb-girdle, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016971	limb-girdle muscular dystrophy		Autosomal dominant form of limb-girdle muscular dystrophy.
http://purl.obolibrary.org/obo/MONDO_0015152	autosomal recessive limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0016971	limb-girdle muscular dystrophy		Autosomal recessive form of limb-girdle muscular dystrophy.
http://purl.obolibrary.org/obo/MONDO_0015167	amniotic band syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.
http://purl.obolibrary.org/obo/MONDO_0015177	metaphyseal anadysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
http://purl.obolibrary.org/obo/MONDO_0015183	short bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
http://purl.obolibrary.org/obo/MONDO_0015194	sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.
http://purl.obolibrary.org/obo/MONDO_0015196	vein of Galen aneurysm	http://purl.obolibrary.org/obo/MONDO_0004634	vein disorder		Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization.
http://purl.obolibrary.org/obo/MONDO_0015197	aneurysm of sinus of Valsalva	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.
http://purl.obolibrary.org/obo/MONDO_0015199	aniridia - intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
http://purl.obolibrary.org/obo/MONDO_0015200	anisakiasis	http://purl.obolibrary.org/obo/MONDO_0024271	intestinal helminthiasis		Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.
http://purl.obolibrary.org/obo/MONDO_0015228	pentasomy X	http://purl.obolibrary.org/obo/MONDO_0700085	pentasomy		Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
http://purl.obolibrary.org/obo/MONDO_0015229	Bardet-Biedl syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems
http://purl.obolibrary.org/obo/MONDO_0015233	caudal appendage-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.
http://purl.obolibrary.org/obo/MONDO_0015234	arachnodactyly-abnormal ossification-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0015237	arrhinia	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.
http://purl.obolibrary.org/obo/MONDO_0015243	allergic bronchopulmonary aspergillosis	http://purl.obolibrary.org/obo/MONDO_0005657	aspergillosis		Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.
http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0100310	hereditary cerebellar ataxia		Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.
http://purl.obolibrary.org/obo/MONDO_0015247	opsoclonus-myoclonus syndrome	http://purl.obolibrary.org/obo/MONDO_0018215	paraneoplastic neurologic syndrome		Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.
http://purl.obolibrary.org/obo/MONDO_0015250	spinal atrophy-ophthalmoplegia-pyramidal syndrome	http://purl.obolibrary.org/obo/MONDO_0016113	bulbospinal muscular atrophy		Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.
http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia	http://purl.obolibrary.org/obo/MONDO_0001713	inherited aplastic anemia		A congenital aregenerative and often macrocytic anemia with erythroblastopenia.
http://purl.obolibrary.org/obo/MONDO_0015254	schistosomiasis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0015259	brachydactyly-mesomelia-intellectual disability-heart defects syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).
http://purl.obolibrary.org/obo/MONDO_0015260	diphyllobothriasis	http://purl.obolibrary.org/obo/MONDO_0042488	Cestode infectious disease		Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells).
http://purl.obolibrary.org/obo/MONDO_0015261	pseudopelade of Brocq	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.
http://purl.obolibrary.org/obo/MONDO_0015262	brachyolmia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.
http://purl.obolibrary.org/obo/MONDO_0015263	Brugada syndrome	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.
http://purl.obolibrary.org/obo/MONDO_0015264	cryptogenic organizing pneumonia	http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia		Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.
http://purl.obolibrary.org/obo/MONDO_0015267	Feingold syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.
http://purl.obolibrary.org/obo/MONDO_0015268	medullary sponge kidney	http://purl.obolibrary.org/obo/MONDO_0002473	cystic kidney disease		Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.
http://purl.obolibrary.org/obo/MONDO_0015269	symmetrical thalamic calcifications	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.
http://purl.obolibrary.org/obo/MONDO_0015270	butyrylcholinesterase deficiency	http://purl.obolibrary.org/obo/MONDO_0019253	metabolic disease involving other neurotransmitter deficiency		Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
http://purl.obolibrary.org/obo/MONDO_0015273	complete atrioventricular canal	http://purl.obolibrary.org/obo/MONDO_0020290	familial atrioventricular septal defect		Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.
http://purl.obolibrary.org/obo/MONDO_0015275	partial atrioventricular canal	http://purl.obolibrary.org/obo/MONDO_0020290	familial atrioventricular septal defect		Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.
http://purl.obolibrary.org/obo/MONDO_0015280	cardiofaciocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0015281	atrial standstill	http://purl.obolibrary.org/obo/MONDO_0016340	familial restrictive cardiomyopathy		Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.
http://purl.obolibrary.org/obo/MONDO_0015282	cardiomyopathy-cataract-hip spine disease syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
http://purl.obolibrary.org/obo/MONDO_0015284	heart-hand syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0016432	heart-hand syndrome		Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).
http://purl.obolibrary.org/obo/MONDO_0015285	Carney complex	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.
http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.
http://purl.obolibrary.org/obo/MONDO_0015288	herpes simplex virus keratitis	http://purl.obolibrary.org/obo/MONDO_0023865	corneal infection		A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)
http://purl.obolibrary.org/obo/MONDO_0015294	nephrogenic systemic fibrosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.
http://purl.obolibrary.org/obo/MONDO_0015300	cataract - microcornea syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0015301	primary cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.
http://purl.obolibrary.org/obo/MONDO_0015304	arachnoiditis	http://purl.obolibrary.org/obo/MONDO_0004796	infectious meningitis		Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.
http://purl.obolibrary.org/obo/MONDO_0015306	Lemierre syndrome	http://purl.obolibrary.org/obo/MONDO_0005229	bacterial infectious disease with sepsis		Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.
http://purl.obolibrary.org/obo/MONDO_0015307	Madras motor neuron disease	http://purl.obolibrary.org/obo/MONDO_0020128	motor neuron disorder		Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0015316	congenital laryngeal palsy	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.
http://purl.obolibrary.org/obo/MONDO_0015324	cataract-intellectual disability-anal atresia-urinary defects syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.
http://purl.obolibrary.org/obo/MONDO_0015325	cataract-deafness-hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.
http://purl.obolibrary.org/obo/MONDO_0015326	night blindness-skeletal anomalies-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).
http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.
http://purl.obolibrary.org/obo/MONDO_0015340	drug rash with eosinophilia and systemic symptoms	http://purl.obolibrary.org/obo/MONDO_0017396	toxic dermatosis		DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.
http://purl.obolibrary.org/obo/MONDO_0015342	acute transverse myelitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).
http://purl.obolibrary.org/obo/MONDO_0015347	multicentric reticulohistiocytosis	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.
http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0015367	Charlie M syndrome	http://purl.obolibrary.org/obo/MONDO_0017139	oromandibular-limb hypogenesis syndrome		Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.
http://purl.obolibrary.org/obo/MONDO_0015403	non-involuting congenital hemangioma	http://purl.obolibrary.org/obo/MONDO_0018715	congenital hemangioma		Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).
http://purl.obolibrary.org/obo/MONDO_0015426	Desbuquois dysplasia	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.
http://purl.obolibrary.org/obo/MONDO_0015428	choroidal atrophy-alopecia syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
http://purl.obolibrary.org/obo/MONDO_0015430	ring chromosome 1	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.
http://purl.obolibrary.org/obo/MONDO_0015431	ring chromosome 10	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.
http://purl.obolibrary.org/obo/MONDO_0015432	ring chromosome 12	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015433	ring chromosome 17	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.
http://purl.obolibrary.org/obo/MONDO_0015434	ring chromosome 18	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.
http://purl.obolibrary.org/obo/MONDO_0015435	ring chromosome 19	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015436	ring chromosome 20	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.
http://purl.obolibrary.org/obo/MONDO_0015437	ring chromosome 21	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.
http://purl.obolibrary.org/obo/MONDO_0015438	ring chromosome 22	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.
http://purl.obolibrary.org/obo/MONDO_0015439	ring chromosome 4	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.
http://purl.obolibrary.org/obo/MONDO_0015440	ring chromosome 6	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015441	ring chromosome 7	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
http://purl.obolibrary.org/obo/MONDO_0015443	chromosome 8-derived supernumerary ring/marker	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.
http://purl.obolibrary.org/obo/MONDO_0015449	criss-cross heart	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.
http://purl.obolibrary.org/obo/MONDO_0015452	Coffin-Siris syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
http://purl.obolibrary.org/obo/MONDO_0015453	Cogan syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.
http://purl.obolibrary.org/obo/MONDO_0015454	multiple carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0020698	inborn error of biotin metabolism		Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0015455	gonococcal conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0006668	bacterial conjunctivitis		Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.
http://purl.obolibrary.org/obo/MONDO_0015459	nasopharyngeal carcinoma	http://purl.obolibrary.org/obo/MONDO_0017344	Epstein-Barr virus-associated carcinoma		A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0015465	craniometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0042973	familial osteosclerosis		Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
http://purl.obolibrary.org/obo/MONDO_0015466	cranio-osteoarthropathy	http://purl.obolibrary.org/obo/MONDO_0016620	primary hypertrophic osteoarthropathy		Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
http://purl.obolibrary.org/obo/MONDO_0015474	cryptosporidiosis	http://purl.obolibrary.org/obo/MONDO_0024270	parasitic intestinal disorder		Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea.
http://purl.obolibrary.org/obo/MONDO_0015484	cysticercosis	http://purl.obolibrary.org/obo/MONDO_0000367	taeniasis		Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.
http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus	http://purl.obolibrary.org/obo/MONDO_0100581	ocular growth disorder		A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.
http://purl.obolibrary.org/obo/MONDO_0015487	fatal infantile encephalocardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
http://purl.obolibrary.org/obo/MONDO_0015492	anti-neutrophil cytoplasmic antibody-associated vasculitis	http://purl.obolibrary.org/obo/MONDO_0800113	necrotizing vasculitis		Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.
http://purl.obolibrary.org/obo/MONDO_0015500	facial arteriovenous malformation	http://purl.obolibrary.org/obo/MONDO_0001256	arteriovenous hemangioma/malformation		Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.
http://purl.obolibrary.org/obo/MONDO_0015515	carnitine palmitoyltransferase II deficiency	http://purl.obolibrary.org/obo/MONDO_0700284	carnitine palmitoyl transferase deficiency		Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.
http://purl.obolibrary.org/obo/MONDO_0015523	epithelioid hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0002095	vascular cancer		A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
http://purl.obolibrary.org/obo/MONDO_0015526	cold-induced sweating syndrome	http://purl.obolibrary.org/obo/MONDO_0018431	cold-induced sweating syndrome - hyperthermia spectrum		Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.
http://purl.obolibrary.org/obo/MONDO_0015528	congenital epulis	http://purl.obolibrary.org/obo/MONDO_0021086	gingival neoplasm		A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.
http://purl.obolibrary.org/obo/MONDO_0015529	paroxysmal Hemicrania	http://purl.obolibrary.org/obo/MONDO_0015530	trigeminal autonomic cephalalgia		Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.
http://purl.obolibrary.org/obo/MONDO_0015530	trigeminal autonomic cephalalgia	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.
http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0002637	histiocytosis		Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).
http://purl.obolibrary.org/obo/MONDO_0015534	juvenile xanthogranuloma	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.
http://purl.obolibrary.org/obo/MONDO_0015537	necrobiotic xanthogranuloma	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.
http://purl.obolibrary.org/obo/MONDO_0015545	macrophage activation syndrome	http://purl.obolibrary.org/obo/MONDO_0015542	secondary hemophagocytic lymphohistiocytosis		A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.
http://purl.obolibrary.org/obo/MONDO_0015566	2q24 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2		2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.
http://purl.obolibrary.org/obo/MONDO_0015571	deletion 5q35	http://purl.obolibrary.org/obo/MONDO_0016904	partial deletion of the long arm of chromosome 5		Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.
http://purl.obolibrary.org/obo/MONDO_0015584	febrile infection-related epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0800500	childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy		A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.
http://purl.obolibrary.org/obo/MONDO_0015588	limbic encephalitis	http://purl.obolibrary.org/obo/MONDO_0019956	encephalitis		A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.
http://purl.obolibrary.org/obo/MONDO_0015606	Xp22.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0017004	partial monosomy of the short arm of chromosome X		Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.
http://purl.obolibrary.org/obo/MONDO_0015607	partial chromosome Y deletion	http://purl.obolibrary.org/obo/MONDO_0700028	chromosome Y disorder		A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.
http://purl.obolibrary.org/obo/MONDO_0015609	advanced sleep phase syndrome	http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder		A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.
http://purl.obolibrary.org/obo/MONDO_0015611	neutral lipid storage disease	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.
http://purl.obolibrary.org/obo/MONDO_0015612	Dent disease	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
http://purl.obolibrary.org/obo/MONDO_0015613	dentin dysplasia	http://purl.obolibrary.org/obo/MONDO_0002220	tooth hard tissue disease		Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.
http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.
http://purl.obolibrary.org/obo/MONDO_0015636	dirofilariasis	http://purl.obolibrary.org/obo/MONDO_0016075	filariasis		Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.
http://purl.obolibrary.org/obo/MONDO_0015643	photosensitive epilepsy	http://purl.obolibrary.org/obo/MONDO_0043459	radiation-induced disorder		An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
http://purl.obolibrary.org/obo/MONDO_0015663	diencephalic syndrome	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.
http://purl.obolibrary.org/obo/MONDO_0015664	idiopathic pulmonary artery dilatation	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0015665	scleromyxedema	http://purl.obolibrary.org/obo/MONDO_0018432	lichen myxedematosus		Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.
http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.
http://purl.obolibrary.org/obo/MONDO_0015675	distomatosis	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.
http://purl.obolibrary.org/obo/MONDO_0015681	childhood disintegrative disorder	http://purl.obolibrary.org/obo/MONDO_0000594	pervasive developmental disorder		A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.
http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0044972	eosinophil disorder		Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.
http://purl.obolibrary.org/obo/MONDO_0015694	malignant melanoma of the mucosa	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		A melanoma (disease) that involves the mucosa.
http://purl.obolibrary.org/obo/MONDO_0015696	Good syndrome	http://purl.obolibrary.org/obo/MONDO_0017769	acquired immunodeficiency		Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.
http://purl.obolibrary.org/obo/MONDO_0015698	transient hypogammaglobulinemia of infancy	http://purl.obolibrary.org/obo/MONDO_0003827	transient hypogammaglobulinemia		A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.
http://purl.obolibrary.org/obo/MONDO_0015722	congenital vitamin K-dependent coagulation factors deficiency	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.
http://purl.obolibrary.org/obo/MONDO_0015723	trisomy 12p	http://purl.obolibrary.org/obo/MONDO_0016933	partial trisomy/tetrasomy of the short arm of chromosome 12		Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.
http://purl.obolibrary.org/obo/MONDO_0015725	mosaic trisomy 14	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.
http://purl.obolibrary.org/obo/MONDO_0015729	mosaic trisomy 16	http://purl.obolibrary.org/obo/MONDO_0022180	chromosome 16 trisomy		Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0015735	severe congenital nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0016194	neuromuscular disease caused by qualitative or quantitative defects of nebulin		Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.
http://purl.obolibrary.org/obo/MONDO_0015738	childhood-onset nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0016194	neuromuscular disease caused by qualitative or quantitative defects of nebulin		Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
http://purl.obolibrary.org/obo/MONDO_0015739	adult-onset nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0016194	neuromuscular disease caused by qualitative or quantitative defects of nebulin		Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.
http://purl.obolibrary.org/obo/MONDO_0015740	trisomy 18p	http://purl.obolibrary.org/obo/MONDO_0016951	partial trisomy/tetrasomy of the short arm of chromosome 18		Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0015742	periventricular leukomalacia	http://purl.obolibrary.org/obo/MONDO_0006741	encephalomalacia		Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.
http://purl.obolibrary.org/obo/MONDO_0015748	hereditary mucosal leukokeratosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.
http://purl.obolibrary.org/obo/MONDO_0015753	cap myopathy	http://purl.obolibrary.org/obo/MONDO_0100108	TPM3-related myopathy		Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
http://purl.obolibrary.org/obo/MONDO_0015761	trisomy 10p	http://purl.obolibrary.org/obo/MONDO_0016947	partial duplication of the short arm of chromosome 10		Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.
http://purl.obolibrary.org/obo/MONDO_0015766	cholera	http://purl.obolibrary.org/obo/MONDO_0007014	vibrio infectious disease		Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.
http://purl.obolibrary.org/obo/MONDO_0015767	trisomy 4p	http://purl.obolibrary.org/obo/MONDO_0016941	partial duplication of the short arm of chromosome 4		Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.
http://purl.obolibrary.org/obo/MONDO_0015771	mosaic trisomy 7	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015772	trisomy 8q	http://purl.obolibrary.org/obo/MONDO_0016959	partial duplication of the long arm of chromosome 8		Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.
http://purl.obolibrary.org/obo/MONDO_0015774	thoraco-abdominal enteric duplication	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015776	rhizomelic chondrodysplasia punctata	http://purl.obolibrary.org/obo/MONDO_0017986	disorder of plasmalogens biosynthesis		Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.
http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
http://purl.obolibrary.org/obo/MONDO_0015781	facial dysmorphism-shawl scrotum-joint laxity syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0015796	acute lung injury	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).
http://purl.obolibrary.org/obo/MONDO_0015797	UV-sensitive syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.
http://purl.obolibrary.org/obo/MONDO_0015798	inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.
http://purl.obolibrary.org/obo/MONDO_0015799	Smith-McCort dysplasia	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.
http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Autosomal dominant form of non-syndromic intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0015803	wound botulism	http://purl.obolibrary.org/obo/MONDO_0016468	toxin-mediated infectious botulism		Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.
http://purl.obolibrary.org/obo/MONDO_0015804	infant botulism	http://purl.obolibrary.org/obo/MONDO_0015805	intestinal botulism		A botulism that occurs between 28 days to one year of life..
http://purl.obolibrary.org/obo/MONDO_0015805	intestinal botulism	http://purl.obolibrary.org/obo/MONDO_0016468	toxin-mediated infectious botulism		A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).
http://purl.obolibrary.org/obo/MONDO_0015863	polyembryoma	http://purl.obolibrary.org/obo/MONDO_0003578	extragonadal nonseminomatous germ cell tumor		Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.
http://purl.obolibrary.org/obo/MONDO_0015867	vaginal carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0015871	benign breast phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0037002	benign phyllodes tumor		A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors.
http://purl.obolibrary.org/obo/MONDO_0015883	hidrotic ectodermal dysplasia, Halal type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0015898	adrenogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0045012	steroid metabolism disease		Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.
http://purl.obolibrary.org/obo/MONDO_0015909	aplastic anemia	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.
http://purl.obolibrary.org/obo/MONDO_0015912	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.
http://purl.obolibrary.org/obo/MONDO_0015914	primary orthostatic hypotension	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.
http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.
http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.
http://purl.obolibrary.org/obo/MONDO_0015942	frontometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018233	otopalatodigital syndrome spectrum disorder		Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0015944	axial mesodermal dysplasia spectrum	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.
http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0002211	B cell deficiency		A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.
http://purl.obolibrary.org/obo/MONDO_0015991	citrullinemia	http://purl.obolibrary.org/obo/MONDO_0004739	urea cycle disorder		Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).
http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
http://purl.obolibrary.org/obo/MONDO_0015997	ectopia lentis-chorioretinal dystrophy-myopia syndrome	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0015998	isolated ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0001176	lens disorder		Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
http://purl.obolibrary.org/obo/MONDO_0015999	primary pigmented nodular adrenocortical disease	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).
http://purl.obolibrary.org/obo/MONDO_0016001	2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
http://purl.obolibrary.org/obo/MONDO_0016003	ehrlichiosis	http://purl.obolibrary.org/obo/MONDO_0006922	Anaplasmataceae infectious disease		An disease or disorder caused by infection with Ehrlichia.
http://purl.obolibrary.org/obo/MONDO_0016006	Cockayne syndrome	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0016008	fetal hydantoin syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.
http://purl.obolibrary.org/obo/MONDO_0016009	fetal trimethadione syndrome	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.
http://purl.obolibrary.org/obo/MONDO_0016010	vitamin K-antagonist embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.
http://purl.obolibrary.org/obo/MONDO_0016011	fetal alcohol syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).
http://purl.obolibrary.org/obo/MONDO_0016012	diethylstilbestrol syndrome	http://purl.obolibrary.org/obo/MONDO_0005039	reproductive system disorder		Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.
http://purl.obolibrary.org/obo/MONDO_0016013	fetal methylmercury syndrome	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Foetal methylmercury syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.
http://purl.obolibrary.org/obo/MONDO_0016014	fetal minoxidil syndrome	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.
http://purl.obolibrary.org/obo/MONDO_0016016	toluene embryopathy	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.
http://purl.obolibrary.org/obo/MONDO_0016026	infant epilepsy with migrant focal crisis	http://purl.obolibrary.org/obo/MONDO_0020071	infantile epilepsy syndrome		An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown.
http://purl.obolibrary.org/obo/MONDO_0016027	benign neonatal seizures	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.
http://purl.obolibrary.org/obo/MONDO_0016028	erythromelalgia	http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease		A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.
http://purl.obolibrary.org/obo/MONDO_0016030	Evans syndrome	http://purl.obolibrary.org/obo/MONDO_0004680	primary thrombocytopenia		Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.
http://purl.obolibrary.org/obo/MONDO_0016033	Cornelia de Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
http://purl.obolibrary.org/obo/MONDO_0016035	Nelson syndrome	http://purl.obolibrary.org/obo/MONDO_0003429	functioning pituitary gland adenoma		A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.
http://purl.obolibrary.org/obo/MONDO_0016037	superficial Fibromatosis	http://purl.obolibrary.org/obo/MONDO_0005031	fibromatosis		A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.
http://purl.obolibrary.org/obo/MONDO_0016040	harlequin syndrome	http://purl.obolibrary.org/obo/MONDO_0001292	autonomic nervous system disorder		Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.
http://purl.obolibrary.org/obo/MONDO_0016047	endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		An infectious process affecting the internal structures of the eye.
http://purl.obolibrary.org/obo/MONDO_0016051	cleft lip-retinopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.
http://purl.obolibrary.org/obo/MONDO_0016063	Cowden disease	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.
http://purl.obolibrary.org/obo/MONDO_0016066	sternal cleft	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.
http://purl.obolibrary.org/obo/MONDO_0016067	Crandall syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.
http://purl.obolibrary.org/obo/MONDO_0016068	fibrochondrogenesis	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.
http://purl.obolibrary.org/obo/MONDO_0016070	hereditary gingival fibromatosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.
http://purl.obolibrary.org/obo/MONDO_0016075	filariasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.
http://purl.obolibrary.org/obo/MONDO_0016080	congenital bronchobiliary fistula	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A rare congenital respiratory disorder characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.
http://purl.obolibrary.org/obo/MONDO_0016083	FLOTCH syndrome	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.
http://purl.obolibrary.org/obo/MONDO_0016085	Cole-Carpenter syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
http://purl.obolibrary.org/obo/MONDO_0016101	neurolymphomatosis	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.
http://purl.obolibrary.org/obo/MONDO_0016107	myotonic dystrophy	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.
http://purl.obolibrary.org/obo/MONDO_0016129	eosinophilic gastroenteritis	http://purl.obolibrary.org/obo/MONDO_0018438	eosinophilic gastrointestinal disease		Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.
http://purl.obolibrary.org/obo/MONDO_0016158	narcolepsy-cataplexy syndrome	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).
http://purl.obolibrary.org/obo/MONDO_0016162	bilateral frontal polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0017091	bilateral polymicrogyria		Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016167	optic pathway glioma	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).
http://purl.obolibrary.org/obo/MONDO_0016175	cutis laxa	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
http://purl.obolibrary.org/obo/MONDO_0016215	spastic quadriplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.
http://purl.obolibrary.org/obo/MONDO_0016222	spindle cell hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.
http://purl.obolibrary.org/obo/MONDO_0016225	specific learning disability	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)
http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.
http://purl.obolibrary.org/obo/MONDO_0016236	kaposiform hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.
http://purl.obolibrary.org/obo/MONDO_0016237	diffuse neonatal hemangiomatosis	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.
http://purl.obolibrary.org/obo/MONDO_0016238	solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0006209	fibroblastic neoplasm		Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).
http://purl.obolibrary.org/obo/MONDO_0016239	cystinosis	http://purl.obolibrary.org/obo/MONDO_0019246	inborn disorder of lysosomal amino acid transport		Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
http://purl.obolibrary.org/obo/MONDO_0016241	alternating hemiplegia of childhood	http://purl.obolibrary.org/obo/MONDO_0016210	alternating hemiplegia		A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
http://purl.obolibrary.org/obo/MONDO_0016242	hemoglobin C disease	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
http://purl.obolibrary.org/obo/MONDO_0016243	hemoglobin E disease	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.
http://purl.obolibrary.org/obo/MONDO_0016244	atypical hemolytic-uremic syndrome	http://purl.obolibrary.org/obo/MONDO_0957097	hereditary hemolytic uremic syndrome		A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.
http://purl.obolibrary.org/obo/MONDO_0016256	Hennekam syndrome	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0016281	46,XX ovotesticular disorder of sex development	http://purl.obolibrary.org/obo/MONDO_0002145	disorder of sexual differentiation		46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.
http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0018762	non-acquired combined pituitary hormone deficiency		Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.
http://purl.obolibrary.org/obo/MONDO_0016301	congenitally corrected transposition of the great arteries	http://purl.obolibrary.org/obo/MONDO_0000153	transposition of the great arteries		Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.
http://purl.obolibrary.org/obo/MONDO_0016318	progressive multifocal leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0020067	infectious encephalitis		Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).
http://purl.obolibrary.org/obo/MONDO_0016344	hydranencephaly	http://purl.obolibrary.org/obo/MONDO_0017103	encephaloclastic disorder		A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0016351	anti-HLA hyperimmunization	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.
http://purl.obolibrary.org/obo/MONDO_0016356	diffuse cutaneous systemic sclerosis	http://purl.obolibrary.org/obo/MONDO_0005100	systemic sclerosis		Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).
http://purl.obolibrary.org/obo/MONDO_0016370	Marchiafava-Bignami disease	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.
http://purl.obolibrary.org/obo/MONDO_0016372	glossopharyngeal neuralgia	http://purl.obolibrary.org/obo/MONDO_0002639	glossopharyngeal nerve disorder		Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.
http://purl.obolibrary.org/obo/MONDO_0016377	Pitt-Hopkins-like syndrome	http://purl.obolibrary.org/obo/MONDO_0980732	Pitt-Hopkins or Pitt-Hopkins-like syndrome		Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.
http://purl.obolibrary.org/obo/MONDO_0016379	erosive pustular dermatosis of the scalp	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.
http://purl.obolibrary.org/obo/MONDO_0016380	acquired hypertrichosis lanuginosa	http://purl.obolibrary.org/obo/MONDO_0019280	hypertrichosis		Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.
http://purl.obolibrary.org/obo/MONDO_0016381	hypertrichosis lanuginosa congenita	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.
http://purl.obolibrary.org/obo/MONDO_0016383	nephrogenic diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children.
http://purl.obolibrary.org/obo/MONDO_0016385	hypogonadism-mitral valve prolapse-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.
http://purl.obolibrary.org/obo/MONDO_0016386	hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.
http://purl.obolibrary.org/obo/MONDO_0016391	neonatal diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0015967	monogenic diabetes		Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.
http://purl.obolibrary.org/obo/MONDO_0016410	central congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0016408	permanent congenital hypothyroidism		Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.
http://purl.obolibrary.org/obo/MONDO_0016419	hereditary breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004989	breast carcinoma		Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.
http://purl.obolibrary.org/obo/MONDO_0016426	fusariosis	http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis		Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.
http://purl.obolibrary.org/obo/MONDO_0016439	elastoderma	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.
http://purl.obolibrary.org/obo/MONDO_0016444	primary anetoderma	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.
http://purl.obolibrary.org/obo/MONDO_0016453	foodborne botulism	http://purl.obolibrary.org/obo/MONDO_0005498	botulism		Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.
http://purl.obolibrary.org/obo/MONDO_0016458	8q12 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016959	partial duplication of the long arm of chromosome 8		The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.
http://purl.obolibrary.org/obo/MONDO_0016459	2q23.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2		The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
http://purl.obolibrary.org/obo/MONDO_0016467	isotretinoin syndrome	http://purl.obolibrary.org/obo/MONDO_0009473	isotretinoin-like syndrome		Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.
http://purl.obolibrary.org/obo/MONDO_0016471	pachyonychia congenita	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
http://purl.obolibrary.org/obo/MONDO_0016472	dracunculiasis	http://purl.obolibrary.org/obo/MONDO_0016075	filariasis		Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).
http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
http://purl.obolibrary.org/obo/MONDO_0016484	Usher syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0019501	Usher syndrome		A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.
http://purl.obolibrary.org/obo/MONDO_0016485	Usher syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0019501	Usher syndrome		A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.
http://purl.obolibrary.org/obo/MONDO_0016489	delta-beta-thalassemia	http://purl.obolibrary.org/obo/MONDO_0017145	beta-thalassemia and related diseases		Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
http://purl.obolibrary.org/obo/MONDO_0016512	Kabuki syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
http://purl.obolibrary.org/obo/MONDO_0016516	Kenny-Caffey syndrome	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.
http://purl.obolibrary.org/obo/MONDO_0016522	Kousseff syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.
http://purl.obolibrary.org/obo/MONDO_0016523	bronchogenic cyst	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0016525	familial hyperaldosteronism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.
http://purl.obolibrary.org/obo/MONDO_0016528	limb body wall complex	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.
http://purl.obolibrary.org/obo/MONDO_0016529	duplication of urethra	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.
http://purl.obolibrary.org/obo/MONDO_0016530	laryngocele	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.
http://purl.obolibrary.org/obo/MONDO_0016532	Lennox-Gastaut syndrome	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.
http://purl.obolibrary.org/obo/MONDO_0016535	hypohidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).
http://purl.obolibrary.org/obo/MONDO_0016537	lymphoproliferative syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).
http://purl.obolibrary.org/obo/MONDO_0016543	hyperphenylalaninemia due to tetrahydrobiopterin deficiency	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.
http://purl.obolibrary.org/obo/MONDO_0016546	primary orthostatic tremor	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.
http://purl.obolibrary.org/obo/MONDO_0016561	1q44 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0022756	chromosome 1q deletion		1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
http://purl.obolibrary.org/obo/MONDO_0016566	loiasis	http://purl.obolibrary.org/obo/MONDO_0016075	filariasis		Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.
http://purl.obolibrary.org/obo/MONDO_0016567	locked-in syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.
http://purl.obolibrary.org/obo/MONDO_0016571	macrocephaly-short stature-paraplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.
http://purl.obolibrary.org/obo/MONDO_0016573	acute fatty liver of pregnancy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.
http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
http://purl.obolibrary.org/obo/MONDO_0016576	split hand-foot malformation	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.
http://purl.obolibrary.org/obo/MONDO_0016580	congenital pulmonary airway malformation	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.
http://purl.obolibrary.org/obo/MONDO_0016587	arrhythmogenic right ventricular cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0000591	intrinsic cardiomyopathy		Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.
http://purl.obolibrary.org/obo/MONDO_0016588	infantile mercury poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.
http://purl.obolibrary.org/obo/MONDO_0016595	inhalational anthrax	http://purl.obolibrary.org/obo/MONDO_0005119	anthrax infection		A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.
http://purl.obolibrary.org/obo/MONDO_0016608	megalencephaly	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).
http://purl.obolibrary.org/obo/MONDO_0016611	lipoblastoma	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.
http://purl.obolibrary.org/obo/MONDO_0016619	autosomal recessive hypohidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016535	hypohidrotic ectodermal dysplasia		A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.
http://purl.obolibrary.org/obo/MONDO_0016620	primary hypertrophic osteoarthropathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.
http://purl.obolibrary.org/obo/MONDO_0016621	juvenile Huntington disease	http://purl.obolibrary.org/obo/MONDO_0007739	Huntington disease		Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.
http://purl.obolibrary.org/obo/MONDO_0016622	Melhem-Fahl syndrome	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
http://purl.obolibrary.org/obo/MONDO_0016639	lower limb deficiency-hypospadias syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.
http://purl.obolibrary.org/obo/MONDO_0016642	meningioma	http://purl.obolibrary.org/obo/MONDO_0016743	tumor of meninges		A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0016643	frontonasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.
http://purl.obolibrary.org/obo/MONDO_0016644	logopenic progressive aphasia	http://purl.obolibrary.org/obo/MONDO_0019806	primary progressive aphasia		Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.
http://purl.obolibrary.org/obo/MONDO_0016648	multiple epiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.
http://purl.obolibrary.org/obo/MONDO_0016649	Warburg micro syndrome	http://purl.obolibrary.org/obo/MONDO_0700247	RAB18 deficiency		Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.
http://purl.obolibrary.org/obo/MONDO_0016654	ring chromosome 5	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).
http://purl.obolibrary.org/obo/MONDO_0016658	8p23.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016890	partial deletion of the short arm of chromosome 8		8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
http://purl.obolibrary.org/obo/MONDO_0016659	8p23.1 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016945	partial duplication of the short arm of chromosome 8		8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
http://purl.obolibrary.org/obo/MONDO_0016673	localized junctional epidermolysis bullosa, non-Herlitz type	http://purl.obolibrary.org/obo/MONDO_0009180	junctional epidermolysis bullosa, non-Herlitz type		Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.
http://purl.obolibrary.org/obo/MONDO_0016681	gliosarcoma	http://purl.obolibrary.org/obo/MONDO_0002501	brain glioblastoma		A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).
http://purl.obolibrary.org/obo/MONDO_0016682	giant cell glioblastoma	http://purl.obolibrary.org/obo/MONDO_0002501	brain glioblastoma		A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)
http://purl.obolibrary.org/obo/MONDO_0016683	gliomatosis cerebri	http://purl.obolibrary.org/obo/MONDO_0016680	high grade astrocytic tumor		A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)
http://purl.obolibrary.org/obo/MONDO_0016687	protoplasmic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016686	diffuse astrocytoma		A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0016688	fibrillary astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016686	diffuse astrocytoma		The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)
http://purl.obolibrary.org/obo/MONDO_0016689	gemistocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016686	diffuse astrocytoma		A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0016690	pleomorphic xanthoastrocytoma	http://purl.obolibrary.org/obo/MONDO_0016685	low-grade astrocytoma		A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.
http://purl.obolibrary.org/obo/MONDO_0016691	pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016685	low-grade astrocytoma		Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.
http://purl.obolibrary.org/obo/MONDO_0016692	pilomyxoid astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016691	pilocytic astrocytoma		An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.
http://purl.obolibrary.org/obo/MONDO_0016693	subependymal giant cell astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016685	low-grade astrocytoma		A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)
http://purl.obolibrary.org/obo/MONDO_0016695	oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0021639	grade II glioma		A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0016696	anaplastic oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0020633	anaplastic cancer		A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).
http://purl.obolibrary.org/obo/MONDO_0016699	myxopapillary ependymoma	http://purl.obolibrary.org/obo/MONDO_0003266	ependymal tumor		Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.
http://purl.obolibrary.org/obo/MONDO_0016700	anaplastic ependymoma	http://purl.obolibrary.org/obo/MONDO_0020633	anaplastic cancer		Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.
http://purl.obolibrary.org/obo/MONDO_0016702	oligoastrocytoma	http://purl.obolibrary.org/obo/MONDO_0021639	grade II glioma		A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)
http://purl.obolibrary.org/obo/MONDO_0016703	anaplastic oligoastrocytoma	http://purl.obolibrary.org/obo/MONDO_0020633	anaplastic cancer		An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0016706	chordoid glioma of the third ventricle	http://purl.obolibrary.org/obo/MONDO_0021639	grade II glioma		A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.
http://purl.obolibrary.org/obo/MONDO_0016707	astroblastoma	http://purl.obolibrary.org/obo/MONDO_0021042	glioma		Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.
http://purl.obolibrary.org/obo/MONDO_0016715	ependymoblastoma	http://purl.obolibrary.org/obo/MONDO_0016713	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor		Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0016718	choroid plexus carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0016722	pineoblastoma	http://purl.obolibrary.org/obo/MONDO_0005564	embryonal neoplasm		Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0016723	pineocytoma	http://purl.obolibrary.org/obo/MONDO_0024890	pineal parenchymal cell neoplasm		Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.
http://purl.obolibrary.org/obo/MONDO_0016730	gangliocytoma	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.
http://purl.obolibrary.org/obo/MONDO_0016733	ganglioglioma	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0016734	anaplastic ganglioglioma	http://purl.obolibrary.org/obo/MONDO_0016733	ganglioglioma		A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0016746	meningeal melanocytoma	http://purl.obolibrary.org/obo/MONDO_0003222	central nervous system melanocytic neoplasm		A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.
http://purl.obolibrary.org/obo/MONDO_0016747	primary melanoma of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0006320	non-cutaneous melanoma		A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.
http://purl.obolibrary.org/obo/MONDO_0016748	hemangioblastoma	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.
http://purl.obolibrary.org/obo/MONDO_0016750	microcephaly-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.
http://purl.obolibrary.org/obo/MONDO_0016755	neurofibroma	http://purl.obolibrary.org/obo/MONDO_0016752	benign peripheral nerve sheath tumor		An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.
http://purl.obolibrary.org/obo/MONDO_0016757	malignant triton tumor	http://purl.obolibrary.org/obo/MONDO_0017827	malignant peripheral nerve sheath tumor		Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.
http://purl.obolibrary.org/obo/MONDO_0016759	pontocerebellar hypoplasia type 2	http://purl.obolibrary.org/obo/MONDO_0016113	bulbospinal muscular atrophy		Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
http://purl.obolibrary.org/obo/MONDO_0016760	microcephaly-microcornea syndrome, Seemanova type	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.
http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.
http://purl.obolibrary.org/obo/MONDO_0016765	19p13.12 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016897	partial deletion of the short arm of chromosome 19		19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0016769	linear lichen planus	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.
http://purl.obolibrary.org/obo/MONDO_0016770	actinic lichen planus	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.
http://purl.obolibrary.org/obo/MONDO_0016771	annular atrophic lichen planus	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.
http://purl.obolibrary.org/obo/MONDO_0016772	annular lichen planus	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.
http://purl.obolibrary.org/obo/MONDO_0016773	atrophic lichen planus	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.
http://purl.obolibrary.org/obo/MONDO_0016774	lichen planus pigmentosus	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.
http://purl.obolibrary.org/obo/MONDO_0016775	lichen planus pemphigoides	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.
http://purl.obolibrary.org/obo/MONDO_0016776	frontal fibrosing alopecia	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.
http://purl.obolibrary.org/obo/MONDO_0016810	autosomal recessive progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Autosomal recessive form of progressive external ophthalmoplegia.
http://purl.obolibrary.org/obo/MONDO_0016814	maternally-inherited Leigh syndrome	http://purl.obolibrary.org/obo/MONDO_0009723	Leigh syndrome		Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
http://purl.obolibrary.org/obo/MONDO_0016824	infantile myofibromatosis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.
http://purl.obolibrary.org/obo/MONDO_0016826	methylmalonic aciduria and homocystinuria	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
http://purl.obolibrary.org/obo/MONDO_0016830	Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0016837	16p13.11 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016949	partial duplication of the short arm of chromosome 16		16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
http://purl.obolibrary.org/obo/MONDO_0016838	16q24.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016914	partial deletion of the long arm of chromosome 16		16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
http://purl.obolibrary.org/obo/MONDO_0016840	trisomy 17p	http://purl.obolibrary.org/obo/MONDO_0016950	partial duplication of the short arm of chromosome 17		Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
http://purl.obolibrary.org/obo/MONDO_0016841	20p12.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016898	partial monosomy of the short arm of chromosome 20		20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0016844	trisomy 20p	http://purl.obolibrary.org/obo/MONDO_0016938	partial trisomy of chromosome 20		Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
http://purl.obolibrary.org/obo/MONDO_0016848	juvenile temporal arteritis	http://purl.obolibrary.org/obo/MONDO_0043494	arteritis		Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.
http://purl.obolibrary.org/obo/MONDO_0016854	49,XXXYY syndrome	http://purl.obolibrary.org/obo/MONDO_0700064	aneuploidy		49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016890	partial deletion of the short arm of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0016873	partial deletion of chromosome 8		Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016910	partial deletion of the long arm of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016876	partial deletion of chromosome 11		A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.
http://purl.obolibrary.org/obo/MONDO_0016911	partial deletion of the long arm of chromosome 13	http://purl.obolibrary.org/obo/MONDO_0000761	syndrome caused by partial chromosomal deletion		A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.
http://purl.obolibrary.org/obo/MONDO_0016971	limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.
http://purl.obolibrary.org/obo/MONDO_0016975	thymoma type AB	http://purl.obolibrary.org/obo/MONDO_0006456	thymoma		A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.
http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.
http://purl.obolibrary.org/obo/MONDO_0016984	nevus of Ota	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.
http://purl.obolibrary.org/obo/MONDO_0016985	nevus of Ito	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.
http://purl.obolibrary.org/obo/MONDO_0016987	neuroacanthocytosis	http://purl.obolibrary.org/obo/MONDO_0015548	Huntington disease-like syndrome		Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.
http://purl.obolibrary.org/obo/MONDO_0016990	acquired prothrombin deficiency	http://purl.obolibrary.org/obo/MONDO_0024307	prothrombin deficiency		An instance of prothrombin deficiency that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0017013	trisomy 8p	http://purl.obolibrary.org/obo/MONDO_0016945	partial duplication of the short arm of chromosome 8		Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.
http://purl.obolibrary.org/obo/MONDO_0017042	thanatophoric dysplasia	http://purl.obolibrary.org/obo/MONDO_0019685	FGFR3-related chondrodysplasia		A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.
http://purl.obolibrary.org/obo/MONDO_0017043	congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0036511	childhood malignant kidney neoplasm		A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.
http://purl.obolibrary.org/obo/MONDO_0017045	neuroectodermal-endocrine syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.
http://purl.obolibrary.org/obo/MONDO_0017046	neuroepithelioma	http://purl.obolibrary.org/obo/MONDO_0021193	neuroepithelial neoplasm		Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.
http://purl.obolibrary.org/obo/MONDO_0017048	pseudomyxoma peritonei	http://purl.obolibrary.org/obo/MONDO_0700336	peritoneal carcinomatosis		Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.
http://purl.obolibrary.org/obo/MONDO_0017058	autosomal recessive intermediate Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0018778	intermediate Charcot-Marie-Tooth disease		Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.
http://purl.obolibrary.org/obo/MONDO_0017094	cerebral cortical dysplasia	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0017124	noma	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.
http://purl.obolibrary.org/obo/MONDO_0017136	omodysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
http://purl.obolibrary.org/obo/MONDO_0017137	onchocerciasis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.
http://purl.obolibrary.org/obo/MONDO_0017138	Opitz G/BBB syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).
http://purl.obolibrary.org/obo/MONDO_0017169	multiple endocrine neoplasia	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.
http://purl.obolibrary.org/obo/MONDO_0017178	osteochondritis dissecans	http://purl.obolibrary.org/obo/MONDO_0018383	osteonecrosis of genetic origin		A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.
http://purl.obolibrary.org/obo/MONDO_0017181	hypnic headache	http://purl.obolibrary.org/obo/MONDO_0021146	headache disorder		Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.
http://purl.obolibrary.org/obo/MONDO_0017194	Blount disease	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.
http://purl.obolibrary.org/obo/MONDO_0017195	Bruck syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.
http://purl.obolibrary.org/obo/MONDO_0017197	osteopathia striata-pigmentary dermopathy-white forelock syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.
http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
http://purl.obolibrary.org/obo/MONDO_0017200	polycystic ovaries-urethral sphincter dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.
http://purl.obolibrary.org/obo/MONDO_0017202	acute endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of endophthalmitis.
http://purl.obolibrary.org/obo/MONDO_0017203	chronic endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0004863	purulent endophthalmitis		Chronic form of endophthalmitis.
http://purl.obolibrary.org/obo/MONDO_0017210	infectious anterior uveitis	http://purl.obolibrary.org/obo/MONDO_0016047	endophthalmitis		An infectious disease involving a pathogenic inflammatory response in the anterior uvea.
http://purl.obolibrary.org/obo/MONDO_0017213	postorgasmic illness syndrome	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.
http://purl.obolibrary.org/obo/MONDO_0017214	vitamin B12-responsive methylmalonic acidemia	http://purl.obolibrary.org/obo/MONDO_0002012	methylmalonic acidemia		An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).
http://purl.obolibrary.org/obo/MONDO_0017215	calciphylaxis	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.
http://purl.obolibrary.org/obo/MONDO_0017226	Pelizaeus-Merzbacher-like disease	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).
http://purl.obolibrary.org/obo/MONDO_0017236	rapidly progressive glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.
http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		Autosomal recessive form of inherited ichthyosis.
http://purl.obolibrary.org/obo/MONDO_0017275	spastic paraplegia-facial-cutaneous lesions syndrome	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.
http://purl.obolibrary.org/obo/MONDO_0017276	frontotemporal dementia	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.
http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0005180	Parkinson disease		A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.
http://purl.obolibrary.org/obo/MONDO_0017280	demodicidosis	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.
http://purl.obolibrary.org/obo/MONDO_0017282	alveolar echinococcosis	http://purl.obolibrary.org/obo/MONDO_0005738	echinococcosis		Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.
http://purl.obolibrary.org/obo/MONDO_0017285	penoscrotal transposition	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).
http://purl.obolibrary.org/obo/MONDO_0017286	tempi syndrome	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.
http://purl.obolibrary.org/obo/MONDO_0017291	reversible cerebral vasoconstriction syndrome	http://purl.obolibrary.org/obo/MONDO_0021146	headache disorder		Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.
http://purl.obolibrary.org/obo/MONDO_0017298	acute zonal occult outer retinopathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.
http://purl.obolibrary.org/obo/MONDO_0017304	ocular albinism	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0017314	Ehlers-Danlos syndrome, vascular type	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
http://purl.obolibrary.org/obo/MONDO_0017315	short stature-webbed neck-heart disease syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.
http://purl.obolibrary.org/obo/MONDO_0017319	hereditary elliptocytosis	http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia		Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0017324	autosomal recessive hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
http://purl.obolibrary.org/obo/MONDO_0017331	Pilotto syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.
http://purl.obolibrary.org/obo/MONDO_0017347	plasmablastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder		An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone.
http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria	http://purl.obolibrary.org/obo/MONDO_0019215	classic organic aciduria		A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.
http://purl.obolibrary.org/obo/MONDO_0017361	congenital rubella syndrome	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.
http://purl.obolibrary.org/obo/MONDO_0017363	idiopathic chronic eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0015927	idiopathic eosinophilic pneumonia		A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).
http://purl.obolibrary.org/obo/MONDO_0017364	POEMS syndrome	http://purl.obolibrary.org/obo/MONDO_0018215	paraneoplastic neurologic syndrome		POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.
http://purl.obolibrary.org/obo/MONDO_0017366	hereditary pheochromocytoma-paraganglioma	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Neoplasm predisposition characterized by an increased risk of paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla).
http://purl.obolibrary.org/obo/MONDO_0017372	congenital varicella syndrome	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.
http://purl.obolibrary.org/obo/MONDO_0017376	reactive arthritis	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.
http://purl.obolibrary.org/obo/MONDO_0017377	preaxial polydactyly-colobomata-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0017384	acute generalized exanthematous pustulosis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A widespread acute rash characterized by fever and multiple small pustules on a reddish background.
http://purl.obolibrary.org/obo/MONDO_0017386	pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.
http://purl.obolibrary.org/obo/MONDO_0017387	epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).
http://purl.obolibrary.org/obo/MONDO_0017398	3MC syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
http://purl.obolibrary.org/obo/MONDO_0017410	porencephaly	http://purl.obolibrary.org/obo/MONDO_0017103	encephaloclastic disorder		Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.
http://purl.obolibrary.org/obo/MONDO_0017417	renal-hepatic-pancreatic dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.
http://purl.obolibrary.org/obo/MONDO_0017425	preaxial polydactyly of fingers	http://purl.obolibrary.org/obo/MONDO_0011348	non-syndromic polydactyly		Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.
http://purl.obolibrary.org/obo/MONDO_0017435	popliteal pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0015225	arthrogryposis syndrome		A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.
http://purl.obolibrary.org/obo/MONDO_0017436	lethal congenital contracture syndrome	http://purl.obolibrary.org/obo/MONDO_0015225	arthrogryposis syndrome		A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
http://purl.obolibrary.org/obo/MONDO_0017453	fetal parvovirus syndrome	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.
http://purl.obolibrary.org/obo/MONDO_0017570	leukocyte adhesion deficiency	http://purl.obolibrary.org/obo/MONDO_0015978	functional neutrophil defect		Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.
http://purl.obolibrary.org/obo/MONDO_0017572	tick-borne encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.
http://purl.obolibrary.org/obo/MONDO_0017574	chronic intestinal pseudoobstruction	http://purl.obolibrary.org/obo/MONDO_0002803	intestinal pseudo-obstruction		Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.
http://purl.obolibrary.org/obo/MONDO_0017576	46,XX disorder of sex development	http://purl.obolibrary.org/obo/MONDO_0002145	disorder of sexual differentiation		Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.
http://purl.obolibrary.org/obo/MONDO_0017577	spontaneous periodic hypothermia	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.
http://purl.obolibrary.org/obo/MONDO_0017579	Baraitser-Winter cerebrofrontofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.
http://purl.obolibrary.org/obo/MONDO_0017582	pituitary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.
http://purl.obolibrary.org/obo/MONDO_0017586	onychocytic matricoma	http://purl.obolibrary.org/obo/MONDO_0017588	nail tumor		Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.
http://purl.obolibrary.org/obo/MONDO_0017590	carcinoma of the ampulla of vater	http://purl.obolibrary.org/obo/MONDO_0003090	extrahepatic bile duct carcinoma		A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0017593	juvenile amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.
http://purl.obolibrary.org/obo/MONDO_0017597	T-cell/histiocyte rich large B cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0017598	primary cutaneous anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020633	anaplastic cancer		Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.
http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex	http://purl.obolibrary.org/obo/MONDO_0019276	inherited epidermolysis bullosa		Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.
http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0019276	inherited epidermolysis bullosa		Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.
http://purl.obolibrary.org/obo/MONDO_0017614	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
http://purl.obolibrary.org/obo/MONDO_0017615	benign familial infantile epilepsy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
http://purl.obolibrary.org/obo/MONDO_0017623	PTEN hamartoma tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.
http://purl.obolibrary.org/obo/MONDO_0017624	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0018100	familial primary hypomagnesemia		Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).
http://purl.obolibrary.org/obo/MONDO_0017638	manganese poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (Parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)
http://purl.obolibrary.org/obo/MONDO_0017675	punctate palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma		A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
http://purl.obolibrary.org/obo/MONDO_0017682	intellectual disability-polydactyly-uncombable hair syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.
http://purl.obolibrary.org/obo/MONDO_0017704	familial partial epilepsy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0017719	gangliosidosis	http://purl.obolibrary.org/obo/MONDO_0019255	sphingolipidosis		A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
http://purl.obolibrary.org/obo/MONDO_0017767	rheumatic fever	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.
http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).
http://purl.obolibrary.org/obo/MONDO_0017774	hypobetalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0001822	hypolipoproteinemia		A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.
http://purl.obolibrary.org/obo/MONDO_0017775	melioidosis	http://purl.obolibrary.org/obo/MONDO_0000314	primary bacterial infectious disease		An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.
http://purl.obolibrary.org/obo/MONDO_0017776	nocardiosis	http://purl.obolibrary.org/obo/MONDO_0000316	opportunistic bacterial infectious disease		Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.
http://purl.obolibrary.org/obo/MONDO_0017795	ameloblastoma	http://purl.obolibrary.org/obo/MONDO_0021192	odontogenic neoplasm		The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.
http://purl.obolibrary.org/obo/MONDO_0017799	Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.
http://purl.obolibrary.org/obo/MONDO_0017813	van Maldergem syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.
http://purl.obolibrary.org/obo/MONDO_0017827	malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.
http://purl.obolibrary.org/obo/MONDO_0017838	sclerosteosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
http://purl.obolibrary.org/obo/MONDO_0017842	Senior-Loken syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
http://purl.obolibrary.org/obo/MONDO_0017849	Siegler-Brewer-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.
http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.
http://purl.obolibrary.org/obo/MONDO_0017858	acute erythroid leukemia	http://purl.obolibrary.org/obo/MONDO_0020703	erythroid neoplasm		An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0017872	Lujo hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.
http://purl.obolibrary.org/obo/MONDO_0017874	Argentine hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.
http://purl.obolibrary.org/obo/MONDO_0017875	Bolivian hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.
http://purl.obolibrary.org/obo/MONDO_0017876	Venezuelan hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.
http://purl.obolibrary.org/obo/MONDO_0017877	Brazilian hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.
http://purl.obolibrary.org/obo/MONDO_0017878	Chapare hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.
http://purl.obolibrary.org/obo/MONDO_0017879	hantavirus pulmonary syndrome	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.
http://purl.obolibrary.org/obo/MONDO_0017880	Rift valley fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.
http://purl.obolibrary.org/obo/MONDO_0017881	Kyasanur forest disease	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.
http://purl.obolibrary.org/obo/MONDO_0017882	Omsk hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.
http://purl.obolibrary.org/obo/MONDO_0017884	papillary renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005549	renal cell adenocarcinoma		A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0017885	chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005549	renal cell adenocarcinoma		Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.
http://purl.obolibrary.org/obo/MONDO_0017904	steroid dehydrogenase deficiency-dental anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.
http://purl.obolibrary.org/obo/MONDO_0017910	dehydrated hereditary stomatocytosis	http://purl.obolibrary.org/obo/MONDO_0020102	hereditary stomatocytosis		Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.
http://purl.obolibrary.org/obo/MONDO_0017918	white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.
http://purl.obolibrary.org/obo/MONDO_0017919	exstrophy-epispadias complex	http://purl.obolibrary.org/obo/MONDO_0019356	urogenital tract malformation		A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.
http://purl.obolibrary.org/obo/MONDO_0017920	deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
http://purl.obolibrary.org/obo/MONDO_0017923	multiple synostoses syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
http://purl.obolibrary.org/obo/MONDO_0017941	chikungunya	http://purl.obolibrary.org/obo/MONDO_0018093	arbovirus fever		An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.
http://purl.obolibrary.org/obo/MONDO_0017975	sex chromosome disorder of sex development	http://purl.obolibrary.org/obo/MONDO_0002145	disorder of sexual differentiation		Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.
http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
http://purl.obolibrary.org/obo/MONDO_0017987	syringomyelia	http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder		Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).
http://purl.obolibrary.org/obo/MONDO_0017989	His bundle tachycardia	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.
http://purl.obolibrary.org/obo/MONDO_0017990	catecholaminergic polymorphic ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0020575	polymorphic ventricular tachycardia		Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
http://purl.obolibrary.org/obo/MONDO_0018019	lead poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.
http://purl.obolibrary.org/obo/MONDO_0018020	mercury poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.
http://purl.obolibrary.org/obo/MONDO_0018024	hydroa vacciniforme	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.
http://purl.obolibrary.org/obo/MONDO_0018026	tetraploidy syndrome	http://purl.obolibrary.org/obo/MONDO_0019934	polyploidy		The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.
http://purl.obolibrary.org/obo/MONDO_0018027	duplication/inversion 15q11	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0018030	tetrasomy 9p	http://purl.obolibrary.org/obo/MONDO_0700043	syndrome caused by partial chromosomal duplication of the short arm of chromosome 9		Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).
http://purl.obolibrary.org/obo/MONDO_0018039	selective IgM deficiency	http://purl.obolibrary.org/obo/MONDO_0001342	dysgammaglobulinemia		Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.
http://purl.obolibrary.org/obo/MONDO_0018044	idiopathic hypersomnia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.
http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.
http://purl.obolibrary.org/obo/MONDO_0018058	tracheal agenesis	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.
http://purl.obolibrary.org/obo/MONDO_0018059	meningococcal meningitis	http://purl.obolibrary.org/obo/MONDO_0006670	bacterial meningitis		An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0018060	congenital fibrinogen deficiency	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).
http://purl.obolibrary.org/obo/MONDO_0018061	trichodermodysplasia-dental alterations syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.
http://purl.obolibrary.org/obo/MONDO_0018066	trisomy X	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).
http://purl.obolibrary.org/obo/MONDO_0018067	triploidy	http://purl.obolibrary.org/obo/MONDO_0019934	polyploidy		Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0018070	familial multiple fibrofolliculoma	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.
http://purl.obolibrary.org/obo/MONDO_0018071	trisomy 18	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.
http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.
http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis	http://purl.obolibrary.org/obo/MONDO_0020590	mycobacterial infectious disease		A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use.
http://purl.obolibrary.org/obo/MONDO_0018077	tularemia	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.
http://purl.obolibrary.org/obo/MONDO_0018079	thymic epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.
http://purl.obolibrary.org/obo/MONDO_0018081	hemorrhagic fever-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.
http://purl.obolibrary.org/obo/MONDO_0018086	ulerythema ophryogenesis	http://purl.obolibrary.org/obo/MONDO_0018855	keratosis pilaris atrophicans		Ulerythema ophryogenesis is characterized by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.
http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0600002	hemorrhagic fever		A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.
http://purl.obolibrary.org/obo/MONDO_0018088	familial Mediterranean fever	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.
http://purl.obolibrary.org/obo/MONDO_0018089	double outlet right ventricle	http://purl.obolibrary.org/obo/MONDO_0002070	ventricular septal defect		Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.
http://purl.obolibrary.org/obo/MONDO_0018091	microcephaly-brachydactyly-kyphoscoliosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0018092	Vogt-Koyanagi-Harada disease	http://purl.obolibrary.org/obo/MONDO_0017255	panuveitis		A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.
http://purl.obolibrary.org/obo/MONDO_0018094	Waardenburg syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.
http://purl.obolibrary.org/obo/MONDO_0018096	Weill-Marchesani syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
http://purl.obolibrary.org/obo/MONDO_0018097	infantile spasms	http://purl.obolibrary.org/obo/MONDO_0800490	neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy		A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.
http://purl.obolibrary.org/obo/MONDO_0018100	familial primary hypomagnesemia	http://purl.obolibrary.org/obo/MONDO_0017765	disorder of magnesium transport		A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.
http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.
http://purl.obolibrary.org/obo/MONDO_0018103	Quinquaud's folliculitis decalvans	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.
http://purl.obolibrary.org/obo/MONDO_0018105	Wolfram syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).
http://purl.obolibrary.org/obo/MONDO_0018116	galactosemia	http://purl.obolibrary.org/obo/MONDO_0017690	disorder of galactose metabolism		Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.
http://purl.obolibrary.org/obo/MONDO_0018124	Oncogenic osteomalacia	http://purl.obolibrary.org/obo/MONDO_0700255	paraneoplastic renal syndrome		Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.
http://purl.obolibrary.org/obo/MONDO_0018150	Gaucher disease	http://purl.obolibrary.org/obo/MONDO_0019255	sphingolipidosis		Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.
http://purl.obolibrary.org/obo/MONDO_0018152	serpiginous choroiditis	http://purl.obolibrary.org/obo/MONDO_0001280	choroiditis		Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.
http://purl.obolibrary.org/obo/MONDO_0018153	Erdheim-Chester disease	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.
http://purl.obolibrary.org/obo/MONDO_0018155	lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.
http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
http://purl.obolibrary.org/obo/MONDO_0018166	oral submucous fibrosis	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
http://purl.obolibrary.org/obo/MONDO_0018169	morning glory syndrome	http://purl.obolibrary.org/obo/MONDO_0007354	coloboma of optic nerve		Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.
http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018175	combined deficiency of factor V and factor VIII	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.
http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus	http://purl.obolibrary.org/obo/MONDO_0100576	hereditary generalized epilepsy		A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).
http://purl.obolibrary.org/obo/MONDO_0018227	hypocomplementemic urticarial vasculitis	http://purl.obolibrary.org/obo/MONDO_0015491	immune complex mediated vasculitis		Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.
http://purl.obolibrary.org/obo/MONDO_0018229	Stevens-Johnson syndrome	http://purl.obolibrary.org/obo/MONDO_0019810	toxic epidermal necrolysis		Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.
http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis	http://purl.obolibrary.org/obo/MONDO_0005497	bone development disease		A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.
http://purl.obolibrary.org/obo/MONDO_0018269	white platelet syndrome	http://purl.obolibrary.org/obo/MONDO_0020117	alpha granule disease		White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.
http://purl.obolibrary.org/obo/MONDO_0018301	interstitial cystitis	http://purl.obolibrary.org/obo/MONDO_0006030	chronic cystitis		A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.
http://purl.obolibrary.org/obo/MONDO_0018304	Schnitzler syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.
http://purl.obolibrary.org/obo/MONDO_0018305	chronic granulomatous disease	http://purl.obolibrary.org/obo/MONDO_0024626	defective phagocytic cell engulfment		Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.
http://purl.obolibrary.org/obo/MONDO_0018306	Griscelli syndrome	http://purl.obolibrary.org/obo/MONDO_0017305	syndromic oculocutaneous albinism		Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).
http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0018308	liver mesenchymal hamartoma	http://purl.obolibrary.org/obo/MONDO_0024478	mesenchymal hamartoma		A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.
http://purl.obolibrary.org/obo/MONDO_0018309	Hirschsprung disease	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0024627	phagocytic cell dysfunction		Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.
http://purl.obolibrary.org/obo/MONDO_0018311	acromelanosis	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.
http://purl.obolibrary.org/obo/MONDO_0018312	histoplasmosis	http://purl.obolibrary.org/obo/MONDO_0000308	primary systemic mycosis		A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated.
http://purl.obolibrary.org/obo/MONDO_0018327	glomus tumor	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.
http://purl.obolibrary.org/obo/MONDO_0018349	MAN1B1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0017740	disorder of protein N-glycosylation		MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
http://purl.obolibrary.org/obo/MONDO_0018363	focal facial dermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.
http://purl.obolibrary.org/obo/MONDO_0018364	malignant epithelial tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.
http://purl.obolibrary.org/obo/MONDO_0018381	osteochondrosis	http://purl.obolibrary.org/obo/MONDO_0005380	osteonecrosis		A condition that is characterized by defective bone growth that affects the growth centers of bone.
http://purl.obolibrary.org/obo/MONDO_0018394	male infertility with teratozoospermia due to single gene mutation	http://purl.obolibrary.org/obo/MONDO_0005372	male infertility		A rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.
http://purl.obolibrary.org/obo/MONDO_0018435	acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.
http://purl.obolibrary.org/obo/MONDO_0018447	chondromyxoid fibroma	http://purl.obolibrary.org/obo/MONDO_0024470	benign chondrogenic neoplasm		An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.
http://purl.obolibrary.org/obo/MONDO_0018458	familial hypocalciuric hypercalcemia	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
http://purl.obolibrary.org/obo/MONDO_0018460	Eales disease	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.
http://purl.obolibrary.org/obo/MONDO_0018465	insulin autoimmune syndrome	http://purl.obolibrary.org/obo/MONDO_0005803	hyperinsulinemic hypoglycemia		Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood.
http://purl.obolibrary.org/obo/MONDO_0018470	renal agenesis	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).
http://purl.obolibrary.org/obo/MONDO_0018479	congenital adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0015514	hereditary endocrine growth disease		Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.
http://purl.obolibrary.org/obo/MONDO_0018486	visual snow syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.
http://purl.obolibrary.org/obo/MONDO_0018493	malignant hyperthermia of anesthesia	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.
http://purl.obolibrary.org/obo/MONDO_0018500	cutaneous larva migrans	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.
http://purl.obolibrary.org/obo/MONDO_0018543	autosomal dominant hypocalcemia	http://purl.obolibrary.org/obo/MONDO_0005557	calcium metabolic disease		Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria.
http://purl.obolibrary.org/obo/MONDO_0018546	serotonin syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).
http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.
http://purl.obolibrary.org/obo/MONDO_0018556	Lambert-Eaton myasthenic syndrome	http://purl.obolibrary.org/obo/MONDO_0018215	paraneoplastic neurologic syndrome		Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).
http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).
http://purl.obolibrary.org/obo/MONDO_0018592	cutaneous polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018593	primary polyarteritis nodosa		Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0018612	congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0005420	hypothyroidism		A thyroid hormone deficiency present from birth.
http://purl.obolibrary.org/obo/MONDO_0018615	hemicrania continua	http://purl.obolibrary.org/obo/MONDO_0015530	trigeminal autonomic cephalalgia		Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.
http://purl.obolibrary.org/obo/MONDO_0018616	central serous chorioretinopathy	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.
http://purl.obolibrary.org/obo/MONDO_0018617	baroreflex failure	http://purl.obolibrary.org/obo/MONDO_0001292	autonomic nervous system disorder		Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.
http://purl.obolibrary.org/obo/MONDO_0018626	paratyphoid fever	http://purl.obolibrary.org/obo/MONDO_0000827	salmonellosis		A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.
http://purl.obolibrary.org/obo/MONDO_0018631	Marie Unna hereditary hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0003037	hypotrichosis		A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.
http://purl.obolibrary.org/obo/MONDO_0018634	hereditary amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.
http://purl.obolibrary.org/obo/MONDO_0018638	pseudohypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0006510	renal tubular transport disease		An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.
http://purl.obolibrary.org/obo/MONDO_0018646	sclerosing cholangitis	http://purl.obolibrary.org/obo/MONDO_0004789	cholangitis		A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.
http://purl.obolibrary.org/obo/MONDO_0018661	Zika virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.
http://purl.obolibrary.org/obo/MONDO_0018664	ectopia cordis	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.
http://purl.obolibrary.org/obo/MONDO_0018666	hepatoblastoma	http://purl.obolibrary.org/obo/MONDO_0007256	hepatocellular carcinoma		Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.
http://purl.obolibrary.org/obo/MONDO_0018667	pleural empyema	http://purl.obolibrary.org/obo/MONDO_0002037	pleural disorder		The presence of pus in the thoracic cavity, between the visceral and parietal pleura.
http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.
http://purl.obolibrary.org/obo/MONDO_0018683	acquired ichthyosis	http://purl.obolibrary.org/obo/MONDO_0019269	ichthyosis		Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications.
http://purl.obolibrary.org/obo/MONDO_0018687	progressive muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0004976	amyotrophic lateral sclerosis		A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.
http://purl.obolibrary.org/obo/MONDO_0018689	plasma cell leukemia	http://purl.obolibrary.org/obo/MONDO_0015759	B-cell non-Hodgkin lymphoma		An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.
http://purl.obolibrary.org/obo/MONDO_0018695	avian influenza	http://purl.obolibrary.org/obo/MONDO_0005812	influenza		Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.
http://purl.obolibrary.org/obo/MONDO_0018748	linear IgA Dermatosis	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).
http://purl.obolibrary.org/obo/MONDO_0018768	familial cold autoinflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0016168	cryopyrin-associated periodic syndrome		Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
http://purl.obolibrary.org/obo/MONDO_0018784	pediatric multiple sclerosis	http://purl.obolibrary.org/obo/MONDO_0005301	multiple sclerosis		Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.
http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).
http://purl.obolibrary.org/obo/MONDO_0018805	bile duct cyst	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		Cystic dilatation of the hepatic duct or bile duct.
http://purl.obolibrary.org/obo/MONDO_0018824	pyoderma gangrenosum	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.
http://purl.obolibrary.org/obo/MONDO_0018826	Lewis-Sumner syndrome	http://purl.obolibrary.org/obo/MONDO_0006702	chronic inflammatory demyelinating polyradiculoneuropathy		A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.
http://purl.obolibrary.org/obo/MONDO_0018829	familial schizencephaly	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of schizencephaly that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018830	Kimura disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.
http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.
http://purl.obolibrary.org/obo/MONDO_0018842	primary effusion lymphoma	http://purl.obolibrary.org/obo/MONDO_0015157	human herpesvirus 8-related tumor		A large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).
http://purl.obolibrary.org/obo/MONDO_0018844	urachal cyst	http://purl.obolibrary.org/obo/MONDO_0018565	congenital urachal anomaly		Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.
http://purl.obolibrary.org/obo/MONDO_0018846	penile agenesis	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018848	IgG4-related retroperitoneal fibrosis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.
http://purl.obolibrary.org/obo/MONDO_0018850	proliferating trichilemmal cyst	http://purl.obolibrary.org/obo/MONDO_0003413	hair follicle neoplasm		Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.
http://purl.obolibrary.org/obo/MONDO_0018852	achromatopsia	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
http://purl.obolibrary.org/obo/MONDO_0018855	keratosis pilaris atrophicans	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.
http://purl.obolibrary.org/obo/MONDO_0018858	Graham Little-Piccardi-Lassueur syndrome	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.
http://purl.obolibrary.org/obo/MONDO_0018864	Kikuchi-Fujimoto disease	http://purl.obolibrary.org/obo/MONDO_0002052	lymphadenitis		Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.
http://purl.obolibrary.org/obo/MONDO_0018866	Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
http://purl.obolibrary.org/obo/MONDO_0018868	metachromatic leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
http://purl.obolibrary.org/obo/MONDO_0018870	arterial calcification of infancy	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.
http://purl.obolibrary.org/obo/MONDO_0018871	acute myelomonocytic leukemia M4	http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification		An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0018872	acute megakaryoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification		Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0010643	acute leukemia		Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.
http://purl.obolibrary.org/obo/MONDO_0018875	Li-Fraumeni syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias.
http://purl.obolibrary.org/obo/MONDO_0018876	mantle cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017595	aggressive B-cell non-Hodgkin lymphoma		Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.
http://purl.obolibrary.org/obo/MONDO_0018878	branchiootic syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
http://purl.obolibrary.org/obo/MONDO_0018879	lichen planopilaris	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.
http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease.
http://purl.obolibrary.org/obo/MONDO_0018884	Roch-Leri mesosomatous lipomatosis	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.
http://purl.obolibrary.org/obo/MONDO_0018891	familial tumoral calcinosis	http://purl.obolibrary.org/obo/MONDO_0002123	calcinosis		Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.
http://purl.obolibrary.org/obo/MONDO_0018892	Wyburn-Mason syndrome	http://purl.obolibrary.org/obo/MONDO_0015405	cerebrofacial arteriovenous metameric syndrome		Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.
http://purl.obolibrary.org/obo/MONDO_0018893	Cobb syndrome	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.
http://purl.obolibrary.org/obo/MONDO_0018895	Plummer-Vinson syndrome	http://purl.obolibrary.org/obo/MONDO_0016625	acquired deficiency anemia		Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.
http://purl.obolibrary.org/obo/MONDO_0018896	thrombotic thrombocytopenic purpura	http://purl.obolibrary.org/obo/MONDO_0043768	thrombocytopenic purpura		Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.
http://purl.obolibrary.org/obo/MONDO_0018901	left ventricular noncompaction	http://purl.obolibrary.org/obo/MONDO_0005217	familial cardiomyopathy		Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.
http://purl.obolibrary.org/obo/MONDO_0018902	hepatocellular adenoma	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.
http://purl.obolibrary.org/obo/MONDO_0018903	sarcocystosis	http://purl.obolibrary.org/obo/MONDO_0005707	coccidiosis		Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism.
http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017595	aggressive B-cell non-Hodgkin lymphoma		Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.
http://purl.obolibrary.org/obo/MONDO_0018906	follicular lymphoma	http://purl.obolibrary.org/obo/MONDO_0017594	indolent B-cell non-Hodgkin lymphoma		Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.
http://purl.obolibrary.org/obo/MONDO_0018907	craniopharyngioma	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.
http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young	http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis		MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
http://purl.obolibrary.org/obo/MONDO_0018912	Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.
http://purl.obolibrary.org/obo/MONDO_0018913	malakoplakia	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.
http://purl.obolibrary.org/obo/MONDO_0018914	hypotrichosis simplex	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.
http://purl.obolibrary.org/obo/MONDO_0018921	Meckel syndrome	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
http://purl.obolibrary.org/obo/MONDO_0018927	SUNCT syndrome	http://purl.obolibrary.org/obo/MONDO_0015530	trigeminal autonomic cephalalgia		SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).
http://purl.obolibrary.org/obo/MONDO_0018930	monosomy 21	http://purl.obolibrary.org/obo/MONDO_0700124	chromosome 21 disorder		Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0018936	osteoblastoma	http://purl.obolibrary.org/obo/MONDO_0000631	bone benign neoplasm		A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.
http://purl.obolibrary.org/obo/MONDO_0018937	mucopolysaccharidosis type 3	http://purl.obolibrary.org/obo/MONDO_0019249	mucopolysaccharidosis		A lysosomal disease characterized by progressive neurocognitive decline, severe  intellectual deterioration, loss of functional abilities, and premature death.
http://purl.obolibrary.org/obo/MONDO_0018939	muscle-eye-brain disease	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.
http://purl.obolibrary.org/obo/MONDO_0018940	congenital myasthenic syndrome	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
http://purl.obolibrary.org/obo/MONDO_0018941	furuncular myiasis	http://purl.obolibrary.org/obo/MONDO_0020568	cutaneous myiasis		Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).
http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy	http://purl.obolibrary.org/obo/MONDO_0002921	congenital structural myopathy		Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.
http://purl.obolibrary.org/obo/MONDO_0018944	gestational trophoblastic neoplasm	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.
http://purl.obolibrary.org/obo/MONDO_0018945	XK-related neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0016987	neuroacanthocytosis		A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.
http://purl.obolibrary.org/obo/MONDO_0018947	centronuclear myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
http://purl.obolibrary.org/obo/MONDO_0018950	3-methylcrotonyl-CoA carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0019215	classic organic aciduria		3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
http://purl.obolibrary.org/obo/MONDO_0018952	argyria	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).
http://purl.obolibrary.org/obo/MONDO_0018953	parietal foramina	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.
http://purl.obolibrary.org/obo/MONDO_0018954	Loeys-Dietz syndrome	http://purl.obolibrary.org/obo/MONDO_0017310	Marfan and Marfan-related disorder		Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.
http://purl.obolibrary.org/obo/MONDO_0018955	recurrent respiratory papillomatosis	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive.
http://purl.obolibrary.org/obo/MONDO_0018957	pudendal neuralgia	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.
http://purl.obolibrary.org/obo/MONDO_0018958	nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0002921	congenital structural myopathy		Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
http://purl.obolibrary.org/obo/MONDO_0018961	familial melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.
http://purl.obolibrary.org/obo/MONDO_0018963	hereditary methemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.
http://purl.obolibrary.org/obo/MONDO_0018965	Alport syndrome	http://purl.obolibrary.org/obo/MONDO_0005334	hereditary nephritis		A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.
http://purl.obolibrary.org/obo/MONDO_0018968	iniencephaly	http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect		Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0018975	neurofibromatosis type 1	http://purl.obolibrary.org/obo/MONDO_0021060	RASopathy		A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
http://purl.obolibrary.org/obo/MONDO_0018976	schisis association	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.
http://purl.obolibrary.org/obo/MONDO_0018979	multifocal motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.
http://purl.obolibrary.org/obo/MONDO_0018983	Tolosa-Hunt syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others.
http://purl.obolibrary.org/obo/MONDO_0018987	granulomatous mastitis	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.
http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
http://purl.obolibrary.org/obo/MONDO_0018994	Charcot-Marie-Tooth disease type X	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.
http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
http://purl.obolibrary.org/obo/MONDO_0019000	perineural cyst	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.
http://purl.obolibrary.org/obo/MONDO_0019003	multiple endocrine neoplasia type 2	http://purl.obolibrary.org/obo/MONDO_0017169	multiple endocrine neoplasia		Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).
http://purl.obolibrary.org/obo/MONDO_0019004	kidney Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0006058	Wilms tumor		An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.
http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
http://purl.obolibrary.org/obo/MONDO_0019008	benign recurrent intrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0017290	familial intrahepatic cholestasis		Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).
http://purl.obolibrary.org/obo/MONDO_0019011	Charcot-Marie-Tooth disease type 1	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.
http://purl.obolibrary.org/obo/MONDO_0019012	Carpenter syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.
http://purl.obolibrary.org/obo/MONDO_0019015	omphalocele	http://purl.obolibrary.org/obo/MONDO_0100298	abdominal wall malformation		Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.
http://purl.obolibrary.org/obo/MONDO_0019018	Tako-tsubo cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy		Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.
http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
http://purl.obolibrary.org/obo/MONDO_0019023	cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0007950	mastocytosis		Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.
http://purl.obolibrary.org/obo/MONDO_0019024	mast cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0007950	mastocytosis		A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0019025	extracutaneous mastocytoma	http://purl.obolibrary.org/obo/MONDO_0003079	mastocytoma		A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003
http://purl.obolibrary.org/obo/MONDO_0019028	amoebiasis due to Entamoeba histolytica	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.
http://purl.obolibrary.org/obo/MONDO_0019034	accessory pancreas	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.
http://purl.obolibrary.org/obo/MONDO_0019035	pancreatoblastoma	http://purl.obolibrary.org/obo/MONDO_0002116	malignant exocrine pancreas neoplasm		Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.
http://purl.obolibrary.org/obo/MONDO_0019036	amoebiasis due to free-living amoebae	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.
http://purl.obolibrary.org/obo/MONDO_0019037	progressive supranuclear palsy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.
http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.
http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy	http://purl.obolibrary.org/obo/MONDO_0044348	hemoglobinopathy		An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.
http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
http://purl.obolibrary.org/obo/MONDO_0019053	peroxisomal disease	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.
http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.
http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis	http://purl.obolibrary.org/obo/MONDO_0021179	proteostasis deficiencies		A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.
http://purl.obolibrary.org/obo/MONDO_0019072	intrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0001751	cholestasis		A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.
http://purl.obolibrary.org/obo/MONDO_0019078	Ritscher-Schinzel syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
http://purl.obolibrary.org/obo/MONDO_0019079	proximal spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
http://purl.obolibrary.org/obo/MONDO_0019080	alopecia totalis	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.
http://purl.obolibrary.org/obo/MONDO_0019085	vernal keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.
http://purl.obolibrary.org/obo/MONDO_0019087	cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018536	adenocarcinoma of gallbladder and extrahepatic biliary tract		A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.
http://purl.obolibrary.org/obo/MONDO_0019088	post-transplant lymphoproliferative disease	http://purl.obolibrary.org/obo/MONDO_0700220	disease related to transplantation		Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0019091	bronchopulmonary dysplasia	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.
http://purl.obolibrary.org/obo/MONDO_0019095	plague	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.
http://purl.obolibrary.org/obo/MONDO_0019100	neuromyelitis optica	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.
http://purl.obolibrary.org/obo/MONDO_0019104	Sandifer syndrome	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.
http://purl.obolibrary.org/obo/MONDO_0019105	renal nutcracker syndrome	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.
http://purl.obolibrary.org/obo/MONDO_0019107	Rh deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia		The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.
http://purl.obolibrary.org/obo/MONDO_0019109	CANOMAD syndrome	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.
http://purl.obolibrary.org/obo/MONDO_0019112	cancer-associated retinopathy	http://purl.obolibrary.org/obo/MONDO_0018215	paraneoplastic neurologic syndrome		Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.
http://purl.obolibrary.org/obo/MONDO_0019121	pneumocystosis	http://purl.obolibrary.org/obo/MONDO_0005923	Pneumocystis infectious disease		Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localized to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.
http://purl.obolibrary.org/obo/MONDO_0019124	microscopic polyangiitis	http://purl.obolibrary.org/obo/MONDO_0015492	anti-neutrophil cytoplasmic antibody-associated vasculitis		Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.
http://purl.obolibrary.org/obo/MONDO_0019125	relapsing polychondritis	http://purl.obolibrary.org/obo/MONDO_0002342	chondromalacia		A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.
http://purl.obolibrary.org/obo/MONDO_0019134	central neurocytoma	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.
http://purl.obolibrary.org/obo/MONDO_0019136	Zygomycosis	http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis		Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue.
http://purl.obolibrary.org/obo/MONDO_0019139	acquired hemophilia	http://purl.obolibrary.org/obo/MONDO_0020599	acquired coagulation factor deficiency		Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.
http://purl.obolibrary.org/obo/MONDO_0019140	acute ackee fruit intoxication	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.
http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria	http://purl.obolibrary.org/obo/MONDO_0037939	porphyria		Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.
http://purl.obolibrary.org/obo/MONDO_0019143	angiostrongyliasis	http://purl.obolibrary.org/obo/MONDO_0004664	helminthiasis		A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.
http://purl.obolibrary.org/obo/MONDO_0019145	hereditary thrombophilia due to congenital protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
http://purl.obolibrary.org/obo/MONDO_0019147	myiasis	http://purl.obolibrary.org/obo/MONDO_0002875	parasitic ectoparasitic infectious disease		The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.
http://purl.obolibrary.org/obo/MONDO_0019148	Wolman disease	http://purl.obolibrary.org/obo/MONDO_0800449	lysosomal acid lipase deficiency		Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.
http://purl.obolibrary.org/obo/MONDO_0019152	Oguchi disease	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.
http://purl.obolibrary.org/obo/MONDO_0019159	Loeffler endocarditis	http://purl.obolibrary.org/obo/MONDO_0016345	non-familial restrictive cardiomyopathy		Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.
http://purl.obolibrary.org/obo/MONDO_0019165	central precocious puberty	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).
http://purl.obolibrary.org/obo/MONDO_0019168	pyomyositis	http://purl.obolibrary.org/obo/MONDO_0016127	bacterial myositis		Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.
http://purl.obolibrary.org/obo/MONDO_0019170	polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0043494	arteritis		Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.
http://purl.obolibrary.org/obo/MONDO_0019172	aniridia	http://purl.obolibrary.org/obo/MONDO_0002289	iris disorder		Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).
http://purl.obolibrary.org/obo/MONDO_0019173	rabies	http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system		Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.
http://purl.obolibrary.org/obo/MONDO_0019179	monosomy 9q22.3	http://purl.obolibrary.org/obo/MONDO_0016908	partial monosomy of the long arm of chromosome 9		Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
http://purl.obolibrary.org/obo/MONDO_0019180	hereditary hemorrhagic telangiectasia	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100284	X-linked intellectual disability		Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.
http://purl.obolibrary.org/obo/MONDO_0019186	Q fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.
http://purl.obolibrary.org/obo/MONDO_0019187	Axenfeld-Rieger syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
http://purl.obolibrary.org/obo/MONDO_0019188	Rubinstein-Taybi syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.
http://purl.obolibrary.org/obo/MONDO_0019191	IgG4-related dacryoadenitis and sialadenitis	http://purl.obolibrary.org/obo/MONDO_0018675	IgG4-related ophthalmic disorder		IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.
http://purl.obolibrary.org/obo/MONDO_0019193	acquired generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0027766	generalized lipodystrophy		Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).
http://purl.obolibrary.org/obo/MONDO_0019194	localized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0006573	lipodystrophy		Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body.
http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
http://purl.obolibrary.org/obo/MONDO_0019201	thyrotoxic periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0000995	familial periodic paralysis		Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
http://purl.obolibrary.org/obo/MONDO_0019203	acute interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.
http://purl.obolibrary.org/obo/MONDO_0019209	Japanese encephalitis	http://purl.obolibrary.org/obo/MONDO_0020601	mosquito-borne viral encephalitis		A disease due to a virus transmitted by an arthropod).
http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019242	inborn disorder of branched-chain amino acid metabolism	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019243	inborn disorder of energy metabolism	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.
http://purl.obolibrary.org/obo/MONDO_0019245	lysosomal lipid storage disorder	http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease		An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
http://purl.obolibrary.org/obo/MONDO_0019248	mucolipidosis	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
http://purl.obolibrary.org/obo/MONDO_0019249	mucopolysaccharidosis	http://purl.obolibrary.org/obo/MONDO_0100365	mucopolysaccharidosis or mucopolysaccharidosis-like disorder		A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
http://purl.obolibrary.org/obo/MONDO_0019255	sphingolipidosis	http://purl.obolibrary.org/obo/MONDO_0019245	lysosomal lipid storage disorder		An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.
http://purl.obolibrary.org/obo/MONDO_0019257	hemochromatosis type 2	http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis		Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
http://purl.obolibrary.org/obo/MONDO_0019258	mild phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0009861	phenylketonuria		Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.
http://purl.obolibrary.org/obo/MONDO_0019260	adult neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.
http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.
http://purl.obolibrary.org/obo/MONDO_0019266	SAPHO syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.
http://purl.obolibrary.org/obo/MONDO_0019269	ichthyosis	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.
http://purl.obolibrary.org/obo/MONDO_0019280	hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0002917	disorder of pilosebaceous unit		Excessive hair growth anywhere on the body.
http://purl.obolibrary.org/obo/MONDO_0019297	lymphedema	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0019303	premature aging syndrome	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		Changes in the organism associated with senescence, occurring at an accelerated rate.
http://purl.obolibrary.org/obo/MONDO_0019307	generalized junctional epidermolysis bullosa non-Herlitz type	http://purl.obolibrary.org/obo/MONDO_0009180	junctional epidermolysis bullosa, non-Herlitz type		Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
http://purl.obolibrary.org/obo/MONDO_0019309	late-onset junctional epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.
http://purl.obolibrary.org/obo/MONDO_0019312	Hermansky-Pudlak syndrome	http://purl.obolibrary.org/obo/MONDO_0017739	disorder of lysosomal-related organelles		Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.
http://purl.obolibrary.org/obo/MONDO_0019315	diffuse cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0019023	cutaneous mastocytosis		Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).
http://purl.obolibrary.org/obo/MONDO_0019316	maculopapular cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0019023	cutaneous mastocytosis		Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.
http://purl.obolibrary.org/obo/MONDO_0019321	atypical Werner syndrome	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.
http://purl.obolibrary.org/obo/MONDO_0019324	pemphigus foliaceus	http://purl.obolibrary.org/obo/MONDO_0006594	pemphigus		Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.
http://purl.obolibrary.org/obo/MONDO_0019330	pili gemini	http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly		Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.
http://purl.obolibrary.org/obo/MONDO_0019338	sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.
http://purl.obolibrary.org/obo/MONDO_0019339	47,XYY syndrome	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
http://purl.obolibrary.org/obo/MONDO_0019342	Seckel syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
http://purl.obolibrary.org/obo/MONDO_0019344	antisynthetase syndrome	http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy		Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).
http://purl.obolibrary.org/obo/MONDO_0019345	shigellosis	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.
http://purl.obolibrary.org/obo/MONDO_0019347	peeling skin syndrome	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.
http://purl.obolibrary.org/obo/MONDO_0019349	Sotos syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0019350	hereditary spherocytosis	http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia		Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
http://purl.obolibrary.org/obo/MONDO_0019353	Stargardt disease	http://purl.obolibrary.org/obo/MONDO_0003004	macular degeneration		Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.
http://purl.obolibrary.org/obo/MONDO_0019354	Stickler syndrome	http://purl.obolibrary.org/obo/MONDO_0020248	vitreoretinal degeneration		Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).
http://purl.obolibrary.org/obo/MONDO_0019359	Rocky mountain spotted fever	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline).
http://purl.obolibrary.org/obo/MONDO_0019362	epidemic louse-borne typhus	http://purl.obolibrary.org/obo/MONDO_0001246	typhus		A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis.
http://purl.obolibrary.org/obo/MONDO_0019365	scrub typhus	http://purl.obolibrary.org/obo/MONDO_0600003	bacterial hemorrhagic fever		Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.
http://purl.obolibrary.org/obo/MONDO_0019366	free sialic acid storage disease	http://purl.obolibrary.org/obo/MONDO_0019246	inborn disorder of lysosomal amino acid transport		Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).
http://purl.obolibrary.org/obo/MONDO_0019367	regional odontodysplasia	http://purl.obolibrary.org/obo/MONDO_0002635	periodontal disorder		Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.
http://purl.obolibrary.org/obo/MONDO_0019368	florid cemento-osseous dysplasia	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.
http://purl.obolibrary.org/obo/MONDO_0019369	complex regional pain syndrome	http://purl.obolibrary.org/obo/MONDO_0024317	chronic pain syndrome		A chronic pain syndrome characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.
http://purl.obolibrary.org/obo/MONDO_0019371	narcolepsy without cataplexy	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.
http://purl.obolibrary.org/obo/MONDO_0019373	desmoplastic small round cell tumor	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.
http://purl.obolibrary.org/obo/MONDO_0019375	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	http://purl.obolibrary.org/obo/MONDO_1040002	PIK3CA-related overgrowth spectrum		Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
http://purl.obolibrary.org/obo/MONDO_0019378	la Crosse encephalitis	http://purl.obolibrary.org/obo/MONDO_0021641	Bunyaviridae infectious disease		La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.
http://purl.obolibrary.org/obo/MONDO_0019380	western equine encephalitis	http://purl.obolibrary.org/obo/MONDO_0005643	Alphavirus infectious disease		An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.
http://purl.obolibrary.org/obo/MONDO_0019383	acute disseminated encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0020068	postinfectious encephalitis		Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0019385	steroid-responsive encephalopathy associated with autoimmune thyroiditis	http://purl.obolibrary.org/obo/MONDO_0020068	postinfectious encephalitis		Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.
http://purl.obolibrary.org/obo/MONDO_0019390	Susac syndrome	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.
http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
http://purl.obolibrary.org/obo/MONDO_0019402	beta thalassemia	http://purl.obolibrary.org/obo/MONDO_0017145	beta-thalassemia and related diseases		Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).
http://purl.obolibrary.org/obo/MONDO_0019403	congenital dyserythropoietic anemia	http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia		Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.
http://purl.obolibrary.org/obo/MONDO_0019404	perineurioma	http://purl.obolibrary.org/obo/MONDO_0016749	tumor of cranial and spinal nerves		A usually benign perineurioma not associated with a nerve, arising from the soft tissues.
http://purl.obolibrary.org/obo/MONDO_0019405	facial onset sensory and motor neuronopathy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.
http://purl.obolibrary.org/obo/MONDO_0019408	Astley-Kendall dysplasia	http://purl.obolibrary.org/obo/MONDO_0019701	chondrodysplasia punctata		Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.
http://purl.obolibrary.org/obo/MONDO_0019409	idiopathic juvenile osteoporosis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.
http://purl.obolibrary.org/obo/MONDO_0019414	BRESEK syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).
http://purl.obolibrary.org/obo/MONDO_0019415	fetal and neonatal alloimmune thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns.
http://purl.obolibrary.org/obo/MONDO_0019433	oligoarticular juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0011429	juvenile idiopathic arthritis		Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.
http://purl.obolibrary.org/obo/MONDO_0019434	systemic-onset juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.
http://purl.obolibrary.org/obo/MONDO_0019437	enthesitis-related juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0011429	juvenile idiopathic arthritis		Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
http://purl.obolibrary.org/obo/MONDO_0019438	AL amyloidosis	http://purl.obolibrary.org/obo/MONDO_0016330	non-familial hypertrophic cardiomyopathy		AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.
http://purl.obolibrary.org/obo/MONDO_0019439	AA amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.
http://purl.obolibrary.org/obo/MONDO_0019443	dextro-looped transposition of the great arteries	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.
http://purl.obolibrary.org/obo/MONDO_0019445	trichofolliculoma	http://purl.obolibrary.org/obo/MONDO_0021539	hamartoma of skin appendage		Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.
http://purl.obolibrary.org/obo/MONDO_0019451	chronic neutrophilic leukemia	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.
http://purl.obolibrary.org/obo/MONDO_0019454	myelodysplastic syndrome with excess blasts	http://purl.obolibrary.org/obo/MONDO_0044881	hematopoietic and lymphoid cell neoplasm		A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2.
http://purl.obolibrary.org/obo/MONDO_0019455	acute panmyelosis with myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification		An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.
http://purl.obolibrary.org/obo/MONDO_0019457	therapy related acute myeloid leukemia and myelodysplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0019458	acute basophilic leukemia	http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification		A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.
http://purl.obolibrary.org/obo/MONDO_0019462	splenic marginal zone lymphoma	http://purl.obolibrary.org/obo/MONDO_0017604	marginal zone lymphoma		Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.
http://purl.obolibrary.org/obo/MONDO_0019464	heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0004959	plasma cell neoplasm		Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.
http://purl.obolibrary.org/obo/MONDO_0019466	lymphomatoid granulomatosis	http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder		A very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.
http://purl.obolibrary.org/obo/MONDO_0019469	T-cell large granular lymphocyte leukemia	http://purl.obolibrary.org/obo/MONDO_0005402	lymphoid leukemia		T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.
http://purl.obolibrary.org/obo/MONDO_0019470	aggressive NK-cell leukemia	http://purl.obolibrary.org/obo/MONDO_0004963	T-cell acute lymphoblastic leukemia		A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.
http://purl.obolibrary.org/obo/MONDO_0019473	enteropathy-associated T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015760	T-cell non-Hodgkin lymphoma		An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease.
http://purl.obolibrary.org/obo/MONDO_0019480	Langerhans cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0004380	dendritic cell sarcoma		A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0019490	progressive familial heart block	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.
http://purl.obolibrary.org/obo/MONDO_0019496	neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0002082	endocrine gland neoplasm		Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion).
http://purl.obolibrary.org/obo/MONDO_0019497	nonsyndromic genetic hearing loss	http://purl.obolibrary.org/obo/MONDO_0037940	inherited auditory system disease		A disease characterized by hearing loss that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0019498	tungiasis	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		An disease or disorder caused by infection with Tunga penetrans.
http://purl.obolibrary.org/obo/MONDO_0019499	Turner syndrome	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.
http://purl.obolibrary.org/obo/MONDO_0019501	Usher syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.
http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100597	intellectual disability, autosomal recessive		Autosomal recessive form of non-syndromic intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0019503	anterior segment dysgenesis	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).
http://purl.obolibrary.org/obo/MONDO_0019504	superior limbic keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0004768	keratoconjunctivitis		A chronic and recurrent eye disease which affects the superior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause of SLK remains unknown, it is believed that the condition is secondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.
http://purl.obolibrary.org/obo/MONDO_0019507	amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0004038	dental enamel hypoplasia		Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.
http://purl.obolibrary.org/obo/MONDO_0019508	van der Woude syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.
http://purl.obolibrary.org/obo/MONDO_0019514	hepatic veno-occlusive disease	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.
http://purl.obolibrary.org/obo/MONDO_0019516	exudative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0020248	vitreoretinal degeneration		Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
http://purl.obolibrary.org/obo/MONDO_0019517	Waardenburg syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0018094	Waardenburg syndrome		Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
http://purl.obolibrary.org/obo/MONDO_0019522	recessive dystrophic epidermolysis bullosa-generalized other	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
http://purl.obolibrary.org/obo/MONDO_0019525	tetrasomy X	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).
http://purl.obolibrary.org/obo/MONDO_0019526	erythema elevatum diutinum	http://purl.obolibrary.org/obo/MONDO_0015491	immune complex mediated vasculitis		Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.
http://purl.obolibrary.org/obo/MONDO_0019530	non-syndromic syndactyly	http://purl.obolibrary.org/obo/MONDO_0021002	syndactyly		A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.
http://purl.obolibrary.org/obo/MONDO_0019537	hemoglobin D disease	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).
http://purl.obolibrary.org/obo/MONDO_0019538	Gaisbock syndrome	http://purl.obolibrary.org/obo/MONDO_0016541	acquired secondary polycythemia		Polycythemia that is caused by stress.
http://purl.obolibrary.org/obo/MONDO_0019542	acute liver failure	http://purl.obolibrary.org/obo/MONDO_0100192	liver failure		Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.
http://purl.obolibrary.org/obo/MONDO_0019547	Wells syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia.
http://purl.obolibrary.org/obo/MONDO_0019557	chilblain lupus	http://purl.obolibrary.org/obo/MONDO_0015574	chronic cutaneous lupus erythematosus		A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.
http://purl.obolibrary.org/obo/MONDO_0019560	lupus erythematosus tumidus	http://purl.obolibrary.org/obo/MONDO_0015574	chronic cutaneous lupus erythematosus		Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.
http://purl.obolibrary.org/obo/MONDO_0019561	lupus erythematosus panniculitis	http://purl.obolibrary.org/obo/MONDO_0015574	chronic cutaneous lupus erythematosus		A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.
http://purl.obolibrary.org/obo/MONDO_0019563	CREST syndrome	http://purl.obolibrary.org/obo/MONDO_0016358	limited cutaneous systemic sclerosis		CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.
http://purl.obolibrary.org/obo/MONDO_0019565	hereditary von Willebrand disease	http://purl.obolibrary.org/obo/MONDO_0024574	von Willebrand disease (hereditary or acquired)		Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).
http://purl.obolibrary.org/obo/MONDO_0019567	Ehlers-Danlos syndrome, classic type, 1	http://purl.obolibrary.org/obo/MONDO_0007522	Ehlers-Danlos syndrome, classic type		Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.
http://purl.obolibrary.org/obo/MONDO_0019571	autosomal dominant cutis laxa	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.
http://purl.obolibrary.org/obo/MONDO_0019586	X-linked nonsyndromic hearing loss	http://purl.obolibrary.org/obo/MONDO_0020768	X-linked deafness		X-linked form of nonsyndromic deafness.
http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss	http://purl.obolibrary.org/obo/MONDO_0019497	nonsyndromic genetic hearing loss		Autosomal dominant form of nonsyndromic deafness.
http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019497	nonsyndromic genetic hearing loss		Autosomal recessive form of nonsyndromic deafness.
http://purl.obolibrary.org/obo/MONDO_0019591	panhypopituitarism	http://purl.obolibrary.org/obo/MONDO_0013099	combined pituitary hormone deficiencies, genetic form		Insufficient production of all the anterior pituitary hormones.
http://purl.obolibrary.org/obo/MONDO_0019600	xeroderma pigmentosum	http://purl.obolibrary.org/obo/MONDO_0015951	hereditary photodermatosis		Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).
http://purl.obolibrary.org/obo/MONDO_0019605	immunotactoid or fibrillary glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019722	glomerular disorder		A group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.
http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
http://purl.obolibrary.org/obo/MONDO_0019618	Sheehan syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.
http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.
http://purl.obolibrary.org/obo/MONDO_0019624	acquired angioedema	http://purl.obolibrary.org/obo/MONDO_0010481	angioedema		Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.
http://purl.obolibrary.org/obo/MONDO_0019629	sclerocornea	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
http://purl.obolibrary.org/obo/MONDO_0019631	persistent hyperplastic primary vitreous	http://purl.obolibrary.org/obo/MONDO_0020247	congenital vitreoretinal dysplasia		A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)
http://purl.obolibrary.org/obo/MONDO_0019632	Lyme disease	http://purl.obolibrary.org/obo/MONDO_0021839	spirochaetales infections		Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.
http://purl.obolibrary.org/obo/MONDO_0019633	relapsing fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.
http://purl.obolibrary.org/obo/MONDO_0019634	familial nasal acilia	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.
http://purl.obolibrary.org/obo/MONDO_0019648	achondrogenesis	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.
http://purl.obolibrary.org/obo/MONDO_0019665	monostotic fibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0000845	fibrous dysplasia		Fibrous dysplasia of bone involving only one bone.
http://purl.obolibrary.org/obo/MONDO_0019675	spondyloepimetaphyseal dysplasia with joint laxity	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.
http://purl.obolibrary.org/obo/MONDO_0019678	brachydactyly type A5	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.
http://purl.obolibrary.org/obo/MONDO_0019679	brachydactyly type A7	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.
http://purl.obolibrary.org/obo/MONDO_0019696	acromesomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type
http://purl.obolibrary.org/obo/MONDO_0019701	chondrodysplasia punctata	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
http://purl.obolibrary.org/obo/MONDO_0019719	congenital anomaly of kidney and urinary tract	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.
http://purl.obolibrary.org/obo/MONDO_0019730	light chain deposition disease	http://purl.obolibrary.org/obo/MONDO_0019463	non-amyloid monoclonal immunoglobulin deposition disease		Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.
http://purl.obolibrary.org/obo/MONDO_0019734	juvenile polymyositis	http://purl.obolibrary.org/obo/MONDO_0019127	polymyositis		An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.
http://purl.obolibrary.org/obo/MONDO_0019735	polymyalgia rheumatica	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression.
http://purl.obolibrary.org/obo/MONDO_0019737	thrombotic microangiopathy	http://purl.obolibrary.org/obo/MONDO_0001531	blood coagulation disease		The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.
http://purl.obolibrary.org/obo/MONDO_0019740	acquired thrombotic thrombocytopenic purpura	http://purl.obolibrary.org/obo/MONDO_0018896	thrombotic thrombocytopenic purpura		Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
http://purl.obolibrary.org/obo/MONDO_0019759	epispadias	http://purl.obolibrary.org/obo/MONDO_0017919	exstrophy-epispadias complex		Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.
http://purl.obolibrary.org/obo/MONDO_0019771	oromandibular dystonia	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.
http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele	http://purl.obolibrary.org/obo/MONDO_0017069	spina bifida cystica		Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.
http://purl.obolibrary.org/obo/MONDO_0019781	astrocytoma (excluding glioblastoma)	http://purl.obolibrary.org/obo/MONDO_0021636	astrocytic tumor		A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.
http://purl.obolibrary.org/obo/MONDO_0019783	neovascular glaucoma	http://purl.obolibrary.org/obo/MONDO_0001744	angle-closure glaucoma		Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.
http://purl.obolibrary.org/obo/MONDO_0019784	12q14 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016877	partial deletion of the long arm of chromosome 12		12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.
http://purl.obolibrary.org/obo/MONDO_0019787	autoimmune enteropathy	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.
http://purl.obolibrary.org/obo/MONDO_0019790	neuroleptic malignant syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.
http://purl.obolibrary.org/obo/MONDO_0019795	acalvaria	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.
http://purl.obolibrary.org/obo/MONDO_0019796	acrocephalosyndactyly	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.
http://purl.obolibrary.org/obo/MONDO_0019797	acrodysostosis	http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia		Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0019799	hepatoerythropoietic porphyria	http://purl.obolibrary.org/obo/MONDO_0100498	UROD-related inherited porphyria		A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.
http://purl.obolibrary.org/obo/MONDO_0019803	angioma serpiginosum	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Angioma serpiginosum (AS) is a benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.
http://purl.obolibrary.org/obo/MONDO_0019804	congenital tracheomalacia	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.
http://purl.obolibrary.org/obo/MONDO_0019810	toxic epidermal necrolysis	http://purl.obolibrary.org/obo/MONDO_0017396	toxic dermatosis		Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.
http://purl.obolibrary.org/obo/MONDO_0019828	pituitary stalk interruption syndrome	http://purl.obolibrary.org/obo/MONDO_0019824	non-acquired pituitary hormone deficiency		Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.
http://purl.obolibrary.org/obo/MONDO_0019835	lymphocytic hypophysitis	http://purl.obolibrary.org/obo/MONDO_0000569	autoimmune disorder of endocrine system		An autoimmune condition affecting the pituitary gland, characterized by lymphocytic infiltration, commonly presenting with pituitary hormone deficiencies.
http://purl.obolibrary.org/obo/MONDO_0019862	levocardia	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.
http://purl.obolibrary.org/obo/MONDO_0019864	tetrasomy 21	http://purl.obolibrary.org/obo/MONDO_0700124	chromosome 21 disorder		Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.
http://purl.obolibrary.org/obo/MONDO_0019867	mosaic trisomy 8	http://purl.obolibrary.org/obo/MONDO_0043452	chromosome 8, trisomy		Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
http://purl.obolibrary.org/obo/MONDO_0019869	mosaic trisomy 22	http://purl.obolibrary.org/obo/MONDO_0022759	trisomy 22		Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.
http://purl.obolibrary.org/obo/MONDO_0019881	distal trisomy 6q	http://purl.obolibrary.org/obo/MONDO_0016957	partial duplication of the long arm of chromosome 6		Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.
http://purl.obolibrary.org/obo/MONDO_0019884	distal trisomy 10q	http://purl.obolibrary.org/obo/MONDO_0016961	partial duplication of the long arm of chromosome 10		Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.
http://purl.obolibrary.org/obo/MONDO_0019885	distal trisomy 11q	http://purl.obolibrary.org/obo/MONDO_0022173	chromosome 11q trisomy		Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.
http://purl.obolibrary.org/obo/MONDO_0019903	ring chromosome 2	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).
http://purl.obolibrary.org/obo/MONDO_0019904	ring chromosome 3	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.
http://purl.obolibrary.org/obo/MONDO_0019905	ring chromosome 9	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.
http://purl.obolibrary.org/obo/MONDO_0019906	ring chromosome 11	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.
http://purl.obolibrary.org/obo/MONDO_0019907	ring chromosome 13	http://purl.obolibrary.org/obo/MONDO_0700020	chromosome 13 disorder		Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.
http://purl.obolibrary.org/obo/MONDO_0019908	ring chromosome 15	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.
http://purl.obolibrary.org/obo/MONDO_0019909	ring chromosome 16	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.
http://purl.obolibrary.org/obo/MONDO_0019928	48,XXXY syndrome	http://purl.obolibrary.org/obo/MONDO_0700027	chromosome X disorder		The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.
http://purl.obolibrary.org/obo/MONDO_0019929	49,XXXXY syndrome	http://purl.obolibrary.org/obo/MONDO_0700085	pentasomy		The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.
http://purl.obolibrary.org/obo/MONDO_0019933	acromegaly	http://purl.obolibrary.org/obo/MONDO_0006793	hyperpituitarism		Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
http://purl.obolibrary.org/obo/MONDO_0019934	polyploidy	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0015225	arthrogryposis syndrome		A muscle tissue disease characterized by congenital joint contractures of hand and feet.
http://purl.obolibrary.org/obo/MONDO_0019944	Eisenmenger syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.
http://purl.obolibrary.org/obo/MONDO_0019947	rippling muscle disease 2	http://purl.obolibrary.org/obo/MONDO_0020704	inherited rippling muscle disease		An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.
http://purl.obolibrary.org/obo/MONDO_0019948	reducing body myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers.
http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
http://purl.obolibrary.org/obo/MONDO_0019956	encephalitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.
http://purl.obolibrary.org/obo/MONDO_0019959	glucagonoma	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.
http://purl.obolibrary.org/obo/MONDO_0019960	VIPoma	http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor		VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).
http://purl.obolibrary.org/obo/MONDO_0019962	thyroid lymphoma	http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma		A lymphoma primarily involving the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0019975	pellagra	http://purl.obolibrary.org/obo/MONDO_0006873	nutritional deficiency disease		Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.
http://purl.obolibrary.org/obo/MONDO_0019976	dementia pugilistica	http://purl.obolibrary.org/obo/MONDO_0001627	dementia		Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.
http://purl.obolibrary.org/obo/MONDO_0019978	Robinow syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
http://purl.obolibrary.org/obo/MONDO_0019991	immunotactoid glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019605	immunotactoid or fibrillary glomerulopathy		Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.
http://purl.obolibrary.org/obo/MONDO_0019992	pseudohypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).
http://purl.obolibrary.org/obo/MONDO_0019995	peripheral resistance to thyroid hormones	http://purl.obolibrary.org/obo/MONDO_0016412	peripheral hypothyroidism		Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development	http://purl.obolibrary.org/obo/MONDO_0002145	disorder of sexual differentiation		Differences of sex development in individuals with 46,XY karyotype.
http://purl.obolibrary.org/obo/MONDO_0020048	internal carotid agenesis	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography.
http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
http://purl.obolibrary.org/obo/MONDO_0020067	infectious encephalitis	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.
http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy	http://purl.obolibrary.org/obo/MONDO_0800495	variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration		A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.
http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm	http://purl.obolibrary.org/obo/MONDO_0015756	myeloid hemopathy		A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)
http://purl.obolibrary.org/obo/MONDO_0020082	dendritic cell tumor	http://purl.obolibrary.org/obo/MONDO_0006247	histiocytic and dendritic cell neoplasm		A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). The symptoms and severity of the condition depend on the subtype and location of the tumor.
http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0027767	partial lipodystrophy		Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.
http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.
http://purl.obolibrary.org/obo/MONDO_0020124	neuromuscular junction disease	http://purl.obolibrary.org/obo/MONDO_0021017	synaptopathy		Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0020128	motor neuron disorder	http://purl.obolibrary.org/obo/MONDO_0019056	neuromuscular disease		Neurological disease involving the motor neuron.
http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Macular dystrophy that is related to a change in a gene.
http://purl.obolibrary.org/obo/MONDO_0020283	uveitis	http://purl.obolibrary.org/obo/MONDO_0002661	uveal disorder		An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.
http://purl.obolibrary.org/obo/MONDO_0020290	familial atrioventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.
http://purl.obolibrary.org/obo/MONDO_0020291	hypoplastic right heart syndrome	http://purl.obolibrary.org/obo/MONDO_0019820	univentricular cardiopathy		Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0020310	familial focal epilepsy with variable foci	http://purl.obolibrary.org/obo/MONDO_0800492	variable-age onset focal epilepsy syndrome		Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.
http://purl.obolibrary.org/obo/MONDO_0020311	chronic myelomonocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0006311	myelodysplastic/myeloproliferative neoplasm		A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.
http://purl.obolibrary.org/obo/MONDO_0020316	acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.
http://purl.obolibrary.org/obo/MONDO_0020320	acute myeloblastic leukemia with maturation	http://purl.obolibrary.org/obo/MONDO_0015667	acute myeloid leukemia by FAB classification		An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0020325	anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0000430	mature T-cell and NK-cell non-Hodgkin lymphoma		Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.
http://purl.obolibrary.org/obo/MONDO_0020326	lymphomatoid papulosis	http://purl.obolibrary.org/obo/MONDO_0018897	primary cutaneous CD30+ T-cell lymphoproliferative disease		Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.
http://purl.obolibrary.org/obo/MONDO_0020331	indolent systemic mastocytosis	http://purl.obolibrary.org/obo/MONDO_0016586	systemic mastocytosis		Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.
http://purl.obolibrary.org/obo/MONDO_0020333	aggressive systemic mastocytosis	http://purl.obolibrary.org/obo/MONDO_0016586	systemic mastocytosis		Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.
http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia	http://purl.obolibrary.org/obo/MONDO_0016292	nodular neuronal heterotopia		Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
http://purl.obolibrary.org/obo/MONDO_0020364	posterior polymorphous corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020214	posterior corneal dystrophy		Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
http://purl.obolibrary.org/obo/MONDO_0020367	juvenile open angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.
http://purl.obolibrary.org/obo/MONDO_0020369	Chandler syndrome	http://purl.obolibrary.org/obo/MONDO_0018988	iridocorneal endothelial syndrome		Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.
http://purl.obolibrary.org/obo/MONDO_0020370	Cogan-Reese syndrome	http://purl.obolibrary.org/obo/MONDO_0018988	iridocorneal endothelial syndrome		Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.
http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
http://purl.obolibrary.org/obo/MONDO_0020381	patterned macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0018973	patterned dystrophy of the retinal pigment epithelium		A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.
http://purl.obolibrary.org/obo/MONDO_0020391	pulmonary artery coming from the aorta	http://purl.obolibrary.org/obo/MONDO_0015239	abnormal origin of the pulmonary artery		Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.
http://purl.obolibrary.org/obo/MONDO_0020430	cor triatriatum sinister	http://purl.obolibrary.org/obo/MONDO_0015450	triatrial heart		Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.
http://purl.obolibrary.org/obo/MONDO_0020439	patent foramen ovale	http://purl.obolibrary.org/obo/MONDO_0006664	atrial septal defect		A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.
http://purl.obolibrary.org/obo/MONDO_0020460	acquired von willebrand syndrome	http://purl.obolibrary.org/obo/MONDO_0020599	acquired coagulation factor deficiency		Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.
http://purl.obolibrary.org/obo/MONDO_0020479	pituitary gigantism	http://purl.obolibrary.org/obo/MONDO_0019927	growth hormone-producing pituitary gland neoplasm		The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
http://purl.obolibrary.org/obo/MONDO_0020487	Pontiac fever	http://purl.obolibrary.org/obo/MONDO_0005823	legionellosis		Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.
http://purl.obolibrary.org/obo/MONDO_0020490	mosaic trisomy 9	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0020492	hemimegalencephaly	http://purl.obolibrary.org/obo/MONDO_0100283	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes		Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.
http://purl.obolibrary.org/obo/MONDO_0020496	familial porencephaly	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of porencephaly that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0020500	Marburg hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0018087	viral hemorrhagic fever		Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.
http://purl.obolibrary.org/obo/MONDO_0020501	Crimean-Congo hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.
http://purl.obolibrary.org/obo/MONDO_0020502	yellow fever	http://purl.obolibrary.org/obo/MONDO_0018093	arbovirus fever		Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.
http://purl.obolibrary.org/obo/MONDO_0020517	eosinophilic granuloma	http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis		A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.
http://purl.obolibrary.org/obo/MONDO_0020518	Hashimoto-Pritzker syndrome	http://purl.obolibrary.org/obo/MONDO_0017025	Langerhans cell histiocytosis specific to childhood		Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).
http://purl.obolibrary.org/obo/MONDO_0020525	transient neonatal diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0016391	neonatal diabetes mellitus		Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.
http://purl.obolibrary.org/obo/MONDO_0020527	ectopic Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0020528	ACTH-dependent Cushing syndrome		A form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.
http://purl.obolibrary.org/obo/MONDO_0020531	long chain acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.
http://purl.obolibrary.org/obo/MONDO_0020540	ovarian gynandroblastoma	http://purl.obolibrary.org/obo/MONDO_0021657	ovarian sex cord-stromal tumor		A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both.
http://purl.obolibrary.org/obo/MONDO_0020546	acute graft versus host disease	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.
http://purl.obolibrary.org/obo/MONDO_0020547	chronic graft versus host disease	http://purl.obolibrary.org/obo/MONDO_0013730	graft versus host disease		Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications.
http://purl.obolibrary.org/obo/MONDO_0020549	invasive hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0018944	gestational trophoblastic neoplasm		A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.
http://purl.obolibrary.org/obo/MONDO_0020550	gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018944	gestational trophoblastic neoplasm		Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.
http://purl.obolibrary.org/obo/MONDO_0020560	atypical teratoid rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0002728	rhabdoid tumor		Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.
http://purl.obolibrary.org/obo/MONDO_0020562	pleomorphic liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.
http://purl.obolibrary.org/obo/MONDO_0020563	dedifferentiated liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.
http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility	http://purl.obolibrary.org/obo/MONDO_0042489	disease susceptibility		A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
http://purl.obolibrary.org/obo/MONDO_0021002	syndactyly	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.
http://purl.obolibrary.org/obo/MONDO_0021003	polydactyly	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.
http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.
http://purl.obolibrary.org/obo/MONDO_0021013	trichothiodystrophy 4, nonphotosensitive	http://purl.obolibrary.org/obo/MONDO_0018053	trichothiodystrophy		A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
http://purl.obolibrary.org/obo/MONDO_0021018	autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	http://purl.obolibrary.org/obo/MONDO_0015151	muscular dystrophy, limb-girdle, autosomal dominant		Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.
http://purl.obolibrary.org/obo/MONDO_0021019	X-linked recessive ocular albinism	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
http://purl.obolibrary.org/obo/MONDO_0021020	Crigler-Najjar syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009044	Crigler-Najjar syndrome		Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).
http://purl.obolibrary.org/obo/MONDO_0021022	hereditary hyperekplexia	http://purl.obolibrary.org/obo/MONDO_0019253	metabolic disease involving other neurotransmitter deficiency		Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
http://purl.obolibrary.org/obo/MONDO_0021023	complete androgen insensitivity syndrome	http://purl.obolibrary.org/obo/MONDO_0019154	androgen insensitivity syndrome		Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.
http://purl.obolibrary.org/obo/MONDO_0021039	extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0021038	Ewing sarcoma/peripheral primitive neuroectodermal tumor		A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.
http://purl.obolibrary.org/obo/MONDO_0021041	pleural solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0021065	pleural neoplasm		A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.
http://purl.obolibrary.org/obo/MONDO_0021042	glioma	http://purl.obolibrary.org/obo/MONDO_0021193	neuroepithelial neoplasm		A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.
http://purl.obolibrary.org/obo/MONDO_0021046	breast fibroepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021045	fibroepithelial neoplasm		A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.
http://purl.obolibrary.org/obo/MONDO_0021048	benign mastocytoma	http://purl.obolibrary.org/obo/MONDO_0003079	mastocytoma		A localized mast cell neoplasm without metastatic potential.
http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm	http://purl.obolibrary.org/obo/MONDO_0002187	vulvar disease		A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.
http://purl.obolibrary.org/obo/MONDO_0021050	vaginal neoplasm	http://purl.obolibrary.org/obo/MONDO_0001433	vaginal disorder		A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0009330	hemangiopericytoma, malignant	http://purl.obolibrary.org/obo/MONDO_0016238	solitary fibrous tumor		An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.
http://purl.obolibrary.org/obo/MONDO_0009337	Hennekam lymphangiectasia-lymphedema syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016256	Hennekam syndrome		Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.
http://purl.obolibrary.org/obo/MONDO_0009338	hepatic veno-occlusive disease-immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0019514	hepatic veno-occlusive disease		Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.
http://purl.obolibrary.org/obo/MONDO_0009340	non-spherocytic hemolytic anemia due to hexokinase deficiency	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.
http://purl.obolibrary.org/obo/MONDO_0009342	Hirschsprung disease-hearing loss-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0009348	classic Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0004952	Hodgkins lymphoma		Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.
http://purl.obolibrary.org/obo/MONDO_0009352	classic homocystinuria	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
http://purl.obolibrary.org/obo/MONDO_0009353	homocystinuria due to methylene tetrahydrofolate reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.
http://purl.obolibrary.org/obo/MONDO_0009356	autosomal recessive humeroradial synostosis	http://purl.obolibrary.org/obo/MONDO_0007737	humeroradial synostosis		Autosomal recessive form of humeroradial synostosis (disease).
http://purl.obolibrary.org/obo/MONDO_0009360	hydrocephalus, nonsyndromic, autosomal recessive 1	http://purl.obolibrary.org/obo/MONDO_0016349	congenital hydrocephalus		Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.
http://purl.obolibrary.org/obo/MONDO_0009364	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.
http://purl.obolibrary.org/obo/MONDO_0009369	non-immune hydrops fetalis	http://purl.obolibrary.org/obo/MONDO_0015193	hydrops fetalis		Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.
http://purl.obolibrary.org/obo/MONDO_0009384	Leydig cell hypoplasia, type 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.
http://purl.obolibrary.org/obo/MONDO_0009398	hyperphosphatasia with intellectual disability syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016596	hyperphosphatasia-intellectual disability syndrome		Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.
http://purl.obolibrary.org/obo/MONDO_0009400	hyperprolinemia type 1	http://purl.obolibrary.org/obo/MONDO_0023419	hyperprolinemia		Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).
http://purl.obolibrary.org/obo/MONDO_0009420	primary hypergonadotropic hypogonadism-partial alopecia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.
http://purl.obolibrary.org/obo/MONDO_0009433	hypoplastic left heart syndrome 1	http://purl.obolibrary.org/obo/MONDO_0004933	hypoplastic left heart syndrome		Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.
http://purl.obolibrary.org/obo/MONDO_0009459	channelopathy-associated congenital insensitivity to pain, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
http://purl.obolibrary.org/obo/MONDO_0009469	benign recurrent intrahepatic cholestasis type 1	http://purl.obolibrary.org/obo/MONDO_0019008	benign recurrent intrahepatic cholestasis		Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.
http://purl.obolibrary.org/obo/MONDO_0009470	Baraitser-Winter syndrome 1	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.
http://purl.obolibrary.org/obo/MONDO_0009476	atresia of small intestine	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.
http://purl.obolibrary.org/obo/MONDO_0009478	combined immunodeficiency due to DOCK8 deficiency	http://purl.obolibrary.org/obo/MONDO_0018037	hyper-IgE syndrome		Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).
http://purl.obolibrary.org/obo/MONDO_0009489	hereditary palmoplantar keratoderma, Gamborg-Nielsen type	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009503	pyruvate dehydrogenase E3-binding protein deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	pyruvate dehydrogenase deficiency		Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
http://purl.obolibrary.org/obo/MONDO_0009518	leprosy, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any leprosy in which the cause of the disease is a mutation in the TLR2 gene.
http://purl.obolibrary.org/obo/MONDO_0009519	letterer-Siwe disease	http://purl.obolibrary.org/obo/MONDO_0017025	Langerhans cell histiocytosis specific to childhood		A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.
http://purl.obolibrary.org/obo/MONDO_0009524	intellectual disability-spasticity-ectrodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).
http://purl.obolibrary.org/obo/MONDO_0009529	pyruvate dehydrogenase E3 deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	pyruvate dehydrogenase deficiency		Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
http://purl.obolibrary.org/obo/MONDO_0009549	severe early-childhood-onset retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0800406	ABCA4-related retinopathy		Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.
http://purl.obolibrary.org/obo/MONDO_0009567	Marinesco-Sjogren syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
http://purl.obolibrary.org/obo/MONDO_0009569	Hennekam-Beemer syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009571	Meckel syndrome, type 1	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.
http://purl.obolibrary.org/obo/MONDO_0009572	autosomal recessive familial Mediterranean fever	http://purl.obolibrary.org/obo/MONDO_0018088	familial Mediterranean fever		Autosomal recessive form of familial Mediterranean fever.
http://purl.obolibrary.org/obo/MONDO_0009579	Frank-Ter Haar syndrome	http://purl.obolibrary.org/obo/MONDO_0019690	filamin-related bone disorder		A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0009583	blepharophimosis - intellectual disability syndrome, Ohdo type	http://purl.obolibrary.org/obo/MONDO_0000734	Ohdo syndrome and variants		Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0009589	mesomelic dwarfism-cleft palate-camptodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009591	metachromatic leukodystrophy, juvenile form	http://purl.obolibrary.org/obo/MONDO_0018868	metachromatic leukodystrophy		Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.
http://purl.obolibrary.org/obo/MONDO_0009607	methionine adenosyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0019222	inborn disorder of methionine cycle and sulfur amino acid metabolism		Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
http://purl.obolibrary.org/obo/MONDO_0009622	Jawad syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.
http://purl.obolibrary.org/obo/MONDO_0009629	Desbuquois dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0015426	Desbuquois dysplasia		Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.
http://purl.obolibrary.org/obo/MONDO_0009642	orofaciodigital syndrome type II	http://purl.obolibrary.org/obo/MONDO_0019691	short rib dysplasia		Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
http://purl.obolibrary.org/obo/MONDO_0009653	mucolipidosis type IV	http://purl.obolibrary.org/obo/MONDO_0031422	familial mucolipidosis		A lysosomal disease characterized by psychomotor delay, progressive visual impairment, and achlorhydria.
http://purl.obolibrary.org/obo/MONDO_0009655	mucopolysaccharidosis type 3A	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.
http://purl.obolibrary.org/obo/MONDO_0009656	mucopolysaccharidosis type 3B	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
http://purl.obolibrary.org/obo/MONDO_0009657	mucopolysaccharidosis type 3C	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
http://purl.obolibrary.org/obo/MONDO_0009658	mucopolysaccharidosis type 3D	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
http://purl.obolibrary.org/obo/MONDO_0009659	mucopolysaccharidosis type 4A	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
http://purl.obolibrary.org/obo/MONDO_0009660	mucopolysaccharidosis type 4B	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.
http://purl.obolibrary.org/obo/MONDO_0009667	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
http://purl.obolibrary.org/obo/MONDO_0009668	lethal multiple pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0017415	multiple pterygium syndrome		Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.
http://purl.obolibrary.org/obo/MONDO_0009680	congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009699	action myoclonus-renal failure syndrome	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
http://purl.obolibrary.org/obo/MONDO_0009704	carnitine palmitoyl transferase II deficiency, myopathic form	http://purl.obolibrary.org/obo/MONDO_0015515	carnitine palmitoyltransferase II deficiency		The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.
http://purl.obolibrary.org/obo/MONDO_0009709	myopathy, centronuclear, 2	http://purl.obolibrary.org/obo/MONDO_0015705	autosomal recessive centronuclear myopathy		Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.
http://purl.obolibrary.org/obo/MONDO_0009711	congenital fiber-type disproportion myopathy	http://purl.obolibrary.org/obo/MONDO_0002921	congenital structural myopathy		A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.
http://purl.obolibrary.org/obo/MONDO_0009712	congenital multicore myopathy with external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0100150	RYR1-related myopathy		An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.
http://purl.obolibrary.org/obo/MONDO_0009715	myotonia congenita, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		Autosomal recessive form of myotonia congenita.
http://purl.obolibrary.org/obo/MONDO_0009723	Leigh syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
http://purl.obolibrary.org/obo/MONDO_0009733	nephrotic syndrome, type 4	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.
http://purl.obolibrary.org/obo/MONDO_0009734	hyperinsulinemic hypoglycemia, familial, 1	http://purl.obolibrary.org/obo/MONDO_0005803	hyperinsulinemic hypoglycemia		Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.
http://purl.obolibrary.org/obo/MONDO_0009746	hereditary sensory and autonomic neuropathy type 4	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.
http://purl.obolibrary.org/obo/MONDO_0009755	neutrophil actin dysfunction	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.
http://purl.obolibrary.org/obo/MONDO_0009756	Niemann-Pick disease type A	http://purl.obolibrary.org/obo/MONDO_0100464	acid sphingomyelinase deficiency		Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
http://purl.obolibrary.org/obo/MONDO_0009757	Niemann-Pick disease, type C1	http://purl.obolibrary.org/obo/MONDO_0018982	Niemann-Pick disease type C		Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
http://purl.obolibrary.org/obo/MONDO_0009761	cystic hygroma	http://purl.obolibrary.org/obo/MONDO_0002013	lymphangioma		A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.
http://purl.obolibrary.org/obo/MONDO_0009767	oculocerebral hypopigmentation syndrome, Cross type	http://purl.obolibrary.org/obo/MONDO_0017305	syndromic oculocutaneous albinism		Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.
http://purl.obolibrary.org/obo/MONDO_0009773	odonto-onycho-dermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0100358	ectodermal dysplasia WNT10A related		A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.
http://purl.obolibrary.org/obo/MONDO_0009779	autosomal recessive omodysplasia	http://purl.obolibrary.org/obo/MONDO_0017136	omodysplasia		Autosomal recessive form of omodysplasia.
http://purl.obolibrary.org/obo/MONDO_0009783	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	http://purl.obolibrary.org/obo/MONDO_0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions		Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
http://purl.obolibrary.org/obo/MONDO_0009806	Bruck syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017195	Bruck syndrome		Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.
http://purl.obolibrary.org/obo/MONDO_0009809	multicentric osteolysis, nodulosis, and arthropathy	http://purl.obolibrary.org/obo/MONDO_0018298	multicentric osteolysis-nodulosis-arthropathy spectrum		A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.
http://purl.obolibrary.org/obo/MONDO_0009849	hyperimmunoglobulinemia D with periodic fever	http://purl.obolibrary.org/obo/MONDO_0017708	mevalonate kinase deficiency		Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
http://purl.obolibrary.org/obo/MONDO_0009853	Imerslund-Grasbeck syndrome	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
http://purl.obolibrary.org/obo/MONDO_0009866	phosphoenolpyruvate carboxykinase deficiency, cytosolic	http://purl.obolibrary.org/obo/MONDO_0017320	phosphoenolpyruvate carboxykinase deficiency		PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).
http://purl.obolibrary.org/obo/MONDO_0009878	pituitary hormone deficiency, combined, 2	http://purl.obolibrary.org/obo/MONDO_0019591	panhypopituitarism		Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.
http://purl.obolibrary.org/obo/MONDO_0009879	short stature due to growth hormone qualitative anomaly	http://purl.obolibrary.org/obo/MONDO_0000050	isolated congenital growth hormone deficiency		Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0009926	autosomal recessive multiple pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0009936	familial primary pulmonary hypoplasia	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.
http://purl.obolibrary.org/obo/MONDO_0009943	Pyle disease	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.
http://purl.obolibrary.org/obo/MONDO_0009962	Senior-Loken syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017842	Senior-Loken syndrome		Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.
http://purl.obolibrary.org/obo/MONDO_0009970	renal tubular dysgenesis of genetic origin	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0010005	saccharopinuria	http://purl.obolibrary.org/obo/MONDO_0017351	inborn disorder of lysine and hydroxylysine metabolism		Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.
http://purl.obolibrary.org/obo/MONDO_0010007	microbrachycephaly-ptosis-cleft lip syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0010011	schizencephaly	http://purl.obolibrary.org/obo/MONDO_0017103	encephaloclastic disorder		Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
http://purl.obolibrary.org/obo/MONDO_0010014	craniometadiaphyseal dysplasia, wormian bone type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.
http://purl.obolibrary.org/obo/MONDO_0010015	anterior segment dysgenesis 7	http://purl.obolibrary.org/obo/MONDO_0019629	sclerocornea		Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.
http://purl.obolibrary.org/obo/MONDO_0010033	generalized peeling skin syndrome	http://purl.obolibrary.org/obo/MONDO_0019347	peeling skin syndrome		Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.
http://purl.obolibrary.org/obo/MONDO_0010038	growth delay due to insulin-like growth factor I resistance	http://purl.obolibrary.org/obo/MONDO_0015892	growth hormone insensitivity syndrome		Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).
http://purl.obolibrary.org/obo/MONDO_0010075	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	http://purl.obolibrary.org/obo/MONDO_0100586	B3GALT6-congenital disorder of glycosylation		Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
http://purl.obolibrary.org/obo/MONDO_0010080	familial infantile bilateral striatal necrosis	http://purl.obolibrary.org/obo/MONDO_0015518	infantile bilateral striatal necrosis		The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
http://purl.obolibrary.org/obo/MONDO_0010085	Schilder disease	http://purl.obolibrary.org/obo/MONDO_0002562	demyelinating disease		Schilder's disease is a progressive demyelinating disorder of the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0010091	Cold-induced sweating syndrome 1	http://purl.obolibrary.org/obo/MONDO_0015526	cold-induced sweating syndrome		Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
http://purl.obolibrary.org/obo/MONDO_0010092	Filippi syndrome	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0010104	non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.
http://purl.obolibrary.org/obo/MONDO_0010111	odontotrichomelic syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0010117	3M syndrome 1	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.
http://purl.obolibrary.org/obo/MONDO_0010122	congenital thrombotic thrombocytopenic purpura	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
http://purl.obolibrary.org/obo/MONDO_0010131	thyroid hormone resistance, generalized, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0700478	resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta		A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
http://purl.obolibrary.org/obo/MONDO_0010139	isolated thyroid-stimulating hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
http://purl.obolibrary.org/obo/MONDO_0010140	isolated thyrotropin-releasing hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0016410	central congenital hypothyroidism		Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.
http://purl.obolibrary.org/obo/MONDO_0010142	hypothyroidism due to TSH receptor mutations	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
http://purl.obolibrary.org/obo/MONDO_0010167	urocanic aciduria	http://purl.obolibrary.org/obo/MONDO_0019228	inborn disorder of histidine metabolism		Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.
http://purl.obolibrary.org/obo/MONDO_0010172	VACTERL with hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.
http://purl.obolibrary.org/obo/MONDO_0010173	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0017771	Mayer-Rokitansky-Kuster-Hauser syndrome		Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.
http://purl.obolibrary.org/obo/MONDO_0010178	congenital bilateral aplasia of vas deferens from CFTR mutation	http://purl.obolibrary.org/obo/MONDO_7770004	CFTR-related disorder		An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.
http://purl.obolibrary.org/obo/MONDO_0010180	autosomal recessive spondylocostal dysostosis	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
http://purl.obolibrary.org/obo/MONDO_0010181	oculogastrointestinal muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.
http://purl.obolibrary.org/obo/MONDO_0010186	vitamin D-dependent rickets, type 2A	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.
http://purl.obolibrary.org/obo/MONDO_0010194	Weill-Marchesani syndrome 1	http://purl.obolibrary.org/obo/MONDO_0018096	Weill-Marchesani syndrome		Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.
http://purl.obolibrary.org/obo/MONDO_0010209	xanthinuria type I	http://purl.obolibrary.org/obo/MONDO_0018106	hereditary xanthinuria		A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
http://purl.obolibrary.org/obo/MONDO_0010222	X-linked Opitz G/BBB syndrome	http://purl.obolibrary.org/obo/MONDO_0017138	Opitz G/BBB syndrome		X-linked form of Opitz G/BBB syndrome.
http://purl.obolibrary.org/obo/MONDO_0010225	Dent disease type 1	http://purl.obolibrary.org/obo/MONDO_0015612	Dent disease		Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.
http://purl.obolibrary.org/obo/MONDO_0010239	lissencephaly type 1 due to doublecortin gene mutation	http://purl.obolibrary.org/obo/MONDO_0020491	subcortical band heterotopia		Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.
http://purl.obolibrary.org/obo/MONDO_0010247	X-linked cerebral adrenoleukodystrophy	http://purl.obolibrary.org/obo/MONDO_0018544	adrenoleukodystrophy		A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.
http://purl.obolibrary.org/obo/MONDO_0010256	intellectual disability, X-linked 21	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.
http://purl.obolibrary.org/obo/MONDO_0010295	anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0010302	Ito hypomelanosis	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.
http://purl.obolibrary.org/obo/MONDO_0010308	thrombocytopenia, X-linked, with or without dyserythropoietic anemia	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.
http://purl.obolibrary.org/obo/MONDO_0010318	FG syndrome 4	http://purl.obolibrary.org/obo/MONDO_1060192	CASK-related intellectual disability		Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.
http://purl.obolibrary.org/obo/MONDO_0010323	Atkin-Flaitz syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.
http://purl.obolibrary.org/obo/MONDO_0010358	hypophosphatemic rickets, X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.
http://purl.obolibrary.org/obo/MONDO_0010359	Dent disease type 2	http://purl.obolibrary.org/obo/MONDO_0015612	Dent disease		Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.
http://purl.obolibrary.org/obo/MONDO_0010361	intellectual disability, X-linked 30	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.
http://purl.obolibrary.org/obo/MONDO_0010364	X-linked intellectual disability-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0017004	partial monosomy of the short arm of chromosome X		X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
http://purl.obolibrary.org/obo/MONDO_0010367	SHOX-related short stature	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.
http://purl.obolibrary.org/obo/MONDO_0010370	Cornelia de Lange syndrome 2	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.
http://purl.obolibrary.org/obo/MONDO_0010390	ocular albinism with late-onset sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0017304	ocular albinism		Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.
http://purl.obolibrary.org/obo/MONDO_0010400	X-linked scapuloperoneal muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0800462	FHL1-related myopathy		X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.
http://purl.obolibrary.org/obo/MONDO_0010401	X-linked myopathy with postural muscle atrophy	http://purl.obolibrary.org/obo/MONDO_0800462	FHL1-related myopathy		X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
http://purl.obolibrary.org/obo/MONDO_0010429	intellectual disability, X-linked 96	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.
http://purl.obolibrary.org/obo/MONDO_0010437	severe X-linked mitochondrial encephalomyopathy	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
http://purl.obolibrary.org/obo/MONDO_0010438	paroxysmal nocturnal hemoglobinuria 1	http://purl.obolibrary.org/obo/MONDO_0100244	paroxysmal nocturnal hemoglobinuria		Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.
http://purl.obolibrary.org/obo/MONDO_0010448	moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0010451	intellectual disability, X-linked 41	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.
http://purl.obolibrary.org/obo/MONDO_0010452	intellectual disability, X-linked 90	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.
http://purl.obolibrary.org/obo/MONDO_0010455	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.
http://purl.obolibrary.org/obo/MONDO_0010463	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
http://purl.obolibrary.org/obo/MONDO_0010464	X-linked cerebral-cerebellar-coloboma syndrome syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.
http://purl.obolibrary.org/obo/MONDO_0010467	Xq27.3q28 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0017010	partial duplication of the long arm of chromosome X		Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0010474	linear skin defects with multiple congenital anomalies 2	http://purl.obolibrary.org/obo/MONDO_0010672	linear skin defects with multiple congenital anomalies		Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.
http://purl.obolibrary.org/obo/MONDO_0010475	X-linked central congenital hypothyroidism with late-onset testicular enlargement	http://purl.obolibrary.org/obo/MONDO_0016410	central congenital hypothyroidism		An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.
http://purl.obolibrary.org/obo/MONDO_0010477	blepharophimosis - intellectual disability syndrome, MKB type	http://purl.obolibrary.org/obo/MONDO_0100000	MED12-related intellectual disability syndrome		The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
http://purl.obolibrary.org/obo/MONDO_0010482	X-linked parkinsonism-spasticity syndrome	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.
http://purl.obolibrary.org/obo/MONDO_0010483	X-linked intellectual disability, Cantagrel type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
http://purl.obolibrary.org/obo/MONDO_0010484	hearing loss, X-linked 6	http://purl.obolibrary.org/obo/MONDO_0019586	X-linked nonsyndromic hearing loss		Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.
http://purl.obolibrary.org/obo/MONDO_0010485	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
http://purl.obolibrary.org/obo/MONDO_0010487	intellectual disability, X-linked 99	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.
http://purl.obolibrary.org/obo/MONDO_0010488	intellectual disability, X-linked 100	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.
http://purl.obolibrary.org/obo/MONDO_0010489	intellectual disability, X-linked 101	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.
http://purl.obolibrary.org/obo/MONDO_0010490	SSR4-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).
http://purl.obolibrary.org/obo/MONDO_0010492	pituitary adenoma, growth hormone-secreting, 2	http://purl.obolibrary.org/obo/MONDO_0017824	familial isolated pituitary adenoma		Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.
http://purl.obolibrary.org/obo/MONDO_0010493	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.
http://purl.obolibrary.org/obo/MONDO_0010494	linear skin defects with multiple congenital anomalies 3	http://purl.obolibrary.org/obo/MONDO_1040023	NDUFB11-related disorders		Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.
http://purl.obolibrary.org/obo/MONDO_0010495	trichothiodystrophy 5, nonphotosensitive	http://purl.obolibrary.org/obo/MONDO_0018053	trichothiodystrophy		Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.
http://purl.obolibrary.org/obo/MONDO_0010496	X-linked intellectual disability-short stature-overweight syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.
http://purl.obolibrary.org/obo/MONDO_0010497	intellectual disability, X-linked 102	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.
http://purl.obolibrary.org/obo/MONDO_0010500	intellectual disability, X-linked, syndromic 33	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.
http://purl.obolibrary.org/obo/MONDO_0010502	intellectual disability, X-linked 99, syndromic, female-restricted	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.
http://purl.obolibrary.org/obo/MONDO_0010504	immunodeficiency 47	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.
http://purl.obolibrary.org/obo/MONDO_0010506	intellectual disability, X-linked 61	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.
http://purl.obolibrary.org/obo/MONDO_0010508	intellectual disability, X-linked 103	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.
http://purl.obolibrary.org/obo/MONDO_0010509	intellectual disability, X-linked 104	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.
http://purl.obolibrary.org/obo/MONDO_0010510	intellectual disability, X-linked 105	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.
http://purl.obolibrary.org/obo/MONDO_0010517	ciliary dyskinesia, primary, 36, X-linked	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.
http://purl.obolibrary.org/obo/MONDO_0010531	contractures-ectodermal dysplasia-cleft lip/palate syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
http://purl.obolibrary.org/obo/MONDO_0010535	Bazex-Dupre-Christol syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0010555	X-linked chondrodysplasia punctata 1	http://purl.obolibrary.org/obo/MONDO_0010556	X-linked chondrodysplasia punctata		Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.
http://purl.obolibrary.org/obo/MONDO_0010560	cleft palate with or without ankyloglossia, X-linked	http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate		X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0010579	X-linked corneal dermoid	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.
http://purl.obolibrary.org/obo/MONDO_0010583	Dyggve-Melchior-Clausen syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0000425	X-linked disease		X-linked form of Dyggve-Melchior-Clausen disease.
http://purl.obolibrary.org/obo/MONDO_0010584	dyskeratosis congenita, X-linked	http://purl.obolibrary.org/obo/MONDO_0100152	DKC1-related disorder		X-linked form of dyskeratosis congenita.
http://purl.obolibrary.org/obo/MONDO_0010585	X-linked hypohidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016535	hypohidrotic ectodermal dysplasia		An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.
http://purl.obolibrary.org/obo/MONDO_0010590	FG syndrome 1	http://purl.obolibrary.org/obo/MONDO_0100000	MED12-related intellectual disability syndrome		Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.
http://purl.obolibrary.org/obo/MONDO_0010611	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	http://purl.obolibrary.org/obo/MONDO_0017140	L1 syndrome		A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0010617	male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0010626	hyper-IgM syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0003947	hyper-IgM syndrome		The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.
http://purl.obolibrary.org/obo/MONDO_0010632	developmental and epileptic encephalopathy, 1	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.
http://purl.obolibrary.org/obo/MONDO_0010647	spermatogenic failure, X-linked, 2	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.
http://purl.obolibrary.org/obo/MONDO_0010649	isolated congenital megalocornea	http://purl.obolibrary.org/obo/MONDO_0009576	megalocornea		Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.
http://purl.obolibrary.org/obo/MONDO_0010659	FRAXE intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.
http://purl.obolibrary.org/obo/MONDO_0010663	intellectual disability-hypotonic facies syndrome, X-linked, 1	http://purl.obolibrary.org/obo/MONDO_0016980	ATR-X-related syndrome		A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.
http://purl.obolibrary.org/obo/MONDO_0010669	syndactyly type 8	http://purl.obolibrary.org/obo/MONDO_0019530	non-syndromic syndactyly		Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.
http://purl.obolibrary.org/obo/MONDO_0010683	X-linked myotubular myopathy	http://purl.obolibrary.org/obo/MONDO_0018947	centronuclear myopathy		A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0010704	otopalatodigital syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0019027	otopalatodigital syndrome		The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
http://purl.obolibrary.org/obo/MONDO_0010706	premature ovarian failure 1	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.
http://purl.obolibrary.org/obo/MONDO_0010710	Pierre Robin syndrome-faciodigital anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.
http://purl.obolibrary.org/obo/MONDO_0010713	properdin deficiency, X-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
http://purl.obolibrary.org/obo/MONDO_0010717	pyruvate dehydrogenase E1-alpha deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	pyruvate dehydrogenase deficiency		Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
http://purl.obolibrary.org/obo/MONDO_0010798	proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0010802	pancreatic hypoplasia-diabetes-congenital heart disease syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
http://purl.obolibrary.org/obo/MONDO_0010824	disorder of sex development-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.
http://purl.obolibrary.org/obo/MONDO_0010831	familial caudal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0018639	caudal regression-sirenomelia spectrum		Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.
http://purl.obolibrary.org/obo/MONDO_0010833	Hirschsprung disease, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene.
http://purl.obolibrary.org/obo/MONDO_0010838	gonadal agenesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A congenital disorder characterized by the complete absence of gonadal tissue.
http://purl.obolibrary.org/obo/MONDO_0010857	semantic dementia	http://purl.obolibrary.org/obo/MONDO_0017160	behavioral variant of frontotemporal dementia		Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
http://purl.obolibrary.org/obo/MONDO_0010897	schizophrenia 3	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.
http://purl.obolibrary.org/obo/MONDO_0010906	orofacial cleft 11	http://purl.obolibrary.org/obo/MONDO_0016044	cleft lip/palate		Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.
http://purl.obolibrary.org/obo/MONDO_0010909	UV-sensitive syndrome 1	http://purl.obolibrary.org/obo/MONDO_0015797	UV-sensitive syndrome		Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.
http://purl.obolibrary.org/obo/MONDO_0010910	enuresis, nocturnal, 1	http://purl.obolibrary.org/obo/MONDO_0000022	nocturnal enuresis		Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.
http://purl.obolibrary.org/obo/MONDO_0010914	carnitine palmitoyl transferase II deficiency, severe infantile form	http://purl.obolibrary.org/obo/MONDO_0015515	carnitine palmitoyltransferase II deficiency		The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
http://purl.obolibrary.org/obo/MONDO_0010931	vitamin D-dependent rickets, type 2B	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.
http://purl.obolibrary.org/obo/MONDO_0010938	T-B+ severe combined immunodeficiency due to JAK3 deficiency	http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency		Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
http://purl.obolibrary.org/obo/MONDO_0010939	gallbladder disease 1	http://purl.obolibrary.org/obo/MONDO_0700225	hereditary gallbladder disorder		A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.
http://purl.obolibrary.org/obo/MONDO_0010941	nocturnal enuresis, 2	http://purl.obolibrary.org/obo/MONDO_0000022	nocturnal enuresis		Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.
http://purl.obolibrary.org/obo/MONDO_0010943	schizophrenia 4	http://purl.obolibrary.org/obo/MONDO_0100182	schizophrenia, susceptibility to		A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.
http://purl.obolibrary.org/obo/MONDO_0010962	diffuse nonepidermolytic palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.
http://purl.obolibrary.org/obo/MONDO_0010974	nephrotic syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.
http://purl.obolibrary.org/obo/MONDO_0010976	epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.
http://purl.obolibrary.org/obo/MONDO_0010989	Mayer-Rokitansky-Küster-Hauser syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0017771	Mayer-Rokitansky-Kuster-Hauser syndrome		Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.
http://purl.obolibrary.org/obo/MONDO_0010997	supranuclear palsy, progressive, 1	http://purl.obolibrary.org/obo/MONDO_0019037	progressive supranuclear palsy		Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.
http://purl.obolibrary.org/obo/MONDO_0011002	neuropathy, hereditary motor and sensory, type 6A	http://purl.obolibrary.org/obo/MONDO_0019551	hereditary motor and sensory neuropathy type 6		Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.
http://purl.obolibrary.org/obo/MONDO_0011022	Potocki-Shaffer syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
http://purl.obolibrary.org/obo/MONDO_0011048	epilepsy-microcephaly-skeletal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.
http://purl.obolibrary.org/obo/MONDO_0011050	microcephaly-cardiac defect-lung malsegmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
http://purl.obolibrary.org/obo/MONDO_0011070	van Maldergem syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017813	van Maldergem syndrome		Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.
http://purl.obolibrary.org/obo/MONDO_0011098	prostate cancer, hereditary, 1	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.
http://purl.obolibrary.org/obo/MONDO_0011116	lung agenesis-heart defect-thumb anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.
http://purl.obolibrary.org/obo/MONDO_0011124	spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
http://purl.obolibrary.org/obo/MONDO_0011128	Sheldon-hall syndrome	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
http://purl.obolibrary.org/obo/MONDO_0011138	systemic lupus erythematosus, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene.
http://purl.obolibrary.org/obo/MONDO_0011142	Ehlers-Danlos syndrome, musculocontractural type	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
http://purl.obolibrary.org/obo/MONDO_0011153	hyperinsulinemic hypoglycemia, familial, 2	http://purl.obolibrary.org/obo/MONDO_0019010	congenital isolated hyperinsulinism		Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.
http://purl.obolibrary.org/obo/MONDO_0011157	Gomez-Lopez-Hernandez syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.
http://purl.obolibrary.org/obo/MONDO_0011163	malignant hyperthermia, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0800188	malignant hyperthermia, susceptibility to		Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.
http://purl.obolibrary.org/obo/MONDO_0011165	glomerulopathy with fibronectin deposits 2	http://purl.obolibrary.org/obo/MONDO_0007671	fibronectin glomerulopathy		Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.
http://purl.obolibrary.org/obo/MONDO_0011173	thrombocythemia 2	http://purl.obolibrary.org/obo/MONDO_0019111	familial thrombocytosis		Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.
http://purl.obolibrary.org/obo/MONDO_0011175	Friedreich ataxia 2	http://purl.obolibrary.org/obo/MONDO_0100339	Friedreich ataxia		Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11
http://purl.obolibrary.org/obo/MONDO_0011193	cone dystrophy 3	http://purl.obolibrary.org/obo/MONDO_0700376	GUCA1A-related retinopathy		Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.
http://purl.obolibrary.org/obo/MONDO_0011208	malignant atrophic papulosis	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.
http://purl.obolibrary.org/obo/MONDO_0011232	migraine, familial hemiplegic, 2	http://purl.obolibrary.org/obo/MONDO_0000700	familial hemiplegic migraine		Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.
http://purl.obolibrary.org/obo/MONDO_0011234	auriculocondylar syndrome 1	http://purl.obolibrary.org/obo/MONDO_0000107	auriculocondylar syndrome		Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.
http://purl.obolibrary.org/obo/MONDO_0011236	hyperinsulinemic hypoglycemia, familial, 3	http://purl.obolibrary.org/obo/MONDO_0019010	congenital isolated hyperinsulinism		A form of diffuse hyperinsulinism due to glucokinase hyperactivity associated with a variation in the GCK gene, and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals.
http://purl.obolibrary.org/obo/MONDO_0011904	seizures, benign familial infantile, 3	http://purl.obolibrary.org/obo/MONDO_0017615	benign familial infantile epilepsy		Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.
http://purl.obolibrary.org/obo/MONDO_0012580	hereditary pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0014097	congenital short bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
http://purl.obolibrary.org/obo/MONDO_0014556	congenital contractures of the limbs and face, hypotonia, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.
http://purl.obolibrary.org/obo/MONDO_0015091	autosomal dominant spastic paraplegia type 9	http://purl.obolibrary.org/obo/MONDO_0100126	P5CS deficiency		Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.
http://purl.obolibrary.org/obo/MONDO_0015170	congenital sodium diarrhea	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
http://purl.obolibrary.org/obo/MONDO_0015193	hydrops fetalis	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).
http://purl.obolibrary.org/obo/MONDO_0015204	microlissencephaly	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.
http://purl.obolibrary.org/obo/MONDO_0015231	Bartter syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
http://purl.obolibrary.org/obo/MONDO_0015518	infantile bilateral striatal necrosis	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.
http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis	http://purl.obolibrary.org/obo/MONDO_0015540	hemophagocytic syndrome		An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0015587	rolandic epilepsy-speech dyspraxia syndrome	http://purl.obolibrary.org/obo/MONDO_0020072	childhood-onset epilepsy syndrome		A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.
http://purl.obolibrary.org/obo/MONDO_0015610	acquired aplastic anemia	http://purl.obolibrary.org/obo/MONDO_0015909	aplastic anemia		An instance of aplastic anemia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0015614	dermatitis herpetiformis	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.
http://purl.obolibrary.org/obo/MONDO_0015627	multiple epiphyseal dysplasia due to collagen 9 anomaly	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015705	autosomal recessive centronuclear myopathy	http://purl.obolibrary.org/obo/MONDO_0100493	autosomal recessive titinopathy		Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
http://purl.obolibrary.org/obo/MONDO_0015821	mycosis fungoides and variants	http://purl.obolibrary.org/obo/MONDO_0015816	indolent primary cutaneous T-cell lymphoma		Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.
http://purl.obolibrary.org/obo/MONDO_0015824	oculomaxillofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015892	growth hormone insensitivity syndrome	http://purl.obolibrary.org/obo/MONDO_0015514	hereditary endocrine growth disease		Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.
http://purl.obolibrary.org/obo/MONDO_0016018	diabetic embryopathy	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Diabetic embryopathy is characterized by congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother.
http://purl.obolibrary.org/obo/MONDO_0016088	hypoxanthine-guanine phosphoribosyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Autosomal dominant form of distal myopathy.
http://purl.obolibrary.org/obo/MONDO_0016165	hereditary hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0016166	hereditary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0016240	hemimelia	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.
http://purl.obolibrary.org/obo/MONDO_0016297	prelingual non-syndromic genetic hearing loss	http://purl.obolibrary.org/obo/MONDO_0019497	nonsyndromic genetic hearing loss		A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.
http://purl.obolibrary.org/obo/MONDO_0016298	postlingual non-syndromic genetic hearing loss	http://purl.obolibrary.org/obo/MONDO_0019497	nonsyndromic genetic hearing loss		Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.
http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia	http://purl.obolibrary.org/obo/MONDO_0016587	arrhythmogenic right ventricular cardiomyopathy		Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.
http://purl.obolibrary.org/obo/MONDO_0016349	congenital hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Hydrocephalus that is present at birth.
http://purl.obolibrary.org/obo/MONDO_0016354	xeroderma pigmentosum-Cockayne syndrome complex	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).
http://purl.obolibrary.org/obo/MONDO_0016412	peripheral hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0016408	permanent congenital hypothyroidism		Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.
http://purl.obolibrary.org/obo/MONDO_0016462	isolated agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia		Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
http://purl.obolibrary.org/obo/MONDO_0016584	mandibuloacral dysplasia	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
http://purl.obolibrary.org/obo/MONDO_0016796	mitochondrial DNA depletion syndrome, encephalomyopathic form	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0016867	partial deletion of chromosome 2		Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016980	ATR-X-related syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A X-linked intellectual disability characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay/intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0017010	partial duplication of the long arm of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017008	partial duplication of chromosome X		Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0017025	Langerhans cell histiocytosis specific to childhood	http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis		Langerhans cell histiocytosis that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0017140	L1 syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
http://purl.obolibrary.org/obo/MONDO_0017160	behavioral variant of frontotemporal dementia	http://purl.obolibrary.org/obo/MONDO_0017276	frontotemporal dementia		Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.
http://purl.obolibrary.org/obo/MONDO_0017267	self-healing collodion baby	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
http://purl.obolibrary.org/obo/MONDO_0017269	X-linked ichthyosis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		X-linked form of inherited ichthyosis syndromic form.
http://purl.obolibrary.org/obo/MONDO_0017278	autoimmune polyendocrinopathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.
http://purl.obolibrary.org/obo/MONDO_0017320	phosphoenolpyruvate carboxykinase deficiency	http://purl.obolibrary.org/obo/MONDO_0019225	disorder of gluconeogenesis		Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.
http://purl.obolibrary.org/obo/MONDO_0017323	hypocalcemic rickets	http://purl.obolibrary.org/obo/MONDO_0017322	disorders of vitamin D metabolism		Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).
http://purl.obolibrary.org/obo/MONDO_0017350	inborn disorder of tryptophan metabolism	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process.
http://purl.obolibrary.org/obo/MONDO_0017355	inborn disorder of proline metabolism	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.
http://purl.obolibrary.org/obo/MONDO_0017356	inborn disorder of ornithine metabolism	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.
http://purl.obolibrary.org/obo/MONDO_0017609	renal tubular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.
http://purl.obolibrary.org/obo/MONDO_0017626	familial primary hypomagnesemia with normocalcuria	http://purl.obolibrary.org/obo/MONDO_0018100	familial primary hypomagnesemia		Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.
http://purl.obolibrary.org/obo/MONDO_0017658	hyperekplexia	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia
http://purl.obolibrary.org/obo/MONDO_0017686	inborn aminoacylase deficiency	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.
http://purl.obolibrary.org/obo/MONDO_0017720	GM2 gangliosidosis	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
http://purl.obolibrary.org/obo/MONDO_0017734	sialidosis	http://purl.obolibrary.org/obo/MONDO_0019251	oligosaccharidosis		Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.
http://purl.obolibrary.org/obo/MONDO_0017754	inborn disorder of porphyrin metabolism	http://purl.obolibrary.org/obo/MONDO_0037821	porphyrin metabolism disease		An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.
http://purl.obolibrary.org/obo/MONDO_0017771	Mayer-Rokitansky-Kuster-Hauser syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).
http://purl.obolibrary.org/obo/MONDO_0017847	autosomal recessive spastic ataxia	http://purl.obolibrary.org/obo/MONDO_0017845	spastic ataxia		Autosomal recessive form of spastic ataxia.
http://purl.obolibrary.org/obo/MONDO_0017865	congenital pulmonary valve stenosis	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).
http://purl.obolibrary.org/obo/MONDO_0017886	MIT family translocation renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma		MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.
http://purl.obolibrary.org/obo/MONDO_0017905	X-linked Mendelian susceptibility to mycobacterial diseases	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males.
http://purl.obolibrary.org/obo/MONDO_0017998	PLA2G6-associated neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.
http://purl.obolibrary.org/obo/MONDO_0018106	hereditary xanthinuria	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
http://purl.obolibrary.org/obo/MONDO_0018233	otopalatodigital syndrome spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0019690	filamin-related bone disorder		Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.
http://purl.obolibrary.org/obo/MONDO_0018424	inherited lipoic acid biosynthesis defect	http://purl.obolibrary.org/obo/MONDO_0056803	sulfur metabolism disease		An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.
http://purl.obolibrary.org/obo/MONDO_0018440	autosomal recessive distal renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_1060161	inherited distal renal tubular acidosis		The autosomal recessive form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.
http://purl.obolibrary.org/obo/MONDO_0018544	adrenoleukodystrophy	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
http://purl.obolibrary.org/obo/MONDO_0018639	caudal regression-sirenomelia spectrum	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.
http://purl.obolibrary.org/obo/MONDO_0018660	hemophilia	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
http://purl.obolibrary.org/obo/MONDO_0018662	autosomal recessive brachyolmia	http://purl.obolibrary.org/obo/MONDO_0015262	brachyolmia		Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
http://purl.obolibrary.org/obo/MONDO_0018801	congenital bilateral absence of vas deferens	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.
http://purl.obolibrary.org/obo/MONDO_0018883	Berardinelli-Seip congenital lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0020087	hereditary lipodystrophy		A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.
http://purl.obolibrary.org/obo/MONDO_0018904	primary membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.
http://purl.obolibrary.org/obo/MONDO_0018924	microphthalmia, Lenz type	http://purl.obolibrary.org/obo/MONDO_0016073	syndromic microphthalmia		A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.
http://purl.obolibrary.org/obo/MONDO_0018931	mucolipidosis type III, alpha/beta	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
http://purl.obolibrary.org/obo/MONDO_0018938	mucopolysaccharidosis type 4	http://purl.obolibrary.org/obo/MONDO_0019249	mucopolysaccharidosis		A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.
http://purl.obolibrary.org/obo/MONDO_0018948	multiminicore myopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
http://purl.obolibrary.org/obo/MONDO_0018964	homocystinuria without methylmalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).
http://purl.obolibrary.org/obo/MONDO_0018982	Niemann-Pick disease type C	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0044765	steroid-resistant nephrotic syndrome		Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.
http://purl.obolibrary.org/obo/MONDO_0019010	congenital isolated hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0017182	familial hyperinsulinism		Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.
http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.
http://purl.obolibrary.org/obo/MONDO_0019027	otopalatodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0018233	otopalatodigital syndrome spectrum disorder		A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.
http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder	http://purl.obolibrary.org/obo/MONDO_7770009	disease of genetic or genomic mechanism		Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
http://purl.obolibrary.org/obo/MONDO_0019071	pure hair and nail ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0019111	familial thrombocytosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.
http://purl.obolibrary.org/obo/MONDO_0019169	pyruvate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0016789	pyruvate metabolism disorder		A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.
http://purl.obolibrary.org/obo/MONDO_0019237	inborn disorder of pyridoxine metabolism	http://purl.obolibrary.org/obo/MONDO_0019250	inborn disorder of biogenic amine metabolism and transport		An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019239	inborn disorder of serine family metabolism	http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism		An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019306	congenital non-bullous ichthyosiform erythroderma	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
http://purl.obolibrary.org/obo/MONDO_0019351	isolated spina bifida	http://purl.obolibrary.org/obo/MONDO_0008449	spina bifida		A spina bifida (disease) that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0019358	encephalopathy due to sulfite oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
http://purl.obolibrary.org/obo/MONDO_0019448	benign adult familial myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic		Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.
http://purl.obolibrary.org/obo/MONDO_0019460	acute leukemia of ambiguous lineage	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0019518	Waardenburg-Shah syndrome	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.
http://purl.obolibrary.org/obo/MONDO_0019524	Bartter syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0015231	Bartter syndrome		A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.
http://purl.obolibrary.org/obo/MONDO_0019642	vitamin D-dependent rickets, type 2	http://purl.obolibrary.org/obo/MONDO_0024299	vitamin D-dependent rickets		Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.
http://purl.obolibrary.org/obo/MONDO_0019851	acquired primary ovarian failure	http://purl.obolibrary.org/obo/MONDO_0005387	primary ovarian failure		An instance of primary ovarian failure that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0020070	neonatal epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome		An epilepsy syndrome that has an onset during the neonatal stage of life.
http://purl.obolibrary.org/obo/MONDO_0020123	metabolic myopathy	http://purl.obolibrary.org/obo/MONDO_0005336	myopathy		A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.
http://purl.obolibrary.org/obo/MONDO_0020129	acquired motor neuron disease	http://purl.obolibrary.org/obo/MONDO_0020128	motor neuron disorder		An instance of motor neuron disease that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0020257	supranuclear oculomotor palsy	http://purl.obolibrary.org/obo/MONDO_0001309	oculomotor nerve paralysis		Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.
http://purl.obolibrary.org/obo/MONDO_0020488	atypical progressive supranuclear palsy syndrome	http://purl.obolibrary.org/obo/MONDO_0019037	progressive supranuclear palsy		Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).
http://purl.obolibrary.org/obo/MONDO_0020491	subcortical band heterotopia	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		A developmental brain abnormality characterized by atypical migration of neurons during cortical development.
http://purl.obolibrary.org/obo/MONDO_0020504	hereditary recurrent myoglobinuria	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
http://purl.obolibrary.org/obo/MONDO_0021029	hereditary sebaceous gland anomaly	http://purl.obolibrary.org/obo/MONDO_0021026	hereditary epidermal appendage anomaly		An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0021040	pancreatic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A benign or malignant neoplasm involving the pancreas.
http://purl.obolibrary.org/obo/MONDO_0016577	biliary atresia with splenic malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.
http://purl.obolibrary.org/obo/MONDO_0016586	systemic mastocytosis	http://purl.obolibrary.org/obo/MONDO_0007950	mastocytosis		Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.
http://purl.obolibrary.org/obo/MONDO_0016591	sporadic adult-onset ataxia of unknown etiology	http://purl.obolibrary.org/obo/MONDO_0016593	acquired ataxia		Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.
http://purl.obolibrary.org/obo/MONDO_0016593	acquired ataxia	http://purl.obolibrary.org/obo/MONDO_0100308	atactic disorder		A type of ataxia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0016594	superficial siderosis	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.
http://purl.obolibrary.org/obo/MONDO_0016600	acute neonatal citrullinemia type I	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
http://purl.obolibrary.org/obo/MONDO_0016601	adult-onset citrullinemia type I	http://purl.obolibrary.org/obo/MONDO_0008988	citrullinemia type I		Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
http://purl.obolibrary.org/obo/MONDO_0016605	perinatal lethal hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0100609	ALPL-related autosomal recessive hypophosphatasia		A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
http://purl.obolibrary.org/obo/MONDO_0016607	odontohypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia		A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. It can inherited via either autosomal dominant or autosomal recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_0016609	inflammatory myopathy with abundant macrophages	http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy		Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.
http://purl.obolibrary.org/obo/MONDO_0016625	acquired deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0001639	deficiency anemia		An instance of deficiency anemia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0016630	isolated delta-storage pool disease	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.
http://purl.obolibrary.org/obo/MONDO_0016646	autosomal dominant optic atrophy and peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
http://purl.obolibrary.org/obo/MONDO_0016650	paternal uniparental disomy of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
http://purl.obolibrary.org/obo/MONDO_0016651	maternal uniparental disomy of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
http://purl.obolibrary.org/obo/MONDO_0016652	2q31.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2		2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
http://purl.obolibrary.org/obo/MONDO_0016653	2q33.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2		2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.
http://purl.obolibrary.org/obo/MONDO_0016655	6p22 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016888	partial deletion of the short arm of chromosome 6		6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.
http://purl.obolibrary.org/obo/MONDO_0016657	8p11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016890	partial deletion of the short arm of chromosome 8		8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
http://purl.obolibrary.org/obo/MONDO_0016662	idiopathic recurrent pericarditis	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.
http://purl.obolibrary.org/obo/MONDO_0016664	drug-induced vasculitis	http://purl.obolibrary.org/obo/MONDO_0018640	secondary vasculitis		A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.
http://purl.obolibrary.org/obo/MONDO_0016668	sickle cell-beta-thalassemia disease syndrome	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016669	sickle cell-hemoglobin c disease syndrome	http://purl.obolibrary.org/obo/MONDO_0011382	sickle cell disease		A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.
http://purl.obolibrary.org/obo/MONDO_0016670	sickle cell-hemoglobin d disease syndrome	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.
http://purl.obolibrary.org/obo/MONDO_0016671	sickle cell-hemoglobin E disease syndrome	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).
http://purl.obolibrary.org/obo/MONDO_0016672	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF.
http://purl.obolibrary.org/obo/MONDO_0016680	high grade astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0100342	malignant glioma		An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).
http://purl.obolibrary.org/obo/MONDO_0016684	anaplastic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0020633	anaplastic cancer		Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.
http://purl.obolibrary.org/obo/MONDO_0016686	diffuse astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016685	low-grade astrocytoma		A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.
http://purl.obolibrary.org/obo/MONDO_0016698	ependymoma	http://purl.obolibrary.org/obo/MONDO_0021639	grade II glioma		A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)
http://purl.obolibrary.org/obo/MONDO_0016705	angiocentric glioma	http://purl.obolibrary.org/obo/MONDO_0021637	low grade glioma		Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.
http://purl.obolibrary.org/obo/MONDO_0016709	anaplastic/large cell medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0016710	medulloblastoma with extensive nodularity	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.
http://purl.obolibrary.org/obo/MONDO_0016711	desmoplastic/nodular medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.
http://purl.obolibrary.org/obo/MONDO_0016712	classic medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.
http://purl.obolibrary.org/obo/MONDO_0016719	microcephaly-seizures-intellectual disability-heart disease syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.
http://purl.obolibrary.org/obo/MONDO_0016724	papillary tumor of the pineal region	http://purl.obolibrary.org/obo/MONDO_0021232	pineal body neoplasm		Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.
http://purl.obolibrary.org/obo/MONDO_0016727	extraventricular neurocytoma	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.
http://purl.obolibrary.org/obo/MONDO_0016731	desmoplastic infantile astrocytoma/ganglioglioma	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.
http://purl.obolibrary.org/obo/MONDO_0016735	papillary glioneuronal tumor	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.
http://purl.obolibrary.org/obo/MONDO_0016736	rosette-forming glioneuronal tumor of fourth ventricule	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.
http://purl.obolibrary.org/obo/MONDO_0016739	yolk sac tumor of central nervous system	http://purl.obolibrary.org/obo/MONDO_0005744	yolk sac tumor		A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)
http://purl.obolibrary.org/obo/MONDO_0016740	choriocarcinoma of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0020574	central nervous system nongerminomatous germ cell tumor		A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)
http://purl.obolibrary.org/obo/MONDO_0016742	mixed germ cell tumor of central nervous system	http://purl.obolibrary.org/obo/MONDO_0003000	central nervous system germ cell tumor		A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.
http://purl.obolibrary.org/obo/MONDO_0016743	tumor of meninges	http://purl.obolibrary.org/obo/MONDO_0006130	central nervous system neoplasm		A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.
http://purl.obolibrary.org/obo/MONDO_0016745	diffuse leptomeningeal melanocytosis	http://purl.obolibrary.org/obo/MONDO_0016743	tumor of meninges		Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial hemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.
http://purl.obolibrary.org/obo/MONDO_0016751	malignant perineurioma	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.
http://purl.obolibrary.org/obo/MONDO_0016758	microcephaly-brain defect-spasticity-hypernatremia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.
http://purl.obolibrary.org/obo/MONDO_0016762	microcornea-corectopia-macular hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.
http://purl.obolibrary.org/obo/MONDO_0016777	inhalational botulism	http://purl.obolibrary.org/obo/MONDO_0005498	botulism		Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).
http://purl.obolibrary.org/obo/MONDO_0016778	iatrogenic botulism	http://purl.obolibrary.org/obo/MONDO_0043544	nosocomial infection		Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.
http://purl.obolibrary.org/obo/MONDO_0016786	partial hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0006248	hydatidiform mole		Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.
http://purl.obolibrary.org/obo/MONDO_0016787	epithelioid trophoblastic tumor	http://purl.obolibrary.org/obo/MONDO_0018944	gestational trophoblastic neoplasm		An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.
http://purl.obolibrary.org/obo/MONDO_0016806	maternally-inherited mitochondrial dystonia	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.
http://purl.obolibrary.org/obo/MONDO_0016807	pure mitochondrial myopathy	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.
http://purl.obolibrary.org/obo/MONDO_0016809	spinocerebellar ataxia with epilepsy	http://purl.obolibrary.org/obo/MONDO_0011835	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.
http://purl.obolibrary.org/obo/MONDO_0016811	renal tubulopathy-encephalopathy-liver failure syndrome	http://purl.obolibrary.org/obo/MONDO_0007415	mitochondrial complex III deficiency nuclear type 1		Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.
http://purl.obolibrary.org/obo/MONDO_0016818	Mikati-Najjar-Sahli syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).
http://purl.obolibrary.org/obo/MONDO_0016819	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.
http://purl.obolibrary.org/obo/MONDO_0016822	myalgia-eosinophilia syndrome associated with tryptophan	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.
http://purl.obolibrary.org/obo/MONDO_0016823	mycetoma	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.
http://purl.obolibrary.org/obo/MONDO_0016825	mitochondrial myopathy-lactic acidosis-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.
http://purl.obolibrary.org/obo/MONDO_0016829	familial visceral myopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.
http://purl.obolibrary.org/obo/MONDO_0016832	distal 7q11.23 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0012342	7q11.23 microduplication syndrome		Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
http://purl.obolibrary.org/obo/MONDO_0016833	14q12 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016912	partial deletion of the long arm of chromosome 14		14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
http://purl.obolibrary.org/obo/MONDO_0016834	16p11.2p12.2 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016949	partial duplication of the short arm of chromosome 16		16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.
http://purl.obolibrary.org/obo/MONDO_0016835	14q11.2 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016964	partial duplication of the long arm of chromosome 14		14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.
http://purl.obolibrary.org/obo/MONDO_0016836	16p13.11 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016894	partial deletion of the short arm of chromosome 16		16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
http://purl.obolibrary.org/obo/MONDO_0016839	distal 17p13.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0022754	chromosome 17p deletion		Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.
http://purl.obolibrary.org/obo/MONDO_0016842	paternal 20q13.2q13.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016918	partial deletion of the long arm of chromosome 20		Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0016843	20q13.33 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016918	partial deletion of the long arm of chromosome 20		20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.
http://purl.obolibrary.org/obo/MONDO_0016846	distal 22q11.2 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0012020	chromosome 22q11.2 microduplication syndrome		Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.
http://purl.obolibrary.org/obo/MONDO_0016847	trisomy 1q	http://purl.obolibrary.org/obo/MONDO_0016952	partial duplication of the long arm of chromosome 1		Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.
http://purl.obolibrary.org/obo/MONDO_0016850	atypical Norrie disease due to monosomy Xp11.3	http://purl.obolibrary.org/obo/MONDO_0017004	partial monosomy of the short arm of chromosome X		Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.
http://purl.obolibrary.org/obo/MONDO_0016853	ring chromosome Y	http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder		Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.
http://purl.obolibrary.org/obo/MONDO_0016857	blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome	http://purl.obolibrary.org/obo/MONDO_0016902	partial deletion of the long arm of chromosome 3		Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.
http://purl.obolibrary.org/obo/MONDO_0016858	blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome	http://purl.obolibrary.org/obo/MONDO_0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome		Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.
http://purl.obolibrary.org/obo/MONDO_0016859	blepharophimosis-epicanthus inversus-ptosis due to copy number variations	http://purl.obolibrary.org/obo/MONDO_0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome		Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.
http://purl.obolibrary.org/obo/MONDO_0016862	Alagille syndrome due to a JAG1 point mutation	http://purl.obolibrary.org/obo/MONDO_0007318	Alagille syndrome		Any Alagille syndrome due to a variation in the JAG1 gene that affects many organ systems including the liver, heart, skeleton, eyes and kidneys.
http://purl.obolibrary.org/obo/MONDO_0016889	partial deletion of the short arm of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0016872	partial deletion of chromosome 7		Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016936	partial trisomy/tetrasomy of chromosome 18	http://purl.obolibrary.org/obo/MONDO_0700125	chromosome 18 disorder		A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.
http://purl.obolibrary.org/obo/MONDO_0016939	partial duplication of the short arm of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0016922	partial duplication of chromosome 2		Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016940	partial duplication of the short arm of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0016923	partial duplication of chromosome 3		Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016945	partial duplication of the short arm of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0016929	partial duplication of chromosome 8		Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016953	partial duplication of the long arm of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0016922	partial duplication of chromosome 2		Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016955	partial duplication of the long arm of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0016924	partial duplication of chromosome 4		Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016957	partial duplication of the long arm of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016927	partial duplication of chromosome 6		Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016974	thymoma type B	http://purl.obolibrary.org/obo/MONDO_0006456	thymoma		An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma.
http://purl.obolibrary.org/obo/MONDO_0016979	MRCS syndrome	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.
http://purl.obolibrary.org/obo/MONDO_0016983	Bartter syndrome with hypocalcemia	http://purl.obolibrary.org/obo/MONDO_0015231	Bartter syndrome		Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)
http://purl.obolibrary.org/obo/MONDO_0016986	congenital smooth muscle hamartoma	http://purl.obolibrary.org/obo/MONDO_0006499	hamartoma		Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.
http://purl.obolibrary.org/obo/MONDO_0016988	hyperinsulinism due to HNF4A deficiency	http://purl.obolibrary.org/obo/MONDO_0015624	diazoxide-sensitive diffuse hyperinsulinism		Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).
http://purl.obolibrary.org/obo/MONDO_0016989	Fuchs heterochromic iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0017634	non-infectious anterior uveitis		Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.
http://purl.obolibrary.org/obo/MONDO_0016996	NK-cell enteropathy	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.
http://purl.obolibrary.org/obo/MONDO_0017014	interstitial lung disease specific to childhood	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		A interstitial lung disease that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0017018	isolated pulmonary capillaritis	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.
http://purl.obolibrary.org/obo/MONDO_0017029	Langerhans cell histiocytosis specific to adulthood	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		Langerhans cell histiocytosis that occurs during adulthood.
http://purl.obolibrary.org/obo/MONDO_0017041	osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.
http://purl.obolibrary.org/obo/MONDO_0017044	adult familial nephronophthisis-spastic quadriparesia syndrome	http://purl.obolibrary.org/obo/MONDO_0019741	familial cystic renal disease		This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.
http://purl.obolibrary.org/obo/MONDO_0017050	intraocular medulloepithelioma	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disk, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.
http://purl.obolibrary.org/obo/MONDO_0017051	classic maple syrup urine disease	http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease		Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
http://purl.obolibrary.org/obo/MONDO_0017053	intermittent maple syrup urine disease	http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease		Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
http://purl.obolibrary.org/obo/MONDO_0017054	thiamine-responsive maple syrup urine disease	http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease		Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.
http://purl.obolibrary.org/obo/MONDO_0017055	mycophenolate mofetil embryopathy	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.
http://purl.obolibrary.org/obo/MONDO_0017076	posterior meningocele	http://purl.obolibrary.org/obo/MONDO_0017069	spina bifida cystica		Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.
http://purl.obolibrary.org/obo/MONDO_0017079	meningoencephalocele	http://purl.obolibrary.org/obo/MONDO_0017078	cephalocele		A congenital abnormality in which the meninges protrude through a defect in the cranium.
http://purl.obolibrary.org/obo/MONDO_0017084	leptomyelolipoma	http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect		Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.
http://purl.obolibrary.org/obo/MONDO_0017086	primary tethered cord syndrome	http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect		Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.
http://purl.obolibrary.org/obo/MONDO_0017089	isolated megalencephaly	http://purl.obolibrary.org/obo/MONDO_0016608	megalencephaly		A megalencephaly (disease) that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0017093	unilateral focal polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0017092	unilateral polymicrogyria		Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.
http://purl.obolibrary.org/obo/MONDO_0017100	neutropenia-monocytopenia-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0015134	constitutional neutropenia		Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.
http://purl.obolibrary.org/obo/MONDO_0017105	glioependymal/ependymal cyst	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).
http://purl.obolibrary.org/obo/MONDO_0017112	isolated unilateral hemispheric cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.
http://purl.obolibrary.org/obo/MONDO_0017113	isolated bilateral hemispheric cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.
http://purl.obolibrary.org/obo/MONDO_0017134	odonto-onycho dysplasia-alopecia syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.
http://purl.obolibrary.org/obo/MONDO_0017135	olivopontocerebellar atrophy-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
http://purl.obolibrary.org/obo/MONDO_0017148	heritable pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
http://purl.obolibrary.org/obo/MONDO_0017149	drug- or toxin-induced pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0015924	pulmonary arterial hypertension		Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.
http://purl.obolibrary.org/obo/MONDO_0017162	imperforate oropharynx-costo vetebral anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
http://purl.obolibrary.org/obo/MONDO_0017165	bile acid CoA ligase deficiency and defective amidation	http://purl.obolibrary.org/obo/MONDO_0019218	inborn disorder of bile acid synthesis		Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.
http://purl.obolibrary.org/obo/MONDO_0017170	idiopathic recurrent stupor	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.
http://purl.obolibrary.org/obo/MONDO_0017174	Machado-Joseph disease type 1	http://purl.obolibrary.org/obo/MONDO_0007182	Machado-Joseph disease		Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.
http://purl.obolibrary.org/obo/MONDO_0017175	Machado-Joseph disease type 2	http://purl.obolibrary.org/obo/MONDO_0007182	Machado-Joseph disease		Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
http://purl.obolibrary.org/obo/MONDO_0017176	Machado-Joseph disease type 3	http://purl.obolibrary.org/obo/MONDO_0007182	Machado-Joseph disease		Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.
http://purl.obolibrary.org/obo/MONDO_0017177	hemihyperplasia-multiple lipomatosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.
http://purl.obolibrary.org/obo/MONDO_0017179	limbic encephalitis with caspr2 antibodies	http://purl.obolibrary.org/obo/MONDO_0015588	limbic encephalitis		Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.
http://purl.obolibrary.org/obo/MONDO_0017183	hyperinsulinism due to UCP2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015624	diazoxide-sensitive diffuse hyperinsulinism		HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
http://purl.obolibrary.org/obo/MONDO_0017184	autosomal dominant hyperinsulinism due to SUR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015624	diazoxide-sensitive diffuse hyperinsulinism		Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).
http://purl.obolibrary.org/obo/MONDO_0017185	autosomal dominant hyperinsulinism due to Kir6.2 deficiency	http://purl.obolibrary.org/obo/MONDO_0011153	hyperinsulinemic hypoglycemia, familial, 2		Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
http://purl.obolibrary.org/obo/MONDO_0017189	adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	http://purl.obolibrary.org/obo/MONDO_0017182	familial hyperinsulinism		Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide
http://purl.obolibrary.org/obo/MONDO_0017190	sporadic pheochromocytoma/secreting paraganglioma	http://purl.obolibrary.org/obo/MONDO_0000448	paraganglioma		Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.
http://purl.obolibrary.org/obo/MONDO_0017196	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.
http://purl.obolibrary.org/obo/MONDO_0017199	osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.
http://purl.obolibrary.org/obo/MONDO_0017201	Spasmus nutans	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.
http://purl.obolibrary.org/obo/MONDO_0017204	toxic maculopathy due to antimalarial drugs	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.
http://purl.obolibrary.org/obo/MONDO_0017205	primary oculocerebral lymphoma	http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma		Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.
http://purl.obolibrary.org/obo/MONDO_0017216	calciphylaxis cutis	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.
http://purl.obolibrary.org/obo/MONDO_0017217	visceral calciphylaxis	http://purl.obolibrary.org/obo/MONDO_0017215	calciphylaxis		Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.
http://purl.obolibrary.org/obo/MONDO_0017220	laryngotracheoesophageal cleft type 0	http://purl.obolibrary.org/obo/MONDO_0016060	laryngotracheoesophageal cleft		Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.
http://purl.obolibrary.org/obo/MONDO_0017221	Pelizaeus-Merzbacher disease, connatal form	http://purl.obolibrary.org/obo/MONDO_0010714	Pelizaeus-Merzbacher spectrum disorder		The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.
http://purl.obolibrary.org/obo/MONDO_0017222	Pelizaeus-Merzbacher disease, classic form	http://purl.obolibrary.org/obo/MONDO_0010714	Pelizaeus-Merzbacher spectrum disorder		The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.
http://purl.obolibrary.org/obo/MONDO_0017223	Pelizaeus-Merzbacher disease, transitional form	http://purl.obolibrary.org/obo/MONDO_0010714	Pelizaeus-Merzbacher spectrum disorder		The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.
http://purl.obolibrary.org/obo/MONDO_0017224	Pelizaeus-Merzbacher disease in female carriers	http://purl.obolibrary.org/obo/MONDO_0010714	Pelizaeus-Merzbacher spectrum disorder		Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).
http://purl.obolibrary.org/obo/MONDO_0017225	null syndrome	http://purl.obolibrary.org/obo/MONDO_0010714	Pelizaeus-Merzbacher spectrum disorder		The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0017227	autoimmune pancreatitis type 1	http://purl.obolibrary.org/obo/MONDO_0015175	autoimmune pancreatitis		Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.
http://purl.obolibrary.org/obo/MONDO_0017228	autoimmune pancreatitis type 2	http://purl.obolibrary.org/obo/MONDO_0015175	autoimmune pancreatitis		Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.
http://purl.obolibrary.org/obo/MONDO_0017229	distal monosomy 12p	http://purl.obolibrary.org/obo/MONDO_0022174	chromosome 12p deletion		Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.
http://purl.obolibrary.org/obo/MONDO_0017232	recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.
http://purl.obolibrary.org/obo/MONDO_0017235	familial omphalocele syndrome with facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
http://purl.obolibrary.org/obo/MONDO_0017239	familial progressive hyper- and hypopigmentation	http://purl.obolibrary.org/obo/MONDO_0007771	hyperpigmentation with or without hypopigmentation, familial progressive		Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.
http://purl.obolibrary.org/obo/MONDO_0017242	cutaneous collagenous vasculopathy	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.
http://purl.obolibrary.org/obo/MONDO_0017243	bullous diffuse cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0019315	diffuse cutaneous mastocytosis		Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.
http://purl.obolibrary.org/obo/MONDO_0017244	pseudoxanthomatous diffuse cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0019315	diffuse cutaneous mastocytosis		Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.
http://purl.obolibrary.org/obo/MONDO_0017257	idiopathic posterior uveitis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.
http://purl.obolibrary.org/obo/MONDO_0017258	idiopathic panuveitis	http://purl.obolibrary.org/obo/MONDO_0017255	panuveitis		Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.
http://purl.obolibrary.org/obo/MONDO_0017264	syndromic recessive X-linked ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017269	X-linked ichthyosis syndrome		Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.
http://purl.obolibrary.org/obo/MONDO_0017268	acral self-healing collodion baby	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.
http://purl.obolibrary.org/obo/MONDO_0017292	well-differentiated fetal adenocarcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0005606	tubular adenocarcinoma		Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.
http://purl.obolibrary.org/obo/MONDO_0017294	glycerol kinase deficiency, infantile form	http://purl.obolibrary.org/obo/MONDO_0010613	inborn glycerol kinase deficiency		Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.
http://purl.obolibrary.org/obo/MONDO_0017295	glycerol kinase deficiency, juvenile form	http://purl.obolibrary.org/obo/MONDO_0018459	isolated glycerol kinase deficiency		Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.
http://purl.obolibrary.org/obo/MONDO_0017296	glycerol kinase deficiency, adult form	http://purl.obolibrary.org/obo/MONDO_0018459	isolated glycerol kinase deficiency		Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.
http://purl.obolibrary.org/obo/MONDO_0017300	congenital pericardium anomaly	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).
http://purl.obolibrary.org/obo/MONDO_0017301	pericardial and diaphragmatic defect	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.
http://purl.obolibrary.org/obo/MONDO_0017309	neonatal Marfan syndrome	http://purl.obolibrary.org/obo/MONDO_0007947	Marfan syndrome		Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.
http://purl.obolibrary.org/obo/MONDO_0017316	short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).
http://purl.obolibrary.org/obo/MONDO_0017317	phakomatosis pigmentokeratotica	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.
http://purl.obolibrary.org/obo/MONDO_0017321	pili torti-onychodysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0017325	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	http://purl.obolibrary.org/obo/MONDO_1060139	GRIN2A-related complex neurodevelopmental disorder		A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
http://purl.obolibrary.org/obo/MONDO_0017326	infective dermatitis associated with HTLV-1	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.
http://purl.obolibrary.org/obo/MONDO_0017327	primary non-gestational choriocarcinoma of ovary	http://purl.obolibrary.org/obo/MONDO_0018171	malignant germ cell tumor of ovary		Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.
http://purl.obolibrary.org/obo/MONDO_0017334	12q15q21.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016877	partial deletion of the long arm of chromosome 12		12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.
http://purl.obolibrary.org/obo/MONDO_0017335	microtriplication 11q24.1	http://purl.obolibrary.org/obo/MONDO_0022173	chromosome 11q trisomy		Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.
http://purl.obolibrary.org/obo/MONDO_0017337	inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015129	chronic primary adrenal insufficiency		Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.
http://purl.obolibrary.org/obo/MONDO_0017340	juvenile nasopharyngeal angiofibroma	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.
http://purl.obolibrary.org/obo/MONDO_0017346	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder		A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.
http://purl.obolibrary.org/obo/MONDO_0017348	lymphoepithelial-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0017344	Epstein-Barr virus-associated carcinoma		Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.
http://purl.obolibrary.org/obo/MONDO_0017349	myopericytoma	http://purl.obolibrary.org/obo/MONDO_0017345	Epstein-Barr virus-associated mesenchymal tumor		A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.
http://purl.obolibrary.org/obo/MONDO_0017353	neonatal glycine encephalopathy	http://purl.obolibrary.org/obo/MONDO_0011612	glycine encephalopathy		Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.
http://purl.obolibrary.org/obo/MONDO_0017354	infantile glycine encephalopathy	http://purl.obolibrary.org/obo/MONDO_0011612	glycine encephalopathy		Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.
http://purl.obolibrary.org/obo/MONDO_0017360	vitamin B12-unresponsive methylmalonic acidemia type mut0	http://purl.obolibrary.org/obo/MONDO_0009612	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
http://purl.obolibrary.org/obo/MONDO_0017373	poliomyelitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.
http://purl.obolibrary.org/obo/MONDO_0017375	congenital enterovirus infection	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.
http://purl.obolibrary.org/obo/MONDO_0017379	polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.
http://purl.obolibrary.org/obo/MONDO_0017381	congenital herpes simplex virus infection	http://purl.obolibrary.org/obo/MONDO_0042971	congenital herpes virus infection		Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent fetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.
http://purl.obolibrary.org/obo/MONDO_0017388	celiac trunk compression syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.
http://purl.obolibrary.org/obo/MONDO_0017389	tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0009861	phenylketonuria		Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.
http://purl.obolibrary.org/obo/MONDO_0017391	Grayson-Wilbrandt corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.
http://purl.obolibrary.org/obo/MONDO_0017392	pre-descemet corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy		Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.
http://purl.obolibrary.org/obo/MONDO_0017394	ketamine-induced biliary dilatation	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.
http://purl.obolibrary.org/obo/MONDO_0017399	frontotemporal dementia, right temporal atrophy variant	http://purl.obolibrary.org/obo/MONDO_0010857	semantic dementia		Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.
http://purl.obolibrary.org/obo/MONDO_0017404	distal Xq28 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010436	chromosome Xq28 duplication syndrome		Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0017405	1p21.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016883	partial deletion of the short arm of chromosome 1		1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.
http://purl.obolibrary.org/obo/MONDO_0017408	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.
http://purl.obolibrary.org/obo/MONDO_0017409	fetal cytomegalovirus syndrome	http://purl.obolibrary.org/obo/MONDO_0042971	congenital herpes virus infection		An infection with the Cytomegalovirus that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0017416	postpoliomyelitis syndrome	http://purl.obolibrary.org/obo/MONDO_0017373	poliomyelitis		Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.
http://purl.obolibrary.org/obo/MONDO_0017418	chronic intestinal failure	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).
http://purl.obolibrary.org/obo/MONDO_0017419	non-syndromic amelia	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		A congenital malformation characterized by the complete absence of all limbs.
http://purl.obolibrary.org/obo/MONDO_0017437	amelia of upper limb	http://purl.obolibrary.org/obo/MONDO_0017419	non-syndromic amelia		A non-syndromic amelia that involves the forelimb.
http://purl.obolibrary.org/obo/MONDO_0017438	amelia of lower limb	http://purl.obolibrary.org/obo/MONDO_0017419	non-syndromic amelia		A non-syndromic amelia that involves the hindlimb.
http://purl.obolibrary.org/obo/MONDO_0017440	humeral agenesis/hypoplasia	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.
http://purl.obolibrary.org/obo/MONDO_0017441	congenital absence of upper arm and forearm with hand present	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A congenital malformation in which the upper portion of a limb is either shortened or absent.
http://purl.obolibrary.org/obo/MONDO_0017443	congenital absence of both forearm and hand	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.
http://purl.obolibrary.org/obo/MONDO_0017449	split hand	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.
http://purl.obolibrary.org/obo/MONDO_0017451	non-syndromic brachydactyly of fingers	http://purl.obolibrary.org/obo/MONDO_0017424	non-syndromic brachydactyly		A non-syndromic brachydactyly that involves the manus.
http://purl.obolibrary.org/obo/MONDO_0017452	non-syndromic brachydactyly of toes	http://purl.obolibrary.org/obo/MONDO_0017424	non-syndromic brachydactyly		A non-syndromic brachydactyly that involves the pes.
http://purl.obolibrary.org/obo/MONDO_0017454	triphalangeal thumb-polysyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.
http://purl.obolibrary.org/obo/MONDO_0017455	hyperphalangy	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.
http://purl.obolibrary.org/obo/MONDO_0017460	syndactyly type 6	http://purl.obolibrary.org/obo/MONDO_0019530	non-syndromic syndactyly		Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.
http://purl.obolibrary.org/obo/MONDO_0017461	familial isolated clinodactyly of fingers	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.
http://purl.obolibrary.org/obo/MONDO_0017462	congenital pseudoarthrosis of the tibia	http://purl.obolibrary.org/obo/MONDO_0015525	congenital pseudoarthrosis of the limbs		A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.
http://purl.obolibrary.org/obo/MONDO_0017467	tibio-fibular synostosis	http://purl.obolibrary.org/obo/MONDO_0001411	synostosis		Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.
http://purl.obolibrary.org/obo/MONDO_0017477	lower limb hypertrophy	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.
http://purl.obolibrary.org/obo/MONDO_0017498	congenital absence of both forearm and hand, unilateral	http://purl.obolibrary.org/obo/MONDO_0017443	congenital absence of both forearm and hand		Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.
http://purl.obolibrary.org/obo/MONDO_0017499	congenital absence of both forearm and hand, bilateral	http://purl.obolibrary.org/obo/MONDO_0017443	congenital absence of both forearm and hand		Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.
http://purl.obolibrary.org/obo/MONDO_0017511	split hand, unilateral	http://purl.obolibrary.org/obo/MONDO_0017449	split hand		Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.
http://purl.obolibrary.org/obo/MONDO_0017512	split hand, bilateral	http://purl.obolibrary.org/obo/MONDO_0017449	split hand		Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.
http://purl.obolibrary.org/obo/MONDO_0017560	congenital genu recurvatum	http://purl.obolibrary.org/obo/MONDO_0017470	congenital knee dislocation		An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.
http://purl.obolibrary.org/obo/MONDO_0017568	Prata-Liberal-Goncalves syndrome	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.
http://purl.obolibrary.org/obo/MONDO_0017571	Proteus-like syndrome	http://purl.obolibrary.org/obo/MONDO_0017623	PTEN hamartoma tumor syndrome		Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.
http://purl.obolibrary.org/obo/MONDO_0017573	46,XX disorder of sex development-anorectal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0017576	46,XX disorder of sex development		46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.
http://purl.obolibrary.org/obo/MONDO_0017575	mitochondrial neurogastrointestinal encephalomyopathy	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
http://purl.obolibrary.org/obo/MONDO_0017580	11p15.4 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016948	partial duplication of the short arm of chromosome 11		11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
http://purl.obolibrary.org/obo/MONDO_0017583	mirror polydactyly-vertebral segmentation-limbs defects syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.
http://purl.obolibrary.org/obo/MONDO_0017584	Sagliker syndrome	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face
http://purl.obolibrary.org/obo/MONDO_0017587	onychomatricoma	http://purl.obolibrary.org/obo/MONDO_0017588	nail tumor		A neoplasm involving a UBERON:0002283.
http://purl.obolibrary.org/obo/MONDO_0017588	nail tumor	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A neoplasm involving a nail.
http://purl.obolibrary.org/obo/MONDO_0017589	follicular cholangitis and pancreatitis	http://purl.obolibrary.org/obo/MONDO_0004868	biliary tract disorder		Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.
http://purl.obolibrary.org/obo/MONDO_0017596	diffuse large B-cell lymphoma of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0044887	central nervous system non-hodgkin lymphoma		A diffuse large B-cell lymphoma arising from the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0017599	splenic diffuse red pulp small B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017604	marginal zone lymphoma		Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.
http://purl.obolibrary.org/obo/MONDO_0017600	hairy cell leukemia variant	http://purl.obolibrary.org/obo/MONDO_0018935	hairy cell leukemia		Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C).
http://purl.obolibrary.org/obo/MONDO_0017601	diffuse large B-cell lymphoma with chronic inflammation	http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder		An Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.
http://purl.obolibrary.org/obo/MONDO_0017602	ALK-positive anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020325	anaplastic large cell lymphoma		ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).
http://purl.obolibrary.org/obo/MONDO_0017603	ALK-negative anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020325	anaplastic large cell lymphoma		ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).
http://purl.obolibrary.org/obo/MONDO_0017607	caudal regression sequence	http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect		Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.
http://purl.obolibrary.org/obo/MONDO_0017611	pituitary tumor	http://purl.obolibrary.org/obo/MONDO_0006799	hypothalamic neoplasm		A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.
http://purl.obolibrary.org/obo/MONDO_0017617	acquired adult-onset immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0017769	acquired immunodeficiency		A acquired immunodeficiency that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0017630	X-linked complicated spastic paraplegia type 1	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.
http://purl.obolibrary.org/obo/MONDO_0017636	hemiparkinsonism-hemiatrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.
http://purl.obolibrary.org/obo/MONDO_0017640	cyanide-induced parkinsonism	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.
http://purl.obolibrary.org/obo/MONDO_0017648	Sydenham chorea	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.
http://purl.obolibrary.org/obo/MONDO_0017649	hemidystonia-hemiatrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0003441	dystonic disorder		Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.
http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma		Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.
http://purl.obolibrary.org/obo/MONDO_0017668	intellectual disability-short stature-hypertelorism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.
http://purl.obolibrary.org/obo/MONDO_0017694	glycogen storage disease due to acid maltase deficiency, infantile onset	http://purl.obolibrary.org/obo/MONDO_0009290	glycogen storage disease II		Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
http://purl.obolibrary.org/obo/MONDO_0017712	combined pancreatic lipase-colipase deficiency	http://purl.obolibrary.org/obo/MONDO_0013700	pancreatic triacylglycerol lipase deficiency		A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.
http://purl.obolibrary.org/obo/MONDO_0017723	Sandhoff disease, adult form	http://purl.obolibrary.org/obo/MONDO_0010006	Sandhoff disease		A Sandhoff disease that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0017727	fixed subaortic stenosis	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.
http://purl.obolibrary.org/obo/MONDO_0017741	disorder of protein O-glycosylation	http://purl.obolibrary.org/obo/MONDO_0045010	glycoprotein metabolism disease		A disease that has its basis in the disruption of protein O-linked glycosylation.
http://purl.obolibrary.org/obo/MONDO_0017765	disorder of magnesium transport	http://purl.obolibrary.org/obo/MONDO_0017761	disorder of mineral absorption and transport		An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.
http://purl.obolibrary.org/obo/MONDO_0017780	20p13 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016898	partial monosomy of the short arm of chromosome 20		20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.
http://purl.obolibrary.org/obo/MONDO_0017782	developmental and speech delay due to SOX5 deficiency	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).
http://purl.obolibrary.org/obo/MONDO_0017784	Epstein-Barr virus-associated gastric carcinoma	http://purl.obolibrary.org/obo/MONDO_0017344	Epstein-Barr virus-associated carcinoma		Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.
http://purl.obolibrary.org/obo/MONDO_0017785	PENS syndrome	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.
http://purl.obolibrary.org/obo/MONDO_0017786	2q23.1 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016953	partial duplication of the long arm of chromosome 2		2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
http://purl.obolibrary.org/obo/MONDO_0017789	idiopathic linear interstitial keratitis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.
http://purl.obolibrary.org/obo/MONDO_0017790	gastric adenocarcinoma and proximal polyposis of the stomach	http://purl.obolibrary.org/obo/MONDO_0000147	polyposis		An autosomal dominant disorder caused by specific pathogenic variants in the APC gene promoter, characterized by proximal gastric polyposis and an increased risk of gastric adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0017792	7p22.1 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016944	partial duplication of the short arm of chromosome 7		7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.
http://purl.obolibrary.org/obo/MONDO_0017794	Xq12-q13.3 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0017010	partial duplication of the long arm of chromosome X		Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
http://purl.obolibrary.org/obo/MONDO_0017802	ovarian fibrothecoma	http://purl.obolibrary.org/obo/MONDO_0024387	benign ovarian sex cord-stromal tumor		A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).
http://purl.obolibrary.org/obo/MONDO_0017804	autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.
http://purl.obolibrary.org/obo/MONDO_0017807	growing teratoma syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment.
http://purl.obolibrary.org/obo/MONDO_0017810	variant ABeta2M amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018590	ABeta2M amyloidosis		A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.
http://purl.obolibrary.org/obo/MONDO_0017811	severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	http://purl.obolibrary.org/obo/MONDO_1060108	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome		A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.
http://purl.obolibrary.org/obo/MONDO_0017812	segmental progressive overgrowth syndrome with fibroadipose hyperplasia	http://purl.obolibrary.org/obo/MONDO_1040002	PIK3CA-related overgrowth spectrum		A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.
http://purl.obolibrary.org/obo/MONDO_0017814	primary bone lymphoma	http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma		A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.
http://purl.obolibrary.org/obo/MONDO_0017815	acquired porencephaly	http://purl.obolibrary.org/obo/MONDO_0017410	porencephaly		An instance of porencephaly that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0017816	primary systemic amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019438	AL amyloidosis		Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.
http://purl.obolibrary.org/obo/MONDO_0017817	primary localized amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019438	AL amyloidosis		Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.
http://purl.obolibrary.org/obo/MONDO_0017829	autosomal dominant proximal renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.
http://purl.obolibrary.org/obo/MONDO_0017830	severe Canavan disease	http://purl.obolibrary.org/obo/MONDO_0010079	Canavan disease		Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
http://purl.obolibrary.org/obo/MONDO_0017831	mild Canavan disease	http://purl.obolibrary.org/obo/MONDO_0010079	Canavan disease		Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
http://purl.obolibrary.org/obo/MONDO_0017832	Mycobacterium xenopi infection	http://purl.obolibrary.org/obo/MONDO_0020590	mycobacterial infectious disease		A disease caused by infection with Mycobacterium xenopi.
http://purl.obolibrary.org/obo/MONDO_0017836	erythrokeratoderma en cocardes	http://purl.obolibrary.org/obo/MONDO_0019270	erythrokeratoderma		Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterized by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0017837	multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0017839	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	http://purl.obolibrary.org/obo/MONDO_0008728	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.
http://purl.obolibrary.org/obo/MONDO_0017840	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	http://purl.obolibrary.org/obo/MONDO_0008728	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency		The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
http://purl.obolibrary.org/obo/MONDO_0017843	congenital pulmonary sequestration	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.
http://purl.obolibrary.org/obo/MONDO_0017844	Sezary syndrome	http://purl.obolibrary.org/obo/MONDO_0000607	primary cutaneous T-cell non-Hodgkin lymphoma		Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells).
http://purl.obolibrary.org/obo/MONDO_0017850	sirenomelia	http://purl.obolibrary.org/obo/MONDO_0010831	familial caudal dysgenesis		Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.
http://purl.obolibrary.org/obo/MONDO_0017852	infantile spasms-broad thumbs syndrome	http://purl.obolibrary.org/obo/MONDO_0020071	infantile epilepsy syndrome		A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.
http://purl.obolibrary.org/obo/MONDO_0017853	hypersensitivity pneumonitis	http://purl.obolibrary.org/obo/MONDO_0043905	pneumonitis		Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.
http://purl.obolibrary.org/obo/MONDO_0017857	spina bifida-hypospadias syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.
http://purl.obolibrary.org/obo/MONDO_0017859	colchicine poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.
http://purl.obolibrary.org/obo/MONDO_0017860	methanol poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).
http://purl.obolibrary.org/obo/MONDO_0017861	ethylene glycol poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.
http://purl.obolibrary.org/obo/MONDO_0017862	paraquat poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.
http://purl.obolibrary.org/obo/MONDO_0017863	digitalis poisoning	http://purl.obolibrary.org/obo/MONDO_0800388	cardiac glycoside intoxication		Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.
http://purl.obolibrary.org/obo/MONDO_0017864	congenital pulmonary veins atresia or stenosis	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.
http://purl.obolibrary.org/obo/MONDO_0017867	distal 17p13.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
http://purl.obolibrary.org/obo/MONDO_0017868	diencephalic-mesencephalic junction dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.
http://purl.obolibrary.org/obo/MONDO_0017869	chondroectodermal dysplasia with night blindness	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.
http://purl.obolibrary.org/obo/MONDO_0017871	bilateral massive adrenal hemorrhage	http://purl.obolibrary.org/obo/MONDO_0019801	acute adrenal insufficiency		A serious adrenal gland disorder characterized by acute bleeding into both adrenal glands. It is associated with illnesses such as severe sepsis, congestive heart failure, autoimmune etiologies such as antiphospholipid syndrome, the use of anticoagulants; especially in the setting of heparin-induced thrombocytopenia, as well as severe physical stress such as trauma and surgery.
http://purl.obolibrary.org/obo/MONDO_0017887	renal cell carcinoma associated with neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0005549	renal cell adenocarcinoma		Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma.
http://purl.obolibrary.org/obo/MONDO_0017890	tubulocystic renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005549	renal cell adenocarcinoma		Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported.
http://purl.obolibrary.org/obo/MONDO_0017892	autosomal recessive myogenic arthrogryposis multiplex congenita	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.
http://purl.obolibrary.org/obo/MONDO_0017893	inherited acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0017894	acute myeloid leukemia with CEBPA somatic mutations	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).
http://purl.obolibrary.org/obo/MONDO_0017900	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
http://purl.obolibrary.org/obo/MONDO_0017901	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
http://purl.obolibrary.org/obo/MONDO_0017902	autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
http://purl.obolibrary.org/obo/MONDO_0017903	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
http://purl.obolibrary.org/obo/MONDO_0017906	amyloidosis cutis dyschromia	http://purl.obolibrary.org/obo/MONDO_0015301	primary cutaneous amyloidosis		Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.
http://purl.obolibrary.org/obo/MONDO_0017907	primary lymphoma of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma		Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.
http://purl.obolibrary.org/obo/MONDO_0017917	maternally-inherited spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.
http://purl.obolibrary.org/obo/MONDO_0017921	hearing loss-familial salivary gland insensitivity to aldosterone syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0017924	central nervous system calcification-deafness-tubular acidosis-anemia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.
http://purl.obolibrary.org/obo/MONDO_0017925	T-cell immunodeficiency with epidermodysplasia verruciformis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.
http://purl.obolibrary.org/obo/MONDO_0017927	severe lateral tibial bowing with short stature	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.
http://purl.obolibrary.org/obo/MONDO_0017928	9p13 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0008013	chromosome 9p deletion syndrome		9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).
http://purl.obolibrary.org/obo/MONDO_0017929	congenital achiasma	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.
http://purl.obolibrary.org/obo/MONDO_0017931	hereditary inclusion body myopathy type 4	http://purl.obolibrary.org/obo/MONDO_0016112	hereditary inclusion-body myopathy		Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.
http://purl.obolibrary.org/obo/MONDO_0017933	hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0017934	aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
http://purl.obolibrary.org/obo/MONDO_0017935	hyperinsulinism due to HNF1A deficiency	http://purl.obolibrary.org/obo/MONDO_0015624	diazoxide-sensitive diffuse hyperinsulinism		Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.
http://purl.obolibrary.org/obo/MONDO_0017936	benign Samaritan congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.
http://purl.obolibrary.org/obo/MONDO_0017940	autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	http://purl.obolibrary.org/obo/MONDO_0100629	KIF5A-related neurological disorder		Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.
http://purl.obolibrary.org/obo/MONDO_0017942	Hendra virus infection	http://purl.obolibrary.org/obo/MONDO_0020067	infectious encephalitis		Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0017944	invasive non-typhoidal salmonellosis	http://purl.obolibrary.org/obo/MONDO_0000827	salmonellosis		Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.
http://purl.obolibrary.org/obo/MONDO_0017945	ABetaL34V amyloidosis	http://purl.obolibrary.org/obo/MONDO_0011583	cerebral amyloid angiopathy, APP-related		Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.
http://purl.obolibrary.org/obo/MONDO_0017946	ABeta amyloidosis, Iowa type	http://purl.obolibrary.org/obo/MONDO_0011583	cerebral amyloid angiopathy, APP-related		Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.
http://purl.obolibrary.org/obo/MONDO_0017947	ABeta amyloidosis, Italian type	http://purl.obolibrary.org/obo/MONDO_0011583	cerebral amyloid angiopathy, APP-related		Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0017948	ABetaA21G amyloidosis	http://purl.obolibrary.org/obo/MONDO_0011583	cerebral amyloid angiopathy, APP-related		Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.
http://purl.obolibrary.org/obo/MONDO_0017949	ABeta amyloidosis, Arctic type	http://purl.obolibrary.org/obo/MONDO_0011583	cerebral amyloid angiopathy, APP-related		Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.
http://purl.obolibrary.org/obo/MONDO_0017968	46,XY ovotesticular disorder of sex development	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated.
http://purl.obolibrary.org/obo/MONDO_0017983	humero-radio-ulnar synostosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.
http://purl.obolibrary.org/obo/MONDO_0017985	congenital radioulnar synostosis	http://purl.obolibrary.org/obo/MONDO_0001411	synostosis		Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.
http://purl.obolibrary.org/obo/MONDO_0017988	multifocal atrial tachycardia	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0017993	cerebral sinovenous thrombosis	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.
http://purl.obolibrary.org/obo/MONDO_0017997	telecanthus-hypertelorism-strabismus-pes cavus syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.
http://purl.obolibrary.org/obo/MONDO_0017999	fatty acid hydroxylase-associated neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.
http://purl.obolibrary.org/obo/MONDO_0018000	hereditary thrombocytosis with transverse limb defect	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0018005	spastic paraplegia-Paget disease of bone syndrome	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.
http://purl.obolibrary.org/obo/MONDO_0018006	adult-onset distal myopathy due to VCP mutation	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
http://purl.obolibrary.org/obo/MONDO_0018009	non-hypoproteinemic hypertrophic gastropathy	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.
http://purl.obolibrary.org/obo/MONDO_0018011	juvenile overlap myositis	http://purl.obolibrary.org/obo/MONDO_0018010	juvenile idiopathic inflammatory myopathy		Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.
http://purl.obolibrary.org/obo/MONDO_0018014	transient neonatal multiple acyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017714	acyl-CoA dehydrogenase deficiency		Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.
http://purl.obolibrary.org/obo/MONDO_0018016	classic neuroendocrine tumor of appendix	http://purl.obolibrary.org/obo/MONDO_0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade		Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.
http://purl.obolibrary.org/obo/MONDO_0018017	goblet cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade		An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.
http://purl.obolibrary.org/obo/MONDO_0018028	tetrasomy 5p	http://purl.obolibrary.org/obo/MONDO_0016942	partial trisomy/tetrasomy of the short arm of chromosome 5		Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).
http://purl.obolibrary.org/obo/MONDO_0018031	granulomatous slack skin disease	http://purl.obolibrary.org/obo/MONDO_0045071	mycosis fungoides variant		Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.
http://purl.obolibrary.org/obo/MONDO_0018034	thalidomide embryopathy	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.
http://purl.obolibrary.org/obo/MONDO_0018043	Thomas syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0018048	heparin-induced thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0000831	thrombotic disease		Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.
http://purl.obolibrary.org/obo/MONDO_0018051	Jessner lymphocytic infiltration of the skin	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.
http://purl.obolibrary.org/obo/MONDO_0018055	pediatric hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0007256	hepatocellular carcinoma		Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.
http://purl.obolibrary.org/obo/MONDO_0018056	bullous lichen planus	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.
http://purl.obolibrary.org/obo/MONDO_0018063	nodular non-suppurative panniculitis	http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder		Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.
http://purl.obolibrary.org/obo/MONDO_0018064	trigonocephaly-broad thumbs syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0018068	trisomy 13	http://purl.obolibrary.org/obo/MONDO_0700020	chromosome 13 disorder		Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.
http://purl.obolibrary.org/obo/MONDO_0018069	distal trisomy 17q	http://purl.obolibrary.org/obo/MONDO_0016967	partial duplication of the long arm of chromosome 17		Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.
http://purl.obolibrary.org/obo/MONDO_0018072	persistent truncus arteriosus	http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease		A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.
http://purl.obolibrary.org/obo/MONDO_0018082	aorto-ventricular tunnel	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.
http://purl.obolibrary.org/obo/MONDO_0018083	transient tyrosinemia of the newborn	http://purl.obolibrary.org/obo/MONDO_0004741	tyrosinemia		A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.
http://purl.obolibrary.org/obo/MONDO_0018084	Uhl anomaly	http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy		Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.
http://purl.obolibrary.org/obo/MONDO_0018085	umbilical cord ulceration-intestinal atresia syndrome	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		Umbilical cord ulceration-intestinal atresia syndrome is characterized by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0018090	double outlet left ventricle	http://purl.obolibrary.org/obo/MONDO_0016581	conotruncal heart malformations		Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.
http://purl.obolibrary.org/obo/MONDO_0018095	Weaver-Williams syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.
http://purl.obolibrary.org/obo/MONDO_0018098	autosomal dominant limb-girdle muscular dystrophy type 1E (DES)	http://purl.obolibrary.org/obo/MONDO_0015151	muscular dystrophy, limb-girdle, autosomal dominant		Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.
http://purl.obolibrary.org/obo/MONDO_0018109	fulminant viral hepatitis	http://purl.obolibrary.org/obo/MONDO_0002251	hepatitis		Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.
http://purl.obolibrary.org/obo/MONDO_0018115	epidermal nevus syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018121	mitochondrial DNA maintenance syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.
http://purl.obolibrary.org/obo/MONDO_0018123	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.
http://purl.obolibrary.org/obo/MONDO_0018125	focal epilepsy-intellectual disability-cerebro-cerebellar malformation	http://purl.obolibrary.org/obo/MONDO_0015653	monogenic epilepsy		Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.
http://purl.obolibrary.org/obo/MONDO_0018126	progressive myoclonic epilepsy with dystonia	http://purl.obolibrary.org/obo/MONDO_0020071	infantile epilepsy syndrome		A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
http://purl.obolibrary.org/obo/MONDO_0018127	16q24.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016914	partial deletion of the long arm of chromosome 16		16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).
http://purl.obolibrary.org/obo/MONDO_0018128	phalangeal microgeodic syndrome	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.
http://purl.obolibrary.org/obo/MONDO_0018129	autosomal recessive cerebellar ataxia with late-onset spasticity	http://purl.obolibrary.org/obo/MONDO_0019255	sphingolipidosis		Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.
http://purl.obolibrary.org/obo/MONDO_0018130	brain dopamine-serotonin vesicular transport disease	http://purl.obolibrary.org/obo/MONDO_0019219	inborn disorder of neurotransmitter metabolism and transport		An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
http://purl.obolibrary.org/obo/MONDO_0018133	attenuated Chédiak-Higashi syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
http://purl.obolibrary.org/obo/MONDO_0018136	minimal pigment oculocutaneous albinism type 1	http://purl.obolibrary.org/obo/MONDO_0018135	oculocutaneous albinism type 1		Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.
http://purl.obolibrary.org/obo/MONDO_0018137	temperature-sensitive oculocutaneous albinism type 1	http://purl.obolibrary.org/obo/MONDO_0018135	oculocutaneous albinism type 1		Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).
http://purl.obolibrary.org/obo/MONDO_0018141	pyruvate carboxylase deficiency, infantile form	http://purl.obolibrary.org/obo/MONDO_0009949	pyruvate carboxylase deficiency disease		Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
http://purl.obolibrary.org/obo/MONDO_0018142	pyruvate carboxylase deficiency, severe neonatal type	http://purl.obolibrary.org/obo/MONDO_0009949	pyruvate carboxylase deficiency disease		Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.
http://purl.obolibrary.org/obo/MONDO_0018143	pyruvate carboxylase deficiency, benign type	http://purl.obolibrary.org/obo/MONDO_0009949	pyruvate carboxylase deficiency disease		Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.
http://purl.obolibrary.org/obo/MONDO_0018146	macular telangiectasia type 1	http://purl.obolibrary.org/obo/MONDO_1010184	macular telangiectasia		A rare, acquired, macular telangiectasia characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.
http://purl.obolibrary.org/obo/MONDO_0018147	macular telangiectasia type 3	http://purl.obolibrary.org/obo/MONDO_1010184	macular telangiectasia		A rare, acquired, macular telangiectasia characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.
http://purl.obolibrary.org/obo/MONDO_0018148	vasoproliferative tumor of retina	http://purl.obolibrary.org/obo/MONDO_0021453	benign neoplasm of retina		Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.
http://purl.obolibrary.org/obo/MONDO_0018154	Madelung deformity	http://purl.obolibrary.org/obo/MONDO_0007481	Leri-Weill dyschondrosteosis		Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.
http://purl.obolibrary.org/obo/MONDO_0018160	hereditary retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood.
http://purl.obolibrary.org/obo/MONDO_0018164	arterial thoracic outlet syndrome	http://purl.obolibrary.org/obo/MONDO_0005979	thoracic outlet syndrome		Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.
http://purl.obolibrary.org/obo/MONDO_0018165	venous thoracic outlet syndrome	http://purl.obolibrary.org/obo/MONDO_0005979	thoracic outlet syndrome		Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.
http://purl.obolibrary.org/obo/MONDO_0018167	primary essential cutis verticis gyrata	http://purl.obolibrary.org/obo/MONDO_0019033	primary cutis verticis gyrata		Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.
http://purl.obolibrary.org/obo/MONDO_0018170	idiopathic nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Nephrotic syndrome for which no cause has been identified.
http://purl.obolibrary.org/obo/MONDO_0018172	malignant sex cord stromal tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0021657	ovarian sex cord-stromal tumor		Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.
http://purl.obolibrary.org/obo/MONDO_0018173	acute opioid poisoning	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.
http://purl.obolibrary.org/obo/MONDO_0018177	glioblastoma	http://purl.obolibrary.org/obo/MONDO_0016680	high grade astrocytic tumor		The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0018181	staphylococcal scalded skin syndrome	http://purl.obolibrary.org/obo/MONDO_0017592	staphylococcal toxemia		A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection.
http://purl.obolibrary.org/obo/MONDO_0018182	bullous impetigo	http://purl.obolibrary.org/obo/MONDO_0017592	staphylococcal toxemia		Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.
http://purl.obolibrary.org/obo/MONDO_0018183	staphylococcal necrotizing pneumonia	http://purl.obolibrary.org/obo/MONDO_0017592	staphylococcal toxemia		Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.
http://purl.obolibrary.org/obo/MONDO_0018184	gastric linitis plastica	http://purl.obolibrary.org/obo/MONDO_0045054	cancer-related condition		Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0018198	acute encephalopathy with biphasic seizures and late reduced diffusion	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0018199	new-onset refractory status epilepticus	http://purl.obolibrary.org/obo/MONDO_0020072	childhood-onset epilepsy syndrome		New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.
http://purl.obolibrary.org/obo/MONDO_0018203	LMNA-related cardiocutaneous progeria syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
http://purl.obolibrary.org/obo/MONDO_0018204	20q11.2 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016970	partial trisomy of the long arm of chromosome 20		20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.
http://purl.obolibrary.org/obo/MONDO_0018205	distal monosomy 1q	http://purl.obolibrary.org/obo/MONDO_0022756	chromosome 1q deletion		1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
http://purl.obolibrary.org/obo/MONDO_0018206	childhood-onset autosomal recessive myopathy with external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0011577	myopathy, proximal, and ophthalmoplegia		A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.
http://purl.obolibrary.org/obo/MONDO_0018207	2p13.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016884	partial deletion of the short arm of chromosome 2		2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.
http://purl.obolibrary.org/obo/MONDO_0018209	Alexander disease type I	http://purl.obolibrary.org/obo/MONDO_0008752	Alexander disease		Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
http://purl.obolibrary.org/obo/MONDO_0018210	Alexander disease type II	http://purl.obolibrary.org/obo/MONDO_0008752	Alexander disease		Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.
http://purl.obolibrary.org/obo/MONDO_0018211	Balint syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.
http://purl.obolibrary.org/obo/MONDO_0018212	familial cervical artery dissection	http://purl.obolibrary.org/obo/MONDO_0006061	cervical artery dissection		An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018221	immune hydrops fetalis	http://purl.obolibrary.org/obo/MONDO_0015193	hydrops fetalis		Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.
http://purl.obolibrary.org/obo/MONDO_0018223	systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder		A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.
http://purl.obolibrary.org/obo/MONDO_0018224	hydroa vacciniforme-like lymphoma	http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder		A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.
http://purl.obolibrary.org/obo/MONDO_0018225	ALK-positive large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0018226	infantile epileptic-dyskinetic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0020065	combined dystonia		Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0018228	bipartite talus	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.
http://purl.obolibrary.org/obo/MONDO_0018242	autoimmune hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001220	hypoparathyroidism		An autoimmune form of hypoparathyroidism.
http://purl.obolibrary.org/obo/MONDO_0018245	2p21 microdeletion syndrome without cystinuria	http://purl.obolibrary.org/obo/MONDO_0015583	2p21 microdeletion syndrome		2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.
http://purl.obolibrary.org/obo/MONDO_0018247	CADDS	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
http://purl.obolibrary.org/obo/MONDO_0018248	intellectual disability-seizures-macrocephaly-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
http://purl.obolibrary.org/obo/MONDO_0018256	acute myeloid leukemia with t(8;16)(p11;p13) translocation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.
http://purl.obolibrary.org/obo/MONDO_0018257	familial syringomyelia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of syringomyelia that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018261	Nevada syndrome	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.
http://purl.obolibrary.org/obo/MONDO_0018263	fetal carbamazepine syndrome	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.
http://purl.obolibrary.org/obo/MONDO_0018264	oculocutaneous albinism type 6	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
http://purl.obolibrary.org/obo/MONDO_0018268	Medich giant platelet syndrome	http://purl.obolibrary.org/obo/MONDO_0020117	alpha granule disease		Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.
http://purl.obolibrary.org/obo/MONDO_0018270	extraskeletal Ewing sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.
http://purl.obolibrary.org/obo/MONDO_0018280	muscle-eye-brain disease with bilateral multicystic leucodystrophy	http://purl.obolibrary.org/obo/MONDO_0018869	cobblestone lissencephaly		Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.
http://purl.obolibrary.org/obo/MONDO_0018281	congenital muscular dystrophy with hyperlaxity	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.
http://purl.obolibrary.org/obo/MONDO_0018298	multicentric osteolysis-nodulosis-arthropathy spectrum	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.
http://purl.obolibrary.org/obo/MONDO_0018302	acquired kinky hair syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.
http://purl.obolibrary.org/obo/MONDO_0018314	infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	http://purl.obolibrary.org/obo/MONDO_0020071	infantile epilepsy syndrome		A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018322	HSD10 disease, infantile type	http://purl.obolibrary.org/obo/MONDO_0010327	HSD10 mitochondrial disease		HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.
http://purl.obolibrary.org/obo/MONDO_0018323	HSD10 disease, neonatal type	http://purl.obolibrary.org/obo/MONDO_0010327	HSD10 mitochondrial disease		HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.
http://purl.obolibrary.org/obo/MONDO_0018324	adult-onset myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0009688	myasthenia gravis		Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.
http://purl.obolibrary.org/obo/MONDO_0018325	juvenile myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0009688	myasthenia gravis		Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.
http://purl.obolibrary.org/obo/MONDO_0018326	transient neonatal myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0018356	secondary neonatal autoimmune disease		Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.
http://purl.obolibrary.org/obo/MONDO_0018330	mucinous adenocarcinoma of the appendix	http://purl.obolibrary.org/obo/MONDO_0006087	appendix adenocarcinoma		Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.
http://purl.obolibrary.org/obo/MONDO_0018334	chronic hiccup	http://purl.obolibrary.org/obo/MONDO_0001292	autonomic nervous system disorder		Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.
http://purl.obolibrary.org/obo/MONDO_0018339	PrP systemic amyloidosis	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.
http://purl.obolibrary.org/obo/MONDO_0018341	3q27.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
http://purl.obolibrary.org/obo/MONDO_0018346	ferro-cerebro-cutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.
http://purl.obolibrary.org/obo/MONDO_0018352	squamous cell carcinoma of penis	http://purl.obolibrary.org/obo/MONDO_0006360	penile carcinoma		A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)
http://purl.obolibrary.org/obo/MONDO_0018353	refractory celiac disease	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.
http://purl.obolibrary.org/obo/MONDO_0018360	neonatal lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0018356	secondary neonatal autoimmune disease		A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.
http://purl.obolibrary.org/obo/MONDO_0018369	immature ovarian teratoma	http://purl.obolibrary.org/obo/MONDO_0016096	malignant non-dysgerminomatous germ cell tumor of ovary		A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.
http://purl.obolibrary.org/obo/MONDO_0018370	KLHL9-related early-onset distal myopathy	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.
http://purl.obolibrary.org/obo/MONDO_0018373	avascular necrosis	http://purl.obolibrary.org/obo/MONDO_0005380	osteonecrosis		Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.
http://purl.obolibrary.org/obo/MONDO_0018378	osteonecrosis of the jaw	http://purl.obolibrary.org/obo/MONDO_0018374	secondary avascular necrosis		An area of necrotic bone in the mandible or maxilla.
http://purl.obolibrary.org/obo/MONDO_0018382	epiphysiolysis of the hip	http://purl.obolibrary.org/obo/MONDO_0018383	osteonecrosis of genetic origin		Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).
http://purl.obolibrary.org/obo/MONDO_0018383	osteonecrosis of genetic origin	http://purl.obolibrary.org/obo/MONDO_0005380	osteonecrosis		An instance of osteonecrosis that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018419	autosomal recessive spastic paraplegia type 67	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018422	autosomal recessive spastic paraplegia type 70	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018430	partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
http://purl.obolibrary.org/obo/MONDO_0018433	acute myeloid leukemia with t(6;9)(p23;q34)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.
http://purl.obolibrary.org/obo/MONDO_0018436	megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.
http://purl.obolibrary.org/obo/MONDO_0018437	acute myeloid leukemia with NPM1 somatic mutations	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.
http://purl.obolibrary.org/obo/MONDO_0018439	eosinophilic colitis	http://purl.obolibrary.org/obo/MONDO_0016129	eosinophilic gastroenteritis		Inflammation of the colon that is characterized by eosinic infiltration.
http://purl.obolibrary.org/obo/MONDO_0018442	acitretin/etretinate embryopathy	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.
http://purl.obolibrary.org/obo/MONDO_0018448	clear cell papillary renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0007763	nonpapillary renal cell carcinoma		Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.
http://purl.obolibrary.org/obo/MONDO_0018449	acquired cystic disease-associated renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma		Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.
http://purl.obolibrary.org/obo/MONDO_0018450	spinal muscular atrophy with respiratory distress type 2	http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy		Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.
http://purl.obolibrary.org/obo/MONDO_0018459	isolated glycerol kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0010613	inborn glycerol kinase deficiency		Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).
http://purl.obolibrary.org/obo/MONDO_0018463	mild phosphoribosylpyrophosphate synthetase superactivity	http://purl.obolibrary.org/obo/MONDO_0010395	phosphoribosylpyrophosphate synthetase superactivity		Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.
http://purl.obolibrary.org/obo/MONDO_0018464	severe phosphoribosylpyrophosphate synthetase superactivity	http://purl.obolibrary.org/obo/MONDO_0010395	phosphoribosylpyrophosphate synthetase superactivity		Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.
http://purl.obolibrary.org/obo/MONDO_0018467	nephropathic infantile cystinosis	http://purl.obolibrary.org/obo/MONDO_0100151	nephropathic cystinosis		Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
http://purl.obolibrary.org/obo/MONDO_0018468	proton-pump inhibitor-responsive esophageal eosinophilia	http://purl.obolibrary.org/obo/MONDO_0018438	eosinophilic gastrointestinal disease		Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.
http://purl.obolibrary.org/obo/MONDO_0018471	generalized eruptive keratoacanthoma	http://purl.obolibrary.org/obo/MONDO_0002527	keratoacanthoma		Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.
http://purl.obolibrary.org/obo/MONDO_0018472	familial isolated trichomegaly	http://purl.obolibrary.org/obo/MONDO_0008593	trichomegaly		Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.
http://purl.obolibrary.org/obo/MONDO_0018473	hyperlipoproteinemia type 3	http://purl.obolibrary.org/obo/MONDO_0001336	familial hyperlipidemia		Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.
http://purl.obolibrary.org/obo/MONDO_0018474	13q12.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
http://purl.obolibrary.org/obo/MONDO_0018481	undifferentiated carcinoma of esophagus	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation.
http://purl.obolibrary.org/obo/MONDO_0018483	secondary pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/MONDO_0001437	pulmonary alveolar proteinosis		A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency.
http://purl.obolibrary.org/obo/MONDO_0018484	semicircular canal dehiscence syndrome	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.
http://purl.obolibrary.org/obo/MONDO_0018485	glycogen storage disease due to acid maltase deficiency, late-onset	http://purl.obolibrary.org/obo/MONDO_0009290	glycogen storage disease II		Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.
http://purl.obolibrary.org/obo/MONDO_0018489	autoimmune encephalopathy with parasomnia and obstructive sleep apnea	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.
http://purl.obolibrary.org/obo/MONDO_0018490	cono-spondylar dysplasia	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.
http://purl.obolibrary.org/obo/MONDO_0018492	hereditary clear cell renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005005	clear cell renal carcinoma		A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.
http://purl.obolibrary.org/obo/MONDO_0018494	microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
http://purl.obolibrary.org/obo/MONDO_0018495	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.
http://purl.obolibrary.org/obo/MONDO_0018504	undifferentiated carcinoma of stomach	http://purl.obolibrary.org/obo/MONDO_0005617	undifferentiated carcinoma		A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.
http://purl.obolibrary.org/obo/MONDO_0018507	microcephaly-complex motor and sensory axonal neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.
http://purl.obolibrary.org/obo/MONDO_0018509	squamous cell carcinoma of the small intestine	http://purl.obolibrary.org/obo/MONDO_0005522	small intestine carcinoma		A carcinoma that arises from the small intestine. It is composed of malignant squamous cells.
http://purl.obolibrary.org/obo/MONDO_0018513	squamous cell carcinoma of colon	http://purl.obolibrary.org/obo/MONDO_0006165	colorectal squamous cell carcinoma		A squamous cell carcinoma that involves the colon.
http://purl.obolibrary.org/obo/MONDO_0018515	squamous cell carcinoma of rectum	http://purl.obolibrary.org/obo/MONDO_0044937	rectal carcinoma		A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.
http://purl.obolibrary.org/obo/MONDO_0018521	squamous cell carcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0005192	exocrine pancreatic carcinoma		A squamous cell carcinoma that involves the pancreas.
http://purl.obolibrary.org/obo/MONDO_0018523	pancreatic mucinous cystadenoma	http://purl.obolibrary.org/obo/MONDO_0006859	mucinous cystadenoma		A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.
http://purl.obolibrary.org/obo/MONDO_0018525	solid pseudopapillary carcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0005192	exocrine pancreatic carcinoma		A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues.
http://purl.obolibrary.org/obo/MONDO_0018528	congenital myopathy with myasthenic-like onset	http://purl.obolibrary.org/obo/MONDO_0100150	RYR1-related myopathy		Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.
http://purl.obolibrary.org/obo/MONDO_0018533	undifferentiated carcinoma of liver and intrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018531	carcinoma of liver and intrahepatic biliary tract		Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characteristics. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated.
http://purl.obolibrary.org/obo/MONDO_0018534	squamous cell carcinoma of liver and intrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018531	carcinoma of liver and intrahepatic biliary tract		Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.
http://purl.obolibrary.org/obo/MONDO_0018535	biliary cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018531	carcinoma of liver and intrahepatic biliary tract		A cystadenocarcinoma that involves the biliary tree.
http://purl.obolibrary.org/obo/MONDO_0018536	adenocarcinoma of gallbladder and extrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018918	carcinoma of gallbladder and extrahepatic biliary tract		Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.
http://purl.obolibrary.org/obo/MONDO_0018537	squamous cell carcinoma of gallbladder and extrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018918	carcinoma of gallbladder and extrahepatic biliary tract		Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.
http://purl.obolibrary.org/obo/MONDO_0018540	PFAPA syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
http://purl.obolibrary.org/obo/MONDO_0018547	acute tricyclic antidepressant poisoning	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.
http://purl.obolibrary.org/obo/MONDO_0018548	acute poisoning by drugs with membrane-stabilizing effect	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.
http://purl.obolibrary.org/obo/MONDO_0018551	patent urachus	http://purl.obolibrary.org/obo/MONDO_0018565	congenital urachal anomaly		Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
http://purl.obolibrary.org/obo/MONDO_0018552	urachal sinus	http://purl.obolibrary.org/obo/MONDO_0018565	congenital urachal anomaly		Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.
http://purl.obolibrary.org/obo/MONDO_0018553	urachal diverticulum	http://purl.obolibrary.org/obo/MONDO_0018565	congenital urachal anomaly		Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.
http://purl.obolibrary.org/obo/MONDO_0018564	3p25.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016885	partial deletion of the short arm of chromosome 3		A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.
http://purl.obolibrary.org/obo/MONDO_0018565	congenital urachal anomaly	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.
http://purl.obolibrary.org/obo/MONDO_0018569	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.
http://purl.obolibrary.org/obo/MONDO_0018582	GCGR-related hyperglucagonemia	http://purl.obolibrary.org/obo/MONDO_0021040	pancreatic neoplasm		A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0018585	pediatric arterial ischemic stroke	http://purl.obolibrary.org/obo/MONDO_1060198	ischemic stroke		A rare ischemic disease characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue.
http://purl.obolibrary.org/obo/MONDO_0018588	ALECT2 amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.
http://purl.obolibrary.org/obo/MONDO_0018594	secondary polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0019170	polyarteritis nodosa		Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).
http://purl.obolibrary.org/obo/MONDO_0018595	single-organ polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018593	primary polyarteritis nodosa		Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.
http://purl.obolibrary.org/obo/MONDO_0018596	systemic polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018593	primary polyarteritis nodosa		Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.
http://purl.obolibrary.org/obo/MONDO_0018597	plastic bronchitis	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.
http://purl.obolibrary.org/obo/MONDO_0018604	familial colorectal cancer type X	http://purl.obolibrary.org/obo/MONDO_0018630	hereditary nonpolyposis colon cancer		Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.
http://purl.obolibrary.org/obo/MONDO_0018608	pure autonomic failure	http://purl.obolibrary.org/obo/MONDO_0007803	multiple system atrophy		Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.
http://purl.obolibrary.org/obo/MONDO_0018623	postpartum psychosis	http://purl.obolibrary.org/obo/MONDO_0044013	puerperal disorder		Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.
http://purl.obolibrary.org/obo/MONDO_0018633	20q11.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016918	partial deletion of the long arm of chromosome 20		20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
http://purl.obolibrary.org/obo/MONDO_0018642	NIK deficiency	http://purl.obolibrary.org/obo/MONDO_0018814	non-SCID combined immunodeficiency		A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).
http://purl.obolibrary.org/obo/MONDO_0018648	Keratocystic odontogenic tumor	http://purl.obolibrary.org/obo/MONDO_0021192	odontogenic neoplasm		An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.
http://purl.obolibrary.org/obo/MONDO_0018658	19p13.3 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0018659	partial duplication of the short arm of chromosome 19		19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0018673	IgG4-related pachymeningitis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment.
http://purl.obolibrary.org/obo/MONDO_0018674	IgG4-related submandibular gland disease	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.
http://purl.obolibrary.org/obo/MONDO_0018675	IgG4-related ophthalmic disorder	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		A IgG4-related disease that involves the eye.
http://purl.obolibrary.org/obo/MONDO_0018680	cutaneous pseudolymphoma	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		A pseudolymphoma of the skin.
http://purl.obolibrary.org/obo/MONDO_0018684	idiopathic neonatal atrial flutter	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.
http://purl.obolibrary.org/obo/MONDO_0018685	incessant infant ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.
http://purl.obolibrary.org/obo/MONDO_0018686	acquired Creutzfeldt-Jakob disease	http://purl.obolibrary.org/obo/MONDO_0005357	Creutzfeldt Jacob disease		An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0018690	Holmes-Adie syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.
http://purl.obolibrary.org/obo/MONDO_0018694	isolated tracheo-esophageal fistula	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		A rare, congenital, esophageal disorder characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.
http://purl.obolibrary.org/obo/MONDO_0018696	corticobasal syndrome	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.
http://purl.obolibrary.org/obo/MONDO_0018698	hereditary neuroendocrine tumor of small intestine	http://purl.obolibrary.org/obo/MONDO_0018510	small intestine neuroendocrine neoplasm		An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018702	Castleman-Kojima disease	http://purl.obolibrary.org/obo/MONDO_0035838	idiopathic multicentric Castleman disease		A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly
http://purl.obolibrary.org/obo/MONDO_0018712	composite hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0021121	hemangioendothelioma		An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.
http://purl.obolibrary.org/obo/MONDO_0018713	retiform hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0021121	hemangioendothelioma		An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.
http://purl.obolibrary.org/obo/MONDO_0018714	primary intralymphatic angioendothelioma	http://purl.obolibrary.org/obo/MONDO_0021121	hemangioendothelioma		An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.
http://purl.obolibrary.org/obo/MONDO_0018716	partially involuting congenital hemangioma	http://purl.obolibrary.org/obo/MONDO_0018715	congenital hemangioma		A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion
http://purl.obolibrary.org/obo/MONDO_0018734	verrucous hemangioma	http://purl.obolibrary.org/obo/MONDO_0003110	skin hemangioma		A skin hemangioma characterized by the presence of epidermal hyperplasia.
http://purl.obolibrary.org/obo/MONDO_0018735	multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0002013	lymphangioma		Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.
http://purl.obolibrary.org/obo/MONDO_0018736	kaposiform lymphangiomatosis	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.
http://purl.obolibrary.org/obo/MONDO_0018738	benign metanephric tumor	http://purl.obolibrary.org/obo/MONDO_0002513	kidney benign neoplasm		A benign neoplasm that involves the metanephros.
http://purl.obolibrary.org/obo/MONDO_0018739	neonatal alloimmune neutropenia	http://purl.obolibrary.org/obo/MONDO_0001475	neutropenia		A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.
http://purl.obolibrary.org/obo/MONDO_0018740	drug-induced methemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0044349	acquired hemoglobinopathy		Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).
http://purl.obolibrary.org/obo/MONDO_0018744	oligodendroglial tumor	http://purl.obolibrary.org/obo/MONDO_0100342	malignant glioma		Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).
http://purl.obolibrary.org/obo/MONDO_0018746	mucous membrane pemphigoid	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		Mucous membrane pemphigoid is a bullous dermatosis characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.
http://purl.obolibrary.org/obo/MONDO_0018747	acquired epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.
http://purl.obolibrary.org/obo/MONDO_0018749	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0017145	beta-thalassemia and related diseases		Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.
http://purl.obolibrary.org/obo/MONDO_0018755	scorpion envenomation	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.
http://purl.obolibrary.org/obo/MONDO_0018757	supratip dysplasia	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.
http://purl.obolibrary.org/obo/MONDO_0018767	severe primary trimethylaminuria	http://purl.obolibrary.org/obo/MONDO_0011182	trimethylaminuria		Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.
http://purl.obolibrary.org/obo/MONDO_0018769	isosporiasis	http://purl.obolibrary.org/obo/MONDO_0005707	coccidiosis		An intestinal infection with Isospora belli.
http://purl.obolibrary.org/obo/MONDO_0018806	primary intrahepatic lithiasis	http://purl.obolibrary.org/obo/MONDO_0012672	cholelithiasis		A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes.
http://purl.obolibrary.org/obo/MONDO_0018808	Caroli syndrome	http://purl.obolibrary.org/obo/MONDO_0004868	biliary tract disorder		A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present with recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.
http://purl.obolibrary.org/obo/MONDO_0018810	lethal hydranencephaly-diaphragmatic hernia syndrome	http://purl.obolibrary.org/obo/MONDO_0043009	hereditary lethal multiple congenital anomalies/dysmorphic syndrome		Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.
http://purl.obolibrary.org/obo/MONDO_0018811	congenital portosystemic shunt	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors.
http://purl.obolibrary.org/obo/MONDO_0018815	aneurysmal bone cyst	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.
http://purl.obolibrary.org/obo/MONDO_0018816	isolated neonatal sclerosing cholangitis	http://purl.obolibrary.org/obo/MONDO_0018646	sclerosing cholangitis		Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.
http://purl.obolibrary.org/obo/MONDO_0018820	recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
http://purl.obolibrary.org/obo/MONDO_0018822	global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).
http://purl.obolibrary.org/obo/MONDO_0018827	familial chilblain lupus	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018835	nodular regenerative hyperplasia of the liver	http://purl.obolibrary.org/obo/MONDO_0100137	telomere syndrome		Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.
http://purl.obolibrary.org/obo/MONDO_0018837	postinfectious vasculitis	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.
http://purl.obolibrary.org/obo/MONDO_0018839	acquired schizencephaly	http://purl.obolibrary.org/obo/MONDO_0010011	schizencephaly		An instance of schizencephaly that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0018840	isolated congenital hepatic fibrosis	http://purl.obolibrary.org/obo/MONDO_0007329	cirrhosis, familial		A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.
http://purl.obolibrary.org/obo/MONDO_0018843	embryonal carcinoma of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0020574	central nervous system nongerminomatous germ cell tumor		A embryonal carcinoma that involves the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0018845	focal myositis	http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy		Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.
http://purl.obolibrary.org/obo/MONDO_0018851	familial keratoacanthoma	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0018854	acquired purpura fulminans	http://purl.obolibrary.org/obo/MONDO_0000831	thrombotic disease		A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.
http://purl.obolibrary.org/obo/MONDO_0018856	lichen amyloidosis	http://purl.obolibrary.org/obo/MONDO_0015301	primary cutaneous amyloidosis		Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.
http://purl.obolibrary.org/obo/MONDO_0018860	microlissencephaly-micromelia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.
http://purl.obolibrary.org/obo/MONDO_0018861	Zellweger-like syndrome without peroxisomal anomalies	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0018873	anterior cutaneous nerve entrapment syndrome	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.
http://purl.obolibrary.org/obo/MONDO_0018885	orbital leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.
http://purl.obolibrary.org/obo/MONDO_0018890	Lyell syndrome	http://purl.obolibrary.org/obo/MONDO_0019810	toxic epidermal necrolysis		Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.
http://purl.obolibrary.org/obo/MONDO_0018899	posterior cortical atrophy	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018900	corticosteroid-sensitive aseptic abscess syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.
http://purl.obolibrary.org/obo/MONDO_0018918	carcinoma of gallbladder and extrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0021385	extrahepatic bile duct neoplasm		Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.
http://purl.obolibrary.org/obo/MONDO_0018919	McCune-Albright syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).
http://purl.obolibrary.org/obo/MONDO_0018920	peripartum cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.
http://purl.obolibrary.org/obo/MONDO_0018922	cold agglutinin disease	http://purl.obolibrary.org/obo/MONDO_0016450	autoimmune hemolytic anemia, cold type		Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C).
http://purl.obolibrary.org/obo/MONDO_0018932	cirrhotic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016330	non-familial hypertrophic cardiomyopathy		Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.
http://purl.obolibrary.org/obo/MONDO_0018933	Mazabraud syndrome	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occurring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.
http://purl.obolibrary.org/obo/MONDO_0018935	hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0004948	B-cell chronic lymphocytic leukemia		Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.
http://purl.obolibrary.org/obo/MONDO_0018946	rhombencephalosynapsis	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.
http://purl.obolibrary.org/obo/MONDO_0018951	distal myopathy with vocal cord weakness	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.
http://purl.obolibrary.org/obo/MONDO_0018969	craniorachischisis	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0018971	isolated oxycephaly	http://purl.obolibrary.org/obo/MONDO_0015337	isolated craniosynostosis		Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.
http://purl.obolibrary.org/obo/MONDO_0018974	paraneoplastic pemphigus	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare.
http://purl.obolibrary.org/obo/MONDO_0018977	polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.
http://purl.obolibrary.org/obo/MONDO_0018980	acrofacial dysostosis, Kennedy-Teebi type	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.
http://purl.obolibrary.org/obo/MONDO_0018981	benign idiopathic neonatal seizures	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.
http://purl.obolibrary.org/obo/MONDO_0018984	Oroya fever	http://purl.obolibrary.org/obo/MONDO_0005664	bartonellosis		An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.
http://purl.obolibrary.org/obo/MONDO_0018988	iridocorneal endothelial syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications
http://purl.obolibrary.org/obo/MONDO_0018989	recurrent acute pancreatitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.
http://purl.obolibrary.org/obo/MONDO_0018991	hepatoportal sclerosis	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.
http://purl.obolibrary.org/obo/MONDO_0018992	IgG4-related thyroid disease	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occurring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.
http://purl.obolibrary.org/obo/MONDO_0019002	Lhermitte-Duclos disease	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.
http://purl.obolibrary.org/obo/MONDO_0019013	non-histaminic angioedema	http://purl.obolibrary.org/obo/MONDO_0010481	angioedema		Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.
http://purl.obolibrary.org/obo/MONDO_0019017	short fifth metacarpals-insulin resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome is characterized by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0019020	PANDAS	http://purl.obolibrary.org/obo/MONDO_1060178	pediatric acute-onset neuropsychiatric syndrome		PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.
http://purl.obolibrary.org/obo/MONDO_0019022	sensorineural hearing loss-early graying-essential tremor syndrome	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		Sensorineural hearing loss-early graying-essential tremor syndrome is characterized by the combination of sensorineural hearing loss, early graying of scalp hair and adult onset essential tremor.
http://purl.obolibrary.org/obo/MONDO_0019029	segmental odontomaxillary dysplasia	http://purl.obolibrary.org/obo/MONDO_0005497	bone development disease		Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.
http://purl.obolibrary.org/obo/MONDO_0019031	thrombocytopenia with congenital dyserythropoietic anemia	http://purl.obolibrary.org/obo/MONDO_0100089	GATA1-Related X-Linked Cytopenia		Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.
http://purl.obolibrary.org/obo/MONDO_0019033	primary cutis verticis gyrata	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).
http://purl.obolibrary.org/obo/MONDO_0019056	neuromuscular disease	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions
http://purl.obolibrary.org/obo/MONDO_0019067	idiopathic steroid-sensitive nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0018170	idiopathic nephrotic syndrome		Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.
http://purl.obolibrary.org/obo/MONDO_0019068	congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	http://purl.obolibrary.org/obo/MONDO_0019722	glomerular disorder		A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.
http://purl.obolibrary.org/obo/MONDO_0019074	bilateral acute depigmentation of the iris	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.
http://purl.obolibrary.org/obo/MONDO_0019075	Bosley-Salih-Alorainy syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.
http://purl.obolibrary.org/obo/MONDO_0019076	circumscribed palmoplantar hypokeratosis	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin.
http://purl.obolibrary.org/obo/MONDO_0019077	warty dyskeratoma	http://purl.obolibrary.org/obo/MONDO_0002093	acanthoma		A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug.
http://purl.obolibrary.org/obo/MONDO_0019082	bullous pemphigoid	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.
http://purl.obolibrary.org/obo/MONDO_0019084	radiation proctitis	http://purl.obolibrary.org/obo/MONDO_0043459	radiation-induced disorder		Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.
http://purl.obolibrary.org/obo/MONDO_0019086	carcinoma of esophagus	http://purl.obolibrary.org/obo/MONDO_0007576	esophageal cancer		Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).
http://purl.obolibrary.org/obo/MONDO_0019092	infantile apnea	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.
http://purl.obolibrary.org/obo/MONDO_0019093	immunodeficiency due to selective anti-polysaccharide antibody deficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).
http://purl.obolibrary.org/obo/MONDO_0019094	congenital Epstein-Barr virus infection	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.
http://purl.obolibrary.org/obo/MONDO_0019101	retinal capillary malformation	http://purl.obolibrary.org/obo/MONDO_0021231	retina neoplasm		Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.
http://purl.obolibrary.org/obo/MONDO_0019102	dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0019103	benign exophthalmos syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Benign exophthalmos syndrome is characterized by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.
http://purl.obolibrary.org/obo/MONDO_0019108	silent sinus syndrome	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Silent sinus syndrome is characterized by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.
http://purl.obolibrary.org/obo/MONDO_0019113	benign paroxysmal torticollis of infancy	http://purl.obolibrary.org/obo/MONDO_0016058	paroxysmal dystonia		Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.
http://purl.obolibrary.org/obo/MONDO_0019114	psychogenic movement disorders	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.
http://purl.obolibrary.org/obo/MONDO_0019115	obesity due to melanocortin 4 receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0019182	inherited obesity		Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.
http://purl.obolibrary.org/obo/MONDO_0019120	pili bifurcati	http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly		Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.
http://purl.obolibrary.org/obo/MONDO_0019122	idiopathic acute eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.
http://purl.obolibrary.org/obo/MONDO_0019127	polymyositis	http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy		A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.
http://purl.obolibrary.org/obo/MONDO_0019129	global developmental delay-osteopenia-ectodermal defect syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies.
http://purl.obolibrary.org/obo/MONDO_0019130	tubular renal disease-cardiomyopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0019131	ossification anomalies-psychomotor developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		Ossification anomalies-psychomotor developmental delay syndrome is characterized by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodeling during ossification.
http://purl.obolibrary.org/obo/MONDO_0019133	visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterized by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).
http://purl.obolibrary.org/obo/MONDO_0019137	non-24-hour sleep-wake syndrome	http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder		Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.
http://purl.obolibrary.org/obo/MONDO_0019149	cholesteryl ester storage disease	http://purl.obolibrary.org/obo/MONDO_0800449	lysosomal acid lipase deficiency		A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
http://purl.obolibrary.org/obo/MONDO_0019151	oligocone trichromacy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision.
http://purl.obolibrary.org/obo/MONDO_0019153	brain malformation-congenital heart disease-postaxial polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Goossens-Devriendt syndrome is characterized by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.
http://purl.obolibrary.org/obo/MONDO_0019156	angioosteohypotrophic syndrome	http://purl.obolibrary.org/obo/MONDO_0005497	bone development disease		Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.
http://purl.obolibrary.org/obo/MONDO_0019157	myelodysplastic syndrome with ring sideroblasts	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS.
http://purl.obolibrary.org/obo/MONDO_0019158	tropical endomyocardial fibrosis	http://purl.obolibrary.org/obo/MONDO_0016345	non-familial restrictive cardiomyopathy		Tropical endomyocardial fibrosis is a restrictive cardiopathy, occurring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.
http://purl.obolibrary.org/obo/MONDO_0019160	primary progressive freezing gait	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.
http://purl.obolibrary.org/obo/MONDO_0019164	6q terminal deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016905	partial deletion of the long arm of chromosome 6		6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.
http://purl.obolibrary.org/obo/MONDO_0019167	immunoglobulin A vasculitis	http://purl.obolibrary.org/obo/MONDO_0800113	necrotizing vasculitis		A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.
http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema	http://purl.obolibrary.org/obo/MONDO_0019297	lymphedema		A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.
http://purl.obolibrary.org/obo/MONDO_0019177	odontoleukodystrophy	http://purl.obolibrary.org/obo/MONDO_0011897	leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism		A leukodystrophy characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0019178	auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.
http://purl.obolibrary.org/obo/MONDO_0019190	juvenile polyposis of infancy	http://purl.obolibrary.org/obo/MONDO_0017380	juvenile polyposis syndrome		Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.
http://purl.obolibrary.org/obo/MONDO_0019195	hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0011577	myopathy, proximal, and ophthalmoplegia		A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.
http://purl.obolibrary.org/obo/MONDO_0019196	Foix-Alajouanine syndrome	http://purl.obolibrary.org/obo/MONDO_0001256	arteriovenous hemangioma/malformation		Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterized by progressive ascending deficit over a period of several months or years.
http://purl.obolibrary.org/obo/MONDO_0019197	folinic acid-responsive seizures	http://purl.obolibrary.org/obo/MONDO_0019253	metabolic disease involving other neurotransmitter deficiency		A very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.
http://purl.obolibrary.org/obo/MONDO_0019198	sympathetic ophthalmia	http://purl.obolibrary.org/obo/MONDO_0017634	non-infectious anterior uveitis		Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.
http://purl.obolibrary.org/obo/MONDO_0019199	interstitial granulomatous dermatitis with arthritis	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.
http://purl.obolibrary.org/obo/MONDO_0019202	myxofibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0019204	respiratory bronchiolitis-interstitial lung disease syndrome	http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia		Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.
http://purl.obolibrary.org/obo/MONDO_0019205	trichodysplasia-amelogenesis imperfecta syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.
http://purl.obolibrary.org/obo/MONDO_0019207	DEND syndrome	http://purl.obolibrary.org/obo/MONDO_0100164	permanent neonatal diabetes mellitus		DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.
http://purl.obolibrary.org/obo/MONDO_0019208	Bickerstaff brainstem encephalitis	http://purl.obolibrary.org/obo/MONDO_0020068	postinfectious encephalitis		Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).
http://purl.obolibrary.org/obo/MONDO_0019210	cutaneous neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor		Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).
http://purl.obolibrary.org/obo/MONDO_0019234	peroxisome biogenesis disorder	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).
http://purl.obolibrary.org/obo/MONDO_0019256	sterol metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0045012	steroid metabolism disease		An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019259	classic phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0009861	phenylketonuria		Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.
http://purl.obolibrary.org/obo/MONDO_0019263	autosomal erythropoietic protoporphyria	http://purl.obolibrary.org/obo/MONDO_0001676	erythropoietic protoporphyria		Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
http://purl.obolibrary.org/obo/MONDO_0019264	alpha-N-acetylgalactosaminidase deficiency type 3	http://purl.obolibrary.org/obo/MONDO_0017779	alpha-N-acetylgalactosaminidase deficiency		Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.
http://purl.obolibrary.org/obo/MONDO_0019265	diazoxide-resistant focal hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0017186	diazoxide-resistant hyperinsulinism		Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.
http://purl.obolibrary.org/obo/MONDO_0019267	vitamin B12-unresponsive methylmalonic acidemia type mut-	http://purl.obolibrary.org/obo/MONDO_0009612	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0019283	nail anomaly	http://purl.obolibrary.org/obo/MONDO_0002884	nail disorder		A epidermal appendage anomaly that involves the nail.
http://purl.obolibrary.org/obo/MONDO_0019308	junctional epidermolysis bullosa inversa	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.
http://purl.obolibrary.org/obo/MONDO_0019310	recessive dystrophic epidermolysis bullosa inversa	http://purl.obolibrary.org/obo/MONDO_0009179	recessive dystrophic epidermolysis bullosa		Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.
http://purl.obolibrary.org/obo/MONDO_0019311	wooly hair nevus	http://purl.obolibrary.org/obo/MONDO_0008093	nevus, epidermal		Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.
http://purl.obolibrary.org/obo/MONDO_0019314	cutaneous mastocytoma	http://purl.obolibrary.org/obo/MONDO_0019023	cutaneous mastocytosis		Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.
http://purl.obolibrary.org/obo/MONDO_0019319	verrucous nevus	http://purl.obolibrary.org/obo/MONDO_0016831	linear verrucous nevus syndrome		A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.
http://purl.obolibrary.org/obo/MONDO_0019323	pemphigus erythematosus	http://purl.obolibrary.org/obo/MONDO_0006594	pemphigus		Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.
http://purl.obolibrary.org/obo/MONDO_0019328	macrocystic lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0002013	lymphangioma		A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces.
http://purl.obolibrary.org/obo/MONDO_0019335	mild hyperphenylalaninemia	http://purl.obolibrary.org/obo/MONDO_0009861	phenylketonuria		Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.
http://purl.obolibrary.org/obo/MONDO_0019336	Gardner syndrome	http://purl.obolibrary.org/obo/MONDO_0021055	classic familial adenomatous polyposis		Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.
http://purl.obolibrary.org/obo/MONDO_0019340	scleroderma	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).
http://purl.obolibrary.org/obo/MONDO_0019346	sialidosis type 1	http://purl.obolibrary.org/obo/MONDO_0031422	familial mucolipidosis		Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.
http://purl.obolibrary.org/obo/MONDO_0019355	adult-onset Still disease	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.
http://purl.obolibrary.org/obo/MONDO_0019357	congenital narrowing of cervical spinal canal	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (sagittal diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.
http://purl.obolibrary.org/obo/MONDO_0019364	pseudotyphus of California	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.
http://purl.obolibrary.org/obo/MONDO_0019372	solitary bone cyst	http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm		A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.
http://purl.obolibrary.org/obo/MONDO_0019374	CAMOS syndrome	http://purl.obolibrary.org/obo/MONDO_0020043	autosomal recessive congenital cerebellar ataxia		CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0019377	Mycoplasma encephalitis	http://purl.obolibrary.org/obo/MONDO_1030003	Mycoplasmoides infection		Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).
http://purl.obolibrary.org/obo/MONDO_0019384	encephalitis lethargica	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.
http://purl.obolibrary.org/obo/MONDO_0019386	progressive rubella panencephalitis	http://purl.obolibrary.org/obo/MONDO_0020648	rubella encephalitis		A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.
http://purl.obolibrary.org/obo/MONDO_0019387	macrostomia-preauricular tags-external ophthalmoplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0019388	pelvis syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
http://purl.obolibrary.org/obo/MONDO_0019392	syringocystadenoma papilliferum	http://purl.obolibrary.org/obo/MONDO_0021110	sweat gland adenoma		A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.
http://purl.obolibrary.org/obo/MONDO_0019393	idiopathic malabsorption due to bile acid synthesis defects	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.
http://purl.obolibrary.org/obo/MONDO_0019395	Hinman syndrome	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.
http://purl.obolibrary.org/obo/MONDO_0019396	collagen type III glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019722	glomerular disorder		A rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.
http://purl.obolibrary.org/obo/MONDO_0019399	Isaac syndrome	http://purl.obolibrary.org/obo/MONDO_0019119	muscular channelopathy		Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.
http://purl.obolibrary.org/obo/MONDO_0019406	craniofacial conodysplasia	http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia		Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.
http://purl.obolibrary.org/obo/MONDO_0019407	microcephalic osteodysplastic dysplasia, Saul-Wilson type	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.
http://purl.obolibrary.org/obo/MONDO_0019411	genochondromatosis type 1	http://purl.obolibrary.org/obo/MONDO_0007653	genochondromatosis		Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.
http://purl.obolibrary.org/obo/MONDO_0019412	dysspondyloenchondromatosis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
http://purl.obolibrary.org/obo/MONDO_0019413	ischio-vertebral syndrome	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0019416	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.
http://purl.obolibrary.org/obo/MONDO_0019417	X-linked intellectual disability-precocious puberty-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability-precocious puberty-obesity syndrome is characterized by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.
http://purl.obolibrary.org/obo/MONDO_0019418	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.
http://purl.obolibrary.org/obo/MONDO_0019419	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome.
http://purl.obolibrary.org/obo/MONDO_0019420	X-linked intellectual disability, Pai type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome.
http://purl.obolibrary.org/obo/MONDO_0019421	X-linked intellectual disability, Seemanova type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.
http://purl.obolibrary.org/obo/MONDO_0019422	X-linked intellectual disability, Stevenson type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.
http://purl.obolibrary.org/obo/MONDO_0019423	X-linked intellectual disability, Stoll type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.
http://purl.obolibrary.org/obo/MONDO_0019424	X-linked intellectual disability-acromegaly-hyperactivity syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.
http://purl.obolibrary.org/obo/MONDO_0019426	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.
http://purl.obolibrary.org/obo/MONDO_0019427	X-linked neurodegenerative syndrome, Bertini type	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.
http://purl.obolibrary.org/obo/MONDO_0019428	fried syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
http://purl.obolibrary.org/obo/MONDO_0019429	X-linked neurodegenerative syndrome, Hamel type	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.
http://purl.obolibrary.org/obo/MONDO_0019430	X-linked intellectual disability-ataxia-apraxia syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.
http://purl.obolibrary.org/obo/MONDO_0019431	primitive portal vein thrombosis	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.
http://purl.obolibrary.org/obo/MONDO_0019432	rheumatoid factor-negative juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0018456	polyarticular juvenile idiopathic arthritis		Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset.
http://purl.obolibrary.org/obo/MONDO_0019435	rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0018456	polyarticular juvenile idiopathic arthritis		A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.
http://purl.obolibrary.org/obo/MONDO_0019436	psoriasis-related juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0011849	psoriatic arthritis		Childhood arthritis typically associated with psoriasis.
http://purl.obolibrary.org/obo/MONDO_0019441	ATTRV122I amyloidosis	http://purl.obolibrary.org/obo/MONDO_0971004	amyloidosis, hereditary systemic 1		A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.
http://purl.obolibrary.org/obo/MONDO_0019444	trichinellosis	http://purl.obolibrary.org/obo/MONDO_0016128	parasitic myositis		A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.
http://purl.obolibrary.org/obo/MONDO_0019446	localized lichen myxedematosus	http://purl.obolibrary.org/obo/MONDO_0018432	lichen myxedematosus		Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.
http://purl.obolibrary.org/obo/MONDO_0019447	atypical lichen myxedematosus	http://purl.obolibrary.org/obo/MONDO_0018432	lichen myxedematosus		Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.
http://purl.obolibrary.org/obo/MONDO_0019449	lissencephaly type 3-familial fetal akinesia sequence syndrome	http://purl.obolibrary.org/obo/MONDO_0015148	lissencephaly type 3		Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.
http://purl.obolibrary.org/obo/MONDO_0019456	acute myeloid leukemia with multilineage dysplasia	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.
http://purl.obolibrary.org/obo/MONDO_0019461	B-cell prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0017595	aggressive B-cell non-Hodgkin lymphoma		A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0019465	nodal marginal zone B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017604	marginal zone lymphoma		Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.
http://purl.obolibrary.org/obo/MONDO_0019467	CD4+/CD56+ hematodermic neoplasm	http://purl.obolibrary.org/obo/MONDO_0015760	T-cell non-Hodgkin lymphoma		An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.
http://purl.obolibrary.org/obo/MONDO_0019468	T-cell prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0004963	T-cell acute lymphoblastic leukemia		A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.
http://purl.obolibrary.org/obo/MONDO_0019471	adult T-cell leukemia/lymphoma	http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor		A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa.
http://purl.obolibrary.org/obo/MONDO_0019472	extranodal nasal NK/T cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder		A rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.
http://purl.obolibrary.org/obo/MONDO_0019474	hepatosplenic T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015760	T-cell non-Hodgkin lymphoma		An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis.
http://purl.obolibrary.org/obo/MONDO_0019475	subcutaneous panniculitis-like T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015816	indolent primary cutaneous T-cell lymphoma		Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.
http://purl.obolibrary.org/obo/MONDO_0019478	adult nodular lymphocyte predominant Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0044778	nodular lymphocyte predominant Hodgkin lymphoma		A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults.
http://purl.obolibrary.org/obo/MONDO_0019479	histiocytic sarcoma	http://purl.obolibrary.org/obo/MONDO_0006247	histiocytic and dendritic cell neoplasm		An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
http://purl.obolibrary.org/obo/MONDO_0019483	methotrexate-associated lymphoproliferative disorders	http://purl.obolibrary.org/obo/MONDO_0020083	immunodeficiency-associated lymphoproliferative disease		Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.
http://purl.obolibrary.org/obo/MONDO_0019484	hypothalamic hamartomas with gelastic seizures	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.
http://purl.obolibrary.org/obo/MONDO_0019485	idiopathic hemiconvulsion-hemiplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.
http://purl.obolibrary.org/obo/MONDO_0019487	epilepsy with myoclonic absences	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.
http://purl.obolibrary.org/obo/MONDO_0019488	myoclonic epilepsy in non-progressive encephalopathies	http://purl.obolibrary.org/obo/MONDO_0100577	myoclonic epilepsy		A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.
http://purl.obolibrary.org/obo/MONDO_0019489	diffuse palmoplantar keratoderma - acrocyanosis syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0019493	primary adult heart tumor	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).
http://purl.obolibrary.org/obo/MONDO_0019494	primary pediatric heart tumor	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.
http://purl.obolibrary.org/obo/MONDO_0019506	obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.
http://purl.obolibrary.org/obo/MONDO_0019509	cutaneous leukocytoclastic angiitis	http://purl.obolibrary.org/obo/MONDO_0015491	immune complex mediated vasculitis		Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.
http://purl.obolibrary.org/obo/MONDO_0019521	centripetalis recessive dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.
http://purl.obolibrary.org/obo/MONDO_0019527	undifferentiated connective tissue syndrome	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.
http://purl.obolibrary.org/obo/MONDO_0019528	inflammatory pseudotumor of the liver	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.
http://purl.obolibrary.org/obo/MONDO_0019529	radiation myelitis	http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder		A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.
http://purl.obolibrary.org/obo/MONDO_0019531	hemolytic anemia due to glutathione reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0040566	inherited glutathione metabolism disease		Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.
http://purl.obolibrary.org/obo/MONDO_0019532	autoimmune hemolytic anemia, warm type	http://purl.obolibrary.org/obo/MONDO_0020108	autoimmune hemolytic anemia		Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).
http://purl.obolibrary.org/obo/MONDO_0019533	paroxysmal cold hemoglobinuria	http://purl.obolibrary.org/obo/MONDO_0016450	autoimmune hemolytic anemia, cold type		Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.
http://purl.obolibrary.org/obo/MONDO_0019534	mixed-type autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0020108	autoimmune hemolytic anemia		Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.
http://purl.obolibrary.org/obo/MONDO_0019535	drug-induced autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0020108	autoimmune hemolytic anemia		Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.
http://purl.obolibrary.org/obo/MONDO_0019536	Shiga toxin-associated hemolytic uremic syndrome	http://purl.obolibrary.org/obo/MONDO_0034103	infection-related hemolytic uremic syndrome		A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.
http://purl.obolibrary.org/obo/MONDO_0019540	diffuse alveolar hemorrhage	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A respiratory disorder characterized by diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.
http://purl.obolibrary.org/obo/MONDO_0019543	acquired aneurysmal subarachnoid hemorrhage	http://purl.obolibrary.org/obo/MONDO_0005099	subarachnoid hemorrhage		A serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.
http://purl.obolibrary.org/obo/MONDO_0019545	systemic monochloroacetate poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.
http://purl.obolibrary.org/obo/MONDO_0019549	severe early-onset axonal neuropathy due to MFN2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015358	hereditary motor and sensory neuropathy		A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.
http://purl.obolibrary.org/obo/MONDO_0019550	hereditary motor and sensory neuropathy with acrodystrophy	http://purl.obolibrary.org/obo/MONDO_0015358	hereditary motor and sensory neuropathy		A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.
http://purl.obolibrary.org/obo/MONDO_0019552	centrifugal lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0019194	localized lipodystrophy		Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.
http://purl.obolibrary.org/obo/MONDO_0019553	drug-induced localized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0019194	localized lipodystrophy		Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.
http://purl.obolibrary.org/obo/MONDO_0019554	idiopathic localized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).
http://purl.obolibrary.org/obo/MONDO_0019556	pressure-induced localized lipoatrophy	http://purl.obolibrary.org/obo/MONDO_0019194	localized lipodystrophy		Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.
http://purl.obolibrary.org/obo/MONDO_0019558	discoid lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0015574	chronic cutaneous lupus erythematosus		A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).
http://purl.obolibrary.org/obo/MONDO_0019562	localized scleroderma	http://purl.obolibrary.org/obo/MONDO_0019340	scleroderma		Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.
http://purl.obolibrary.org/obo/MONDO_0019568	Ehlers-Danlos syndrome, classic type, 2	http://purl.obolibrary.org/obo/MONDO_0007522	Ehlers-Danlos syndrome, classic type		Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.
http://purl.obolibrary.org/obo/MONDO_0019569	Cockayne syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0016006	Cockayne syndrome		Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.
http://purl.obolibrary.org/obo/MONDO_0019570	Cockayne syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0016006	Cockayne syndrome		Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
http://purl.obolibrary.org/obo/MONDO_0019574	secondary intestinal lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0018178	intestinal lymphangiectasia		Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.
http://purl.obolibrary.org/obo/MONDO_0019578	nodular lichen myxedematosus	http://purl.obolibrary.org/obo/MONDO_0019446	localized lichen myxedematosus		Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.
http://purl.obolibrary.org/obo/MONDO_0019579	discrete papular lichen myxedematosus	http://purl.obolibrary.org/obo/MONDO_0019446	localized lichen myxedematosus		Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.
http://purl.obolibrary.org/obo/MONDO_0019580	papular mucinosis of infancy	http://purl.obolibrary.org/obo/MONDO_0019446	localized lichen myxedematosus		Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.
http://purl.obolibrary.org/obo/MONDO_0019581	acral persistent papular mucinosis	http://purl.obolibrary.org/obo/MONDO_0019446	localized lichen myxedematosus		Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.
http://purl.obolibrary.org/obo/MONDO_0019582	self-healing papular mucinosis	http://purl.obolibrary.org/obo/MONDO_0019446	localized lichen myxedematosus		Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.
http://purl.obolibrary.org/obo/MONDO_0019583	localized lichen myxedematosus with mixed features of different subtypes	http://purl.obolibrary.org/obo/MONDO_0019447	atypical lichen myxedematosus		Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.
http://purl.obolibrary.org/obo/MONDO_0019584	localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	http://purl.obolibrary.org/obo/MONDO_0019447	atypical lichen myxedematosus		Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.
http://purl.obolibrary.org/obo/MONDO_0019585	scleromyxedema without monoclonal gammopathy	http://purl.obolibrary.org/obo/MONDO_0019447	atypical lichen myxedematosus		Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.
http://purl.obolibrary.org/obo/MONDO_0019603	osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.
http://purl.obolibrary.org/obo/MONDO_0019604	acquired monoclonal Ig light chain-associated Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0004960	monoclonal gammopathy		A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.
http://purl.obolibrary.org/obo/MONDO_0019606	simple cryoglobulinemia	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.
http://purl.obolibrary.org/obo/MONDO_0019607	unspecified juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0011429	juvenile idiopathic arthritis		Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.
http://purl.obolibrary.org/obo/MONDO_0019610	Zollinger-Ellison syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.
http://purl.obolibrary.org/obo/MONDO_0019611	TSH-secreting pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0003837	TSH producing pituitary tumor		A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.
http://purl.obolibrary.org/obo/MONDO_0019612	functioning gonadotropic adenoma	http://purl.obolibrary.org/obo/MONDO_0003429	functioning pituitary gland adenoma		Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).
http://purl.obolibrary.org/obo/MONDO_0019613	non-functioning pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0006373	pituitary gland adenoma		A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.
http://purl.obolibrary.org/obo/MONDO_0019620	congenital esophageal diverticulum	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.
http://purl.obolibrary.org/obo/MONDO_0019621	chronic pneumonitis of infancy	http://purl.obolibrary.org/obo/MONDO_0017019	interstitial lung disease specific to infancy		Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).
http://purl.obolibrary.org/obo/MONDO_0019622	non-specific interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia		Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.
http://purl.obolibrary.org/obo/MONDO_0019626	isolated ankyloblepharon filiforme adnatum	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.
http://purl.obolibrary.org/obo/MONDO_0019630	congenital ectropion uveae	http://purl.obolibrary.org/obo/MONDO_0011119	iridogoniodysgenesis		Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.
http://purl.obolibrary.org/obo/MONDO_0019636	renal agenesis, unilateral	http://purl.obolibrary.org/obo/MONDO_0018470	renal agenesis		Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.
http://purl.obolibrary.org/obo/MONDO_0019637	renal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.
http://purl.obolibrary.org/obo/MONDO_0019638	renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.
http://purl.obolibrary.org/obo/MONDO_0019639	congenital megacalycosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.
http://purl.obolibrary.org/obo/MONDO_0019640	posterior urethral valve	http://purl.obolibrary.org/obo/MONDO_0018559	fetal lower urinary tract obstruction		Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.
http://purl.obolibrary.org/obo/MONDO_0019641	Pauci-immune glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0002462	glomerulonephritis		Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.
http://purl.obolibrary.org/obo/MONDO_0019643	transient pseudohypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0018638	pseudohypoaldosteronism		Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.
http://purl.obolibrary.org/obo/MONDO_0019644	renal dysplasia, unilateral	http://purl.obolibrary.org/obo/MONDO_0019638	renal dysplasia		Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.
http://purl.obolibrary.org/obo/MONDO_0019645	renal dysplasia, bilateral	http://purl.obolibrary.org/obo/MONDO_0019638	renal dysplasia		Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.
http://purl.obolibrary.org/obo/MONDO_0019659	Pfeiffer syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007043	Pfeiffer syndrome		Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.
http://purl.obolibrary.org/obo/MONDO_0019660	Pfeiffer syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0007043	Pfeiffer syndrome		Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.
http://purl.obolibrary.org/obo/MONDO_0019661	Pfeiffer syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0007043	Pfeiffer syndrome		Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.
http://purl.obolibrary.org/obo/MONDO_0019666	spondyloepimetaphyseal dysplasia, PAPSS2 type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
http://purl.obolibrary.org/obo/MONDO_0019670	ulnar hemimelia	http://purl.obolibrary.org/obo/MONDO_0016240	hemimelia		Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.
http://purl.obolibrary.org/obo/MONDO_0019671	radial hemimelia	http://purl.obolibrary.org/obo/MONDO_0016240	hemimelia		Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.
http://purl.obolibrary.org/obo/MONDO_0019672	fibular hemimelia	http://purl.obolibrary.org/obo/MONDO_0016240	hemimelia		Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.
http://purl.obolibrary.org/obo/MONDO_0019680	genochondromatosis type 2	http://purl.obolibrary.org/obo/MONDO_0007653	genochondromatosis		Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.
http://purl.obolibrary.org/obo/MONDO_0020295	congenital pulmonary veins anomaly	http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease		Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.
http://purl.obolibrary.org/obo/MONDO_0020516	thymic neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0006451	thymic carcinoma		Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation.
http://purl.obolibrary.org/obo/MONDO_0021026	hereditary epidermal appendage anomaly	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0021036	keratosis pilaris	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A form of dry skin characterized by hair follicles plugged by scale.
http://purl.obolibrary.org/obo/MONDO_0021945	hearing disorder	http://purl.obolibrary.org/obo/MONDO_0024417	perceptual disorders		A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.
http://purl.obolibrary.org/obo/MONDO_0023370	neoplastic disease or syndrome	http://purl.obolibrary.org/obo/MONDO_0045024	cancer or benign tumor		Either an isolated neoplasm or a syndrome with neoplasm as a major feature.
http://purl.obolibrary.org/obo/MONDO_0024246	syringofibroadenoma	http://purl.obolibrary.org/obo/MONDO_0021110	sweat gland adenoma		A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.
http://purl.obolibrary.org/obo/FOODON_00002454	food material by characteristic	http://purl.obolibrary.org/obo/FOODON_00002403	food material		Food material which has been categorized by a characteristic such as granularity or temperature.
http://purl.obolibrary.org/obo/MONDO_0024313	staphylococcal infection	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		An infection caused by Staphylococcus.
http://purl.obolibrary.org/obo/MONDO_0024322	disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		A disease that has its basis in the disruption of glycosylation.
http://purl.obolibrary.org/obo/CL_0008031	cortical interneuron	http://purl.obolibrary.org/obo/CL_0010012	cerebral cortex neuron		An interneuron that has its soma located in the cerebral cortex.
http://purl.obolibrary.org/obo/ENVO_01001434	anthropogenic ecosystem conversion process	http://purl.obolibrary.org/obo/ENVO_02500027	anthropogenic environmental process		A process during which an ecosystem - natural or anthropised - is changed by the actions of humans.
http://purl.obolibrary.org/obo/ENVO_01001476	body of liquid	http://purl.obolibrary.org/obo/ENVO_01001477	liquid astronomical body part		A liquid astronomical body part which is continuous and is delimited by physical discontinuities or non-liquid boundaries.
http://purl.obolibrary.org/obo/ENVO_01001477	liquid astronomical body part	http://purl.obolibrary.org/obo/ENVO_01001784	compound astronomical body part		A part of an astronomical body which is primarily composed of liquid material.
http://purl.obolibrary.org/obo/ENVO_01001478	gaseous astronomical body part	http://purl.obolibrary.org/obo/ENVO_01001784	compound astronomical body part		A part of an astronomical body which is primarily composed of gaseous material.
http://purl.obolibrary.org/obo/ENVO_01001483	surface of an astronomical body	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		A surface layer where the solid or liquid material of an astronomical body comes into contact with an atmosphere or outer space.
http://purl.obolibrary.org/obo/ENVO_01001491	flattened elevation	http://purl.obolibrary.org/obo/ENVO_00000176	elevated landform		An elevation which is flattened across its highest surface.
http://purl.obolibrary.org/obo/ENVO_01001526	frozen soil	http://purl.obolibrary.org/obo/ENVO_00001998	soil		Soil which is below the freezing point of water.
http://purl.obolibrary.org/obo/ENVO_01001549	freezing of water into water ice	http://purl.obolibrary.org/obo/ENVO_02500031	hydrological process		A freezing process during which liquid water is transformed into water ice.
http://purl.obolibrary.org/obo/ENVO_01001554	surface layer of a water body	http://purl.obolibrary.org/obo/ENVO_01001308	hydroform		A water surface that is part of a water body.
http://purl.obolibrary.org/obo/ENVO_01001570	terrestrial ecoregion	http://purl.obolibrary.org/obo/ENVO_01000276	ecoregion		An ecoregion which is located on a landmass.
http://purl.obolibrary.org/obo/ENVO_01001581	sea surface layer	http://purl.obolibrary.org/obo/ENVO_01000295	marine layer		A surface layer which is part of an ocean or sea.
http://purl.obolibrary.org/obo/ENVO_09200017	composition of water	http://purl.obolibrary.org/obo/PATO_0000025	composition		The composition of some water.
http://purl.obolibrary.org/obo/ENVO_3100004	concentration of ammonium in liquid water	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of ammonium when measured in liquid water.
http://purl.obolibrary.org/obo/ENVO_3100011	concentration of dioxygen in liquid water	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of dioxygen when measured in liquid water.
http://purl.obolibrary.org/obo/ENVO_3100026	concentration of phosphate in liquid water	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of phosphate when measured in liquid water.
http://purl.obolibrary.org/obo/ENVO_3100033	pressure of water	http://purl.obolibrary.org/obo/PATO_0001025	pressure		The pressure of some water.
http://purl.obolibrary.org/obo/FOODON_00002581	aquatic invertebrate	http://purl.obolibrary.org/obo/FOODON_00002452	invertebrate animal		An aquatic invertebrate may live entirely beneath the water, or may live upon its surface or on the plants surrounding it. Some breathe air, others breathe water. To move, they may walk, swim, float, skate, fly or glide on their bellies—or they may not move much at all.
http://purl.obolibrary.org/obo/MF_0000073	intentionality	http://purl.obolibrary.org/obo/MF_0000075	mental quality		Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something.
http://purl.obolibrary.org/obo/MF_0000074	bodily quality	http://purl.obolibrary.org/obo/BFO_0000019	quality		A bodily quality is a quality that inheres in some extended organism.
http://purl.obolibrary.org/obo/MF_0000075	mental quality	http://purl.obolibrary.org/obo/MF_0000074	bodily quality		A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning.
http://purl.obolibrary.org/obo/MF_0000076	intentional modality	http://purl.obolibrary.org/obo/MF_0000033	mental disposition		A structural capacity that shapes how an object of intentionality is represented for the subject.
http://purl.obolibrary.org/obo/ECTO_0000172	exposure to methotrexate	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to methotrexate.
http://purl.obolibrary.org/obo/ECTO_0010000	exposure to environmental quality	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to characteristic.
http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality	http://purl.obolibrary.org/obo/ECTO_0010000	exposure to environmental quality		A exposure event involving the interaction of an exposure receptor to qualitative.
http://purl.obolibrary.org/obo/ECTO_0010002	exposure to environmental process quality	http://purl.obolibrary.org/obo/ECTO_0010000	exposure to environmental quality		A exposure event involving the interaction of an exposure receptor to process quality.
http://purl.obolibrary.org/obo/ECTO_0010003	exposure to environmental physical object quality	http://purl.obolibrary.org/obo/ECTO_0010000	exposure to environmental quality		A exposure event involving the interaction of an exposure receptor to physical object quality.
http://purl.obolibrary.org/obo/ECTO_0500000	exposure to environmental disposition	http://purl.obolibrary.org/obo/ECTO_0010000	exposure to environmental quality		A exposure event involving the interaction of an exposure receptor to environmental disposition.
http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy	http://purl.obolibrary.org/obo/ECTO_2000000	exposure to medical action		An exposure to pharmacotherapy.
http://purl.obolibrary.org/obo/ECTO_3000001	exposure to virus	http://purl.obolibrary.org/obo/ECTO_3000000	exposure to organism		A history of exposure to Viruses.
http://purl.obolibrary.org/obo/ECTO_3000002	exposure to Enterovirus	http://purl.obolibrary.org/obo/ECTO_3000001	exposure to virus		A history of exposure to Enterovirus.
http://purl.obolibrary.org/obo/ECTO_3000003	exposure to Helicobacter pylori	http://purl.obolibrary.org/obo/ECTO_3000000	exposure to organism		A history of exposure to Helicobacter pylori.
http://purl.obolibrary.org/obo/ECTO_3000004	exposure to Papillomaviridae	http://purl.obolibrary.org/obo/ECTO_3000001	exposure to virus		A history of exposure to Papillomaviridae.
http://purl.obolibrary.org/obo/ECTO_4000001	exposure to increased temperature	http://purl.obolibrary.org/obo/ECTO_0010003	exposure to environmental physical object quality		A exposure event involving the interaction of an exposure receptor to increased temperature.
http://purl.obolibrary.org/obo/ECTO_4000002	exposure to increased salt	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to increased amount of salt.
http://purl.obolibrary.org/obo/ECTO_4000003	exposure to decreased salt	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to decreased amount of salt.
http://purl.obolibrary.org/obo/ECTO_4000006	exposure to increased glucose	http://purl.obolibrary.org/obo/ECTO_4000010	exposure to increased monosaccharide		A exposure event involving the interaction of an exposure receptor to increased amount of glucose.
http://purl.obolibrary.org/obo/ECTO_4000009	exposure to increased protein	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to increased amount of protein.
http://purl.obolibrary.org/obo/ECTO_4000010	exposure to increased monosaccharide	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to increased amount of monosaccharide.
http://purl.obolibrary.org/obo/ECTO_4000011	exposure to increased cholesterol	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to increased amount of cholesterol.
http://purl.obolibrary.org/obo/ECTO_4000015	exposure to decreased glucose	http://purl.obolibrary.org/obo/ECTO_4000019	exposure to decreased monosaccharide		A exposure event involving the interaction of an exposure receptor to decreased amount of glucose.
http://purl.obolibrary.org/obo/ECTO_4000018	exposure to decreased protein	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to decreased amount of protein.
http://purl.obolibrary.org/obo/ECTO_4000019	exposure to decreased monosaccharide	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to decreased amount of monosaccharide.
http://purl.obolibrary.org/obo/ECTO_4000020	exposure to decreased cholesterol	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to decreased amount of cholesterol.
http://purl.obolibrary.org/obo/ECTO_4000025	exposure to increased pressure	http://purl.obolibrary.org/obo/ECTO_0010003	exposure to environmental physical object quality		A exposure event involving the interaction of an exposure receptor to increased pressure.
http://purl.obolibrary.org/obo/ECTO_4000026	exposure to decreased pressure	http://purl.obolibrary.org/obo/ECTO_0010003	exposure to environmental physical object quality		A exposure event involving the interaction of an exposure receptor to decreased pressure.
http://purl.obolibrary.org/obo/ECTO_4000027	exposure to freezing water	http://purl.obolibrary.org/obo/ECTO_0000979	exposure to temperature of environmental surroundings		A exposure event involving the interaction of an exposure receptor to frozen of liquid water.
http://purl.obolibrary.org/obo/ECTO_4000028	exposure to freezing air	http://purl.obolibrary.org/obo/ECTO_0000980	exposure to temperature of air in surroundings		A exposure event involving the interaction of an exposure receptor to frozen of air.
http://purl.obolibrary.org/obo/ECTO_4000029	exposure to increased soil temperature	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to increased amount of temperature of soil.
http://purl.obolibrary.org/obo/ECTO_4000030	exposure to decreased soil temperature	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of soil.
http://purl.obolibrary.org/obo/ECTO_4000031	exposure to increased water temperature	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to increased amount of temperature of water.
http://purl.obolibrary.org/obo/ECTO_4000032	exposure to decreased water temperature	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of water.
http://purl.obolibrary.org/obo/ECTO_6000016	exposure to personal behavior	http://purl.obolibrary.org/obo/ECTO_6000000	exposure to behavior		An exposure event involving Personal Behavior
http://purl.obolibrary.org/obo/ECTO_6000022	exposure to drinking behavior	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		An exposure event involving drinking behavior
http://purl.obolibrary.org/obo/ECTO_6000024	exposure to clinical or research activity	http://purl.obolibrary.org/obo/ECTO_6000000	exposure to behavior		An exposure event involving Clinical or Research Activity
http://purl.obolibrary.org/obo/ECTO_7000063	exposure to water in environment	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to liquid water.
http://purl.obolibrary.org/obo/ECTO_7000064	exposure to air	http://purl.obolibrary.org/obo/ECTO_7000058	exposure to gaseous environmental material		A exposure event involving the interaction of an exposure receptor to air.
http://purl.obolibrary.org/obo/ECTO_7000068	exposure to particulate matter	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to particulate environmental material.
http://purl.obolibrary.org/obo/ECTO_7000069	exposure to organic material	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to organic material.
http://purl.obolibrary.org/obo/ECTO_7000070	exposure to snow	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to snow.
http://purl.obolibrary.org/obo/ECTO_7000073	exposure to mineral material	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to mineral material.
http://purl.obolibrary.org/obo/ECTO_7000075	exposure to permafrost	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to permafrost.
http://purl.obolibrary.org/obo/ECTO_7000083	exposure to contaminated sediment	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to chemically enriched sediment.
http://purl.obolibrary.org/obo/ECTO_7000092	exposure to waste material	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to waste material.
http://purl.obolibrary.org/obo/ECTO_7000101	exposure to bagasse	http://purl.obolibrary.org/obo/ECTO_7000092	exposure to waste material		A exposure event involving the interaction of an exposure receptor to bagasse.
http://purl.obolibrary.org/obo/ECTO_7000106	exposure to silage	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to silage.
http://purl.obolibrary.org/obo/ECTO_7000114	exposure to aerosol	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to aerosol.
http://purl.obolibrary.org/obo/ECTO_7000119	exposure to contaminated water	http://purl.obolibrary.org/obo/ECTO_7000063	exposure to water in environment		A exposure event involving the interaction of an exposure receptor to contaminated water.
http://purl.obolibrary.org/obo/ECTO_7000122	exposure to sea water	http://purl.obolibrary.org/obo/ECTO_7000063	exposure to water in environment		A exposure event involving the interaction of an exposure receptor to sea water.
http://purl.obolibrary.org/obo/ECTO_8000015	exposure to desertification	http://purl.obolibrary.org/obo/ECTO_8000000	exposure to environmental process		A exposure event involving the interaction of an exposure receptor to desertification.
http://purl.obolibrary.org/obo/ECTO_8000017	exposure to atmospheric process	http://purl.obolibrary.org/obo/ECTO_8000000	exposure to environmental process		A exposure event involving the interaction of an exposure receptor to atmospheric process.
http://purl.obolibrary.org/obo/ECTO_8000035	exposure to anthropogenic modulatory intervention process	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to anthropogenic modulatory intervention process.
http://purl.obolibrary.org/obo/ECTO_9000154	exposure to amphetamine	http://purl.obolibrary.org/obo/ECTO_9000203	exposure to amine		An exposure to amphetamine.
http://purl.obolibrary.org/obo/ECTO_9000156	exposure to water	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to water.
http://purl.obolibrary.org/obo/ECTO_9000162	exposure to carbohydrate	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to carbohydrate.
http://purl.obolibrary.org/obo/ECTO_9000164	exposure to hexose	http://purl.obolibrary.org/obo/ECTO_9000239	exposure to monosaccharide		An exposure to hexose.
http://purl.obolibrary.org/obo/ECTO_9000165	exposure to glucose	http://purl.obolibrary.org/obo/ECTO_9000164	exposure to hexose		An exposure to glucose.
http://purl.obolibrary.org/obo/ECTO_9000167	exposure to salicylic acid	http://purl.obolibrary.org/obo/ECTO_9001353	exposure to phenols		An exposure to salicylic acid.
http://purl.obolibrary.org/obo/ECTO_9000171	exposure to acetate	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to acetate.
http://purl.obolibrary.org/obo/ECTO_9000172	exposure to inorganic compound	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to inorganic molecular entity.
http://purl.obolibrary.org/obo/ECTO_9000175	exposure to metal cation	http://purl.obolibrary.org/obo/ECTO_9000172	exposure to inorganic compound		An exposure to metal cation.
http://purl.obolibrary.org/obo/ECTO_9000176	exposure to iron cation	http://purl.obolibrary.org/obo/ECTO_9000087	exposure to iron		An exposure to iron cation.
http://purl.obolibrary.org/obo/ECTO_9000190	exposure to organonitrogen compound	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to organonitrogen compound.
http://purl.obolibrary.org/obo/ECTO_9000202	exposure to purines	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to purines.
http://purl.obolibrary.org/obo/ECTO_9000203	exposure to amine	http://purl.obolibrary.org/obo/ECTO_9000190	exposure to organonitrogen compound		An exposure to amine.
http://purl.obolibrary.org/obo/ECTO_9000216	exposure to retinoic acid	http://purl.obolibrary.org/obo/ECTO_9001346	exposure to retinoid		An exposure to retinoic acid.
http://purl.obolibrary.org/obo/ECTO_9000229	exposure to cobalamin	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to cobalamin.
http://purl.obolibrary.org/obo/ECTO_9000239	exposure to monosaccharide	http://purl.obolibrary.org/obo/ECTO_9000162	exposure to carbohydrate		An exposure to monosaccharide.
http://purl.obolibrary.org/obo/ECTO_9000243	exposure to vitamin B6	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to vitamin B6.
http://purl.obolibrary.org/obo/ECTO_9000253	exposure to potassium(1+)	http://purl.obolibrary.org/obo/ECTO_9000175	exposure to metal cation		An exposure to potassium(1+).
http://purl.obolibrary.org/obo/ECTO_9000264	exposure to sterol	http://purl.obolibrary.org/obo/ECTO_0002002	exposure to steroid		An exposure to sterol.
http://purl.obolibrary.org/obo/ECTO_9000265	exposure to cocaine	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to cocaine.
http://purl.obolibrary.org/obo/ECTO_9000268	exposure to amino acid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to amino acid.
http://purl.obolibrary.org/obo/ECTO_9000269	exposure to leucine	http://purl.obolibrary.org/obo/ECTO_9000268	exposure to amino acid		An exposure to leucine.
http://purl.obolibrary.org/obo/ECTO_9000271	exposure to alkaloid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to alkaloid.
http://purl.obolibrary.org/obo/ECTO_9000273	exposure to peptide hormone	http://purl.obolibrary.org/obo/ECTO_9000402	exposure to peptide		An exposure to peptide hormone.
http://purl.obolibrary.org/obo/ECTO_9000278	exposure to ether	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to ether.
http://purl.obolibrary.org/obo/ECTO_9000282	exposure to carbamate	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to carbamate.
http://purl.obolibrary.org/obo/ECTO_9000284	exposure to organophosphorus compound	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to organophosphorus compound.
http://purl.obolibrary.org/obo/ECTO_9000294	exposure to mineralocorticoid	http://purl.obolibrary.org/obo/ECTO_0000258	exposure to steroid hormone		An exposure to mineralocorticoid.
http://purl.obolibrary.org/obo/ECTO_9000303	exposure to lipoprotein	http://purl.obolibrary.org/obo/ECTO_9002133	exposure to protein		An exposure to lipoprotein.
http://purl.obolibrary.org/obo/ECTO_9000304	exposure to ammonium ion	http://purl.obolibrary.org/obo/ECTO_9000404	exposure to nitrogen		An exposure to ammonium ion derivative.
http://purl.obolibrary.org/obo/ECTO_9000308	exposure to fatty acid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to fatty acid.
http://purl.obolibrary.org/obo/ECTO_9000310	exposure to cholesterol	http://purl.obolibrary.org/obo/ECTO_9000026	exposure to alcohol		An exposure to cholesterol.
http://purl.obolibrary.org/obo/ECTO_9000311	exposure to biotin	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to biotin.
http://purl.obolibrary.org/obo/ECTO_9000339	exposure to benzoic acid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to benzoic acid.
http://purl.obolibrary.org/obo/ECTO_9000343	exposure to phenylalanine	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to phenylalanine.
http://purl.obolibrary.org/obo/ECTO_9000364	exposure to tetracycline	http://purl.obolibrary.org/obo/ECTO_9000044	exposure to ketone		An exposure to tetracycline.
http://purl.obolibrary.org/obo/ECTO_9000376	exposure to formic acid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to formic acid.
http://purl.obolibrary.org/obo/ECTO_9000387	exposure to paracetamol	http://purl.obolibrary.org/obo/ECTO_9001353	exposure to phenols		An exposure to paracetamol.
http://purl.obolibrary.org/obo/ECTO_9000395	exposure to paraquat	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to paraquat.
http://purl.obolibrary.org/obo/ECTO_9000402	exposure to peptide	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to peptide.
http://purl.obolibrary.org/obo/ECTO_9000404	exposure to nitrogen	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to nitrogen molecular entity.
http://purl.obolibrary.org/obo/ECTO_9000407	exposure to ketamine	http://purl.obolibrary.org/obo/ECTO_9000044	exposure to ketone		An exposure to ketamine.
http://purl.obolibrary.org/obo/ECTO_9000408	exposure to L-glutamate(2-)	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to L-glutamate(2-).
http://purl.obolibrary.org/obo/ECTO_9000409	exposure to salt	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to salt.
http://purl.obolibrary.org/obo/ECTO_9000426	exposure to alkane	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to alkane.
http://purl.obolibrary.org/obo/ECTO_9000433	exposure to polycyclic arene	http://purl.obolibrary.org/obo/ECTO_9002148	exposure to polycyclic hydrocarbon		An exposure to polycyclic arene.
http://purl.obolibrary.org/obo/ECTO_9000436	exposure to glycoside	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to glycoside.
http://purl.obolibrary.org/obo/ECTO_9000439	exposure to acetylsalicylate	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to acetylsalicylate.
http://purl.obolibrary.org/obo/ECTO_9000449	exposure to cyanide	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to cyanide.
http://purl.obolibrary.org/obo/ECTO_9000458	exposure to aldosterone	http://purl.obolibrary.org/obo/ECTO_9000044	exposure to ketone		An exposure to aldosterone.
http://purl.obolibrary.org/obo/ECTO_9000470	exposure to L-phenylalanine derivative	http://purl.obolibrary.org/obo/ECTO_9000190	exposure to organonitrogen compound		An exposure to L-phenylalanine derivative.
http://purl.obolibrary.org/obo/ECTO_9000475	exposure to L-dopa	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to L-dopa.
http://purl.obolibrary.org/obo/ECTO_9000487	exposure to glycoprotein	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to glycoprotein.
http://purl.obolibrary.org/obo/ECTO_9000494	exposure to diterpene	http://purl.obolibrary.org/obo/ECTO_0000200	exposure to lipid		An exposure to diterpene.
http://purl.obolibrary.org/obo/ECTO_9000519	exposure to dioxygen	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to dioxygen.
http://purl.obolibrary.org/obo/ECTO_9000703	exposure to (R)-amphetamine	http://purl.obolibrary.org/obo/ECTO_9000203	exposure to amine		An exposure to (R)-amphetamine.
http://purl.obolibrary.org/obo/ECTO_9000708	exposure to (S)-amphetamine	http://purl.obolibrary.org/obo/ECTO_9000203	exposure to amine		An exposure to (S)-amphetamine.
http://purl.obolibrary.org/obo/ECTO_9000940	exposure to barium	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to barium molecular entity.
http://purl.obolibrary.org/obo/ECTO_9000941	exposure to beryllium	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to beryllium molecular entity.
http://purl.obolibrary.org/obo/ECTO_9000943	exposure to cobalt	http://purl.obolibrary.org/obo/ECTO_0000481	exposure to transition element		An exposure to cobalt molecular entity.
http://purl.obolibrary.org/obo/ECTO_9000946	exposure to manganese	http://purl.obolibrary.org/obo/ECTO_0000481	exposure to transition element		An exposure to manganese molecular entity.
http://purl.obolibrary.org/obo/ECTO_9001111	exposure to ethylene glycol	http://purl.obolibrary.org/obo/ECTO_9002156	exposure to glycol		An exposure to ethylene glycol.
http://purl.obolibrary.org/obo/ECTO_9001137	exposure to hydrogen cyanide	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to hydrogen cyanide.
http://purl.obolibrary.org/obo/ECTO_9001227	exposure to phosphorus	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to phosphorus molecular entity.
http://purl.obolibrary.org/obo/ECTO_9001234	exposure to isopropyl group	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to isopropyl group.
http://purl.obolibrary.org/obo/ECTO_9001332	exposure to squalene	http://purl.obolibrary.org/obo/ECTO_0000200	exposure to lipid		An exposure to squalene.
http://purl.obolibrary.org/obo/ECTO_9001334	exposure to primary alcohol	http://purl.obolibrary.org/obo/ECTO_9000026	exposure to alcohol		An exposure to primary alcohol.
http://purl.obolibrary.org/obo/ECTO_9001339	exposure to polysaccharide	http://purl.obolibrary.org/obo/ECTO_9000162	exposure to carbohydrate		An exposure to polysaccharide.
http://purl.obolibrary.org/obo/ECTO_9001345	exposure to phosphate	http://purl.obolibrary.org/obo/ECTO_9001227	exposure to phosphorus		An exposure to phosphate.
http://purl.obolibrary.org/obo/ECTO_9001346	exposure to retinoid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to retinoid.
http://purl.obolibrary.org/obo/ECTO_9001347	exposure to sodium chloride	http://purl.obolibrary.org/obo/ECTO_9000077	exposure to chlorine		An exposure to sodium chloride.
http://purl.obolibrary.org/obo/ECTO_9001353	exposure to phenols	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to phenols.
http://purl.obolibrary.org/obo/ECTO_9001359	exposure to sulfonamide	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to sulfonamide.
http://purl.obolibrary.org/obo/ECTO_9001374	exposure to isotretinoin	http://purl.obolibrary.org/obo/ECTO_9000216	exposure to retinoic acid		An exposure to isotretinoin.
http://purl.obolibrary.org/obo/ECTO_9001456	exposure to ferric oxide	http://purl.obolibrary.org/obo/ECTO_9000087	exposure to iron		An exposure to ferric oxide.
http://purl.obolibrary.org/obo/ECTO_9001460	exposure to isobutane	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		An exposure to isobutane.
http://purl.obolibrary.org/obo/ECTO_9001492	exposure to propane	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		An exposure to propane.
http://purl.obolibrary.org/obo/ECTO_9001494	exposure to propionic acid	http://purl.obolibrary.org/obo/ECTO_9000308	exposure to fatty acid		An exposure to propionic acid.
http://purl.obolibrary.org/obo/ECTO_9001621	exposure to volatile organic compound	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to volatile organic compound.
http://purl.obolibrary.org/obo/ECTO_9001627	exposure to inorganic acid	http://purl.obolibrary.org/obo/ECTO_0000650	exposure to Bronsted acid		An exposure to inorganic acid.
http://purl.obolibrary.org/obo/ECTO_9001628	exposure to gas molecular entity	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to gas molecular entity.
http://purl.obolibrary.org/obo/ECTO_9001630	exposure to endocrine disruptor	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to endocrine disruptor.
http://purl.obolibrary.org/obo/ECTO_9001631	exposure to metalloid	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to metalloid atom.
http://purl.obolibrary.org/obo/ECTO_9001639	exposure to EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001640	exposure to electron donor	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to electron donor.
http://purl.obolibrary.org/obo/ECTO_9001647	exposure to antioxidant	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to antioxidant.
http://purl.obolibrary.org/obo/ECTO_9001652	exposure to EC 4.2.1.1 (carbonic anhydrase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 4.2.1.1 (carbonic anhydrase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001654	exposure to coenzyme	http://purl.obolibrary.org/obo/ECTO_9001655	exposure to cofactor		An exposure to coenzyme.
http://purl.obolibrary.org/obo/ECTO_9001655	exposure to cofactor	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to cofactor.
http://purl.obolibrary.org/obo/ECTO_9001661	exposure to fat-soluble vitamin	http://purl.obolibrary.org/obo/ECTO_9001691	exposure to vitamin		An exposure to fat-soluble vitamin (role).
http://purl.obolibrary.org/obo/ECTO_9001664	exposure to EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001683	exposure to prosthetic group	http://purl.obolibrary.org/obo/ECTO_9001655	exposure to cofactor		An exposure to prosthetic group.
http://purl.obolibrary.org/obo/ECTO_9001687	exposure to micronutrient	http://purl.obolibrary.org/obo/ECTO_9001695	exposure to nutrient		An exposure to micronutrient.
http://purl.obolibrary.org/obo/ECTO_9001689	exposure to water-soluble vitamin	http://purl.obolibrary.org/obo/ECTO_9001691	exposure to vitamin		An exposure to water-soluble vitamin (role).
http://purl.obolibrary.org/obo/ECTO_9001691	exposure to vitamin	http://purl.obolibrary.org/obo/ECTO_9001687	exposure to micronutrient		An exposure to vitamin (role).
http://purl.obolibrary.org/obo/ECTO_9001694	exposure to antibacterial agent	http://purl.obolibrary.org/obo/ECTO_0000544	exposure to antimicrobial agent		An exposure to antibacterial agent.
http://purl.obolibrary.org/obo/ECTO_9001695	exposure to nutrient	http://purl.obolibrary.org/obo/ECTO_9002063	exposure to food component		An exposure to nutrient.
http://purl.obolibrary.org/obo/ECTO_9001696	exposure to agrochemical	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to agrochemical.
http://purl.obolibrary.org/obo/ECTO_9001699	exposure to fuel	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to fuel.
http://purl.obolibrary.org/obo/ECTO_9001700	exposure to diagnostic agent	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to diagnostic agent.
http://purl.obolibrary.org/obo/ECTO_9001701	exposure to reagent	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to reagent.
http://purl.obolibrary.org/obo/ECTO_9001702	exposure to macronutrient	http://purl.obolibrary.org/obo/ECTO_9001695	exposure to nutrient		An exposure to macronutrient.
http://purl.obolibrary.org/obo/ECTO_9001704	exposure to plant growth retardant	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to plant growth retardant.
http://purl.obolibrary.org/obo/ECTO_9001705	exposure to antimetabolite	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to antimetabolite.
http://purl.obolibrary.org/obo/ECTO_9001707	exposure to catalyst	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to catalyst.
http://purl.obolibrary.org/obo/ECTO_9001709	exposure to fossil fuel	http://purl.obolibrary.org/obo/ECTO_9001699	exposure to fuel		An exposure to fossil fuel.
http://purl.obolibrary.org/obo/ECTO_9001710	exposure to central nervous system stimulant	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to central nervous system stimulant.
http://purl.obolibrary.org/obo/ECTO_9001711	exposure to antiinfective agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to antiinfective agent.
http://purl.obolibrary.org/obo/ECTO_9001712	exposure to antiparasitic agent	http://purl.obolibrary.org/obo/ECTO_9001711	exposure to antiinfective agent		An exposure to antiparasitic agent.
http://purl.obolibrary.org/obo/ECTO_9001716	exposure to antidepressant	http://purl.obolibrary.org/obo/ECTO_9001717	exposure to psychotropic drug		An exposure to antidepressant.
http://purl.obolibrary.org/obo/ECTO_9001717	exposure to psychotropic drug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to psychotropic drug.
http://purl.obolibrary.org/obo/ECTO_9001718	exposure to anti-inflammatory drug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to anti-inflammatory drug.
http://purl.obolibrary.org/obo/ECTO_9001720	exposure to non-steroidal anti-inflammatory drug	http://purl.obolibrary.org/obo/ECTO_9001753	exposure to antirheumatic drug		An exposure to non-steroidal anti-inflammatory drug.
http://purl.obolibrary.org/obo/ECTO_9001722	exposure to analgesic	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to analgesic.
http://purl.obolibrary.org/obo/ECTO_9001723	exposure to non-narcotic analgesic	http://purl.obolibrary.org/obo/ECTO_9001722	exposure to analgesic		An exposure to non-narcotic analgesic.
http://purl.obolibrary.org/obo/ECTO_9001726	exposure to central nervous system depressant	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to central nervous system depressant.
http://purl.obolibrary.org/obo/ECTO_9001727	exposure to antipyretic	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to antipyretic.
http://purl.obolibrary.org/obo/ECTO_9001728	exposure to diuretic	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to diuretic.
http://purl.obolibrary.org/obo/ECTO_9001731	exposure to bronchodilator agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to bronchodilator agent.
http://purl.obolibrary.org/obo/ECTO_9001732	exposure to sympathomimetic agent	http://purl.obolibrary.org/obo/ECTO_9001773	exposure to adrenergic agent		An exposure to sympathomimetic agent.
http://purl.obolibrary.org/obo/ECTO_9001733	exposure to hypoglycemic agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to hypoglycemic agent.
http://purl.obolibrary.org/obo/ECTO_9001735	exposure to EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001737	exposure to antineoplastic agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to antineoplastic agent.
http://purl.obolibrary.org/obo/ECTO_9001740	exposure to anticonvulsant	http://purl.obolibrary.org/obo/ECTO_9001726	exposure to central nervous system depressant		An exposure to anticonvulsant.
http://purl.obolibrary.org/obo/ECTO_9001742	exposure to adrenergic uptake inhibitor	http://purl.obolibrary.org/obo/ECTO_9001773	exposure to adrenergic agent		An exposure to adrenergic uptake inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001746	exposure to xenobiotic	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to xenobiotic.
http://purl.obolibrary.org/obo/ECTO_9001747	exposure to immunosuppressive agent	http://purl.obolibrary.org/obo/ECTO_9001869	exposure to immunomodulator		An exposure to immunosuppressive agent.
http://purl.obolibrary.org/obo/ECTO_9001749	exposure to antifungal agent	http://purl.obolibrary.org/obo/ECTO_0000544	exposure to antimicrobial agent		An exposure to antifungal agent.
http://purl.obolibrary.org/obo/ECTO_9001751	exposure to antiprotozoal drug	http://purl.obolibrary.org/obo/ECTO_9001755	exposure to antimicrobial drug		An exposure to antiprotozoal drug.
http://purl.obolibrary.org/obo/ECTO_9001753	exposure to antirheumatic drug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to antirheumatic drug.
http://purl.obolibrary.org/obo/ECTO_9001754	exposure to lipoxygenase inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to lipoxygenase inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001755	exposure to antimicrobial drug	http://purl.obolibrary.org/obo/ECTO_0000544	exposure to antimicrobial agent		An exposure to antimicrobial drug.
http://purl.obolibrary.org/obo/ECTO_9001757	exposure to antibacterial drug	http://purl.obolibrary.org/obo/ECTO_9001755	exposure to antimicrobial drug		An exposure to antibacterial drug.
http://purl.obolibrary.org/obo/ECTO_9001759	exposure to local anaesthetic	http://purl.obolibrary.org/obo/ECTO_9001793	exposure to anaesthetic		An exposure to local anaesthetic.
http://purl.obolibrary.org/obo/ECTO_9001766	exposure to plant hormone	http://purl.obolibrary.org/obo/ECTO_0000516	exposure to hormone		An exposure to plant hormone.
http://purl.obolibrary.org/obo/ECTO_9001773	exposure to adrenergic agent	http://purl.obolibrary.org/obo/ECTO_9002129	exposure to neurotransmitter agent		An exposure to adrenergic agent.
http://purl.obolibrary.org/obo/ECTO_9001776	exposure to anti-arrhythmia drug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to anti-arrhythmia drug.
http://purl.obolibrary.org/obo/ECTO_9001777	exposure to cardiotonic drug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to cardiotonic drug.
http://purl.obolibrary.org/obo/ECTO_9001787	exposure to sodium channel blocker	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to sodium channel blocker.
http://purl.obolibrary.org/obo/ECTO_9001793	exposure to anaesthetic	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to anaesthetic.
http://purl.obolibrary.org/obo/ECTO_9001794	exposure to general anaesthetic	http://purl.obolibrary.org/obo/ECTO_9001793	exposure to anaesthetic		An exposure to general anaesthetic.
http://purl.obolibrary.org/obo/ECTO_9001796	exposure to intravenous anaesthetic	http://purl.obolibrary.org/obo/ECTO_9001794	exposure to general anaesthetic		An exposure to intravenous anaesthetic.
http://purl.obolibrary.org/obo/ECTO_9001802	exposure to photosensitizing agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to photosensitizing agent.
http://purl.obolibrary.org/obo/ECTO_9001804	exposure to protein synthesis inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to protein synthesis inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001809	exposure to polar solvent	http://purl.obolibrary.org/obo/ECTO_9000107	exposure to solvent		An exposure to polar solvent.
http://purl.obolibrary.org/obo/ECTO_9001810	exposure to non-polar solvent	http://purl.obolibrary.org/obo/ECTO_9000107	exposure to solvent		An exposure to non-polar solvent.
http://purl.obolibrary.org/obo/ECTO_9001811	exposure to protic solvent	http://purl.obolibrary.org/obo/ECTO_0000650	exposure to Bronsted acid		An exposure to protic solvent.
http://purl.obolibrary.org/obo/ECTO_9001813	exposure to amphiprotic solvent	http://purl.obolibrary.org/obo/ECTO_9001811	exposure to protic solvent		An exposure to amphiprotic solvent.
http://purl.obolibrary.org/obo/ECTO_9001814	exposure to antiparkinson drug	http://purl.obolibrary.org/obo/ECTO_9001977	exposure to antidyskinesia agent		An exposure to antiparkinson drug.
http://purl.obolibrary.org/obo/ECTO_9001817	exposure to dopaminergic agent	http://purl.obolibrary.org/obo/ECTO_9002129	exposure to neurotransmitter agent		An exposure to dopaminergic agent.
http://purl.obolibrary.org/obo/ECTO_9001822	exposure to antagonist	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to antagonist.
http://purl.obolibrary.org/obo/ECTO_9001823	exposure to cholinergic antagonist	http://purl.obolibrary.org/obo/ECTO_9002129	exposure to neurotransmitter agent		An exposure to cholinergic antagonist.
http://purl.obolibrary.org/obo/ECTO_9001826	exposure to prostaglandin antagonist	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to prostaglandin antagonist.
http://purl.obolibrary.org/obo/ECTO_9001829	exposure to anti-asthmatic drug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to anti-asthmatic drug.
http://purl.obolibrary.org/obo/ECTO_9001833	exposure to androgen	http://purl.obolibrary.org/obo/ECTO_9002127	exposure to sex hormone		An exposure to androgen.
http://purl.obolibrary.org/obo/ECTO_9001836	exposure to keratolytic drug	http://purl.obolibrary.org/obo/ECTO_9001837	exposure to dermatologic drug		An exposure to keratolytic drug.
http://purl.obolibrary.org/obo/ECTO_9001837	exposure to dermatologic drug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to dermatologic drug.
http://purl.obolibrary.org/obo/ECTO_9001841	exposure to hematologic agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to hematologic agent.
http://purl.obolibrary.org/obo/ECTO_9001842	exposure to anticoagulant	http://purl.obolibrary.org/obo/ECTO_9001841	exposure to hematologic agent		An exposure to anticoagulant.
http://purl.obolibrary.org/obo/ECTO_9001843	exposure to prodrug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to prodrug.
http://purl.obolibrary.org/obo/ECTO_9001844	exposure to GABA modulator	http://purl.obolibrary.org/obo/ECTO_9002129	exposure to neurotransmitter agent		An exposure to GABA modulator.
http://purl.obolibrary.org/obo/ECTO_9001849	exposure to platelet aggregation inhibitor	http://purl.obolibrary.org/obo/ECTO_9001841	exposure to hematologic agent		An exposure to platelet aggregation inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001855	exposure to vasoconstrictor agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to vasoconstrictor agent.
http://purl.obolibrary.org/obo/ECTO_9001858	exposure to cyclooxygenase 2 inhibitor	http://purl.obolibrary.org/obo/ECTO_9001735	exposure to EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor		An exposure to cyclooxygenase 2 inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001859	exposure to cyclooxygenase 1 inhibitor	http://purl.obolibrary.org/obo/ECTO_9001735	exposure to EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor		An exposure to cyclooxygenase 1 inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001862	exposure to EC 1.5.1.3 (dihydrofolate reductase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 1.5.1.3 (dihydrofolate reductase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001864	exposure to abortifacient	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to abortifacient.
http://purl.obolibrary.org/obo/ECTO_9001865	exposure to nutraceutical	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to nutraceutical.
http://purl.obolibrary.org/obo/ECTO_9001869	exposure to immunomodulator	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to immunomodulator.
http://purl.obolibrary.org/obo/ECTO_9001876	exposure to teratogenic agent	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to teratogenic agent.
http://purl.obolibrary.org/obo/ECTO_9001877	exposure to hepatotoxic agent	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to hepatotoxic agent.
http://purl.obolibrary.org/obo/ECTO_9001883	exposure to serotonin uptake inhibitor	http://purl.obolibrary.org/obo/ECTO_9002129	exposure to neurotransmitter agent		An exposure to serotonin uptake inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001884	exposure to dopamine uptake inhibitor	http://purl.obolibrary.org/obo/ECTO_9001817	exposure to dopaminergic agent		An exposure to dopamine uptake inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001891	exposure to epitope	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to epitope.
http://purl.obolibrary.org/obo/ECTO_9001897	exposure to antidiarrhoeal drug	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to antidiarrhoeal drug.
http://purl.obolibrary.org/obo/ECTO_9001900	exposure to hapten	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to hapten.
http://purl.obolibrary.org/obo/ECTO_9001901	exposure to DNA synthesis inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to DNA synthesis inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001905	exposure to nucleophilic reagent	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to nucleophilic reagent.
http://purl.obolibrary.org/obo/ECTO_9001912	exposure to NMDA receptor antagonist	http://purl.obolibrary.org/obo/ECTO_9001822	exposure to antagonist		An exposure to NMDA receptor antagonist.
http://purl.obolibrary.org/obo/ECTO_9001914	exposure to adjuvant	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to adjuvant.
http://purl.obolibrary.org/obo/ECTO_9001915	exposure to tubulin modulator	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to tubulin modulator.
http://purl.obolibrary.org/obo/ECTO_9001921	exposure to microtubule-destabilising agent	http://purl.obolibrary.org/obo/ECTO_9001959	exposure to antimitotic		An exposure to microtubule-destabilising agent.
http://purl.obolibrary.org/obo/ECTO_9001924	exposure to allelochemical	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to allelochemical.
http://purl.obolibrary.org/obo/ECTO_9001926	exposure to fuel additive	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to fuel additive.
http://purl.obolibrary.org/obo/ECTO_9001935	exposure to oxidising agent	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to oxidising agent.
http://purl.obolibrary.org/obo/ECTO_9001936	exposure to EC 3.1.3.1 (alkaline phosphatase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 3.1.3.1 (alkaline phosphatase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001942	exposure to food additive	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to food additive.
http://purl.obolibrary.org/obo/ECTO_9001943	exposure to food acidity regulator	http://purl.obolibrary.org/obo/ECTO_9001942	exposure to food additive		An exposure to food acidity regulator.
http://purl.obolibrary.org/obo/ECTO_9001949	exposure to EC 1.3.1.43 (arogenate dehydrogenase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 1.3.1.43 (arogenate dehydrogenase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001953	exposure to flour treatment agent	http://purl.obolibrary.org/obo/ECTO_9001942	exposure to food additive		An exposure to flour treatment agent.
http://purl.obolibrary.org/obo/ECTO_9001959	exposure to antimitotic	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to antimitotic.
http://purl.obolibrary.org/obo/ECTO_9001965	exposure to EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor	http://purl.obolibrary.org/obo/ECTO_9001754	exposure to lipoxygenase inhibitor		An exposure to EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001966	exposure to EC 3.1.1.3 (triacylglycerol lipase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 3.1.1.3 (triacylglycerol lipase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9001975	exposure to antimicrobial food preservative	http://purl.obolibrary.org/obo/ECTO_0000544	exposure to antimicrobial agent		An exposure to antimicrobial food preservative.
http://purl.obolibrary.org/obo/ECTO_9001977	exposure to antidyskinesia agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to antidyskinesia agent.
http://purl.obolibrary.org/obo/ECTO_9001982	exposure to anti-inflammatory agent	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to anti-inflammatory agent.
http://purl.obolibrary.org/obo/ECTO_9002010	exposure to EC 1.11.1.11 (L-ascorbate peroxidase) inhibitors	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9002011	exposure to plant activator	http://purl.obolibrary.org/obo/ECTO_9001696	exposure to agrochemical		An exposure to plant activator.
http://purl.obolibrary.org/obo/ECTO_9002014	exposure to cyclooxygenase 3 inhibitor	http://purl.obolibrary.org/obo/ECTO_9001735	exposure to EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor		An exposure to cyclooxygenase 3 inhibitor.
http://purl.obolibrary.org/obo/ECTO_9002021	exposure to astringent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to astringent.
http://purl.obolibrary.org/obo/ECTO_9002026	exposure to B vitamin	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to B vitamin.
http://purl.obolibrary.org/obo/ECTO_9002027	exposure to xenobiotic metabolite	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to xenobiotic metabolite.
http://purl.obolibrary.org/obo/ECTO_9002028	exposure to greenhouse gas	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to greenhouse gas.
http://purl.obolibrary.org/obo/ECTO_9002044	exposure to food colouring	http://purl.obolibrary.org/obo/ECTO_9001942	exposure to food additive		An exposure to food colouring.
http://purl.obolibrary.org/obo/ECTO_9002046	exposure to cardioprotective agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to cardioprotective agent.
http://purl.obolibrary.org/obo/ECTO_9002047	exposure to EC 1.1.1.188 (prostaglandin-F synthase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 1.1.1.188 (prostaglandin-F synthase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_9002059	exposure to food packaging gas	http://purl.obolibrary.org/obo/ECTO_9001942	exposure to food additive		An exposure to food packaging gas.
http://purl.obolibrary.org/obo/ECTO_9002062	exposure to food propellant	http://purl.obolibrary.org/obo/ECTO_9001942	exposure to food additive		An exposure to food propellant.
http://purl.obolibrary.org/obo/ECTO_9002063	exposure to food component	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to food component.
http://purl.obolibrary.org/obo/ECTO_9002066	exposure to refrigerant	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to refrigerant.
http://purl.obolibrary.org/obo/ECTO_9002070	exposure to fundamental metabolite	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to fundamental metabolite.
http://purl.obolibrary.org/obo/ECTO_9002079	exposure to human blood serum metabolite	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to human blood serum metabolite.
http://purl.obolibrary.org/obo/ECTO_9002080	exposure to antifungal drug	http://purl.obolibrary.org/obo/ECTO_9001749	exposure to antifungal agent		An exposure to antifungal drug.
http://purl.obolibrary.org/obo/ECTO_9002082	exposure to drug allergen	http://purl.obolibrary.org/obo/ECTO_0000726	exposure to allergen		An exposure to drug allergen.
http://purl.obolibrary.org/obo/ECTO_9002127	exposure to sex hormone	http://purl.obolibrary.org/obo/ECTO_0000516	exposure to hormone		An exposure to sex hormone.
http://purl.obolibrary.org/obo/ECTO_9002129	exposure to neurotransmitter agent	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to neurotransmitter agent.
http://purl.obolibrary.org/obo/ECTO_9002130	exposure to food preservative	http://purl.obolibrary.org/obo/ECTO_9001942	exposure to food additive		An exposure to food preservative.
http://purl.obolibrary.org/obo/ECTO_9002131	exposure to flame retardant	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to flame retardant.
http://purl.obolibrary.org/obo/ECTO_9002133	exposure to protein	http://purl.obolibrary.org/obo/ECTO_9000190	exposure to organonitrogen compound		An exposure to protein.
http://purl.obolibrary.org/obo/ECTO_9002136	exposure to urea	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to urea.
http://purl.obolibrary.org/obo/ECTO_9002146	exposure to acids	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to acid.
http://purl.obolibrary.org/obo/ECTO_9002148	exposure to polycyclic hydrocarbon	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to polycyclic hydrocarbon.
http://purl.obolibrary.org/obo/HP_0033429	Neuroinflammation	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.
http://purl.obolibrary.org/obo/MONDO_0100249	46,XX testicular disorder of sex development	http://purl.obolibrary.org/obo/MONDO_0017576	46,XX disorder of sex development		46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.
http://purl.obolibrary.org/obo/MONDO_0100253	Roberts-SC phocomelia syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
http://purl.obolibrary.org/obo/MONDO_0100284	X-linked intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.
http://purl.obolibrary.org/obo/HP_0033836	Abnormal intrarenal artery morphology	http://purl.obolibrary.org/obo/HP_0033835	Abnormal renal vascular morphology		An anomalous structure of an artery located in the kidney.
http://purl.obolibrary.org/obo/CHEBI_176838	vitamin B2	http://purl.obolibrary.org/obo/CHEBI_75769	B vitamin		Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B<small><sub>2</sub></small> deficiency. Symptoms associated with vitamin B<small><sub>2</sub></small> deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms).
http://purl.obolibrary.org/obo/CHEBI_176841	vitamin B7	http://purl.obolibrary.org/obo/CHEBI_75769	B vitamin		Any member of a group of vitamers that belong to the chemical structural class called biotins that exhibit biological activity against vitamin B<small><sub>7</sub></small> deficiency. Vitamin B<small><sub>7</sub></small> deficiency is very rare in individuals who take a normal balanced diet. Foods rich in biotin are egg yolk, liver, cereals, vegetables (spinach, mushrooms) and rice. Symptoms associated with vitamin B<small><sub>7</sub></small> deficiency include thinning hair, scaly skin rashes around eyes, nose and mouth, and brittle nails. The vitamers include biotin and its ionized and salt forms.
http://purl.obolibrary.org/obo/MONDO_0100447	ATF6-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by biallelic variants in the AFT6 gene.
http://purl.obolibrary.org/obo/MONDO_0100448	RAB28-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by biallelic variants in the RAB28 gene.
http://purl.obolibrary.org/obo/MONDO_0100458	MECOM-associated syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.
http://purl.obolibrary.org/obo/MONDO_0100441	GUCY2D-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0100454	GUCY2D retinopathy		A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.
http://purl.obolibrary.org/obo/MONDO_0100452	RPE65-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.
http://purl.obolibrary.org/obo/MAXO_0009095	zinc therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Treatment with zinc (typically a zinc salt, like zinc acetate or zinc sulfate) with an expected therapeutic benefit.
http://purl.obolibrary.org/obo/MONDO_0100098	dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100184	GTP cyclohydrolase I deficiency		A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disability, and only minimal, if any, hyperphenylalaninemia.
http://purl.obolibrary.org/obo/MONDO_0100123	toxic bronchiolitis	http://purl.obolibrary.org/obo/MONDO_0002465	bronchiolitis		Bronchiolitis as a response to a toxic exposure.
http://purl.obolibrary.org/obo/MONDO_0100127	toxic bronchiolitis obliterans	http://purl.obolibrary.org/obo/MONDO_0100123	toxic bronchiolitis		Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles.
http://purl.obolibrary.org/obo/MONDO_0100149	PNPLA6-related spastic paraplegia with or without ataxia	http://purl.obolibrary.org/obo/MONDO_0012787	hereditary spastic paraplegia 39		An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.
http://purl.obolibrary.org/obo/MONDO_0100155	retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.
http://purl.obolibrary.org/obo/MONDO_0100166	PPP2R1A-related intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene.
http://purl.obolibrary.org/obo/MONDO_0100173	leukemia, acute myeloid, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An inherited susceptibility or predisposition to developing leukemia, acute myeloid.
http://purl.obolibrary.org/obo/MONDO_0100177	allergic rhinitis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing allergic rhinitis.
http://purl.obolibrary.org/obo/MONDO_0100180	diabetes mellitus, ketosis-prone	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis.
http://purl.obolibrary.org/obo/MONDO_0100181	dermatitis, atopic, 1	http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to		An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606.
http://purl.obolibrary.org/obo/MONDO_0100183	radioulnar synostosis, nonsyndromic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.
http://purl.obolibrary.org/obo/MONDO_0100187	opioid-induced constipation	http://purl.obolibrary.org/obo/MONDO_0002203	constipation disorder		A constipation disorder caused by use of opioids. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy.
http://purl.obolibrary.org/obo/MONDO_0100200	microcephaly with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0001149	microcephaly		Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.
http://purl.obolibrary.org/obo/MONDO_0100201	lumbar disk disease	http://purl.obolibrary.org/obo/MONDO_0000812	vertebral column disorder		A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.
http://purl.obolibrary.org/obo/MONDO_0100501	body-stalk anomaly	http://purl.obolibrary.org/obo/MONDO_0100298	abdominal wall malformation		A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs.
http://purl.obolibrary.org/obo/MONDO_0700045	protothecosis	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.
http://purl.obolibrary.org/obo/MONDO_0700115	proliferative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.
http://purl.obolibrary.org/obo/MONDO_0700117	SLC6A3-related dopamine transporter deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.
http://purl.obolibrary.org/obo/MONDO_0700200	atypical dopamine transporter deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0700117	SLC6A3-related dopamine transporter deficiency syndrome		A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.
http://purl.obolibrary.org/obo/MONDO_0800306	myoclonic epilepsy of Lafora 2	http://purl.obolibrary.org/obo/MONDO_0009697	Lafora disease		Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.
http://purl.obolibrary.org/obo/MONDO_0800368	cardiomyopathy, dilated, 1MM	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.
http://purl.obolibrary.org/obo/MONDO_0800384	cesium poisoning	http://purl.obolibrary.org/obo/MONDO_0023305	heavy metal poisoning		A heavy metal poisoning that is caused by exposure to cesium.
http://purl.obolibrary.org/obo/MONDO_0800387	sulfur mustard poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death.
http://purl.obolibrary.org/obo/MONDO_0800389	monochloroacetic acid poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to monochloroacetic acid.
http://purl.obolibrary.org/obo/MONDO_0800399	RP1-related recessive retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An autosomal dominant retinopathy caused by variants in the RP1 gene.
http://purl.obolibrary.org/obo/MONDO_0800400	RP1-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the RP1 gene.
http://purl.obolibrary.org/obo/MONDO_0850097	autoimmune limbic encephalitis	http://purl.obolibrary.org/obo/MONDO_0020640	autoimmune encephalitis		A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.
http://purl.obolibrary.org/obo/MONDO_0700205	ehrlichiosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700201	tick-borne infectious disease, non-human animal		Ehrlichiosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0100167	pulmonary disease, chronic obstructive, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing COPD.
http://purl.obolibrary.org/obo/MONDO_0100511	sudden cardiac arrest	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		The sudden loss of all heart activity due to an irregular heart rhythm.
http://purl.obolibrary.org/obo/MONDO_0700056	fungal infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Fungal infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700058	Morton neuroma	http://purl.obolibrary.org/obo/MONDO_0002173	neuroma		Compressive neuropathy of the forefoot interdigital nerve chiefly due to compression and irritation at the plantar aspect of the transverse intermetatarsal ligament. It is not a true neuroma as the condition is degenerative rather than neoplastic. The most common location for Morton neuroma is between the 2nd and 3rd metatarsals.
http://purl.obolibrary.org/obo/MONDO_0700207	constitutional delay of growth and puberty	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion.
http://purl.obolibrary.org/obo/MONDO_0700215	NTRK fusion positive cancer	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.
http://purl.obolibrary.org/obo/MONDO_0700216	RET fusion positive cancer	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors.
http://purl.obolibrary.org/obo/MONDO_0700217	neonatal sepsis	http://purl.obolibrary.org/obo/MONDO_0005229	bacterial infectious disease with sepsis		Bacterial infection in the bloodstream of newborn infants younger than 28 days old.
http://purl.obolibrary.org/obo/MONDO_0700218	group B streptococcal infection	http://purl.obolibrary.org/obo/MONDO_0021680	streptococcal infection		A disease caused by infection with Group B Streptococcus.
http://purl.obolibrary.org/obo/MONDO_0700219	neoplastic meningitis	http://purl.obolibrary.org/obo/MONDO_0024880	metastatic malignant neoplasm		Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.
http://purl.obolibrary.org/obo/MONDO_0850001	congenital neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.
http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Digestive system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Endocrine system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Hematologic disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Inflammatory disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011329	keratoconjunctivitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013738	conjunctivitis, non-human animal		Keratoconjunctivitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011334	mouth mucosa disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011333	mouth disorder, non-human animal		Mouth mucosa disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Musculoskeletal system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Nervous system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0100513	TRAF3 haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.
http://purl.obolibrary.org/obo/MONDO_0100520	NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.
http://purl.obolibrary.org/obo/MONDO_1011300	acute disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Acute disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011301	auditory system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Auditory system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Branchial arch disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011303	mammary gland disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Mammary gland disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011304	mammary fibrocystic disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011303	mammary gland disorder, non-human animal		Mammary fibrocystic disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770014	disease by etiologic mechanism, non-human animal		Cancer or benign tumor that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Cardiovascular disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770015	disease of genetic or genomic mechanism, non-human animal		Chromosomal disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011308	congenital nervous system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Congenital nervous system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011309	connective tissue disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Connective tissue disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011310	developmental defect during embryogenesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Developmental defect during embryogenesis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011312	disease related to transplantation, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770016	disease of primarily extrinsic mechanism, non-human animal		Disease related to transplantation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Disorder of development or morphogenesis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011314	disorder of glycosylation, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Disorder of glycosylation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011315	disorder of orbital region, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Disorder of orbital region that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Disorder of visual system that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011318	hearing disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011343	perceptual disorders, non-human animal		Hearing disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770015	disease of genetic or genomic mechanism, non-human animal		Hereditary disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011322	iatrogenic disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770016	disease of primarily extrinsic mechanism, non-human animal		Iatrogenic disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011323	idiopathic disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770014	disease by etiologic mechanism, non-human animal		Idiopathic disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011325	immunodeficiency-related disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Immunodeficiency-Related disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Integumentary system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011330	lymphoid system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Lymphoid system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Metabolic disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011332	mitochondrial disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Mitochondrial disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011333	mouth disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Mouth disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011337	neurocristopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Neurocristopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011338	nutritional disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770014	disease by etiologic mechanism, non-human animal		Nutritional disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011339	obstetric disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Obstetric disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011340	occupational disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770016	disease of primarily extrinsic mechanism, non-human animal		Occupational disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011341	omphalitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Omphalitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011342	otorhinolaryngologic disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Otorhinolaryngologic disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011343	perceptual disorders, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Perceptual disorders that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011344	perinatal disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Perinatal disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011345	poisoning, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770016	disease of primarily extrinsic mechanism, non-human animal		Poisoning that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011346	post-bacterial disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011348	post-infectious disorder, non-human animal		Post-Bacterial disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011347	post-COVID-19 disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011349	post-viral disorder, non-human animal		Post-Covid-19 disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011348	post-infectious disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770016	disease of primarily extrinsic mechanism, non-human animal		Post-Infectious disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011349	post-viral disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011348	post-infectious disorder, non-human animal		Post-Viral disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011350	premature aging syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Premature aging syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011351	psychiatric disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Psychiatric disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011352	radiation-induced disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770016	disease of primarily extrinsic mechanism, non-human animal		Radiation-induced disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011353	radiculitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Radiculitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Reproductive system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011356	sensory ganglionopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Sensory ganglionopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011357	serositis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Serositis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011358	skin appendage disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Skin appendage disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011359	subcutaneous tissue disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Subcutaneous tissue disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Syndromic disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011361	thymus gland disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Thymus gland disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011363	ulcer disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Ulcer disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011364	upper digestive tract disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Upper digestive tract disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Urinary system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011343	perceptual disorders, non-human animal		Vision disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/HP_0034916	Abnormal anus physiology	http://purl.obolibrary.org/obo/HP_0004378	Abnormality of the anus		A functional anomaly of the anus.
http://purl.obolibrary.org/obo/MONDO_0100524	ASAH1-related sphingolipidosis	http://purl.obolibrary.org/obo/MONDO_0019255	sphingolipidosis		A spectrum of disorders caused by variation(s) in the ASAH1 genel this spectrum includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.
http://purl.obolibrary.org/obo/MONDO_0100525	TCF7L2-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.
http://purl.obolibrary.org/obo/MONDO_0100527	dysplastic cortical hyperostosis, Kozlowski-Tsuruta type	http://purl.obolibrary.org/obo/MONDO_0016357	dysplastic cortical hyperostosis		An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.
http://purl.obolibrary.org/obo/MONDO_0100528	Hao-Fountain syndrome due to 16p13.2 microdeletion	http://purl.obolibrary.org/obo/MONDO_0014805	Hao-Fountain syndrome		A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
http://purl.obolibrary.org/obo/MONDO_0957248	developmental and epileptic encephalopathy, 31B	http://purl.obolibrary.org/obo/MONDO_0700339	DNM1-encephalopathy and neurodevelopmental disorder		Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene.
http://purl.obolibrary.org/obo/MONDO_0957267	neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by mutation in ESAM gene. It is characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage.
http://purl.obolibrary.org/obo/MONDO_0957382	multiple mitochondrial dysfunctions syndrome 7	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		Any multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the GCSH gene. It is characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems.
http://purl.obolibrary.org/obo/MONDO_0957397	intellectual developmental disorder, autosomal dominant 72	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0957408	type 1 interferonopathy of childhood	http://purl.obolibrary.org/obo/MONDO_0700264	type 1 interferonopathy		A type 1 interferonopathy that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0957421	borna virus encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		A human disease caused by infection with Borna disease virus.
http://purl.obolibrary.org/obo/MONDO_0957423	immunotherapy induced hypophysitis	http://purl.obolibrary.org/obo/MONDO_0021156	hypophysitis		A rare acquired pituitary hormone deficieny characterized by inflammation of the pituitary gland secondary to immunotherapy for cancers treatments (such as monoclonal antibodies against cytotoxic T lymphocytes antigen, programmed cell death protein-1, and programmed cell death ligand molecules). Major clinical features include headache, fatigue, adrenal insufficiency and hypothyroidism. Patients may also have nausea and vomiting associated to the headache as well as dizziness and hot flashes. Enlargement of the pituitary gland is present in the brain imaging.
http://purl.obolibrary.org/obo/MONDO_0957431	endogenous Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0018912	Cushing syndrome		Any Cushing syndrome caused by body's prolonged overproduction of cortisol that can be dependent on or independent of adrenocorticotropic hormone (ACTH).
http://purl.obolibrary.org/obo/MONDO_0957451	non-terminal myelocystocele	http://purl.obolibrary.org/obo/MONDO_0017077	myelocystocele		A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.
http://purl.obolibrary.org/obo/MONDO_0957453	true myelomeningocele	http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele		A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).
http://purl.obolibrary.org/obo/MONDO_0957454	hemi-myelomeningocele	http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele		A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.
http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Epilepsy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010002	myoclonus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013466	movement disorder, non-human animal		Myoclonus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010003	narcolepsy, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Narcolepsy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010004	paroxysmal dyskinesia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013466	movement disorder, non-human animal		Paroxysmal dyskinesia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010005	autism spectrum disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Autism spectrum disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010006	Phelan-McDermid syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Phelan-McDermid syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010007	subvalvular aortic stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013014	aortic valve stenosis, non-human animal		Subvalvular aortic stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010008	atherosclerosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Atherosclerosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010009	atrial septal defect, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Atrial septal defect that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Cardiomyopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010011	dilated cardiomyopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Dilated cardiomyopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010012	conotruncal heart malformations, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Conotruncal heart malformations that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010013	cor triatriatum dexter, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Cor triatriatum dexter that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010014	essential hypertension, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013079	hypertensive disorder, non-human animal		Essential hypertension that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010015	hypertrophic cardiomyopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Hypertrophic cardiomyopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010016	mitral valve stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013099	mitral valve disorder, non-human animal		Mitral valve stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010017	patent ductus arteriosus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Patent ductus arteriosus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010018	persistent truncus arteriosus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Persistent truncus arteriosus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010019	arrhythmogenic right ventricular cardiomyopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Arrhythmogenic right ventricular cardiomyopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010020	supravalvular aortic stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013014	aortic valve stenosis, non-human animal		Supravalvular aortic stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010021	tetralogy of fallot, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Tetralogy of fallot that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Ventricular septal defect that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010023	patent ductus venosus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011409	portosystemic shunt, non-human animal		Patent ductus venosus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010024	atrial fibrillation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Atrial fibrillation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010025	Wolff-Parkinson-White syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Wolff-Parkinson-White syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010026	Budd-Chiari syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Budd-Chiari syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010027	endocardial fibroelastosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Endocardial fibroelastosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010028	cerebral amyloid angiopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013026	cerebrovascular disorder, non-human animal		Cerebral amyloid angiopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010031	triploidy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		Triploidy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010032	Jacobsen syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010080	thrombocytopenia, non-human animal		Jacobsen syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010033	holoprosencephaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Holoprosencephaly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010034	cleft lip with or without cleft palate, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011310	developmental defect during embryogenesis, non-human animal		Cleft lip with or without cleft palate that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010035	mandibulofacial dysostosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Mandibulofacial dysostosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010036	frontonasal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Frontonasal dysplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Cleft palate that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010038	gingival hypertrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013185	periodontal disorder, non-human animal		Gingival hypertrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010039	megacolon, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Megacolon that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010040	pyloric stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Pyloric stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010041	Meckel diverticulum, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Meckel diverticulum that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010042	protein-losing enteropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Protein-losing enteropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010043	cystic fibrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Cystic fibrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010044	microvillus inclusion disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Microvillus inclusion disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010045	diprosopus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Diprosopus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010046	patent urachus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		Patent urachus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010047	spina bifida, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013400	spinal cord disorder, non-human animal		Spina bifida that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010048	spina bifida occulta, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010047	spina bifida, non-human animal		Spina bifida occulta that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010049	acromegaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Acromegaly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010050	congenital adrenal hyperplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013005	primary adrenal insufficiency, non-human animal		Congenital adrenal hyperplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010051	diabetes insipidus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Diabetes insipidus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Diabetes mellitus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010053	familial goiter, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Familial goiter that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010054	hyperparathyroidism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		Hyperparathyroidism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010055	hyperthyroidism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		Hyperthyroidism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010056	hypoparathyroidism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		Hypoparathyroidism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010057	congenital hypothyroidism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013584	hypothyroidism, non-human animal		Congenital hypothyroidism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010058	exocrine pancreatic insufficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		Exocrine pancreatic insufficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010059	thyroiditis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Thyroiditis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010060	pheochromocytoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Pheochromocytoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010061	hyperaldosteronism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		Hyperaldosteronism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010062	congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010050	congenital adrenal hyperplasia, non-human animal		Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010063	congenital adrenal hypoplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal		Congenital adrenal hypoplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010066	microcephaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Microcephaly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010067	omphalocele, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011310	developmental defect during embryogenesis, non-human animal		Omphalocele that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010068	situs inversus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Situs inversus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010069	autoimmune thrombocytopenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Autoimmune thrombocytopenia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010070	Chediak-Higashi syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Chediak-Higashi syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010071	factor VII deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Factor VII deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010072	factor X deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Factor X deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010073	factor XI deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Factor XI deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010074	factor XII deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Factor XII deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010075	hemophilia B, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Hemophilia B that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010076	hypereosinophilic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Hypereosinophilic syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010077	Pelger-Huet anomaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Pelger-Huet anomaly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010078	polycythemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013016	bone marrow disorder, non-human animal		Polycythemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010079	prekallikrein deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Prekallikrein deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010080	thrombocytopenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Thrombocytopenia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010081	autoimmune thrombocytopenic purpura, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010069	autoimmune thrombocytopenia, non-human animal		Autoimmune thrombocytopenic purpura that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010082	Evans syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011406	autoimmune hemolytic anemia, non-human animal		Evans syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010083	Scott Syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Scott Syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010085	factor XIII deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Factor XIII deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010086	myeloperoxidase deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Myeloperoxidase deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010090	anotia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011342	otorhinolaryngologic disease, non-human animal		Anotia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010091	microtia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011342	otorhinolaryngologic disease, non-human animal		Microtia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal		AA amyloidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010093	AL amyloidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal		AL amyloidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010094	analphalipoproteinaemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Analphalipoproteinaemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010095	citrullinemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Citrullinemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010099	pyruvate kinase deficiency of erythrocyte, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Pyruvate kinase deficiency of erythrocyte that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010101	galactosemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Galactosemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010102	porphyria cutanea tarda, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Porphyria cutanea tarda that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010103	eclampsia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013079	hypertensive disorder, non-human animal		Eclampsia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010104	trimethylaminuria (fishy taint), non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Trimethylaminuria (fishy taint) that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010105	pyruvate dehydrogenase deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Pyruvate dehydrogenase deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010106	multiple acyl-coa dehydrogenase deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010107	acute intermittent porphyria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Acute intermittent porphyria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010109	dihydropyrimidinase deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Dihydropyrimidinase deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010110	hyperphosphatemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Hyperphosphatemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010113	glucocorticoid resistance, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Glucocorticoid resistance that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010114	phenylketonuria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Phenylketonuria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010115	c8 deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		C8 deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010118	systemic lupus erythematosus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Systemic lupus erythematosus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010119	scleroderma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Scleroderma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010121	periodic fever syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Periodic fever syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010123	common variable immunodeficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Common variable immunodeficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010124	autoimmune lymphoproliferative syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Autoimmune lymphoproliferative syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010126	atopic dermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Atopic dermatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010127	dermatomyositis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Dermatomyositis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010129	epidermolysis bullosa, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Epidermolysis bullosa that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010130	hypertrichosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Hypertrichosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010133	acrodermatitis enteropathica, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Acrodermatitis enteropathica that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010134	pityriasis rosea, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Pityriasis rosea that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010135	protoporphyria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Protoporphyria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010136	vitiligo, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Vitiligo that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010137	bullous pemphigoid, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Bullous pemphigoid that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010138	pemphigus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Pemphigus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010139	atrichia with papular lesions, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011358	skin appendage disorder, non-human animal		Atrichia with papular lesions that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010140	alopecia areata, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011358	skin appendage disorder, non-human animal		Alopecia areata that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010141	ectodermal dysplasia/skin fragility syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011428	epidermolysis bullosa simplex, non-human animal		Ectodermal dysplasia/skin fragility syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010142	pyoderma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Pyoderma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010143	incontinentia pigmenti, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Incontinentia pigmenti that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010147	stiff skin syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Stiff skin syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010149	tricho-dento-osseous-like syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Tricho-dento-osseous-like syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010153	Darier disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Darier disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010155	cutis laxa, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Cutis laxa that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010156	brachydactyly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Brachydactyly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010157	hyperostosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Hyperostosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Polydactyly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010159	split hand, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Split hand that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010160	syndactyly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Syndactyly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010161	tibial hemimelia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Tibial hemimelia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010162	radial hemimelia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Radial hemimelia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010163	tetradysmelia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Tetradysmelia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010164	Wilson disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Wilson disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010166	galactosialidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Galactosialidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010167	gangliosidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Gangliosidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010170	Krabbe disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Krabbe disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Lysosomal storage disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010172	alpha-mannosidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Alpha-mannosidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010191	deficiency of uridine monophosphate synthase, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Deficiency of uridine monophosphate synthase that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010192	central core myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770017	disease by molecular mechanism, non-human animal		Central core myopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010196	congenital myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Congenital myopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010197	myositis ossificans, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013746	myositis disease, non-human animal		Myositis ossificans that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010198	myotonic dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Myotonic dystrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010199	muscular dystrophy, Duchenne type, non-human animal	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Muscular dystrophy, Duchenne type that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010201	congenital pseudomyotonia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012972	hereditary neurological disease, non-human animal		Congenital pseudomyotonia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010202	myotubular myopathy 1, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012963	centronuclear myopathy, non-human animal		Myotubular myopathy 1 that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010203	polymyositis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013746	myositis disease, non-human animal		Polymyositis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010208	myofibrillar myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010196	congenital myopathy, non-human animal		Myofibrillar myopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010209	lymphosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Lymphosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010210	malignant histiocytosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011436	histiocytosis, non-human animal		Malignant histiocytosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010211	mycosis fungoides, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013150	skin neoplasm, non-human animal		Mycosis fungoides that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010212	osteosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Osteosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010213	chronic monocytic leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700100	leukemia, non-human animal		Chronic monocytic leukemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010214	non-hodgkin lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700102	lymphoma, non-human animal		Non-hodgkin lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010215	familial adenomatous polyposis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Familial adenomatous polyposis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010216	embryonal rhabdomyosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Embryonal rhabdomyosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010217	schwannomatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013635	schwannoma, non-human animal		Schwannomatosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010220	ameloblastoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013389	tooth disorder, non-human animal		Ameloblastoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010222	chronic myelomonocytic leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Chronic myelomonocytic leukemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010223	prostate cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Prostate cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010224	benign prostatic hyperplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Benign prostatic hyperplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010225	cystic hygroma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013591	lymphangioma, non-human animal		Cystic hygroma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010226	lymphangiosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Lymphangiosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010227	cauda equina syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Cauda equina syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010228	Dandy-Walker syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013387	cerebellar disorder, non-human animal		Dandy-Walker syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010229	dysautonomia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal		Dysautonomia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010230	hepatic encephalopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Hepatic encephalopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010231	Huntington disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Huntington disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010232	hydranencephaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Hydranencephaly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Hydrocephalus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010234	olivopontocerebellar atrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Olivopontocerebellar atrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010235	spinal muscular atrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Spinal muscular atrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010236	syringomyelia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013400	spinal cord disorder, non-human animal		Syringomyelia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010237	polymicrogyria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011308	congenital nervous system disorder, non-human animal		Polymicrogyria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010238	leukodystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Leukodystrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012983	neuromuscular disease, non-human animal		Peripheral neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010240	Horner syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal		Horner syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010241	giant axonal neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Giant axonal neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010242	Alexander disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010238	leukodystrophy, non-human animal		Alexander disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010243	cerebellar degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Cerebellar degeneration that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010244	L-2-hydroxyglutaricacidemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		L-2-hydroxyglutaricacidemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010245	hyperekplexia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013466	movement disorder, non-human animal		Hyperekplexia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010247	lissencephaly and cerebellar hypoplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013592	lymphedema, non-human animal		Lissencephaly and cerebellar hypoplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010249	ataxia telangiectasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Ataxia telangiectasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010252	succinic semialdehyde dehydrogenase deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Succinic semialdehyde dehydrogenase deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010258	glomerulonephritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010259	nephritis, non-human animal		Glomerulonephritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010259	nephritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Nephritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010260	nephrolithiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Nephrolithiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010261	nephrotic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Nephrotic syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013321	cystic kidney disease, non-human animal		Polycystic kidney disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010264	renal hypoplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Renal hypoplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010265	renal hypoplasia, unilateral, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010264	renal hypoplasia, non-human animal		Renal hypoplasia, unilateral that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010266	renal hypoplasia, bilateral, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010264	renal hypoplasia, non-human animal		Renal hypoplasia, bilateral that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		Urolithiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010268	renal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Renal dysplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010269	hypospadias, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Hypospadias that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010270	alkaptonuria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Alkaptonuria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010272	renal agenesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Renal agenesis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Cryptorchidism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010276	hypogonadism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Hypogonadism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010277	orchitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013257	testicular disorder, non-human animal		Orchitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010278	persistent Mullerian duct syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Persistent Mullerian duct syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010279	hymen, imperforate, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Hymen, imperforate that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010280	priapism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013396	penile disorder, non-human animal		Priapism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010281	testicular regression syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013417	gonadal dysgenesis, non-human animal		Testicular regression syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010282	azoospermia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal		Azoospermia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010284	allergic rhinitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013749	rhinitis, non-human animal		Allergic rhinitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010285	atrophic rhinitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013749	rhinitis, non-human animal		Atrophic rhinitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010286	pneumothorax, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Pneumothorax that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010287	pulmonary hypertension, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013079	hypertensive disorder, non-human animal		Pulmonary hypertension that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010289	choanal atresia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013394	nasal disorder, non-human animal		Choanal atresia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010290	pulmonary agenesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Pulmonary agenesis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010291	achondroplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Achondroplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010292	ankylosing spondylitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013617	spondylitis, non-human animal		Ankylosing spondylitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010293	anodontia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013389	tooth disorder, non-human animal		Anodontia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010294	rheumatoid arthritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013736	arthritic joint disease, non-human animal		Rheumatoid arthritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010295	osteoporosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011454	osteogenesis imperfecta, non-human animal		Osteoporosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010296	Marfan syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Marfan syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013736	arthritic joint disease, non-human animal		Osteoarthritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010298	osteochondritis dissecans, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Osteochondritis dissecans that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Osteochondrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010300	osteopetrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Osteopetrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010302	scoliosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Scoliosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010303	spinal stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Spinal stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010304	synovial chondromatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Synovial chondromatosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010305	craniosynostosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013618	synostosis, non-human animal		Craniosynostosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Osteochondrodysplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010310	schmid metaphyseal chondrodysplasia dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Schmid metaphyseal chondrodysplasia dwarfism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010312	osteopetrosis with gingival hamartomas, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010300	osteopetrosis, non-human animal		Osteopetrosis with gingival hamartomas that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010313	spondylocostal dysostosis, autosomal recessive, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012966	congenital disorder of glycosylation, non-human animal		Spondylocostal dysostosis, autosomal recessive that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010314	Van den Ende-Gupta syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011455	arthrogryposis multiplex congenita, non-human animal		Van den Ende-Gupta syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010315	periodontitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013185	periodontal disorder, non-human animal		Periodontitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010316	hypophosphatasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Hypophosphatasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010318	GAPO syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		GAPO syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Coloboma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010320	corneal dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013388	corneal disorder, non-human animal		Corneal dystrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010321	retinal detachment, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Retinal detachment that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010322	ectropion, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Ectropion that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Entropion that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Microphthalmia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010325	congenital nystagmus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013038	cranial nerve neuropathy, non-human animal		Congenital nystagmus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Retinal degeneration that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010327	strabismus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013038	cranial nerve neuropathy, non-human animal		Strabismus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010328	retinoschisis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Retinoschisis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010329	Leber congenital amaurosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Leber congenital amaurosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010330	keratitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013388	corneal disorder, non-human animal		Keratitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010334	retinitis pigmentosa, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Retinitis pigmentosa that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010337	myopia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Myopia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010343	diabetic cataract, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Diabetic cataract that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010344	Peters anomaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013470	anterior segment dysgenesis, non-human animal		Peters anomaly that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010350	macular corneal dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013036	stromal corneal dystrophy, non-human animal		Macular corneal dystrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010351	age-related macular degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Age-related macular degeneration that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010352	microphthalmia, isolated, with coloboma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia, isolated, with coloboma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010358	Leber hereditary optic neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Leber hereditary optic neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010359	night blindness, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013737	blindness (disorder), non-human animal		Night blindness that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010360	dacryocystitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Dacryocystitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010361	hyperphagia leading to hepatic steatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013600	obesity disorder, non-human animal		Hyperphagia leading to hepatic steatosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/HP_0430046	Small joint hypermobilty	http://purl.obolibrary.org/obo/HP_0001382	Joint hypermobility		The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, 
second to fifth metatarsophalangeal joints, and wrists.
http://purl.obolibrary.org/obo/MONDO_0700257	RNASEH2B-related type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
http://purl.obolibrary.org/obo/MONDO_0700258	RNASEH2C-related type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
http://purl.obolibrary.org/obo/MONDO_0700259	RNASEH2A-related type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
http://purl.obolibrary.org/obo/MONDO_0700260	SAMHD1-related type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.
http://purl.obolibrary.org/obo/MONDO_0100576	hereditary generalized epilepsy	http://purl.obolibrary.org/obo/MONDO_0100575	genetic generalized epilepsy		An instance of generalized epilepsy that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0100573	combined generalized and focal epilepsy	http://purl.obolibrary.org/obo/MONDO_0100574	generalized epilepsy		Any epilepsy where patients have both generalized and focal seizure types, with interictal and/or ictal EEG findings that accompany both seizure types. Patients with Dravet syndrome and Lennox-Gastaut syndrome may have combined focal and generalized epilepsy.
http://purl.obolibrary.org/obo/MONDO_0700336	peritoneal carcinomatosis	http://purl.obolibrary.org/obo/MONDO_0002087	peritoneum cancer		Cancer in which a carcinoma, usually of the digestive tract or female reproductive organs, has spread extensively throughout the peritoneum and causes tumors to grow on the peritoneum. Peritoneal carcinomatosis can happen in many types of cancer, but it is most common in people with cancers of the ovary, colon, rectum, stomach, pancreas, or appendix.
http://purl.obolibrary.org/obo/MONDO_0100595	furunculosis	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		A skin condition that is characterized by recurring furuncles, lesions primarily caused by Staphylococcus aureus infection of the hair follicles and surrounding skin. Furunculosis occurs more frequently in persons with immune systems disorders than in the general population.
http://purl.obolibrary.org/obo/FOODON_00005501	mammal material	http://purl.obolibrary.org/obo/FOODON_00005502	vertebrate material		Material which derives from one or more mammals.
http://purl.obolibrary.org/obo/FOODON_00005502	vertebrate material	http://purl.obolibrary.org/obo/FOODON_03420164	animal material		Material which derives from one or more vertebrate animals.
http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology	http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology		Abnormality of the male external sex organ.
http://purl.obolibrary.org/obo/HP_0000040	Long penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		Penile length more than 2 SD above the mean for age.
http://purl.obolibrary.org/obo/HP_0000045	Abnormal scrotum morphology	http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology		Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.
http://purl.obolibrary.org/obo/HP_0000124	Renal tubular dysfunction	http://purl.obolibrary.org/obo/HP_0012211	Abnormal renal physiology		Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
http://purl.obolibrary.org/obo/HP_0000151	Aplasia of the uterus	http://purl.obolibrary.org/obo/HP_0008684	Aplasia/hypoplasia of the uterus		A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.
http://purl.obolibrary.org/obo/HP_0000360	Tinnitus	http://purl.obolibrary.org/obo/HP_0000364	Hearing abnormality		Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
http://purl.obolibrary.org/obo/HP_0000630	Abnormal retinal arterial/arteriolar morphology	http://purl.obolibrary.org/obo/HP_3000036	Abnormal head blood vessel morphology		Any deviation from the normal structure of the retinal artery or arterioles.
http://purl.obolibrary.org/obo/HP_0000708	Atypical behavior	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
http://purl.obolibrary.org/obo/HP_0000711	Restlessness	http://purl.obolibrary.org/obo/HP_5200263	Abnormally increased volition		A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.
http://purl.obolibrary.org/obo/HP_0000718	Aggressive behavior	http://purl.obolibrary.org/obo/HP_0000734	Disinhibition		Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
http://purl.obolibrary.org/obo/HP_0000719	Inappropriate behavior	http://purl.obolibrary.org/obo/HP_5200029	Social disinhibition		An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.
http://purl.obolibrary.org/obo/HP_0000722	Compulsive behaviors	http://purl.obolibrary.org/obo/HP_5200241	Recurrent maladaptive behavior		Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.
http://purl.obolibrary.org/obo/HP_0000734	Disinhibition	http://purl.obolibrary.org/obo/HP_5200263	Abnormally increased volition		Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.
http://purl.obolibrary.org/obo/HP_0000745	Abnormal diminished volition	http://purl.obolibrary.org/obo/HP_0025780	Abnormal volitional state		A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.
http://purl.obolibrary.org/obo/HP_0000752	Hyperactivity	http://purl.obolibrary.org/obo/HP_0000734	Disinhibition		Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
http://purl.obolibrary.org/obo/HP_0000811	Abnormal external genitalia morphology	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		A structural anomaly of the external genitalia.
http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology	http://purl.obolibrary.org/obo/HP_0004329	Abnormal posterior eye segment morphology		Any structural abnormality of the fundus of the eye.
http://purl.obolibrary.org/obo/HP_0001099	Atrophic fundus lesion	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		Well-defined or diffused area or lesion of loss of normal retinal tissue; this is often illustrated by greyish discoloration of fundus and/or better visible choroidal vasculature on funduscopy.
http://purl.obolibrary.org/obo/HP_0001172	Abnormal thumb morphology	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		An abnormal structure of the first digit of the hand.
http://purl.obolibrary.org/obo/HP_0001211	Abnormal fingertip morphology	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		An abnormal structure of the tip (end) of a finger.
http://purl.obolibrary.org/obo/HP_0001637	Abnormal myocardium morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		A structural anomaly of the muscle layer of the heart wall.
http://purl.obolibrary.org/obo/HP_0001739	Abnormal nasopharynx morphology	http://purl.obolibrary.org/obo/HP_0033151	Abnormal pharynx morphology		A structural anomaly of the nasopharynx.
http://purl.obolibrary.org/obo/HP_0001859	Distal toe symphalangism	http://purl.obolibrary.org/obo/HP_0100263	Distal symphalangism		Bony fusion at the distal interphalangeal joint of the second, third, fourth, or fifth toe.
http://purl.obolibrary.org/obo/HP_0001900	Increased circulating hemoglobin concentration	http://purl.obolibrary.org/obo/HP_0020061	Abnormal hemoglobin concentration		Concentration of hemoglobin in the blood circulation above the upper limit of normal.
http://purl.obolibrary.org/obo/HP_0001959	Polydipsia	http://purl.obolibrary.org/obo/HP_0030082	Abnormal drinking behavior		Excessive thirst manifested by excessive fluid intake.
http://purl.obolibrary.org/obo/HP_0001961	Hypoplastic ventricle	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		A congenital defect characterized by underdevelopment of a ventricle of the heart.
http://purl.obolibrary.org/obo/HP_0002037	Inflammation of the large intestine	http://purl.obolibrary.org/obo/HP_0004386	Gastrointestinal inflammation		Inflammation, or an inflammatory state in the large intestine.
http://purl.obolibrary.org/obo/HP_0002167	Abnormal speech pattern	http://purl.obolibrary.org/obo/HP_4000072	Abnormal language feature		An abnormality in the sound (volume) or cadence (rate) of speech.
http://purl.obolibrary.org/obo/HP_0002186	Apraxia	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
http://purl.obolibrary.org/obo/HP_0002219	Facial hypertrichosis	http://purl.obolibrary.org/obo/HP_0000998	Hypertrichosis		Excessive, increased hair growth located in the facial region.
http://purl.obolibrary.org/obo/HP_0002378	Hand tremor	http://purl.obolibrary.org/obo/HP_0030188	Tremor by anatomical site		An unintentional, oscillating to-and-fro muscle movement affecting the hand.
http://purl.obolibrary.org/obo/HP_0002395	Lower limb hyperreflexia	http://purl.obolibrary.org/obo/HP_0001347	Hyperreflexia		Increased intensity of the a reflex in the leg.
http://purl.obolibrary.org/obo/HP_0002450	Abnormal motor neuron morphology	http://purl.obolibrary.org/obo/HP_0012757	Abnormal neuron morphology		Any structural anomaly that affects the motor neuron.
http://purl.obolibrary.org/obo/HP_0002463	Language impairment	http://purl.obolibrary.org/obo/HP_0034434	Abnormal communication		Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
http://purl.obolibrary.org/obo/HP_0002491	Spasticity of facial muscles	http://purl.obolibrary.org/obo/HP_0001257	Spasticity		Spasticity of one or more muscles innervated by the facial nerve.
http://purl.obolibrary.org/obo/HP_0002561	Absent nipple	http://purl.obolibrary.org/obo/HP_0006709	Aplasia/Hypoplasia of the nipples		Congenital failure to develop, and absence of, the nipple.
http://purl.obolibrary.org/obo/HP_0002637	Cerebral ischemia	http://purl.obolibrary.org/obo/HP_0033401	Tissue ischemia		Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.
http://purl.obolibrary.org/obo/HP_0002686	Pregnancy history	http://purl.obolibrary.org/obo/HP_0032443	Past medical history		Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.
http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology	http://purl.obolibrary.org/obo/HP_0002086	Abnormality of the respiratory system		Abnormal function of the respiratory system.
http://purl.obolibrary.org/obo/HP_0002949	Fused cervical vertebrae	http://purl.obolibrary.org/obo/HP_0002948	Vertebral fusion		A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
http://purl.obolibrary.org/obo/HP_0003028	Abnormality of the ankle	http://purl.obolibrary.org/obo/HP_0100491	Abnormality of lower limb joint		An anomaly of the joint that connects the foot with the leg.
http://purl.obolibrary.org/obo/HP_0003073	Hypoalbuminemia	http://purl.obolibrary.org/obo/HP_0012116	Abnormal circulating albumin concentration		The concentration of albumin in the blood circulation is below the lower limit of normal.
http://purl.obolibrary.org/obo/HP_0003107	Abnormal circulating cholesterol concentration	http://purl.obolibrary.org/obo/HP_0003119	Abnormal circulating lipid concentration		Any deviation from the normal concentration of cholesterol in the blood circulation.
http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		Abnormal morphology of vertebral body.
http://purl.obolibrary.org/obo/HP_0003452	Increased circulating iron concentration	http://purl.obolibrary.org/obo/HP_0040130	Abnormal circulating iron concentration		The concentration of iron in the blood circulation is above the upper limit of normal.
http://purl.obolibrary.org/obo/HP_0003676	Progressive	http://purl.obolibrary.org/obo/HP_0003679	Pace of progression		Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.
http://purl.obolibrary.org/obo/HP_0003758	Reduced subcutaneous adipose tissue	http://purl.obolibrary.org/obo/HP_0040063	Decreased adipose tissue		A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
http://purl.obolibrary.org/obo/HP_0004307	Abnormal anatomic location of the heart	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		Developmental defect characterized by an anomalous anatomic location of the heart.
http://purl.obolibrary.org/obo/HP_0004324	Increased body weight	http://purl.obolibrary.org/obo/HP_0004323	Abnormality of body weight		Abnormally increased body weight.
http://purl.obolibrary.org/obo/HP_0004325	Decreased body weight	http://purl.obolibrary.org/obo/HP_0004323	Abnormality of body weight		Abnormally low body weight.
http://purl.obolibrary.org/obo/HP_0004368	Increased circulating purine concentration	http://purl.obolibrary.org/obo/HP_0004352	Abnormal circulating purine concentration		Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.
http://purl.obolibrary.org/obo/HP_0004369	Decreased circulating purine concentration	http://purl.obolibrary.org/obo/HP_0004352	Abnormal circulating purine concentration		Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.
http://purl.obolibrary.org/obo/HP_0004372	Reduced consciousness	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		Abnormally diminished level of attention, responsiveness, or wakefulness.
http://purl.obolibrary.org/obo/HP_0004386	Gastrointestinal inflammation	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		Inflammation of the alimentary part of the gastrointestinal system.
http://purl.obolibrary.org/obo/HP_0004408	Abnormality of the sense of smell	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		An anomaly in the ability to perceive and distinguish scents (odors).
http://purl.obolibrary.org/obo/HP_0004426	Abnormal cheek morphology	http://purl.obolibrary.org/obo/HP_0000309	Abnormal midface morphology		An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface
http://purl.obolibrary.org/obo/HP_0005750	Lower-limb joint contracture	http://purl.obolibrary.org/obo/HP_0003121	Limb joint contracture		A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
http://purl.obolibrary.org/obo/HP_0006505	Abnormal limb epiphysis morphology	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		An anomaly of one or more epiphyses of a limb.
http://purl.obolibrary.org/obo/HP_0007703	Abnormal retinal pigmentation	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		Any deviation from the normal pigmentation of the retina.
http://purl.obolibrary.org/obo/HP_0008057	Aplasia/Hypoplasia affecting the fundus	http://purl.obolibrary.org/obo/HP_0008056	Aplasia/Hypoplasia affecting the eye		A developmental defect characterized by lack of development or underdevelopment of the fundus/fovea.
http://purl.obolibrary.org/obo/HP_0008366	Foot joint contracture	http://purl.obolibrary.org/obo/HP_0005750	Lower-limb joint contracture		Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.
http://purl.obolibrary.org/obo/HP_0010535	Sleep apnea	http://purl.obolibrary.org/obo/HP_5200283	Sleep-related breathing disorders		An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
http://purl.obolibrary.org/obo/HP_0010981	Hypolipoproteinemia	http://purl.obolibrary.org/obo/HP_0010979	Abnormality of lipoprotein cholesterol concentration		An abnormal decrease in the level of lipoprotein cholesterol in the blood.
http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		Cognitive, psychiatric, or memory anomaly.
http://purl.obolibrary.org/obo/HP_0011450	Unusual CNS infection	http://purl.obolibrary.org/obo/HP_0032158	Unusual infection by anatomical site		A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.
http://purl.obolibrary.org/obo/HP_0011458	Abdominal symptom	http://purl.obolibrary.org/obo/HP_0025032	Abnormality of digestive system physiology		A subjective manifestation of disease localized to the abdomen.
http://purl.obolibrary.org/obo/HP_0011603	Congenital malformation of the great arteries	http://purl.obolibrary.org/obo/HP_0030962	Abnormal morphology of the great vessels		Defect or defects of the morphogenesis of the aorta and pulmonary arteries.
http://purl.obolibrary.org/obo/HP_0011723	Congenital malformation of the right heart	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		Defect or defects of the morphogenesis of the right heart identifiable at birth.
http://purl.obolibrary.org/obo/HP_0100235	Toe phalanx synostosis	http://purl.obolibrary.org/obo/HP_0009140	Synostosis involving bones of the feet		Any congenital union involving toe phalanges, whether it is end-to-end (symphalangism) or side-to-side (osseous syndactyly).
http://purl.obolibrary.org/obo/HP_0100360	Upper-limb joint contracture	http://purl.obolibrary.org/obo/HP_0003121	Limb joint contracture		A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
http://purl.obolibrary.org/obo/HP_0100543	Cognitive impairment	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
http://purl.obolibrary.org/obo/HP_0100587	Abnormal preputium morphology	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		An abnormality of the retractable fold of skin that covers the tip of the penis.
http://purl.obolibrary.org/obo/HP_0100593	Calcification of cartilage	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		The presence of calcium deposition in cartilage.
http://purl.obolibrary.org/obo/HP_0100658	Cellulitis	http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue		A bacterial infection and inflammation of the skin und subcutaneous tissues.
http://purl.obolibrary.org/obo/HP_0100716	Self-injurious behavior	http://purl.obolibrary.org/obo/HP_5200241	Recurrent maladaptive behavior		Self-aggression.
http://purl.obolibrary.org/obo/HP_0100738	Abnormal eating behavior	http://purl.obolibrary.org/obo/HP_0040202	Abnormal consumption behavior		Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.
http://purl.obolibrary.org/obo/HP_0100852	Abnormal fear-induced behavior	http://purl.obolibrary.org/obo/HP_5200241	Recurrent maladaptive behavior		An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.
http://purl.obolibrary.org/obo/IAO_0000078	curation status specification	http://purl.obolibrary.org/obo/IAO_0000102	data about an ontology part		The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value.
http://purl.obolibrary.org/obo/IAO_0000102	data about an ontology part	http://purl.obolibrary.org/obo/IAO_0000027	data item		Data about an ontology part is a data item about a part of an ontology, for example a term
http://purl.obolibrary.org/obo/IAO_0000225	obsolescence reason specification	http://purl.obolibrary.org/obo/IAO_0000102	data about an ontology part		The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value.
http://purl.obolibrary.org/obo/IAO_0000409	denotator type	http://purl.obolibrary.org/obo/IAO_0000102	data about an ontology part		A denotator type indicates how a term should be interpreted from an ontological perspective.
http://purl.obolibrary.org/obo/FOODON_03301977	beverage food product	http://purl.obolibrary.org/obo/FOODON_00002373	food by meal type		A liquid prepared for consumption, or a product that can be combined with water or milk to make one.
http://purl.obolibrary.org/obo/FOODON_03303918	human milk (raw)	http://purl.obolibrary.org/obo/FOODON_00001958	human milk based food product		Breast milk is the milk produced by the breasts (or mammary glands) of a human female.
http://purl.obolibrary.org/obo/FOODON_03305803	goat milk (raw)	http://purl.obolibrary.org/obo/FOODON_02021057	goat milk		Raw goat milk.
http://purl.obolibrary.org/obo/FOODON_03400361	agency food product type	http://purl.obolibrary.org/obo/FOODON_00002403	food material		An agency food product type is a class of food product defined by an agency or consortium.
http://purl.obolibrary.org/obo/FOODON_03411059	shellfish or crustacean	http://purl.obolibrary.org/obo/FOODON_00002581	aquatic invertebrate		Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish]
http://purl.obolibrary.org/obo/FOODON_03411261	fungus	http://purl.obolibrary.org/obo/FOODON_00004336	fungus material		A member of the group of eukaryotic organisms in the kingdom Fungi that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms.
http://purl.obolibrary.org/obo/FOODON_03414374	bovine	http://purl.obolibrary.org/obo/FOODON_03414381	bovid		The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns.
http://purl.obolibrary.org/obo/HP_0025408	Abnormal spleen morphology	http://purl.obolibrary.org/obo/HP_0001743	Abnormality of the spleen		Any anomaly of the structure of the spleen.
http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology	http://purl.obolibrary.org/obo/HP_0001600	Abnormality of the larynx		Any anomaly of the structure of the larynx.
http://purl.obolibrary.org/obo/HP_0025424	Abnormal larynx physiology	http://purl.obolibrary.org/obo/HP_0001600	Abnormality of the larynx		Any anomaly of the function of the larynx.
http://purl.obolibrary.org/obo/HP_0025426	Abnormal bronchus morphology	http://purl.obolibrary.org/obo/HP_0005607	Abnormal tracheobronchial morphology		Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.
http://purl.obolibrary.org/obo/HP_0025454	Abnormal CSF metabolite concentration	http://purl.obolibrary.org/obo/HP_0002921	Abnormal cerebrospinal fluid morphology		Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.
http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology	http://purl.obolibrary.org/obo/HP_0000014	Abnormality of the bladder		Any structural anomaly of the bladder.
http://purl.obolibrary.org/obo/HP_0030962	Abnormal morphology of the great vessels	http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology		A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.
http://purl.obolibrary.org/obo/HP_0030966	Abnormal pulmonary artery morphology	http://purl.obolibrary.org/obo/HP_0004414	Abnormality of the pulmonary artery		An abnormality of the structure of the pulmonary artery.
http://purl.obolibrary.org/obo/HP_0030968	Abnormal pulmonary vein morphology	http://purl.obolibrary.org/obo/HP_0011718	Abnormality of the pulmonary veins		An abnormality of the structure of the pulmonary veins.
http://purl.obolibrary.org/obo/HP_0031051	Tarsal sclerosis	http://purl.obolibrary.org/obo/HP_0100925	Sclerosis of foot bone		An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.
http://purl.obolibrary.org/obo/HP_0031066	Abnormal ovarian physiology	http://purl.obolibrary.org/obo/HP_0030012	Abnormal female reproductive system physiology		Any anomaly of ovarian function.
http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology	http://purl.obolibrary.org/obo/HP_0040070	Abnormal upper limb bone morphology		Any structural anomaly of the structure of the humerus (i.e., upper arm bone).
http://purl.obolibrary.org/obo/HP_0031137	Storage in hepatocytes	http://purl.obolibrary.org/obo/HP_0034644	Abnormal liver metabolite concentration		Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.
http://purl.obolibrary.org/obo/HP_0410030	Cleft lip	http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology		A gap in the lip or lips.
http://purl.obolibrary.org/obo/MONDO_0021138	bone marrow cancer	http://purl.obolibrary.org/obo/MONDO_0005374	bone marrow neoplasm		Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003
http://purl.obolibrary.org/obo/MONDO_0021310	malignant tumor of neck	http://purl.obolibrary.org/obo/MONDO_0021351	neoplasm of neck		A cancer that involves the neck.
http://purl.obolibrary.org/obo/MONDO_0021317	cancer of cerebellum	http://purl.obolibrary.org/obo/MONDO_0002913	cerebellar neoplasm		A cancer that involves the cerebellum.
http://purl.obolibrary.org/obo/MONDO_0021321	malignant tumor of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0021385	extrahepatic bile duct neoplasm		A cancer that involves the extrahepatic bile duct.
http://purl.obolibrary.org/obo/MONDO_0021322	malignant tumor of meninges	http://purl.obolibrary.org/obo/MONDO_0016743	tumor of meninges		A cancer that involves the meningeal cluster.
http://purl.obolibrary.org/obo/MONDO_0021327	carcinoma of urethra	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that involves the urethra.
http://purl.obolibrary.org/obo/MONDO_0021348	neoplasm of testis	http://purl.obolibrary.org/obo/MONDO_0024582	male reproductive system neoplasm		A neoplasm (disease) that involves the testis.
http://purl.obolibrary.org/obo/MONDO_0021350	neoplasm of thorax	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A neoplasm (disease) that involves the thoracic segment of trunk.
http://purl.obolibrary.org/obo/MONDO_0021353	tumor of uterus	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		A neoplasm (disease) that involves the uterus.
http://purl.obolibrary.org/obo/MONDO_0021354	tumor of adipose tissue	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		A neoplasm (disease) that involves the adipose tissue.
http://purl.obolibrary.org/obo/MONDO_0021355	neoplasm of esophagus	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the esophagus.
http://purl.obolibrary.org/obo/MONDO_0021366	neoplasm of middle ear	http://purl.obolibrary.org/obo/MONDO_0021233	ear neoplasm		A neoplasm (disease) that involves the middle ear.
http://purl.obolibrary.org/obo/MONDO_0021372	neoplasm of temporal lobe	http://purl.obolibrary.org/obo/MONDO_0021374	neoplasm of cerebral hemisphere		A neoplasm (disease) that involves the temporal lobe.
http://purl.obolibrary.org/obo/MONDO_0021373	neoplasm of parietal lobe	http://purl.obolibrary.org/obo/MONDO_0021374	neoplasm of cerebral hemisphere		A neoplasm (disease) that involves the parietal lobe.
http://purl.obolibrary.org/obo/MONDO_0021374	neoplasm of cerebral hemisphere	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A neoplasm involving a cerebral hemisphere.
http://purl.obolibrary.org/obo/MONDO_0021378	neoplasm of endocardium	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		A neoplasm (disease) that involves the endocardium.
http://purl.obolibrary.org/obo/MONDO_0021379	neoplasm of epicardium	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		A neoplasm (disease) that involves the epicardium.
http://purl.obolibrary.org/obo/MONDO_0021385	extrahepatic bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0021662	bile duct neoplasm		A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0021386	neoplasm of mediastinum	http://purl.obolibrary.org/obo/MONDO_0021350	neoplasm of thorax		A neoplasm (disease) that involves the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0021440	benign neoplasm of skin	http://purl.obolibrary.org/obo/MONDO_0002531	skin neoplasm		A benign neoplasm that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0021444	benign neoplasm of large intestine	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		A benign neoplasm that involves the large intestine.
http://purl.obolibrary.org/obo/MONDO_0021449	benign neoplasm of stomach	http://purl.obolibrary.org/obo/MONDO_0021085	gastric neoplasm		A benign neoplasm that involves the stomach.
http://purl.obolibrary.org/obo/MONDO_0021450	benign neoplasm of heart	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		A benign neoplasm that involves the heart.
http://purl.obolibrary.org/obo/MONDO_0021451	benign neoplasm of brain	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A benign neoplasm that involves the brain.
http://purl.obolibrary.org/obo/MONDO_0021465	benign neoplasm of appendix	http://purl.obolibrary.org/obo/MONDO_0021464	benign neoplasm of cecum		A benign neoplasm that involves the vermiform appendix.
http://purl.obolibrary.org/obo/MONDO_0021467	benign neoplasm of renal pelvis	http://purl.obolibrary.org/obo/MONDO_0003719	renal pelvis neoplasm		A benign neoplasm that involves the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0021469	benign neoplasm of anus	http://purl.obolibrary.org/obo/MONDO_0021462	benign neoplasm of rectum		A benign neoplasm that involves the anus.
http://purl.obolibrary.org/obo/MONDO_0021475	benign neoplasm of nasal cavity	http://purl.obolibrary.org/obo/MONDO_0004756	nasal cavity neoplasm		A benign neoplasm that involves the nasal cavity.
http://purl.obolibrary.org/obo/MONDO_0021482	benign neoplasm of middle ear	http://purl.obolibrary.org/obo/MONDO_0021474	benign neoplasm of ear		A benign neoplasm that involves the middle ear.
http://purl.obolibrary.org/obo/MONDO_0021483	benign neoplasm of frontal sinus	http://purl.obolibrary.org/obo/MONDO_0001757	frontal sinus neoplasm		A benign neoplasm that involves the frontal sinus.
http://purl.obolibrary.org/obo/MONDO_0021489	benign neoplasm of sweat gland	http://purl.obolibrary.org/obo/MONDO_0021440	benign neoplasm of skin		A benign neoplasm that involves the sweat gland.
http://purl.obolibrary.org/obo/MONDO_0021497	benign neoplasm of cerebrum	http://purl.obolibrary.org/obo/MONDO_0021451	benign neoplasm of brain		A benign neoplasm that involves the telencephalon.
http://purl.obolibrary.org/obo/MONDO_0021500	benign neoplasm of spleen	http://purl.obolibrary.org/obo/MONDO_0000630	immune system organ benign neoplasm		A benign neoplasm that involves the spleen.
http://purl.obolibrary.org/obo/MONDO_0021501	benign neoplasm of small intestine	http://purl.obolibrary.org/obo/MONDO_0004251	small intestine neoplasm		A benign neoplasm that involves the small intestine.
http://purl.obolibrary.org/obo/MONDO_0021503	benign neoplasm of gallbladder	http://purl.obolibrary.org/obo/MONDO_0021253	gallbladder neoplasm		A benign neoplasm that involves the gall bladder.
http://purl.obolibrary.org/obo/MONDO_0021506	benign neoplasm of spinal cord	http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm		A benign neoplasm that involves the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0021508	benign neoplasm of epicardium	http://purl.obolibrary.org/obo/MONDO_0021514	benign neoplasm of pericardium		A benign neoplasm that involves the epicardium.
http://purl.obolibrary.org/obo/MONDO_0021510	benign neoplasm of prostate	http://purl.obolibrary.org/obo/MONDO_0021259	prostate neoplasm		A benign neoplasm that involves the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0021512	benign neoplasm of thymus	http://purl.obolibrary.org/obo/MONDO_0005197	thymus neoplasm		A benign neoplasm that involves the thymus.
http://purl.obolibrary.org/obo/MONDO_0021514	benign neoplasm of pericardium	http://purl.obolibrary.org/obo/MONDO_0021381	neoplasm of pericardium		A benign neoplasm that involves the pericardium.
http://purl.obolibrary.org/obo/MONDO_0021517	benign neoplasm of trachea	http://purl.obolibrary.org/obo/MONDO_0021210	trachea neoplasm		A benign neoplasm that involves the trachea.
http://purl.obolibrary.org/obo/MONDO_0021521	benign neoplasm of mediastinum	http://purl.obolibrary.org/obo/MONDO_0021386	neoplasm of mediastinum		A benign neoplasm that involves the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0021525	benign neoplasm of corpus uteri	http://purl.obolibrary.org/obo/MONDO_0021254	corpus uteri neoplasm		A benign neoplasm that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0021527	benign neoplasm of meninges	http://purl.obolibrary.org/obo/MONDO_0016743	tumor of meninges		A benign neoplasm that involves the meningeal cluster.
http://purl.obolibrary.org/obo/MONDO_0021530	benign neoplasm of subglottis	http://purl.obolibrary.org/obo/MONDO_0002354	benign laryngeal neoplasm		A benign neoplasm that involves the subglottis.
http://purl.obolibrary.org/obo/MONDO_0021541	hemangioma of retina	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		A hemangioma that involves the retina.
http://purl.obolibrary.org/obo/MONDO_0021545	myomatous neoplasm	http://purl.obolibrary.org/obo/MONDO_0003939	muscle tissue disorder		A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.
http://purl.obolibrary.org/obo/MONDO_0021546	ependymal tumor of spinal cord	http://purl.obolibrary.org/obo/MONDO_0003266	ependymal tumor		An ependymal tumor that arises from the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0021568	renal tubule disorder	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A disease that involves the renal tubule.
http://purl.obolibrary.org/obo/MONDO_0021578	sternal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021350	neoplasm of thorax		A benign or malignant neoplasm that affects the sternum.
http://purl.obolibrary.org/obo/MONDO_0021579	neoplasm of femur	http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm		A neoplasm (disease) that involves the femur.
http://purl.obolibrary.org/obo/MONDO_0021580	neoplasm of jaw	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the jaw skeleton.
http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.
http://purl.obolibrary.org/obo/MONDO_0021629	uterine ligament neoplasm	http://purl.obolibrary.org/obo/MONDO_0021230	uterine cervix neoplasm		A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0021631	brain astrocytoma	http://purl.obolibrary.org/obo/MONDO_0019781	astrocytoma (excluding glioblastoma)		A astrocytoma (excluding glioblastoma) that involves the brain.
http://purl.obolibrary.org/obo/MONDO_0021634	epithelial skin neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A epithelial neoplasm that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0021636	astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0021042	glioma		A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.
http://purl.obolibrary.org/obo/MONDO_0021662	bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0005304	biliary tract neoplasm		A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0021666	ear infection	http://purl.obolibrary.org/obo/MONDO_0021205	disorder of ear		A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.
http://purl.obolibrary.org/obo/MONDO_0021667	neuralgia	http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder		A pain disorder characterize by pain in the distribution of a nerve or nerves
http://purl.obolibrary.org/obo/MONDO_0021680	streptococcal infection	http://purl.obolibrary.org/obo/MONDO_0021679	gram-positive bacterial infections		Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.
http://purl.obolibrary.org/obo/MONDO_0021698	alcohol-related disorders	http://purl.obolibrary.org/obo/MONDO_0002494	substance-related disorder		Disorders related to or resulting from abuse or mis-use of alcohol.
http://purl.obolibrary.org/obo/MONDO_0021699	alcohol-induced disorders	http://purl.obolibrary.org/obo/MONDO_0021698	alcohol-related disorders		Disorders stemming from the misuse and abuse of alcohol.
http://purl.obolibrary.org/obo/MONDO_0021490	benign neoplasm of sebaceous gland	http://purl.obolibrary.org/obo/MONDO_0021440	benign neoplasm of skin		A benign neoplasm that involves the sebaceous gland.
http://purl.obolibrary.org/obo/MONDO_0021522	benign neoplasm of lower jaw bone	http://purl.obolibrary.org/obo/MONDO_0021580	neoplasm of jaw		A benign neoplasm that involves the bone of lower jaw.
http://purl.obolibrary.org/obo/MONDO_0021539	hamartoma of skin appendage	http://purl.obolibrary.org/obo/MONDO_0006499	hamartoma		A hamartoma (disease) that involves the cutaneous appendage.
http://purl.obolibrary.org/obo/MONDO_0021630	lipoma of face	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		A lipoma that involves the face.
http://purl.obolibrary.org/obo/MONDO_0021315	malignant tumor of nasopharynx	http://purl.obolibrary.org/obo/MONDO_0005517	pharynx cancer		A cancer that involves the nasopharynx.
http://purl.obolibrary.org/obo/MONDO_0024607	congenital muscular dystrophy with cataracts and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder	http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system		An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.
http://purl.obolibrary.org/obo/FOODON_00002470	food material characteristic	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		A physical object quality which describes a characteristic of some food material.
http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		A disorder of the blood that is present at birth.
http://purl.obolibrary.org/obo/MONDO_0020579	mucositis	http://purl.obolibrary.org/obo/MONDO_0021166	inflammatory disease		Inflammation of the mucous membranes.
http://purl.obolibrary.org/obo/MONDO_0020589	cardiac germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.
http://purl.obolibrary.org/obo/MONDO_0020593	trichoblastoma	http://purl.obolibrary.org/obo/MONDO_0024666	benign epithelial skin neoplasm		A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.
http://purl.obolibrary.org/obo/MONDO_0020594	abducens nerve disorder	http://purl.obolibrary.org/obo/MONDO_0003620	peripheral nervous system disorder		A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).
http://purl.obolibrary.org/obo/MONDO_0020672	vascular occlusion disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.
http://purl.obolibrary.org/obo/MONDO_0020673	arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0020672	vascular occlusion disorder		Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.
http://purl.obolibrary.org/obo/MONDO_0020587	factor XI deficiency	http://purl.obolibrary.org/obo/MONDO_0018660	hemophilia		A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.
http://purl.obolibrary.org/obo/ENVO_01001609	cryospheric layer	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		A layer which is part of a cryosphere.
http://purl.obolibrary.org/obo/ENVO_01001614	ice-bearing permafrost	http://purl.obolibrary.org/obo/ENVO_00000134	permafrost		Permafrost which contains inclusions of water-based ice.
http://purl.obolibrary.org/obo/ENVO_01001620	mass of ice and snow	http://purl.obolibrary.org/obo/ENVO_01000293	ice mass		A object which is composed primarily of water-based snow and ice.
http://purl.obolibrary.org/obo/ENVO_01001645	gaseous part of an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001478	gaseous astronomical body part		That part of an atmosphere which is composed of gaseous material.
http://purl.obolibrary.org/obo/ENVO_01001646	amorphous solid	http://purl.obolibrary.org/obo/ENVO_01000814	solid environmental material		A solid material which does not have a regularly organised internal structure.
http://purl.obolibrary.org/obo/ENVO_01001652	atmospheric aerosol	http://purl.obolibrary.org/obo/ENVO_00010505	aerosol		An aerosol that is suspended in an atmosphere.
http://purl.obolibrary.org/obo/ENVO_01001654	aerosol formation process	http://purl.obolibrary.org/obo/ENVO_03000043	material transformation process		A material transformation process during which solid or liquid particles form and are suspended in a mass of air, thus creating an aerosol.
http://purl.obolibrary.org/obo/ENVO_01001673	fluid surface layer	http://purl.obolibrary.org/obo/ENVO_00010504	surface layer		A surface layer which is composed primarily of some liquid or gas.
http://purl.obolibrary.org/obo/ENVO_01001678	fluid layer	http://purl.obolibrary.org/obo/ENVO_01000281	layer		A layer which is composed primarily of some fluid.
http://purl.obolibrary.org/obo/ENVO_01001680	gaseous front	http://purl.obolibrary.org/obo/ENVO_01001679	fluid front		A fluid front which is composed primarily of gaseous material and separates at least two gaseous masses.
http://purl.obolibrary.org/obo/ENVO_01001682	air mass	http://purl.obolibrary.org/obo/ENVO_01001689	mass of gas		An object which is composed of a continuous mass of air.
http://purl.obolibrary.org/obo/ENVO_01001683	gaseous surface layer	http://purl.obolibrary.org/obo/ENVO_01001673	fluid surface layer		A fluid surface layer which is composed primarily of some gaseous material.
http://purl.obolibrary.org/obo/ENVO_01001684	interface layer	http://purl.obolibrary.org/obo/ENVO_01000281	layer		A layer which separates two portions of environmental material which possess 1) differing compositions, 2) a discontinuity of some property, or 3) some derivative of some property in a direction normal to the interface.
http://purl.obolibrary.org/obo/ENVO_01001686	mass of environmental material	http://purl.obolibrary.org/obo/BFO_0000030	object		An object which is composed primarily of an environmental material
http://purl.obolibrary.org/obo/ENVO_01001687	mass of solid material	http://purl.obolibrary.org/obo/ENVO_01001686	mass of environmental material		An mass of environmental material which is composed primarily of a solid environmental material
http://purl.obolibrary.org/obo/ENVO_01001688	mass of fluid	http://purl.obolibrary.org/obo/ENVO_01001686	mass of environmental material		An object which is composed primarily of a fluid.
http://purl.obolibrary.org/obo/ENVO_01001689	mass of gas	http://purl.obolibrary.org/obo/ENVO_01001688	mass of fluid		An object which is composed primarily of a gas.
http://purl.obolibrary.org/obo/ENVO_01001690	mass of liquid	http://purl.obolibrary.org/obo/ENVO_01001688	mass of fluid		An object which is composed primarily of a liquid.
http://purl.obolibrary.org/obo/ENVO_01001691	mass of compounded environmental materials	http://purl.obolibrary.org/obo/ENVO_01001686	mass of environmental material		An mass of environmental materials which has appreciable quantities of several individual materials, such that the removal of one would convert the mass into a different entity.
http://purl.obolibrary.org/obo/ENVO_01001747	mass fluid flow	http://purl.obolibrary.org/obo/ENVO_01001334	advective transport process		An advective transport process during which a fluid moves.
http://purl.obolibrary.org/obo/ENVO_01001780	desert ecosystem	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		An ecosystem in which the composition, structure, and function of resident ecological assemblages are primarily determined by a desert.
http://purl.obolibrary.org/obo/ENVO_01001781	part of a landmass	http://purl.obolibrary.org/obo/ENVO_00000191	solid astronomical body part		A solid astronomical body part which is part of the landmass of that body.
http://purl.obolibrary.org/obo/ENVO_01001790	terrestrial ecosystem	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		An ecosystem which primarily occurs on land.
http://purl.obolibrary.org/obo/ENVO_01001795	ecosystem process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		An environmental process either driven by or primarily impacting the parts or emergent properties of an ecosystem.
http://purl.obolibrary.org/obo/ENVO_01001813	construction	http://purl.obolibrary.org/obo/BFO_0000040	material entity		A material entity which has been assembled through the intentional, instinctual, or deliberately programmed efforts of an organism or machine.
http://purl.obolibrary.org/obo/ENVO_01001814	organic object	http://purl.obolibrary.org/obo/ENVO_01001686	mass of environmental material		An object which is formed as a result of one or more biological processes and is composed primarily of organic material.
http://purl.obolibrary.org/obo/ENVO_01001835	alpine biome	http://purl.obolibrary.org/obo/ENVO_00000428	biome		A biome which is subject to alpine altitudinal conditions.
http://purl.obolibrary.org/obo/ENVO_01001836	montane biome	http://purl.obolibrary.org/obo/ENVO_00000428	biome		A biome which is subject to montane altitudinal conditions.
http://purl.obolibrary.org/obo/ENVO_01001838	arid biome	http://purl.obolibrary.org/obo/ENVO_00000428	biome		A biome which is subject to arid environmental conditions.
http://purl.obolibrary.org/obo/ENVO_01001852	energy transfer process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		A process during which one entity loses energy to another entity.
http://purl.obolibrary.org/obo/ENVO_01001856	liquid accumulation process	http://purl.obolibrary.org/obo/ENVO_03000009	material accumulation process		A material accumulation process during which the volume of liquid entity increases.
http://purl.obolibrary.org/obo/ENVO_01001865	concentration of carbon dioxide in an atmosphere	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of carbon dioxide when measured in air that is part of an atmosphere.
http://purl.obolibrary.org/obo/ENVO_04000003	concentration of carbon dioxide in soil	http://purl.obolibrary.org/obo/ENVO_3200071	concentration of organic molecular entity in soil		The concentration of carbon dioxide when measured in soil.
http://purl.obolibrary.org/obo/ENVO_04000004	concentration of carbon dioxide in air	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of carbon dioxide when measured in air.
http://purl.obolibrary.org/obo/ENVO_04000006	concentration of carbon dioxide in seawater	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of carbon dioxide when measured in seawater.
http://purl.obolibrary.org/obo/ENVO_04000010	soil surface layer	http://purl.obolibrary.org/obo/ENVO_01001311	solid surface layer		A surface layer which is composed primarily of soil.
http://purl.obolibrary.org/obo/ENVO_3200023	concentration of cobalt in water ice	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of cobalt when measured in water ice.
http://purl.obolibrary.org/obo/ENVO_3200042	concentration of cobalt in snow	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of cobalt when measured in snow.
http://purl.obolibrary.org/obo/ENVO_3200059	concentration of urea in liquid water	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of urea when measured in liquid water.
http://purl.obolibrary.org/obo/HP_0034181	Aplasia/Hypoplasia of the liver	http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology		Absence or underdevelopment of the liver.
http://purl.obolibrary.org/obo/HP_0034221	Abnormal temporal lobe morphology	http://purl.obolibrary.org/obo/HP_0002538	Abnormal cerebral cortex morphology		An abnormal structural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.
http://purl.obolibrary.org/obo/HP_0034242	Abnormal fetal genitourinary system morphology	http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology		An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
http://purl.obolibrary.org/obo/ENVO_09000026	concentration of liquid water in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of a liquid water when measured in soil.
http://purl.obolibrary.org/obo/MONDO_0100122	GNPTAB-mucolipidosis	http://purl.obolibrary.org/obo/MONDO_0019248	mucolipidosis		An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.
http://purl.obolibrary.org/obo/MONDO_0800406	ABCA4-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.
http://purl.obolibrary.org/obo/MONDO_0700116	microcephaly with lissencephaly and/or hydranencephaly	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.
http://purl.obolibrary.org/obo/MONDO_0100182	schizophrenia, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing schizophrenia.
http://purl.obolibrary.org/obo/MONDO_0800373	carbon monoxide poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to carbon monoxide.
http://purl.obolibrary.org/obo/MONDO_0100254	CACNA1A-related complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100516	complex neurodevelopmental disorder with motor features		A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.
http://purl.obolibrary.org/obo/MONDO_0100227	ALS2-related motor neuron disease	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.
http://purl.obolibrary.org/obo/MONDO_0100236	LTBP2-related ocular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.
http://purl.obolibrary.org/obo/MONDO_0100235	FOXC1-related anterior segment dysgenesis	http://purl.obolibrary.org/obo/MONDO_0011119	iridogoniodysgenesis		Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.
http://purl.obolibrary.org/obo/MONDO_0100009	structural congenital heart disease, multiple types - GATA4	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene.
http://purl.obolibrary.org/obo/MONDO_0100521	NOG-related symphalangism spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0000151	symphalangism		An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.
http://purl.obolibrary.org/obo/MONDO_0100523	SPAST-related motor disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,
http://purl.obolibrary.org/obo/FOODON_02010001	animal substance	http://purl.obolibrary.org/obo/FOODON_03420164	animal material		Material which is produced by an animal.
http://purl.obolibrary.org/obo/FOODON_02010012	animal milk	http://purl.obolibrary.org/obo/UBERON_0001913	milk		Milk which is produced by animal lactation.
http://purl.obolibrary.org/obo/FOODON_02010013	animal milk (raw)	http://purl.obolibrary.org/obo/FOODON_02010012	animal milk		Raw animal milk.
http://purl.obolibrary.org/obo/HP_5200202	Abnormal interpretation of external stimuli	http://purl.obolibrary.org/obo/HP_5200423	Abnormal experience of reality		Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.
http://purl.obolibrary.org/obo/CHEBI_228138	antinociceptive agent	http://purl.obolibrary.org/obo/CHEBI_52210	pharmacological role		Any agent that inhibits nociception.
http://purl.obolibrary.org/obo/MONDO_0800486	metabolic bone disorder	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.
http://purl.obolibrary.org/obo/MONDO_0700227	ELOVL4-related maculopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any maculopathy caused by a variant in the ELOVL4 gene.
http://purl.obolibrary.org/obo/MONDO_0700228	LRP5-related exudative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0019516	exudative vitreoretinopathy		Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.
http://purl.obolibrary.org/obo/MONDO_0700230	GPR143-related foveal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0044203	foveal hypoplasia		Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene.
http://purl.obolibrary.org/obo/MONDO_0700234	PRPF8-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a variant in the PRPF8 gene.
http://purl.obolibrary.org/obo/MONDO_0700243	CACNA1F-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a variant in the CACNA1F gene.
http://purl.obolibrary.org/obo/MONDO_0800462	FHL1-related myopathy	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.
http://purl.obolibrary.org/obo/MONDO_0800477	SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features.
http://purl.obolibrary.org/obo/HP_0430047	Large joint hypermobilty	http://purl.obolibrary.org/obo/HP_0001382	Joint hypermobility		The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles.
http://purl.obolibrary.org/obo/MONDO_1011029	congenital myasthenic syndrome, CHAT-related, dog	http://purl.obolibrary.org/obo/MONDO_1011851	congenital neuromuscular disease, non-human animal		An early onset syndrome of impaired neuromuscular transmission associated with a defect in acetylcholine synthesis in dogs due to a variation in the CHAT gene.
http://purl.obolibrary.org/obo/MONDO_1011202	amelogenesis imperfecta, ENAM-related, dog	http://purl.obolibrary.org/obo/MONDO_1012952	amelogenesis imperfecta, non-human animal		An inherited disorder affecting the structure, composition, and quantity of tooth enamel in dogs due to a variation in the ENAM gene.
http://purl.obolibrary.org/obo/MONDO_1011209	amelogenesis imperfecta, ACP4-related, dog	http://purl.obolibrary.org/obo/MONDO_1012952	amelogenesis imperfecta, non-human animal		An inherited disorder affecting the structure, composition, and quantity of tooth enamel in dogs due to a variation in the ACP4 gene.
http://purl.obolibrary.org/obo/MONDO_1011255	congenital stationary night blindness, TRPM1-related, horse	http://purl.obolibrary.org/obo/MONDO_1011975	congenital blindness, non-human animal		Non-progressive vision impairment in dim or absent lighting in horses due to a variation in the TRPM1 gene. Specifically, horses homozygous for a white spotting phenotype, known as leopard complex spotting, are affected by CSNB.
http://purl.obolibrary.org/obo/MONDO_1011262	congenital stationary night blindness, LRIT3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011975	congenital blindness, non-human animal		Non-progressive vision impairment in dim or absent lighting in dogs due to a variation in the LRIT3 gene.
http://purl.obolibrary.org/obo/MONDO_1012153	megaesophagus, dog	http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal		Megaesophagus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1012154	megaesophagus, domestic ferret	http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal		Megaesophagus that occurs in domestic ferret.
http://purl.obolibrary.org/obo/MONDO_1012155	megaesophagus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal		Megaesophagus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1012156	megaesophagus, horse	http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal		Megaesophagus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1012157	megaesophagus, llama	http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal		Megaesophagus that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1012158	megaesophagus, cattle	http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal		Megaesophagus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1012159	megaesophagus, goat	http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal		Megaesophagus that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1012160	megaesophagus, sheep	http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal		Megaesophagus that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1012161	cutaneous malignant melanoma in Sinclair swine, pig	http://purl.obolibrary.org/obo/MONDO_0700132	melanoma, non-human animal		Cutaneous malignant melanoma that occurs in Sinclair swine.
http://purl.obolibrary.org/obo/MONDO_1012284	stomach ulcer, pig	http://purl.obolibrary.org/obo/MONDO_1011662	stomach ulcer, non-human animal		Stomach ulcer that occurs in pigs.
http://purl.obolibrary.org/obo/MONDO_1012474	retinal degeneration, Smoky Joe, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Retinal degeneration that occurs in the Smoky Joe breed of chicken.
http://purl.obolibrary.org/obo/MONDO_1012477	disproportionate short-limbed chondrodysplasia, ITGA10-related, dog	http://purl.obolibrary.org/obo/MONDO_1011965	disproportionate short-limbed chondrodysplasia, non-human animal		Any disproportionate short-limbed chondrodysplasia that occurs in dogs due to a mutation in the ITGA10 gene.
http://purl.obolibrary.org/obo/MONDO_1030004	Mollaret’s meningitis	http://purl.obolibrary.org/obo/MONDO_0007015	viral meningitis		A rare clinical disorder characterized by at least three recurrent episodes of meningitis associated with spontaneous recovery with or without antiviral therapy. Herpes simplex virus type 2 has frequently been implicated in the setting of this illness. RBLM is rare with prevalence rates estimated at 2 per 100,000 persons.
http://purl.obolibrary.org/obo/MONDO_1040011	vertebral artery dissection	http://purl.obolibrary.org/obo/MONDO_0006061	cervical artery dissection		A human disorder which results from a tear in one of the major cervicocerebral arteries, allowing blood to enter the wall of the artery and split its layers. Pathogenesis typically leads to either stenosis or aneurysmal dilatation of the vessel.
http://purl.obolibrary.org/obo/MONDO_1040020	methicillin-susceptible staphylococcus aureus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005545	staphylococcus aureus infection		A bacterial infectious disease caused by methicillin-susceptible staphylococcus aureus.
http://purl.obolibrary.org/obo/MONDO_1040026	metastatic malignant neoplasm in the brain	http://purl.obolibrary.org/obo/MONDO_0001657	brain cancer		A malignant neoplasm that has spread to the brain from another anatomic site.
http://purl.obolibrary.org/obo/MONDO_1040029	Sharpin-related autoinflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An autoinflammatory disease in which the cause of the disease is a variation in the Sharpin gene.
http://purl.obolibrary.org/obo/MONDO_1040030	GBA1-related Parkinson disease, susceptibility	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A susceptibility or predisposition to Parkinsons disease in which the cause of the disease is the presence of a monoallelic pathogenic variant or risk allele in the GBA1 gene.
http://purl.obolibrary.org/obo/MONDO_1040033	congenital muscular dystrophy without intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		A congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
http://purl.obolibrary.org/obo/MONDO_1030005	mosaic SMO syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		A somatic mosaic condition caused by a postzygotic mutation (c.1234 C>T p.Leu412Phe) in the SMO gene. Two overlapping clinical syndromes associated with this variant in SMO have been reported; Curry-Jones Syndrome (MIM:601707) and Happle-Tinschert Syndrome. The syndrome is characterized by cutaneous and skeletal manifestations such as linear hypo‐ or hyperpigmented lesions, basaloid follicular hamartomas, palmoplantar pitting, atrophoderma, hypertrichosis, polydactyly or syndactyly, rib anomalies (rudimentary ribs), and limb‐length anomalies. Craniofacial and dental abnormalities such as dysmorphic facies, macrocephaly, craniosynostosis, jaw tumors (ameloblastoma) have also been reported. Additional abnormalities impacting the gastrointestinal, cerebral, ophthalmic, and gonadal organs should also be considered. Some of these features include anal anomaly, colonic adenocarcinoma, severe constipation, myelofibrosis and smooth muscle hamartomas, malrotation, medulloblastoma, cerebral malformations, developmental delay, cataract, microphthalmia, coloboma, glaucoma, and cryptorchidism.
http://purl.obolibrary.org/obo/MONDO_0971058	verruga peruana	http://purl.obolibrary.org/obo/MONDO_0018984	Oroya fever		A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with Bartonella bacilliformis. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low.
http://purl.obolibrary.org/obo/MONDO_0971062	developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation	http://purl.obolibrary.org/obo/MONDO_0859257	intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism		An intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism in which the cause of the disease is a point mutation in the gene NR4A2.
http://purl.obolibrary.org/obo/MONDO_0971172	neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A syndromic neurodevelopmental disorder in which the cause of the disease is a variation in RNU4-2 gene and is inherited in an autosomal dominant pattern. It is characterized by moderate to severe global developmental delay/intellectual disability, speech anomalies (mostly non-verbal), hypotonia, abnormal brain MRI (reduced white matter volume, hypoplasia of the corpus callosum, ventriculomegaly, and delayed myelination), dysmorphic facial features, short stature, microcephaly, behavioral issues, seizures and feeding difficulties, as well as variable vision, gastrointestinal, endocrine, skeletal, genitourinary, cardiac, and cutaneous anomalies. It has autosomal dominant inheritance.
http://purl.obolibrary.org/obo/MONDO_0971174	multiple mitochondrial dysfunctions syndrome 9b	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures.
http://purl.obolibrary.org/obo/MONDO_0971179	arterial tortuosity-bone fragility syndrome	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood.
http://purl.obolibrary.org/obo/MONDO_1010406	hyperphagia leading to hepatic steatosis, pig	http://purl.obolibrary.org/obo/MONDO_1011429	hepatic lipidosis, non-human animal		Hereditary increased feed intake leading to fatty liver in pigs due to a variation in the MC4R gene.
http://purl.obolibrary.org/obo/MONDO_1010510	dilated cardiomyopathy PLN-related, dog	http://purl.obolibrary.org/obo/MONDO_1010448	dilated cardiomyopathy, dog		Any dilated cardiomyopathy in dogs in which the cause of the disease is a mutation in the PLN gene.
http://purl.obolibrary.org/obo/MONDO_1010511	hypertrophic cardiomyopathy, SGCD-related, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010437	cardiomyopathy, golden hamster		Any hypertrophic cardiomyopathy in golden hamsters in which the cause of the disease is a mutation in the SGCD gene.
http://purl.obolibrary.org/obo/MONDO_1010512	hypertrophic cardiomyopathy, SGCD-related, pig	http://purl.obolibrary.org/obo/MONDO_1010460	hypertrophic cardiomyopathy, pig		Any hypertrophic cardiomyopathy in pigs in which the cause of the disease is a mutation in the SGCD gene.
http://purl.obolibrary.org/obo/MONDO_1010616	congenital dyshormonogenic hypothyroidism with goiter, SLC5A5-related, dog	http://purl.obolibrary.org/obo/MONDO_1010602	congenital hypothyroidism, TPO-related, dog		Any congenital hypothyroidism in dogs in which the cause of the disease is a mutation in the SCL5AG gene.
http://purl.obolibrary.org/obo/MONDO_1010617	congenital hypothyroidism, DUOX2-related, pig	http://purl.obolibrary.org/obo/MONDO_1010057	congenital hypothyroidism, non-human animal		Any congenital hypothyroidism in pigs in which the cause of the disease is a mutation in the DUOX2 gene.
http://purl.obolibrary.org/obo/MONDO_1010667	bleeding disorder P2RY12-related, dog	http://purl.obolibrary.org/obo/MONDO_1011695	thrombopathia, non-human animal		Hereditary thrombopathia associated with a defect in the ADP receptor P2Y12 in dogs due to a variation in the P2Y12 gene.
http://purl.obolibrary.org/obo/MONDO_1010670	methemoglobinemia, CYB5R3-related, dog	http://purl.obolibrary.org/obo/MONDO_7770487	methemoglobinemia, dog		Any methemoglobinemia in dogs in which the cause of the disease is a mutation in the CYB5R3 gene.
http://purl.obolibrary.org/obo/MONDO_1010671	methemoglobinemia, CYB5R3-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011559	methemoglobinemia, domestic cat		Any methemoglobinemia in cats in which the cause of the disease is a mutation in the CYB5R3 gene.
http://purl.obolibrary.org/obo/MONDO_1010673	thrombopathia, RASGRP2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012273	thrombopathia, dog		Any thrombopathia in dogs in which the cause of the disease is a mutation in the RASGRP2 gene.
http://purl.obolibrary.org/obo/MONDO_1010674	thrombopathia, RASGRP2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011695	thrombopathia, non-human animal		Any thrombopathia in cattle in which the cause of the disease is a mutation in the RASGRP2 gene.
http://purl.obolibrary.org/obo/MONDO_1010700	maple syrup urine disease, BCKDHA-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Hereditary progressive neurological disease, resulting in death within a few days of birth due to a deficiency of activity of the mitochondrial enzyme branched-chain alpha-keto acid dehydrogenase (BCKADH) leading to elevated concentrations of branched chain alpha-keto acids and their precursors, the branched chain amino acids, valine, leucine and isoleucine in blood and tissues in cattle due to a variation in the BCKDHA gene.
http://purl.obolibrary.org/obo/MONDO_1010730	X-linked severe combined immunodeficiency disease, IL2RG-related, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011422	severe combined immunodeficiency disease, non-human animal		Any severe combined immunodeficiency disease in golden hamsters in which the cause of the disease is a mutation in the IL2RG gene.
http://purl.obolibrary.org/obo/MONDO_1010731	X-linked severe combined immunodeficiency disease, IL2RG-related, dog	http://purl.obolibrary.org/obo/MONDO_1011596	severe combined immunodeficiency disease, PRKDC-related, dog		Any severe combined immunodeficiency disease in dogs in which the cause of the disease is a mutation in the IL2RG gene.
http://purl.obolibrary.org/obo/MONDO_1010732	X-linked severe combined immunodeficiency disease, IL2RG-related, pig	http://purl.obolibrary.org/obo/MONDO_1011422	severe combined immunodeficiency disease, non-human animal		Any severe combined immunodeficiency disease in pigs in which the cause of the disease is a mutation in the IL2RG gene.
http://purl.obolibrary.org/obo/MONDO_1010738	severe combined immunodeficiency disease, RAG1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011596	severe combined immunodeficiency disease, PRKDC-related, dog		Any severe combined immunodeficiency disease in dogs in which the cause of the disease is a mutation in the RAG1 gene.
http://purl.obolibrary.org/obo/MONDO_1010739	severe combined immunodeficiency disease, pig	http://purl.obolibrary.org/obo/MONDO_1011422	severe combined immunodeficiency disease, non-human animal		This disorder was engineered via the TALEN technology to create mutations in the RAG1 and/or RAG2 genes for the purpose of establishing a porcine model of SCID.
http://purl.obolibrary.org/obo/MONDO_1010742	immunodeficiency IL17RA-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		Hereditary severe ulcerative dermatitis, growth restriction and increased infectious disease susceptibility in cattle due to a variation in the IL17RA gene.
http://purl.obolibrary.org/obo/MONDO_1010746	Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011493	Ehlers-Danlos syndrome, dog		Any Ehlers-Danlos syndrome in dogs in which the cause of the disease is a mutation in the ADAMTS2 gene.
http://purl.obolibrary.org/obo/MONDO_1010747	Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011494	Ehlers-Danlos syndrome, domestic cat		Any Ehlers-Danlos syndrome in domestic cats in which the cause of the disease is a mutation in the ADAMTS2 gene.
http://purl.obolibrary.org/obo/MONDO_1010748	Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Any Ehlers-Danlos syndrome in cattle in which the cause of the disease is a mutation in the ADAMTS2 gene.
http://purl.obolibrary.org/obo/MONDO_1010749	Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011497	Ehlers-Danlos syndrome, sheep		Any Ehlers-Danlos syndrome in sheep in which the cause of the disease is a mutation in the ADAMTS2 gene.
http://purl.obolibrary.org/obo/MONDO_1010754	X-linked hypohidrotic ectodermal dysplasia, EDA-related, dog	http://purl.obolibrary.org/obo/MONDO_1012576	hypohidrotic ectodermal dysplasia, non-human animal		Hereditary sparse hair and dental aplasia in dogs associated with a variation in the EDA gene.
http://purl.obolibrary.org/obo/MONDO_1010755	X-linked hypohidrotic ectodermal dysplasia, EDA-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012576	hypohidrotic ectodermal dysplasia, non-human animal		Hereditary sparse hair and dental aplasia in cattle associated with a variation in the EDA gene.
http://purl.obolibrary.org/obo/MONDO_1010756	ichthyosis TGM1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Hereditary severe hyperkeratosis in dogs due to a variation in the TGM1 gene.
http://purl.obolibrary.org/obo/MONDO_1010786	ichthyosis SLC27A4-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Hereditary generalized severe hyperkeratosis with a formation of a strongly wrinkled, thickened and scaling skin in dogs due to a variation in the SLC27A4 gene.
http://purl.obolibrary.org/obo/MONDO_1010787	ichthyosis NIPAL4-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Hereditary hyperkeratosis characterized by generalized scaling in dogs due to a variation in the NIPAL4 gene.
http://purl.obolibrary.org/obo/MONDO_1010788	Ehlers-Danlos syndrome, kyphoscoliotic type, PLOD1-related, horse	http://purl.obolibrary.org/obo/MONDO_1011495	Ehlers-Danlos syndrome, PPIB-related, horse		Any Ehlers-Danlos syndrome in horses in which the cause of the disease is a mutation in the PLOD1 gene.
http://purl.obolibrary.org/obo/MONDO_1010793	Ehlers-Danlos syndrome, classic type, COL5A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011493	Ehlers-Danlos syndrome, dog		Any Ehlers-Danlos syndrome in dogs in which the cause of the disease is a mutation in the COL5A1 gene.
http://purl.obolibrary.org/obo/MONDO_1010794	Ehlers-Danlos syndrome, classic type, COL5A1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011494	Ehlers-Danlos syndrome, domestic cat		Any Ehlers-Danlos syndrome in domestic cats in which the cause of the disease is a mutation in the COL5A1 gene.
http://purl.obolibrary.org/obo/MONDO_1010795	Ehlers-Danlos syndrome, classic-like, TNXB-related, dog	http://purl.obolibrary.org/obo/MONDO_1011493	Ehlers-Danlos syndrome, dog		Any Ehlers-Danlos syndrome in dogs in which the cause of the disease is a mutation in the TNXB gene.
http://purl.obolibrary.org/obo/MONDO_1010797	Ehlers-Danlos syndrome, classic type, COL5A2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011493	Ehlers-Danlos syndrome, dog		Any Ehlers-Danlos syndrome in dogs in which the cause of the disease is a mutation in the COL5A2 gene.
http://purl.obolibrary.org/obo/MONDO_1010798	Ehlers-Danlos syndrome, classic type, COL5A2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Any Ehlers-Danlos syndrome in cattle in which the cause of the disease is a mutation in the COL5A2 gene.
http://purl.obolibrary.org/obo/MONDO_1010914	muscular hypertrophy, MSTN-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Hereditary abnormal increase in muscular tissue caused by enlargement of existing cells in cattle due to a variation in the MSTN gene.
http://purl.obolibrary.org/obo/MONDO_1010933	congenital increased muscular tonus, MYBPC1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Hereditary weakness, stiffness, trembling in cattle in which the cause of the disease in a variation in the MYBPC1 gene.
http://purl.obolibrary.org/obo/MONDO_1010935	nemaline myopathy, NEB-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Hereditary generalized muscle atrophy characterized by the histological presence of rod-like inclusion bodies in skeletal muscle fibers in dogs due a variation in the NEB gene.
http://purl.obolibrary.org/obo/MONDO_1010957	colorectal cancer, MLH1-related, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_0700099	adenocarcinoma, non-human animal		Hereditary nonpolyposis colonic adenocarcinoma in Rhesus monkey due to a variation in the MLH1 gene.
http://purl.obolibrary.org/obo/MONDO_1011021	spinocerebellar ataxia, CAPN1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Hereditary late onset progressive symmetric ataxia, truncal sway, pelvic limb hypermetria, and impaired balance in dogs due to a variation in the CAPN1 gene.
http://purl.obolibrary.org/obo/MONDO_1011027	sensory neuropathy, RETREG1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011007	peripheral neuropathy, dog		Hereditary neurodegenerative disease affecting peripheral sensory and autonomic neurons in dogs due to a variation in the RETREG1 gene.
http://purl.obolibrary.org/obo/MONDO_1011032	hereditary sensory and autonomic neuropathy, SCN9A-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Congenital insensitivity to pain (CIP) in dogs due to a variation in the SCN9A gene.
http://purl.obolibrary.org/obo/MONDO_1011033	coat color dilution, MLPH-related, dog	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Hereditary predisposition to color dilution alopecia in dogs due to a variation in the MLPH gene.
http://purl.obolibrary.org/obo/MONDO_1011041	oculocutaneous albinism, OCA2-related, Mexican tetra	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Hereditary lack of melanin pigmentation in Mexican tetra due to a variation in the OCA2 gene.
http://purl.obolibrary.org/obo/MONDO_1011042	oculocutaneous albinism, OCA2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Hereditary lightly pigmented coat, lips and nose and blue eyes in dogs due to a variation in the OCA2 gene.
http://purl.obolibrary.org/obo/MONDO_1012575	X-linked disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		X-linked disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012576	hypohidrotic ectodermal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Hypohidrotic ectodermal dysplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		A group of inherited disorders of melanin synthesis, characterized by hypopigmentation of skin, hair and eyes.
http://purl.obolibrary.org/obo/MONDO_1030008	mitral valve insufficiency	http://purl.obolibrary.org/obo/MONDO_0003767	mitral valve disorder		A mitral valve disorder characterized by incomplete valve closure.
http://purl.obolibrary.org/obo/MONDO_0700278	POLR1C-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Disorder in which the cause of disease is a variation in the POLR1C gene.
http://purl.obolibrary.org/obo/MONDO_1040043	BBS1-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the BBS1 gene.
http://purl.obolibrary.org/obo/MONDO_1040050	MKKS-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the MKKS gene.
http://purl.obolibrary.org/obo/MONDO_1010096	clinically amyopathic dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		A dermatomyositis with cutaneous features but no skeletal muscle weakness.
http://purl.obolibrary.org/obo/MONDO_0700279	spastic triplegia	http://purl.obolibrary.org/obo/MONDO_0000396	spastic cerebral palsy		A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face.
http://purl.obolibrary.org/obo/MONDO_0700280	post-treatment Lyme disease syndrome	http://purl.obolibrary.org/obo/MONDO_0021673	post-bacterial disorder		A disorder caused by the infection in Lyme disease and manifesting after the original infection.
http://purl.obolibrary.org/obo/MONDO_0700281	MYH10-related neurodevelopmental disorder with congenital anomalies	http://purl.obolibrary.org/obo/MONDO_0100465	complex neurodevelopmental disorder with or without congenital anomalies		An autosomal dominant complex neurodevelopmental disorder in which the cause of the disease is a mutation in the MYH10 gene.
http://purl.obolibrary.org/obo/MONDO_0700283	ataxic diplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0000400	mixed cerebral palsy		A mixed cerebral palsy that is characterized by pathogenetic and clinical presentations of both ataxic cerebral palsy and spastic diplegia. In ataxic diplegic children, all extremities are neurologically affected. There is more voluntary control in the upper extremities, spasticity and stiffness in the lower extremities that affect children’s ability to roll, sit, stand, and ambulate; as well as signs and symptoms of loss of balance and coordination.
http://purl.obolibrary.org/obo/MONDO_0971031	auto-brewery syndrome	http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease		An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication.
http://purl.obolibrary.org/obo/MONDO_0971032	bladder fermentation syndrome	http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease		An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication.
http://purl.obolibrary.org/obo/MONDO_0971033	intrathyroid thymic carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation.
http://purl.obolibrary.org/obo/MONDO_0971034	thyroid gland cribriform morular carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation.
http://purl.obolibrary.org/obo/MONDO_0971035	thyroid gland mixed medullary and follicular cell-derived carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin.
http://purl.obolibrary.org/obo/MONDO_0971036	thyroid gland mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.
http://purl.obolibrary.org/obo/MONDO_1010030	pediatric high-grade glioma	http://purl.obolibrary.org/obo/MONDO_0100342	malignant glioma		A malignant high-grade glioma that occurs during childhood in the central nervous system.
http://purl.obolibrary.org/obo/MONDO_1010064	anti-MDA5 dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		A dermatomyositis characterized by the presence of anti-MDA5 autoantibodies. It is often associated with dermatomyositis rashes, amyopathic or hypomyopathic muscle involvement and interstitial lung disease, frequently as a rapid progressive course and high mortality.
http://purl.obolibrary.org/obo/MONDO_1010065	anti-Mi2 dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		A dermatomyositis characterized by the presence of anti-Mi2 autoantibodies.
http://purl.obolibrary.org/obo/MONDO_1010084	anti-NXP2 dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		A dermatomyositis characterized by the presence of anti-NXP2 autoantibodies.
http://purl.obolibrary.org/obo/MONDO_1010087	anti-TIF1 dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		A dermatomyositis characterized by the presence of anti-TIF1 autoantibodies.
http://purl.obolibrary.org/obo/MONDO_1010088	anti-SAE dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		A dermatomyositis characterized by the presence of anti-SAE autoantibodies.
http://purl.obolibrary.org/obo/MONDO_1010089	hypomyopathic dermatomyositis	http://purl.obolibrary.org/obo/MONDO_1010096	clinically amyopathic dermatomyositis		A clinically amyopathic dermatomyositis with no subjective symptoms of skeletal muscle weakness but objective findings of muscle involvement (elevated aldolase level).
http://purl.obolibrary.org/obo/MONDO_1010672	Bernard-Soulier syndrome, GP9-related, dog	http://purl.obolibrary.org/obo/MONDO_1012273	thrombopathia, dog		Hereditary macrothrombocytes and mild-to-moderate thrombocytopenia with a bleeding tendency in dogs due to a variation in the GP9 gene.
http://purl.obolibrary.org/obo/MONDO_1010698	glycogen storage disease, G6PC1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in dogs due to a mutation in the G6PC1 gene.
http://purl.obolibrary.org/obo/MONDO_1010699	glycogen storage disease, PFKM-related, dog	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in sheep due to a mutation in the PFKM gene.
http://purl.obolibrary.org/obo/MONDO_1010703	glycogen storage disease, PYGM-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in cattle due to a mutation in the PYGM gene.
http://purl.obolibrary.org/obo/MONDO_1010704	glycogen storage disease, PYGM-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in sheep due to a mutation in the PYGM gene.
http://purl.obolibrary.org/obo/MONDO_1010717	glycogen storage disease, AGL-related, dog	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in dogs due to a mutation in the AGL gene.
http://purl.obolibrary.org/obo/MONDO_1010720	tyrosinemia type 1, FAH-related, pig	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Any deficiency in fumarylacetoacetate hydrolase that occurs in pigs due to a mutation in the FAH gene created by genetic engineering or gene editing. Fumarylacetoacetate hydrolase is an enzyme that catalyzes the last step of tyrosine metabolism.
http://purl.obolibrary.org/obo/MONDO_1010721	tyrosinemia type 1, FAH-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Any deficiency in fumarylacetoacetate hydrolase that occurs in rabbits due to a mutation in the FAH gene created by genetic engineering or gene editing. Fumarylacetoacetate hydrolase is an enzyme that catalyzes the last step of tyrosine metabolism.
http://purl.obolibrary.org/obo/MONDO_1010727	leukocyte adhesion deficiency, ITGB2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012580	leukocyte adhesion deficiency, non-human animal		Any leukocyte adhesion deficiency that occurs in dogs due to a mutation in the ITGB2 gene.
http://purl.obolibrary.org/obo/MONDO_1010728	leukocyte adhesion deficiency, ITGB2-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012580	leukocyte adhesion deficiency, non-human animal		Any leukocyte adhesion deficiency that occurs in cats due to a mutation in the ITGB2 gene.
http://purl.obolibrary.org/obo/MONDO_1010729	leukocyte adhesion deficiency, ITGB2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012580	leukocyte adhesion deficiency, non-human animal		Any leukocyte adhesion deficiency that occurs in cattle due to a mutation in the ITGB2 gene.
http://purl.obolibrary.org/obo/MONDO_1010736	leukocyte adhesion deficiency, FERMT3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012580	leukocyte adhesion deficiency, non-human animal		Any leukocyte adhesion deficiency that occurs in dogs due to a mutation in the FERMT3 gene.
http://purl.obolibrary.org/obo/MONDO_1010790	focal nonepidermolytic palmoplantar keratoderma, KRT16-related, dog	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any painful thickening of the footpads with severe keratinous proliferations and fissures that occurs in dogs due to a mutation in the KRT16 gene.
http://purl.obolibrary.org/obo/MONDO_1012580	leukocyte adhesion deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Leukocyte adhesion deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0800492	variable-age onset focal epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100619	variable age epilepsy syndrome		An epilepsy syndrome characterized by focal seizures where age at seizure onset varies.
http://purl.obolibrary.org/obo/MONDO_0800487	variable-age onset idiopathic generalized epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100619	variable age epilepsy syndrome		Any idiopathic generalized epilepsy syndrome that has a variable-age onset.
http://purl.obolibrary.org/obo/MONDO_0800490	neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100022	neonatal/infantile epilepsy syndrome		A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments.
http://purl.obolibrary.org/obo/MONDO_1012983	neuromuscular disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Neuromuscular disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012946	skeletal dysplasia, PCYT1A-related, dog	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Any skeletal dysplasia that occurs in dogs due to a mutation in the PCYT1A gene.
http://purl.obolibrary.org/obo/MONDO_1012961	cancer, TP53-related, dog	http://purl.obolibrary.org/obo/MONDO_1012570	cancer, dog		Any cancer that occurs in dogs due to a somatic mutation in the TP53 gene.
http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Parkinson disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Autoimmune disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012987	demyelinating disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Demyelinating disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/HP_0025798	Abnormal wrist morphology	http://purl.obolibrary.org/obo/HP_0003019	Abnormality of the wrist		Any structural anomaly of the wrist.
http://purl.obolibrary.org/obo/MONDO_0700344	CEP164-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Any ciliopathy caused by variants in the CEP164 gene. This disease is characterized by a broad range of phenotypes including various combinations of nephronophthisis, respiratory system impact, retinal degeneration, developmental delay, CNS malformations, polydactyly, bronchiectasis and obesity.
http://purl.obolibrary.org/obo/CHEBI_746933	globular protein	http://purl.obolibrary.org/obo/CHEBI_36080	protein		Protein characterized by a compact, spherical shape and generally soluble in water
http://purl.obolibrary.org/obo/CHEBI_747325	additive	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		a role for a chemical additive to a mixture
http://purl.obolibrary.org/obo/CHEBI_747332	filler	http://purl.obolibrary.org/obo/CHEBI_747325	additive		an additive that adds mass to a substance
http://purl.obolibrary.org/obo/CHEBI_16004	(R)-lactate	http://purl.obolibrary.org/obo/CHEBI_24996	lactate		An optically active form of lactate having (<i>R</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_16651	(S)-lactate	http://purl.obolibrary.org/obo/CHEBI_24996	lactate		An optically active form of lactate having (<i>S</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_16914	salicylic acid	http://purl.obolibrary.org/obo/CHEBI_25389	monohydroxybenzoic acid		A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the <em>ortho</em> position. It is obtained from the bark of the white willow and wintergreen leaves.
http://purl.obolibrary.org/obo/CHEBI_17375	(2S)-2-hydroxy monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_49302	2-hydroxy monocarboxylic acid		A 2-hydroxy monocarboxylic acid in which the carbon at position 2 has (<i>S</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_17893	(2R)-2-hydroxy monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_49302	2-hydroxy monocarboxylic acid		A 2-hydroxy monocarboxylic acid having (2<i>R</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_27300	vitamin D	http://purl.obolibrary.org/obo/CHEBI_36853	hydroxy seco-steroid		Any member of a group of fat-soluble hydroxy seco-steroids that exhibit biological activity against vitamin D deficiency. Vitamin D  can be obtained from sun exposure, food and supplements and is biologically inactive and converted into the biologically active calcitriol via double hydroxylation in the body.
http://purl.obolibrary.org/obo/CHEBI_35757	monocarboxylic acid anion	http://purl.obolibrary.org/obo/CHEBI_29067	carboxylic acid anion		A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated.
http://purl.obolibrary.org/obo/CHEBI_36059	hydroxy monocarboxylic acid anion	http://purl.obolibrary.org/obo/CHEBI_35757	monocarboxylic acid anion		Any monocarboxylic acid anion carrying at least one hydroxy substituent.
http://purl.obolibrary.org/obo/CHEBI_36699	corticosteroid hormone	http://purl.obolibrary.org/obo/CHEBI_50858	corticosteroid		Any of a class of steroid hormones that are produced in the adrenal cortex.
http://purl.obolibrary.org/obo/CHEBI_36834	3-hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_35350	hydroxy steroid		Any hydroxy steroid carrying a hydroxy group at position 3.
http://purl.obolibrary.org/obo/CHEBI_38338	aminopyrimidine	http://purl.obolibrary.org/obo/CHEBI_39447	pyrimidines		A member of the class of  pyrimidines that is pyrimidine substituted by at least one amino group and its derivatives.
http://purl.obolibrary.org/obo/CHEBI_50113	androgen	http://purl.obolibrary.org/obo/CHEBI_50112	sex hormone		A sex hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors.
http://purl.obolibrary.org/obo/CHEBI_50114	estrogen	http://purl.obolibrary.org/obo/CHEBI_50112	sex hormone		A hormone that stimulates or controls the development and maintenance of female sex characteristics in mammals by binding to oestrogen receptors. The oestrogens are named for their importance in the oestrous cycle. The oestrogens that occur naturally in the body, notably estrone, estradiol, estriol, and estetrol are steroids. Other compounds with oestrogenic activity are produced by plants (phytoestrogens) and fungi (mycoestrogens); synthetic compounds with oestrogenic activity are known as xenoestrogens.
http://purl.obolibrary.org/obo/CHEBI_50523	butenolide	http://purl.obolibrary.org/obo/CHEBI_37581	gamma-lactone		A γ-lactone that consists of a 2-furanone skeleton and its substituted derivatives.
http://purl.obolibrary.org/obo/CHEBI_51270	tetracenes	http://purl.obolibrary.org/obo/CHEBI_51269	acenes		Compounds containing a tetracene skeleton.
http://purl.obolibrary.org/obo/CHEBI_58314	(2R)-2-hydroxy monocarboxylic acid anion	http://purl.obolibrary.org/obo/CHEBI_36059	hydroxy monocarboxylic acid anion		A hydroxy monocarboxylic acid anion where the hydroxy group is placed at position 2 (α to the carboxy group) and has (<i>R</i>)-stereochemistry; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_58945	organophosphate oxoanion	http://purl.obolibrary.org/obo/CHEBI_26079	phosphoric acid derivative		An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated.
http://purl.obolibrary.org/obo/CHEBI_62761	tyrosine derivative	http://purl.obolibrary.org/obo/CHEBI_83821	amino-acid derivative		An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues.
http://purl.obolibrary.org/obo/CHEBI_64708	one-carbon compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		An organic molecular entity containing a single carbon atom (C<small><sub>1</sub></small>).
http://purl.obolibrary.org/obo/CHEBI_75772	Saccharomyces cerevisiae metabolite	http://purl.obolibrary.org/obo/CHEBI_76946	fungal metabolite		Any  fungal metabolite produced during a metabolic reaction in Baker's yeast (<em>Saccharomyces cerevisiae </em>).
http://purl.obolibrary.org/obo/CHEBI_84143	D-phenylalanine derivative	http://purl.obolibrary.org/obo/CHEBI_25985	phenylalanine derivative		A non-proteinogenic amino acid derivative resulting from reaction of <small>D</small>-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of <small>D</small>-phenylalanine by a heteroatom.
http://purl.obolibrary.org/obo/CHEBI_85234	human blood serum metabolite	http://purl.obolibrary.org/obo/CHEBI_77746	human metabolite		Any metabolite (endogenous or exogenous) found in human blood serum samples.
http://purl.obolibrary.org/obo/CHEBI_17602	4-aminophenol	http://purl.obolibrary.org/obo/CHEBI_28829	aminophenol		An amino phenol (one of the three possible isomers) which has the single amino substituent located <em>para</em> to the phenolic -OH group.
http://purl.obolibrary.org/obo/CHEBI_22478	amino alcohol	http://purl.obolibrary.org/obo/CHEBI_30879	alcohol		An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group.
http://purl.obolibrary.org/obo/CHEBI_38867	anaesthetic	http://purl.obolibrary.org/obo/CHEBI_23888	drug		Substance which produces loss of feeling or sensation.
http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.
http://purl.obolibrary.org/obo/CHEBI_60809	adjuvant	http://purl.obolibrary.org/obo/CHEBI_52217	pharmaceutical		Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself.
http://purl.obolibrary.org/obo/CHEBI_76206	xenobiotic metabolite	http://purl.obolibrary.org/obo/CHEBI_25212	metabolite		Any metabolite produced by metabolism of a xenobiotic compound.
http://purl.obolibrary.org/obo/CHEBI_133291	saturated dicarboxylic acid dianion(2-)	http://purl.obolibrary.org/obo/CHEBI_28965	dicarboxylic acid dianion		A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid that contains no carbon-carbon double bonds.
http://purl.obolibrary.org/obo/CHEBI_134179	volatile organic compound	http://purl.obolibrary.org/obo/CHEBI_72695	organic molecule		Any organic compound having an initial boiling point less than or equal to 250 °C (482 °F) measured at a standard atmospheric pressure of 101.3 kPa.
http://purl.obolibrary.org/obo/CHEBI_13719	acetylsalicylate	http://purl.obolibrary.org/obo/CHEBI_22718	benzoates		A benzoate that is the conjugate base of acetylsalicylic acid, arising from deprotonation of the carboxy group.
http://purl.obolibrary.org/obo/CHEBI_13850	apoprotein	http://purl.obolibrary.org/obo/CHEBI_38560	simple protein		An apoprotein is a protein devoid of its characteristic prosthetic group or metal.
http://purl.obolibrary.org/obo/CHEBI_14321	glutamate(1-)	http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion		An α-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group
http://purl.obolibrary.org/obo/CHEBI_15022	electron donor	http://purl.obolibrary.org/obo/CHEBI_17891	donor		A molecular entity that can transfer an electron to another molecular entity.
http://purl.obolibrary.org/obo/CHEBI_15339	acceptor	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity.
http://purl.obolibrary.org/obo/CHEBI_15354	choline	http://purl.obolibrary.org/obo/CHEBI_23217	cholines		A choline that is the parent compound of the cholines class, consisting of ethanolamine having three methyl substituents attached to the amino function.
http://purl.obolibrary.org/obo/CHEBI_15365	acetylsalicylic acid	http://purl.obolibrary.org/obo/CHEBI_140310	phenyl acetates		A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity.
http://purl.obolibrary.org/obo/CHEBI_15693	aldose	http://purl.obolibrary.org/obo/CHEBI_35381	monosaccharide		Aldehydic parent sugars (polyhydroxy aldehydes H[CH(OH)]<small><sub><em>n</em></sub></small>C(=O)H, <em>n</em> ≥ 2) and their intramolecular hemiacetals.
http://purl.obolibrary.org/obo/CHEBI_15740	formate	http://purl.obolibrary.org/obo/CHEBI_35757	monocarboxylic acid anion		A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects.
http://purl.obolibrary.org/obo/CHEBI_15792	malonate(2-)	http://purl.obolibrary.org/obo/CHEBI_133291	saturated dicarboxylic acid dianion(2-)		A dicarboxylic acid dianion obtained by the deprotonation of the carboxy groups of malonic acid.
http://purl.obolibrary.org/obo/CHEBI_15956	biotin	http://purl.obolibrary.org/obo/CHEBI_51570	biotins		An organic heterobicyclic compound that consists of 2-oxohexahydro-1<em>H</em>-thieno[3,4-<em>d</em>]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins.
http://purl.obolibrary.org/obo/CHEBI_16042	halide anion	http://purl.obolibrary.org/obo/CHEBI_79389	monovalent inorganic anion		A monoatomic monoanion resulting from the addition of an electron to any halogen atom.
http://purl.obolibrary.org/obo/CHEBI_16134	ammonia	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms.
http://purl.obolibrary.org/obo/CHEBI_16137	chondroitin D-glucuronate	http://purl.obolibrary.org/obo/CHEBI_37395	mucopolysaccharide		A mucopolysaccharide composed of repeating β-<small>D</small>-glucopyranuronosyl-(1→3)-β-D-<em>N</em>-acetylgalactosaminyl units.
http://purl.obolibrary.org/obo/CHEBI_16189	sulfate	http://purl.obolibrary.org/obo/CHEBI_33482	sulfur oxoanion		A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid.
http://purl.obolibrary.org/obo/CHEBI_16199	urea	http://purl.obolibrary.org/obo/CHEBI_29347	monocarboxylic acid amide		A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O).
http://purl.obolibrary.org/obo/CHEBI_16247	phospholipid	http://purl.obolibrary.org/obo/CHEBI_37734	phosphoric ester		A lipid containing phosphoric acid as a mono- or di-ester. The term encompasses phosphatidic acids and phosphoglycerides.
http://purl.obolibrary.org/obo/CHEBI_16277	haloacetic acid	http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid		A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom.
http://purl.obolibrary.org/obo/CHEBI_16393	sphingosine	http://purl.obolibrary.org/obo/CHEBI_26743	sphing-4-enine		A sphing-4-enine in which the double bond is <i>trans</i>.
http://purl.obolibrary.org/obo/CHEBI_16646	carbohydrate	http://purl.obolibrary.org/obo/CHEBI_78616	carbohydrates and carbohydrate derivatives		Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula C<small><sub><em>m</em></sub></small>(H<small><sub>2</sub></small>O)<small><sub><em>n</em></sub></small>. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates.
http://purl.obolibrary.org/obo/CHEBI_16709	pyridoxine	http://purl.obolibrary.org/obo/CHEBI_38196	hydroxymethylpyridine		A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B<small><sub>6</sub></small>, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid.
http://purl.obolibrary.org/obo/CHEBI_16716	benzene	http://purl.obolibrary.org/obo/CHEBI_33842	aromatic annulene		A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised π system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.
http://purl.obolibrary.org/obo/CHEBI_16827	corticosterone	http://purl.obolibrary.org/obo/CHEBI_139590	primary alpha-hydroxy ketone		A 21-hydroxy steroid that consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands.
http://purl.obolibrary.org/obo/CHEBI_16842	formaldehyde	http://purl.obolibrary.org/obo/CHEBI_17478	aldehyde		An aldehyde resulting from the formal oxidation of methanol.
http://purl.obolibrary.org/obo/CHEBI_16874	psychosine	http://purl.obolibrary.org/obo/CHEBI_36527	glycosylsphingoid		A glycosylsphingoid consisting of sphingosine having a β-<small>D</small>-galactosyl residue attached at the 1-position.
http://purl.obolibrary.org/obo/CHEBI_16990	bilirubin IXalpha	http://purl.obolibrary.org/obo/CHEBI_35692	dicarboxylic acid		A member of the class of  biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin.
http://purl.obolibrary.org/obo/CHEBI_17015	riboflavin	http://purl.obolibrary.org/obo/CHEBI_30527	flavin		<small>D</small>-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[<em>g</em>]pteridin-10(2<em>H</em>)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide.
http://purl.obolibrary.org/obo/CHEBI_17089	glycoprotein	http://purl.obolibrary.org/obo/CHEBI_33837	conjugated protein		A compound in which a carbohydrate component is covalently bound to a protein component.
http://purl.obolibrary.org/obo/CHEBI_17234	glucose	http://purl.obolibrary.org/obo/CHEBI_33917	aldohexose		An aldohexose used as a source of energy and metabolic intermediate.
http://purl.obolibrary.org/obo/CHEBI_17359	sulfite	http://purl.obolibrary.org/obo/CHEBI_33482	sulfur oxoanion		A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H<small><sub>2</sub></small>SO<small><sub>3</sub></small>).
http://purl.obolibrary.org/obo/CHEBI_17453	methylmalonate(2-)	http://purl.obolibrary.org/obo/CHEBI_61336	C4-dicarboxylate		A C<small><sub>4</sub></small>-dicarboxylate resulting from the removal of a proton from both carboxylic acid groups of methylmalonic acid.
http://purl.obolibrary.org/obo/CHEBI_17485	homocystine	http://purl.obolibrary.org/obo/CHEBI_24612	homocystines		An organic disulfide obtained by oxidative dimerisation of homocysteine.
http://purl.obolibrary.org/obo/CHEBI_17514	cyanide	http://purl.obolibrary.org/obo/CHEBI_36828	pseudohalide anion		A pseudohalide anion that is the conjugate base of hydrogen cyanide.
http://purl.obolibrary.org/obo/CHEBI_17544	hydrogencarbonate	http://purl.obolibrary.org/obo/CHEBI_35604	carbon oxoanion		The carbon oxoanion resulting from the removal of a proton from carbonic acid.
http://purl.obolibrary.org/obo/CHEBI_17578	toluene	http://purl.obolibrary.org/obo/CHEBI_38975	methylbenzene		The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent.
http://purl.obolibrary.org/obo/CHEBI_17781	lumichrome	http://purl.obolibrary.org/obo/CHEBI_37324	7,8-dimethylbenzo[g]pteridine-2,4-dione		A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution.
http://purl.obolibrary.org/obo/CHEBI_17790	methanol	http://purl.obolibrary.org/obo/CHEBI_15734	primary alcohol		The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group.
http://purl.obolibrary.org/obo/CHEBI_17792	organohalogen compound	http://purl.obolibrary.org/obo/CHEBI_37578	halide		A compound containing at least one carbon-halogen bond (where X is a halogen atom).
http://purl.obolibrary.org/obo/CHEBI_17883	hydrogen chloride	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms.
http://purl.obolibrary.org/obo/CHEBI_17891	donor	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity.
http://purl.obolibrary.org/obo/CHEBI_17997	dinitrogen	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		An elemental molecule consisting of two trivalently-bonded nitrogen atoms.
http://purl.obolibrary.org/obo/CHEBI_18049	piperidine	http://purl.obolibrary.org/obo/CHEBI_32863	secondary amine		An azacycloalkane that is cyclohexane in which one of the carbons is replaced by a nitrogen. It is a metabolite of cadaverine, a polyamine found in the human intestine.
http://purl.obolibrary.org/obo/CHEBI_18085	glycosaminoglycan	http://purl.obolibrary.org/obo/CHEBI_22506	aminoglycan		Any polysaccharide containing a substantial proportion of aminomonosaccharide residues.
http://purl.obolibrary.org/obo/CHEBI_18154	polysaccharide	http://purl.obolibrary.org/obo/CHEBI_167559	glycan		A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues.
http://purl.obolibrary.org/obo/CHEBI_18186	tyrosine	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		An α-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring.
http://purl.obolibrary.org/obo/CHEBI_18237	glutamic acid	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		An α-amino acid that is glutaric acid bearing a single amino substituent at position 2.
http://purl.obolibrary.org/obo/CHEBI_18248	iron atom	http://purl.obolibrary.org/obo/CHEBI_33356	iron group element atom		An iron group element atom that has atomic number 26.
http://purl.obolibrary.org/obo/CHEBI_18367	phosphate(3-)	http://purl.obolibrary.org/obo/CHEBI_35780	phosphate ion		A phosphate ion that is the conjugate base of hydrogenphosphate.
http://purl.obolibrary.org/obo/CHEBI_18405	pyridoxal 5'-phosphate	http://purl.obolibrary.org/obo/CHEBI_38187	pyridinecarbaldehyde		The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal.
http://purl.obolibrary.org/obo/CHEBI_18407	hydrogen cyanide	http://purl.obolibrary.org/obo/CHEBI_33405	hydracid		A one-carbon compound consisting of a methine group triple bonded to a nitrogen atom
http://purl.obolibrary.org/obo/CHEBI_22718	benzoates	http://purl.obolibrary.org/obo/CHEBI_91007	aromatic carboxylate		A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid.
http://purl.obolibrary.org/obo/CHEBI_23217	cholines	http://purl.obolibrary.org/obo/CHEBI_35267	quaternary ammonium ion		A quaternary ammonium ion based on the choline ion and its substituted derivatives thereof.
http://purl.obolibrary.org/obo/CHEBI_23888	drug	http://purl.obolibrary.org/obo/CHEBI_52217	pharmaceutical		Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.
http://purl.obolibrary.org/obo/CHEBI_23924	enzyme inhibitor	http://purl.obolibrary.org/obo/CHEBI_52206	biochemical role		A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.
http://purl.obolibrary.org/obo/CHEBI_24433	group	http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity		A defined linked collection of atoms or a single atom within a molecular entity.
http://purl.obolibrary.org/obo/CHEBI_24621	hormone	http://purl.obolibrary.org/obo/CHEBI_33280	molecular messenger		Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds.
http://purl.obolibrary.org/obo/CHEBI_24662	hydroxy-amino acid	http://purl.obolibrary.org/obo/CHEBI_83925	non-proteinogenic alpha-amino acid		A non-proteinogenic α-amino acid bearing one or more hydroxy groups at unspecified positions.
http://purl.obolibrary.org/obo/CHEBI_24913	isoprenoid	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives.
http://purl.obolibrary.org/obo/CHEBI_25017	leucine	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the α-carbon is substituted by an isobutyl group.
http://purl.obolibrary.org/obo/CHEBI_25362	elemental molecule	http://purl.obolibrary.org/obo/CHEBI_33259	elemental molecular entity		A molecule all atoms of which have the same atomic number.
http://purl.obolibrary.org/obo/CHEBI_25389	monohydroxybenzoic acid	http://purl.obolibrary.org/obo/CHEBI_24676	hydroxybenzoic acid		Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring.
http://purl.obolibrary.org/obo/CHEBI_25442	mycotoxin	http://purl.obolibrary.org/obo/CHEBI_76946	fungal metabolite		Poisonous substance produced by fungi.
http://purl.obolibrary.org/obo/CHEBI_25704	organic sulfate	http://purl.obolibrary.org/obo/CHEBI_37826	sulfuric acid derivative		Compounds of the general formula SO3HOR where R is an organyl group
http://purl.obolibrary.org/obo/CHEBI_25905	peptide hormone	http://purl.obolibrary.org/obo/CHEBI_16670	peptide		Any peptide with hormonal activity in animals, whether endocrine, neuroendocrine, or paracrine.
http://purl.obolibrary.org/obo/CHEBI_26188	polyketide	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		Natural and synthetic compounds containing alternating carbonyl and methylene groups ('β-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides.
http://purl.obolibrary.org/obo/CHEBI_26348	prosthetic group	http://purl.obolibrary.org/obo/CHEBI_23357	cofactor		A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity.
http://purl.obolibrary.org/obo/CHEBI_26536	retinoic acid	http://purl.obolibrary.org/obo/CHEBI_26537	retinoid		A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).
http://purl.obolibrary.org/obo/CHEBI_26606	sapogenin	http://purl.obolibrary.org/obo/CHEBI_51958	organic polycyclic compound		Any organic polycyclic compound that is the aglycon moiety of a saponin; sapogenins may be steroids or triterpenoids.
http://purl.obolibrary.org/obo/CHEBI_26666	short-chain fatty acid	http://purl.obolibrary.org/obo/CHEBI_35366	fatty acid		An aliphatic monocarboxylic acid with a chain length of less than C<small><sub>6</sub></small>. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid.
http://purl.obolibrary.org/obo/CHEBI_26819	sulfuric ester	http://purl.obolibrary.org/obo/CHEBI_37826	sulfuric acid derivative		An ester of an alcohol and sulfuric acid.
http://purl.obolibrary.org/obo/CHEBI_27027	micronutrient	http://purl.obolibrary.org/obo/CHEBI_33284	nutrient		Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions.
http://purl.obolibrary.org/obo/CHEBI_27207	univalent carboacyl group	http://purl.obolibrary.org/obo/CHEBI_37838	carboacyl group		A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid.
http://purl.obolibrary.org/obo/CHEBI_27902	tetracycline	http://purl.obolibrary.org/obo/CHEBI_139592	tertiary alpha-hydroxy ketone		A broad-spectrum polyketide antibiotic produced by the <em>Streptomyces genus</em> of actinobacteria.
http://purl.obolibrary.org/obo/CHEBI_28358	rac-lactic acid	http://purl.obolibrary.org/obo/CHEBI_60911	racemate		A racemate comprising equimolar amounts of (<i>R</i>)- and (<i>S</i>)-lactic acid.
http://purl.obolibrary.org/obo/CHEBI_28616	carbamic acid	http://purl.obolibrary.org/obo/CHEBI_35605	carbon oxoacid		A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised.
http://purl.obolibrary.org/obo/CHEBI_28868	fatty acid anion	http://purl.obolibrary.org/obo/CHEBI_35757	monocarboxylic acid anion		The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid.
http://purl.obolibrary.org/obo/CHEBI_29745	barbiturate	http://purl.obolibrary.org/obo/CHEBI_22691	barbiturate anion		Conjugate base of barbituric acid.
http://purl.obolibrary.org/obo/CHEBI_29987	glutamate(2-)	http://purl.obolibrary.org/obo/CHEBI_28965	dicarboxylic acid dianion		A dicarboxylic acid dianion that is the conjugate base of glutamate(1−).
http://purl.obolibrary.org/obo/CHEBI_30746	benzoic acid	http://purl.obolibrary.org/obo/CHEBI_22723	benzoic acids		A compound comprising a benzene ring core carrying a carboxylic acid substituent.
http://purl.obolibrary.org/obo/CHEBI_30762	salicylate	http://purl.obolibrary.org/obo/CHEBI_25388	monohydroxybenzoate		A monohydroxybenzoate that is the conjugate base of salicylic acid.
http://purl.obolibrary.org/obo/CHEBI_30768	propionic acid	http://purl.obolibrary.org/obo/CHEBI_26666	short-chain fatty acid		A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group.
http://purl.obolibrary.org/obo/CHEBI_30794	malonic acid	http://purl.obolibrary.org/obo/CHEBI_28383	alpha,omega-dicarboxylic acid		An α,ω-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group.
http://purl.obolibrary.org/obo/CHEBI_30879	alcohol	http://purl.obolibrary.org/obo/CHEBI_33822	organic hydroxy compound		A compound in which a hydroxy group, ‒OH, is attached to a saturated carbon atom.
http://purl.obolibrary.org/obo/CHEBI_32600	tetracene	http://purl.obolibrary.org/obo/CHEBI_35297	acene		An acene that consists of four <em>ortho</em>-fused benzene rings in a rectilinear arrangement.
http://purl.obolibrary.org/obo/CHEBI_33249	organyl group	http://purl.obolibrary.org/obo/CHEBI_51447	organic univalent group		Any organic substituent group, regardless of functional type, having one free valence at a carbon atom.
http://purl.obolibrary.org/obo/CHEBI_33252	atomic nucleus	http://purl.obolibrary.org/obo/CHEBI_36347	nuclear particle		A nucleus is the positively charged central portion of an atom, excluding the orbital electrons.
http://purl.obolibrary.org/obo/CHEBI_33284	nutrient	http://purl.obolibrary.org/obo/CHEBI_78295	food component		A nutrient is a food component that an organism uses to survive and grow.
http://purl.obolibrary.org/obo/CHEBI_33709	amino acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		A carboxylic acid containing one or more amino groups.
http://purl.obolibrary.org/obo/CHEBI_35107	azane	http://purl.obolibrary.org/obo/CHEBI_35106	nitrogen hydride		Saturated acyclic nitrogen hydrides having the general formula N<small><sub><em>n</em></sub></small>H<small><sub><em>n</em>+2</sub></small>.
http://purl.obolibrary.org/obo/CHEBI_35190	diterpene	http://purl.obolibrary.org/obo/CHEBI_35186	terpene		A C<small><sub>20</sub></small> terpene.
http://purl.obolibrary.org/obo/CHEBI_35267	quaternary ammonium ion	http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative		A derivative of ammonium, NH<small><sub>4</sub></small><small><sup>+</small></sup>, in which all four of the hydrogens bonded to nitrogen have been replaced with univalent (usually organyl) groups.
http://purl.obolibrary.org/obo/CHEBI_35346	11beta-hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_36841	11-hydroxy steroid		Any 11-hydroxy steroid in which the hydroxy group at position 11 has β- configuration.
http://purl.obolibrary.org/obo/CHEBI_35481	non-narcotic analgesic	http://purl.obolibrary.org/obo/CHEBI_35480	analgesic		A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors.
http://purl.obolibrary.org/obo/CHEBI_35524	sympathomimetic agent	http://purl.obolibrary.org/obo/CHEBI_37962	adrenergic agent		A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters.
http://purl.obolibrary.org/obo/CHEBI_35554	cardiovascular drug	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume.
http://purl.obolibrary.org/obo/CHEBI_35695	dicarboxylic acid monoanion	http://purl.obolibrary.org/obo/CHEBI_35693	dicarboxylic acid anion		Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid.
http://purl.obolibrary.org/obo/CHEBI_35820	antiprotozoal drug	http://purl.obolibrary.org/obo/CHEBI_36043	antimicrobial drug		Any antimicrobial drug which is used to treat or prevent protozoal infections.
http://purl.obolibrary.org/obo/CHEBI_36080	protein	http://purl.obolibrary.org/obo/CHEBI_33695	information biomacromolecule		A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome.
http://purl.obolibrary.org/obo/CHEBI_36735	biladienes	http://purl.obolibrary.org/obo/CHEBI_25046	linear tetrapyrrole		Compounds based on a biladiene skeleton.
http://purl.obolibrary.org/obo/CHEBI_36885	20-oxo steroid	http://purl.obolibrary.org/obo/CHEBI_35789	oxo steroid		An oxo steroid carrying an oxo group at position 20.
http://purl.obolibrary.org/obo/CHEBI_37527	acid	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		An acid is a molecular entity capable of donating a hydron (Brønsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid).
http://purl.obolibrary.org/obo/CHEBI_37806	penicillanic acid	http://purl.obolibrary.org/obo/CHEBI_25865	penicillanic acids		A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2<i>S</i>,5<i>R</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_42111	(R)-lactic acid	http://purl.obolibrary.org/obo/CHEBI_78320	2-hydroxypropanoic acid		An optically active form of lactic acid having (<i>R</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_46195	paracetamol	http://purl.obolibrary.org/obo/CHEBI_33853	phenols		A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group.
http://purl.obolibrary.org/obo/CHEBI_47909	3-oxo-Delta(4) steroid	http://purl.obolibrary.org/obo/CHEBI_51689	enone		A 3-oxo steroid conjugated to a C=C double bond at the α,β position.
http://purl.obolibrary.org/obo/CHEBI_48001	protein synthesis inhibitor	http://purl.obolibrary.org/obo/CHEBI_76932	pathway inhibitor		A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein.
http://purl.obolibrary.org/obo/CHEBI_48360	amphiprotic solvent	http://purl.obolibrary.org/obo/CHEBI_48359	protophilic solvent		Self-ionizing solvent possessing both characteristics of Brønsted acids and bases.
http://purl.obolibrary.org/obo/CHEBI_48730	aluminosilicate mineral	http://purl.obolibrary.org/obo/CHEBI_46663	silicate mineral		Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals.
http://purl.obolibrary.org/obo/CHEBI_49023	prostaglandin antagonist	http://purl.obolibrary.org/obo/CHEBI_49020	hormone antagonist		A compound that inhibits the action of prostaglandins.
http://purl.obolibrary.org/obo/CHEBI_50406	probe	http://purl.obolibrary.org/obo/CHEBI_33232	application		A role played by a molecular entity used to study the microscopic environment.
http://purl.obolibrary.org/obo/CHEBI_50630	cyclooxygenase 1 inhibitor	http://purl.obolibrary.org/obo/CHEBI_35544	EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor		A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1.
http://purl.obolibrary.org/obo/CHEBI_50905	teratogenic agent	http://purl.obolibrary.org/obo/CHEBI_52209	aetiopathogenetic role		A role played by a chemical compound  in biological systems with adverse consequences in embryo developments, leading to birth defects, embryo death or altered development, growth retardation and functional defect.
http://purl.obolibrary.org/obo/CHEBI_50910	neurotoxin	http://purl.obolibrary.org/obo/CHEBI_52209	aetiopathogenetic role		A poison that interferes with the functions of the nervous system.
http://purl.obolibrary.org/obo/CHEBI_51086	chemical role	http://purl.obolibrary.org/obo/CHEBI_50906	role		A role played by the molecular entity or part thereof within a chemical context.
http://purl.obolibrary.org/obo/CHEBI_53212	isocyanates	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group ‒N=C=O (as opposed to the cyanate group, -O-C≡N).
http://purl.obolibrary.org/obo/CHEBI_58942	cationic amino-acid residue	http://purl.obolibrary.org/obo/CHEBI_64769	organic cationic group		An amino-acid residue protonated on nitrogen.
http://purl.obolibrary.org/obo/CHEBI_58951	short-chain fatty acid anion	http://purl.obolibrary.org/obo/CHEBI_28868	fatty acid anion		Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C<small><sub>6</sub></small>).
http://purl.obolibrary.org/obo/CHEBI_58958	organosulfate oxoanion	http://purl.obolibrary.org/obo/CHEBI_33482	sulfur oxoanion		An organic anion of general formula RS(=O)2O(−) where R is an organyl group.
http://purl.obolibrary.org/obo/CHEBI_59174	hapten	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals.
http://purl.obolibrary.org/obo/CHEBI_59252	linear tetrapyrrole anion	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		An organic anion arising from deprotonation of a acyclic tetrapyrrole compound.
http://purl.obolibrary.org/obo/CHEBI_59740	nucleophilic reagent	http://purl.obolibrary.org/obo/CHEBI_39144	Lewis base		A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons.
http://purl.obolibrary.org/obo/CHEBI_59814	L-alpha-amino acid anion	http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion		Conjugate base of an <small>L</small>-α-amino acid arising from deprotonation of the C-1 carboxy group.
http://purl.obolibrary.org/obo/CHEBI_59869	L-alpha-amino acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_78608	alpha-amino-acid zwitterion		Zwitterionic form of an <small>L</small>-α-amino acid having an anionic carboxy group and a protonated amino group.
http://purl.obolibrary.org/obo/CHEBI_60242	monovalent inorganic cation	http://purl.obolibrary.org/obo/CHEBI_36915	inorganic cation		An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one.
http://purl.obolibrary.org/obo/CHEBI_60466	peptide zwitterion	http://purl.obolibrary.org/obo/CHEBI_27369	zwitterion		Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged.
http://purl.obolibrary.org/obo/CHEBI_60643	NMDA receptor antagonist	http://purl.obolibrary.org/obo/CHEBI_60798	excitatory amino acid antagonist		Any substance that inhibits the action of <em>N</em>-methyl-<small>D</small>-aspartate (NMDA) receptors. They tend to induce a state known as dissociative anesthesia, marked by catalepsy, amnesia, and analgesia, while side effects can include hallucinations, nightmares, and confusion. Due to their psychotomimetic effects, many NMDA receptor antagonists are used as recreational drugs.
http://purl.obolibrary.org/obo/CHEBI_6121	ketamine	http://purl.obolibrary.org/obo/CHEBI_83403	monochlorobenzenes		A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group.
http://purl.obolibrary.org/obo/CHEBI_61313	C21-steroid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure.
http://purl.obolibrary.org/obo/CHEBI_61336	C4-dicarboxylate	http://purl.obolibrary.org/obo/CHEBI_28965	dicarboxylic acid dianion		A dicarboxylate that contains four carbon atoms.
http://purl.obolibrary.org/obo/CHEBI_62941	glycosylceramide	http://purl.obolibrary.org/obo/CHEBI_17761	ceramide		A ceramide compound formed by the replacement of the glycosidic hydroxy group of a cyclic form of a monosaccharide (or derivative) by a ceramide group.
http://purl.obolibrary.org/obo/CHEBI_63048	1,3-thiazolium cation	http://purl.obolibrary.org/obo/CHEBI_38418	1,3-thiazoles		An organic cation resulting from protonation or quaternisation at the 3-position of any 1,3-thiazole.
http://purl.obolibrary.org/obo/CHEBI_63248	oxidising agent	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		A substance that removes electrons from another reactant in a redox reaction.
http://purl.obolibrary.org/obo/CHEBI_63299	carbohydrate derivative	http://purl.obolibrary.org/obo/CHEBI_78616	carbohydrates and carbohydrate derivatives		Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds.
http://purl.obolibrary.org/obo/CHEBI_64769	organic cationic group	http://purl.obolibrary.org/obo/CHEBI_64766	cationic group		A cationic group that contains carbon.
http://purl.obolibrary.org/obo/CHEBI_64911	antimitotic	http://purl.obolibrary.org/obo/CHEBI_52210	pharmacological role		Any compound that inhibits cell division (mitosis).
http://purl.obolibrary.org/obo/CHEBI_66873	C4-dicarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_35692	dicarboxylic acid		Any dicarboxylic acid that contains four carbon atoms.
http://purl.obolibrary.org/obo/CHEBI_72695	organic molecule	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		Any molecule that consists of at least one carbon atom as part of the electrically neutral entity.
http://purl.obolibrary.org/obo/CHEBI_73182	plant activator	http://purl.obolibrary.org/obo/CHEBI_33286	agrochemical		Any compound that protects plants by activating their defence mechanisms.
http://purl.obolibrary.org/obo/CHEBI_76413	greenhouse gas	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'.
http://purl.obolibrary.org/obo/CHEBI_76807	EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76764	EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor		An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*).
http://purl.obolibrary.org/obo/CHEBI_77425	EC 1.1.1.188 (prostaglandin-F synthase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76835	EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor		An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD<small><sup>+</small></sup> or NADP<small><sup>+</small></sup> acceptor) inhibitor that interferes with the action of prostaglandin-F synthase (EC 1.1.1.188).
http://purl.obolibrary.org/obo/CHEBI_77941	EC 3.5.1.4 (amidase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76807	EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor		An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4).
http://purl.obolibrary.org/obo/CHEBI_77974	food packaging gas	http://purl.obolibrary.org/obo/CHEBI_64047	food additive		A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container.
http://purl.obolibrary.org/obo/CHEBI_78675	fundamental metabolite	http://purl.obolibrary.org/obo/CHEBI_25212	metabolite		Any metabolite produced by all living cells.
http://purl.obolibrary.org/obo/CHEBI_79314	flame retardant	http://purl.obolibrary.org/obo/CHEBI_33232	application		Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire.
http://purl.obolibrary.org/obo/CHEBI_79388	divalent inorganic anion	http://purl.obolibrary.org/obo/CHEBI_24834	inorganic anion		Any inorganic anion with a valency of two.
http://purl.obolibrary.org/obo/CHEBI_83812	non-proteinogenic amino acid derivative	http://purl.obolibrary.org/obo/CHEBI_83821	amino-acid derivative		Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom.
http://purl.obolibrary.org/obo/CHEBI_29340	hydridonitrate(2-)	http://purl.obolibrary.org/obo/CHEBI_35106	nitrogen hydride		A divalent inorganic anion resulting from the removal of two protons from ammonia.
http://purl.obolibrary.org/obo/CHEBI_33246	inorganic group	http://purl.obolibrary.org/obo/CHEBI_24433	group		Any substituent group which does not contain carbon.
http://purl.obolibrary.org/obo/CHEBI_33543	sulfonate	http://purl.obolibrary.org/obo/CHEBI_33482	sulfur oxoanion		The sulfur oxoanion formed by deprotonation of sulfonic acid.
http://purl.obolibrary.org/obo/CHEBI_33658	arene	http://purl.obolibrary.org/obo/CHEBI_33663	cyclic hydrocarbon		Any monocyclic or polycyclic aromatic hydrocarbon.
http://purl.obolibrary.org/obo/CHEBI_33702	polyatomic cation	http://purl.obolibrary.org/obo/CHEBI_36916	cation		A cation consisting of more than one atom.
http://purl.obolibrary.org/obo/CHEBI_34905	paraquat	http://purl.obolibrary.org/obo/CHEBI_25697	organic cation		An organic cation that consists of 4,4'-bipyridine bearing two <em>N</em>-methyl substituents loctated at the 1- and 1'-positions.
http://purl.obolibrary.org/obo/CHEBI_38716	carboxylic acid dianion	http://purl.obolibrary.org/obo/CHEBI_29067	carboxylic acid anion		Any dianion containing at least one carboxy group.
http://purl.obolibrary.org/obo/CHEBI_49020	hormone antagonist	http://purl.obolibrary.org/obo/CHEBI_48706	antagonist		A chemical substance which inhibits the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites.
http://purl.obolibrary.org/obo/CHEBI_50313	onium cation	http://purl.obolibrary.org/obo/CHEBI_50312	onium compound		Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families.
http://purl.obolibrary.org/obo/CHEBI_62031	polar amino acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group.
http://purl.obolibrary.org/obo/CHEBI_4551	digoxin	http://purl.obolibrary.org/obo/CHEBI_61655	steroid saponin		A  cardenolide glycoside that is digitoxin β-hydroxylated at C-12. A cardiac glycoside extracted from the foxglove plant, <em>Digitalis lanata</em>, it is used to control ventricular rate in atrial fibrillation and in the management of congestive heart failure with atrial fibrillation, but the margin between toxic and therapeutic doses is small.
http://purl.obolibrary.org/obo/CHEBI_51374	GABA agent	http://purl.obolibrary.org/obo/CHEBI_35942	neurotransmitter agent		A substance, such as agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function, used for its pharmacological actions on GABAergic systems.
http://purl.obolibrary.org/obo/CHEBI_5931	insulin (human)	http://purl.obolibrary.org/obo/CHEBI_145810	insulin		An insulin that is produced in the pancreas and involved in regulating the metabolism of carbohydrates (particularly glucose) and fats. Commonly thought of as a protein, it consists of two peptide chains, one containing 21 amino acid residues and the other containing 30; the chains are joined together by 2 disulfide bonds. Recombinant insulin is identical to human insulin, but is synthesised by inserting the human insulin gene into <em>E. coli</em>, which then produces insulin for human use. It is used in the treatment of type I and type II diabetes.
http://purl.obolibrary.org/obo/CHEBI_75600	EC 6.3.* (C-N bond-forming ligase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_75603	EC 6.* (ligase) inhibitor		A ligase inhibitor that interferes with the action of a <em>C</em>‒<em>N</em> bond-forming ligase (EC 6.3.*.*).
http://purl.obolibrary.org/obo/CHEBI_76759	EC 3.* (hydrolase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_23924	enzyme inhibitor		Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*).
http://purl.obolibrary.org/obo/CL_0000076	squamous epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		An epithelial cell that has a flattened morphology.
http://purl.obolibrary.org/obo/CL_0000197	sensory receptor cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		A cell that is capable of detection of a stimulus involved in sensory perception.
http://purl.obolibrary.org/obo/CL_0000214	synovial cell	http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell		A cell located in the synovial joint.
http://purl.obolibrary.org/obo/CL_0000239	brush border epithelial cell	http://purl.obolibrary.org/obo/CL_0000075	columnar/cuboidal epithelial cell		An epithelial cell characterized by the presence of a brush border on its apical surface, which increases the surface area for absorption.
http://purl.obolibrary.org/obo/CL_0000500	follicular epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		An epithelial somatic cell associated with a maturing oocyte.
http://purl.obolibrary.org/obo/CL_0000679	glutamatergic neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		A neuron that is capable of some neurotansmission by glutamate secretion.
http://purl.obolibrary.org/obo/CL_0002681	kidney cortical cell	http://purl.obolibrary.org/obo/CL_1000497	kidney cell		A cell that is part of a cortex of kidney.
http://purl.obolibrary.org/obo/CL_0009001	compound eye retinal cell	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		Any cell in the compound eye, a light sensing organ composed of ommatidia.
http://purl.obolibrary.org/obo/CL_0009005	salivary gland cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		Any cell in a salivary gland.
http://purl.obolibrary.org/obo/CL_0010001	stromal cell of bone marrow	http://purl.obolibrary.org/obo/CL_0002092	bone marrow cell		A stromal cell that is part_of a bone marrow.
http://purl.obolibrary.org/obo/CL_0010002	epithelial cell of umbilical artery	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		An epithelial cell that is part_of a umbilical artery.
http://purl.obolibrary.org/obo/CL_0010004	mononuclear cell of bone marrow	http://purl.obolibrary.org/obo/CL_1001610	bone marrow hematopoietic cell		A mononuclear cell that is part_of a bone marrow.
http://purl.obolibrary.org/obo/CL_0012000	astrocyte of the forebrain	http://purl.obolibrary.org/obo/CL_2000005	brain macroglial cell		An astrocyte of the forebrain.
http://purl.obolibrary.org/obo/CL_0012001	neuron of the forebrain	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		A CNS neuron of the forebrain.
http://purl.obolibrary.org/obo/CL_1000497	kidney cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		A cell that is part of a kidney.
http://purl.obolibrary.org/obo/CL_1000500	kidney interstitial cell	http://purl.obolibrary.org/obo/CL_1000497	kidney cell		A cell that is part of kidney interstitium.
http://purl.obolibrary.org/obo/CL_1000505	kidney pelvis cell	http://purl.obolibrary.org/obo/CL_1000497	kidney cell		A cell that is part of a renal pelvis.
http://purl.obolibrary.org/obo/CL_1000507	kidney tubule cell	http://purl.obolibrary.org/obo/CL_1000497	kidney cell		A cell that is part of a nephron tubule.
http://purl.obolibrary.org/obo/CL_1000546	kidney medulla collecting duct epithelial cell	http://purl.obolibrary.org/obo/CL_1000504	kidney medulla cell		An epithelial cell that is part of a renal medulla collecting duct.
http://purl.obolibrary.org/obo/CL_1000547	kidney inner medulla collecting duct epithelial cell	http://purl.obolibrary.org/obo/CL_1000617	kidney inner medulla cell		An epithelial cell that is part of some inner medullary collecting duct.
http://purl.obolibrary.org/obo/CL_1000548	kidney outer medulla collecting duct epithelial cell	http://purl.obolibrary.org/obo/CL_1000616	kidney outer medulla cell		An epithelial cell that is part of an outer medullary collecting duct.
http://purl.obolibrary.org/obo/CL_1000549	kidney cortex collecting duct epithelial cell	http://purl.obolibrary.org/obo/CL_1000454	kidney collecting duct epithelial cell		An epithelial cell that is part of a cortical collecting duct.
http://purl.obolibrary.org/obo/CL_1000892	kidney capillary endothelial cell	http://purl.obolibrary.org/obo/CL_1000854	kidney blood vessel cell		An endothelial cell that is part of the capillary of the kidney.
http://purl.obolibrary.org/obo/CL_1001005	glomerular capillary endothelial cell	http://purl.obolibrary.org/obo/CL_1000892	kidney capillary endothelial cell		An endothelial cell that is part of the glomerular capillary of the kidney.
http://purl.obolibrary.org/obo/CL_1001111	kidney loop of Henle thin descending limb epithelial cell	http://purl.obolibrary.org/obo/CL_1001021	kidney loop of Henle descending limb epithelial cell		An epithelial cell that is part of some loop of Henle thin descending limb.
http://purl.obolibrary.org/obo/CL_1001225	kidney collecting duct cell	http://purl.obolibrary.org/obo/CL_1000497	kidney cell		A cell that is part of a collecting duct of renal tubule.
http://purl.obolibrary.org/obo/CL_1001318	renal interstitial pericyte	http://purl.obolibrary.org/obo/CL_1000500	kidney interstitial cell		A pericyte cell located in the kidney interstitium.
http://purl.obolibrary.org/obo/HP_0000613	Photophobia	http://purl.obolibrary.org/obo/HP_5200058	Sensory hypersensitivity		Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
http://purl.obolibrary.org/obo/HP_0000713	Agitation	http://purl.obolibrary.org/obo/HP_5200263	Abnormally increased volition		A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.
http://purl.obolibrary.org/obo/HP_0000739	Anxiety	http://purl.obolibrary.org/obo/HP_5200230	Maladaptive fear-related cognitions		Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
http://purl.obolibrary.org/obo/HP_0000741	Apathy	http://purl.obolibrary.org/obo/HP_0000745	Abnormal diminished volition		Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.
http://purl.obolibrary.org/obo/HP_0001254	Lethargy	http://purl.obolibrary.org/obo/HP_0000745	Abnormal diminished volition		A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
http://purl.obolibrary.org/obo/HP_0001289	Confusion	http://purl.obolibrary.org/obo/HP_0100543	Cognitive impairment		Lack of clarity and coherence of thought, perception, understanding, or action.
http://purl.obolibrary.org/obo/HP_0001480	Freckling	http://purl.obolibrary.org/obo/HP_0001000	Abnormality of skin pigmentation		The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
http://purl.obolibrary.org/obo/HP_0001513	Obesity	http://purl.obolibrary.org/obo/HP_0004324	Increased body weight		Accumulation of substantial excess body fat.
http://purl.obolibrary.org/obo/HP_0001618	Dysphonia	http://purl.obolibrary.org/obo/HP_0001608	Abnormality of the voice		Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
http://purl.obolibrary.org/obo/HP_0002098	Respiratory distress	http://purl.obolibrary.org/obo/HP_0002094	Dyspnea		Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
http://purl.obolibrary.org/obo/HP_0002204	Pulmonary embolism	http://purl.obolibrary.org/obo/HP_0030875	Abnormality of pulmonary circulation		An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
http://purl.obolibrary.org/obo/HP_0002653	Bone pain	http://purl.obolibrary.org/obo/HP_0012531	Pain		An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
http://purl.obolibrary.org/obo/HP_0003418	Back pain	http://purl.obolibrary.org/obo/HP_0012531	Pain		An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
http://purl.obolibrary.org/obo/HP_0003677	Slowly progressive	http://purl.obolibrary.org/obo/HP_0003676	Progressive		Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.
http://purl.obolibrary.org/obo/HP_0100034	Motor tics	http://purl.obolibrary.org/obo/HP_0100033	Tics		Movement-based tics affecting discrete muscle groups.
http://purl.obolibrary.org/obo/HP_0100502	Decreased circulating vitamin B12 concentration	http://purl.obolibrary.org/obo/HP_0040126	Abnormal circulating vitamin B12 concentration		The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.
http://purl.obolibrary.org/obo/HP_0100512	Decreased circulating vitamin D concentration	http://purl.obolibrary.org/obo/HP_0100511	Abnormality of vitamin D metabolism		The concentration of vitamin D in the blood circulation is below the lower limit of normal.
http://purl.obolibrary.org/obo/HP_0100699	Scarring	http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue		A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.
http://purl.obolibrary.org/obo/FOODON_00001327	pu dong	http://purl.obolibrary.org/obo/FOODON_00001054	fermented fish or seafood food product		Pu dong is a kind of fermented crab.
http://purl.obolibrary.org/obo/MONDO_0007671	fibronectin glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019722	glomerular disorder		A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.
http://purl.obolibrary.org/obo/MONDO_0003079	mastocytoma	http://purl.obolibrary.org/obo/MONDO_0002724	mast cell neoplasm		A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.
http://purl.obolibrary.org/obo/MONDO_0004951	susceptibility to HIV infection	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.
http://purl.obolibrary.org/obo/MONDO_0008679	Wilms tumor 1	http://purl.obolibrary.org/obo/MONDO_0003321	hereditary Wilms tumor		An autosomal disorder due to pathogenic variants in the WT1 gene leading to an increased risk Wilms tumor and genitourinary abnormalities incorporating Denys-Drash syndrome and Frasier syndrome.
http://purl.obolibrary.org/obo/MONDO_0010795	oncocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)
http://purl.obolibrary.org/obo/MONDO_0011118	bilineal acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0019460	acute leukemia of ambiguous lineage		An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003
http://purl.obolibrary.org/obo/MONDO_0011348	non-syndromic polydactyly	http://purl.obolibrary.org/obo/MONDO_0021003	polydactyly		A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.
http://purl.obolibrary.org/obo/MONDO_0015760	T-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003
http://purl.obolibrary.org/obo/MONDO_0016717	choroid plexus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.
http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor	http://purl.obolibrary.org/obo/MONDO_0021193	neuroepithelial neoplasm		A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0017343	Epstein-Barr virus-associated lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0017342	Epstein-Barr virus-related tumor		A range of lymphoproliferative diseases characterized by uncontrolled proliferation of B cells, T cells, or NK cells infected with Epstein-Barr virus. Depending on host immunity and viral factors, viral persistence in host cells can induce lymphoproliferation with a diverse clinical spectrum ranging from simple reactive hyperplasia to aggressive lymphoma/leukemia with unique clinical and pathological presentations.
http://purl.obolibrary.org/obo/MONDO_0018053	trichothiodystrophy	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).
http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma	http://purl.obolibrary.org/obo/MONDO_0024637	malignant soft tissue neoplasm		A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.
http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.
http://purl.obolibrary.org/obo/MONDO_0019228	inborn disorder of histidine metabolism	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019954	pancreatic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0005815	pancreatic neuroendocrine neoplasm		Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).
http://purl.obolibrary.org/obo/MONDO_0021047	breast phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0021046	breast fibroepithelial neoplasm		A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.
http://purl.obolibrary.org/obo/MONDO_0021053	carotid body paraganglioma	http://purl.obolibrary.org/obo/MONDO_0006239	head and neck paraganglioma		A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.
http://purl.obolibrary.org/obo/MONDO_0011258	branchiootic syndrome 1	http://purl.obolibrary.org/obo/MONDO_0018878	branchiootic syndrome		Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.
http://purl.obolibrary.org/obo/MONDO_0011269	psoriasis 2	http://purl.obolibrary.org/obo/MONDO_0005083	psoriasis		Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.
http://purl.obolibrary.org/obo/MONDO_0011280	schizophrenia 6	http://purl.obolibrary.org/obo/MONDO_0100182	schizophrenia, susceptibility to		A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.
http://purl.obolibrary.org/obo/MONDO_0011294	schizophrenia 5	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.
http://purl.obolibrary.org/obo/MONDO_0011295	schizophrenia 7	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.
http://purl.obolibrary.org/obo/MONDO_0011298	schizophrenia 8	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.
http://purl.obolibrary.org/obo/MONDO_0011307	schizophrenia 2	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.
http://purl.obolibrary.org/obo/MONDO_0011320	radioulnar synostosis-microcephaly-scoliosis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0011326	citrullinemia, type II, adult-onset	http://purl.obolibrary.org/obo/MONDO_0016603	citrullinemia type II		Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
http://purl.obolibrary.org/obo/MONDO_0011386	microvascular complications of diabetes, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0000065	microvascular complications of diabetes, susceptibility		Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene.
http://purl.obolibrary.org/obo/MONDO_0011393	hypoalphalipoproteinemia, primary, 1	http://purl.obolibrary.org/obo/MONDO_0700513	apolipoprotein A-I deficiency		Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.
http://purl.obolibrary.org/obo/MONDO_0011403	left ventricular noncompaction 1	http://purl.obolibrary.org/obo/MONDO_0018901	left ventricular noncompaction		Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.
http://purl.obolibrary.org/obo/MONDO_0011420	short stature due to partial GHR deficiency	http://purl.obolibrary.org/obo/MONDO_0015892	growth hormone insensitivity syndrome		Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
http://purl.obolibrary.org/obo/MONDO_0011444	Duane retraction syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007473	Duane retraction syndrome		Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.
http://purl.obolibrary.org/obo/MONDO_0011450	breast-ovarian cancer, familial, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0700268	BRCA1-related cancer predisposition		Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.
http://purl.obolibrary.org/obo/MONDO_0011451	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	http://purl.obolibrary.org/obo/MONDO_0015487	fatal infantile encephalocardiomyopathy		Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.
http://purl.obolibrary.org/obo/MONDO_0011461	generalized epilepsy with febrile seizures plus, type 2	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.
http://purl.obolibrary.org/obo/MONDO_0011468	hereditary motor and sensory neuropathy, Okinawa type	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.
http://purl.obolibrary.org/obo/MONDO_0011481	craniosynostosis 2	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
http://purl.obolibrary.org/obo/MONDO_0011496	mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	http://purl.obolibrary.org/obo/MONDO_1030002	dysplasia of the proximal femoral epiphyses		Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
http://purl.obolibrary.org/obo/MONDO_0011497	hereditary North American Indian childhood cirrhosis	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.
http://purl.obolibrary.org/obo/MONDO_0011498	schizophrenia 9	http://purl.obolibrary.org/obo/MONDO_0100182	schizophrenia, susceptibility to		A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.
http://purl.obolibrary.org/obo/MONDO_0011506	familial infantile myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0100577	myoclonic epilepsy		A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0011555	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
http://purl.obolibrary.org/obo/MONDO_0011583	cerebral amyloid angiopathy, APP-related	http://purl.obolibrary.org/obo/MONDO_1060190	APP-related brain and vascular amyloidosis		A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.
http://purl.obolibrary.org/obo/MONDO_0011603	GNE myopathy	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.
http://purl.obolibrary.org/obo/MONDO_0011604	spondylo-ocular syndrome	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
http://purl.obolibrary.org/obo/MONDO_0011605	generalized basaloid follicular hamartoma syndrome	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.
http://purl.obolibrary.org/obo/MONDO_0011627	intellectual developmental disorder with autism and speech delay	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		A neurodevelopmental disorder caused by the mutation in the TBR1 gene and characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits.
http://purl.obolibrary.org/obo/MONDO_0011639	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.
http://purl.obolibrary.org/obo/MONDO_0011676	PHACE syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.
http://purl.obolibrary.org/obo/MONDO_0011720	spermatogenic failure 3	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.
http://purl.obolibrary.org/obo/MONDO_0011724	encephalopathy due to GLUT1 deficiency	http://purl.obolibrary.org/obo/MONDO_0000188	GLUT1 deficiency syndrome		Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.
http://purl.obolibrary.org/obo/MONDO_0011739	pancreatic cancer, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.
http://purl.obolibrary.org/obo/MONDO_0011758	Hurler syndrome	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
http://purl.obolibrary.org/obo/MONDO_0011759	Hurler-Scheie syndrome	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
http://purl.obolibrary.org/obo/MONDO_0011775	nasopharyngeal carcinoma, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.
http://purl.obolibrary.org/obo/MONDO_0011795	anonychia-microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.
http://purl.obolibrary.org/obo/MONDO_0011805	asthma-related traits, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.
http://purl.obolibrary.org/obo/MONDO_0011814	Smith-McCort dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0015799	Smith-McCort dysplasia		Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.
http://purl.obolibrary.org/obo/MONDO_0011817	coronary heart disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene.
http://purl.obolibrary.org/obo/MONDO_0011823	developmental malformations-deafness-dystonia syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.
http://purl.obolibrary.org/obo/MONDO_0011826	glucocorticoid deficiency 2	http://purl.obolibrary.org/obo/MONDO_0008733	familial glucocorticoid deficiency		Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.
http://purl.obolibrary.org/obo/MONDO_0011829	coenzyme Q10 deficiency, primary, 1	http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency		Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.
http://purl.obolibrary.org/obo/MONDO_0011830	lissencephaly due to LIS1 mutation	http://purl.obolibrary.org/obo/MONDO_0015146	classic lissencephaly		Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.
http://purl.obolibrary.org/obo/MONDO_0011835	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	http://purl.obolibrary.org/obo/MONDO_0016798	ataxia neuropathy spectrum		A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
http://purl.obolibrary.org/obo/MONDO_0011875	epilepsy, idiopathic generalized, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_1030001	epilepsy, juvenile absence, susceptibility to		An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene.
http://purl.obolibrary.org/obo/MONDO_0011885	tubulointerstitial nephritis and uveitis syndrome	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.
http://purl.obolibrary.org/obo/MONDO_0011891	febrile seizures, familial, 8	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.
http://purl.obolibrary.org/obo/MONDO_0011892	epilepsy, idiopathic generalized, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.
http://purl.obolibrary.org/obo/MONDO_0011896	Parkinson disease 11, autosomal dominant, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene.
http://purl.obolibrary.org/obo/MONDO_0011899	Noonan syndrome-like disorder with loose anagen hair	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.
http://purl.obolibrary.org/obo/MONDO_0011917	focal segmental glomerulosclerosis 3, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene.
http://purl.obolibrary.org/obo/MONDO_0011919	autoimmune disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.
http://purl.obolibrary.org/obo/MONDO_0011923	osteoarthritis susceptibility 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.
http://purl.obolibrary.org/obo/MONDO_0011930	epilepsy, familial adult myoclonic, 2	http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic		Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.
http://purl.obolibrary.org/obo/MONDO_0011933	ALG2-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0011937	peeling skin syndrome 4	http://purl.obolibrary.org/obo/MONDO_0019347	peeling skin syndrome		Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.
http://purl.obolibrary.org/obo/MONDO_0011953	familial acute necrotizing encephalopathy	http://purl.obolibrary.org/obo/MONDO_0000166	encephalopathy, acute, infection-induced		Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen.
http://purl.obolibrary.org/obo/MONDO_0011957	retinal macular dystrophy type 2	http://purl.obolibrary.org/obo/MONDO_0031166	macular dystrophy, retinal		Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.
http://purl.obolibrary.org/obo/MONDO_0011960	schizophrenia 11	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in a mutation on chromosome 10q22.3.
http://purl.obolibrary.org/obo/MONDO_0011970	rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.
http://purl.obolibrary.org/obo/MONDO_0012013	Weill-Marchesani syndrome 2, dominant	http://purl.obolibrary.org/obo/MONDO_0018096	Weill-Marchesani syndrome		A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.
http://purl.obolibrary.org/obo/MONDO_0012044	corneal dystrophy, lattice type 3A	http://purl.obolibrary.org/obo/MONDO_0004686	lattice corneal dystrophy		Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.
http://purl.obolibrary.org/obo/MONDO_0012054	schizophrenia 12	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		A schizophrenia that has material basis in a mutation on chromosome 1p36.2.
http://purl.obolibrary.org/obo/MONDO_0012072	familial partial lipodystrophy, Kobberling type	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0012080	neuronopathy, distal hereditary motor, type 2B	http://purl.obolibrary.org/obo/MONDO_0015352	distal hereditary motor neuropathy type 2		Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.
http://purl.obolibrary.org/obo/MONDO_0012081	15q11q13 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016965	partial duplication of the long arm of chromosome 15		The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.
http://purl.obolibrary.org/obo/MONDO_0012092	hereditary sensory and autonomic neuropathy type 5	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.
http://purl.obolibrary.org/obo/MONDO_0012124	sudden infant death-dysgenesis of the testes syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
http://purl.obolibrary.org/obo/MONDO_0012132	colorectal cancer, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.
http://purl.obolibrary.org/obo/MONDO_0012136	carnitine palmitoyl transferase II deficiency, neonatal form	http://purl.obolibrary.org/obo/MONDO_0015515	carnitine palmitoyltransferase II deficiency		The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
http://purl.obolibrary.org/obo/MONDO_0012137	Carney complex - trismus - pseudocamptodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0016432	heart-hand syndrome		Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
http://purl.obolibrary.org/obo/MONDO_0012141	orofacial cleft 6, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.
http://purl.obolibrary.org/obo/MONDO_0012160	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0012164	Meacham syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.
http://purl.obolibrary.org/obo/MONDO_0012166	autosomal dominant sensory ataxia 1	http://purl.obolibrary.org/obo/MONDO_0100311	sensory ataxia		Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.
http://purl.obolibrary.org/obo/MONDO_0012173	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0012177	posterior column ataxia-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0100449	FLVCR1-related retinopathy with or without ataxia		Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.
http://purl.obolibrary.org/obo/MONDO_0012179	narcolepsy 3	http://purl.obolibrary.org/obo/MONDO_0100554	hereditary narcolepsy		A rare, autosomal dominant form of narcolepsy mapped to chromosome 21q, between genetic markers D21S267 and ABCG1. 6 patients with the milder form were DQB1*0602-positive.
http://purl.obolibrary.org/obo/MONDO_0012203	familial hyperthyroidism due to mutations in TSH receptor	http://purl.obolibrary.org/obo/MONDO_0004425	hyperthyroidism		Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
http://purl.obolibrary.org/obo/MONDO_0012205	autosomal dominant striatal neurodegeneration type 1	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.
http://purl.obolibrary.org/obo/MONDO_0012212	Loeys-Dietz syndrome 1	http://purl.obolibrary.org/obo/MONDO_0018954	Loeys-Dietz syndrome		A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.
http://purl.obolibrary.org/obo/MONDO_0012217	Bruck syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.
http://purl.obolibrary.org/obo/MONDO_0012221	alpha-N-acetylgalactosaminidase deficiency type 1	http://purl.obolibrary.org/obo/MONDO_0017779	alpha-N-acetylgalactosaminidase deficiency		Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
http://purl.obolibrary.org/obo/MONDO_0012222	alpha-N-acetylgalactosaminidase deficiency type 2	http://purl.obolibrary.org/obo/MONDO_0017779	alpha-N-acetylgalactosaminidase deficiency		Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
http://purl.obolibrary.org/obo/MONDO_0012245	developmental and epileptic encephalopathy, 3	http://purl.obolibrary.org/obo/MONDO_0800491	early-infantile DEE		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.
http://purl.obolibrary.org/obo/MONDO_0012249	Lynch syndrome 2	http://purl.obolibrary.org/obo/MONDO_0005835	Lynch syndrome		An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occurring at younger ages.
http://purl.obolibrary.org/obo/MONDO_0012252	rhabdoid tumor predisposition syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016473	familial rhabdoid tumor		Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.
http://purl.obolibrary.org/obo/MONDO_0012312	short QT syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0000453	short QT syndrome		Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.
http://purl.obolibrary.org/obo/MONDO_0012313	short QT syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0000453	short QT syndrome		Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
http://purl.obolibrary.org/obo/MONDO_0012314	short QT syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0000453	short QT syndrome		Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.
http://purl.obolibrary.org/obo/MONDO_0012349	spondylocostal dysostosis 3, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010180	autosomal recessive spondylocostal dysostosis		Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.
http://purl.obolibrary.org/obo/MONDO_0012360	congenital nongoitrous hypothyroidism 3	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.
http://purl.obolibrary.org/obo/MONDO_0012368	aminoacylase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017686	inborn aminoacylase deficiency		Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.
http://purl.obolibrary.org/obo/MONDO_0012381	hyperinsulinism due to INSR deficiency	http://purl.obolibrary.org/obo/MONDO_0017182	familial hyperinsulinism		Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
http://purl.obolibrary.org/obo/MONDO_0012408	microphthalmia, isolated, with coloboma 3	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.
http://purl.obolibrary.org/obo/MONDO_0012410	Finnish upper limb-onset distal myopathy	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.
http://purl.obolibrary.org/obo/MONDO_0012413	syndromic microphthalmia type 5	http://purl.obolibrary.org/obo/MONDO_0016073	syndromic microphthalmia		Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
http://purl.obolibrary.org/obo/MONDO_0012426	immunodeficiency 25	http://purl.obolibrary.org/obo/MONDO_0015703	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.
http://purl.obolibrary.org/obo/MONDO_0012427	Loeys-Dietz syndrome 2	http://purl.obolibrary.org/obo/MONDO_0018954	Loeys-Dietz syndrome		A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.
http://purl.obolibrary.org/obo/MONDO_0012429	Aicardi-Goutieres syndrome 2	http://purl.obolibrary.org/obo/MONDO_0700257	RNASEH2B-related type 1 interferonopathy		Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.
http://purl.obolibrary.org/obo/MONDO_0012439	Alagille syndrome due to a NOTCH2 point mutation	http://purl.obolibrary.org/obo/MONDO_0007318	Alagille syndrome		A genetic condition caused by pathogenic variants in the NOTCH2 gene upstream of those implicated with Hajdu-Cheney syndrome. The mechanism of pathogenicity for Alagille syndrome appears to be haploinsufficiency. Key features include bile duct paucity, cholestasis, congenital heart defects, butterfly vertebrae, posterior embryotoxon, and distinctive facial characteristics. Renal abnormalities may also be present.
http://purl.obolibrary.org/obo/MONDO_0012466	Parkinson disease 13, autosomal dominant, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing young-onset Parkinson disease, in which the cause of the disease is a mutation in the HTRA2 gene.
http://purl.obolibrary.org/obo/MONDO_0012484	prosopagnosia, hereditary	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0012500	chilblain lupus 1	http://purl.obolibrary.org/obo/MONDO_0700256	TREX1-related type 1 interferonopathy		Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.
http://purl.obolibrary.org/obo/MONDO_0012519	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	http://purl.obolibrary.org/obo/MONDO_0022752	chromosome 16p13.3 deletion syndrome		Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.
http://purl.obolibrary.org/obo/MONDO_0012522	diabetes mellitus, transient neonatal, 3	http://purl.obolibrary.org/obo/MONDO_0020525	transient neonatal diabetes mellitus		Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.
http://purl.obolibrary.org/obo/MONDO_0012534	combined oxidative phosphorylation defect type 4	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.
http://purl.obolibrary.org/obo/MONDO_0012546	nephrotic syndrome, type 3	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.
http://purl.obolibrary.org/obo/MONDO_0012548	Kostmann syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.
http://purl.obolibrary.org/obo/MONDO_0012549	autosomal recessive ataxia, Beauce type	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.
http://purl.obolibrary.org/obo/MONDO_0012555	Cornelia de Lange syndrome 3	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.
http://purl.obolibrary.org/obo/MONDO_0012575	branchiootorenal syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007029	branchio-oto-renal syndrome		Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.
http://purl.obolibrary.org/obo/MONDO_0012584	systemic lupus erythematosus, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene.
http://purl.obolibrary.org/obo/MONDO_0012585	coronary heart disease, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.
http://purl.obolibrary.org/obo/MONDO_0012595	leprosy, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any leprosy in which the cause of the disease is a mutation in the LTA gene.
http://purl.obolibrary.org/obo/MONDO_0012607	asthma-related traits, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.
http://purl.obolibrary.org/obo/MONDO_0012622	leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
http://purl.obolibrary.org/obo/MONDO_0012626	Meckel syndrome, type 4	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.
http://purl.obolibrary.org/obo/MONDO_0012700	renal tubular acidosis, distal, 4, with hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0018440	autosomal recessive distal renal tubular acidosis		A very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.
http://purl.obolibrary.org/obo/MONDO_0012703	lissencephaly due to TUBA1A mutation	http://purl.obolibrary.org/obo/MONDO_0015148	lissencephaly type 3		Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
http://purl.obolibrary.org/obo/MONDO_0012718	hypotonia with lactic acidemia and hyperammonemia	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.
http://purl.obolibrary.org/obo/MONDO_0012756	proximal 16p11.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016894	partial deletion of the short arm of chromosome 16		A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
http://purl.obolibrary.org/obo/MONDO_0012757	lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency		Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.
http://purl.obolibrary.org/obo/MONDO_0012763	epilepsy, childhood absence, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene.
http://purl.obolibrary.org/obo/MONDO_0012771	asthma-related traits, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.
http://purl.obolibrary.org/obo/MONDO_0012786	juvenile cataract-microcornea-renal glucosuria syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.
http://purl.obolibrary.org/obo/MONDO_0012820	colorectal cancer, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.
http://purl.obolibrary.org/obo/MONDO_0012834	systemic lupus erythematosus, susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.
http://purl.obolibrary.org/obo/MONDO_0012835	systemic lupus erythematosus, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.
http://purl.obolibrary.org/obo/MONDO_0012843	epilepsy, childhood absence, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.
http://purl.obolibrary.org/obo/MONDO_0012878	Cowden syndrome 2	http://purl.obolibrary.org/obo/MONDO_0016063	Cowden disease		Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.
http://purl.obolibrary.org/obo/MONDO_0012879	schizophrenia 14	http://purl.obolibrary.org/obo/MONDO_0100182	schizophrenia, susceptibility to		A schizophrenia that has material basis in a mutation on chromosome 2q32.1.
http://purl.obolibrary.org/obo/MONDO_0012885	SRD5A3-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.
http://purl.obolibrary.org/obo/MONDO_0012888	sarcoidosis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.
http://purl.obolibrary.org/obo/MONDO_0012893	osteoarthritis susceptibility 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.
http://purl.obolibrary.org/obo/MONDO_0012931	focal segmental glomerulosclerosis 4, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.
http://purl.obolibrary.org/obo/MONDO_0012933	breast-ovarian cancer, familial, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0700269	BRCA2-related cancer predisposition		Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.
http://purl.obolibrary.org/obo/MONDO_0012937	Diamond-Blackfan anemia 6	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.
http://purl.obolibrary.org/obo/MONDO_0012953	colorectal cancer, susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.
http://purl.obolibrary.org/obo/MONDO_0012962	microvascular complications of diabetes, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0000065	microvascular complications of diabetes, susceptibility		Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene.
http://purl.obolibrary.org/obo/MONDO_0012963	microvascular complications of diabetes, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0000065	microvascular complications of diabetes, susceptibility		Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene.
http://purl.obolibrary.org/obo/MONDO_0012966	microvascular complications of diabetes, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0000065	microvascular complications of diabetes, susceptibility		Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene.
http://purl.obolibrary.org/obo/MONDO_0012970	microvascular complications of diabetes, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0000065	microvascular complications of diabetes, susceptibility		Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene.
http://purl.obolibrary.org/obo/MONDO_0012987	agammaglobulinemia 6, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia		Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.
http://purl.obolibrary.org/obo/MONDO_0013000	porphyria due to ALA dehydratase deficiency	http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria		A hepatic porphyria caused by biallelic variants in ALAD (in an autosomal recessive inheritance pattern). This is an extremely rare form of hepatic porphyria characterized by neuro-visceral attacks, nausea, vomiting, diarrhea, neuropathy, and abdominal pain without cutaneous manifestations. Because the disease is so rare, inducible triggers are not well-documented.
http://purl.obolibrary.org/obo/MONDO_0013003	isolated congenital hypoglossia/aglossia	http://purl.obolibrary.org/obo/MONDO_0017139	oromandibular-limb hypogenesis syndrome		Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).
http://purl.obolibrary.org/obo/MONDO_0013028	adenosine monophosphate deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.
http://purl.obolibrary.org/obo/MONDO_0013032	epilepsy, idiopathic generalized, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene.
http://purl.obolibrary.org/obo/MONDO_0013047	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis		A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.
http://purl.obolibrary.org/obo/MONDO_0013069	autosomal recessive optic atrophy, OPA7 type	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		An optic atrophy that is caused by a mutation in the TMEM126A gene.
http://purl.obolibrary.org/obo/MONDO_0013072	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020336	autosomal dominant Emery-Dreifuss muscular dystrophy		Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.
http://purl.obolibrary.org/obo/MONDO_0013073	palmoplantar keratoderma, nonepidermolytic, focal 1	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.
http://purl.obolibrary.org/obo/MONDO_0013083	neuroblastoma, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.
http://purl.obolibrary.org/obo/MONDO_0013089	schizophrenia 13	http://purl.obolibrary.org/obo/MONDO_0100182	schizophrenia, susceptibility to		A schizophrenia that has material basis in a mutation on chromosome 15q13.
http://purl.obolibrary.org/obo/MONDO_0013092	glioma susceptibility 2	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.
http://purl.obolibrary.org/obo/MONDO_0013093	glioma susceptibility 3	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.
http://purl.obolibrary.org/obo/MONDO_0013098	noise induced hearing loss	http://purl.obolibrary.org/obo/MONDO_0005365	hearing loss disorder		A condition in which a person loses the ability to hear due to exposure to high intensity sound.
http://purl.obolibrary.org/obo/MONDO_0013103	epilepsy, idiopathic generalized, susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene.
http://purl.obolibrary.org/obo/MONDO_0013111	acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
http://purl.obolibrary.org/obo/MONDO_0013129	cone dystrophy 4	http://purl.obolibrary.org/obo/MONDO_1040028	PDE6C-related retinopathy		Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.
http://purl.obolibrary.org/obo/MONDO_0013140	candidiasis, familial, 4	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.
http://purl.obolibrary.org/obo/MONDO_0013142	neuropathy, hereditary sensory and autonomic, type 2B	http://purl.obolibrary.org/obo/MONDO_0019941	hereditary sensory and autonomic neuropathy type 2		Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.
http://purl.obolibrary.org/obo/MONDO_0013154	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.
http://purl.obolibrary.org/obo/MONDO_0013158	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
http://purl.obolibrary.org/obo/MONDO_0013160	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	http://purl.obolibrary.org/obo/MONDO_0700071	myopathy caused by variation in POMT2		An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.
http://purl.obolibrary.org/obo/MONDO_0013185	leprosy, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any leprosy in which the cause of the disease is a mutation in the TLR1 gene.
http://purl.obolibrary.org/obo/MONDO_0013193	thyrotoxic periodic paralysis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.
http://purl.obolibrary.org/obo/MONDO_0013199	tuberous sclerosis 2	http://purl.obolibrary.org/obo/MONDO_0001734	tuberous sclerosis		An autosomal dominant syndrome caused by pathogenic variants in the TSC2 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.
http://purl.obolibrary.org/obo/MONDO_0013203	corneal dystrophy, Fuchs endothelial, 3	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy		Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.
http://purl.obolibrary.org/obo/MONDO_0013204	corneal dystrophy, Fuchs endothelial, 4	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy		Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.
http://purl.obolibrary.org/obo/MONDO_0013206	corneal dystrophy, Fuchs endothelial, 6	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy		Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.
http://purl.obolibrary.org/obo/MONDO_0013229	hot water reflex epilepsy	http://purl.obolibrary.org/obo/MONDO_0023224	inherited reflex epilepsy		Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.
http://purl.obolibrary.org/obo/MONDO_0013233	spondyloepimetaphyseal dysplasia, Handigodu type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.
http://purl.obolibrary.org/obo/MONDO_0013235	pancreatic cancer, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0700269	BRCA2-related cancer predisposition		Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.
http://purl.obolibrary.org/obo/MONDO_0013236	pancreatic cancer, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0700272	PALB2-related cancer predisposition		Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.
http://purl.obolibrary.org/obo/MONDO_0013243	neuronopathy, distal hereditary motor, type 2C	http://purl.obolibrary.org/obo/MONDO_0015352	distal hereditary motor neuropathy type 2		Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.
http://purl.obolibrary.org/obo/MONDO_0013247	Fanconi renotubular syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007600	primary Fanconi syndrome		Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.
http://purl.obolibrary.org/obo/MONDO_0013253	breast-ovarian cancer, familial, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0100526	breast-ovarian cancer, familial, susceptibility to		Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.
http://purl.obolibrary.org/obo/MONDO_0013255	arthrogryposis, renal dysfunction, and cholestasis 2	http://purl.obolibrary.org/obo/MONDO_0017123	arthrogryposis-renal dysfunction-cholestasis syndrome		Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.
http://purl.obolibrary.org/obo/MONDO_0013266	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.
http://purl.obolibrary.org/obo/MONDO_0013275	hemolytic anemia due to glucophosphate isomerase deficiency	http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder		A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment.
http://purl.obolibrary.org/obo/MONDO_0013277	developmental and epileptic encephalopathy, 5	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013278	lymphatic malformation 3	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.
http://purl.obolibrary.org/obo/MONDO_0013281	COG4-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0017750	defect in conserved oligomeric Golgi complex		COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
http://purl.obolibrary.org/obo/MONDO_0013285	immunodeficiency, common variable, 5	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.
http://purl.obolibrary.org/obo/MONDO_0013286	immunodeficiency, common variable, 6	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.
http://purl.obolibrary.org/obo/MONDO_0013287	agammaglobulinemia 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia		Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.
http://purl.obolibrary.org/obo/MONDO_0013288	agammaglobulinemia 3, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia		Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.
http://purl.obolibrary.org/obo/MONDO_0013289	agammaglobulinemia 4, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia		Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.
http://purl.obolibrary.org/obo/MONDO_0013290	agammaglobulinemia 5, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia		Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.
http://purl.obolibrary.org/obo/MONDO_0013296	myeloid neoplasm associated with FGFR1 rearrangement	http://purl.obolibrary.org/obo/MONDO_0015688	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2		Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.
http://purl.obolibrary.org/obo/MONDO_0013303	autoimmune disease, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.
http://purl.obolibrary.org/obo/MONDO_0013306	combined oxidative phosphorylation defect type 7	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
http://purl.obolibrary.org/obo/MONDO_0013307	myopathy, lactic acidosis, and sideroblastic anemia 2	http://purl.obolibrary.org/obo/MONDO_0000863	myopathy, lactic acidosis, and sideroblastic anemia		Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0013308	CBL-related disorder	http://purl.obolibrary.org/obo/MONDO_0021060	RASopathy		CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.
http://purl.obolibrary.org/obo/MONDO_0013317	torsade-de-pointes syndrome with short coupling interval	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.
http://purl.obolibrary.org/obo/MONDO_0013323	cranioectodermal dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0009032	cranioectodermal dysplasia		Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.
http://purl.obolibrary.org/obo/MONDO_0013325	COG5-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0017750	defect in conserved oligomeric Golgi complex		COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
http://purl.obolibrary.org/obo/MONDO_0013326	Senior-Loken syndrome 7	http://purl.obolibrary.org/obo/MONDO_0700379	SDCCAG8-related ciliopathy		Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.
http://purl.obolibrary.org/obo/MONDO_0013329	familial clubfoot due to 17q23.1q23.2 microduplication	http://purl.obolibrary.org/obo/MONDO_0016046	familial clubfoot with or without associated lower limb anomalies		17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
http://purl.obolibrary.org/obo/MONDO_0013331	factor 5 and Factor VIII, combined deficiency of, 2	http://purl.obolibrary.org/obo/MONDO_0018175	combined deficiency of factor V and factor VIII		Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.
http://purl.obolibrary.org/obo/MONDO_0013333	odontoid hypoplasia	http://purl.obolibrary.org/obo/MONDO_0005497	bone development disease		An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.
http://purl.obolibrary.org/obo/MONDO_0013337	neuropathy, hereditary sensory and autonomic, type 1C	http://purl.obolibrary.org/obo/MONDO_0018213	hereditary sensory and autonomic neuropathy type 1		A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
http://purl.obolibrary.org/obo/MONDO_0013340	Parkinson disease 5, autosomal dominant, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.
http://purl.obolibrary.org/obo/MONDO_0013344	migraine, with or without aura, susceptibility to, 13	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.
http://purl.obolibrary.org/obo/MONDO_0013345	d-2-hydroxyglutaric aciduria 2	http://purl.obolibrary.org/obo/MONDO_0010924	D-2-hydroxyglutaric aciduria		Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.
http://purl.obolibrary.org/obo/MONDO_0013349	ALG11-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
http://purl.obolibrary.org/obo/MONDO_0013351	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
http://purl.obolibrary.org/obo/MONDO_0013355	congenital dyserythropoietic anemia type 4	http://purl.obolibrary.org/obo/MONDO_0019403	congenital dyserythropoietic anemia		Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
http://purl.obolibrary.org/obo/MONDO_0013356	vesicoureteral reflux 3	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.
http://purl.obolibrary.org/obo/MONDO_0013358	Seckel syndrome 4	http://purl.obolibrary.org/obo/MONDO_0700054	microcephaly 6 with or without short stature		Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.
http://purl.obolibrary.org/obo/MONDO_0013359	familial hyperaldosteronism type III	http://purl.obolibrary.org/obo/MONDO_0016525	familial hyperaldosteronism		Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.
http://purl.obolibrary.org/obo/MONDO_0013364	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.
http://purl.obolibrary.org/obo/MONDO_0013366	spondylocostal dysostosis 4, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010180	autosomal recessive spondylocostal dysostosis		Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.
http://purl.obolibrary.org/obo/MONDO_0013368	mammary-digital-nail syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
http://purl.obolibrary.org/obo/MONDO_0013375	Klippel-Feil syndrome 3, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001029	Klippel-Feil syndrome		Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.
http://purl.obolibrary.org/obo/MONDO_0013380	LEOPARD syndrome 3	http://purl.obolibrary.org/obo/MONDO_0007893	Noonan syndrome with multiple lentigines		Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.
http://purl.obolibrary.org/obo/MONDO_0013381	neuropathy, hereditary sensory, type 1D	http://purl.obolibrary.org/obo/MONDO_0018213	hereditary sensory and autonomic neuropathy type 1		A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.
http://purl.obolibrary.org/obo/MONDO_0013382	progressive demyelinating neuropathy with bilateral striatal necrosis	http://purl.obolibrary.org/obo/MONDO_0000152	thiamine-responsive dysfunction syndrome		Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.
http://purl.obolibrary.org/obo/MONDO_0013384	Hirschsprung disease, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.
http://purl.obolibrary.org/obo/MONDO_0013385	Treacher Collins syndrome 2	http://purl.obolibrary.org/obo/MONDO_0002457	Treacher-Collins syndrome		Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.
http://purl.obolibrary.org/obo/MONDO_0013387	developmental and epileptic encephalopathy, 7	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0013388	developmental and epileptic encephalopathy, 11	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.
http://purl.obolibrary.org/obo/MONDO_0013391	sterol carrier protein 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019233	disorder of peroxisomal beta oxidation		A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
http://purl.obolibrary.org/obo/MONDO_0013393	distal 7q11.23 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016906	partial deletion of the long arm of chromosome 7		Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
http://purl.obolibrary.org/obo/MONDO_0013397	acne inversa, familial, 2	http://purl.obolibrary.org/obo/MONDO_0024516	familial acne inversa		Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.
http://purl.obolibrary.org/obo/MONDO_0013398	acne inversa, familial, 3	http://purl.obolibrary.org/obo/MONDO_0024516	familial acne inversa		Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013403	heterotaxy, visceral, 4, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.
http://purl.obolibrary.org/obo/MONDO_0013408	FADD-related immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
http://purl.obolibrary.org/obo/MONDO_0013428	Meier-Gorlin syndrome 2	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.
http://purl.obolibrary.org/obo/MONDO_0013430	Meier-Gorlin syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.
http://purl.obolibrary.org/obo/MONDO_0013431	Meier-Gorlin syndrome 4	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.
http://purl.obolibrary.org/obo/MONDO_0013432	Meier-Gorlin syndrome 5	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.
http://purl.obolibrary.org/obo/MONDO_0013443	Seckel syndrome 5	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.
http://purl.obolibrary.org/obo/MONDO_0014471	mitochondrial proton-transporting ATP synthase complex deficiency	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).
http://purl.obolibrary.org/obo/MONDO_0015278	familial pancreatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0005192	exocrine pancreatic carcinoma		Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.
http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018894	distal hereditary motor neuropathy		Autosomal recessive form of distal hereditary motor neuropathy.
http://purl.obolibrary.org/obo/MONDO_0015372	autosomal dominant macrothrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
http://purl.obolibrary.org/obo/MONDO_0015447	differentiated thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.
http://purl.obolibrary.org/obo/MONDO_0015550	suprabasal epidermolysis bullosa simplex	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.
http://purl.obolibrary.org/obo/MONDO_0015660	sporadic fetal brain disruption sequence	http://purl.obolibrary.org/obo/MONDO_0002602	central nervous system disorder		Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.
http://purl.obolibrary.org/obo/MONDO_0015695	combined immunodeficiency due to CRAC channel dysfunction	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.
http://purl.obolibrary.org/obo/MONDO_0015700	immunodeficiency due to a late component of complement deficiency	http://purl.obolibrary.org/obo/MONDO_0003832	complement deficiency		A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.
http://purl.obolibrary.org/obo/MONDO_0016146	caveolinopathy	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals
http://purl.obolibrary.org/obo/MONDO_0016364	Joubert syndrome with ocular defect	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.
http://purl.obolibrary.org/obo/MONDO_0016396	pontocerebellar hypoplasia type 1	http://purl.obolibrary.org/obo/MONDO_0016113	bulbospinal muscular atrophy		Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.
http://purl.obolibrary.org/obo/MONDO_0016463	syndromic agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia		A agammaglobulinemia that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0016473	familial rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.
http://purl.obolibrary.org/obo/MONDO_0016542	IL10-related early-onset inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.
http://purl.obolibrary.org/obo/MONDO_0016602	citrin deficiency	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
http://purl.obolibrary.org/obo/MONDO_0016603	citrullinemia type II	http://purl.obolibrary.org/obo/MONDO_0016602	citrin deficiency		Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.
http://purl.obolibrary.org/obo/MONDO_0016779	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	http://purl.obolibrary.org/obo/MONDO_0100499	multiple congenital anomalies due to 14q32.2 imprinting defect		A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.
http://purl.obolibrary.org/obo/MONDO_0016883	partial deletion of the short arm of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0016866	partial deletion of chromosome 1		Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016903	partial deletion of the long arm of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0016869	partial deletion of chromosome 4		Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016905	partial deletion of the long arm of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016871	partial deletion of chromosome 6		Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016912	partial deletion of the long arm of chromosome 14	http://purl.obolibrary.org/obo/MONDO_0000761	syndrome caused by partial chromosomal deletion		Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.
http://purl.obolibrary.org/obo/MONDO_0016949	partial duplication of the short arm of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0016934	partial duplication of chromosome 16		Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016954	partial duplication of the long arm of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0016923	partial duplication of chromosome 3		Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016958	partial duplication of the long arm of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0016928	partial duplication of chromosome 7		Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016965	partial duplication of the long arm of chromosome 15	http://purl.obolibrary.org/obo/MONDO_0000762	syndrome caused by partial chromosomal duplication		Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016995	familial multiple meningioma	http://purl.obolibrary.org/obo/MONDO_0016743	tumor of meninges		Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0017091	bilateral polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0000087	polymicrogyria		Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.
http://purl.obolibrary.org/obo/MONDO_0017182	familial hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0005803	hyperinsulinemic hypoglycemia		An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux	http://purl.obolibrary.org/obo/MONDO_0006007	vesicoureteral reflux		Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.
http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome	http://purl.obolibrary.org/obo/MONDO_0018424	inherited lipoic acid biosynthesis defect		Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.
http://purl.obolibrary.org/obo/MONDO_0017385	malignant migrating partial seizures of infancy	http://purl.obolibrary.org/obo/MONDO_0020070	neonatal epilepsy syndrome		A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.
http://purl.obolibrary.org/obo/MONDO_0017627	congenital hereditary facial paralysis-variable hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.
http://purl.obolibrary.org/obo/MONDO_0017746	atypical Rett syndrome	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).
http://purl.obolibrary.org/obo/MONDO_0017779	alpha-N-acetylgalactosaminidase deficiency	http://purl.obolibrary.org/obo/MONDO_0019251	oligosaccharidosis		Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
http://purl.obolibrary.org/obo/MONDO_0017896	familial nonmedullary thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.
http://purl.obolibrary.org/obo/MONDO_0018013	complement 3 glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0018904	primary membranoproliferative glomerulonephritis		A rare primary membranoproliferative glomerulonephritis characterized by complement dysregulation occurring in the fluid phase and in the glomerular microenvironment, which results in prominent complement C3 deposition in kidney biopsy samples.
http://purl.obolibrary.org/obo/MONDO_0018029	congenital factor XIII deficiency	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.
http://purl.obolibrary.org/obo/MONDO_0018101	familial primary hypomagnesemia with normocalciuria and normocalcemia	http://purl.obolibrary.org/obo/MONDO_0017626	familial primary hypomagnesemia with normocalcuria		Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.
http://purl.obolibrary.org/obo/MONDO_0018162	neurometabolic disorder due to serine deficiency	http://purl.obolibrary.org/obo/MONDO_0019239	inborn disorder of serine family metabolism		Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.
http://purl.obolibrary.org/obo/MONDO_0018171	malignant germ cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0018365	malignant non-epithelial tumor of ovary		Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.
http://purl.obolibrary.org/obo/MONDO_0018274	GM3 synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.
http://purl.obolibrary.org/obo/MONDO_0018541	familial hypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0015900	hypoaldosteronism disease		Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).
http://purl.obolibrary.org/obo/MONDO_0018959	potassium-aggravated myotonia	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.
http://purl.obolibrary.org/obo/MONDO_0018996	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	http://purl.obolibrary.org/obo/MONDO_0020771	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy		A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.
http://purl.obolibrary.org/obo/MONDO_0019009	isolated focal cortical dysplasia	http://purl.obolibrary.org/obo/MONDO_0100283	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes		Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.
http://purl.obolibrary.org/obo/MONDO_0019144	hereditary thrombophilia due to congenital protein S deficiency	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
http://purl.obolibrary.org/obo/MONDO_0019376	West-Nile encephalitis	http://purl.obolibrary.org/obo/MONDO_0002282	West Nile fever		An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.
http://purl.obolibrary.org/obo/MONDO_0019394	Senior-Boichis syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
http://purl.obolibrary.org/obo/MONDO_0019401	sporadic idiopathic steroid-resistant nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0044765	steroid-resistant nephrotic syndrome		Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema.
http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0018778	intermediate Charcot-Marie-Tooth disease		Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.
http://purl.obolibrary.org/obo/MONDO_0019573	autosomal recessive cutis laxa type 2	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).
http://purl.obolibrary.org/obo/MONDO_0019756	lobar holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.
http://purl.obolibrary.org/obo/MONDO_0019757	alobar holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.
http://purl.obolibrary.org/obo/MONDO_0019806	primary progressive aphasia	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).
http://purl.obolibrary.org/obo/MONDO_0020071	infantile epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome		An epilepsy syndrome that occurs between 28 days to one year of life.
http://purl.obolibrary.org/obo/MONDO_0020089	acquired lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0006573	lipodystrophy		An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0020336	autosomal dominant Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		Autosomal dominant form of Emery-Dreifuss muscular dystrophy.
http://purl.obolibrary.org/obo/MONDO_0020561	myxoid/round cell liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005060	liposarcoma		Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.
http://purl.obolibrary.org/obo/MONDO_0021038	Ewing sarcoma/peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0005564	embryonal neoplasm		A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.
http://purl.obolibrary.org/obo/HP_0020047	Abnormal myeloid cell morphology	http://purl.obolibrary.org/obo/HP_0005561	Abnormal bone marrow cell morphology		Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.
http://purl.obolibrary.org/obo/HP_0025580	Abnormal right atrium morphology	http://purl.obolibrary.org/obo/HP_0005120	Abnormal cardiac atrium morphology		Any structural abnormality of the right atrium.
http://purl.obolibrary.org/obo/HP_0031650	Abnormal atrioventricular valve physiology	http://purl.obolibrary.org/obo/HP_0031653	Abnormal heart valve physiology		Any functional defect of the mitral or tricuspid valve.
http://purl.obolibrary.org/obo/HP_0031653	Abnormal heart valve physiology	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		Any functional abnormality of a cardiac valve.
http://purl.obolibrary.org/obo/HP_0031685	Abnormal stool composition	http://purl.obolibrary.org/obo/HP_0025033	Abnormal digestive system morphology		Abnormal level of metabolite or other abnormal analyte result in a stool test.
http://purl.obolibrary.org/obo/HP_0500033	Abnormal natural killer subset distribution	http://purl.obolibrary.org/obo/HP_0012176	Abnormal natural killer cell morphology		Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.
http://purl.obolibrary.org/obo/MONDO_0024278	proctocolitis	http://purl.obolibrary.org/obo/MONDO_0005538	proctitis		Inflammation of the rectum and colon.
http://purl.obolibrary.org/obo/MONDO_0100001	alpha-gal syndrome	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).
http://purl.obolibrary.org/obo/MONDO_0100002	food protein-induced allergic proctocolitis	http://purl.obolibrary.org/obo/MONDO_0024278	proctocolitis		A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.
http://purl.obolibrary.org/obo/HP_0031910	Abnormal cranial nerve physiology	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
http://purl.obolibrary.org/obo/MONDO_0060782	premalignant hematological system disease	http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition		A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.
http://purl.obolibrary.org/obo/MONDO_0021367	leukemia, myeloid, accelerated-phase	http://purl.obolibrary.org/obo/MONDO_0011996	chronic myeloid leukemia		The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.
http://purl.obolibrary.org/obo/MONDO_0020776	chlamydiaceae infections	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Infections with bacteria of the family CHLAMYDIACEAE.
http://purl.obolibrary.org/obo/MONDO_0020639	monosomy	http://purl.obolibrary.org/obo/MONDO_0700064	aneuploidy		A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.
http://purl.obolibrary.org/obo/MONDO_0020640	autoimmune encephalitis	http://purl.obolibrary.org/obo/MONDO_0019956	encephalitis		Inflammation of the brain secondary to an immune response triggered by the body itself.
http://purl.obolibrary.org/obo/MONDO_0020641	respiratory tract neoplasm	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.
http://purl.obolibrary.org/obo/MONDO_0020669	paranasal sinus cancer	http://purl.obolibrary.org/obo/MONDO_0005289	paranasal sinus neoplasm		A primary or metastatic malignant neoplasm involving the paranasal sinuses.
http://purl.obolibrary.org/obo/MONDO_0020699	biotin metabolic disease	http://purl.obolibrary.org/obo/MONDO_0056803	sulfur metabolism disease		A deficiency in biotin through either inherited or acquired causes.
http://purl.obolibrary.org/obo/MONDO_0021184	deltaretrovirus infections	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).
http://purl.obolibrary.org/obo/MONDO_0027029	HHV-6 encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	viral encephalitis		HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.
http://purl.obolibrary.org/obo/MONDO_0020653	vaginal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0015867	vaginal carcinoma		An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0020586	factor V deficiency	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.
http://purl.obolibrary.org/obo/MONDO_0020583	chromosome 17 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 17 is affected.
http://purl.obolibrary.org/obo/MONDO_0020597	angiokeratoma of scrotum	http://purl.obolibrary.org/obo/MONDO_0003954	angiokeratoma of Fordyce		An angiokeratoma that is located on the scrotum.
http://purl.obolibrary.org/obo/MONDO_0020600	acute pharyngitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.
http://purl.obolibrary.org/obo/MONDO_0020607	Liddle syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008323	Liddle syndrome		Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.
http://purl.obolibrary.org/obo/MONDO_0020634	grade III meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.
http://purl.obolibrary.org/obo/MONDO_0020635	anaplastic meningioma	http://purl.obolibrary.org/obo/MONDO_0020633	anaplastic cancer		A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).
http://purl.obolibrary.org/obo/MONDO_0020638	superficial spreading melanoma	http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma		A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.
http://purl.obolibrary.org/obo/MONDO_0020649	warty carcinoma of the penis	http://purl.obolibrary.org/obo/MONDO_0020656	human papillomavirus-related penile squamous cell carcinoma		A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases.
http://purl.obolibrary.org/obo/MONDO_0020660	osteoblastic osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002631	conventional osteosarcoma		A conventional osteosarcoma characterized by the predominance of osteoid matrix.
http://purl.obolibrary.org/obo/MONDO_0020661	undifferentiated round cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.
http://purl.obolibrary.org/obo/MONDO_0020666	Löfgren syndrome	http://purl.obolibrary.org/obo/MONDO_0019338	sarcoidosis		A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.
http://purl.obolibrary.org/obo/MONDO_0020679	conductive hearing loss disorder	http://purl.obolibrary.org/obo/MONDO_0005365	hearing loss disorder		Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.
http://purl.obolibrary.org/obo/MONDO_0020694	salivary gland epithelial myoepithelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003389	epithelial-myoepithelial carcinoma		A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.
http://purl.obolibrary.org/obo/MONDO_0020695	hypotonic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0006497	cerebral palsy		A type of cerebral palsy characterized by decreased muscle tone.
http://purl.obolibrary.org/obo/MONDO_0020697	lung epithelial-myoepithelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0005138	lung carcinoma		A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.
http://purl.obolibrary.org/obo/MONDO_0020707	central hearing loss	http://purl.obolibrary.org/obo/MONDO_0005365	hearing loss disorder		Hearing loss resulting from disorders of the central nervous system auditory pathways.
http://purl.obolibrary.org/obo/MONDO_0020760	skin squamous cell carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004693	squamous carcinoma in situ		Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion.
http://purl.obolibrary.org/obo/MONDO_0020854	Liddle syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008323	Liddle syndrome		Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.
http://purl.obolibrary.org/obo/MONDO_0020858	mitochondrial complex V (ATP synthase) deficiency, nuclear type 5	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1D gene.
http://purl.obolibrary.org/obo/MONDO_0020979	pilosebaceous hamartoma	http://purl.obolibrary.org/obo/MONDO_0021539	hamartoma of skin appendage		A hamartoma characterized by localized pilosebaceous apparatus malformation.
http://purl.obolibrary.org/obo/MONDO_0021033	herpes zoster dermatitis	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.
http://purl.obolibrary.org/obo/MONDO_0100071	cardiocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation.
http://purl.obolibrary.org/obo/MONDO_0020711	selective peripheral resistance to thyroid hormone	http://purl.obolibrary.org/obo/MONDO_0001328	thyroid hormone resistance syndrome		A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.
http://purl.obolibrary.org/obo/MONDO_0020737	optic atrophy 10 with or without ataxia, intellectual disability, and seizures	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures.
http://purl.obolibrary.org/obo/FOODON_00002645	food material by process	http://purl.obolibrary.org/obo/FOODON_00002403	food material		Food material organized by the process which it results from.
http://purl.obolibrary.org/obo/FOODON_00002655	food (peeled)	http://purl.obolibrary.org/obo/FOODON_00002645	food material by process		Food material which has been peeled.
http://purl.obolibrary.org/obo/MONDO_0100101	fetal akinesia deformation sequence 1	http://purl.obolibrary.org/obo/MONDO_0008824	fetal akinesia deformation sequence		Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.
http://purl.obolibrary.org/obo/MONDO_0100102	fetal akinesia deformation sequence 2	http://purl.obolibrary.org/obo/MONDO_0008824	fetal akinesia deformation sequence		Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.
http://purl.obolibrary.org/obo/MONDO_0100103	fetal akinesia deformation sequence 3	http://purl.obolibrary.org/obo/MONDO_0008824	fetal akinesia deformation sequence		Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.
http://purl.obolibrary.org/obo/MONDO_0100104	fetal akinesia deformation sequence 4	http://purl.obolibrary.org/obo/MONDO_0008824	fetal akinesia deformation sequence		Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.
http://purl.obolibrary.org/obo/MONDO_0100107	non-neonatal early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.
http://purl.obolibrary.org/obo/HP_0033062	Abnormal factor IX activity	http://purl.obolibrary.org/obo/HP_0010989	Abnormality of the intrinsic pathway		Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.
http://purl.obolibrary.org/obo/HP_0033072	Abnormal macroscopic urine appearance	http://purl.obolibrary.org/obo/HP_0003110	Abnormality of urine homeostasis		Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.
http://purl.obolibrary.org/obo/HP_0033079	Aplasia/Hypoplasia of the thyroid gland	http://purl.obolibrary.org/obo/HP_0011772	Abnormal thyroid morphology		Absence or underdevelopment of the thyroid gland.
http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology	http://purl.obolibrary.org/obo/HP_0025015	Abnormal vascular morphology		Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).
http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level	http://purl.obolibrary.org/obo/HP_0003110	Abnormality of urine homeostasis		Any deviation from the normal amount of a metabolite in urine.
http://purl.obolibrary.org/obo/MONDO_0100283	overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.
http://purl.obolibrary.org/obo/MONDO_0100310	hereditary cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Cerebellar ataxia that is transmitted from parent to child.
http://purl.obolibrary.org/obo/MONDO_0100320	post-COVID-19 disorder	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.
http://purl.obolibrary.org/obo/MONDO_0100349	COACH syndrome	http://purl.obolibrary.org/obo/MONDO_0015369	Joubert syndrome and related disorders		A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0600003	bacterial hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0600002	hemorrhagic fever		A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.
http://purl.obolibrary.org/obo/CHEBI_173085	ferroptosis inducer	http://purl.obolibrary.org/obo/CHEBI_52206	biochemical role		Any substance that induces or promotes ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms.
http://purl.obolibrary.org/obo/MONDO_0100431	migraine without aura	http://purl.obolibrary.org/obo/MONDO_0005277	migraine disorder		A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.
http://purl.obolibrary.org/obo/MONDO_0100449	FLVCR1-related retinopathy with or without ataxia	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
http://purl.obolibrary.org/obo/MONDO_0100451	CEP290-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		A ciliopathy caused by biallelic variants in the CEP290 gene.
http://purl.obolibrary.org/obo/MONDO_0100455	neonatal-onset developmental and epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.
http://purl.obolibrary.org/obo/MONDO_0100498	UROD-related inherited porphyria	http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria		Porphyria caused by monoallelic and biallelic variants in UROD and presenting as a spectrum of disease (a semidominant inheritance pattern). Additionally, environmental factors almost always play a role in the disease. Monoallelic variants when exacerbated by environmental factors can result in episodic adult onset of photosensitivity. Biallelic variants that reduce WT enzyme activity <20% cause childhood onset of photosensitivity and sometimes liver damage.
http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.
http://purl.obolibrary.org/obo/HP_0034345	Mendelian inheritance	http://purl.obolibrary.org/obo/HP_0000005	Mode of inheritance		A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel.
http://purl.obolibrary.org/obo/HP_0034353	Appendicular spasticity	http://purl.obolibrary.org/obo/HP_0001257	Spasticity		A type of spasticity that affects one or more limbs (arms or legs).
http://purl.obolibrary.org/obo/HP_0034376	Atrioventricular valve regurgitation	http://purl.obolibrary.org/obo/HP_0031650	Abnormal atrioventricular valve physiology		Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.
http://purl.obolibrary.org/obo/MONDO_0100158	CHRNG-associated hypo-akinesia disorder of prenatal onset	http://purl.obolibrary.org/obo/MONDO_0017415	multiple pterygium syndrome		A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.
http://purl.obolibrary.org/obo/MONDO_0100190	gastric intestinal metaplasia	http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition		Metaplastic changes in the lining of the upper digestive tract.
http://purl.obolibrary.org/obo/MONDO_0100208	self-limited familial neonatal-infantile epilepsy	http://purl.obolibrary.org/obo/MONDO_0800488	neonatal/infantile-onset self-limited epilepsy syndrome		An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.
http://purl.obolibrary.org/obo/MONDO_0100216	DICER1-related tumor predisposition	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.
http://purl.obolibrary.org/obo/MONDO_0700046	baclofen withdrawal syndrome	http://purl.obolibrary.org/obo/MONDO_0005567	substance withdrawal syndrome		Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.
http://purl.obolibrary.org/obo/MONDO_0700047	premenopausal osteoporosis	http://purl.obolibrary.org/obo/MONDO_0005298	osteoporosis		Osteoporosis occurring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.
http://purl.obolibrary.org/obo/MONDO_0700048	hand-foot syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.
http://purl.obolibrary.org/obo/MONDO_0800436	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	http://purl.obolibrary.org/obo/MONDO_0031329	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome		Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.
http://purl.obolibrary.org/obo/MONDO_0800437	Carey-Fineman-Ziter syndrome 1	http://purl.obolibrary.org/obo/MONDO_0031415	Carey-Fineman-Ziter syndrome		A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
http://purl.obolibrary.org/obo/MONDO_0800438	developmental delay with short stature, dysmorphic facial features, and sparse hair 1	http://purl.obolibrary.org/obo/MONDO_0031632	developmental delay with short stature, dysmorphic facial features, and sparse hair		Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene.
http://purl.obolibrary.org/obo/MONDO_0700276	POLR3A-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Disorder in which the cause of disease is a variation in the POLR3A gene.
http://purl.obolibrary.org/obo/MONDO_0700277	POLR3B-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Disorder in which the cause of disease is a variation in the POLR3B gene.
http://purl.obolibrary.org/obo/MONDO_1040035	LRIT3-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the LRIT3 gene.
http://purl.obolibrary.org/obo/MONDO_1040037	IMPG1-related recessive retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by autosomal recessive variants in the IMPG1 gene.
http://purl.obolibrary.org/obo/MONDO_1040038	TTLL5-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the TTLL5 gene.
http://purl.obolibrary.org/obo/MONDO_1040040	HGSNAT-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any isolated retinopathy caused by variants in the HGSNAT gene.
http://purl.obolibrary.org/obo/MONDO_1040042	BBS7-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the BBS7 gene.
http://purl.obolibrary.org/obo/MONDO_1040044	BBS4-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the BBS4 gene.
http://purl.obolibrary.org/obo/MONDO_1040045	BBS12-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the BBS12 gene.
http://purl.obolibrary.org/obo/MONDO_1040046	LZTFL1-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the LZTFL1 gene.
http://purl.obolibrary.org/obo/MONDO_1040047	BBS5-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the BBS5 gene.
http://purl.obolibrary.org/obo/MONDO_1040048	BBS2-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the BBS2 gene.
http://purl.obolibrary.org/obo/CHEBI_131604	Mycoplasma genitalium metabolite	http://purl.obolibrary.org/obo/CHEBI_76969	bacterial metabolite		Any bacterial metabolite produced during a metabolic reaction in <em>Mycoplasma genitalium</em>.
http://purl.obolibrary.org/obo/CHEBI_15705	L-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		Any α-amino acid having <small>L</small>-configuration at the α-carbon.
http://purl.obolibrary.org/obo/CHEBI_16294	barbituric acid	http://purl.obolibrary.org/obo/CHEBI_22693	barbiturates		A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups.  Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active.
http://purl.obolibrary.org/obo/CHEBI_16670	peptide	http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide		Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from α-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc.
http://purl.obolibrary.org/obo/CHEBI_17087	ketone	http://purl.obolibrary.org/obo/CHEBI_36586	carbonyl compound		A compound in which a carbonyl group is bonded to two carbon atoms: R<small><sub>2</sub></small>C=O (neither R may be H).
http://purl.obolibrary.org/obo/CHEBI_22160	acetamides	http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide		Compounds with the general formula RNHC(=O)CH<small><sub>3</sub></small>.
http://purl.obolibrary.org/obo/CHEBI_22315	alkaloid	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is  exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids.
http://purl.obolibrary.org/obo/CHEBI_22586	antioxidant	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides.
http://purl.obolibrary.org/obo/CHEBI_22693	barbiturates	http://purl.obolibrary.org/obo/CHEBI_38337	pyrimidone		Members of the class of pyrimidones consisting of pyrimidine-2,4,6(1<em>H</em>,3<em>H</em>,5<em>H</em>)-trione (barbituric acid) and its derivatives. Largest group of the synthetic sedative/hypnotics, sharing a characteristic six-membered ring structure.
http://purl.obolibrary.org/obo/CHEBI_22712	benzenes	http://purl.obolibrary.org/obo/CHEBI_33836	benzenoid aromatic compound		Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives.
http://purl.obolibrary.org/obo/CHEBI_22723	benzoic acids	http://purl.obolibrary.org/obo/CHEBI_33859	aromatic carboxylic acid		Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group.
http://purl.obolibrary.org/obo/CHEBI_23018	EC 4.2.1.1 (carbonic anhydrase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76907	EC 4.2.1.* (hydro-lyases) inhibitor		An EC 4.2.1.* (hydro-lyases) inhibitor that interferes with the action of carbonic anhydrase (EC 4.2.1.1). Such compounds reduce the secretion of H<small><sup>+</small></sup> ions by the proximal kidney tubule.
http://purl.obolibrary.org/obo/CHEBI_24995	lactam	http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide		Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring.
http://purl.obolibrary.org/obo/CHEBI_25212	metabolite	http://purl.obolibrary.org/obo/CHEBI_52206	biochemical role		Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites.
http://purl.obolibrary.org/obo/CHEBI_25248	methyl ester	http://purl.obolibrary.org/obo/CHEBI_33308	carboxylic ester		Any carboxylic ester resulting from the formal condensation of a carboxy group with methanol.
http://purl.obolibrary.org/obo/CHEBI_25340	methylpyridines	http://purl.obolibrary.org/obo/CHEBI_26421	pyridines		Any member of the class of pyridines that carries at least one methyl substituent.
http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		An oxoacid containing a single carboxy group.
http://purl.obolibrary.org/obo/CHEBI_25697	organic cation	http://purl.obolibrary.org/obo/CHEBI_36916	cation		Any organic ion with a net positive charge.
http://purl.obolibrary.org/obo/CHEBI_25985	phenylalanine derivative	http://purl.obolibrary.org/obo/CHEBI_83821	amino-acid derivative		An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine  by a heteroatom. The definition normally excludes peptides containing phenylalanine  residues.
http://purl.obolibrary.org/obo/CHEBI_26421	pyridines	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives.
http://purl.obolibrary.org/obo/CHEBI_26878	tertiary alcohol	http://purl.obolibrary.org/obo/CHEBI_30879	alcohol		A tertiary alcohol is a compound in which a hydroxy group, ‒OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it.
http://purl.obolibrary.org/obo/CHEBI_26979	organic heterotricyclic compound	http://purl.obolibrary.org/obo/CHEBI_36688	heterotricyclic compound		An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms.
http://purl.obolibrary.org/obo/CHEBI_29347	monocarboxylic acid amide	http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide		A carboxamide derived from a monocarboxylic acid.
http://purl.obolibrary.org/obo/CHEBI_32877	primary amine	http://purl.obolibrary.org/obo/CHEBI_50994	primary amino compound		A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group.
http://purl.obolibrary.org/obo/CHEBI_33229	vitamin (role)	http://purl.obolibrary.org/obo/CHEBI_27027	micronutrient		A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from <em>vita</em> + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines.
http://purl.obolibrary.org/obo/CHEBI_33281	antimicrobial agent	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans.
http://purl.obolibrary.org/obo/CHEBI_33282	antibacterial agent	http://purl.obolibrary.org/obo/CHEBI_33281	antimicrobial agent		A substance (or active part thereof) that kills or slows the growth of bacteria.
http://purl.obolibrary.org/obo/CHEBI_33308	carboxylic ester	http://purl.obolibrary.org/obo/CHEBI_35701	ester		An ester of a carboxylic acid, R<small><sup>1</small></sup>C(=O)OR<small><sup>2</small></sup>, where R<small><sup>1</small></sup> = H or organyl and R<small><sup>2</small></sup> = organyl.
http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion	http://purl.obolibrary.org/obo/CHEBI_37022	amino-acid anion		An amino-acid anion obtained by deprotonation of any α-amino acid.
http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_35605	carbon oxoacid		A carbon oxoacid acid carrying at least one ‒C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid.
http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_33709	amino acid		An amino acid in which the amino group is located on the carbon atom at the position α to the carboxy group.
http://purl.obolibrary.org/obo/CHEBI_33833	heteroarene	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		A heterocyclic compound formally derived from an arene by replacement of one or more methine (‒C=) and/or vinylene (‒CH=CH‒) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous π-electron system characteristic of aromatic systems and a number of out-of-plane π-electrons corresponding to the Hückel rule (4<em>n</em>+2).
http://purl.obolibrary.org/obo/CHEBI_33853	phenols	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring.
http://purl.obolibrary.org/obo/CHEBI_33859	aromatic carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring.
http://purl.obolibrary.org/obo/CHEBI_33860	aromatic amine	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		An amino compound in which the amino group is linked directly to an aromatic system.
http://purl.obolibrary.org/obo/CHEBI_35221	antimetabolite	http://purl.obolibrary.org/obo/CHEBI_52206	biochemical role		A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization.
http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative	http://purl.obolibrary.org/obo/CHEBI_33702	polyatomic cation		A derivative of ammonium, NH<small><sub>4</sub></small><small><sup>+</small></sup>, in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc).
http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound	http://purl.obolibrary.org/obo/CHEBI_51143	nitrogen molecular entity		Any heteroorganic entity containing at least one carbon-nitrogen bond.
http://purl.obolibrary.org/obo/CHEBI_35358	sulfonamide	http://purl.obolibrary.org/obo/CHEBI_33256	primary amide		An amide of a sulfonic acid RS(=O)<small><sub>2</sub></small>NR'<small><sub>2</sub></small>.
http://purl.obolibrary.org/obo/CHEBI_35366	fatty acid	http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid		Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. By extension, the term is sometimes used to embrace all acyclic aliphatic carboxylic acids.
http://purl.obolibrary.org/obo/CHEBI_35441	antiinfective agent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A substance used in the prophylaxis or therapy of infectious diseases.
http://purl.obolibrary.org/obo/CHEBI_35470	central nervous system drug	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system.
http://purl.obolibrary.org/obo/CHEBI_35471	psychotropic drug	http://purl.obolibrary.org/obo/CHEBI_35470	central nervous system drug		A loosely defined grouping of drugs that have effects on psychological function.
http://purl.obolibrary.org/obo/CHEBI_35472	anti-inflammatory drug	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A substance that reduces or suppresses inflammation.
http://purl.obolibrary.org/obo/CHEBI_35475	non-steroidal anti-inflammatory drug	http://purl.obolibrary.org/obo/CHEBI_35842	antirheumatic drug		An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins.
http://purl.obolibrary.org/obo/CHEBI_35480	analgesic	http://purl.obolibrary.org/obo/CHEBI_52210	pharmacological role		An agent capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms.
http://purl.obolibrary.org/obo/CHEBI_35488	central nervous system depressant	http://purl.obolibrary.org/obo/CHEBI_35470	central nervous system drug		A loosely defined group of drugs that tend to reduce the activity of the central nervous system.
http://purl.obolibrary.org/obo/CHEBI_35489	organic disulfide	http://purl.obolibrary.org/obo/CHEBI_48343	disulfide		Compounds of structure RSSR in which R and R' are organic groups.
http://purl.obolibrary.org/obo/CHEBI_35498	diuretic	http://purl.obolibrary.org/obo/CHEBI_23888	drug		An agent that promotes the excretion of urine through its effects on kidney function.
http://purl.obolibrary.org/obo/CHEBI_35610	antineoplastic agent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A substance that inhibits or prevents the proliferation of neoplasms.
http://purl.obolibrary.org/obo/CHEBI_35618	aromatic ether	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		Any ether in which the oxygen is attached to at least one aryl substituent.
http://purl.obolibrary.org/obo/CHEBI_35620	vasodilator agent	http://purl.obolibrary.org/obo/CHEBI_35554	cardiovascular drug		A drug used to cause dilation of the blood vessels.
http://purl.obolibrary.org/obo/CHEBI_35623	anticonvulsant	http://purl.obolibrary.org/obo/CHEBI_35488	central nervous system depressant		A drug used to prevent seizures or reduce their severity.
http://purl.obolibrary.org/obo/CHEBI_35681	secondary alcohol	http://purl.obolibrary.org/obo/CHEBI_30879	alcohol		A secondary alcohol is a compound in which a hydroxy group, ‒OH, is attached to a saturated carbon atom which has two other carbon atoms attached to it.
http://purl.obolibrary.org/obo/CHEBI_35703	xenobiotic	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		A xenobiotic (Greek, <em>xenos</em> "foreign"; <em>bios</em> "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means.
http://purl.obolibrary.org/obo/CHEBI_35718	antifungal agent	http://purl.obolibrary.org/obo/CHEBI_33281	antimicrobial agent		An  antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce.
http://purl.obolibrary.org/obo/CHEBI_36047	antibacterial drug	http://purl.obolibrary.org/obo/CHEBI_36043	antimicrobial drug		A drug used to treat or prevent bacterial infections.
http://purl.obolibrary.org/obo/CHEBI_36586	carbonyl compound	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives.
http://purl.obolibrary.org/obo/CHEBI_36683	organochlorine compound	http://purl.obolibrary.org/obo/CHEBI_23117	chlorine molecular entity		An organochlorine compound is a compound containing at least one carbon-chlorine bond.
http://purl.obolibrary.org/obo/CHEBI_36820	ring assembly	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		Two or more cyclic systems (single rings or fused systems) which are directly joined to each other by double or single bonds are named ring assemblies when the number of such direct ring junctions is one less than the number of cyclic systems involved.
http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound	http://purl.obolibrary.org/obo/CHEBI_36962	organochalcogen compound		An organochalcogen compound containing at least one carbon-oxygen bond.
http://purl.obolibrary.org/obo/CHEBI_37581	gamma-lactone	http://purl.obolibrary.org/obo/CHEBI_25000	lactone		A lactone having a five-membered lactone ring.
http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide	http://purl.obolibrary.org/obo/CHEBI_33256	primary amide		An amide of a carboxylic acid, having the structure RC(=O)NR<small><sub>2</sub></small>. The term is used as a suffix in systematic name formation to denote the ‒C(=O)NH<small><sub>2</sub></small> group including its carbon atom.
http://purl.obolibrary.org/obo/CHEBI_38092	cardenolide glycoside	http://purl.obolibrary.org/obo/CHEBI_83970	cardiac glycoside		Any member of the class of cardenolides with glycosyl residues attached to position 3.
http://purl.obolibrary.org/obo/CHEBI_38104	oxacycle	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		Any organic heterocyclic compound containing at least one ring oxygen atom.
http://purl.obolibrary.org/obo/CHEBI_38976	alkylbenzene	http://purl.obolibrary.org/obo/CHEBI_33847	monocyclic arene		A  monocyclic arene that is benzene substituted with one or more alkyl groups.
http://purl.obolibrary.org/obo/CHEBI_39447	pyrimidines	http://purl.obolibrary.org/obo/CHEBI_38313	diazines		Any compound having a pyrimidine as part of its structure.
http://purl.obolibrary.org/obo/CHEBI_48901	thiazoles	http://purl.obolibrary.org/obo/CHEBI_68452	azole		An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom.
http://purl.obolibrary.org/obo/CHEBI_49167	anti-asthmatic drug	http://purl.obolibrary.org/obo/CHEBI_65023	anti-asthmatic agent		A drug used to treat asthma.
http://purl.obolibrary.org/obo/CHEBI_50176	keratolytic drug	http://purl.obolibrary.org/obo/CHEBI_50177	dermatologic drug		A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases.
http://purl.obolibrary.org/obo/CHEBI_50183	P450 inhibitor	http://purl.obolibrary.org/obo/CHEBI_76898	EC 1.14.14.1 (unspecific monooxygenase) inhibitor		An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances.
http://purl.obolibrary.org/obo/CHEBI_50249	anticoagulant	http://purl.obolibrary.org/obo/CHEBI_50248	hematologic agent		An agent that prevents blood clotting.
http://purl.obolibrary.org/obo/CHEBI_50267	protective agent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent.
http://purl.obolibrary.org/obo/CHEBI_50511	bipyridines	http://purl.obolibrary.org/obo/CHEBI_64459	biaryl		Compounds containing a bipyridine group.
http://purl.obolibrary.org/obo/CHEBI_50514	vasoconstrictor agent	http://purl.obolibrary.org/obo/CHEBI_35554	cardiovascular drug		Drug used to cause constriction of the blood vessels.
http://purl.obolibrary.org/obo/CHEBI_50629	cyclooxygenase 2 inhibitor	http://purl.obolibrary.org/obo/CHEBI_35544	EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor		A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2.
http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity	http://purl.obolibrary.org/obo/CHEBI_33582	carbon group molecular entity		Any molecular entity that contains carbon.
http://purl.obolibrary.org/obo/CHEBI_50903	carcinogenic agent	http://purl.obolibrary.org/obo/CHEBI_52209	aetiopathogenetic role		A role played by a chemical compound which is known to  induce a process of carcinogenesis  by corrupting  normal cellular pathways, leading to the acquistion of tumoral capabilities.
http://purl.obolibrary.org/obo/CHEBI_50995	secondary amino compound	http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound		A compound formally derived from ammonia by replacing two hydrogen atoms by organyl groups.
http://purl.obolibrary.org/obo/CHEBI_50996	tertiary amino compound	http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound		A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups.
http://purl.obolibrary.org/obo/CHEBI_51689	enone	http://purl.obolibrary.org/obo/CHEBI_51721	alpha,beta-unsaturated ketone		An α,β-unsaturated ketone of general formula R<small><sup>1</small></sup>R<small><sup>2</small></sup>C=CR<small><sup>3</small></sup>‒C(=O)R<small><sup>4</small></sup> (R<small><sup>4</small></sup> ≠ H) in which the C=O function is conjugated to a C=C double bond at the α,β position.
http://purl.obolibrary.org/obo/CHEBI_52214	ligand	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		Any molecule or ion capable of binding to a central metal atom to form coordination complexes.
http://purl.obolibrary.org/obo/CHEBI_59517	DNA synthesis inhibitor	http://purl.obolibrary.org/obo/CHEBI_76932	pathway inhibitor		Any substance that inhibits the synthesis of DNA.
http://purl.obolibrary.org/obo/CHEBI_60027	polymer	http://purl.obolibrary.org/obo/CHEBI_60004	mixture		A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc..
http://purl.obolibrary.org/obo/CHEBI_60911	racemate	http://purl.obolibrary.org/obo/CHEBI_60004	mixture		A racemate is an equimolar mixture of a pair of enantiomers.
http://purl.obolibrary.org/obo/CHEBI_61655	steroid saponin	http://purl.obolibrary.org/obo/CHEBI_26605	saponin		Any saponin derived from a hydroxysteroid.
http://purl.obolibrary.org/obo/CHEBI_64459	biaryl	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		An organic aromatic compound whose structure contains two aromatic rings or ring systems, joined to each other by a single bond.
http://purl.obolibrary.org/obo/CHEBI_65023	anti-asthmatic agent	http://purl.obolibrary.org/obo/CHEBI_33232	application		Any compound that has anti-asthmatic effects.
http://purl.obolibrary.org/obo/CHEBI_75767	animal metabolite	http://purl.obolibrary.org/obo/CHEBI_75763	eukaryotic metabolite		Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals.
http://purl.obolibrary.org/obo/CHEBI_75771	mouse metabolite	http://purl.obolibrary.org/obo/CHEBI_75768	mammalian metabolite		Any mammalian metabolite produced during a metabolic reaction in a mouse (<em>Mus musculus</em>).
http://purl.obolibrary.org/obo/CHEBI_76924	plant metabolite	http://purl.obolibrary.org/obo/CHEBI_75763	eukaryotic metabolite		Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms.
http://purl.obolibrary.org/obo/CHEBI_76946	fungal metabolite	http://purl.obolibrary.org/obo/CHEBI_75763	eukaryotic metabolite		Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds.
http://purl.obolibrary.org/obo/CHEBI_76971	Escherichia coli metabolite	http://purl.obolibrary.org/obo/CHEBI_76969	bacterial metabolite		Any bacterial metabolite produced during a metabolic reaction in <em>Escherichia coli</em>.
http://purl.obolibrary.org/obo/CHEBI_78298	environmental contaminant	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		Any minor or unwanted substance introduced into the environment that can have undesired effects.
http://purl.obolibrary.org/obo/CHEBI_78840	olefinic compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		Any organic molecular entity that contains at least one C=C bond.
http://purl.obolibrary.org/obo/CHEBI_83925	non-proteinogenic alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		Any  α-amino acid which is not a member of the group of 23 proteinogenic amino acids.
http://purl.obolibrary.org/obo/CHEBI_88188	drug allergen	http://purl.obolibrary.org/obo/CHEBI_23888	drug		Any drug which causes the onset of an allergic reaction.
http://purl.obolibrary.org/obo/CHEBI_16150	benzoate	http://purl.obolibrary.org/obo/CHEBI_22718	benzoates		The simplest member of the class of  benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1.
http://purl.obolibrary.org/obo/CHEBI_23354	coenzyme	http://purl.obolibrary.org/obo/CHEBI_23357	cofactor		A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons.
http://purl.obolibrary.org/obo/CHEBI_26401	purines	http://purl.obolibrary.org/obo/CHEBI_35875	imidazopyrimidine		A class of imidazopyrimidines that consists of purine and its substituted derivatives.
http://purl.obolibrary.org/obo/CHEBI_27314	water-soluble vitamin (role)	http://purl.obolibrary.org/obo/CHEBI_33229	vitamin (role)		Any vitamin that dissolves in water and readily absorbed into tissues for immediate use. Unlike the fat-soluble vitamins, they are not stored in the body and need to be replenished regularly in the diet and will rarely accumulate to toxic levels since they are quickly excreted from the body via urine.
http://purl.obolibrary.org/obo/CHEBI_30742	ethylene glycol	http://purl.obolibrary.org/obo/CHEBI_23976	ethanediol		A 1,2-glycol compound produced via reaction of ethylene oxide with water.
http://purl.obolibrary.org/obo/CHEBI_33654	alicyclic compound	http://purl.obolibrary.org/obo/CHEBI_33653	aliphatic compound		An aliphatic compound having a carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system.
http://purl.obolibrary.org/obo/CHEBI_33655	aromatic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekulé structure) is said to possess aromatic character.
http://purl.obolibrary.org/obo/CHEBI_35692	dicarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		Any carboxylic acid containing two carboxy groups.
http://purl.obolibrary.org/obo/CHEBI_50994	primary amino compound	http://purl.obolibrary.org/obo/CHEBI_50047	organic amino compound		A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group.
http://purl.obolibrary.org/obo/CHEBI_64577	flour treatment agent	http://purl.obolibrary.org/obo/CHEBI_64047	food additive		A food additive which is added to flour or dough to improve baking quality and/or colour.
http://purl.obolibrary.org/obo/CHEBI_64996	EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76837	EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor		A lipoxygenase inhibitor that interferes with the action of arachidonate 15-lipoxygenase (EC 1.13.11.33).
http://purl.obolibrary.org/obo/CHEBI_65001	EC 3.1.1.3 (triacylglycerol lipase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76773	EC 3.1.1.* (carboxylic ester hydrolase) inhibitor		Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of triacylglycerol lipase (EC 3.1.1.3).
http://purl.obolibrary.org/obo/CHEBI_65256	antimicrobial food preservative	http://purl.obolibrary.org/obo/CHEBI_33281	antimicrobial agent		A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299).
http://purl.obolibrary.org/obo/CHEBI_75763	eukaryotic metabolite	http://purl.obolibrary.org/obo/CHEBI_25212	metabolite		Any  metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms.
http://purl.obolibrary.org/obo/CHEBI_76969	bacterial metabolite	http://purl.obolibrary.org/obo/CHEBI_75787	prokaryotic metabolite		Any prokaryotic metabolite produced during a metabolic reaction in bacteria.
http://purl.obolibrary.org/obo/CHEBI_79020	alpha,beta-unsaturated monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid		A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C≡C bond.
http://purl.obolibrary.org/obo/CHEBI_84735	algal metabolite	http://purl.obolibrary.org/obo/CHEBI_75763	eukaryotic metabolite		Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae.
http://purl.obolibrary.org/obo/CHEBI_17761	ceramide	http://purl.obolibrary.org/obo/CHEBI_26739	sphingolipid		Ceramides (<em>N</em>-acyl-sphingoid bases) are a major subclass of sphingoid base derivatives with an amide-linked fatty acid. The fatty acids are typically saturated or monounsaturated with chain lengths from 14 to 26 carbon atoms; the presence of a hydroxyl group on carbon 2 is fairly common. Ceramides are generally precursors of more complex sphingolipids. In the illustrated generalised structure, R<small><sup>1</small></sup> = OH, OX (where X = acyl, glycosyl, phosphate, phosphonate, etc.), or H.
http://purl.obolibrary.org/obo/CHEBI_25435	mutagen	http://purl.obolibrary.org/obo/CHEBI_50902	genotoxin		An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution.
http://purl.obolibrary.org/obo/CHEBI_26895	tetracyclines	http://purl.obolibrary.org/obo/CHEBI_26188	polyketide		A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups.
http://purl.obolibrary.org/obo/CHEBI_33497	transition element molecular entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		A molecular entity containing one or more atoms of a transition element.
http://purl.obolibrary.org/obo/CHEBI_35442	antiparasitic agent	http://purl.obolibrary.org/obo/CHEBI_35441	antiinfective agent		A substance used to treat or prevent parasitic infections.
http://purl.obolibrary.org/obo/CHEBI_53000	epitope	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds.
http://purl.obolibrary.org/obo/CHEBI_12777	vitamin A	http://purl.obolibrary.org/obo/CHEBI_26537	retinoid		Any member of a group of fat-soluble retinoids produced via metabolism of provitamin A carotenoids that exhibit biological activity against vitamin A deficiency. Vitamin A is involved in immune function, vision, reproduction, and cellular communication.
http://purl.obolibrary.org/obo/CHEBI_18133	hexose	http://purl.obolibrary.org/obo/CHEBI_35381	monosaccharide		Any six-carbon monosaccharide which in its linear form contains either an aldehyde group at position 1 (aldohexose) or a ketone group at position 2 (ketohexose).
http://purl.obolibrary.org/obo/CHEBI_24020	fat-soluble vitamin (role)	http://purl.obolibrary.org/obo/CHEBI_33229	vitamin (role)		Any vitamin that dissolves in fats and are stored in body tissues. Unlike the water-soluble vitamins, they are stored in the body for long periods of time and generally pose a greater risk for toxicity when consumed in excess.
http://purl.obolibrary.org/obo/CHEBI_26537	retinoid	http://purl.obolibrary.org/obo/CHEBI_23849	diterpenoid		Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof.
http://purl.obolibrary.org/obo/CHEBI_27177	L-tyrosine derivative	http://purl.obolibrary.org/obo/CHEBI_84144	L-phenylalanine derivative		A proteinogenic amino acid derivative resulting from reaction of <small>L</small>-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of <small>L</small>-tyrosine by a heteroatom.
http://purl.obolibrary.org/obo/CHEBI_30751	formic acid	http://purl.obolibrary.org/obo/CHEBI_25384	monocarboxylic acid		The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects.
http://purl.obolibrary.org/obo/CHEBI_35381	monosaccharide	http://purl.obolibrary.org/obo/CHEBI_16646	carbohydrate		Parent monosaccharides are polyhydroxy aldehydes H[CH(OH)]<small><sub><em>n</em></sub></small>C(=O)H or polyhydroxy ketones H‒[CHOH]<small><sub><em>n</em></sub></small>‒C(=O)[CHOH]<small><sub><em>m</em></sub></small>‒H with three or more carbon atoms. The generic term 'monosaccharide' (as opposed to oligosaccharide or polysaccharide) denotes a single unit, without glycosidic connection to other such units. It includes aldoses, dialdoses, aldoketoses, ketoses and diketoses, as well as deoxy sugars, provided that the parent compound has a (potential) carbonyl group.
http://purl.obolibrary.org/obo/CHEBI_35523	bronchodilator agent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		An agent that causes an increase in the expansion of a bronchus or bronchial tubes.
http://purl.obolibrary.org/obo/CHEBI_35640	adrenergic uptake inhibitor	http://purl.obolibrary.org/obo/CHEBI_37962	adrenergic agent		Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin.
http://purl.obolibrary.org/obo/CHEBI_38070	anti-arrhythmia drug	http://purl.obolibrary.org/obo/CHEBI_35554	cardiovascular drug		A drug used for the treatment or prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres.
http://purl.obolibrary.org/obo/CHEBI_84124	D-tyrosine derivative	http://purl.obolibrary.org/obo/CHEBI_83812	non-proteinogenic amino acid derivative		A non-proteinogenic amino acid derivative resulting from reaction of <small>D</small>-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of <small>D</small>-tyrosine by a heteroatom.
http://purl.obolibrary.org/obo/CHEBI_15966	D-glutamic acid	http://purl.obolibrary.org/obo/CHEBI_16733	D-alpha-amino acid		An optically active form of glutamic acid having <small>D</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_16015	L-glutamic acid	http://purl.obolibrary.org/obo/CHEBI_83813	proteinogenic amino acid		An optically active form of glutamic acid having <small>L</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_16541	protein polypeptide chain	http://purl.obolibrary.org/obo/CHEBI_15841	polypeptide		A naturally occurring polypeptide synthesized at the ribosome.
http://purl.obolibrary.org/obo/CHEBI_16705	6-aminopenicillanic acid	http://purl.obolibrary.org/obo/CHEBI_25865	penicillanic acids		A penicillanic acid compound having a (6<i>R</i>)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics.
http://purl.obolibrary.org/obo/CHEBI_23976	ethanediol	http://purl.obolibrary.org/obo/CHEBI_23824	diol		Any diol that is ethane or substituted ethane carrying two hydroxy groups.
http://purl.obolibrary.org/obo/CHEBI_24261	glucocorticoid	http://purl.obolibrary.org/obo/CHEBI_36699	corticosteroid hormone		Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood.
http://purl.obolibrary.org/obo/CHEBI_24318	glutamine family amino acid	http://purl.obolibrary.org/obo/CHEBI_83813	proteinogenic amino acid		An <small>L</small>-α-amino acid which is <small>L</small>-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class.
http://purl.obolibrary.org/obo/CHEBI_24669	hydroxy carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		Any carboxylic acid with at least one hydroxy group.
http://purl.obolibrary.org/obo/CHEBI_24996	lactate	http://purl.obolibrary.org/obo/CHEBI_36059	hydroxy monocarboxylic acid anion		A hydroxy monocarboxylic acid anion that is the conjugate base of lactic acid, arising from deprotonation of the carboxy group.
http://purl.obolibrary.org/obo/CHEBI_25354	mineralocorticoid	http://purl.obolibrary.org/obo/CHEBI_36699	corticosteroid hormone		Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism.
http://purl.obolibrary.org/obo/CHEBI_25388	monohydroxybenzoate	http://purl.obolibrary.org/obo/CHEBI_24675	hydroxybenzoate		A hydroxybenzoate carrying a single hydroxy substituent at unspecified position.
http://purl.obolibrary.org/obo/CHEBI_26078	phosphoric acid	http://purl.obolibrary.org/obo/CHEBI_59698	phosphoric acids		A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom.
http://purl.obolibrary.org/obo/CHEBI_26743	sphing-4-enine	http://purl.obolibrary.org/obo/CHEBI_46964	2-aminooctadec-4-ene-1,3-diol		A sphingenine in which the C=C double bond is located at the 4-position.
http://purl.obolibrary.org/obo/CHEBI_27266	valine	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the α-carbon is substituted by an isopropyl group.
http://purl.obolibrary.org/obo/CHEBI_27306	vitamin B6	http://purl.obolibrary.org/obo/CHEBI_26421	pyridines		Any member of the group of pyridines that exhibit biological activity against vitamin B<small><sub>6</sub></small> deficiency. Vitamin B<small><sub>6</sub></small> deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B<small><sub>6</sub></small> consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).
http://purl.obolibrary.org/obo/CHEBI_28044	phenylalanine	http://purl.obolibrary.org/obo/CHEBI_33704	alpha-amino acid		An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group.
http://purl.obolibrary.org/obo/CHEBI_28938	ammonium	http://purl.obolibrary.org/obo/CHEBI_50313	onium cation		An onium cation obtained by protonation of ammonia.
http://purl.obolibrary.org/obo/CHEBI_29988	L-glutamate(2-)	http://purl.obolibrary.org/obo/CHEBI_59814	L-alpha-amino acid anion		An <small>L</small>-α-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of <small>L</small>-glutamic acid.
http://purl.obolibrary.org/obo/CHEBI_30411	cobalamin	http://purl.obolibrary.org/obo/CHEBI_23334	cobalamins		A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified.
http://purl.obolibrary.org/obo/CHEBI_30860	methylmalonic acid	http://purl.obolibrary.org/obo/CHEBI_66873	C4-dicarboxylic acid		A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
http://purl.obolibrary.org/obo/CHEBI_32494	D-phenylalaninate	http://purl.obolibrary.org/obo/CHEBI_32504	phenylalaninate		The <small>D</small>-enantiomer of phenylalaninate.
http://purl.obolibrary.org/obo/CHEBI_32495	D-phenylalaninium	http://purl.obolibrary.org/obo/CHEBI_32505	phenylalaninium		An optically active form of phenylalaninium having <small>D</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_33256	primary amide	http://purl.obolibrary.org/obo/CHEBI_32988	amide		A derivative of an oxoacid R<small><sub><em>k</em></sub></small>E(=O)<small><sub><em>l</em></sub></small>(OH)<small><sub><em>m</em></sub></small> (<em>l</em> ≠ 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group.
http://purl.obolibrary.org/obo/CHEBI_33287	fertilizer	http://purl.obolibrary.org/obo/CHEBI_33286	agrochemical		A fertilizer is any substance that is added to soil or water to assist the growth of plants.
http://purl.obolibrary.org/obo/CHEBI_33295	diagnostic agent	http://purl.obolibrary.org/obo/CHEBI_52217	pharmaceutical		A substance administered to aid diagnosis of a disease.
http://purl.obolibrary.org/obo/CHEBI_33405	hydracid	http://purl.obolibrary.org/obo/CHEBI_33608	hydrogen molecular entity		A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons).
http://purl.obolibrary.org/obo/CHEBI_33457	phosphorus oxoacid	http://purl.obolibrary.org/obo/CHEBI_33408	pnictogen oxoacid		A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons.
http://purl.obolibrary.org/obo/CHEBI_33576	sulfur-containing carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		Any carboxylic acid having a sulfur substituent.
http://purl.obolibrary.org/obo/CHEBI_33837	conjugated protein	http://purl.obolibrary.org/obo/CHEBI_36080	protein		Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion.
http://purl.obolibrary.org/obo/CHEBI_33839	macromolecule	http://purl.obolibrary.org/obo/CHEBI_36357	polyatomic entity		A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.
http://purl.obolibrary.org/obo/CHEBI_35230	fossil fuel	http://purl.obolibrary.org/obo/CHEBI_33292	fuel		A fuel such as coal, oil and natural gas which has formed over many years through the decomposition of deposited vegetation which was under extreme pressure of an overburden of earth.
http://purl.obolibrary.org/obo/CHEBI_35701	ester	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		A compound formally derived from an oxoacid R<small><sub><em>k</em></sub></small>E(=O)<small><sub><em>l</em></sub></small>(OH)<small><sub><em>m</em></sub></small> (<em>l</em> > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter.
http://purl.obolibrary.org/obo/CHEBI_36043	antimicrobial drug	http://purl.obolibrary.org/obo/CHEBI_35441	antiinfective agent		A drug used to treat or prevent microbial infections.
http://purl.obolibrary.org/obo/CHEBI_37395	mucopolysaccharide	http://purl.obolibrary.org/obo/CHEBI_18085	glycosaminoglycan		Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid.
http://purl.obolibrary.org/obo/CHEBI_37848	plant hormone	http://purl.obolibrary.org/obo/CHEBI_24621	hormone		A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds.
http://purl.obolibrary.org/obo/CHEBI_37962	adrenergic agent	http://purl.obolibrary.org/obo/CHEBI_35942	neurotransmitter agent		Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter.
http://purl.obolibrary.org/obo/CHEBI_38182	monohydroxypyridine	http://purl.obolibrary.org/obo/CHEBI_24745	hydroxypyridine		A hydroxypyridine carrying a single hydroxy substituent.
http://purl.obolibrary.org/obo/CHEBI_38196	hydroxymethylpyridine	http://purl.obolibrary.org/obo/CHEBI_26421	pyridines		Any member of the class of  pyridines carrying a hydroxymethyl substituent at unspecified position.
http://purl.obolibrary.org/obo/CHEBI_422	(S)-lactic acid	http://purl.obolibrary.org/obo/CHEBI_78320	2-hydroxypropanoic acid		An optically active form of lactic acid having (<i>S</i>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_46787	solvent	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		A liquid that can dissolve other substances (solutes) without any change in their chemical composition.
http://purl.obolibrary.org/obo/CHEBI_46967	L-erythro-sphingosine	http://purl.obolibrary.org/obo/CHEBI_46965	(2R,3S)-2-aminooctadec-4-ene-1,3-diol		A (2<i>R</i>,3<i>S</i>)-2-aminooctadec-4-ene-1,3-diol in which the double bond has <i>E</i> geochemistry.
http://purl.obolibrary.org/obo/CHEBI_48219	disinfectant	http://purl.obolibrary.org/obo/CHEBI_33281	antimicrobial agent		An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity.
http://purl.obolibrary.org/obo/CHEBI_48354	polar solvent	http://purl.obolibrary.org/obo/CHEBI_46787	solvent		A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds.
http://purl.obolibrary.org/obo/CHEBI_48407	antiparkinson drug	http://purl.obolibrary.org/obo/CHEBI_66956	antidyskinesia agent		A drug used in the treatment of Parkinson's disease.
http://purl.obolibrary.org/obo/CHEBI_48560	dopaminergic agent	http://purl.obolibrary.org/obo/CHEBI_35942	neurotransmitter agent		A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons.
http://purl.obolibrary.org/obo/CHEBI_49168	dopa	http://purl.obolibrary.org/obo/CHEBI_83925	non-proteinogenic alpha-amino acid		A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring.
http://purl.obolibrary.org/obo/CHEBI_49169	D-dopa	http://purl.obolibrary.org/obo/CHEBI_49168	dopa		The <small>D</small>-enantiomer of dopa.
http://purl.obolibrary.org/obo/CHEBI_50248	hematologic agent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		Drug that acts on blood and blood-forming organs and those that affect the hemostatic system.
http://purl.obolibrary.org/obo/CHEBI_50584	alkyl alcohol	http://purl.obolibrary.org/obo/CHEBI_2571	aliphatic alcohol		An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position.
http://purl.obolibrary.org/obo/CHEBI_51570	biotins	http://purl.obolibrary.org/obo/CHEBI_38297	thiabicycloalkane		Compounds containing a biotin (5-[(3a<i>S</i>,4<i>S</i>,6a<i>R</i>)-2-oxohexahydro-1<em>H</em>-thieno[3,4-<em>d</em>]imidazol-4-yl]pentanoic acid) skeleton.
http://purl.obolibrary.org/obo/CHEBI_57504	L-dopa zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of <small>L</small>-dopa. Major microspecies at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_57586	biotinate	http://purl.obolibrary.org/obo/CHEBI_35757	monocarboxylic acid anion		Conjugate base of biotin arising from deprotonation of the carboxy group.
http://purl.obolibrary.org/obo/CHEBI_57652	chondroitin D-glucuronate anion	http://purl.obolibrary.org/obo/CHEBI_61469	polyanionic polymer		Anionic form of chondroitin <small>D</small>-glucuronate arising from deprotonation of the carboxylic acid groups of the repeating units; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_57718	barbiturate(2-)	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		Dianion of barbituric acid arising from deprotonation at the N-1 and C-5 positions.
http://purl.obolibrary.org/obo/CHEBI_57756	sphingosine(1+)	http://purl.obolibrary.org/obo/CHEBI_84410	sphingoid base(1+)		The cationic sphingoid resulting from the protonation of the amino group of sphingosine.
http://purl.obolibrary.org/obo/CHEBI_57869	6-aminopenicillanic acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_57934	psychosine(1+)	http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative		The ammonium ion resulting from the protonation of the amino group of psychosine.
http://purl.obolibrary.org/obo/CHEBI_57977	bilirubin(2-)	http://purl.obolibrary.org/obo/CHEBI_59252	linear tetrapyrrole anion		A dicarboxylic acid dianion obtained by deprotonation of the two carboxy groups of bilirubin; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_57981	D-phenylalanine zwitterion	http://purl.obolibrary.org/obo/CHEBI_59871	D-alpha-amino acid zwitterion		A <small>D</small>-α-amino acid zwitterion that is <small>D</small>-phenylalanine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_57986	riboflavin(1-)	http://purl.obolibrary.org/obo/CHEBI_60531	flavin(1-)		An organic anion that is the conjugate base of riboflavin resulting from the removal of a proton from the nitrogen at position 3 (between the two carbonyl groups). Major microspecies at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_59871	D-alpha-amino acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		Zwitterionic form of a <small>D</small>-α-amino acid having an anionic carboxy group and a protonated amino group.
http://purl.obolibrary.org/obo/CHEBI_60832	tubulin modulator	http://purl.obolibrary.org/obo/CHEBI_52210	pharmacological role		Any substance that interacts with tubulin to inhibit or promote polymerisation of microtubules.
http://purl.obolibrary.org/obo/CHEBI_60895	D-alpha-amino acid anion	http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion		Any α-amino acid anion in which the parent amino acid has <small>D</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_61951	microtubule-destabilising agent	http://purl.obolibrary.org/obo/CHEBI_60832	tubulin modulator		Any substance that interacts with tubulin to inhibit polymerisation of microtubules.
http://purl.obolibrary.org/obo/CHEBI_62215	allelochemical	http://purl.obolibrary.org/obo/CHEBI_25212	metabolite		A class of secondary metabolites developed by many plants to influence the behaviour, growth or survival of herbivores, and thus acting as a defence against herbivory.
http://purl.obolibrary.org/obo/CHEBI_63332	EC 3.1.3.1 (alkaline phosphatase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76775	EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor		An EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor that interferes with the action of alkaline phosphatase (EC 3.1.3.1).
http://purl.obolibrary.org/obo/CHEBI_64600	C21-steroid hormone	http://purl.obolibrary.org/obo/CHEBI_61313	C21-steroid		A steroid compound with a structure based on a 21-carbon (pregnane) skeleton that acts as a hormone.
http://purl.obolibrary.org/obo/CHEBI_66956	antidyskinesia agent	http://purl.obolibrary.org/obo/CHEBI_23888	drug		Any compound which can be used to treat or alleviate the symptoms of dyskinesia.
http://purl.obolibrary.org/obo/CHEBI_67012	L-dopa(1-)	http://purl.obolibrary.org/obo/CHEBI_59814	L-alpha-amino acid anion		A <small>L</small>-α-amino acid anion which is the conjugate base of <small>L</small>-dopa, obtained by deprotonation of the carboxy group: major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_72813	exopolysaccharide	http://purl.obolibrary.org/obo/CHEBI_33694	biomacromolecule		A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment.
http://purl.obolibrary.org/obo/CHEBI_73181	EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_75381	EC 1.11.1.* (peroxidases) inhibitor		An  EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of <small>L</small>-ascorbate peroxidase (EC 1.11.1.11).
http://purl.obolibrary.org/obo/CHEBI_73690	erythrose 4-phosphate/phosphoenolpyruvate family amino acid	http://purl.obolibrary.org/obo/CHEBI_83813	proteinogenic amino acid		An <small>L</small>-α-amino acid which is biosynthesised from erythrose 4-phosphate and phosphoenolpyruvate (i.e. phenylalanine, tyrosine, and tryptophan). A closed class.
http://purl.obolibrary.org/obo/CHEBI_77182	food colouring	http://purl.obolibrary.org/obo/CHEBI_64047	food additive		A food additive that imparts colour to food. In European countries, E-numbers for permitted food colours are from E 100 to E 199, divided into yellows (E 100-109), oranges (E 110-119), reds (E 120-129), blues and violets (E 130-139), greens (E 140-149), browns and blacks (E 150-159), and others (E 160-199).
http://purl.obolibrary.org/obo/CHEBI_77938	barbiturate(1-)	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		An organic anion obtained by removal of one of the methylene protons from barbituric acid. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.).
http://purl.obolibrary.org/obo/CHEBI_78017	food propellant	http://purl.obolibrary.org/obo/CHEBI_76414	propellant		A propellant that is used to expel foods from an aerosol container.
http://purl.obolibrary.org/obo/CHEBI_78295	food component	http://purl.obolibrary.org/obo/CHEBI_52211	physiological role		A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants.
http://purl.obolibrary.org/obo/CHEBI_78320	2-hydroxypropanoic acid	http://purl.obolibrary.org/obo/CHEBI_49302	2-hydroxy monocarboxylic acid		A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the α-hydrogens is replaced by a hydroxy group.
http://purl.obolibrary.org/obo/CHEBI_78433	refrigerant	http://purl.obolibrary.org/obo/CHEBI_33232	application		A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure.
http://purl.obolibrary.org/obo/CHEBI_78616	carbohydrates and carbohydrate derivatives	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula C<small><sub><em>m</em></sub></small>(H<small><sub>2</sub></small>O)<small><sub><em>n</em></sub></small>; carbohydrate derivatives may contain other elements by substitution or condensation.
http://purl.obolibrary.org/obo/CHEBI_79387	trivalent inorganic anion	http://purl.obolibrary.org/obo/CHEBI_24834	inorganic anion		Any inorganic anion with a valency of three.
http://purl.obolibrary.org/obo/CHEBI_79389	monovalent inorganic anion	http://purl.obolibrary.org/obo/CHEBI_24834	inorganic anion		Any inorganic anion with a valency of one.
http://purl.obolibrary.org/obo/CHEBI_83038	Daphnia galeata metabolite	http://purl.obolibrary.org/obo/CHEBI_83057	Daphnia metabolite		A <em>Daphnia</em> metabolite produced by the species <em>Daphnia galeata</em>.
http://purl.obolibrary.org/obo/CHEBI_83813	proteinogenic amino acid	http://purl.obolibrary.org/obo/CHEBI_33709	amino acid		Any of the 23 α-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and <em>N</em>-formylmethionine. Apart from glycine, which is non-chiral, all have <small>L</small> configuration.
http://purl.obolibrary.org/obo/CHEBI_85638	haloacetate(1-)	http://purl.obolibrary.org/obo/CHEBI_35757	monocarboxylic acid anion		A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid.
http://purl.obolibrary.org/obo/CHEBI_1722	3beta-hydroxy-Delta(5)-steroid	http://purl.obolibrary.org/obo/CHEBI_36836	3beta-hydroxy steroid		Any 3β-hydroxy-steroid that contains a double bond between positions 5 and 6.
http://purl.obolibrary.org/obo/CHEBI_22492	amino aldehyde	http://purl.obolibrary.org/obo/CHEBI_17478	aldehyde		Any aldehyde which contains an amino group.
http://purl.obolibrary.org/obo/CHEBI_22695	base	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Brønsted base) or with the vacant orbital of some other molecular entity (Lewis base).
http://purl.obolibrary.org/obo/CHEBI_23117	chlorine molecular entity	http://purl.obolibrary.org/obo/CHEBI_24471	halogen molecular entity		A halogen molecular entity containing one or more atoms of chlorine.
http://purl.obolibrary.org/obo/CHEBI_23482	cyclohexanones	http://purl.obolibrary.org/obo/CHEBI_36132	alicyclic ketone		Any alicyclic ketone based on a cyclohexane skeleton and its substituted derivatives thereof.
http://purl.obolibrary.org/obo/CHEBI_24612	homocystines	http://purl.obolibrary.org/obo/CHEBI_83925	non-proteinogenic alpha-amino acid		A non-proteinogenic α-amino acid obtained by oxidative dimerisation of homocysteine and its derivatives.
http://purl.obolibrary.org/obo/CHEBI_24632	hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_33245	organic fundamental parent		A compound consisting of carbon and hydrogen only.
http://purl.obolibrary.org/obo/CHEBI_26739	sphingolipid	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone.
http://purl.obolibrary.org/obo/CHEBI_26948	vitamin B1	http://purl.obolibrary.org/obo/CHEBI_63048	1,3-thiazolium cation		Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B<small><sub>1</sub></small> deficiency in animals. Symptoms of vitamin B<small><sub>1</sub></small> deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B<small><sub>1</sub></small> deficiency can also lead to a disease known as <a href="https://en.wikipedia.org/wiki/Thiamine_deficiency" target="_blank">beriberi</a>. Vitamin B<small><sub>1</sub></small> consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms).
http://purl.obolibrary.org/obo/CHEBI_27226	uric acid	http://purl.obolibrary.org/obo/CHEBI_25810	oxopurine		An oxopurine that is the final oxidation product of purine metabolism.
http://purl.obolibrary.org/obo/CHEBI_28479	D-tyrosine	http://purl.obolibrary.org/obo/CHEBI_16733	D-alpha-amino acid		An optically active form of tyrosine having <small>D</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_28829	aminophenol	http://purl.obolibrary.org/obo/CHEBI_48975	substituted aniline		A substituted aniline carrying a hydroxy substituent. A 'closed class'.
http://purl.obolibrary.org/obo/CHEBI_30861	methylmalonate(1-)	http://purl.obolibrary.org/obo/CHEBI_35695	dicarboxylic acid monoanion		A dicarboxylic acid monoanion resulting from the removal of a proton from one of the carboxylic acid groups of methylmalonic acid.
http://purl.obolibrary.org/obo/CHEBI_32486	L-phenylalaninate	http://purl.obolibrary.org/obo/CHEBI_32504	phenylalaninate		An optically active form of phenylalaninate having <small>L</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_32487	L-phenylalaninium	http://purl.obolibrary.org/obo/CHEBI_32505	phenylalaninium		An optically active form of phenylalaninium having <small>L</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_32760	L-tyrosinate(1-)	http://purl.obolibrary.org/obo/CHEBI_32784	tyrosinate(1-)		An optically active form of tyrosinate having <small>L</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_32762	L-tyrosinium	http://purl.obolibrary.org/obo/CHEBI_32786	tyrosinium		An optically active form of tyrosinium having <small>L</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_32784	tyrosinate(1-)	http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion		An α-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group.
http://purl.obolibrary.org/obo/CHEBI_32786	tyrosinium	http://purl.obolibrary.org/obo/CHEBI_33719	alpha-amino-acid cation		An α-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group.
http://purl.obolibrary.org/obo/CHEBI_33292	fuel	http://purl.obolibrary.org/obo/CHEBI_33232	application		An energy-rich substance that can be transformed with release of usable energy.
http://purl.obolibrary.org/obo/CHEBI_33653	aliphatic compound	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds.
http://purl.obolibrary.org/obo/CHEBI_33694	biomacromolecule	http://purl.obolibrary.org/obo/CHEBI_33839	macromolecule		A macromolecule formed by a living organism.
http://purl.obolibrary.org/obo/CHEBI_33917	aldohexose	http://purl.obolibrary.org/obo/CHEBI_18133	hexose		A hexose with a (potential) aldehyde group at one end.
http://purl.obolibrary.org/obo/CHEBI_35544	EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76840	EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor		A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes.
http://purl.obolibrary.org/obo/CHEBI_35604	carbon oxoanion	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		A negative ion consisting solely of carbon and oxygen  atoms, and therefore having the general formula C<small><sub><em>x</em></sub></small>O<small><sub><em>y</em></sub></small><small><sup><em>n</em>−</small></sup> for some integers <em>x</em>, <em>y</em> and <em>n</em>.
http://purl.obolibrary.org/obo/CHEBI_35780	phosphate ion	http://purl.obolibrary.org/obo/CHEBI_33461	phosphorus oxoanion		A phosphorus oxoanion that is the conjugate base of phosphoric acid.
http://purl.obolibrary.org/obo/CHEBI_37323	7,8-dimethylisoalloxazine	http://purl.obolibrary.org/obo/CHEBI_37324	7,8-dimethylbenzo[g]pteridine-2,4-dione		A 7,8-dimethylbenzo[<em>g</em>]pteridine-2,4-dione that is  isoalloxazine substituted by methyl groups at positions 7 and 8.
http://purl.obolibrary.org/obo/CHEBI_37397	chondroitin sulfate	http://purl.obolibrary.org/obo/CHEBI_35722	sulfated glycosaminoglycan		Any of a class of 10—60 kDa glycosaminoglycan sulfates, widely distributed in cartilage and other mammalian connective tissues.
http://purl.obolibrary.org/obo/CHEBI_37578	halide	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements.
http://purl.obolibrary.org/obo/CHEBI_38147	cardiotonic drug	http://purl.obolibrary.org/obo/CHEBI_35554	cardiovascular drug		A drug that has a strengthening effect on the heart or that can increase cardiac output.
http://purl.obolibrary.org/obo/CHEBI_38500	EC 1.9.3.1 (cytochrome c oxidase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_25355	mitochondrial respiratory-chain inhibitor		An EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor that interferes with the action of cytochrome <em>c</em> oxidase (EC 1.9.3.1).
http://purl.obolibrary.org/obo/CHEBI_43474	hydrogenphosphate	http://purl.obolibrary.org/obo/CHEBI_35780	phosphate ion		A phosphate ion that is the conjugate base of dihydrogenphosphate.
http://purl.obolibrary.org/obo/CHEBI_47867	indicator	http://purl.obolibrary.org/obo/CHEBI_33232	application		Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc.
http://purl.obolibrary.org/obo/CHEBI_48873	cholinergic antagonist	http://purl.obolibrary.org/obo/CHEBI_38323	cholinergic drug		Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists.
http://purl.obolibrary.org/obo/CHEBI_48878	nicotinic antagonist	http://purl.obolibrary.org/obo/CHEBI_48873	cholinergic antagonist		An antagonist at the nicotinic cholinergic receptor.
http://purl.obolibrary.org/obo/CHEBI_50846	immunomodulator	http://purl.obolibrary.org/obo/CHEBI_23888	drug		Biologically active substance whose activity affects or plays a role in the functioning of the immune system.
http://purl.obolibrary.org/obo/CHEBI_50908	hepatotoxic agent	http://purl.obolibrary.org/obo/CHEBI_52209	aetiopathogenetic role		A role played by a chemical compound exhibiting itself through the ability to induce damage to the liver in animals.
http://purl.obolibrary.org/obo/CHEBI_51356	penicillinate anion	http://purl.obolibrary.org/obo/CHEBI_47811	penamcarboxylate		Any anion formed by loss of a proton from the carboxy group of a penicillin.
http://purl.obolibrary.org/obo/CHEBI_52090	methoxide	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		An organic anion that is the conjugate base of methanol.
http://purl.obolibrary.org/obo/CHEBI_55323	antidiarrhoeal drug	http://purl.obolibrary.org/obo/CHEBI_55324	gastrointestinal drug		Any drug found useful in the symptomatic treatment of diarrhoea.
http://purl.obolibrary.org/obo/CHEBI_58072	carbon monoxide(1+)	http://purl.obolibrary.org/obo/CHEBI_25697	organic cation		Conjugate acid of carbon monoxide arising from protonation of the carbon; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_58095	L-phenylalanine zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of <small>L</small>-phenylalanine; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_58163	homocystine zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		Dizwitterionic form of homocystine arising from transfer of two protons from the carboxy to the amino groups; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_58315	L-tyrosine zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of <small>L</small>-tyrosine; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_589779	piperidinium	http://purl.obolibrary.org/obo/CHEBI_137419	secondary ammonium ion		The conjugate acid of piperidine; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_597326	pyridoxal 5'-phosphate(2-)	http://purl.obolibrary.org/obo/CHEBI_176894	vitamin B6 phosphate anion		The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate.
http://purl.obolibrary.org/obo/CHEBI_60924	keratan sulfate	http://purl.obolibrary.org/obo/CHEBI_35722	sulfated glycosaminoglycan		A sulfated glycosaminoglycan, a linear polymer that consists of the repeating disaccharide  [3)-β-Gal-(1→4)-β-GlcNAc-(1→] and containing sulfo groups located at random positions.
http://purl.obolibrary.org/obo/CHEBI_62803	fuel additive	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		Any additive that enhances the efficiency of fuel.
http://purl.obolibrary.org/obo/CHEBI_63510	EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76895	EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor		An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that interferes with the action of  <em>Na</em><small><sup>+</small></sup>/<em>K</em><small><sup>+</small></sup>-transporting ATPase (EC 3.6.3.9).
http://purl.obolibrary.org/obo/CHEBI_64416	EC 1.3.1.43 (arogenate dehydrogenase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76857	EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor		An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD<small><sup>+</small></sup> or NADP<small><sup>+</small></sup> as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43).
http://purl.obolibrary.org/obo/CHEBI_78113	fatty acid anion 3:0	http://purl.obolibrary.org/obo/CHEBI_58951	short-chain fatty acid anion		Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_83821	amino-acid derivative	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues.
http://purl.obolibrary.org/obo/CHEBI_30501	beryllium atom	http://purl.obolibrary.org/obo/CHEBI_88184	metal allergen		Alkaline earth metal atom with atomic number 4.
http://purl.obolibrary.org/obo/CHEBI_30563	silicon dioxide	http://purl.obolibrary.org/obo/CHEBI_33327	silicon oxide		A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens.
http://purl.obolibrary.org/obo/CHEBI_30985	4,4'-bipyridine	http://purl.obolibrary.org/obo/CHEBI_35545	bipyridine		A  bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'.
http://purl.obolibrary.org/obo/CHEBI_50691	abortifacient	http://purl.obolibrary.org/obo/CHEBI_50689	reproductive control drug		A chemical substance that interrupts pregnancy after implantation.
http://purl.obolibrary.org/obo/CHEBI_59560	sapropterin	http://purl.obolibrary.org/obo/CHEBI_15372	5,6,7,8-tetrahydrobiopterin		A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3<em>H</em>)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6<i>R</i>,1'<i>R</i>,2'<i>S</i>-enantiomer).
http://purl.obolibrary.org/obo/CHEBI_60531	flavin(1-)	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		Flavin protonated to pH 7.3
http://purl.obolibrary.org/obo/CHEBI_73263	cyclooxygenase 3 inhibitor	http://purl.obolibrary.org/obo/CHEBI_35544	EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor		A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 3.
http://purl.obolibrary.org/obo/CHEBI_32761	L-tyrosinate(2-)	http://purl.obolibrary.org/obo/CHEBI_32785	tyrosinate(2-)		The <small>L</small>-enantiomer of tyrosinate(2−).
http://purl.obolibrary.org/obo/CHEBI_32774	D-tyrosinate(2-)	http://purl.obolibrary.org/obo/CHEBI_32785	tyrosinate(2-)		The <small>D</small>-enantiomer of tyrosinate(2−).
http://purl.obolibrary.org/obo/CHEBI_33233	fundamental particle	http://purl.obolibrary.org/obo/CHEBI_36342	subatomic particle		A particle not known to have substructure.
http://purl.obolibrary.org/obo/CHEBI_33273	polyatomic anion	http://purl.obolibrary.org/obo/CHEBI_36358	polyatomic ion		An anion consisting of more than one atom.
http://purl.obolibrary.org/obo/CHEBI_33290	food	http://purl.obolibrary.org/obo/CHEBI_52211	physiological role		A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life.
http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table.
http://purl.obolibrary.org/obo/CHEBI_33583	noble gas molecular entity	http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity		A main group molecular entity containing one or more atoms of any noble gas.
http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound	http://purl.obolibrary.org/obo/CHEBI_25367	molecule		Any molecule that consists of a series of atoms joined together to form a ring.
http://purl.obolibrary.org/obo/CHEBI_33597	homocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		A cyclic compound having as ring members atoms of the same element only.
http://purl.obolibrary.org/obo/CHEBI_33636	bicyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		A molecule that features two fused rings.
http://purl.obolibrary.org/obo/CHEBI_33637	ortho-fused compound	http://purl.obolibrary.org/obo/CHEBI_35293	fused compound		A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have <em>n</em> common faces and 2<em>n</em> common atoms.
http://purl.obolibrary.org/obo/CHEBI_33662	annulene	http://purl.obolibrary.org/obo/CHEBI_33664	monocyclic hydrocarbon		A mancude monocyclic hydrocarbon without side chains of the general formula C<small><sub><em>n</em></sub></small>H<small><sub><em>n</em></sub></small> (<em>n</em> is an even number) or C<small><sub><em>n</em></sub></small>H<small><sub><em>n</em>+1</sub></small> (<em>n</em> is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [<em>n</em>]annulene, where <em>n</em> is the number of carbon atoms.
http://purl.obolibrary.org/obo/CHEBI_33671	heteropolycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33635	polycyclic compound		A polycyclic compound in which at least one of the rings contains at least one non-carbon atom.
http://purl.obolibrary.org/obo/CHEBI_33674	s-block molecular entity	http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity		An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element.
http://purl.obolibrary.org/obo/CHEBI_33676	d-block molecular entity	http://purl.obolibrary.org/obo/CHEBI_33497	transition element molecular entity		A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element.
http://purl.obolibrary.org/obo/CHEBI_33692	hydrides	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		Hydrides are chemical compounds of hydrogen with other chemical elements.
http://purl.obolibrary.org/obo/CHEBI_33710	alpha-amino-acid residue	http://purl.obolibrary.org/obo/CHEBI_33708	amino-acid residue		An amino-acid residue derived from an α-amino acid.
http://purl.obolibrary.org/obo/CHEBI_33847	monocyclic arene	http://purl.obolibrary.org/obo/CHEBI_33658	arene		A monocyclic aromatic hydrocarbon.
http://purl.obolibrary.org/obo/CHEBI_33848	polycyclic arene	http://purl.obolibrary.org/obo/CHEBI_33666	polycyclic hydrocarbon		A polycyclic aromatic hydrocarbon.
http://purl.obolibrary.org/obo/CHEBI_35293	fused compound	http://purl.obolibrary.org/obo/CHEBI_33635	polycyclic compound		A polycyclic compound that contains more than one ring with at least two common atoms (also known as bridgehead carbons) that are adjacent to each other.
http://purl.obolibrary.org/obo/CHEBI_35297	acene	http://purl.obolibrary.org/obo/CHEBI_51269	acenes		A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement.
http://purl.obolibrary.org/obo/CHEBI_36339	baryon	http://purl.obolibrary.org/obo/CHEBI_36344	hadron		Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek βαρυσ (heavy).
http://purl.obolibrary.org/obo/CHEBI_36347	nuclear particle	http://purl.obolibrary.org/obo/CHEBI_36342	subatomic particle		A nucleus or any of its constituents in any of their energy states.
http://purl.obolibrary.org/obo/CHEBI_52211	physiological role	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		A biological role relating to the normal mechanisms and their interactions within a living system.
http://purl.obolibrary.org/obo/CHEBI_64709	organic acid	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		Any organic molecular entity that is acidic and contains carbon in covalent linkage.
http://purl.obolibrary.org/obo/CHEBI_76042	aromatic amino-acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid.
http://purl.obolibrary.org/obo/CHEBI_91007	aromatic carboxylate	http://purl.obolibrary.org/obo/CHEBI_29067	carboxylic acid anion		A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_46661	asbestos	http://purl.obolibrary.org/obo/CHEBI_46663	silicate mineral		Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements.
http://purl.obolibrary.org/obo/CHEBI_48359	protophilic solvent	http://purl.obolibrary.org/obo/CHEBI_48354	polar solvent		Solvent that is capable of acting as a hydron (proton) acceptor.
http://purl.obolibrary.org/obo/CHEBI_48377	imidic acid	http://purl.obolibrary.org/obo/CHEBI_33241	oxoacid derivative		Compounds derived from oxoacids R<small><sub><em>k</em></sub></small>E(=O)<small><sub><em>l</em></sub></small>(OH)<small><sub><em>m</em></sub></small> (<em>l</em> ≠ 0) by replacing =O by =NR; thus tautomers of amides. In organic chemistry an unspecified imidic acid is generally a carboximidic acid, RC(=NR)(OH).
http://purl.obolibrary.org/obo/CHEBI_48379	isourea	http://purl.obolibrary.org/obo/CHEBI_48378	carboximidic acid		A carboximidic acid that is the imidic acid tautomer of urea, H<small><sub>2</sub></small>NC(=NH)OH, and its hydrocarbyl derivatives.
http://purl.obolibrary.org/obo/CHEBI_50404	lipoprotein cholesterol	http://purl.obolibrary.org/obo/CHEBI_50401	cholestanoid		Cholesterol esters and free cholesterol which are contained in or bound to lipoproteins.
http://purl.obolibrary.org/obo/CHEBI_59999	chemical substance	http://purl.obolibrary.org/obo/CHEBI_24431	chemical entity		A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types.
http://purl.obolibrary.org/obo/CHEBI_77956	L-erythro-sphingosine(1+)	http://purl.obolibrary.org/obo/CHEBI_83876	cationic sphingoid		A cationic sphingoid resulting from the protonation of the amino group of <small>L</small>-<i>erythro</i>-sphingosine; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_51721	alpha,beta-unsaturated ketone	http://purl.obolibrary.org/obo/CHEBI_17087	ketone		A ketone of general formula R<small><sup>1</small></sup>R<small><sup>2</small></sup>C=CR<small><sup>3</small></sup>‒C(=O)R<small><sup>4</small></sup> (R<small><sup>4</small></sup> ≠ H) or R<small><sup>1</small></sup>C≡C‒C(=O)R<small><sup>2</small></sup> (R<small><sup>2</small></sup> ≠ H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the α,β position.
http://purl.obolibrary.org/obo/CHEBI_52254	apatite	http://purl.obolibrary.org/obo/CHEBI_46723	phosphate mineral		A phosphate mineral with the general formula Ca<small><sub>5</sub></small>(PO<small><sub>4</sub></small>)<small><sub>3</sub></small>X where X = OH, F or Cl.
http://purl.obolibrary.org/obo/CHEBI_52255	hydroxylapatite	http://purl.obolibrary.org/obo/CHEBI_52254	apatite		A phosphate mineral with the formula Ca<small><sub>5</sub></small>(PO<small><sub>4</sub></small>)<small><sub>3</sub></small>(OH).
http://purl.obolibrary.org/obo/CHEBI_52395	oxyketone	http://purl.obolibrary.org/obo/CHEBI_17087	ketone		A compound with the general formula R<small><sub>2</sub></small>C=O (R≠H) where one or more of the R groups contains an oxy (‒O‒) group.
http://purl.obolibrary.org/obo/CHEBI_53309	polyanionic macromolecule	http://purl.obolibrary.org/obo/CHEBI_53368	ionic macromolecule		A polymer carrying multiple negative charges.
http://purl.obolibrary.org/obo/CHEBI_53368	ionic macromolecule	http://purl.obolibrary.org/obo/CHEBI_33839	macromolecule		A macromolecule containing ionic groups.
http://purl.obolibrary.org/obo/CHEBI_78505	venom	http://purl.obolibrary.org/obo/CHEBI_27026	toxin		A toxin used by animals and injected into their victims by a bite or sting.
http://purl.obolibrary.org/obo/HP_0004032	Abnormal olecranon morphology	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		Any structural abnormality of the olecranon, a bony eminence of the proximal ulna.
http://purl.obolibrary.org/obo/HP_0004039	Abnormal ulnar metaphysis morphology	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.
http://purl.obolibrary.org/obo/HP_0004243	Abnormal scaphoid morphology	http://purl.obolibrary.org/obo/HP_0001191	Abnormal carpal morphology		Any structural anomaly of the scaphoid. The scaphoid is the largest bone of the proximal row of carpal bones. It is located on the same side as the thumb.
http://purl.obolibrary.org/obo/HP_0004248	Abnormal lunate bone morphology	http://purl.obolibrary.org/obo/HP_0001191	Abnormal carpal morphology		Any structural anomaly of the lunate bone, which is located in the proximal row of carpal bones.
http://purl.obolibrary.org/obo/HP_0004352	Abnormal circulating purine concentration	http://purl.obolibrary.org/obo/HP_0010932	Abnormal circulating nucleobase concentration		Any deviation from the normal concentration of a purine in the blood circulation.
http://purl.obolibrary.org/obo/HP_0004756	Ventricular tachycardia	http://purl.obolibrary.org/obo/HP_0001649	Tachycardia		A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
http://purl.obolibrary.org/obo/HP_0004905	Reduced circulating vitamin A concentration	http://purl.obolibrary.org/obo/HP_0008372	Abnormal circulating vitamin A concentration		Concentration of vitamin A below the lower limit of normal in the blood circulation.
http://purl.obolibrary.org/obo/HP_0005019	Diaphyseal undertubulation	http://purl.obolibrary.org/obo/HP_0000940	Abnormal diaphysis morphology		Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.
http://purl.obolibrary.org/obo/HP_0005145	Coronary artery stenosis	http://purl.obolibrary.org/obo/HP_0006704	Abnormal coronary artery morphology		Abnormal narrowing of the coronary artery.
http://purl.obolibrary.org/obo/HP_0005156	Hypoplastic left atrium	http://purl.obolibrary.org/obo/HP_0025579	Abnormal left atrium morphology		Underdeveloped, small left heart atrium
http://purl.obolibrary.org/obo/HP_0005217	Abdominal organ duplication	http://purl.obolibrary.org/obo/HP_0001438	Abnormal abdomen morphology		A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen.
http://purl.obolibrary.org/obo/HP_0005311	Agenesis of pulmonary vessels	http://purl.obolibrary.org/obo/HP_0004930	Abnormality of the pulmonary vasculature		A developmental defect characterized by the lack of formation of the pulmonary blood vessels.
http://purl.obolibrary.org/obo/HP_0005344	Abnormal carotid artery morphology	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.
http://purl.obolibrary.org/obo/HP_0005345	Abnormal vena cava morphology	http://purl.obolibrary.org/obo/HP_0030962	Abnormal morphology of the great vessels		An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.
http://purl.obolibrary.org/obo/HP_0005422	Absence of CD8-positive T cells	http://purl.obolibrary.org/obo/HP_0005415	Decreased CD8+ T cell proportion		Lack of detectible CD8-positive T cells
http://purl.obolibrary.org/obo/HP_0006381	Rudimentary fibula	http://purl.obolibrary.org/obo/HP_0003038	Fibular hypoplasia		Absent or nearly absent fibula. (Does not include aplastic)
http://purl.obolibrary.org/obo/HP_0006500	Abnormal lower limb epiphysis morphology	http://purl.obolibrary.org/obo/HP_0006505	Abnormal limb epiphysis morphology		An anomaly of one or more epiphyses of one or both legs.
http://purl.obolibrary.org/obo/HP_0007054	Proximal hyperreflexia	http://purl.obolibrary.org/obo/HP_0001347	Hyperreflexia		Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).
http://purl.obolibrary.org/obo/HP_0007343	Abnormal morphology of the limbic system	http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology		Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].
http://purl.obolibrary.org/obo/HP_0007350	Upper limb hyperreflexia	http://purl.obolibrary.org/obo/HP_0001347	Hyperreflexia		Increased intensity of the a reflex in the arm.
http://purl.obolibrary.org/obo/HP_0007626	Mandibular osteomyelitis	http://purl.obolibrary.org/obo/HP_0002754	Osteomyelitis		Osteomyelitis of the lower jaw.
http://purl.obolibrary.org/obo/HP_0007980	Absent retinal pigment epithelium	http://purl.obolibrary.org/obo/HP_0007894	Fundus hypopigmentation		Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent.
http://purl.obolibrary.org/obo/HP_0008372	Abnormal circulating vitamin A concentration	http://purl.obolibrary.org/obo/HP_0100508	Abnormality of vitamin metabolism		Concentration of vitamin A in the blood circulation outside limits of normal.
http://purl.obolibrary.org/obo/HP_0008455	Dysplastic sacrum	http://purl.obolibrary.org/obo/HP_0005107	Abnormal sacrum morphology		A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.
http://purl.obolibrary.org/obo/HP_0008633	Agonadism	http://purl.obolibrary.org/obo/HP_0000812	Abnormal internal genitalia		Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).
http://purl.obolibrary.org/obo/HP_0008760	Violent behavior	http://purl.obolibrary.org/obo/HP_0000718	Aggressive behavior		Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.
http://purl.obolibrary.org/obo/HP_0008763	No social interaction	http://purl.obolibrary.org/obo/HP_5200024	Abnormal relationship		Lack of intentional participation in interactions with another person.
http://purl.obolibrary.org/obo/HP_0008817	Aplastic pubic bone	http://purl.obolibrary.org/obo/HP_0009104	Aplasia/Hypoplasia of the pubic bone		A developmental defect characterized by lack of development of the pubis bone.
http://purl.obolibrary.org/obo/HP_0009545	Second finger symphalangism	http://purl.obolibrary.org/obo/HP_0009541	Abnormality of the phalanges of the 2nd finger		Congenital bony fusion of two adjacent phalanges of the second finger.
http://purl.obolibrary.org/obo/HP_0009894	Thickened ears	http://purl.obolibrary.org/obo/HP_0000377	Abnormal pinna morphology		Increased thickness of the external ear.
http://purl.obolibrary.org/obo/HP_0010134	Pseudoepiphysis of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux		A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe.
http://purl.obolibrary.org/obo/HP_0010200	Proximal toe symphalangism	http://purl.obolibrary.org/obo/HP_0100264	Proximal symphalangism		Bony fusion at the proximal interphalangeal joint of a toe other than the hallux (end-to-end fusion of the proximal and medial phalanx of a toe).
http://purl.obolibrary.org/obo/HP_0010253	Pseudoepiphyses of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
http://purl.obolibrary.org/obo/HP_0010264	Pseudoepiphyses of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
http://purl.obolibrary.org/obo/HP_0010365	Third toe symphalangism	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		Fusion of an interphalangeal joint of the third toe.
http://purl.obolibrary.org/obo/HP_0010377	Fourth toe symphalangism	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		Fusion of an interphalangeal joint of the fourth toe.
http://purl.obolibrary.org/obo/HP_0010389	Fifth toe symphalangism	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		Fusion of an interphalangeal joint of the fifth (little) toe.
http://purl.obolibrary.org/obo/HP_0010401	Proximal 2nd toe symphalangism	http://purl.obolibrary.org/obo/HP_0010358	Abnormal morphology of the proximal phalanx of the 2nd toe		Bony fusion of the middle and proximal phalanges of the second toe.
http://purl.obolibrary.org/obo/HP_0010419	Distal 2nd toe symphalangism	http://purl.obolibrary.org/obo/HP_0010356	Abnormality of the distal phalanx of the 2nd toe		Bony fusion at the distal interphalangeal joint of the second toe (end-to-end fusion of the medial and distal phalanx of the second toe).
http://purl.obolibrary.org/obo/HP_0010524	Disturbed sensory perception	http://purl.obolibrary.org/obo/HP_5200204	Disturbed perception with a stimulus		Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.
http://purl.obolibrary.org/obo/HP_0010525	Finger agnosia	http://purl.obolibrary.org/obo/HP_0010524	Disturbed sensory perception		The examiner identified the inability to name, move, or touch specific fingers.
http://purl.obolibrary.org/obo/HP_0010527	Astereognosis	http://purl.obolibrary.org/obo/HP_5200406	Tactile agnosia		Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.
http://purl.obolibrary.org/obo/HP_0010528	Prosopagnosia	http://purl.obolibrary.org/obo/HP_0010524	Disturbed sensory perception		Inability to recognize faces of familiar persons.
http://purl.obolibrary.org/obo/HP_0012143	Abnormal megakaryocyte morphology	http://purl.obolibrary.org/obo/HP_0005561	Abnormal bone marrow cell morphology		Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.
http://purl.obolibrary.org/obo/HP_0012144	Abnormal monocyte morphology	http://purl.obolibrary.org/obo/HP_0010974	Abnormal myeloid leukocyte morphology		Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
http://purl.obolibrary.org/obo/HP_0100118	Pseudoepiphysis of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe		A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe.
http://purl.obolibrary.org/obo/HP_0100129	Pseudoepiphysis of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe		A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe.
http://purl.obolibrary.org/obo/HP_0100164	Pseudoepiphysis of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe		A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe.
http://purl.obolibrary.org/obo/HP_0100187	Pseudoepiphysis of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe		A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe.
http://purl.obolibrary.org/obo/HP_0100198	Pseudoepiphysis of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe		A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe.
http://purl.obolibrary.org/obo/HP_0100220	Pseudoepiphysis of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe		A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe.
http://purl.obolibrary.org/obo/HP_0100231	Pseudoepiphysis of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe		A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe.
http://purl.obolibrary.org/obo/HP_0100276	Skin pit	http://purl.obolibrary.org/obo/HP_0011355	Localized skin lesion		A small, skin-lined tract that leads from the surface to deep within the tissues.
http://purl.obolibrary.org/obo/HP_0100293	Hypertrophied muscle fibers	http://purl.obolibrary.org/obo/HP_0004303	Abnormal muscle fiber morphology		The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies.
http://purl.obolibrary.org/obo/HP_0100524	Limb duplication	http://purl.obolibrary.org/obo/HP_0002813	Abnormal limb bone morphology		Congenital duplication of all or part of a limb.
http://purl.obolibrary.org/obo/HP_0100710	Impulsivity	http://purl.obolibrary.org/obo/HP_0000734	Disinhibition		Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.
http://purl.obolibrary.org/obo/HP_0100734	Abnormal vertebral epiphysis morphology	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		An anomaly of one or more epiphyses of one or more vertebrae.
http://purl.obolibrary.org/obo/HP_0100783	Breast aplasia	http://purl.obolibrary.org/obo/HP_0010311	Aplasia/Hypoplasia of the breasts		Failure to develop and congenital absence of the breast.
http://purl.obolibrary.org/obo/HP_0200000	Dysharmonic skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927	Abnormality of skeletal maturation		Different levels of maturation of different bones.
http://purl.obolibrary.org/obo/HP_0030669	Abnormal ocular adnexa morphology	http://purl.obolibrary.org/obo/HP_0032039	Abnormality of the ocular adnexa		A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
http://purl.obolibrary.org/obo/HP_0040202	Abnormal consumption behavior	http://purl.obolibrary.org/obo/HP_5200241	Recurrent maladaptive behavior		Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.
http://purl.obolibrary.org/obo/SO_0001785	structural_alteration	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		An alteration of the genome that leads to a change in the structure of one or more chromosomes.
http://purl.obolibrary.org/obo/HP_0025057	Abnormal olfactory lobe morphology	http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology		A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.
http://purl.obolibrary.org/obo/HP_0025085	Bloody diarrhea	http://purl.obolibrary.org/obo/HP_0002014	Diarrhea		Passage of many stools containing blood.
http://purl.obolibrary.org/obo/HP_0025155	Abnormal hepatobiliary system physiology	http://purl.obolibrary.org/obo/HP_0025032	Abnormality of digestive system physiology		A functional anomaly of the hepatobiliary system
http://purl.obolibrary.org/obo/HP_0025270	Abnormal esophagus physiology	http://purl.obolibrary.org/obo/HP_0012719	Functional abnormality of the gastrointestinal tract		Any physiological abnormality of the esophagus.
http://purl.obolibrary.org/obo/HP_0025276	Abnormality of skin adnexa physiology	http://purl.obolibrary.org/obo/HP_0001574	Abnormality of the integument		Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
http://purl.obolibrary.org/obo/HP_0030082	Abnormal drinking behavior	http://purl.obolibrary.org/obo/HP_0040202	Abnormal consumption behavior		Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.
http://purl.obolibrary.org/obo/HP_0030186	Kinetic tremor	http://purl.obolibrary.org/obo/HP_0002345	Action tremor		Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
http://purl.obolibrary.org/obo/HP_0030191	Abnormal peripheral nervous system synaptic transmission	http://purl.obolibrary.org/obo/HP_0012535	Abnormal synaptic transmission		An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.
http://purl.obolibrary.org/obo/HP_0030506	Yellow/white retinal lesion	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		An area anywhere within the retina showing pale yellow or white discoloration. Such lesions can be flat or raised and there size can range from very small to big.
http://purl.obolibrary.org/obo/HP_0030680	Abnormal cardiovascular system morphology	http://purl.obolibrary.org/obo/HP_0001626	Abnormality of the cardiovascular system		Any structural anomaly of the heart and blood vessels.
http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		Any structural anomaly of the tongue.
http://purl.obolibrary.org/obo/HP_0030810	Abnormal tongue physiology	http://purl.obolibrary.org/obo/HP_0031815	Abnormal oral physiology		Any functional anomaly of the tongue.
http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna	http://purl.obolibrary.org/obo/HP_0040072	Abnormal forearm bone morphology		Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.
http://purl.obolibrary.org/obo/HP_0040130	Abnormal circulating iron concentration	http://purl.obolibrary.org/obo/HP_0011031	Abnormality of iron homeostasis		The concentration of iron in the blood circulation is outside the limits of normal.
http://purl.obolibrary.org/obo/HP_0040156	Elevated urinary carboxylic acid	http://purl.obolibrary.org/obo/HP_0001992	Organic aciduria		An increased amount of carboxylic acid in the urine.
http://purl.obolibrary.org/obo/HP_0040194	Increased head circumference	http://purl.obolibrary.org/obo/HP_0000240	Abnormality of skull size		An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.
http://purl.obolibrary.org/obo/HP_0040211	Abnormal skin morphology of the palm	http://purl.obolibrary.org/obo/HP_0100871	Abnormal palm morphology		An abnormality of the skin of the palm, that is, the skin of the front of the hand.
http://purl.obolibrary.org/obo/HP_0045010	Abnormal peripheral nerve morphology by anatomical site	http://purl.obolibrary.org/obo/HP_0000759	Abnormal peripheral nervous system morphology		Abnormal morphology of a specific peripheral nerve
http://purl.obolibrary.org/obo/HP_0045017	Congenital malformation of the left heart	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		Defect or defects of the morphogenesis of the left heart identifiable at birth.
http://purl.obolibrary.org/obo/HP_0045058	Abnormality of the testis size	http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology		An anomaly of the size of the testicle (the male gonad).
http://purl.obolibrary.org/obo/HP_0045074	Thin eyebrow	http://purl.obolibrary.org/obo/HP_0100840	Aplasia/Hypoplasia of the eyebrow		Decreased diameter of eyebrow hairs.
http://purl.obolibrary.org/obo/HP_3000030	Abnormal morphology of bony orbit of skull	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		An abnormality of an orbit of skull.
http://purl.obolibrary.org/obo/HP_3000050	Abnormal odontoid tissue morphology	http://purl.obolibrary.org/obo/HP_0000924	Abnormality of the skeletal system		An abnormality of an odontoid tissue.
http://purl.obolibrary.org/obo/NBO_0000011	social behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		"A behavior that occurs predominantly or only, in individuals that are part of a group." [Wikipedia:Social_behavior]
http://purl.obolibrary.org/obo/NBO_0000032	paralysis	http://purl.obolibrary.org/obo/NBO_0000009	locomotory behavior phenotype		"Loss of power of voluntary movement in a muscle through injury or disease of its nerve supply." [JAX:<new dbxref>]
http://purl.obolibrary.org/obo/NBO_0000248	obsessive-compulsive disorder	http://purl.obolibrary.org/obo/NBO_0000244	pathological anxiety		"A pathological anxiety primarily characterized by repetitive obsessions (distressing, persistent, and intrusive thoughts or images) and compulsions (urges to perform specific acts or rituals)." [wikipedia:Obsessive%E2%80%93compulsive_disorder]
http://purl.obolibrary.org/obo/NBO_0000313	behavior process	http://purl.obolibrary.org/obo/GO_0007610	behavior		"The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610]
http://purl.obolibrary.org/obo/NBO_0000602	apathy	http://purl.obolibrary.org/obo/NBO_0000601	emotional behavior phenotype		"Exhibiting indifference, or suppression of emotions such as concern, excitement, motivation and passion." [wikipedia:Indifference_(emotion)]
http://purl.obolibrary.org/obo/NBO_0000604	social inhibition	http://purl.obolibrary.org/obo/NBO_0000011	social behavior		"A social behavior characterised by conscious or unconscious constraint of a behavior that might be considered objectionable in a social setting." [wikipedia:Social_inhibition]
http://purl.obolibrary.org/obo/NBO_0000621	selective mutism	http://purl.obolibrary.org/obo/NBO_0000564	social behavior phenotype		"A communication disorder in which a person, most often a child, who is normally capable of speech is unable to speak in given situations, or to specific people." [wikipedia:Selective_mutism]
http://purl.obolibrary.org/obo/SO_0000240	chromosome_variation	http://purl.obolibrary.org/obo/SO_0001507	variant_collection		A deviation in chromosome structure or number.
http://purl.obolibrary.org/obo/SO_0000299	specific_recombination_site	http://purl.obolibrary.org/obo/SO_0000669	sequence_rearrangement_feature		A location where recombination or occurs during mitosis or meiosis.
http://purl.obolibrary.org/obo/SO_0000300	recombination_feature_of_rearranged_gene	http://purl.obolibrary.org/obo/SO_0000299	specific_recombination_site		A location where a gene is rearranged due to recombination during mitosis or meiosis.
http://purl.obolibrary.org/obo/SO_0000301	vertebrate_immune_system_gene_recombination_feature	http://purl.obolibrary.org/obo/SO_0000300	recombination_feature_of_rearranged_gene		A feature where recombination has occurred for the purpose of generating a diversity in the immune system.
http://purl.obolibrary.org/obo/SO_0000342	site_specific_recombination_target_region	http://purl.obolibrary.org/obo/SO_0000299	specific_recombination_site		A region specifically recognised by a recombinase where recombination can occur during mitosis or meiosis.
http://purl.obolibrary.org/obo/SO_0000460	vertebrate_immunoglobulin_T_cell_receptor_segment	http://purl.obolibrary.org/obo/SO_0000301	vertebrate_immune_system_gene_recombination_feature		Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor.
http://purl.obolibrary.org/obo/SO_0000571	miRNA_encoding	http://purl.obolibrary.org/obo/SO_0000011	non_protein_coding		A region that can be transcribed into a microRNA (miRNA).
http://purl.obolibrary.org/obo/SO_0000656	stRNA_encoding	http://purl.obolibrary.org/obo/SO_0000011	non_protein_coding		A region that can be transcribed into a small temporal RNA (stRNA). Found in roundworm development.
http://purl.obolibrary.org/obo/SO_0000669	sequence_rearrangement_feature	http://purl.obolibrary.org/obo/SO_0000298	recombination_feature		A feature where a segment of DNA has been rearranged from what it was in the parent cell.
http://purl.obolibrary.org/obo/SO_0000986	topology_attribute	http://purl.obolibrary.org/obo/SO_0000443	polymer_attribute		The attribute of whether a nucleotide polymer is linear or circular.
http://purl.obolibrary.org/obo/SO_0001508	alteration_attribute	http://purl.obolibrary.org/obo/SO_0000733	feature_attribute		An attribute of alteration of one or more chromosomes.
http://purl.obolibrary.org/obo/SO_0001509	chromosomal_variation_attribute	http://purl.obolibrary.org/obo/SO_0001508	alteration_attribute		An attribute of a change in the structure or number of a chromosomes.
http://purl.obolibrary.org/obo/SO_0001510	intrachromosomal	http://purl.obolibrary.org/obo/SO_0001509	chromosomal_variation_attribute		A change in chromosomes that occurs between two separate chromosomes.
http://purl.obolibrary.org/obo/SO_0001524	chromosomally_aberrant_genome	http://purl.obolibrary.org/obo/SO_0001506	variant_genome		When a genome contains an abnormal amount of chromosomes.
http://purl.obolibrary.org/obo/SO_1000183	chromosome_structure_variation	http://purl.obolibrary.org/obo/SO_0000240	chromosome_variation		An alteration of the genome that leads to a change in the structure or number of one or more chromosomes.
http://purl.obolibrary.org/obo/ENVO_01000895	snowfall	http://purl.obolibrary.org/obo/ENVO_01000703	hydrological precipitation process		A hydrological process in which irregular aggregates of snow fall to the surface of an astronomical body.
http://purl.obolibrary.org/obo/ENVO_09200011	pressure of air	http://purl.obolibrary.org/obo/PATO_0001025	pressure		The pressure of some air.
http://purl.obolibrary.org/obo/HP_0031093	Abnormal breast morphology	http://purl.obolibrary.org/obo/HP_0000769	Abnormality of the breast		Any anomaly of the structure of the breast.
http://purl.obolibrary.org/obo/ENVO_01001191	water surface	http://purl.obolibrary.org/obo/ENVO_01001310	liquid surface layer		The surface layer of a volume of water.
http://purl.obolibrary.org/obo/HP_0031797	Clinical course	http://purl.obolibrary.org/obo/HP_0012823	Clinical modifier		The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.
http://purl.obolibrary.org/obo/HP_0031801	Vocal cord dysfunction	http://purl.obolibrary.org/obo/HP_0001608	Abnormality of the voice		Any functional anomaly of the vocal cord.
http://purl.obolibrary.org/obo/MONDO_0100000	MED12-related intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.
http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).
http://purl.obolibrary.org/obo/HP_0032618	Renal necrosis	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		Cell death (necrosis) affecting one or more parts of the kidney.
http://purl.obolibrary.org/obo/MONDO_0100091	inherited pseudoxanthoma elasticum	http://purl.obolibrary.org/obo/MONDO_0024308	pseudoxanthoma elasticum (inherited or acquired)		An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.
http://purl.obolibrary.org/obo/MONDO_0100116	Middle East respiratory syndrome	http://purl.obolibrary.org/obo/MONDO_0020753	Orthocoronavirinae infectious disease		A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.
http://purl.obolibrary.org/obo/CHEBI_167559	glycan	http://purl.obolibrary.org/obo/CHEBI_78616	carbohydrates and carbohydrate derivatives		Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also <a href="http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001" target="_blank">http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001</a>.
http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0100437	RPGR-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by a variant in the X-linked gene, RPGR.
http://purl.obolibrary.org/obo/MONDO_0100446	CNGB3-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		A retinopathy caused by biallelic variants in the CNGB3 gene.
http://purl.obolibrary.org/obo/MONDO_0100438	AIPL1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by biallelic variants in the AIPL1 gene.
http://purl.obolibrary.org/obo/MONDO_0100442	RP2-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by variants in the X-linked gene, RP2.
http://purl.obolibrary.org/obo/MONDO_0100445	LCA5-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by biallelic variants in the LCA5 gene.
http://purl.obolibrary.org/obo/MONDO_0100454	GUCY2D retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
http://purl.obolibrary.org/obo/ENVO_06105266	soil layer	http://purl.obolibrary.org/obo/ENVO_01000281	layer		A layer that is composed primarily of soil.
http://purl.obolibrary.org/obo/ECTO_2000059	exposure to anesthetics	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to anesthetic agent therapy.
http://purl.obolibrary.org/obo/ECTO_3000006	exposure to Toxoplasma gondii	http://purl.obolibrary.org/obo/ECTO_3000000	exposure to organism		A history of exposure to Toxoplasma gondii.
http://purl.obolibrary.org/obo/ECTO_3000007	exposure to Listeria	http://purl.obolibrary.org/obo/ECTO_3000000	exposure to organism		A history of exposure to Listeria.
http://purl.obolibrary.org/obo/ECTO_3000008	exposure to Salmonella	http://purl.obolibrary.org/obo/ECTO_3000000	exposure to organism		A history of exposure to Salmonella.
http://purl.obolibrary.org/obo/ECTO_3000009	exposure to Escherichia coli	http://purl.obolibrary.org/obo/ECTO_3000000	exposure to organism		A history of exposure to Escherichia coli.
http://purl.obolibrary.org/obo/ECTO_7000148	exposure to cotton dust	http://purl.obolibrary.org/obo/ECTO_7000033	exposure to dust from plant parts		A exposure event involving the interaction of an exposure receptor to cotton dust.
http://purl.obolibrary.org/obo/ECTO_9002153	exposure to isocyanates	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to isocyanates.
http://purl.obolibrary.org/obo/ECTO_9002154	exposure to hematite	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to hematite.
http://purl.obolibrary.org/obo/ECTO_9002156	exposure to glycol	http://purl.obolibrary.org/obo/ECTO_9000162	exposure to carbohydrate		An exposure to glycol.
http://purl.obolibrary.org/obo/ECTO_9002168	exposure to aldehyde	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to aldehyde.
http://purl.obolibrary.org/obo/MONDO_0700055	KIF1A related neurological disorder	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A
http://purl.obolibrary.org/obo/MAXO_0001322	GABA modulator therapy	http://purl.obolibrary.org/obo/MAXO_0000206	GABA augmenting agent therapy		Use of a drug or agent that does not act as agonist or antagonist but does affect GABA-ionophore complex signaling.
http://purl.obolibrary.org/obo/MAXO_0001323	cholinergic agent therapy	http://purl.obolibrary.org/obo/MAXO_0001336	neurotransmitter agent therapy		Treatment with a drug or agent that modifies cholinergic signaling.
http://purl.obolibrary.org/obo/MAXO_0001327	cholinergic antagonist therapy	http://purl.obolibrary.org/obo/MAXO_0001323	cholinergic agent therapy		Treatment with a drug or agent that inhibits cholinergic signaling.
http://purl.obolibrary.org/obo/MAXO_0001331	dopaminergic agent therapy	http://purl.obolibrary.org/obo/MAXO_0001336	neurotransmitter agent therapy		Use of a drug or agent that modulates dopamine signaling.
http://purl.obolibrary.org/obo/MAXO_0001334	dopamine uptake inhibitor therapy	http://purl.obolibrary.org/obo/MAXO_0001331	dopaminergic agent therapy		Use of a drug or agent that inhibits dopamine neurotransmitter reuptake.
http://purl.obolibrary.org/obo/HP_5200241	Recurrent maladaptive behavior	http://purl.obolibrary.org/obo/HP_0000708	Atypical behavior		A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions.
http://purl.obolibrary.org/obo/HP_5200401	Abnormal judgment	http://purl.obolibrary.org/obo/HP_5200423	Abnormal experience of reality		Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.
http://purl.obolibrary.org/obo/HP_5200423	Abnormal experience of reality	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.
http://purl.obolibrary.org/obo/MONDO_0700233	TOPORS-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a variant in the TOPORS gene.
http://purl.obolibrary.org/obo/MONDO_0700252	parneoplastic endocrine syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome		Paraneoplastic syndrome that involves the endocrine system.
http://purl.obolibrary.org/obo/MONDO_0700253	paraneoplastic hematological syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome		Paraneoplastic syndrome that involves the hematopoietic system.
http://purl.obolibrary.org/obo/MONDO_0100551	AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.
http://purl.obolibrary.org/obo/MONDO_0100552	ATTRV30M amyloidosis	http://purl.obolibrary.org/obo/MONDO_0971004	amyloidosis, hereditary systemic 1		A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
http://purl.obolibrary.org/obo/MONDO_0100553	OPTN-related open angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.
http://purl.obolibrary.org/obo/MONDO_0700250	mitochondrial complex IV deficiency, nuclear type 1	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SURF1 gene.
http://purl.obolibrary.org/obo/MONDO_0700254	paraneoplastic gastrointestinal syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome		Paraneoplastic syndrome that involves the digestive system.
http://purl.obolibrary.org/obo/MONDO_0700264	type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.
http://purl.obolibrary.org/obo/MONDO_0700265	paraneoplastic rheumatic syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome		Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.
http://purl.obolibrary.org/obo/MONDO_0956962	benign teratoma	http://purl.obolibrary.org/obo/MONDO_0850144	germ cell benign neoplasm		A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.
http://purl.obolibrary.org/obo/MONDO_0956964	medulloblastoma SHH activated and TP53 mutant	http://purl.obolibrary.org/obo/MONDO_0850197	medulloblastoma SHH activated		A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
http://purl.obolibrary.org/obo/MONDO_0956965	medulloblastoma SHH activated and TP53 wild-type	http://purl.obolibrary.org/obo/MONDO_0850197	medulloblastoma SHH activated		A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
http://purl.obolibrary.org/obo/MONDO_0956966	medulloblastoma non-WNT/non-SHH group 3	http://purl.obolibrary.org/obo/MONDO_0850198	medulloblastoma non-WNT/non-SHH		A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
http://purl.obolibrary.org/obo/MONDO_0956967	medulloblastoma non-WNT/non-SHH group 4	http://purl.obolibrary.org/obo/MONDO_0850198	medulloblastoma non-WNT/non-SHH		A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.
http://purl.obolibrary.org/obo/MONDO_0956969	chronic inducible urticaria	http://purl.obolibrary.org/obo/MONDO_0850230	chronic urticaria		A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.
http://purl.obolibrary.org/obo/MONDO_0956971	intermittent asthma	http://purl.obolibrary.org/obo/MONDO_0850282	chronic asthma		A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.
http://purl.obolibrary.org/obo/MONDO_0956975	T2-high asthma	http://purl.obolibrary.org/obo/MONDO_0850282	chronic asthma		A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.
http://purl.obolibrary.org/obo/MONDO_0956976	T2-low asthma	http://purl.obolibrary.org/obo/MONDO_0850282	chronic asthma		A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.
http://purl.obolibrary.org/obo/MONDO_0956977	near-fatal asthma	http://purl.obolibrary.org/obo/MONDO_0850283	acute asthma		An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.
http://purl.obolibrary.org/obo/MONDO_0956979	nocturnal asthma	http://purl.obolibrary.org/obo/MONDO_0850282	chronic asthma		A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.
http://purl.obolibrary.org/obo/MONDO_0956980	vascular parkinsonism	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.
http://purl.obolibrary.org/obo/MONDO_0956981	astrocytoma, IDH-mutant, grade 4	http://purl.obolibrary.org/obo/MONDO_0850332	IDH-mutant anaplastic astrocytoma		An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
http://purl.obolibrary.org/obo/MONDO_0956983	pleomorphic xanthoastrocytoma BRAF mutant	http://purl.obolibrary.org/obo/MONDO_0850312	anaplastic pleomorphic xanthoastrocytoma		An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.
http://purl.obolibrary.org/obo/MONDO_0956984	YAP1-MAMLD1 fusion-positive supratentorial ependymoma	http://purl.obolibrary.org/obo/MONDO_0850340	supratentorial ependymoma		A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.
http://purl.obolibrary.org/obo/MONDO_0956985	lipofibromatosis-like neural tumor	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.
http://purl.obolibrary.org/obo/MONDO_0956986	solitary fibrous tumor/hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.
http://purl.obolibrary.org/obo/MONDO_0956987	EZB-MYC+ diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0850469	EZB diffuse large B-cell lymphoma		An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.
http://purl.obolibrary.org/obo/MONDO_0956988	EZB-MYC- diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0850469	EZB diffuse large B-cell lymphoma		An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.
http://purl.obolibrary.org/obo/MONDO_0956989	CIC-rearranged sarcoma	http://purl.obolibrary.org/obo/MONDO_0858921	EWSR1-negative small round cell tumor		An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.
http://purl.obolibrary.org/obo/MONDO_0956990	supratentorial ependymoma, ZFTA fusion–positive	http://purl.obolibrary.org/obo/MONDO_0850340	supratentorial ependymoma		A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.
http://purl.obolibrary.org/obo/MONDO_0956991	supratentorial ependymoma, YAP1 fusion–positive	http://purl.obolibrary.org/obo/MONDO_0850340	supratentorial ependymoma		A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.
http://purl.obolibrary.org/obo/MONDO_0956992	posterior fossa group A ependymoma	http://purl.obolibrary.org/obo/MONDO_0850339	posterior fossa ependymoma		A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.
http://purl.obolibrary.org/obo/MONDO_0956993	posterior fossa group B ependymoma	http://purl.obolibrary.org/obo/MONDO_0850339	posterior fossa ependymoma		A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.
http://purl.obolibrary.org/obo/MONDO_0956994	astrocytoma, IDH-mutant, grade 2	http://purl.obolibrary.org/obo/MONDO_0850332	IDH-mutant anaplastic astrocytoma		An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0956995	astrocytoma, IDH-mutant, grade 3	http://purl.obolibrary.org/obo/MONDO_0850332	IDH-mutant anaplastic astrocytoma		An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.
http://purl.obolibrary.org/obo/MONDO_0956996	oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2	http://purl.obolibrary.org/obo/MONDO_0859592	IDH-mutant and 1p/19q-codeleted oligodendroglioma		An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).
http://purl.obolibrary.org/obo/MONDO_0956997	oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3	http://purl.obolibrary.org/obo/MONDO_0859592	IDH-mutant and 1p/19q-codeleted oligodendroglioma		An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.
http://purl.obolibrary.org/obo/MONDO_0957196	diffuse midline glioma, H3 K27M-mutant	http://purl.obolibrary.org/obo/MONDO_1060171	diffuse midline glioma, H3 K27-altered		A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0957197	diffuse glioma, H3 G34 mutant	http://purl.obolibrary.org/obo/MONDO_0021042	glioma		A histone mutated tumor that has material basis in mutations in codon 34 of the H3 histone family 3A protein.
http://purl.obolibrary.org/obo/MONDO_0957519	diffuse gastric cancer	http://purl.obolibrary.org/obo/MONDO_0001056	gastric cancer		A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining.
http://purl.obolibrary.org/obo/MONDO_0957524	COX deficiency, benign infantile mitochondrial myopathy	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.
http://purl.obolibrary.org/obo/MONDO_0957896	metabolic dysfunction and alcohol associated liver disease	http://purl.obolibrary.org/obo/MONDO_0004790	fatty liver disease		A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors.
http://purl.obolibrary.org/obo/MONDO_0957912	organophosphate-induced delayed polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0001824	polyneuropathy		An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.
http://purl.obolibrary.org/obo/MONDO_0958075	intramedullary non-dysraphic spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0001790	spinal cord lipoma		A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura.
http://purl.obolibrary.org/obo/MONDO_0958076	myeloschisis	http://purl.obolibrary.org/obo/MONDO_0017062	spina bifida aperta		A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation.
http://purl.obolibrary.org/obo/MONDO_0958085	digenic hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis		A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.
http://purl.obolibrary.org/obo/MONDO_0958159	sarcoma with BCOR genetic alterations	http://purl.obolibrary.org/obo/MONDO_0006974	small cell sarcoma		A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations.
http://purl.obolibrary.org/obo/MONDO_0958160	round cell sarcoma with EWSR1-non-ETS fusion	http://purl.obolibrary.org/obo/MONDO_0006974	small cell sarcoma		A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.
http://purl.obolibrary.org/obo/MONDO_0958161	B acute lymphoblastic leukemia with PAX5 P80R mutation	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.
http://purl.obolibrary.org/obo/MONDO_0958162	B acute lymphoblastic leukemia with DUX4 rearrangement	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.
http://purl.obolibrary.org/obo/MONDO_0958164	poorly differentiated chordoma	http://purl.obolibrary.org/obo/MONDO_0008978	chordoma		A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0958165	anaplastic sarcoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0002930	kidney sarcoma		A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.
http://purl.obolibrary.org/obo/MONDO_0958231	neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene.
http://purl.obolibrary.org/obo/MONDO_0958258	Cushing syndrome due to cortisol-producing adrenocortical adenoma	http://purl.obolibrary.org/obo/MONDO_0020529	ACTH-independent Cushing syndrome		A form of endogenous Cushing syndrome characterized by chronic over-secretion of cortisol due to a benign adrenal tumor that arises from the adrenal cortex.
http://purl.obolibrary.org/obo/MONDO_0958259	dysraphism with stalk	http://purl.obolibrary.org/obo/MONDO_0000859	spina bifida occulta		A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.
http://purl.obolibrary.org/obo/MONDO_0958260	dysraphic spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0001790	spinal cord lipoma		A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.
http://purl.obolibrary.org/obo/MONDO_1010029	aleutian mink disease, human	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		A human disease caused by infection with Aleutian mink disease parvovirus.
http://purl.obolibrary.org/obo/MONDO_0700269	BRCA2-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.
http://purl.obolibrary.org/obo/MONDO_0700272	PALB2-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer.
http://purl.obolibrary.org/obo/MONDO_0100557	RBFOX2-related congenital heart disorder	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.
http://purl.obolibrary.org/obo/MONDO_0100560	ligneous conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0006170	conjunctival disorder		A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency.
http://purl.obolibrary.org/obo/MONDO_0100561	HBA1-related alpha thalassemia spectrum	http://purl.obolibrary.org/obo/MONDO_0100565	monogenic alpha thalassemia spectrum		Mild microcytic anemia caused by biallelic variation in the HBA1 gene.
http://purl.obolibrary.org/obo/MONDO_0100562	HBA2-related alpha thalassemia spectrum	http://purl.obolibrary.org/obo/MONDO_0100565	monogenic alpha thalassemia spectrum		Mild microcytic anemia caused by biallelic variation in the HBA2 gene.
http://purl.obolibrary.org/obo/MONDO_0100564	HBA1; HBA2-related digenic alpha thalassemia spectrum	http://purl.obolibrary.org/obo/MONDO_0100563	digenic alpha thalassemia spectrum		Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome).
http://purl.obolibrary.org/obo/MONDO_0100565	monogenic alpha thalassemia spectrum	http://purl.obolibrary.org/obo/MONDO_0011399	alpha thalassemia spectrum		An instance of alpha thalessemia spectrum that is caused by an inherited monogenomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0100566	myoclonic epilepsy in infancy	http://purl.obolibrary.org/obo/MONDO_0100577	myoclonic epilepsy		A neonatal/infantile epilepsy syndrome that is characterized by the onset of myoclonic seizures between the ages of 6-18 months (range 4 months to 3 years). Males are twice as likely to be affected as females. Antecedent and birth history is unremarkable. Head size and neurological examination are normal. Prior development is usually normal. Cognitive, motor and behavioral difficulties are reported, especially if seizures are poorly controlled. Developmental outcome is normal in 60-85% of cases. Mild intellectual impairment and attention problems can be seen.
http://purl.obolibrary.org/obo/MONDO_0100567	hereditary angioedema with normal C1Inh	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.
http://purl.obolibrary.org/obo/MONDO_0100570	ACD-related long telomere syndrome	http://purl.obolibrary.org/obo/MONDO_0800469	ACD-related telomere biology disorder		A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma.
http://purl.obolibrary.org/obo/MONDO_0700267	BARD1-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma.
http://purl.obolibrary.org/obo/MONDO_0700270	ATM-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.
http://purl.obolibrary.org/obo/MONDO_0700271	CHEK2-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.
http://purl.obolibrary.org/obo/MONDO_0700273	RAD51C-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.
http://purl.obolibrary.org/obo/MONDO_0700274	RAD51D-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the RAD51D gene. Pathogenic germline variation in RAD51D confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.
http://purl.obolibrary.org/obo/MONDO_0800459	noxacusis	http://purl.obolibrary.org/obo/MONDO_0043303	hyperacusis		Noxacusis/pain hyperacusis is characterized by individuals who experience otalgia or pain (e.g., dull ache, burning, sharp, stabbing pain and throbbing pain) in response to everyday sounds. This differs clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis).
http://purl.obolibrary.org/obo/MONDO_0800469	ACD-related telomere biology disorder	http://purl.obolibrary.org/obo/MONDO_0100137	telomere syndrome		A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.
http://purl.obolibrary.org/obo/MONDO_0958295	BCOR ITD sarcoma	http://purl.obolibrary.org/obo/MONDO_0958159	sarcoma with BCOR genetic alterations		A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.
http://purl.obolibrary.org/obo/MONDO_0958296	BCOR-CCNB3 sarcoma	http://purl.obolibrary.org/obo/MONDO_0958159	sarcoma with BCOR genetic alterations		A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.
http://purl.obolibrary.org/obo/MONDO_0958297	childhood sarcoma with BCOR genetic alterations	http://purl.obolibrary.org/obo/MONDO_0958159	sarcoma with BCOR genetic alterations		A sarcoma with BCOR genetic alterations that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0958298	childhood round cell sarcoma with EWSR1-non-ETS fusion	http://purl.obolibrary.org/obo/MONDO_0958160	round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0958299	round cell sarcoma with EWSR1-NFATC2 gene fusion	http://purl.obolibrary.org/obo/MONDO_0958160	round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.
http://purl.obolibrary.org/obo/MONDO_0958300	round cell sarcoma with EWSR1-PATZ1 gene fusion	http://purl.obolibrary.org/obo/MONDO_0958160	round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.
http://purl.obolibrary.org/obo/MONDO_0958301	round cell sarcoma with FUS-NFATC2 gene fusion	http://purl.obolibrary.org/obo/MONDO_0958160	round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.
http://purl.obolibrary.org/obo/MONDO_0958302	TFEB-rearranged renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0017886	MIT family translocation renal cell carcinoma		A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, with the MALAT1 gene.
http://purl.obolibrary.org/obo/MONDO_0958303	childhood renal cell carcinoma with MiT translocations	http://purl.obolibrary.org/obo/MONDO_0017886	MIT family translocation renal cell carcinoma		A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0958342	isolated optic nerve aplasia	http://purl.obolibrary.org/obo/MONDO_0002135	optic nerve disorder		A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
http://purl.obolibrary.org/obo/MONDO_0958343	PAPASH syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently.
http://purl.obolibrary.org/obo/MONDO_0958344	spinal dermal sinus	http://purl.obolibrary.org/obo/MONDO_0958259	dysraphism with stalk		A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery.
http://purl.obolibrary.org/obo/MONDO_0958345	limited dorsal myeloschisis	http://purl.obolibrary.org/obo/MONDO_0958259	dysraphism with stalk		A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present.
http://purl.obolibrary.org/obo/MONDO_0958346	isolated transitional filum lipoma	http://purl.obolibrary.org/obo/MONDO_0958260	dysraphic spinal cord lipoma		A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.
http://purl.obolibrary.org/obo/MONDO_0958347	isolated filum lipoma	http://purl.obolibrary.org/obo/MONDO_0958260	dysraphic spinal cord lipoma		A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation.
http://purl.obolibrary.org/obo/MONDO_0958348	retained medullary cord	http://purl.obolibrary.org/obo/MONDO_0958259	dysraphism with stalk		A rare closed dysraphism with terminal stalk characterized by persistent rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus.
http://purl.obolibrary.org/obo/MONDO_0958349	dorsal spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0958260	dysraphic spinal cord lipoma		A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.
http://purl.obolibrary.org/obo/MONDO_0958350	conus spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0958260	dysraphic spinal cord lipoma		A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus.
http://purl.obolibrary.org/obo/MONDO_0958351	hemi-myeloschisis	http://purl.obolibrary.org/obo/MONDO_0958076	myeloschisis		A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis.
http://purl.obolibrary.org/obo/MONDO_0958352	true myeloschisis	http://purl.obolibrary.org/obo/MONDO_0958076	myeloschisis		A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).
http://purl.obolibrary.org/obo/MONDO_0958353	intermediate collagen VI-related muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0958077	collagen 6-related congenital muscular dystrophy		A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.
http://purl.obolibrary.org/obo/MONDO_0968959	isolated arhinencephaly	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.
http://purl.obolibrary.org/obo/MONDO_0968974	large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0004095	B-cell neoplasm		A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters.
http://purl.obolibrary.org/obo/CHEBI_747204	reference compound	http://purl.obolibrary.org/obo/CHEBI_51086	chemical role		Any well-characterized compound that serves as a standard for the identification, quantification, calibration, or quality control of substances in scientific analysis.
http://purl.obolibrary.org/obo/CHEBI_10545	electron	http://purl.obolibrary.org/obo/CHEBI_36338	lepton		Elementary particle not affected by the strong force having a spin ½, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV.
http://purl.obolibrary.org/obo/CHEBI_15377	water	http://purl.obolibrary.org/obo/CHEBI_52625	inorganic hydroxy compound		An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms
http://purl.obolibrary.org/obo/CHEBI_15440	squalene	http://purl.obolibrary.org/obo/CHEBI_35191	triterpene		A triterpene consisting of 2,6,10,15,19,23-hexamethyltetracosane having six double bonds at the 2-, 6-, 10-, 14-, 18- and 22-positions with (<em>all-E</em>)-configuration.
http://purl.obolibrary.org/obo/CHEBI_15734	primary alcohol	http://purl.obolibrary.org/obo/CHEBI_30879	alcohol		A primary alcohol is a compound in which a hydroxy group, ‒OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it.
http://purl.obolibrary.org/obo/CHEBI_17478	aldehyde	http://purl.obolibrary.org/obo/CHEBI_36586	carbonyl compound		A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group.
http://purl.obolibrary.org/obo/CHEBI_24400	glycoside	http://purl.obolibrary.org/obo/CHEBI_63161	glycosyl compound		A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO‒, RS‒, RSe‒, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms <em>N</em>-glycosides and <em>C</em>-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and <em>C</em>-glycosyl compounds, respectively.
http://purl.obolibrary.org/obo/CHEBI_26596	salicylates	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid.
http://purl.obolibrary.org/obo/CHEBI_30527	flavin	http://purl.obolibrary.org/obo/CHEBI_38925	benzopteridine		A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[<em>g</em>]pteridine-2,4(3<em>H</em>,10<em>H</em>)-dione) skeleton, with a substituent on the 10 position.
http://purl.obolibrary.org/obo/CHEBI_32863	secondary amine	http://purl.obolibrary.org/obo/CHEBI_50995	secondary amino compound		A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups.
http://purl.obolibrary.org/obo/CHEBI_33286	agrochemical	http://purl.obolibrary.org/obo/CHEBI_33232	application		An agrochemical is a substance that is used in agriculture or horticulture.
http://purl.obolibrary.org/obo/CHEBI_36338	lepton	http://purl.obolibrary.org/obo/CHEBI_36340	fermion		Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek λεπτοσ (small, thin).
http://purl.obolibrary.org/obo/CHEBI_38337	pyrimidone	http://purl.obolibrary.org/obo/CHEBI_39447	pyrimidines		A pyrimidine carrying one or more oxo substituents.
http://purl.obolibrary.org/obo/CHEBI_38975	methylbenzene	http://purl.obolibrary.org/obo/CHEBI_38976	alkylbenzene		Any alkylbenzene that is benzene substituted with one or more methyl groups.
http://purl.obolibrary.org/obo/CHEBI_50401	cholestanoid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		Any steroid based on a cholestane skeleton and its derivatives.
http://purl.obolibrary.org/obo/CHEBI_77746	human metabolite	http://purl.obolibrary.org/obo/CHEBI_75768	mammalian metabolite		Any mammalian metabolite  produced during a metabolic reaction in humans (<em>Homo sapiens</em>).
http://purl.obolibrary.org/obo/CHEBI_83403	monochlorobenzenes	http://purl.obolibrary.org/obo/CHEBI_23132	chlorobenzenes		Any member of the class of chlorobenzenes containing a mono- or poly-substituted benzene ring in which only one substituent is chlorine.
http://purl.obolibrary.org/obo/CHEBI_83822	non-proteinogenic L-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_83925	non-proteinogenic alpha-amino acid		Any <small>L</small>-α-amino acid which is not a member of the group of 23 proteinogenic amino acids.
http://purl.obolibrary.org/obo/CHEBI_84144	L-phenylalanine derivative	http://purl.obolibrary.org/obo/CHEBI_25985	phenylalanine derivative		A proteinogenic amino acid derivative resulting from reaction of <small>L</small>-phenylalanine  at the amino group or the carboxy group, or from the replacement of any hydrogen of <small>L</small>-phenylalanine  by a heteroatom.
http://purl.obolibrary.org/obo/CHEBI_15765	L-dopa	http://purl.obolibrary.org/obo/CHEBI_83822	non-proteinogenic L-alpha-amino acid		An optically active form of dopa having <small>L</small>-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease
http://purl.obolibrary.org/obo/CHEBI_17272	propionate	http://purl.obolibrary.org/obo/CHEBI_78113	fatty acid anion 3:0		The conjugate base of propionic acid; a key precursor in lipid biosynthesis.
http://purl.obolibrary.org/obo/CHEBI_36132	alicyclic ketone	http://purl.obolibrary.org/obo/CHEBI_3992	cyclic ketone		A cyclic ketone in which the carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system.
http://purl.obolibrary.org/obo/CHEBI_64583	sphingomyelin	http://purl.obolibrary.org/obo/CHEBI_140325	secondary carboxamide		Any of a class of phospholipids in which the amino group of a sphingoid base is in amide linkage with one of several fatty acids, while the terminal hydroxy group of the sphingoid base is esterified to phosphorylcholine.
http://purl.obolibrary.org/obo/CHEBI_16113	cholesterol	http://purl.obolibrary.org/obo/CHEBI_35348	3beta-sterol		A cholestanoid consisting of cholestane having a double bond at the 5,6-position as well as a 3β-hydroxy group.
http://purl.obolibrary.org/obo/CHEBI_16998	D-phenylalanine	http://purl.obolibrary.org/obo/CHEBI_28044	phenylalanine		The <small>D</small>-enantiomer of phenylalanine.
http://purl.obolibrary.org/obo/CHEBI_29986	D-glutamate(1-)	http://purl.obolibrary.org/obo/CHEBI_14321	glutamate(1-)		An α-amino-acid anion that is the conjugate base of <small>D</small>-glutamic acid, having anionic carboxy groups and a cationic amino group
http://purl.obolibrary.org/obo/CHEBI_35348	3beta-sterol	http://purl.obolibrary.org/obo/CHEBI_36836	3beta-hydroxy steroid		A sterol in which the hydroxy group at position 3 has β- configuration.
http://purl.obolibrary.org/obo/CHEBI_48706	antagonist	http://purl.obolibrary.org/obo/CHEBI_52210	pharmacological role		Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances.
http://purl.obolibrary.org/obo/CHEBI_26836	sulfuric acid	http://purl.obolibrary.org/obo/CHEBI_33402	sulfur oxoacid		A sulfur oxoacid that consists of two oxo and two hydroxy groups joined covalently to a central sulfur atom.
http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom	http://purl.obolibrary.org/obo/CHEBI_33521	metal atom		An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell.
http://purl.obolibrary.org/obo/CHEBI_29202	isocyanic acid	http://purl.obolibrary.org/obo/CHEBI_33405	hydracid		A colourless, volatile, poisonous inorganic compound with the formula HNCO; the simplest stable chemical compound that contains carbon, hydrogen, nitrogen, and oxygen, the four most commonly-found elements in organic chemistry and biology.
http://purl.obolibrary.org/obo/CHEBI_32504	phenylalaninate	http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion		An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group.
http://purl.obolibrary.org/obo/CHEBI_32505	phenylalaninium	http://purl.obolibrary.org/obo/CHEBI_33719	alpha-amino-acid cation		An α-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group.
http://purl.obolibrary.org/obo/CHEBI_32773	D-tyrosinate(1-)	http://purl.obolibrary.org/obo/CHEBI_32784	tyrosinate(1-)		An optically active form of tyrosinate(1−) having <small>D</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_32775	D-tyrosinium	http://purl.obolibrary.org/obo/CHEBI_32786	tyrosinium		An optically active form of tyrosinium having <small>D</small>-configuration.
http://purl.obolibrary.org/obo/CHEBI_33672	heterobicyclic compound	http://purl.obolibrary.org/obo/CHEBI_33636	bicyclic compound		A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom.
http://purl.obolibrary.org/obo/CHEBI_35186	terpene	http://purl.obolibrary.org/obo/CHEBI_24632	hydrocarbon		A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH<small><sub>2</sub></small>=C(CH<small><sub>3</sub></small>)CH=CH<small><sub>2</sub></small>].
http://purl.obolibrary.org/obo/CHEBI_35842	antirheumatic drug	http://purl.obolibrary.org/obo/CHEBI_23888	drug		A drug used to treat rheumatoid arthritis.
http://purl.obolibrary.org/obo/CHEBI_36333	local anaesthetic	http://purl.obolibrary.org/obo/CHEBI_38867	anaesthetic		Any member of a group of drugs that reversibly inhibit the propagation of signals along nerves. Wide variations in potency, stability, toxicity, water-solubility and duration of action determine the route used for administration, e.g. topical, intravenous, epidural or spinal block.
http://purl.obolibrary.org/obo/CHEBI_38077	polypyrrole	http://purl.obolibrary.org/obo/CHEBI_38101	organonitrogen heterocyclic compound		A compound composed of two or more pyrrole units.
http://purl.obolibrary.org/obo/CHEBI_38323	cholinergic drug	http://purl.obolibrary.org/obo/CHEBI_35942	neurotransmitter agent		Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons.
http://purl.obolibrary.org/obo/CHEBI_46818	urate anion	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		An organic anion obtained by removal of at least one proton from any uric acid.
http://purl.obolibrary.org/obo/CHEBI_49104	heteroarenecarbaldehyde	http://purl.obolibrary.org/obo/CHEBI_17478	aldehyde		An aldehyde in which a formyl group is located on a heteroarene.
http://purl.obolibrary.org/obo/CHEBI_51151	dipolar compound	http://purl.obolibrary.org/obo/CHEBI_72695	organic molecule		An  organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case.
http://purl.obolibrary.org/obo/CHEBI_58570	D-tyrosine zwitterion	http://purl.obolibrary.org/obo/CHEBI_59871	D-alpha-amino acid zwitterion		A <small>D</small>-α-amino acid zwitterion that is <small>D</small>-tyrosine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_60056	cocaine(1+)	http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative		The conjugate base of cocaine arising from protonation of the tertiary amino group; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_63470	sulfur-containing amino-acid anion	http://purl.obolibrary.org/obo/CHEBI_37022	amino-acid anion		A sulfur-containing amino acid whose α-carboxylic acid group is ionized (not protonated).
http://purl.obolibrary.org/obo/CHEBI_64047	food additive	http://purl.obolibrary.org/obo/CHEBI_78295	food component		Any substance which is added to food to preserve or enhance its flavour and/or appearance.
http://purl.obolibrary.org/obo/CHEBI_71392	tetracycline(1-)	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		An organic anion that is the conjugate base of tetracycline zwitterion obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group.
http://purl.obolibrary.org/obo/CHEBI_77932	tetracycline zwitterion	http://purl.obolibrary.org/obo/CHEBI_144644	a tetracycline zwitterion		A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.).
http://purl.obolibrary.org/obo/CHEBI_88184	metal allergen	http://purl.obolibrary.org/obo/CHEBI_33521	metal atom		Any metal which causes the onset of an allergic reaction.
http://purl.obolibrary.org/obo/CHEBI_35137	hemoprotein	http://purl.obolibrary.org/obo/CHEBI_35136	iron protein		Conjugated proteins containing heme as the prosthetic group.
http://purl.obolibrary.org/obo/CHEBI_35281	onium betaine	http://purl.obolibrary.org/obo/CHEBI_27369	zwitterion		Neutral molecules having charge-separated forms with an onium atom which bears no hydrogen atoms and that is not adjacent to the anionic atom.
http://purl.obolibrary.org/obo/CHEBI_35568	mancude ring	http://purl.obolibrary.org/obo/CHEBI_23367	molecular entity		Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds.
http://purl.obolibrary.org/obo/CHEBI_36340	fermion	http://purl.obolibrary.org/obo/CHEBI_36342	subatomic particle		Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi.
http://purl.obolibrary.org/obo/CHEBI_36343	composite particle	http://purl.obolibrary.org/obo/CHEBI_36342	subatomic particle		A subatomic particle known to have substructure (i.e. consisting of smaller particles).
http://purl.obolibrary.org/obo/CHEBI_36344	hadron	http://purl.obolibrary.org/obo/CHEBI_36343	composite particle		Hadron is a subatomic particle which experiences the strong force.
http://purl.obolibrary.org/obo/CHEBI_48343	disulfide	http://purl.obolibrary.org/obo/CHEBI_26835	sulfur molecular entity		Compounds of structure RSSR'.
http://purl.obolibrary.org/obo/CHEBI_51269	acenes	http://purl.obolibrary.org/obo/CHEBI_33836	benzenoid aromatic compound		Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives.
http://purl.obolibrary.org/obo/CHEBI_52210	pharmacological role	http://purl.obolibrary.org/obo/CHEBI_24432	biological role		A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties.
http://purl.obolibrary.org/obo/CHEBI_5254	galactolipid	http://purl.obolibrary.org/obo/CHEBI_33563	glycolipid		A glycolipid and which the glyco component is specified as galactosyl.
http://purl.obolibrary.org/obo/CHEBI_76775	EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76760	EC 3.1.* (ester hydrolase) inhibitor		An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of any phosphoric monoester hydrolase (EC 3.1.3.*).
http://purl.obolibrary.org/obo/CHEBI_76835	EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76726	EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor		An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD<small><sup>+</small></sup> or NADP<small><sup>+</small></sup> as acceptor (EC 1.1.1.*).
http://purl.obolibrary.org/obo/CHEBI_76840	EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76741	EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor		An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any enzyme in the EC 1.14.99.* (miscellaneous) category.
http://purl.obolibrary.org/obo/CHEBI_84410	sphingoid base(1+)	http://purl.obolibrary.org/obo/CHEBI_35785	sphingoid		A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base.
http://purl.obolibrary.org/obo/CHEBI_64766	cationic group	http://purl.obolibrary.org/obo/CHEBI_24433	group		A group that carries an overall positive charge.
http://purl.obolibrary.org/obo/CHEBI_64767	anionic group	http://purl.obolibrary.org/obo/CHEBI_24433	group		A group that carries an overall negative charge.
http://purl.obolibrary.org/obo/CHEBI_64898	anionic amino-acid residue	http://purl.obolibrary.org/obo/CHEBI_64775	organic anionic group		An amino-acid residue carrying an overall negative charge.
http://purl.obolibrary.org/obo/CHEBI_75324	excipient	http://purl.obolibrary.org/obo/CHEBI_747332	filler		A generally pharmacologically inactive substance that is formulated with the active ingredient of a medication.
http://purl.obolibrary.org/obo/CHEBI_75603	EC 6.* (ligase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_23924	enzyme inhibitor		Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.
http://purl.obolibrary.org/obo/CHEBI_75787	prokaryotic metabolite	http://purl.obolibrary.org/obo/CHEBI_25212	metabolite		Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea.
http://purl.obolibrary.org/obo/CHEBI_76414	propellant	http://purl.obolibrary.org/obo/CHEBI_33232	application		A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans.
http://purl.obolibrary.org/obo/CHEBI_76710	EC 4.* (lyase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_23924	enzyme inhibitor		An enzyme inhibitor which interferes with the action of a lyase (EC 4.*.*.*). Lyases are enzymes cleaving <em>C</em>‒<em>C</em>, <em>C</em>‒<em>O</em>, <em>C</em>‒<em>N</em> and other bonds by other means than by hydrolysis or oxidation.
http://purl.obolibrary.org/obo/CHEBI_76712	EC 4.2.* (C-O lyase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76710	EC 4.* (lyase) inhibitor		A lyase inhibitor which inhibits the action of a <em>C</em>‒<em>O</em> lyase (EC 4.2.*.*).
http://purl.obolibrary.org/obo/CHEBI_76725	EC 1.* (oxidoreductase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_23924	enzyme inhibitor		An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*).
http://purl.obolibrary.org/obo/CHEBI_76726	EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725	EC 1.* (oxidoreductase) inhibitor		An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*).
http://purl.obolibrary.org/obo/CHEBI_76729	EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725	EC 1.* (oxidoreductase) inhibitor		An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-CH group of donors (EC 1.3.*.*).
http://purl.obolibrary.org/obo/CHEBI_76731	EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725	EC 1.* (oxidoreductase) inhibitor		An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-NH group of donors (EC 1.5.*.*).
http://purl.obolibrary.org/obo/CHEBI_76736	EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725	EC 1.* (oxidoreductase) inhibitor		An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on a heme group of donors (EC 1.9.*.*).
http://purl.obolibrary.org/obo/CHEBI_76738	EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725	EC 1.* (oxidoreductase) inhibitor		An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on peroxide as donors (EC 1.11.*.*).
http://purl.obolibrary.org/obo/CHEBI_76740	EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725	EC 1.* (oxidoreductase) inhibitor		An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases), EC 1.13.*.*.
http://purl.obolibrary.org/obo/CHEBI_76741	EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725	EC 1.* (oxidoreductase) inhibitor		An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on hydrogen as donors (EC 1.14.*.*).
http://purl.obolibrary.org/obo/CHEBI_76764	EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76759	EC 3.* (hydrolase) inhibitor		Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*).
http://purl.obolibrary.org/obo/SO_0000011	non_protein_coding	http://purl.obolibrary.org/obo/SO_0000401	gene_attribute		A gene which can be transcribed, but will not be translated into a protein.
http://purl.obolibrary.org/obo/SO_0000298	recombination_feature	http://purl.obolibrary.org/obo/SO_0001411	biological_region		A feature where there has been exchange of genetic material in the event of mitosis or meiosis
http://purl.obolibrary.org/obo/SO_0000401	gene_attribute	http://purl.obolibrary.org/obo/SO_0000733	feature_attribute		An attribute describing a gene.
http://purl.obolibrary.org/obo/SO_0000578	snoRNA_encoding	http://purl.obolibrary.org/obo/SO_0000011	non_protein_coding		A region that can be transcribed into a small nucleolar RNA (snoRNA).
http://purl.obolibrary.org/obo/SO_0000663	tRNA_encoding	http://purl.obolibrary.org/obo/SO_0000011	non_protein_coding		A region that can be transcribed into a transfer RNA (tRNA).
http://purl.obolibrary.org/obo/SO_0002072	sequence_comparison	http://purl.obolibrary.org/obo/SO_0000110	sequence_feature		A position or feature where two sequences have been compared.
http://purl.obolibrary.org/obo/MONDO_0024286	benign blood vessel neoplasm	http://purl.obolibrary.org/obo/MONDO_0021080	blood vessel neoplasm		A benign neoplasm arising from arteries or veins.
http://purl.obolibrary.org/obo/MONDO_0024288	hyperbilirubinemia	http://purl.obolibrary.org/obo/MONDO_0024431	bilirubin metabolism disease		A disease characterized by elevated level of the pigment bilirubin in the blood.
http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm	http://purl.obolibrary.org/obo/MONDO_0024757	cardiovascular neoplasm		A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.
http://purl.obolibrary.org/obo/MONDO_0024331	colorectal carcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.
http://purl.obolibrary.org/obo/MONDO_0024308	pseudoxanthoma elasticum (inherited or acquired)	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.
http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis	http://purl.obolibrary.org/obo/MONDO_0024322	disorder of glycosylation		A disease that has its basis in the disruption of GPI anchor biosynthetic process.
http://purl.obolibrary.org/obo/MONDO_0024304	ichthyosis vulgaris	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.
http://purl.obolibrary.org/obo/HP_0031816	Abnormal oral morphology	http://purl.obolibrary.org/obo/HP_0000153	Abnormality of the mouth		Any structural anomaly of the mouth, which is also known as the oral cavity.
http://purl.obolibrary.org/obo/HP_0031826	Abnormal reflex	http://purl.obolibrary.org/obo/HP_0100022	Abnormality of movement		Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).
http://purl.obolibrary.org/obo/HP_0031899	Abnormal coagulation factor V activity	http://purl.obolibrary.org/obo/HP_0010990	Abnormality of the common coagulation pathway		Any deviation from the activity of coagulation factor V.
http://purl.obolibrary.org/obo/CHEBI_142163	24G7 epitope	http://purl.obolibrary.org/obo/CHEBI_24433	group		An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXα, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22.
http://purl.obolibrary.org/obo/MONDO_0300000	SSR3-CDG	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.
http://purl.obolibrary.org/obo/MONDO_0100079	developmental and epileptic encephalopathy, 6A	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.
http://purl.obolibrary.org/obo/MONDO_0020743	mixed phenotype acute leukemia	http://purl.obolibrary.org/obo/MONDO_0019460	acute leukemia of ambiguous lineage		An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.
http://purl.obolibrary.org/obo/FOODON_00003004	animal	http://purl.obolibrary.org/obo/FOODON_03420164	animal material		A whole animal.
http://purl.obolibrary.org/obo/FOODON_00004100	food material by component concentration	http://purl.obolibrary.org/obo/FOODON_00002454	food material by characteristic		A food material class referenced by the concentration of some component
http://purl.obolibrary.org/obo/MONDO_0100426	iatrogenic	http://purl.obolibrary.org/obo/MONDO_0100369	iatrogenic or non-iatrogenic		A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient.
http://purl.obolibrary.org/obo/MONDO_8000010	antiphospholipid syndrome	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.
http://purl.obolibrary.org/obo/MONDO_0100450	CAPN5-related vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0700115	proliferative vitreoretinopathy		An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
http://purl.obolibrary.org/obo/MONDO_0100368	RPE65-related recessive retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.
http://purl.obolibrary.org/obo/MONDO_0100443	RDH5-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.
http://purl.obolibrary.org/obo/MONDO_0100444	RLBP1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.
http://purl.obolibrary.org/obo/MONDO_0100453	GUCY2D-related recessive retinopathy	http://purl.obolibrary.org/obo/MONDO_0100454	GUCY2D retinopathy		A retinopathy caused by biallelic variants in the GUCY2D gene.
http://purl.obolibrary.org/obo/MONDO_0700027	chromosome X disorder	http://purl.obolibrary.org/obo/MONDO_0020058	gonosome anomaly		Chromosomal disorder in which chromosome X is affected.
http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Disorder caused by mutations in the various subunits composing the BAF complex.
http://purl.obolibrary.org/obo/MONDO_0700124	chromosome 21 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 21 is affected.
http://purl.obolibrary.org/obo/MONDO_0100484	TSPAN12-related vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0020246	inherited vitreoretinopathy		A vitreoretinopathy caused by variants in the TSPAN12 gene.
http://purl.obolibrary.org/obo/MONDO_0700021	chromosome 14 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 14 is affected.
http://purl.obolibrary.org/obo/MONDO_0700125	chromosome 18 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 18 is affected.
http://purl.obolibrary.org/obo/MONDO_0700023	chromosome 16 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 16 is affected.
http://purl.obolibrary.org/obo/MONDO_0700008	chromosome 1 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 1 is affected.
http://purl.obolibrary.org/obo/MONDO_0700009	chromosome 2 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 2 is affected.
http://purl.obolibrary.org/obo/MONDO_0700010	chromosome 3 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 3 is affected.
http://purl.obolibrary.org/obo/MONDO_0700011	chromosome 4 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 4 is affected.
http://purl.obolibrary.org/obo/MONDO_0700012	chromosome 5 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 5 is affected.
http://purl.obolibrary.org/obo/MONDO_0700013	chromosome 6 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 6 is affected.
http://purl.obolibrary.org/obo/MONDO_0700014	chromosome 7 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 7 is affected.
http://purl.obolibrary.org/obo/MONDO_0700015	chromosome 8 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 8 is affected.
http://purl.obolibrary.org/obo/MONDO_0700016	chromosome 9 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 9 is affected.
http://purl.obolibrary.org/obo/MONDO_0700017	chromosome 10 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 10 is affected.
http://purl.obolibrary.org/obo/MONDO_0700018	chromosome 11 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 11 is affected.
http://purl.obolibrary.org/obo/MONDO_0700019	chromosome 12 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 12 is affected.
http://purl.obolibrary.org/obo/MONDO_0700022	chromosome 15 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 15 is affected.
http://purl.obolibrary.org/obo/MONDO_0700024	chromosome 19 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 19 is affected.
http://purl.obolibrary.org/obo/MONDO_0700025	chromosome 20 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 20 is affected.
http://purl.obolibrary.org/obo/MONDO_0700026	chromosome 22 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 22 is affected.
http://purl.obolibrary.org/obo/MONDO_0700028	chromosome Y disorder	http://purl.obolibrary.org/obo/MONDO_0020058	gonosome anomaly		Chromosomal disorder in which chromosome Y is affected.
http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Respiratory system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal		Immune system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0100323	inherited pseudohypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.
http://purl.obolibrary.org/obo/FOODON_00004348	raw	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		A characteristic of organism(s) or pieces(s) thereof, which have not had material processing that affects its biochemical composition.
http://purl.obolibrary.org/obo/MONDO_1010000	pythiosis	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.
http://purl.obolibrary.org/obo/MONDO_0970957	terminal extramedullary conus spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0968987	extramedullary conus spinal cord lipoma		A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus.
http://purl.obolibrary.org/obo/MONDO_0970958	transitional extramedullary conus spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0968987	extramedullary conus spinal cord lipoma		A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-"transitional" between posterior and terminal conus region spinal cord lipoma.
http://purl.obolibrary.org/obo/MONDO_0970959	posterior extramedullary conus spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0968987	extramedullary conus spinal cord lipoma		A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated.
http://purl.obolibrary.org/obo/MONDO_0970960	lipomatous non-saccular limited dorsal myeloschisis	http://purl.obolibrary.org/obo/MONDO_0968989	non-saccular limited dorsal myeloschisis		A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers.
http://purl.obolibrary.org/obo/MONDO_0970961	fibroneural non-saccular limited dorsal myeloschisis	http://purl.obolibrary.org/obo/MONDO_0968989	non-saccular limited dorsal myeloschisis		A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues.
http://purl.obolibrary.org/obo/MONDO_0970962	terminal myelocystocele	http://purl.obolibrary.org/obo/MONDO_0968988	saccular spinal dysraphism with a stalk to the dome		A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele).
http://purl.obolibrary.org/obo/MONDO_0970963	saccular limited dorsal myeloschisis	http://purl.obolibrary.org/obo/MONDO_0968988	saccular spinal dysraphism with a stalk to the dome		A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present.
http://purl.obolibrary.org/obo/MONDO_0970964	myelic limited dorsal malformation	http://purl.obolibrary.org/obo/MONDO_0968988	saccular spinal dysraphism with a stalk to the dome		A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized.
http://purl.obolibrary.org/obo/MONDO_0971007	neuroocular syndrome 1	http://purl.obolibrary.org/obo/MONDO_0859193	neuroocular syndrome		A neuroocular syndrome caused by a mutation in PRR12 gene. It encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly.
http://purl.obolibrary.org/obo/MONDO_1011400	pituitary-dependent hyperadrenocorticism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013318	pituitary gland adenoma, non-human animal		Pituitary-dependent hyperadrenocorticism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011401	type 1 diabetes mellitus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Type 1 diabetes mellitus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011402	type 2 diabetes mellitus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Type 2 diabetes mellitus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011403	hyperadrenocorticism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Hyperadrenocorticism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011404	metabolic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Metabolic syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011405	Diamond-Blackfan anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013201	pure red-cell aplasia, non-human animal		Diamond-Blackfan anemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011406	autoimmune hemolytic anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Autoimmune hemolytic anemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011407	nonspherocytic hemolytic anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Nonspherocytic hemolytic anemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011408	hemophilia A, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012575	X-linked disease, non-human animal		Hemophilia A that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011409	portosystemic shunt, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Portosystemic shunt that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011410	vitamin-K-dependent blood coagulation factors deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Vitamin-K-Dependent blood coagulation factors deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011411	Von Willebrand disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Von Willebrand disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011412	methemoglobinemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Methemoglobinemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011413	paroxysmal nocturnal hemoglobinuria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013699	hemoglobinuria, non-human animal		Paroxysmal nocturnal hemoglobinuria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011414	vestibular disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013049	disorder of ear, non-human animal		Vestibular disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770017	disease by molecular mechanism, non-human animal		Amyloidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011416	calcinosis circumscripta, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Calcinosis circumscripta that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011417	hypertriglyceridemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Hypertriglyceridemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011418	porphyria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Porphyria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Glycogen storage disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011420	hyperhomocysteinemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Hyperhomocysteinemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011421	complement component 3 deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Complement component 3 deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011422	severe combined immunodeficiency disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Severe combined immunodeficiency disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011423	complement component 6 deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Complement component 6 deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011424	complement component 2 deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Complement component 2 deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Ehlers-Danlos syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011426	junctionalis epidermolysis bullosa , non-human animal	http://purl.obolibrary.org/obo/MONDO_1010129	epidermolysis bullosa, non-human animal		Junctionalis epidermolysis bullosa that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011427	ichthyosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Ichthyosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011428	epidermolysis bullosa simplex, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010129	epidermolysis bullosa, non-human animal		Epidermolysis bullosa simplex that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011429	hepatic lipidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012967	liver disorder, non-human animal		Hepatic lipidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Neuronal ceroid lipofuscinosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011431	Gaucher disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Gaucher disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011432	beta-mannosidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Beta-mannosidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011433	hyperkalemic periodic paralysis, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770017	disease by molecular mechanism, non-human animal		Hyperkalemic periodic paralysis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011434	hypokalaemic periodic paralysis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Hypokalaemic periodic paralysis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011435	Becker type muscular dystrophy, non-human animal, DMD-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Becker type muscular dystrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011436	histiocytosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Histiocytosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011437	neurofibromatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Neurofibromatosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011438	nephroma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013146	kidney neoplasm, non-human animal		Nephroma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011439	Wilms tumor, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013146	kidney neoplasm, non-human animal		Wilms tumour that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011440	gastrointestinal stromal tumour, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Gastrointestinal stromal tumour that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011441	mast cell tumor, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Mast cell tumor that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011442	enteropathy-associated T cell lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010214	non-hodgkin lymphoma, non-human animal		Enteropathy-associated T cell lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Alzheimer disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011444	neuroaxonal dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Neuroaxonal dystrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011445	fibrocartilaginous embolic myelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Fibrocartilaginous embolic myelopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011446	medium-chain acyl-CoA dehydrogenase deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Medium-Chain acyl-CoA dehydrogenase deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011447	Waardenburg syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Waardenburg syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011448	Fanconi syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Fanconi syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011449	immunoglobulin A glomerulonephropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010258	glomerulonephritis, non-human animal		Immunoglobulin A glomerulonephropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011450	xanthinuria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Xanthinuria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011451	idiopathic pulmonary fibrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700110	pneumonia, non-human animal		Idiopathic pulmonary fibrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011452	intervertebral disc disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Intervertebral disc disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011453	Legg-Calvé-Perthes disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Legg-Calvé-Perthes disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011454	osteogenesis imperfecta, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Osteogenesis imperfecta that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011455	arthrogryposis multiplex congenita, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Arthrogryposis multiplex congenita that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Rickets that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011457	glaucoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Glaucoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011458	glaucoma, primary closed-angle, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011457	glaucoma, non-human animal		Glaucoma, primary closed-angle that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011459	ligneous membranitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Ligneous membranitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1011460	Alzheimer disease, degu	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in degu.
http://purl.obolibrary.org/obo/MONDO_1011461	Alzheimer disease, dog	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011462	Alzheimer disease, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011463	Alzheimer disease, sheep	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011464	amyloidosis, black-footed cat	http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal		Amyloidosis that occurs in black-footed cat.
http://purl.obolibrary.org/obo/MONDO_1011465	amyloidosis, black-footed ferret	http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal		Amyloidosis that occurs in black-footed ferret.
http://purl.obolibrary.org/obo/MONDO_1011466	amyloidosis, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Amyloidosis that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1011467	amyloidosis, dog	http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal		Amyloidosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011468	amyloidosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal		Amyloidosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011469	amyloidosis, domestic goose	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Amyloidosis that occurs in domestic goose.
http://purl.obolibrary.org/obo/MONDO_1011470	amyloidosis, ducks	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Amyloidosis that occurs in ducks.
http://purl.obolibrary.org/obo/MONDO_1011471	amyloidosis, goat	http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal		Amyloidosis that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011472	amyloidosis, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011415	amyloidosis, non-human animal		Amyloidosis that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1011473	amyloidosis, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Amyloidosis that occurs in Japanese quail.
http://purl.obolibrary.org/obo/MONDO_1011474	arthrogryposis multiplex congenita, cattle	http://purl.obolibrary.org/obo/MONDO_1011455	arthrogryposis multiplex congenita, non-human animal		Arthrogryposis multiplex congenita that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011475	arthrogryposis multiplex congenita, pig	http://purl.obolibrary.org/obo/MONDO_1011455	arthrogryposis multiplex congenita, non-human animal		Arthrogryposis multiplex congenita that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011476	arthrogryposis multiplex congenita, sheep	http://purl.obolibrary.org/obo/MONDO_1011455	arthrogryposis multiplex congenita, non-human animal		Arthrogryposis multiplex congenita that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011477	autoimmune hemolytic anemia, dog	http://purl.obolibrary.org/obo/MONDO_1011406	autoimmune hemolytic anemia, non-human animal		Autoimmune hemolytic anemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011478	autoimmune hemolytic anemia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011406	autoimmune hemolytic anemia, non-human animal		Autoimmune hemolytic anemia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011479	Becker type muscular dystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog		Becker type muscular dystrophy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011480	Becker type muscular dystrophy, DMD-related, pig	http://purl.obolibrary.org/obo/MONDO_1011435	Becker type muscular dystrophy, non-human animal, DMD-related, domestic cat		Becker type muscular dystrophy that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011481	beta-mannosidosis, MANBA-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010862	lysosomal storage disease, cattle		Beta-mannosidosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011482	beta-mannosidosis, MANBA-related, dog	http://purl.obolibrary.org/obo/MONDO_1011007	peripheral neuropathy, dog		Beta-mannosidosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011483	beta-mannosidosis, MANBA-related, goat	http://purl.obolibrary.org/obo/MONDO_1011432	beta-mannosidosis, non-human animal		Beta-mannosidosis that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011484	beta-mannosidosis, springbok	http://purl.obolibrary.org/obo/MONDO_1011432	beta-mannosidosis, non-human animal		Beta-mannosidosis that occurs in springbok.
http://purl.obolibrary.org/obo/MONDO_1011485	calcinosis circumscripta, dog	http://purl.obolibrary.org/obo/MONDO_1011416	calcinosis circumscripta, non-human animal		Calcinosis circumscripta that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011486	complement component 2 deficiency, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1011424	complement component 2 deficiency, non-human animal		Complement component 2 deficiency that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1011487	complement component 3 deficiency, C3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011421	complement component 3 deficiency, non-human animal		Complement component 3 deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011488	complement component 3 deficiency, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1011421	complement component 3 deficiency, non-human animal		Complement component 3 deficiency that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1011489	complement component 3 deficiency, rabbit	http://purl.obolibrary.org/obo/MONDO_1011421	complement component 3 deficiency, non-human animal		Complement component 3 deficiency that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011490	complement component 6 deficiency, rabbit	http://purl.obolibrary.org/obo/MONDO_1011423	complement component 6 deficiency, non-human animal		Complement component 6 deficiency that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011491	Diamond-Blackfan anemia, dog	http://purl.obolibrary.org/obo/MONDO_1011405	Diamond-Blackfan anemia, non-human animal		Diamond-Blackfan anemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011492	Ehlers-Danlos syndrome, American mink	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Ehlers-Danlos syndrome that occurs in American mink.
http://purl.obolibrary.org/obo/MONDO_1011493	Ehlers-Danlos syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Ehlers-Danlos syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011494	Ehlers-Danlos syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Ehlers-Danlos syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011495	Ehlers-Danlos syndrome, PPIB-related, horse	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Ehlers-Danlos syndrome that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011496	Ehlers-Danlos syndrome, rabbit	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Ehlers-Danlos syndrome that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011497	Ehlers-Danlos syndrome, sheep	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Ehlers-Danlos syndrome that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011498	enteropathy-associated T cell lymphoma, STAT5B-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010949	non-hodgkin lymphoma, domestic cat		Enteropathy-associated T cell lymphoma that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011499	epidermolysis bullosa simplex, cattle	http://purl.obolibrary.org/obo/MONDO_1010751	epidermolysis bullosa, cattle		Epidermolysis bullosa simplex that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011500	epidermolysis bullosa simplex, dog	http://purl.obolibrary.org/obo/MONDO_1010750	epidermolysis bullosa, dog		Epidermolysis bullosa simplex that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011501	epidermolysis bullosa simplex, water buffalo	http://purl.obolibrary.org/obo/MONDO_1011428	epidermolysis bullosa simplex, non-human animal		Epidermolysis bullosa simplex that occurs in water buffalo.
http://purl.obolibrary.org/obo/MONDO_1011502	Fanconi syndrome, SLC2A2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011448	Fanconi syndrome, non-human animal		Fanconi syndrome that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011503	Fanconi syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011448	Fanconi syndrome, non-human animal		Fanconi syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011504	Fanconi syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1011448	Fanconi syndrome, non-human animal		Fanconi syndrome that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011505	fibrocartilaginous embolic myelopathy, horse	http://purl.obolibrary.org/obo/MONDO_1011445	fibrocartilaginous embolic myelopathy, non-human animal		Fibrocartilaginous embolic myelopathy that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011507	Gaucher disease, dog	http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog		Gaucher disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011508	Gaucher disease, pig	http://purl.obolibrary.org/obo/MONDO_1011431	Gaucher disease, non-human animal		Gaucher disease that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011509	Gaucher disease, sheep	http://purl.obolibrary.org/obo/MONDO_1011431	Gaucher disease, non-human animal		Gaucher disease that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011510	glaucoma, dog	http://purl.obolibrary.org/obo/MONDO_1011457	glaucoma, non-human animal		Glaucoma that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011511	glaucoma, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011457	glaucoma, non-human animal		Glaucoma that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011512	glaucoma, horse	http://purl.obolibrary.org/obo/MONDO_1011457	glaucoma, non-human animal		Glaucoma that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011513	glaucoma, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Glaucoma that occurs in Japanese quail.
http://purl.obolibrary.org/obo/MONDO_1011514	glaucoma, owls	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Glaucoma that occurs in owls.
http://purl.obolibrary.org/obo/MONDO_1011515	glaucoma, primary closed-angle, dog	http://purl.obolibrary.org/obo/MONDO_1011510	glaucoma, dog		Glaucoma, primary closed-angle that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011516	glaucoma, rabbit	http://purl.obolibrary.org/obo/MONDO_1011457	glaucoma, non-human animal		Glaucoma that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011517	glaucoma, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1011457	glaucoma, non-human animal		Glaucoma that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1011518	glycogen storage disease, ring-tailed coati	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Glycogen storage disease that occurs in ring-tailed coati.
http://purl.obolibrary.org/obo/MONDO_1011519	hemophilia A, F8-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011408	hemophilia A, non-human animal		Hemophilia A that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011520	hemophilia A, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1011408	hemophilia A, non-human animal		Hemophilia A that occurs in crab-eating macaque.
http://purl.obolibrary.org/obo/MONDO_1011521	hemophilia A, F8-related, dog	http://purl.obolibrary.org/obo/MONDO_1011408	hemophilia A, non-human animal		Hemophilia A that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011522	hemophilia A, F8-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011408	hemophilia A, non-human animal		Hemophilia A that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011523	hemophilia A, horse	http://purl.obolibrary.org/obo/MONDO_1011408	hemophilia A, non-human animal		Hemophilia A that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011524	hemophilia A, pig	http://purl.obolibrary.org/obo/MONDO_1011408	hemophilia A, non-human animal		Hemophilia A that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011525	hemophilia A, F8-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011408	hemophilia A, non-human animal		Hemophilia A that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011526	hepatic lipidosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011429	hepatic lipidosis, non-human animal		Hepatic lipidosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011527	hepatic lipidosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011429	hepatic lipidosis, non-human animal		Hepatic lipidosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011528	histiocytosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011436	histiocytosis, non-human animal		Histiocytosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011529	histiocytosis, pig	http://purl.obolibrary.org/obo/MONDO_1011436	histiocytosis, non-human animal		Histiocytosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011530	hyperadrenocorticism, dog	http://purl.obolibrary.org/obo/MONDO_1011403	hyperadrenocorticism, non-human animal		Hyperadrenocorticism that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011531	hyperadrenocorticism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011403	hyperadrenocorticism, non-human animal		Hyperadrenocorticism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011532	hyperadrenocorticism, domestic ferret	http://purl.obolibrary.org/obo/MONDO_1011403	hyperadrenocorticism, non-human animal		Hyperadrenocorticism that occurs in domestic ferret.
http://purl.obolibrary.org/obo/MONDO_1011533	hyperadrenocorticism, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011403	hyperadrenocorticism, non-human animal		Hyperadrenocorticism that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1011534	hyperadrenocorticism, horse	http://purl.obolibrary.org/obo/MONDO_1011403	hyperadrenocorticism, non-human animal		Hyperadrenocorticism that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011535	hyperhomocysteinemia, dog	http://purl.obolibrary.org/obo/MONDO_1011420	hyperhomocysteinemia, non-human animal		Hyperhomocysteinemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011536	hyperkalemic periodic paralysis, SCN4A-related, horse	http://purl.obolibrary.org/obo/MONDO_1011433	hyperkalemic periodic paralysis, non-human animal		Hyperkalemic periodic paralysis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011537	hypertriglyceridemia, dog	http://purl.obolibrary.org/obo/MONDO_1011417	hypertriglyceridemia, non-human animal		Hypertriglyceridemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011538	hypertriglyceridemia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011417	hypertriglyceridemia, non-human animal		Hypertriglyceridemia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011539	hypokalaemic periodic paralysis, WNK4-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011434	hypokalaemic periodic paralysis, non-human animal		Hypokalaemic periodic paralysis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011540	hypokalaemic periodic paralysis, lion	http://purl.obolibrary.org/obo/MONDO_1011434	hypokalaemic periodic paralysis, non-human animal		Hypokalaemic periodic paralysis that occurs in lion.
http://purl.obolibrary.org/obo/MONDO_1011541	ichthyosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011427	ichthyosis, non-human animal		Ichthyosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011542	ichthyosis, greater kudu	http://purl.obolibrary.org/obo/MONDO_1011427	ichthyosis, non-human animal		Ichthyosis that occurs in greater kudu.
http://purl.obolibrary.org/obo/MONDO_1011543	idiopathic pulmonary fibrosis, dog	http://purl.obolibrary.org/obo/MONDO_1011451	idiopathic pulmonary fibrosis, non-human animal		Idiopathic pulmonary fibrosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011544	idiopathic pulmonary fibrosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011451	idiopathic pulmonary fibrosis, non-human animal		Idiopathic pulmonary fibrosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011545	immunoglobulin A glomerulonephropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011043	glomerulonephritis, dog		Immunoglobulin A glomerulonephropathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011546	intervertebral disc disease, dog	http://purl.obolibrary.org/obo/MONDO_1011452	intervertebral disc disease, non-human animal		Intervertebral disc disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011547	junctionalis epidermolysis bullosa, cattle	http://purl.obolibrary.org/obo/MONDO_1010751	epidermolysis bullosa, cattle		Junctionalis epidermolysis bullosa that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011548	junctionalis epidermolysis bullosa, dog	http://purl.obolibrary.org/obo/MONDO_1010750	epidermolysis bullosa, dog		Junctionalis epidermolysis bullosa that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011549	junctionalis epidermolysis bullosa, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011426	junctionalis epidermolysis bullosa , non-human animal		Junctionalis epidermolysis bullosa that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011550	Legg-Calvé-Perthes disease, dog	http://purl.obolibrary.org/obo/MONDO_1011171	osteochondrosis, dog		Legg-Calvé-Perthes disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011551	Legg-Calvé-Perthes disease, goat	http://purl.obolibrary.org/obo/MONDO_1011453	Legg-Calvé-Perthes disease, non-human animal		Legg-Calvé-Perthes disease that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011552	Legg-Calvé-Perthes disease, lesser panda	http://purl.obolibrary.org/obo/MONDO_1011453	Legg-Calvé-Perthes disease, non-human animal		Legg-Calvé-Perthes disease that occurs in lesser panda.
http://purl.obolibrary.org/obo/MONDO_1011553	Legg-Calvé-Perthes disease, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1011453	Legg-Calvé-Perthes disease, non-human animal		Legg-Calvé-Perthes disease that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1011554	ligneous membranitis, PLG-related, dog	http://purl.obolibrary.org/obo/MONDO_1011459	ligneous membranitis, non-human animal		Ligneous membranitis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011555	mast cell tumor, dog	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Mast cell tumor that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011556	medium-chain acyl-CoA dehydrogenase deficiency, ACADM-related, dog	http://purl.obolibrary.org/obo/MONDO_1011446	medium-chain acyl-CoA dehydrogenase deficiency, non-human animal		Medium-chain acyl-CoA dehydrogenase deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011557	metabolic syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1011404	metabolic syndrome, non-human animal		Metabolic syndrome that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011558	metabolic syndrome, pig	http://purl.obolibrary.org/obo/MONDO_1011404	metabolic syndrome, non-human animal		Metabolic syndrome that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011559	methemoglobinemia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011412	methemoglobinemia, non-human animal		Methemoglobinemia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011560	nephroma, ducks	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Nephroma that occurs in ducks.
http://purl.obolibrary.org/obo/MONDO_1011561	neuroaxonal dystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011444	neuroaxonal dystrophy, non-human animal		Neuroaxonal dystrophy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011562	neuroaxonal dystrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011444	neuroaxonal dystrophy, non-human animal		Neuroaxonal dystrophy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011563	neuroaxonal dystrophy, horse	http://purl.obolibrary.org/obo/MONDO_1011444	neuroaxonal dystrophy, non-human animal		Neuroaxonal dystrophy that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011564	neuroaxonal dystrophy, rabbit	http://purl.obolibrary.org/obo/MONDO_1011444	neuroaxonal dystrophy, non-human animal		Neuroaxonal dystrophy that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011565	neuroaxonal dystrophy, sheep	http://purl.obolibrary.org/obo/MONDO_1011444	neuroaxonal dystrophy, non-human animal		Neuroaxonal dystrophy that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011566	neurofibromatosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011437	neurofibromatosis, non-human animal		Neurofibromatosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011567	neurofibromatosis, teleost fishes	http://purl.obolibrary.org/obo/MONDO_1011437	neurofibromatosis, non-human animal		Neurofibromatosis that occurs in teleost fishes.
http://purl.obolibrary.org/obo/MONDO_1011568	neuronal ceroid lipofuscinosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010862	lysosomal storage disease, cattle		Neuronal ceroid lipofuscinosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011569	neuronal ceroid lipofuscinosis, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Neuronal ceroid lipofuscinosis that occurs in crab-eating macaque.
http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog	http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog		Neuronal ceroid lipofuscinosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011571	neuronal ceroid lipofuscinosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat		Neuronal ceroid lipofuscinosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011572	neuronal ceroid lipofuscinosis, domestic ferret	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Neuronal ceroid lipofuscinosis that occurs in domestic ferret.
http://purl.obolibrary.org/obo/MONDO_1011573	neuronal ceroid lipofuscinosis, goat	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Neuronal ceroid lipofuscinosis that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011574	neuronal ceroid lipofuscinosis, horse	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Neuronal ceroid lipofuscinosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011575	neuronal ceroid lipofuscinosis, mallard	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Neuronal ceroid lipofuscinosis that occurs in mallard.
http://purl.obolibrary.org/obo/MONDO_1011576	neuronal ceroid lipofuscinosis, peach-faced lovebird	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Neuronal ceroid lipofuscinosis that occurs in peach-faced lovebird.
http://purl.obolibrary.org/obo/MONDO_1011577	neuronal ceroid lipofuscinosis, pig	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Neuronal ceroid lipofuscinosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011578	neuronal ceroid lipofuscinosis, sheep	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Neuronal ceroid lipofuscinosis that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011579	nonspherocytic hemolytic anemia, dog	http://purl.obolibrary.org/obo/MONDO_1011407	nonspherocytic hemolytic anemia, non-human animal		Nonspherocytic hemolytic anemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011580	osteogenesis imperfecta, cattle	http://purl.obolibrary.org/obo/MONDO_1011454	osteogenesis imperfecta, non-human animal		Osteogenesis imperfecta that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011581	osteogenesis imperfecta, dog	http://purl.obolibrary.org/obo/MONDO_1011194	osteochondrodysplasia, dog		Osteogenesis imperfecta that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011582	osteogenesis imperfecta, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011195	osteochondrodysplasia, domestic cat		Osteogenesis imperfecta that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011583	osteogenesis imperfecta, sheep	http://purl.obolibrary.org/obo/MONDO_1011454	osteogenesis imperfecta, non-human animal		Osteogenesis imperfecta that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011584	paroxysmal nocturnal hemoglobinuria, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1011413	paroxysmal nocturnal hemoglobinuria, non-human animal		Paroxysmal nocturnal hemoglobinuria that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1011585	pituitary-dependent hyperadrenocorticism, dog	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Pituitary-dependent hyperadrenocorticism that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011586	pituitary-dependent hyperadrenocorticism, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Pituitary-dependent hyperadrenocorticism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011587	porphyria, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011418	porphyria, non-human animal		Porphyria that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011588	porphyria, pig	http://purl.obolibrary.org/obo/MONDO_1011418	porphyria, non-human animal		Porphyria that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011589	portosystemic shunt, cattle	http://purl.obolibrary.org/obo/MONDO_1011409	portosystemic shunt, non-human animal		Portosystemic shunt that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011590	portosystemic shunt, dog	http://purl.obolibrary.org/obo/MONDO_1011409	portosystemic shunt, non-human animal		Portosystemic shunt that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011591	portosystemic shunt, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011409	portosystemic shunt, non-human animal		Portosystemic shunt that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011592	portosystemic shunt, horse	http://purl.obolibrary.org/obo/MONDO_1011409	portosystemic shunt, non-human animal		Portosystemic shunt that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011593	portosystemic shunt, pig	http://purl.obolibrary.org/obo/MONDO_1011409	portosystemic shunt, non-human animal		Portosystemic shunt that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011594	rickets, horse	http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal		Rickets that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011595	rickets, pig	http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal		Rickets that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011596	severe combined immunodeficiency disease, PRKDC-related, dog	http://purl.obolibrary.org/obo/MONDO_1011422	severe combined immunodeficiency disease, non-human animal		Severe combined immunodeficiency disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011597	severe combined immunodeficiency disease, PRKDC-related, horse	http://purl.obolibrary.org/obo/MONDO_1011422	severe combined immunodeficiency disease, non-human animal		Severe combined immunodeficiency disease that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011598	type 1 diabetes mellitus, cattle	http://purl.obolibrary.org/obo/MONDO_1010578	diabetes mellitus, cattle		Type 1 diabetes mellitus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011599	type 1 diabetes mellitus, chimpanzee	http://purl.obolibrary.org/obo/MONDO_1011401	type 1 diabetes mellitus, non-human animal		Type 1 diabetes mellitus that occurs in chimpanzee.
http://purl.obolibrary.org/obo/MONDO_1011600	type 1 diabetes mellitus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010575	diabetes mellitus, domestic cat		Type 1 diabetes mellitus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011601	type 1 diabetes mellitus, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1010571	diabetes mellitus, domestic guinea pig		Type 1 diabetes mellitus that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1011602	type 2 diabetes mellitus, Chinese hamster	http://purl.obolibrary.org/obo/MONDO_1011402	type 2 diabetes mellitus, non-human animal		Type 2 diabetes mellitus that occurs in Chinese hamster.
http://purl.obolibrary.org/obo/MONDO_1011603	type 2 diabetes mellitus, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1011402	type 2 diabetes mellitus, non-human animal		Type 2 diabetes mellitus that occurs in crab-eating macaque.
http://purl.obolibrary.org/obo/MONDO_1011604	type 2 diabetes mellitus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010575	diabetes mellitus, domestic cat		Type 2 diabetes mellitus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011605	type 2 diabetes mellitus, pig	http://purl.obolibrary.org/obo/MONDO_1010577	diabetes mellitus, pig		Type 2 diabetes mellitus that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011606	vestibular disease, dog	http://purl.obolibrary.org/obo/MONDO_1011414	vestibular disease, non-human animal		Vestibular disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011607	vestibular disease, Sumatran tiger	http://purl.obolibrary.org/obo/MONDO_1011414	vestibular disease, non-human animal		Vestibular disease that occurs in Sumatran tiger.
http://purl.obolibrary.org/obo/MONDO_1011608	vitamin-K-dependent blood coagulation factors deficiency, dog	http://purl.obolibrary.org/obo/MONDO_1011410	vitamin-K-dependent blood coagulation factors deficiency, non-human animal		Vitamin-K-dependent blood coagulation factors deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011609	vitamin-K-dependent blood coagulation factors deficiency, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011410	vitamin-K-dependent blood coagulation factors deficiency, non-human animal		Vitamin-K-dependent blood coagulation factors deficiency that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011610	vitamin-K-dependent blood coagulation factors deficiency, sheep	http://purl.obolibrary.org/obo/MONDO_1011410	vitamin-K-dependent blood coagulation factors deficiency, non-human animal		Vitamin-K-dependent blood coagulation factors deficiency that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011611	Von Willebrand disease, cattle	http://purl.obolibrary.org/obo/MONDO_1011411	Von Willebrand disease, non-human animal		Von Willebrand disease that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011612	Von Willebrand disease, dog	http://purl.obolibrary.org/obo/MONDO_1011411	Von Willebrand disease, non-human animal		Von Willebrand disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011613	Von Willebrand disease, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011411	Von Willebrand disease, non-human animal		Von Willebrand disease that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011614	Von Willebrand disease, horse	http://purl.obolibrary.org/obo/MONDO_1011411	Von Willebrand disease, non-human animal		Von Willebrand disease that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011615	Von Willebrand disease, pig	http://purl.obolibrary.org/obo/MONDO_1011411	Von Willebrand disease, non-human animal		Von Willebrand disease that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011616	Von Willebrand disease, rabbit	http://purl.obolibrary.org/obo/MONDO_1011411	Von Willebrand disease, non-human animal		Von Willebrand disease that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011617	Waardenburg syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011447	Waardenburg syndrome, non-human animal		Waardenburg syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011618	Waardenburg syndrome, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011447	Waardenburg syndrome, non-human animal		Waardenburg syndrome that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1011619	Wilms tumor, cattle	http://purl.obolibrary.org/obo/MONDO_0700134	bovine neoplasm		Wilms tumour that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011620	Wilms tumor, dog	http://purl.obolibrary.org/obo/MONDO_1011439	Wilms tumor, non-human animal		Wilms tumour that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011621	Wilms tumor, pig	http://purl.obolibrary.org/obo/MONDO_1011439	Wilms tumor, non-human animal		Wilms tumour that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011622	Wilms tumor, sheep	http://purl.obolibrary.org/obo/MONDO_1011439	Wilms tumor, non-human animal		Wilms tumour that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011623	xanthinuria, dog	http://purl.obolibrary.org/obo/MONDO_1011450	xanthinuria, non-human animal		Xanthinuria that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011624	xanthinuria, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011450	xanthinuria, non-human animal		Xanthinuria that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011625	xanthinuria, goat	http://purl.obolibrary.org/obo/MONDO_1011450	xanthinuria, non-human animal		Xanthinuria that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011672	hydrallantois, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		A gestational disease affecting pregnant animals characterized by excessive accumulation of fluid within the allantoic cavity and associated with fetal and placental abnormalities and fetal mortality.
http://purl.obolibrary.org/obo/MONDO_1011928	laryngeal paralysis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		A respiratory disorder characterized by an inability to abduct the arytenoid cartilages during inspiration resulting in a partial to complete airway obstruction and consequent respiratory distress.
http://purl.obolibrary.org/obo/MONDO_1030003	Mycoplasmoides infection	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		A disease caused by infection with Mycoplasmoides.
http://purl.obolibrary.org/obo/MONDO_0700282	POLR3-related leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0100605	POLR-related leukodystrophy		Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
http://purl.obolibrary.org/obo/MONDO_1040053	PROM1-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_1040056	PROM1-related retinopathy		Any retinopathy caused by an autosomal dominant variant in the PROM1 gene.
http://purl.obolibrary.org/obo/MONDO_1012585	neonatal cerebellar ataxia, GRM1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs dogs due to a mutation in the GRM1 gene.
http://purl.obolibrary.org/obo/MONDO_1012605	glycogen storage disease IV, dog	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in dogs due to a glycogen branching enzyme (GBE) deficiency.
http://purl.obolibrary.org/obo/MONDO_1012606	glycogen storage disease IV, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in cats due to a mutation in the GBE1 gene.
http://purl.obolibrary.org/obo/MONDO_1012607	glycogen storage disease IV, horse	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in horses due to a mutation in the GBE1 gene.
http://purl.obolibrary.org/obo/MONDO_1012608	fasting unconjugated hyperbilirubinemia, Bolivian squirrel monkey	http://purl.obolibrary.org/obo/MONDO_1012974	hyperbilirubinemia, non-human animal		Any unconjugated hyperbilirubinemia due to an increase in the bilirubin turnover/production rate and/or decreased hepatic conjugation during fasting that occurs in Bolivian squirrel monkey.
http://purl.obolibrary.org/obo/MONDO_1012609	unconjugated hyperbilirubinemia, horse	http://purl.obolibrary.org/obo/MONDO_1012974	hyperbilirubinemia, non-human animal		Unconjugated hyperbilirubinemia that occurs in horses.
http://purl.obolibrary.org/obo/MONDO_1012611	conjugated hyperbilirubinemia, sheep	http://purl.obolibrary.org/obo/MONDO_1012974	hyperbilirubinemia, non-human animal		A liver disorder characterized by chronic conjugated hyperbilirubinemia and gross dark brown to black discoloration of the liver that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1012612	conjugated hyperbilirubinemia, golden lion tamarin	http://purl.obolibrary.org/obo/MONDO_1012974	hyperbilirubinemia, non-human animal		A liver disorder characterized by chronic conjugated hyperbilirubinemia and abundant intrahepatic pigment in a centrilobular and midzonal distribution that occurs in golden lion tamarins.
http://purl.obolibrary.org/obo/MONDO_1012613	intestinal cobalamin (vitamin B12) malabsorption, AMN-related, dog	http://purl.obolibrary.org/obo/MONDO_1012451	intestinal cobalamin (vitamin B12) malabsorption, dog		Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the AMN gene.
http://purl.obolibrary.org/obo/MONDO_1012614	membranoproliferative glomerulonephritis, CFH-related, pig	http://purl.obolibrary.org/obo/MONDO_1010258	glomerulonephritis, non-human animal		Form of glomerulonephritis that occurs in pigs, is characterized by glomerular hypercellularity and thickening of the glomerular capillary walls and glomerular basement membrane due to large amounts of dense deposits, and is caused by an absence of omplement regulator factor H.
http://purl.obolibrary.org/obo/MONDO_1012615	mesangiocapillary glomerulonephritis, type I, sheep	http://purl.obolibrary.org/obo/MONDO_1011421	complement component 3 deficiency, non-human animal		A form of glomerulonephritis that occurs in sheep and is characterized by thickening of glomerular capillary basement membranes, proliferation of mesangial cells, and peri-glomerular fibrosis and associated with C3 deficiency.
http://purl.obolibrary.org/obo/MONDO_1012616	microphthalmia-4, chicken	http://purl.obolibrary.org/obo/MONDO_1011237	microphthalmia, chicken		Inherited microphthalmia that occurs in female chickens.
http://purl.obolibrary.org/obo/MONDO_1012617	mucopolysaccharidosis I, dog	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any lysosomal storage disorder that occurs in dogs due to a mutation in the IDUA gene.
http://purl.obolibrary.org/obo/MONDO_1012618	mucopolysaccharidosis I, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any lysosomal storage disorder that occurs in cats due to a mutation in the IDUA gene.
http://purl.obolibrary.org/obo/MONDO_1012645	nephritis, COL4A5-related, dog	http://purl.obolibrary.org/obo/MONDO_1011045	nephritis, dog		Nephritis that occurs in male dogs due to a mutation in the COL4A5 gene.
http://purl.obolibrary.org/obo/MONDO_1012646	autosomal dominant nephritis, dog	http://purl.obolibrary.org/obo/MONDO_1011045	nephritis, dog		Autosomal dominant form of nephritis that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012660	mucolipidosis, GNPTAB-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat		Mucolipidosis that occurs in cats due to a mutation in the GNPTAB gene.
http://purl.obolibrary.org/obo/MONDO_1012664	mucopolysaccharidosis II, Kaka	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in kakas.
http://purl.obolibrary.org/obo/MONDO_1012665	mucopolysaccharidosis II, dog	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012666	hereditary footpad hyperkeratosis, FAM83G-related, dog	http://purl.obolibrary.org/obo/MONDO_1012976	hyperkeratosis, non-human animal		An orthokeratotic palmoplantar hyperkeratosis leading to thickened and hardened footpads that occurs in dogs starting at an age of 18 to 24 weeks of age due to a mutation in the FAM83G gene.
http://purl.obolibrary.org/obo/MONDO_1012669	mucopolysaccharidosis IIIB, emu	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any lysosomal storage disorder that occurs in emu due to a mutation in the NAGLU gene.
http://purl.obolibrary.org/obo/MONDO_1012670	mucopolysaccharidosis IIIB, dog	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any lysosomal storage disorder that occurs in dogs due to a mutation in the NAGLU gene.
http://purl.obolibrary.org/obo/MONDO_1012671	mucopolysaccharidosis IIIB, pig	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any lysosomal storage disorder that occurs in pigs due to a mutation in the NAGLU gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012672	mucopolysaccharidosis IIIB, cattle	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any lysosomal storage disorder that occurs in cattle due to a mutation in the NAGLU gene.
http://purl.obolibrary.org/obo/MONDO_1012692	canine multiple system degeneration, SERAC1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		A progressive hereditary neurodegenerative disorder that occurs in dogs and is characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei due to a mutation in the SERAC1 gene.
http://purl.obolibrary.org/obo/MONDO_1012693	melanoma-bearing Libechov minipig, pig	http://purl.obolibrary.org/obo/MONDO_1012162	congenital melanoma, pig		Hereditary melanoma that occurs in melanoma-bearing Libechov minipipgs due to selective breeding for the purpose of creating a swine model of hereditary metastatic melanoma.
http://purl.obolibrary.org/obo/MONDO_1012699	lysosomal storage disease, ARSG related, dog	http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog		Any lysosomal storage disease that occurs in dogs due to a mutation in the ARSG gene.
http://purl.obolibrary.org/obo/MONDO_1012711	immunodeficiency syndrome, SLC5A3-related, horse	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Immunodeficiency characterized by B-lymphocyte lymphopenia and progressive anemia that occurs in horses due to a mutation in the SLC5A3 gene.
http://purl.obolibrary.org/obo/MONDO_1012712	ichthyosis, PNPLA1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Ichthyosis that occurs in dogs due to a mutation in the PNPLA1 gene.
http://purl.obolibrary.org/obo/MONDO_1012718	muscular dystrophy with reduced β-sarcoglycan, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010912	muscular dystrophy, domestic cat		Any muscular dystrophy associated with β-sarcoglycan deficiency that occurs in cats.
http://purl.obolibrary.org/obo/MONDO_1012723	junctional epidermolysis bullosa, LAMA3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011548	junctionalis epidermolysis bullosa, dog		Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMA3 gene.
http://purl.obolibrary.org/obo/MONDO_1012724	junctional epidermolysis bullosa, LAMA3-related, horse	http://purl.obolibrary.org/obo/MONDO_1011426	junctionalis epidermolysis bullosa , non-human animal		Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMA3 gene.
http://purl.obolibrary.org/obo/MONDO_1012725	junctional epidermolysis bullosa, LAMA3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011547	junctionalis epidermolysis bullosa, cattle		Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMA3 gene.
http://purl.obolibrary.org/obo/MONDO_1012726	junctional epidermolysis bullosa, LAMC2-related, horse	http://purl.obolibrary.org/obo/MONDO_1011426	junctionalis epidermolysis bullosa , non-human animal		Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMC2 gene.
http://purl.obolibrary.org/obo/MONDO_1012727	junctional epidermolysis bullosa, LAMC2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011547	junctionalis epidermolysis bullosa, cattle		Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMC2 gene.
http://purl.obolibrary.org/obo/MONDO_1012728	junctional epidermolysis bullosa, LAMC2-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011426	junctionalis epidermolysis bullosa , non-human animal		Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the LAMC2 gene.
http://purl.obolibrary.org/obo/MONDO_1012730	hemifacial microsomia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Any congenital malformation syndrome presenting with unilateral craniofacial abnormalities that occurs in cats.
http://purl.obolibrary.org/obo/MONDO_1012737	intestinal cobalamin (vitamin B12) malabsorption, CUBN-related, dog	http://purl.obolibrary.org/obo/MONDO_1012451	intestinal cobalamin (vitamin B12) malabsorption, dog		Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the CUBN gene.
http://purl.obolibrary.org/obo/MONDO_1012758	junctional epidermolysis bullosa, ITGB4-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011547	junctionalis epidermolysis bullosa, cattle		Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the ITGB4 gene.
http://purl.obolibrary.org/obo/MONDO_1012759	junctional epidermolysis bullosa, ITGB4-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011426	junctionalis epidermolysis bullosa , non-human animal		Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the ITGB4 gene.
http://purl.obolibrary.org/obo/MONDO_1012776	atherosclerosis, APOE-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1010008	atherosclerosis, non-human animal		Atherosclerosis that occurs in rabbits due to a mutation in the APOE gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012786	ichthyosis, ASPRV1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Ichthyosis that occurs in dogs due to a mutation in the ASPRV1 gene.
http://purl.obolibrary.org/obo/MONDO_1012792	hypotrichosis, KRT71-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012977	congenital hypotrichosis, non-human animal		Congenital hypotrichosis that occurs in cattle due to a mutation in the KRT71 gene.
http://purl.obolibrary.org/obo/MONDO_1012801	Leigh syndrome, SURF1-related, pig	http://purl.obolibrary.org/obo/MONDO_1011332	mitochondrial disease, non-human animal		A mitochondrial disease characterized by central nervous system development delay that occurs in pigs due to a mutation in the SURF1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012804	hereditary nonpolyposis colorectal cancer, MSH6-related, rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Tumors at the ileocecal junction, cecum and proximal colon that occur in rhesus macaques due to a germline mutation in the MSH6 gene.
http://purl.obolibrary.org/obo/MONDO_1012809	hypertrophic cardiomyopathy, MYH7-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010459	hypertrophic cardiomyopathy, domestic cat		Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the MYH7 gene.
http://purl.obolibrary.org/obo/MONDO_1012810	hypertrophic cardiomyopathy, MYH7-related, pig	http://purl.obolibrary.org/obo/MONDO_1010460	hypertrophic cardiomyopathy, pig		Hypertrophic cardiomyopathy that occurs in pigs due to a mutation in the MYH7 gene.
http://purl.obolibrary.org/obo/MONDO_1012811	hypertrophic cardiomyopathy, MYH7-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1010015	hypertrophic cardiomyopathy, non-human animal		Hypertrophic cardiomyopathy that occurs in rabbits due to a mutation in the MYH7 gene.
http://purl.obolibrary.org/obo/MONDO_1012812	leukodystrophy, TSEN54-related, dog	http://purl.obolibrary.org/obo/MONDO_1011005	leukodystrophy, dog		Leukodystrophy that occurs in dogs due to a mutation in the TSEN54 gene.
http://purl.obolibrary.org/obo/MONDO_1012814	hypogonadotropic hypogonadism, TAC3-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010276	hypogonadism, non-human animal		Hypogonadism characterized by dysfunctional GnRH release leading to low blood testosterone and pituitary hormone levels and impaired testicular function that occurs in cats due to a mutation in the TAC3 gene.
http://purl.obolibrary.org/obo/MONDO_1012815	laryngeal paralysis, RAPGEF6-related, dog	http://purl.obolibrary.org/obo/MONDO_1012322	laryngeal paralysis, dog		Laryngeal paralysis that occurs in dogs due to a mutation in the RAPGEF6 gene.
http://purl.obolibrary.org/obo/MONDO_1012816	lipid malabsorption, ACSL5-related, dog	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		An inborn error of lipid metabolism characterized by stunted postnatal growth, steatorrhea, abdominal distension and wiry coat that occurs in dogs due to a mutation in the ACSL5 gene.
http://purl.obolibrary.org/obo/MONDO_1012818	hypotrichosis, HR-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012977	congenital hypotrichosis, non-human animal		Congenital hypotrichosis that occurs in cats due to a mutation in the HR gene.
http://purl.obolibrary.org/obo/MONDO_1012819	hypotrichosis, HR-related, pig	http://purl.obolibrary.org/obo/MONDO_1012977	congenital hypotrichosis, non-human animal		Congenital hypotrichosis that occurs in pigs due to a mutation in the HR gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012820	hypotrichosis, HR-related, sheep	http://purl.obolibrary.org/obo/MONDO_1012977	congenital hypotrichosis, non-human animal		Congenital hypotrichosis that occurs in sheep due to a mutation in the HR gene.
http://purl.obolibrary.org/obo/MONDO_1012821	hypotrichosis, HEPHL1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012977	congenital hypotrichosis, non-human animal		Congenital hypotrichosis that occurs in cattle due to a mutation in the HEPHL1 gene.
http://purl.obolibrary.org/obo/MONDO_1012822	congenital myopathy, SPTBN4-related, pig	http://purl.obolibrary.org/obo/MONDO_1010196	congenital myopathy, non-human animal		Any congenital myopathy that occurs in pigs due to a mutation in the SPTBN4 gene.
http://purl.obolibrary.org/obo/MONDO_1012825	ichthyosis, ABCA12-related, pig	http://purl.obolibrary.org/obo/MONDO_1011427	ichthyosis, non-human animal		Ichthyosis that occurs in pigs due to a mutation in the ABCA12 gene.
http://purl.obolibrary.org/obo/MONDO_1012826	ichthyosis, ABCA12-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011541	ichthyosis, cattle		Ichthyosis that occurs in cattle due to a mutation in the ABCA12 gene.
http://purl.obolibrary.org/obo/MONDO_1012828	muscular dystrophy, ANO5-related, rabbit	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Any muscular dystrophy that occurs in rabbits due to a mutation in the ANO5 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012829	ichthyosis, DSP-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011541	ichthyosis, cattle		Ichthyosis that occurs in cattle due to a mutation in the DSP gene.
http://purl.obolibrary.org/obo/MONDO_1012834	junctional epidermolysis bullosa, LAMB3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011548	junctionalis epidermolysis bullosa, dog		Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMB3 gene.
http://purl.obolibrary.org/obo/MONDO_1012841	muscular dystrophy, TNNT1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010913	muscular dystrophy, sheep		Any muscular dystrophy that occurs in sheep due to a mutation in the TNNT1 gene.
http://purl.obolibrary.org/obo/MONDO_1012846	laryngeal paralysis and polyneuropathy, CNTNAP1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012322	laryngeal paralysis, dog		Laryngeal paralysis with variable dysphagia, dysphonia, high-stepping and uncoordinated gait, exercise intolerance, stumbling and tripping, and limb muscle atrophy that occurs in dogs due to a mutation in the CNTNAP1 gene.
http://purl.obolibrary.org/obo/MONDO_1012849	limb-girdle muscular dystrophy, SGCA-related, dog	http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog		Any muscular dystrophy that occurs in dogs due to a mutation in the SGCA gene.
http://purl.obolibrary.org/obo/MONDO_1012859	hypertrophic cardiomyopathy, ALMS1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010459	hypertrophic cardiomyopathy, domestic cat		Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the ALMS1 gene.
http://purl.obolibrary.org/obo/MONDO_1012866	hypercholesterolemia, PCSK9-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1012975	hyperlipidemia, non-human animal		Hypercholesterolemia that occurs in rabbits due to a mutation in the PCSK9 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012868	long QT syndrome, KCNQ1-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNQ1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012869	long QT syndrome, KCNH2-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Any heart disorder characterized by pathologically prolonged ventricular action potential duration with sudden cardiac death due to polymorphic vetricular tachycardia that occurs in rabbits due to a mutation in the KCNH2 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012870	long QT syndrome, KCNE1-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNE1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012879	ichthyosis, ABHD5-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Ichthyosis that occurs in dogs due to a mutation in the ABHD5 gene.
http://purl.obolibrary.org/obo/MONDO_1012880	motor neuron disease, TMCO6-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011868	motor neuron disease, non-human animal		Motor neuron disease that occurs in sheep due to a mutation in the TMCO6 gene.
http://purl.obolibrary.org/obo/MONDO_1012881	microcephaly, MFSD2A-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010618	microcephaly, sheep		Microcephaly that occurs in sheep due to a mutation in the MFSD2A gene.
http://purl.obolibrary.org/obo/MONDO_1012893	ichthyosis, KRT1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Ichthyosis that occurs in dogs due to a mutation in the KRT1 gene.
http://purl.obolibrary.org/obo/MONDO_1012899	hydrallantois, SLC12A1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012503	hydrallantois, cattle		Hydrallantois that occurs in cattle due to a mutation in the SLC12A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012901	ichthyosis, FA2H-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011541	ichthyosis, cattle		Ichthyosis that occurs in cattle due to a mutation in the FA2H gene.
http://purl.obolibrary.org/obo/MONDO_1012902	hair shaft dysplasia, DSG4-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		A disorder characterized by bulbous swellings of the hair shafts and hypotrichosis that occurs in cats due to a mutation in the DSG4 gene.
http://purl.obolibrary.org/obo/MONDO_1012905	hypoparathyroidism, RAPGEF5-related, horse	http://purl.obolibrary.org/obo/MONDO_1010600	hypoparathyroidism, horse		Hypoparathyroidism that occurs in horses due to a mutation in the RAPGEF5 gene. Affected foals present with hypocalcemia, tetany and seizures.
http://purl.obolibrary.org/obo/MONDO_1012907	muscular dystrophy-dystroglycanopathy, LARGE1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog		Any muscular dystrophy due to abnormal glycosylation of α-dystroglycan that occurs in dogs due to a mutation in the LARGE1 gene.
http://purl.obolibrary.org/obo/MONDO_1012937	Lewy body-like disease, CADPS2-related, yellow-crowned parrot	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		A neurodegenerative disease characterized by severe ataxia, rigidity, and tremor with neuronal loss, spongiosis, and widespread Lewy body-like inclusions in many regions of the brain including the midbrain, basal ganglia, and neocortex that occurs in yellow-crowned parrot due to a mutation in the CADPS2 gene.
http://purl.obolibrary.org/obo/MONDO_1012942	lysosomal storage disease, CNP-related, dog	http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog		Any lysosomal storage disease that occurs in dogs due to a mutation in the CNP gene.
http://purl.obolibrary.org/obo/MONDO_1012974	hyperbilirubinemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Hyperbilirubinemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012975	hyperlipidemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Hyperlipidemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012976	hyperkeratosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Hyperkeratosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012977	congenital hypotrichosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Congenital hypotrichosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog	http://purl.obolibrary.org/obo/MONDO_1011427	ichthyosis, non-human animal		Ichthyosis that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Inborn errors of metabolism that occur in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012980	mucolipidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Mucolipidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Anemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Heart disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/ENVO_09200012	temperature of soil	http://purl.obolibrary.org/obo/ENVO_09200000	temperature of environmental material		The temperature of some soil.
http://purl.obolibrary.org/obo/ENVO_09200013	wetness of soil	http://purl.obolibrary.org/obo/PATO_0001822	wetness		The wetness of some soil.
http://purl.obolibrary.org/obo/CHEBI_139588	alpha-hydroxy ketone	http://purl.obolibrary.org/obo/CHEBI_17087	ketone		A ketone containing a hydroxy group on the α-carbon relative to the C=O group.
http://purl.obolibrary.org/obo/CHEBI_139590	primary alpha-hydroxy ketone	http://purl.obolibrary.org/obo/CHEBI_139588	alpha-hydroxy ketone		An α-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH<small><sub>2</sub></small> (methylene) group.
http://purl.obolibrary.org/obo/MONDO_0024582	male reproductive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0006054	reproductive system neoplasm		A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.
http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to drug.
http://purl.obolibrary.org/obo/MONDO_0024352	viral respiratory tract infection	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.
http://purl.obolibrary.org/obo/MONDO_0024432	nerve plexus disorder	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		A disease that involves the nerve plexus.
http://purl.obolibrary.org/obo/MONDO_0024467	apocrine sweat gland disorder	http://purl.obolibrary.org/obo/MONDO_0006615	sweat gland disorder		A disease that involves the apocrine sweat gland.
http://purl.obolibrary.org/obo/MONDO_0024476	epithelial neoplasm of rectum	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A epithelial neoplasm that involves the rectum.
http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0024479	epithelial tumor of colon	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A epithelial neoplasm that involves the colon.
http://purl.obolibrary.org/obo/MONDO_0024481	skin appendage disorder	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		A disease that involves the cutaneous appendage.
http://purl.obolibrary.org/obo/MONDO_0024487	nail infection	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infectious process affecting the nail.
http://purl.obolibrary.org/obo/MONDO_0024491	tumor grade 1, general grading system	http://purl.obolibrary.org/obo/MONDO_0024495	tumor grade 1 or 2, general grading system		A morphologic qualifier indicating that a cancerous lesion is well differentiated.
http://purl.obolibrary.org/obo/MONDO_0024499	vascular bone neoplasm	http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm		A benign, intermediate, or malignant vascular neoplasm that arises from the bone.
http://purl.obolibrary.org/obo/MONDO_0024503	digestive system neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).
http://purl.obolibrary.org/obo/MONDO_0100014	autoimmune retinopathy	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.
http://purl.obolibrary.org/obo/MONDO_0024482	eccrine sweat gland hamartoma	http://purl.obolibrary.org/obo/MONDO_0021539	hamartoma of skin appendage		A hamartoma characterized by localized eccrine sweat gland malformation.
http://purl.obolibrary.org/obo/MONDO_0024492	tumor grade 2, general grading system	http://purl.obolibrary.org/obo/MONDO_0024496	tumor grade 2 or 3, general grading system		A morphologic qualifier indicating that a cancerous lesion is moderately differentiated.
http://purl.obolibrary.org/obo/MONDO_0024497	tumor grade 3 or 4, general grading system	http://purl.obolibrary.org/obo/MONDO_0024489	general tumor grading characteristic		Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive.
http://purl.obolibrary.org/obo/MONDO_0024419	enthesitis	http://purl.obolibrary.org/obo/MONDO_0002183	enthesopathy		Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.
http://purl.obolibrary.org/obo/MONDO_0024494	tumor grade 4, general grading system	http://purl.obolibrary.org/obo/MONDO_0024497	tumor grade 3 or 4, general grading system		A morphologic qualifier indicating that a cancerous lesion is undifferentiated.
http://purl.obolibrary.org/obo/MONDO_0043759	abdominal ectopic pregnancy	http://purl.obolibrary.org/obo/MONDO_0000755	ectopic pregnancy		Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.
http://purl.obolibrary.org/obo/MONDO_0044334	connective and soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.
http://purl.obolibrary.org/obo/MONDO_0024622	thyroid gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	thyroid gland carcinoma		An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).
http://purl.obolibrary.org/obo/MONDO_0024636	inflammation of heart layer	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		An inflammatory disease involving a pathogenic inflammatory response in the heart layer.
http://purl.obolibrary.org/obo/MONDO_0024643	myocardial disorder	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0024883	metastatic neoplasm	http://purl.obolibrary.org/obo/MONDO_0024882	secondary neoplasm		A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.
http://purl.obolibrary.org/obo/MONDO_0024885	malignant ovarian serous tumor	http://purl.obolibrary.org/obo/MONDO_0037255	ovarian serous tumor		An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma.
http://purl.obolibrary.org/obo/MONDO_0037745	fibromyxoid tumor	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.
http://purl.obolibrary.org/obo/MONDO_0037847	vertebral joint disorder	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		A disease that involves the intervertebral joint.
http://purl.obolibrary.org/obo/MONDO_0037871	amino acid metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A disease that has its basis in the disruption of cellular amino acid metabolic process.
http://purl.obolibrary.org/obo/MONDO_0041806	drug-resistant tuberculosis	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.
http://purl.obolibrary.org/obo/MONDO_0044919	malignant renal pelvis neoplasm	http://purl.obolibrary.org/obo/MONDO_0003719	renal pelvis neoplasm		A primary or metastatic malignant neoplasm that affects the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0044983	benign lipomatous neoplasm	http://purl.obolibrary.org/obo/MONDO_0021354	tumor of adipose tissue		A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.
http://purl.obolibrary.org/obo/MONDO_0044993	sympathetic nervous system disorder	http://purl.obolibrary.org/obo/MONDO_0001292	autonomic nervous system disorder		A disease or disorder that involves the sympathetic nervous system.
http://purl.obolibrary.org/obo/MONDO_0045024	cancer or benign tumor	http://purl.obolibrary.org/obo/MONDO_7770008	disease by etiologic mechanism		Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.
http://purl.obolibrary.org/obo/MONDO_0056806	non-small cell squamous lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0005233	non-small cell lung carcinoma		A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0100035	structural epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		A type of epilepsy that is conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.
http://purl.obolibrary.org/obo/MONDO_0044209	disorder of lectin complement activation pathway	http://purl.obolibrary.org/obo/MONDO_0003832	complement deficiency		A disease that has its basis in the disruption of complement activation, lectin pathway.
http://purl.obolibrary.org/obo/MONDO_0054865	encephalopathy due to mitochondrial and peroxisomal fission defect	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.
http://purl.obolibrary.org/obo/MONDO_0054868	meconium ileus	http://purl.obolibrary.org/obo/MONDO_0004567	ileus		Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.
http://purl.obolibrary.org/obo/MONDO_0100040	FOXG1 disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A monogenic disease that has material basis in mutation in the FOXG1 gene.
http://purl.obolibrary.org/obo/MONDO_0020693	glycogen storage disease due to liver phosphorylase kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
http://purl.obolibrary.org/obo/HP_0020119	Abnormal retinal nerve fiber layer morphology	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		A structural abnormality of the retinal nerve fiber layer
http://purl.obolibrary.org/obo/MONDO_0700054	microcephaly 6 with or without short stature	http://purl.obolibrary.org/obo/MONDO_0100346	microcephaly with or without short stature		Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.
http://purl.obolibrary.org/obo/CL_4023062	dentate gyrus neuron	http://purl.obolibrary.org/obo/CL_0002608	hippocampal neuron		A neuron with its soma located in the dentate gyrus of the hippocampus.
http://purl.obolibrary.org/obo/MONDO_1060200	primary hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_0004425	hyperthyroidism		A form of hyperthyroidism caused by overproduction of thyroid hormones (T3 and T4) due to pathology within the thyroid gland itself. Primary hyperthyroidism is characterized by low TSH levels and elevated T3/T4 levels.
http://purl.obolibrary.org/obo/MONDO_1060204	menstrual disorder	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A disorder of the female reproductive system characterized by abnormalities in the menstrual cycle, including disturbances in timing, flow, or associated pain.
http://purl.obolibrary.org/obo/MONDO_1060198	ischemic stroke	http://purl.obolibrary.org/obo/MONDO_0005098	stroke disorder		A stroke disorder caused by obstruction of blood flow to the brain, due to thrombotic (local blood clot formation) or embolic (due to a blood clot or other material traveling from another site) event.
http://purl.obolibrary.org/obo/MONDO_1060201	secondary hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_0004425	hyperthyroidism		A form of hyperthyroidism caused by overproduction of thyroid hormones (T3 and T4) due to pathology outside of the thyroid gland, namely in the hypothalamus or pituitary gland. Secondary hyperthyroidism is characterized by elevated TSH levels and elevated T3/T4 levels.
http://purl.obolibrary.org/obo/MONDO_1060199	hemorrhagic stroke	http://purl.obolibrary.org/obo/MONDO_0005098	stroke disorder		A stroke disorder caused by bleeding into the brain parenchyma or surrounding spaces. Hemorrhagic stroke includes intracerebral hemorrhage (bleeding within the brain tissue) and subarachnoid hemorrhage (bleeding in the space between the brain and the surrounding membrane).
http://purl.obolibrary.org/obo/MONDO_7770004	CFTR-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A disease associated with CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction that does not fulfill the diagnostic criteria for cystic fibrosis (CF). CFTR-related disorders are characterized by clinical evidence of CFTR dysfunction limited to a single organ system, a sweat chloride concentration below the CF diagnostic threshold (typically less than 60 mmol/L), and CFTR genotypes that often include at least one variant not classified as CF-causing. Recognized CFTR-related disorders include congenital bilateral absence of the vas deferens (CBAVD), acute recurrent or chronic pancreatitis, and disseminated bronchiectasis.
http://purl.obolibrary.org/obo/MONDO_1060192	CASK-related intellectual disability	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		A syndromic disorder in which the cause of the disease is a variation in the CASK gene. It is associated with a wide phenotypic spectrum ranging from mild-to-severe intellectual disability with or without nystagmus to moderate-to-profound intellectual disability and progressive microcephaly with pontine and cerebellar hypoplasia, often associated with seizures.
http://purl.obolibrary.org/obo/MONDO_0979259	triglyceride deposit cardiomyovasculopathy	http://purl.obolibrary.org/obo/MONDO_0015611	neutral lipid storage disease		A rare cardiovascular disorder characterized by defective intracellular lipolysis of long-chain triglycerides (LCTG), resulting in heart failure and diffuse atherosclerosis.
http://purl.obolibrary.org/obo/MONDO_0700385	Camurati-Engelmann disease type 1	http://purl.obolibrary.org/obo/MONDO_0007542	Camurati-Engelmann disease		A Camurati-Engelmann disease caused by a variation in the TGFB1 gene.
http://purl.obolibrary.org/obo/MONDO_0700386	enhanced S-cone syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100288	enhanced S-cone syndrome		An enhanced S-cone syndrome caused by a variation in the NRL gene.
http://purl.obolibrary.org/obo/MONDO_0700388	cardiac conduction disease with or without dilated cardiomyopathy 1	http://purl.obolibrary.org/obo/MONDO_0980715	cardiac conduction disease with or without cardiomyoopathy		A hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease caused by a variation in the TNNI3K gene.
http://purl.obolibrary.org/obo/MONDO_0980715	cardiac conduction disease with or without cardiomyoopathy	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.
http://purl.obolibrary.org/obo/MONDO_0700389	cardiac conduction disease with or without cardiomyopathy 2	http://purl.obolibrary.org/obo/MONDO_0980715	cardiac conduction disease with or without cardiomyoopathy		A hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease caused by a variation in the POPDC2 gene.
http://purl.obolibrary.org/obo/MONDO_0979257	isolated anogenital granulomatosis	http://purl.obolibrary.org/obo/MONDO_0021166	inflammatory disease		A rare urogenital disease characterized by the presence of granulomas in the genital or anoperineal area presenting with painless swelling, inflammation, ulcers and lymphoedema. It is usually associated with a history of recurrent perianal or genital lesions.
http://purl.obolibrary.org/obo/MONDO_0979258	cerebral proliferative angiopathy	http://purl.obolibrary.org/obo/MONDO_0024291	vascular malformation		A rare arteriovenous malformation characterized by seizures, disabling headaches, and stroke-like symptoms with progressive neurological deficits due to a proliferative response to chronic parenchymal ischaemia. Normal brain parenchyma is interspersed throughout the vascular malformation. Hemorrhagic presentations are uncommon; however, when present, the risk of reccurence is higher in such patients than in those with classic cerebral arteriovenous malformation.
http://purl.obolibrary.org/obo/MONDO_0979326	Fontan-associated liver disease	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		Chronic disease that occur as a complication of the Fontan procedure, a palliative surgery for patients with congenital heart disease that results in a single-ventricle circulation.
http://purl.obolibrary.org/obo/MONDO_0979335	fibro-adipose vascular anomaly	http://purl.obolibrary.org/obo/MONDO_0024291	vascular malformation		A rare vascular malformation characterized by fibro-adipose and venous tissue with diffuse muscle infiltration and extension along fascial planes, most often affecting the calf and forearm. Major clinical features include severe and persistent pain, phlebectasia, contractures, joint deformity as well as muscle atrophy. The skin is usually unremarkable.
http://purl.obolibrary.org/obo/MONDO_1060193	X-linked intellectual disability with or without nystagmus	http://purl.obolibrary.org/obo/MONDO_1060192	CASK-related intellectual disability		An X-linked intelelctual disability in which the cause of the disease is hypomorphic CASK pathogenic variants. Affected individuals present with intellectual disability with or without congenital nystagmus. Additional features often include epilepsy, speech impairment, motor delay, and variable brain malformations. Phenotypic severity ranges from mild cognitive impairment to severe developmental disability.
http://purl.obolibrary.org/obo/MONDO_1060197	congenital heart disease with heterotaxy syndrome	http://purl.obolibrary.org/obo/MONDO_0100614	syndromic congenital heart disease		A heart disease that is present at birth that occurs with variable extracardiac laterality defects. Features of visceral heterotaxy are not always present but can include abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.
http://purl.obolibrary.org/obo/MONDO_1060202	toxic thyroid adenoma	http://purl.obolibrary.org/obo/MONDO_1060200	primary hyperthyroidism		A condition in which a single benign adenoma on the thyroid gland  autonomously secretes excessive thyroid hormone, leading to primary hyperthyroidism.
http://purl.obolibrary.org/obo/MONDO_1060203	hypothalamic hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_1060201	secondary hyperthyroidism		A form of secondary hyperthyroidism caused by pathology in the hypothalamus leading to excessive stimulation of the pituitary gland and subsequent overproduction of TSH, resulting in elevated thyroid hormone levels.
http://purl.obolibrary.org/obo/MONDO_1060205	dysmenorrhea	http://purl.obolibrary.org/obo/MONDO_1060204	menstrual disorder		A menstrual disorder characterized by pain during the menstrual cycle.
http://purl.obolibrary.org/obo/MONDO_1060206	primary dysmenorrhea	http://purl.obolibrary.org/obo/MONDO_1060205	dysmenorrhea		A form of dysmenorrhea characterized by recurrent menstrual pain without any identifiable underlying pelvic pathology, representing a diagnosis of exclusion. Symptoms typically emerge within two years of menarche.
http://purl.obolibrary.org/obo/MONDO_1060207	secondary dysmenorrhea	http://purl.obolibrary.org/obo/MONDO_1060205	dysmenorrhea		A form of dysmenorrhea associated with suspected or clinically identifiable pelvic pathology, such as endometriosis, uterine fibroids, or adenomyosis.
http://purl.obolibrary.org/obo/MONDO_1060208	primary amenorrhea	http://purl.obolibrary.org/obo/MONDO_0001836	amenorrhea		A form of amenorrhea defined by the absence of menstruation by the age of 15 years, or by 3 years after the onset of breast development (thelarche).
http://purl.obolibrary.org/obo/MONDO_1060209	secondary amenorrhea	http://purl.obolibrary.org/obo/MONDO_0001836	amenorrhea		A form of amenorrhea characterized by the absence of menses for 3 or more months in a woman with previously regular menstrual cycles, or 6 or more months in any woman who has had at least one previous spontaneous menstruation.
http://purl.obolibrary.org/obo/MONDO_1060210	functional hypothalamic amenorrhea	http://purl.obolibrary.org/obo/MONDO_1060209	secondary amenorrhea		A form of secondary amenorrhea caused by suppression of the hypothalamic-pituitary-ovarian axis without identifiable organic pathology, typically associated with energy deficiency, excessive exercise, psychological stress, or low body weight.
http://purl.obolibrary.org/obo/MONDO_7770003	cystic fibrosis-related diabetes	http://purl.obolibrary.org/obo/MONDO_0005015	diabetes mellitus		A form of diabetes mellitus unique to individuals with cystic fibrosis (CF), arising primarily from progressive fibrotic destruction of the pancreas leading to insulin deficiency, with additional contributions from insulin resistance. CFRD affects approximately 20% of adolescents and 40-50% of adults with CF. It shares features with both type 1 and type 2 diabetes but is a distinct clinical entity with its own diagnostic criteria and management guidelines.
http://purl.obolibrary.org/obo/MONDO_7770005	cystic fibrosis-related liver disease	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		A liver disorder that arises as a consequence of cystic fibrosis. Cystic fibrosis-related liver disease encompasses a spectrum of hepatobiliary abnormalities caused by CFTR dysfunction in cholangiocytes, including focal biliary cirrhosis, multilobular biliary cirrhosis, hepatic steatosis, and cholangiopathy. It is a significant cause of non-pulmonary morbidity and mortality in CF, affecting approximately 5-10% of CF patients.
http://purl.obolibrary.org/obo/HP_3000079	Abnormal mandibular symphysis morphology	http://purl.obolibrary.org/obo/HP_0031816	Abnormal oral morphology		A structural abnormality of a mandibular symphysis.
http://purl.obolibrary.org/obo/HP_3000002	Abnormal inner ear epithelium morphology	http://purl.obolibrary.org/obo/HP_0011390	Abnormal inner ear morphology		Any structural anomaly of an inner ear epithelium.
http://purl.obolibrary.org/obo/FOODON_03000003	brown shrimp	http://purl.obolibrary.org/obo/FOODON_03411081	penaeid shrimp family		Farfantepenaeus aztecus is a species of marine penaeid shrimps found around the east coast of the USA and Mexico
http://purl.obolibrary.org/obo/FOODON_03000005	Indian prawn	http://purl.obolibrary.org/obo/FOODON_03411081	penaeid shrimp family		The Indian prawn (Fenneropenaeus indicus, formerly Penaeus indicus), is one of the major commercial prawn species of the world. It is found in the Indo-West Pacific from eastern and south-eastern Africa, through India, Malaysia and Indonesia to southern China and northern Australia
http://purl.obolibrary.org/obo/ENVO_01001000	environmental system determined by an organism	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		An environmental system which is determined by a living organism.
http://purl.obolibrary.org/obo/ENVO_01001135	desert planet	http://purl.obolibrary.org/obo/ENVO_01000958	terrestrial planet		A terrestrial planet which has a surface dominated by hot deserts.
http://purl.obolibrary.org/obo/MFOMD_0000001	mental disease	http://purl.obolibrary.org/obo/BFO_0000016	disposition		A disease which is a disposition to undergo pathological mental processes.
http://purl.obolibrary.org/obo/MFOMD_0000004	mental disorder	http://purl.obolibrary.org/obo/MFOMD_0000025	mental disease course		Clinically significant behavioural and/or cognitive pathology.
http://purl.obolibrary.org/obo/MFOMD_0000013	depressed mood episode	http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process		A depressed mood episode is a pathological mental process characterised by persistent feelings of sadness, anxiety, guilt, anger, isolation or hopelessness and other negative valence emotions, disturbances in sleep and appetite, fatigue, loss of interest in usually enjoyable activities and morbid or suicidal ideation.
http://purl.obolibrary.org/obo/MFOMD_0000025	mental disease course	http://purl.obolibrary.org/obo/BFO_0000015	process		A disease course of a mental disease.
http://purl.obolibrary.org/obo/MFOMD_0000101	delusion	http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process		
Erroneous beliefs that usually involve a misinterpretation of perceptions or experiences. (their content may include a variety of themes (e.g., persecutory, referential, somatic, religious, or grandiose).


DSM-IV-TR (american Psychiatric Association)
http://purl.obolibrary.org/obo/MFOMD_0000105	enuresis	http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process		
The habitual voiding of urine during the day or night into one's clothes, bed, or floor. The behaviour is generally involuntary, but in rare situations it may be intentional.


"Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue.

http://purl.obolibrary.org/obo/MFOMD_0000107	compulsion	http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process		
The need to perform acts or to dwell on thoughts to reduce anxiety.

"Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue.

http://purl.obolibrary.org/obo/MFOMD_0000109	obsession	http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process		
An intrusive and repetitive thought or image that produce anxiety.


"Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue.
http://purl.obolibrary.org/obo/MFOMD_0000119	dissociation	http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process		
A disruption in the usually integrated functions of consciousness, memory, identity, or perception of the environment. 
The disturbance may be sudden or gradual, transient or chronic.


DSM-IV-TR (american Psychiatric Association)
http://purl.obolibrary.org/obo/MFOMD_0000122	phobia	http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process		
A persistent, irrational fear of a specific object, activity, or situation (the phobic stimulus) that results in a compelling desire to avoid it. 


DSM-IV-TR (american Psychiatric Association)
http://purl.obolibrary.org/obo/MFOMD_0000143	major depressive episode	http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process		The essential feature is a period of at least 2 weeks during which there is either depressed mood or the loss of interest or pleasure in nearly all activities. In children and adolescents, the mood may be irritable rather than sad.

DSM-IV-TR (american Psychiatric Association)
http://purl.obolibrary.org/obo/MONDO_0021309	malignant neoplasm of endocervix	http://purl.obolibrary.org/obo/MONDO_0002974	cervical cancer		A cancer that involves the endocervix.
http://purl.obolibrary.org/obo/MONDO_0021323	malignant neoplasm of chest wall	http://purl.obolibrary.org/obo/MONDO_0021388	neoplasm of chest wall		A cancer that involves the chest wall.
http://purl.obolibrary.org/obo/MONDO_0021333	carcinoma of lip	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		A carcinoma that involves the lip.
http://purl.obolibrary.org/obo/MONDO_0021357	tumor of salivary gland	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the saliva-secreting gland.
http://purl.obolibrary.org/obo/MONDO_0021358	neoplasm of hypopharynx	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		A neoplasm (disease) that involves the hypopharynx.
http://purl.obolibrary.org/obo/MONDO_0021364	neoplasm of oropharynx	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		A neoplasm (disease) that involves the oropharynx.
http://purl.obolibrary.org/obo/MONDO_0021380	neoplasm of myocardium	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		A neoplasm (disease) that involves the myocardium.
http://purl.obolibrary.org/obo/MONDO_0021388	neoplasm of chest wall	http://purl.obolibrary.org/obo/MONDO_0021350	neoplasm of thorax		A neoplasm (disease) that involves the chest wall.
http://purl.obolibrary.org/obo/MONDO_0021452	benign neoplasm of cornea	http://purl.obolibrary.org/obo/MONDO_0021238	cornea neoplasm		A benign neoplasm that involves the cornea.
http://purl.obolibrary.org/obo/MONDO_0021462	benign neoplasm of rectum	http://purl.obolibrary.org/obo/MONDO_0021444	benign neoplasm of large intestine		A benign neoplasm that involves the rectum.
http://purl.obolibrary.org/obo/MONDO_0021472	benign neoplasm of scrotum	http://purl.obolibrary.org/obo/MONDO_0003319	scrotum neoplasm		A benign neoplasm that involves the scrotum.
http://purl.obolibrary.org/obo/MONDO_0021473	benign neoplasm of epididymis	http://purl.obolibrary.org/obo/MONDO_0003283	epididymal neoplasm		A benign neoplasm that involves the epididymis.
http://purl.obolibrary.org/obo/MONDO_0021477	benign neoplasm of sphenoidal sinus	http://purl.obolibrary.org/obo/MONDO_0004047	sphenoidal sinus neoplasm		A non-metastasizing neoplasm that arises from the sphenoid sinus.
http://purl.obolibrary.org/obo/MONDO_0021484	benign neoplasm of maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0006850	maxillary sinus neoplasm		A benign neoplasm that involves the maxillary sinus.
http://purl.obolibrary.org/obo/MONDO_0021499	benign neoplasm of cerebellum	http://purl.obolibrary.org/obo/MONDO_0021451	benign neoplasm of brain		A benign neoplasm that involves the cerebellum.
http://purl.obolibrary.org/obo/MONDO_0021507	benign neoplasm of brain stem	http://purl.obolibrary.org/obo/MONDO_0021228	brainstem neoplasm		A benign neoplasm that involves the brainstem.
http://purl.obolibrary.org/obo/MONDO_0021511	benign neoplasm of adrenal gland	http://purl.obolibrary.org/obo/MONDO_0021227	adrenal gland neoplasm		A benign neoplasm that involves the adrenal gland.
http://purl.obolibrary.org/obo/MONDO_0021515	benign neoplasm of ethmoidal sinus	http://purl.obolibrary.org/obo/MONDO_0001764	ethmoidal sinus neoplasm		A benign neoplasm that involves the ethmoid sinus.
http://purl.obolibrary.org/obo/MONDO_0021583	melanocytic skin neoplasm	http://purl.obolibrary.org/obo/MONDO_0021143	melanocytic neoplasm		A melanocytic neoplasm that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0021652	diffuse type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0021663	sarcomatoid squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006406	sarcomatoid carcinoma		A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.
http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.
http://purl.obolibrary.org/obo/MONDO_0021311	malignant tumor of parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		A cancer that involves the parathyroid gland.
http://purl.obolibrary.org/obo/MONDO_0021273	leiomyoma of ciliary body	http://purl.obolibrary.org/obo/MONDO_0021486	benign neoplasm of ciliary body		A leiomyoma that involves the ciliary body.
http://purl.obolibrary.org/obo/MONDO_0021275	papilloma of eyelid	http://purl.obolibrary.org/obo/MONDO_0021605	benign eyelid neoplasm		A papilloma that involves the eyelid.
http://purl.obolibrary.org/obo/MONDO_0021276	papilloma of buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0021524	benign neoplasm of buccal mucosa		A papilloma that involves the buccal mucosa.
http://purl.obolibrary.org/obo/MONDO_0021279	mucoepidermoid carcinoma of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0006286	major salivary gland mucoepidermoid carcinoma		A mucoepidermoid carcinoma that involves the submandibular gland.
http://purl.obolibrary.org/obo/MONDO_0021280	mucoepidermoid carcinoma of parotid gland	http://purl.obolibrary.org/obo/MONDO_0006286	major salivary gland mucoepidermoid carcinoma		A mucoepidermoid carcinoma that involves the parotid gland.
http://purl.obolibrary.org/obo/MONDO_0021281	cavernous hemangioma of retina	http://purl.obolibrary.org/obo/MONDO_0021541	hemangioma of retina		A cavernous hemangioma that involves the retina.
http://purl.obolibrary.org/obo/MONDO_0021282	malignant teratoma of testis	http://purl.obolibrary.org/obo/MONDO_0003514	malignant teratoma		A malignant teratoma that involves the testis.
http://purl.obolibrary.org/obo/MONDO_0021283	malignant teratoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0006298	mediastinal malignant germ cell tumor		A malignant teratoma that involves the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0021284	carcinoma in situ of ureter	http://purl.obolibrary.org/obo/MONDO_0006481	ureter carcinoma		A in situ carcinoma that involves the ureter.
http://purl.obolibrary.org/obo/MONDO_0021285	carcinoma in situ of urethra	http://purl.obolibrary.org/obo/MONDO_0021327	carcinoma of urethra		A in situ carcinoma that involves the urethra.
http://purl.obolibrary.org/obo/MONDO_0021287	carcinoma in situ of epiglottis	http://purl.obolibrary.org/obo/MONDO_0021298	carcinoma in situ of oropharynx		A in situ carcinoma that involves the epiglottis.
http://purl.obolibrary.org/obo/MONDO_0021288	carcinoma in situ of hypopharynx	http://purl.obolibrary.org/obo/MONDO_0005216	hypopharyngeal carcinoma		A in situ carcinoma that involves the hypopharynx.
http://purl.obolibrary.org/obo/MONDO_0021289	carcinoma in situ of cecum	http://purl.obolibrary.org/obo/MONDO_0006029	cecum carcinoma		A in situ carcinoma that involves the caecum.
http://purl.obolibrary.org/obo/MONDO_0021290	carcinoma in situ of appendix	http://purl.obolibrary.org/obo/MONDO_0021289	carcinoma in situ of cecum		A in situ carcinoma that involves the vermiform appendix.
http://purl.obolibrary.org/obo/MONDO_0021291	carcinoma in situ of fundus of stomach	http://purl.obolibrary.org/obo/MONDO_0004716	stomach carcinoma in situ		A in situ carcinoma that involves the fundus of stomach.
http://purl.obolibrary.org/obo/MONDO_0021292	carcinoma in situ of gastric body	http://purl.obolibrary.org/obo/MONDO_0004716	stomach carcinoma in situ		A in situ carcinoma that involves the body of stomach.
http://purl.obolibrary.org/obo/MONDO_0021294	carcinoma in situ of gastric cardia	http://purl.obolibrary.org/obo/MONDO_0004716	stomach carcinoma in situ		A in situ carcinoma that involves the cardia of stomach.
http://purl.obolibrary.org/obo/MONDO_0021296	carcinoma in situ of renal pelvis	http://purl.obolibrary.org/obo/MONDO_0005519	renal pelvis carcinoma		A in situ carcinoma that involves the renal pelvis.
http://purl.obolibrary.org/obo/MONDO_0021297	carcinoma in situ of nasopharynx	http://purl.obolibrary.org/obo/MONDO_0015459	nasopharyngeal carcinoma		A in situ carcinoma that involves the nasopharynx.
http://purl.obolibrary.org/obo/MONDO_0021298	carcinoma in situ of oropharynx	http://purl.obolibrary.org/obo/MONDO_0044926	oropharyngeal carcinoma		A in situ carcinoma that involves the oropharynx.
http://purl.obolibrary.org/obo/MONDO_0021299	carcinoma in situ of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0003090	extrahepatic bile duct carcinoma		A in situ carcinoma that involves the extrahepatic bile duct.
http://purl.obolibrary.org/obo/MONDO_0021300	adenoid cystic carcinoma of oropharynx	http://purl.obolibrary.org/obo/MONDO_0044926	oropharyngeal carcinoma		A adenoid cystic carcinoma that involves the oropharynx.
http://purl.obolibrary.org/obo/MONDO_0021301	adenoma of nipple	http://purl.obolibrary.org/obo/MONDO_0002482	nipple neoplasm		A adenoma that involves the nipple.
http://purl.obolibrary.org/obo/MONDO_0021316	malignant tumor of minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0021370	neoplasm of minor salivary gland		A cancer that involves the minor salivary gland.
http://purl.obolibrary.org/obo/MONDO_0021320	malignant tumor of floor of mouth	http://purl.obolibrary.org/obo/MONDO_0021383	neoplasm of floor of mouth		A cancer that involves the mouth floor.
http://purl.obolibrary.org/obo/MONDO_0021324	malignant neoplasm of abdominal esophagus	http://purl.obolibrary.org/obo/MONDO_0007576	esophageal cancer		A cancer that involves the abdominal part of esophagus.
http://purl.obolibrary.org/obo/MONDO_0021325	malignant neoplasm of thoracic esophagus	http://purl.obolibrary.org/obo/MONDO_0007576	esophageal cancer		A cancer that involves the thoracic part of esophagus.
http://purl.obolibrary.org/obo/MONDO_0021326	malignant neoplasm of cervical esophagus	http://purl.obolibrary.org/obo/MONDO_0007576	esophageal cancer		A cancer that involves the cervical part of esophagus.
http://purl.obolibrary.org/obo/MONDO_0021329	carcinoma of soft palate	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0021339	carcinoma of hard palate	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		A carcinoma that involves the hard palate.
http://purl.obolibrary.org/obo/MONDO_0021351	neoplasm of neck	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		A neoplasm (disease) that involves the neck.
http://purl.obolibrary.org/obo/MONDO_0021370	neoplasm of minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0044992	mouth mucosa disorder		A neoplasm (disease) that involves the minor salivary gland.
http://purl.obolibrary.org/obo/MONDO_0021383	neoplasm of floor of mouth	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the mouth floor.
http://purl.obolibrary.org/obo/MONDO_0021389	neoplasm of aortic body	http://purl.obolibrary.org/obo/MONDO_0021080	blood vessel neoplasm		A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.
http://purl.obolibrary.org/obo/MONDO_0021390	polyp of ureter	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polyp that involves the ureter.
http://purl.obolibrary.org/obo/MONDO_0021394	polyp of vagina	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polyp that involves the vagina.
http://purl.obolibrary.org/obo/MONDO_0021402	polyp of external auditory canal	http://purl.obolibrary.org/obo/MONDO_0021235	external ear neoplasm		A polyp that involves the external acoustic meatus.
http://purl.obolibrary.org/obo/MONDO_0021404	polyp of sphenoidal sinus	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		A polyp that involves the sphenoidal sinus.
http://purl.obolibrary.org/obo/MONDO_0021408	polyp of frontal sinus	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polyp that involves the frontal sinus.
http://purl.obolibrary.org/obo/MONDO_0021412	polyp of maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		A polyp that involves the maxillary sinus.
http://purl.obolibrary.org/obo/MONDO_0021418	polyp of ethmoidal sinus	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polyp that involves the ethmoid sinus.
http://purl.obolibrary.org/obo/MONDO_0021420	polyp of vocal cord	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.
http://purl.obolibrary.org/obo/MONDO_0021424	hemangiopericytoma of skin	http://purl.obolibrary.org/obo/MONDO_0005094	hemangiopericytoma		A hemangiopericytoma that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0021427	squamous cell carcinoma of lip	http://purl.obolibrary.org/obo/MONDO_0021333	carcinoma of lip		A squamous cell carcinoma that involves the lip.
http://purl.obolibrary.org/obo/MONDO_0021429	squamous cell carcinoma of floor of mouth	http://purl.obolibrary.org/obo/MONDO_0004958	oral cavity squamous cell carcinoma		A squamous cell carcinoma that involves the mouth floor.
http://purl.obolibrary.org/obo/MONDO_0021431	squamous cell carcinoma of buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0004958	oral cavity squamous cell carcinoma		A squamous cell carcinoma that involves the buccal mucosa.
http://purl.obolibrary.org/obo/MONDO_0021437	lipoma of stomach	http://purl.obolibrary.org/obo/MONDO_0021449	benign neoplasm of stomach		A lipoma that involves the stomach.
http://purl.obolibrary.org/obo/MONDO_0021441	benign neoplasm of exocrine pancreas	http://purl.obolibrary.org/obo/MONDO_0021076	pancreatic exocrine neoplasm		A benign neoplasm that involves the exocrine pancreas.
http://purl.obolibrary.org/obo/MONDO_0021443	benign neoplasm of lymph node	http://purl.obolibrary.org/obo/MONDO_0000630	immune system organ benign neoplasm		A benign neoplasm that involves the lymph node.
http://purl.obolibrary.org/obo/MONDO_0021445	benign neoplasm of oral cavity	http://purl.obolibrary.org/obo/MONDO_0021245	oral cavity neoplasm		A benign neoplasm that involves the oral cavity.
http://purl.obolibrary.org/obo/MONDO_0021446	benign neoplasm of epiglottis	http://purl.obolibrary.org/obo/MONDO_0021461	benign neoplasm of hypopharynx		A benign neoplasm that involves the epiglottis.
http://purl.obolibrary.org/obo/MONDO_0021447	benign neoplasm of testis	http://purl.obolibrary.org/obo/MONDO_0021348	neoplasm of testis		A benign neoplasm that involves the testis.
http://purl.obolibrary.org/obo/MONDO_0021453	benign neoplasm of retina	http://purl.obolibrary.org/obo/MONDO_0021231	retina neoplasm		A benign neoplasm that involves the retina.
http://purl.obolibrary.org/obo/MONDO_0021455	benign neoplasm of neck	http://purl.obolibrary.org/obo/MONDO_0021351	neoplasm of neck		A benign neoplasm that involves the neck.
http://purl.obolibrary.org/obo/MONDO_0021456	benign neoplasm of sternum	http://purl.obolibrary.org/obo/MONDO_0021578	sternal neoplasm		A benign neoplasm that involves the sternum.
http://purl.obolibrary.org/obo/MONDO_0021458	benign neoplasm of penis	http://purl.obolibrary.org/obo/MONDO_0006895	penile neoplasm		A benign neoplasm that involves the penis.
http://purl.obolibrary.org/obo/MONDO_0021461	benign neoplasm of hypopharynx	http://purl.obolibrary.org/obo/MONDO_0021523	benign neoplasm of pharynx		A benign neoplasm that involves the hypopharynx.
http://purl.obolibrary.org/obo/MONDO_0021470	benign neoplasm of pancreas	http://purl.obolibrary.org/obo/MONDO_0021040	pancreatic neoplasm		A benign neoplasm that involves the pancreas.
http://purl.obolibrary.org/obo/MONDO_0021471	benign neoplasm of endometrium	http://purl.obolibrary.org/obo/MONDO_0021251	endometrium neoplasm		A benign neoplasm that involves the endometrium.
http://purl.obolibrary.org/obo/MONDO_0021476	benign neoplasm of tongue	http://purl.obolibrary.org/obo/MONDO_0021240	tongue neoplasm		A benign neoplasm that involves the tongue.
http://purl.obolibrary.org/obo/MONDO_0021478	benign neoplasm of nasopharynx	http://purl.obolibrary.org/obo/MONDO_0021523	benign neoplasm of pharynx		A benign neoplasm that involves the nasopharynx.
http://purl.obolibrary.org/obo/MONDO_0021479	benign neoplasm of oropharynx	http://purl.obolibrary.org/obo/MONDO_0021523	benign neoplasm of pharynx		A benign neoplasm that involves the oropharynx.
http://purl.obolibrary.org/obo/MONDO_0021480	benign neoplasm of soft palate	http://purl.obolibrary.org/obo/MONDO_0021445	benign neoplasm of oral cavity		A benign neoplasm that involves the soft palate.
http://purl.obolibrary.org/obo/MONDO_0021481	benign neoplasm of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0021244	submandibular gland neoplasm		A benign neoplasm that involves the submandibular gland.
http://purl.obolibrary.org/obo/MONDO_0021485	benign neoplasm of iris	http://purl.obolibrary.org/obo/MONDO_0021224	iris neoplasm		A benign neoplasm that involves the iris.
http://purl.obolibrary.org/obo/MONDO_0021486	benign neoplasm of ciliary body	http://purl.obolibrary.org/obo/MONDO_0021229	ciliary body neoplasm		A benign neoplasm that involves the ciliary body.
http://purl.obolibrary.org/obo/MONDO_0021487	benign neoplasm of choroid	http://purl.obolibrary.org/obo/MONDO_0021258	choroid neoplasm		A benign neoplasm that involves the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0021488	benign neoplasm of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0021222	lacrimal gland neoplasm		A benign neoplasm that involves the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0021491	benign neoplasm of gum	http://purl.obolibrary.org/obo/MONDO_0021086	gingival neoplasm		A benign neoplasm that involves the gingiva.
http://purl.obolibrary.org/obo/MONDO_0021492	benign neoplasm of major salivary gland	http://purl.obolibrary.org/obo/MONDO_0021460	benign neoplasm of salivary gland		A benign neoplasm that involves the major salivary gland.
http://purl.obolibrary.org/obo/MONDO_0021493	benign neoplasm of minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0021370	neoplasm of minor salivary gland		A benign neoplasm that involves the minor salivary gland.
http://purl.obolibrary.org/obo/MONDO_0021494	benign neoplasm of parotid gland	http://purl.obolibrary.org/obo/MONDO_0021243	parotid gland neoplasm		A benign neoplasm that involves the parotid gland.
http://purl.obolibrary.org/obo/MONDO_0021495	benign neoplasm of sublingual gland	http://purl.obolibrary.org/obo/MONDO_0021242	sublingual gland neoplasm		A benign neoplasm that involves the sublingual gland.
http://purl.obolibrary.org/obo/MONDO_0021505	benign neoplasm of endocardium	http://purl.obolibrary.org/obo/MONDO_0021450	benign neoplasm of heart		A benign neoplasm that involves the endocardium.
http://purl.obolibrary.org/obo/MONDO_0021509	benign neoplasm of myocardium	http://purl.obolibrary.org/obo/MONDO_0021380	neoplasm of myocardium		A benign neoplasm that involves the myocardium.
http://purl.obolibrary.org/obo/MONDO_0021523	benign neoplasm of pharynx	http://purl.obolibrary.org/obo/MONDO_0021246	pharynx neoplasm		A benign neoplasm that involves the pharynx.
http://purl.obolibrary.org/obo/MONDO_0021524	benign neoplasm of buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0021241	buccal mucosa neoplasm		A benign neoplasm that involves the buccal mucosa.
http://purl.obolibrary.org/obo/MONDO_0021582	lentigo	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.
http://purl.obolibrary.org/obo/MONDO_0021605	benign eyelid neoplasm	http://purl.obolibrary.org/obo/MONDO_0021440	benign neoplasm of skin		A non-metastasizing neoplasm that arises from the upper or lower eyelid.
http://purl.obolibrary.org/obo/MONDO_0021723	vaginismus	http://purl.obolibrary.org/obo/MONDO_0001433	vaginal disorder		Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.
http://purl.obolibrary.org/obo/MONDO_0021726	abdominal cystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0009761	cystic hygroma		Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..
http://purl.obolibrary.org/obo/MONDO_0021727	aberrant subclavian artery	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..
http://purl.obolibrary.org/obo/MONDO_0021745	psychosocial short stature	http://purl.obolibrary.org/obo/MONDO_0006909	pituitary dwarfism		A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.
http://purl.obolibrary.org/obo/MONDO_0021747	Acanthamoeba infectious disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infectious disease involving the Acanthamoeba.
http://purl.obolibrary.org/obo/MONDO_0021752	Achard-Thiers syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women
http://purl.obolibrary.org/obo/MONDO_0021758	acquired agranulocytosis	http://purl.obolibrary.org/obo/MONDO_0001609	agranulocytosis		Agranulocytosis that is autoimmune in origin.
http://purl.obolibrary.org/obo/MONDO_0021759	acquired fructose intolerance	http://purl.obolibrary.org/obo/MONDO_0017689	disorder of fructose metabolism		Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.
http://purl.obolibrary.org/obo/MONDO_0021761	acral dysostosis dyserythropoiesis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet.
http://purl.obolibrary.org/obo/MONDO_0021762	acrocoxomesomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.
http://purl.obolibrary.org/obo/MONDO_0021764	acrofacial dysostosis Preis type	http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis		Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0021808	acute cholinergic dysautonomia	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.
http://purl.obolibrary.org/obo/MONDO_0021809	primary dysautonomia	http://purl.obolibrary.org/obo/MONDO_0044872	dysautonomia		Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.
http://purl.obolibrary.org/obo/MONDO_0021811	acute mountain sickness	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.
http://purl.obolibrary.org/obo/MONDO_0021812	adnexal spiradenoma/cylindroma of a sweat gland	http://purl.obolibrary.org/obo/MONDO_0021489	benign neoplasm of sweat gland		A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.
http://purl.obolibrary.org/obo/MONDO_0021824	adult progressive spinal muscular atrophy, Aran Duchenne type	http://purl.obolibrary.org/obo/MONDO_0018687	progressive muscular atrophy		A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.
http://purl.obolibrary.org/obo/MONDO_0021826	aerobic Actinomyces infection	http://purl.obolibrary.org/obo/MONDO_0005631	actinomycosis		Infection with the less common aerobic antinomyces bacteria.
http://purl.obolibrary.org/obo/MONDO_0021834	Akaba Hayasaka syndrome	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.
http://purl.obolibrary.org/obo/MONDO_0021836	Aksu von Stockhausen syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0021838	Al Gazali Khidr Prem Chandran syndrome	http://purl.obolibrary.org/obo/MONDO_0007315	cherubism		A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0021845	Aloi Tomasini Isaia syndrome	http://purl.obolibrary.org/obo/MONDO_0008797	anodontia		A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0021851	alopecia universalis onychodystrophy vitiligo	http://purl.obolibrary.org/obo/MONDO_0008661	vitiligo		A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.
http://purl.obolibrary.org/obo/MONDO_0021856	Alsing syndrome	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.
http://purl.obolibrary.org/obo/MONDO_0021879	small cell variant anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020325	anaplastic large cell lymphoma		A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.
http://purl.obolibrary.org/obo/MONDO_0021902	aortopulmonary window	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.
http://purl.obolibrary.org/obo/MONDO_0021907	aplasia cutis autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0007145	aplasia cutis congenita		Aplasia cutis with autosomal recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_0021908	aplasia cutis congenita dominant	http://purl.obolibrary.org/obo/MONDO_0007145	aplasia cutis congenita		Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.
http://purl.obolibrary.org/obo/MONDO_0021913	aquagenic pruritus	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.
http://purl.obolibrary.org/obo/MONDO_0021915	arakawa syndrome 2	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.
http://purl.obolibrary.org/obo/MONDO_0021923	Arroyo Garcia Cimadevilla syndrome	http://purl.obolibrary.org/obo/MONDO_0009047	cryptorchidism		A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0021935	aspergillus niger infection	http://purl.obolibrary.org/obo/MONDO_0005657	aspergillosis		A infectious disease involving the Aspergillus niger.
http://purl.obolibrary.org/obo/MONDO_0021944	auditory neuropathy	http://purl.obolibrary.org/obo/MONDO_0037940	inherited auditory system disease		A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.
http://purl.obolibrary.org/obo/MONDO_0021950	autoimmune oophoritis	http://purl.obolibrary.org/obo/MONDO_0006877	oophoritis		Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.
http://purl.obolibrary.org/obo/MONDO_0021952	progestogen hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0000605	hypersensitivity reaction disease		Progestogen hypersensitivity (PH), also referred to as autoimmune progesterone dermatitis (APD), is a rare immediate or delayed hypersensitivity reaction to endogenous progesterone and/or synthetic progestins characterized by diverse cutaneous manifestations, bronchospasm, and/or anaphylaxis.
http://purl.obolibrary.org/obo/MONDO_0021966	baker Vinters syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0021977	basaloid follicular hamartoma	http://purl.obolibrary.org/obo/MONDO_0006499	hamartoma		A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.
http://purl.obolibrary.org/obo/MONDO_0021979	Basaran Yilmaz syndrome	http://purl.obolibrary.org/obo/MONDO_0003037	hypotrichosis		A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.
http://purl.obolibrary.org/obo/MONDO_0022011	bobble-head doll syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.
http://purl.obolibrary.org/obo/MONDO_0022013	Boerhaave syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.
http://purl.obolibrary.org/obo/MONDO_0022020	Boudhina Yedes Khiari syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions
http://purl.obolibrary.org/obo/MONDO_0022022	bowenoid papulosis	http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor		Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.
http://purl.obolibrary.org/obo/MONDO_0022057	calcifying epithelial odontogenic tumor	http://purl.obolibrary.org/obo/MONDO_0021192	odontogenic neoplasm		A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.
http://purl.obolibrary.org/obo/MONDO_0022070	Cantu Sanchez-Corona Hernandez syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies
http://purl.obolibrary.org/obo/MONDO_0022071	carbon baby syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.
http://purl.obolibrary.org/obo/MONDO_0022098	catamenial pneumothorax	http://purl.obolibrary.org/obo/MONDO_0002076	pneumothorax		Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.
http://purl.obolibrary.org/obo/MONDO_0022140	Charles bonnet syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.
http://purl.obolibrary.org/obo/MONDO_0022171	chromhidrosis	http://purl.obolibrary.org/obo/MONDO_0024467	apocrine sweat gland disorder		A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.
http://purl.obolibrary.org/obo/MONDO_0022174	chromosome 12p deletion	http://purl.obolibrary.org/obo/MONDO_0017277	partial deletion of chromosome 12		A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.
http://purl.obolibrary.org/obo/MONDO_0022236	colpocephaly	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.
http://purl.obolibrary.org/obo/MONDO_0022308	corticobasal degeneration disorder	http://purl.obolibrary.org/obo/MONDO_0024238	cerebral degeneration		A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.
http://purl.obolibrary.org/obo/MONDO_0022349	congenital absence of septum pellucidum	http://purl.obolibrary.org/obo/MONDO_0008428	septooptic dysplasia		The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.
http://purl.obolibrary.org/obo/MONDO_0022380	acute lymphoblastic leukemia congenital sporadic aniridia	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.
http://purl.obolibrary.org/obo/MONDO_0022398	aglossia and situs inversus	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.
http://purl.obolibrary.org/obo/MONDO_0022401	agyria pachygyria polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect.
http://purl.obolibrary.org/obo/MONDO_0022402	agyria-pachygyria type 1	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.
http://purl.obolibrary.org/obo/MONDO_0022403	Ahumada Del Castillo syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.
http://purl.obolibrary.org/obo/MONDO_0022428	aluminosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.
http://purl.obolibrary.org/obo/MONDO_0022444	amyloidosis bronchopulmonary	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.
http://purl.obolibrary.org/obo/MONDO_0022453	angiomyomatous hamartoma	http://purl.obolibrary.org/obo/MONDO_0006499	hamartoma		An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.
http://purl.obolibrary.org/obo/MONDO_0022454	angiosarcoma of the scalp	http://purl.obolibrary.org/obo/MONDO_0016982	angiosarcoma		Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.
http://purl.obolibrary.org/obo/MONDO_0022458	annular constricting bands	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.
http://purl.obolibrary.org/obo/MONDO_0022461	anophthalmia cleft palate micrognathia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes.
http://purl.obolibrary.org/obo/MONDO_0022462	anophthalmia esophageal atresia cryptorchidism	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0022465	anotia facial palsy cardiac defect	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.
http://purl.obolibrary.org/obo/MONDO_0022468	antigen-peptide-transporter 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.
http://purl.obolibrary.org/obo/MONDO_0022470	aortic dissection lentiginosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis.
http://purl.obolibrary.org/obo/MONDO_0022496	arthrogryposis IUGR thoracic dystrophy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.
http://purl.obolibrary.org/obo/MONDO_0022500	arthrogryposis multiplex congenita CNS calcification	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.
http://purl.obolibrary.org/obo/MONDO_0022509	asternia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.
http://purl.obolibrary.org/obo/MONDO_0022513	atrophoderma of Pierini and Pasini	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.
http://purl.obolibrary.org/obo/MONDO_0022518	autoimmune inner ear disease	http://purl.obolibrary.org/obo/MONDO_0002467	inner ear disorder		A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.
http://purl.obolibrary.org/obo/MONDO_0022519	autoimmune myocarditis	http://purl.obolibrary.org/obo/MONDO_0030701	autoimmune cardiomyopathy		Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.
http://purl.obolibrary.org/obo/MONDO_0022551	Basedow's coma	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.
http://purl.obolibrary.org/obo/MONDO_0022559	benign angiitis of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0003346	central nervous system vasculitis		A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.
http://purl.obolibrary.org/obo/MONDO_0022560	benign metastasizing leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001572	leiomyoma		A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.
http://purl.obolibrary.org/obo/MONDO_0022578	childhood bladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0004986	urinary bladder carcinoma		A rare carcinoma of the bladder that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0022580	blepharo naso facial syndrome van Maldergem type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing.
http://purl.obolibrary.org/obo/MONDO_0022606	branchial arch disease	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		A disease that involves the pharyngeal system development.
http://purl.obolibrary.org/obo/MONDO_0022607	extraovarian Brenner tumor of the vagina	http://purl.obolibrary.org/obo/MONDO_0024235	Brenner tumor		A Brenner tumor that involves the vagina.
http://purl.obolibrary.org/obo/MONDO_0022642	childhood carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		A rare carcinoid tumor that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0022643	carcinoma of the vocal tract	http://purl.obolibrary.org/obo/MONDO_0002355	glottis carcinoma		A carcinoma that involves the laryngeal vocal fold.
http://purl.obolibrary.org/obo/MONDO_0022648	cardiomyopathy and deafness due to tRNA lysine gene mutation	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.
http://purl.obolibrary.org/obo/MONDO_0022666	cassavism	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to fruit of the Cassava plant (Manihot esculenta), contains linamarin, a cyanogenic glucoside. If a person eats improperly prepared products, cassavism (locally termed konzo or mantakassa) may develop, which features toxic ataxic neuropathy.
http://purl.obolibrary.org/obo/MONDO_0022672	autosomal dominant cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A syndromic cataract that has autosomal dominant inheritance.
http://purl.obolibrary.org/obo/MONDO_0022687	cerebellar degeneration	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.
http://purl.obolibrary.org/obo/MONDO_0022697	athetoid cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0006497	cerebral palsy		A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.
http://purl.obolibrary.org/obo/MONDO_0022714	chester porphyria	http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria		Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.
http://purl.obolibrary.org/obo/MONDO_0022737	choroideremia hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0010557	choroideremia		This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.
http://purl.obolibrary.org/obo/MONDO_0022754	chromosome 17p deletion	http://purl.obolibrary.org/obo/MONDO_0016879	partial deletion of chromosome 17		A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.
http://purl.obolibrary.org/obo/MONDO_0022756	chromosome 1q deletion	http://purl.obolibrary.org/obo/MONDO_0016866	partial deletion of chromosome 1		Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0022757	chromosome 20 trisomy	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.
http://purl.obolibrary.org/obo/MONDO_0022759	trisomy 22	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).
http://purl.obolibrary.org/obo/MONDO_0022792	coccygodynia	http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder		A rare pain disorder characterized by pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury.
http://purl.obolibrary.org/obo/MONDO_0022799	cold urticaria	http://purl.obolibrary.org/obo/MONDO_0005492	urticaria		Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.
http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.
http://purl.obolibrary.org/obo/MONDO_0022812	complement receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0003832	complement deficiency		A disorder with basis in disruption of a complement receptor.
http://purl.obolibrary.org/obo/MONDO_0022851	Dennis-Fairhurst-Moore syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0022859	cor biloculare	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A congenital anatomic anomaly in which the heart has only two chambers.
http://purl.obolibrary.org/obo/MONDO_0022901	Crohn disease of the esophagus	http://purl.obolibrary.org/obo/MONDO_0005011	Crohn disease		A Crohn disease involving a pathogenic inflammatory response in the esophagus.
http://purl.obolibrary.org/obo/MONDO_0022919	cytokine receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A disease that has its basis in the disruption of cytokine receptor activity.
http://purl.obolibrary.org/obo/MONDO_0022932	Davenport-Donlan syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0022963	desmoplastic infantile astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0022965	desmoplastic infantile ganglioglioma	http://purl.obolibrary.org/obo/MONDO_0016729	mixed neuronal-glial tumor		A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)
http://purl.obolibrary.org/obo/MONDO_0022968	dextrocardia with situs inversus	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.
http://purl.obolibrary.org/obo/MONDO_0022972	diabetic mastopathy	http://purl.obolibrary.org/obo/MONDO_0000620	breast benign neoplasm		Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).
http://purl.obolibrary.org/obo/MONDO_0022986	diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.
http://purl.obolibrary.org/obo/MONDO_0022991	diploid-triploid mosaicism	http://purl.obolibrary.org/obo/MONDO_0019934	polyploidy		Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.
http://purl.obolibrary.org/obo/MONDO_0022993	dipsogenic diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0004782	diabetes insipidus		Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.
http://purl.obolibrary.org/obo/MONDO_0023007	Drachtman Weinblatt Sitarz syndrome	http://purl.obolibrary.org/obo/MONDO_0003225	bone marrow disorder		A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.
http://purl.obolibrary.org/obo/MONDO_0023035	Eagle syndrome	http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder		Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.
http://purl.obolibrary.org/obo/MONDO_0023073	eosinophilic cryptitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.
http://purl.obolibrary.org/obo/MONDO_0023076	eosinophilic pustular folliculitis	http://purl.obolibrary.org/obo/MONDO_0006617	vesiculobullous skin disease		Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.
http://purl.obolibrary.org/obo/MONDO_0023089	erythroplakia	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0023094	exogenous ochronosis	http://purl.obolibrary.org/obo/MONDO_0001910	ochronosis disorder		Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.
http://purl.obolibrary.org/obo/MONDO_0023113	familial colorectal cancer	http://purl.obolibrary.org/obo/MONDO_0005575	colorectal cancer		Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.
http://purl.obolibrary.org/obo/MONDO_0023122	familial prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.
http://purl.obolibrary.org/obo/MONDO_0023124	Dursun syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndromic disease caused by mutation in the G6PC3 gene, characterized by familial pulmonary arterial hypertension, leukopenia, and atrial septal defect.
http://purl.obolibrary.org/obo/MONDO_0023134	febrile ulceronecrotic Mucha-Habermann disease	http://purl.obolibrary.org/obo/MONDO_0024250	acute lichenoid pityriasis		Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.
http://purl.obolibrary.org/obo/MONDO_0023147	fetal parainfluenza virus type 3 syndrome	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		A syndrome caused by HPIV-3.
http://purl.obolibrary.org/obo/MONDO_0023152	fibrocartilaginous embolism	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.
http://purl.obolibrary.org/obo/MONDO_0023158	Fitz-Hugh-Curtis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.
http://purl.obolibrary.org/obo/MONDO_0023171	foix chavany Marie syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.
http://purl.obolibrary.org/obo/MONDO_0023188	Freiberg disease	http://purl.obolibrary.org/obo/MONDO_0018381	osteochondrosis		Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.
http://purl.obolibrary.org/obo/MONDO_0023206	functional pancreatic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021120	functioning endocrine neoplasm		A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.
http://purl.obolibrary.org/obo/MONDO_0023224	inherited reflex epilepsy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0023227	gestational diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0004782	diabetes insipidus		A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.
http://purl.obolibrary.org/obo/MONDO_0023232	giant cell myocarditis	http://purl.obolibrary.org/obo/MONDO_0002815	acute myocarditis		An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.
http://purl.obolibrary.org/obo/MONDO_0023258	glycogen storage disease type 1 due to SLC37A4 mutation	http://purl.obolibrary.org/obo/MONDO_0002413	glycogen storage disease I		Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.
http://purl.obolibrary.org/obo/MONDO_0023275	Graham-Boyle-Troxell syndrome	http://purl.obolibrary.org/obo/MONDO_0008903	lung cancer		Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.
http://purl.obolibrary.org/obo/MONDO_0023282	granulomatous hypophysitis	http://purl.obolibrary.org/obo/MONDO_0021156	hypophysitis		Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.
http://purl.obolibrary.org/obo/MONDO_0023283	ovarian granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0021657	ovarian sex cord-stromal tumor		A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0023297	guttate psoriasis	http://purl.obolibrary.org/obo/MONDO_0005083	psoriasis		A form of psoriasis characterized by a sudden onset of small, red, and scaly teardrop-shaped spots that appear on the arms, legs, and middle of the body, usually triggered by an infection.
http://purl.obolibrary.org/obo/MONDO_0023305	heavy metal poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.
http://purl.obolibrary.org/obo/MONDO_0023368	Ho-Kaufman-McAlister syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet
http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton	http://purl.obolibrary.org/obo/MONDO_0024654	skull disorder		A disease that involves the facial skeleton.
http://purl.obolibrary.org/obo/MONDO_0023419	hyperprolinemia	http://purl.obolibrary.org/obo/MONDO_0017355	inborn disorder of proline metabolism		Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.
http://purl.obolibrary.org/obo/MONDO_0023483	infectious myositis	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.
http://purl.obolibrary.org/obo/MONDO_0023528	KSHV inflammatory cytokine syndrome	http://purl.obolibrary.org/obo/MONDO_0021670	post-infectious syndrome		A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0023597	laryngeal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0018955	recurrent respiratory papillomatosis		Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.
http://purl.obolibrary.org/obo/MONDO_0023601	non-classic congenital adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0018479	congenital adrenal hyperplasia		A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.
http://purl.obolibrary.org/obo/MONDO_0023619	lentigo maligna melanoma	http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma		A skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.
http://purl.obolibrary.org/obo/MONDO_0023628	levator syndrome	http://purl.obolibrary.org/obo/MONDO_0002519	anus disorder		Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.
http://purl.obolibrary.org/obo/MONDO_0023644	lip and oral cavity carcinoma	http://purl.obolibrary.org/obo/MONDO_0002038	head and neck carcinoma		A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0023646	lipodermatosclerosis	http://purl.obolibrary.org/obo/MONDO_0019562	localized scleroderma		Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.
http://purl.obolibrary.org/obo/MONDO_0023650	littoral cell angioma of the spleen	http://purl.obolibrary.org/obo/MONDO_0002343	splenic hemangioma		Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.
http://purl.obolibrary.org/obo/MONDO_0023691	maple syrup urine disease type 1A	http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease		A maple syrup urine disease caused by mutations in BCKDHA.
http://purl.obolibrary.org/obo/MONDO_0023692	maple syrup urine disease type 1B	http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease		A maple syrup urine disease caused by mutations in BCKDHB.
http://purl.obolibrary.org/obo/MONDO_0023693	maple syrup urine disease type 2	http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease		A maple syrup urine disease caused by mutations in DBT.
http://purl.obolibrary.org/obo/MONDO_0023696	Marinesco-Sjogren-like syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A disease with similar features to Marinesco-Sjogren syndrome.
http://purl.obolibrary.org/obo/MONDO_0023704	Martinez Monasterio Pinheiro syndrome	http://purl.obolibrary.org/obo/MONDO_0007339	blepharocheilodontic syndrome		A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0023757	meralgia paresthetica	http://purl.obolibrary.org/obo/MONDO_0003615	nerve compression syndrome		Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.
http://purl.obolibrary.org/obo/MONDO_0023833	multifocal choroiditis	http://purl.obolibrary.org/obo/MONDO_0001280	choroiditis		Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.
http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.
http://purl.obolibrary.org/obo/MONDO_0024240	eccrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005524	sweat gland carcinoma		An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0024249	pityriasis lichenoides	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).
http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0024265	Duane syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007473	Duane retraction syndrome		Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.
http://purl.obolibrary.org/obo/MONDO_0024238	cerebral degeneration	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A neurodegenerative disease that involves the telencephalon.
http://purl.obolibrary.org/obo/ECTO_0000259	exposure to glucocorticoid	http://purl.obolibrary.org/obo/ECTO_0000258	exposure to steroid hormone		An exposure to glucocorticoid.
http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.
http://purl.obolibrary.org/obo/MONDO_0024356	primary central sleep apnea syndrome	http://purl.obolibrary.org/obo/MONDO_0004731	central sleep apnea syndrome		A central sleep apnea syndrome considered to be idiopathic. Central sleep apnea is caused by improper signaling from the brainstem to the respiratory muscles and is triggered by either hypoventilation or hyperventilation. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating, and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.
http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder	http://purl.obolibrary.org/obo/MONDO_0003406	sleep-wake disorder		A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)
http://purl.obolibrary.org/obo/MONDO_0024377	circadian rhythm sleep disorder, delayed sleep phase type	http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder		A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.
http://purl.obolibrary.org/obo/MONDO_0024378	circadian rhythm sleep disorder, advanced sleep phase type	http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder		A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.
http://purl.obolibrary.org/obo/MONDO_0024379	circadian rhythm sleep disorder, irregular sleep wake type	http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder		A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.
http://purl.obolibrary.org/obo/MONDO_0024381	circadian rhythm sleep disorder, jet lag type	http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder		A circadian sleep disorder that results from traveling across time zones.
http://purl.obolibrary.org/obo/MONDO_0024382	circadian rhythm sleep disorder, shift work type	http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder		A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.
http://purl.obolibrary.org/obo/MONDO_0024388	Clostridium infectious disease	http://purl.obolibrary.org/obo/MONDO_0021679	gram-positive bacterial infections		Infections with bacteria of the genus clostridium.
http://purl.obolibrary.org/obo/MONDO_0024416	Neorickettsia infectious disease	http://purl.obolibrary.org/obo/MONDO_0006922	Anaplasmataceae infectious disease		A disease caused by infection with Neorickettsia.
http://purl.obolibrary.org/obo/MONDO_0024417	perceptual disorders	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.
http://purl.obolibrary.org/obo/MONDO_0024422	auditory perceptual disorders	http://purl.obolibrary.org/obo/MONDO_0024417	perceptual disorders		Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.
http://purl.obolibrary.org/obo/MONDO_0024429	Alice in Wonderland syndrome	http://purl.obolibrary.org/obo/MONDO_0021084	vision disorder		A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.
http://purl.obolibrary.org/obo/MONDO_0024430	allesthesia	http://purl.obolibrary.org/obo/MONDO_0024417	perceptual disorders		A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.
http://purl.obolibrary.org/obo/MONDO_0024454	sacral nerve plexus disorder	http://purl.obolibrary.org/obo/MONDO_0001829	lumbosacral plexus lesion		A disease that involves the sacral nerve plexus.
http://purl.obolibrary.org/obo/MONDO_0024455	autosomal dominant Robinow syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008389	autosomal dominant Robinow syndrome		Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.
http://purl.obolibrary.org/obo/MONDO_0024456	anterior segment dysgenesis 3	http://purl.obolibrary.org/obo/MONDO_0100235	FOXC1-related anterior segment dysgenesis		An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)
http://purl.obolibrary.org/obo/MONDO_0024461	angiomatosis	http://purl.obolibrary.org/obo/MONDO_0024286	benign blood vessel neoplasm		A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.
http://purl.obolibrary.org/obo/MONDO_0024472	boutonneuse fever	http://purl.obolibrary.org/obo/MONDO_0005677	Rickettsia conorii infectious disease		An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.
http://purl.obolibrary.org/obo/MONDO_0024473	Astrakhan spotted fever	http://purl.obolibrary.org/obo/MONDO_0005677	Rickettsia conorii infectious disease		An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.
http://purl.obolibrary.org/obo/MONDO_0024506	Adams-Oliver syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.
http://purl.obolibrary.org/obo/MONDO_0024522	amyloidosis, primary localized cutaneous, 1	http://purl.obolibrary.org/obo/MONDO_0007101	familial primary localized cutaneous amyloidosis		Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.
http://purl.obolibrary.org/obo/MONDO_0024526	Zimmermann-Laband syndrome 1	http://purl.obolibrary.org/obo/MONDO_0100485	KCNH1 associated disorder		Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.
http://purl.obolibrary.org/obo/MONDO_0024528	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0008003	autosomal dominant progressive external ophthalmoplegia		Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
http://purl.obolibrary.org/obo/MONDO_0024532	otofaciocervical syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008163	otofaciocervical syndrome		Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.
http://purl.obolibrary.org/obo/MONDO_0024534	Dowling-Degos disease 1	http://purl.obolibrary.org/obo/MONDO_0008371	Dowling-Degos disease		Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.
http://purl.obolibrary.org/obo/MONDO_0024536	glucocorticoid deficiency 1	http://purl.obolibrary.org/obo/MONDO_0008733	familial glucocorticoid deficiency		Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.
http://purl.obolibrary.org/obo/MONDO_0024537	Brown-Vialetto-van Laere syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008891	riboflavin transporter deficiency		Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.
http://purl.obolibrary.org/obo/MONDO_0024540	Jervell and Lange-Nielsen syndrome 1	http://purl.obolibrary.org/obo/MONDO_0002441	Jervell and Lange-Nielsen syndrome		Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
http://purl.obolibrary.org/obo/MONDO_0024541	trichohepatoenteric syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009105	trichohepatoenteric syndrome		Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.
http://purl.obolibrary.org/obo/MONDO_0024542	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009133	cerebellar ataxia, intellectual disability, and dysequilibrium		Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.
http://purl.obolibrary.org/obo/MONDO_0024545	Miyoshi muscular dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0016145	neuromuscular disease caused by qualitative or quantitative defects of dysferlin		Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.
http://purl.obolibrary.org/obo/MONDO_0024553	myopathy, lactic acidosis, and sideroblastic anemia 1	http://purl.obolibrary.org/obo/MONDO_0000863	myopathy, lactic acidosis, and sideroblastic anemia		Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.
http://purl.obolibrary.org/obo/MONDO_0024554	D-2-hydroxyglutaric aciduria 1	http://purl.obolibrary.org/obo/MONDO_0010924	D-2-hydroxyglutaric aciduria		Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.
http://purl.obolibrary.org/obo/MONDO_0024556	epilepsy, familial focal, with variable foci 1	http://purl.obolibrary.org/obo/MONDO_0020310	familial focal epilepsy with variable foci		Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.
http://purl.obolibrary.org/obo/MONDO_0024557	ataxia-telangiectasia-like disorder 1	http://purl.obolibrary.org/obo/MONDO_0011457	ataxia-telangiectasia-like disorder		Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.
http://purl.obolibrary.org/obo/MONDO_0024565	ectodermal dysplasia-syndactyly syndrome 1	http://purl.obolibrary.org/obo/MONDO_0013311	ectodermal dysplasia-syndactyly syndrome		Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.
http://purl.obolibrary.org/obo/MONDO_0024567	hypotonia, infantile, with psychomotor retardation and characteristic facies 1	http://purl.obolibrary.org/obo/MONDO_0014176	hypotonia, infantile, with psychomotor retardation and characteristic facies		Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
http://purl.obolibrary.org/obo/MONDO_0024568	infantile liver failure syndrome 1	http://purl.obolibrary.org/obo/MONDO_0000023	infantile liver failure		Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.
http://purl.obolibrary.org/obo/MONDO_0024570	hyperparathyroidism 4	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.
http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0024516	familial acne inversa	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005217	familial cardiomyopathy		Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.
http://purl.obolibrary.org/obo/MONDO_0100016	early-onset generalized dystonia	http://purl.obolibrary.org/obo/MONDO_0000476	generalized dystonia		A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.
http://purl.obolibrary.org/obo/MONDO_0024349	pityriasis alba	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		A prevalent and benign dermatological condition that predominantly affects children and adolescents. The name "pityriasis alba" derives from its appearance, where "pityriasis" denotes the fine scales and "alba" signifies the pale color (hypopigmentation).
http://purl.obolibrary.org/obo/MONDO_0024354	cytomegalovirus pneumonia	http://purl.obolibrary.org/obo/MONDO_0006012	viral pneumonia		Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.
http://purl.obolibrary.org/obo/MONDO_0024357	drug induced central sleep apnea	http://purl.obolibrary.org/obo/MONDO_0004731	central sleep apnea syndrome		A central sleep apnea syndrome induced by medication or substance use. Central sleep apnea is caused by improper signaling from the brainstem to the respiratory muscles and is triggered by either hypoventilation or hyperventilation. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating, and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.
http://purl.obolibrary.org/obo/MONDO_0024358	complex sleep apnea	http://purl.obolibrary.org/obo/MONDO_0007147	obstructive sleep apnea syndrome		A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.
http://purl.obolibrary.org/obo/MONDO_0024359	central sleep apnea due to periodic breathing	http://purl.obolibrary.org/obo/MONDO_0004731	central sleep apnea syndrome		A sleep-related disorder characterized by cyclical breathing patterns where periods of shallow or absent breathing (apneas or hypopneas) alternate with periods of deeper breathing (hyperpnea). This cyclical pattern is caused by an instability in the body's respiratory control system, where the brain doesn't properly regulate breathing effort.
http://purl.obolibrary.org/obo/MONDO_0024360	central sleep apnea caused by high altitude	http://purl.obolibrary.org/obo/MONDO_0004731	central sleep apnea syndrome		A central sleep apnea syndrome induced by sleeping at an altitude higher than 2000 m. Central sleep apnea is caused by improper signaling from the brainstem to the respiratory muscles and is triggered by either hypoventilation or hyperventilation. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating, and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.
http://purl.obolibrary.org/obo/MONDO_0024386	large cell lung carcinoma, clear cell variant	http://purl.obolibrary.org/obo/MONDO_0003050	lung large cell carcinoma		A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.
http://purl.obolibrary.org/obo/MONDO_0024410	infection caused by Bifidobacterium	http://purl.obolibrary.org/obo/MONDO_0021679	gram-positive bacterial infections		A disease caused by infection with Bifidobacterium.
http://purl.obolibrary.org/obo/MONDO_0024412	Peptostreptococcus infectious disease	http://purl.obolibrary.org/obo/MONDO_0024389	anaerobic bacteria infectious disease		A disease caused by infection with Peptostreptococcus.
http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		A disease that involves the visual system.
http://purl.obolibrary.org/obo/MONDO_0024464	pituitary hormone deficiency, combined, 1	http://purl.obolibrary.org/obo/MONDO_0013099	combined pituitary hormone deficiencies, genetic form		Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.
http://purl.obolibrary.org/obo/MONDO_0024469	chondrogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002616	mesenchymal cell neoplasm		A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.
http://purl.obolibrary.org/obo/MONDO_0024474	intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition		A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).
http://purl.obolibrary.org/obo/MONDO_0024485	papillary urothelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0024483	urothelial hyperplasia		A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003
http://purl.obolibrary.org/obo/MONDO_0024488	tumor grading characteristic	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread
http://purl.obolibrary.org/obo/MONDO_0024489	general tumor grading characteristic	http://purl.obolibrary.org/obo/MONDO_0024488	tumor grading characteristic		A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated.
http://purl.obolibrary.org/obo/MONDO_0024496	tumor grade 2 or 3, general grading system	http://purl.obolibrary.org/obo/MONDO_0024489	general tumor grading characteristic		A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated.
http://purl.obolibrary.org/obo/MONDO_0024504	enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021535	pancreatic neuroendocrine tumor G1		A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.
http://purl.obolibrary.org/obo/MONDO_0024518	reactive thrombocytosis	http://purl.obolibrary.org/obo/MONDO_0002249	thrombocytosis disease		A thrombocytosis caused by an underlying condition, such as an infection.
http://purl.obolibrary.org/obo/MONDO_0024523	aortic valve disease 1	http://purl.obolibrary.org/obo/MONDO_0007194	familial bicuspid aortic valve		Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.
http://purl.obolibrary.org/obo/MONDO_0024531	myopathy, tubular aggregate, 1	http://purl.obolibrary.org/obo/MONDO_0008051	tubular aggregate myopathy		Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.
http://purl.obolibrary.org/obo/MONDO_0024533	pulmonary hypertension, primary, 1	http://purl.obolibrary.org/obo/MONDO_0017148	heritable pulmonary arterial hypertension		Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.
http://purl.obolibrary.org/obo/MONDO_0024535	Singleton-Merten syndrome 1	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.
http://purl.obolibrary.org/obo/MONDO_0024539	choroidal dystrophy, central areolar, 1	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
http://purl.obolibrary.org/obo/MONDO_0024543	brittle cornea syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009242	brittle cornea syndrome		Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.
http://purl.obolibrary.org/obo/MONDO_0024546	hypertrophic osteoarthropathy, primary, autosomal recessive, 1	http://purl.obolibrary.org/obo/MONDO_0016620	primary hypertrophic osteoarthropathy		Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.
http://purl.obolibrary.org/obo/MONDO_0024547	pancreatic agenesis 1	http://purl.obolibrary.org/obo/MONDO_0009832	pancreatic agenesis		Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.
http://purl.obolibrary.org/obo/MONDO_0024548	peeling skin syndrome 1	http://purl.obolibrary.org/obo/MONDO_0010033	generalized peeling skin syndrome		Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.
http://purl.obolibrary.org/obo/MONDO_0024550	frontometaphyseal dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0015942	frontometaphyseal dysplasia		Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.
http://purl.obolibrary.org/obo/MONDO_0024551	X-linked lymphoproliferative disease due to SH2D1A deficiency	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.
http://purl.obolibrary.org/obo/MONDO_0024552	linear skin defects with multiple congenital anomalies 1	http://purl.obolibrary.org/obo/MONDO_0010672	linear skin defects with multiple congenital anomalies		Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.
http://purl.obolibrary.org/obo/MONDO_0024558	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	http://purl.obolibrary.org/obo/MONDO_0011555	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome		Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.
http://purl.obolibrary.org/obo/MONDO_0024561	vitelliform macular dystrophy 3	http://purl.obolibrary.org/obo/MONDO_1040055	PRPH2-related retinopathy		Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
http://purl.obolibrary.org/obo/MONDO_0024562	sick sinus syndrome 1	http://purl.obolibrary.org/obo/MONDO_1010181	SCN5A-related cardiac rhythm disorder		Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.
http://purl.obolibrary.org/obo/MONDO_0024563	herpes simplex encephalitis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene.
http://purl.obolibrary.org/obo/MONDO_0024564	cerebroretinal microangiopathy with calcifications and cysts 1	http://purl.obolibrary.org/obo/MONDO_0012815	Coats plus syndrome		Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.
http://purl.obolibrary.org/obo/MONDO_0024572	immunodeficiency-related disorder	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.
http://purl.obolibrary.org/obo/MONDO_0100019	ECHS1-related paroxysmal dyskinesia	http://purl.obolibrary.org/obo/MONDO_0015427	paroxysmal dyskinesia		A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.
http://purl.obolibrary.org/obo/MONDO_0043287	superior vena cava syndrome	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.
http://purl.obolibrary.org/obo/MONDO_0060766	anal polyp	http://purl.obolibrary.org/obo/MONDO_0002519	anus disorder		A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.
http://purl.obolibrary.org/obo/MONDO_0020662	borderline ovarian serous tumor	http://purl.obolibrary.org/obo/MONDO_0016093	borderline epithelial tumor of ovary		A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.
http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology	http://purl.obolibrary.org/obo/HP_0000069	Abnormality of the ureter		A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
http://purl.obolibrary.org/obo/HP_0025634	Abnormal ureter physiology	http://purl.obolibrary.org/obo/HP_0000069	Abnormality of the ureter		A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
http://purl.obolibrary.org/obo/HP_0500258	Abnormal carbon dioxide level in cord blood	http://purl.obolibrary.org/obo/HP_0410211	Abnormal blood gas level in cord blood		Abnormal amount of carbon dioxide in umbilical cord blood
http://purl.obolibrary.org/obo/HP_0500259	Abnormal oxygen level in cord blood	http://purl.obolibrary.org/obo/HP_0410211	Abnormal blood gas level in cord blood		An abnormal level of blood oxygen in the cord blood.
http://purl.obolibrary.org/obo/MONDO_0100417	acute myeloid leukemia, WT1 gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)
http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		The initial viral infectious disase that causes illness.
http://purl.obolibrary.org/obo/MONDO_0700005	idiopathic	http://purl.obolibrary.org/obo/MONDO_0700004	idiopathic vs non-idiopathic		A disease characteristic in which the disease has an uncertain or unknown cause.
http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease	http://purl.obolibrary.org/obo/MONDO_7770008	disease by etiologic mechanism		A disease or disorder for which the cause is of uncertain or unknown.
http://purl.obolibrary.org/obo/MONDO_0700057	neurological pain disorder	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A nervous system disorder that has pain as a major feature.
http://purl.obolibrary.org/obo/MONDO_0700062	mosaic	http://purl.obolibrary.org/obo/MONDO_0700061	mosaic vs complete		A disease characteristic in which the cause of the disease is present in some of the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0100330	disease arising from reactivation of latent virus	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.
http://purl.obolibrary.org/obo/MONDO_0100366	occupational disorder	http://purl.obolibrary.org/obo/MONDO_7770010	disease of primarily extrinsic mechanism		Any disorder that is realized in response to an exposure to occupation.
http://purl.obolibrary.org/obo/MONDO_0700002	ATP1A3-associated neurological disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.
http://purl.obolibrary.org/obo/MONDO_0700065	trisomy	http://purl.obolibrary.org/obo/MONDO_0700064	aneuploidy		A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.
http://purl.obolibrary.org/obo/MONDO_0100017	pityriasis rubra pilaris	http://purl.obolibrary.org/obo/MONDO_0019270	erythrokeratoderma		A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).
http://purl.obolibrary.org/obo/MONDO_0100259	peroxisome biogenesis disorder due to PEX1 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.
http://purl.obolibrary.org/obo/MONDO_0100262	peroxisome biogenesis disorder due to PEX5 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.
http://purl.obolibrary.org/obo/MONDO_0100272	peroxisome biogenesis disorder due to PEX7 defect	http://purl.obolibrary.org/obo/MONDO_0100322	non-Zellweger spectrum disorder		Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.
http://purl.obolibrary.org/obo/MONDO_0100273	glyceronephosphate O-acyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0017986	disorder of plasmalogens biosynthesis		Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.
http://purl.obolibrary.org/obo/MONDO_0100356	classic presentation	http://purl.obolibrary.org/obo/MONDO_0100355	classic or non-classic genetic disease presentation		A severe form of a genetic disease.
http://purl.obolibrary.org/obo/MONDO_0100357	non-classic presentation	http://purl.obolibrary.org/obo/MONDO_0100355	classic or non-classic genetic disease presentation		A mild or intermediate form of a genetic disease.
http://purl.obolibrary.org/obo/MONDO_0100429	intrahepatic cholestasis of pregnancy	http://purl.obolibrary.org/obo/MONDO_0019072	intrahepatic cholestasis		A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.
http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.
http://purl.obolibrary.org/obo/MONDO_0100258	phytanoyl-CoA hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0100277	disorder of peroxisomal alpha oxidation		Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.
http://purl.obolibrary.org/obo/MONDO_0100266	peroxisome biogenesis disorder due to PEX12 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.
http://purl.obolibrary.org/obo/MONDO_0100278	alanine glyoxylate aminotransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0017703	disorder of glyoxylate metabolism		Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.
http://purl.obolibrary.org/obo/MONDO_0100306	disorder of defective peroxisome oxidative status	http://purl.obolibrary.org/obo/MONDO_0100257	peroxisomal single enzyme/protein defect		Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.
http://purl.obolibrary.org/obo/MONDO_0700067	myopathy caused by variation in FKTN	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Any myopathy in which the cause of the disease is a variation in the FKTN gene.
http://purl.obolibrary.org/obo/MONDO_0700068	myopathy caused by variation in POMGNT1	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.
http://purl.obolibrary.org/obo/MONDO_0700070	myopathy caused by variation in POMT1	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Any myopathy in which the cause of the disease is a variation in the POMT1 gene.
http://purl.obolibrary.org/obo/MONDO_0100274	alkylglycerone-phosphate synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0017986	disorder of plasmalogens biosynthesis		Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.
http://purl.obolibrary.org/obo/MONDO_0700066	myopathy caused by variation in FKRP	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Any myopathy in which the cause of the disease is a variation in the FKRP gene.
http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.
http://purl.obolibrary.org/obo/MONDO_0700088	paroxysmal nonkinesigenic dyskinesia	http://purl.obolibrary.org/obo/MONDO_0015427	paroxysmal dyskinesia		Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.
http://purl.obolibrary.org/obo/MONDO_0100260	peroxisome biogenesis disorder due to PEX2 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.
http://purl.obolibrary.org/obo/MONDO_0100261	peroxisome biogenesis disorder due to PEX3 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.
http://purl.obolibrary.org/obo/MONDO_0100263	peroxisome biogenesis disorder due to PEX6 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.
http://purl.obolibrary.org/obo/MONDO_0100264	peroxisome biogenesis disorder due to PEX10 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.
http://purl.obolibrary.org/obo/MONDO_0100265	peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain	http://purl.obolibrary.org/obo/MONDO_0100322	non-Zellweger spectrum disorder		Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.
http://purl.obolibrary.org/obo/MONDO_0100267	peroxisome biogenesis disorder due to PEX13 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.
http://purl.obolibrary.org/obo/MONDO_0100268	peroxisome biogenesis disorder due to PEX14 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.
http://purl.obolibrary.org/obo/MONDO_0100269	peroxisome biogenesis disorder due to PEX16 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.
http://purl.obolibrary.org/obo/MONDO_0100270	peroxisome biogenesis disorder due to PEX19 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.
http://purl.obolibrary.org/obo/MONDO_0100271	peroxisome biogenesis disorder due to PEX26 defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.
http://purl.obolibrary.org/obo/MONDO_0100275	fatty acyl-CoA reductase defects	http://purl.obolibrary.org/obo/MONDO_0017986	disorder of plasmalogens biosynthesis		Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.
http://purl.obolibrary.org/obo/MONDO_0100279	peroxisome biogenesis disorder due to PEX11B defect	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.
http://purl.obolibrary.org/obo/MONDO_0100365	mucopolysaccharidosis or mucopolysaccharidosis-like disorder	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.
http://purl.obolibrary.org/obo/MONDO_0100372	disorder of peroxisomal transporter	http://purl.obolibrary.org/obo/MONDO_0100257	peroxisomal single enzyme/protein defect		Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.
http://purl.obolibrary.org/obo/MONDO_0700075	congenital muscular dystrophy caused by variation in POMGNT2	http://purl.obolibrary.org/obo/MONDO_0700069	myopathy caused by variation in POMGNT2		Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.
http://purl.obolibrary.org/obo/MONDO_0700085	pentasomy	http://purl.obolibrary.org/obo/MONDO_0700064	aneuploidy		A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.
http://purl.obolibrary.org/obo/MONDO_0700091	ring chromosome disorder	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.
http://purl.obolibrary.org/obo/MONDO_0100257	peroxisomal single enzyme/protein defect	http://purl.obolibrary.org/obo/MONDO_0019053	peroxisomal disease		Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.
http://purl.obolibrary.org/obo/MONDO_0600023	idiopathic inflammatory myopathy	http://purl.obolibrary.org/obo/MONDO_0021167	myositis disease		Idiopathic form of inflammatory myopathy.
http://purl.obolibrary.org/obo/MONDO_0700003	obstetric disorder	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		Disorder associated with pregnancy, childbirth, and puerperium.
http://purl.obolibrary.org/obo/MONDO_0700064	aneuploidy	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.
http://purl.obolibrary.org/obo/MONDO_0030266	immunodeficiency 80 with or without congenital cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.
http://purl.obolibrary.org/obo/MONDO_0030300	cardiomyopathy, dilated, 2D	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.
http://purl.obolibrary.org/obo/MONDO_0030302	immunodeficiency 81	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.
http://purl.obolibrary.org/obo/MONDO_0030308	immunodeficiency 82 with systemic inflammation	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.
http://purl.obolibrary.org/obo/MONDO_0030309	Leber hereditary optic neuropathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		A form of mitochondrial disease that is caused by biallelic (autosomal recessive) mutations in nuclear‑encoded genes normally associated with mitochondrial Complex I subunits or assembly factors. It is characterized by sudden, painless central vision loss, optic nerve microangiopathy, and eventual atrophy in the absence of mtDNA mutations.
http://purl.obolibrary.org/obo/MONDO_0030361	Aicardi-Goutieres syndrome 8	http://purl.obolibrary.org/obo/MONDO_0018866	Aicardi-Goutieres syndrome		A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.
http://purl.obolibrary.org/obo/MONDO_0030362	Aicardi-Goutieres syndrome 9	http://purl.obolibrary.org/obo/MONDO_0700263	RNU7-1-related type 1 interferonopathy		A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.
http://purl.obolibrary.org/obo/MONDO_0030366	cardiomyopathy, dilated, 2E	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.
http://purl.obolibrary.org/obo/MONDO_0035349	localized dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_0035362	TRIM22-related inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.
http://purl.obolibrary.org/obo/MONDO_0035370	ALPI-related inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene.
http://purl.obolibrary.org/obo/MONDO_0100003	susceptibility to angioedema induced by ACE inhibitors	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema.
http://purl.obolibrary.org/obo/MONDO_0100018	adult onset pityriasis rubra pilaris	http://purl.obolibrary.org/obo/MONDO_0100017	pityriasis rubra pilaris		A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.
http://purl.obolibrary.org/obo/MONDO_0100037	juvenile onset pityriasis rubra pilaris	http://purl.obolibrary.org/obo/MONDO_0100017	pityriasis rubra pilaris		A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.
http://purl.obolibrary.org/obo/MONDO_0100041	secondary trimethylaminuria	http://purl.obolibrary.org/obo/MONDO_0011182	trimethylaminuria		A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.
http://purl.obolibrary.org/obo/MONDO_0100050	Usher syndrome, type 1D/F	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes.
http://purl.obolibrary.org/obo/MONDO_0100055	intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements	http://purl.obolibrary.org/obo/MONDO_0002581	spindle cell rhabdomyosarcoma		Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.
http://purl.obolibrary.org/obo/MONDO_0100060	congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements	http://purl.obolibrary.org/obo/MONDO_0002581	spindle cell rhabdomyosarcoma		Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.
http://purl.obolibrary.org/obo/MONDO_0100067	childhood spindle cell rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002581	spindle cell rhabdomyosarcoma		A spindle cell rhabdomyosarcoma occurring in children.
http://purl.obolibrary.org/obo/MONDO_0100077	congenital alveolar dysplasia	http://purl.obolibrary.org/obo/MONDO_0020295	congenital pulmonary veins anomaly		A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.
http://purl.obolibrary.org/obo/MONDO_0100090	congenital alveolar dysplasia due to FGF10	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.
http://purl.obolibrary.org/obo/MONDO_0100097	congenital alveolar dysplasia due to TBX4	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.
http://purl.obolibrary.org/obo/MONDO_0100099	retrograde cricopharyngeus dysfunction	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD.
http://purl.obolibrary.org/obo/MONDO_0100109	Zinner syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction.
http://purl.obolibrary.org/obo/MONDO_0100111	focal segmental glomerulosclerosis and neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.
http://purl.obolibrary.org/obo/MONDO_0100276	disorder of defective peroxisomal and mitochondrial fission	http://purl.obolibrary.org/obo/MONDO_0019053	peroxisomal disease		A disease that has its basis in the disruption of peroxisome and mitochondrial fission.
http://purl.obolibrary.org/obo/MONDO_0100277	disorder of peroxisomal alpha oxidation	http://purl.obolibrary.org/obo/MONDO_0100257	peroxisomal single enzyme/protein defect		Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.
http://purl.obolibrary.org/obo/MONDO_0100304	disorder of bile acid aminotransferase	http://purl.obolibrary.org/obo/MONDO_0100257	peroxisomal single enzyme/protein defect		Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.
http://purl.obolibrary.org/obo/MONDO_0100305	bile acid CoA:amino acid N-acyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0100304	disorder of bile acid aminotransferase		Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.
http://purl.obolibrary.org/obo/MONDO_0100307	adult Refsum disease due to PEX7 defect	http://purl.obolibrary.org/obo/MONDO_0100272	peroxisome biogenesis disorder due to PEX7 defect		An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.
http://purl.obolibrary.org/obo/MONDO_0100315	isolated adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0018544	adrenoleukodystrophy		An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.
http://purl.obolibrary.org/obo/MONDO_0100322	non-Zellweger spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0019234	peroxisome biogenesis disorder		A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.
http://purl.obolibrary.org/obo/MONDO_0100353	HHV-7 infectious disease	http://purl.obolibrary.org/obo/MONDO_0005949	roseolovirus infectious disease		A disease caused by infection with herpesvirus-7.
http://purl.obolibrary.org/obo/MONDO_0100355	classic or non-classic genetic disease presentation	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		A classic (severe) or non-classic (mild or intermediate) form of a genetic disease.
http://purl.obolibrary.org/obo/MONDO_0100359	herpes simplex type 1 infectious disease	http://purl.obolibrary.org/obo/MONDO_0004609	herpes simplex infectious disease		A disease caused by infection with herpes simplex type 1.
http://purl.obolibrary.org/obo/MONDO_0100360	herpes simplex type 2 infectious disease	http://purl.obolibrary.org/obo/MONDO_0004609	herpes simplex infectious disease		A disease caused by infection with herpes simplex type 2.
http://purl.obolibrary.org/obo/MONDO_0100361	lip herpes simplex type 1 infectious disorder	http://purl.obolibrary.org/obo/MONDO_0043653	herpes labialis		Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).
http://purl.obolibrary.org/obo/MONDO_0100362	lip herpes simplex type 2 infectious disorder	http://purl.obolibrary.org/obo/MONDO_0043653	herpes labialis		Any herpes simplex type 2 infectious disease that involves the lip.
http://purl.obolibrary.org/obo/MONDO_0100363	genital herpes simplex type 2 infectious disorder	http://purl.obolibrary.org/obo/MONDO_0100360	herpes simplex type 2 infectious disease		Any herpes simplex type 2 infectious disease that involves the genitals.
http://purl.obolibrary.org/obo/MONDO_0100364	genital herpes simplex type 1 infectious disorder	http://purl.obolibrary.org/obo/MONDO_0100359	herpes simplex type 1 infectious disease		Any herpes simplex type 1 infectious disease that involves the genitals.
http://purl.obolibrary.org/obo/MONDO_0100367	port-wine nevi-mega cisterna magna-hydrocephalus syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.
http://purl.obolibrary.org/obo/MONDO_0100370	acute hepatitis B virus infection	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.
http://purl.obolibrary.org/obo/MONDO_0100371	acute hepatitis C virus infection	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.
http://purl.obolibrary.org/obo/MONDO_0100373	acute myeloid leukemia, inv(16)(p13.1;q22)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)
http://purl.obolibrary.org/obo/MONDO_0100374	acute myeloid leukemia, t(16;16)(p13.1;q22)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)
http://purl.obolibrary.org/obo/MONDO_0100375	acute myeloid leukemia, t(15;17)(q24;q21)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100376	acute myeloid leukemia, t(9;11)(p21.3;q23.3)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)
http://purl.obolibrary.org/obo/MONDO_0100377	acute myeloid leukemia, t(10;11)(p12;q23)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)
http://purl.obolibrary.org/obo/MONDO_0100378	acute myeloid leukemia, t(10;11)(p11.2;q23)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100379	acute myeloid leukemia, t(1;11)(q21;q23)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100380	acute myeloid leukemia, t(4;11)(q21;q23)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)
http://purl.obolibrary.org/obo/MONDO_0100381	acute myeloid leukemia, t(6;11)(q27;q23)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100382	acute myeloid leukemia, t(6;9)(p23;q34.1)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)
http://purl.obolibrary.org/obo/MONDO_0100383	acute myeloid leukemia, t(11;19)(q23;p13)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100384	acute myeloid leukemia, t(11;19)(q23;p13.1)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100385	acute myeloid leukemia, t(11;19)(q23.3;p13.3)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100386	acute myeloid leukemia, t(v;11q23.3)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)
http://purl.obolibrary.org/obo/MONDO_0100387	acute myeloid leukemia, Monosomy 7	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)
http://purl.obolibrary.org/obo/MONDO_0100388	acute myeloid leukemia, Monosomy 5	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)
http://purl.obolibrary.org/obo/MONDO_0100389	acute myeloid leukemia, Trisomy 8	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)
http://purl.obolibrary.org/obo/MONDO_0100390	acute myeloid leukemia, der12p	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)
http://purl.obolibrary.org/obo/MONDO_0100391	acute myeloid leukemia, t(2;12)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)
http://purl.obolibrary.org/obo/MONDO_0100392	acute myeloid leukemia, t(11;17)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)
http://purl.obolibrary.org/obo/MONDO_0100393	acute myeloid leukemia, t(8;16)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)
http://purl.obolibrary.org/obo/MONDO_0100394	acute myeloid leukemia, t(1;22)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)
http://purl.obolibrary.org/obo/MONDO_0100395	acute myeloid leukemia, t(5;11)(q35;p15)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)
http://purl.obolibrary.org/obo/MONDO_0100396	acute myeloid leukemia, t(7;12)(q36;p13)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)
http://purl.obolibrary.org/obo/MONDO_0100397	acute myeloid leukemia, t(9;22)(q34.1;q11.2)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)
http://purl.obolibrary.org/obo/MONDO_0100398	acute myeloid leukemia, inv(3)(q21.3;q26.2)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100399	acute myeloid leukemia, t(3;3)(q21.3;q26.2)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100400	acute myeloid leukemia, t(3;12)(q23;p12.3)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100401	acute myeloid leukemia, del(5q31-q32)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)
http://purl.obolibrary.org/obo/MONDO_0100402	acute myeloid leukemia, del(13q14-q21)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)
http://purl.obolibrary.org/obo/MONDO_0100403	acute myeloid leukemia, loss of chromosome 17p	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)
http://purl.obolibrary.org/obo/MONDO_0100404	acute myeloid leukemia, MLL gene rearrangement	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)
http://purl.obolibrary.org/obo/MONDO_0100405	acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)
http://purl.obolibrary.org/obo/MONDO_0100406	acute myeloid leukemia, inv(16)(p13.3;q24.3)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100407	acute myeloid leukemia, t(11;15)(p15;q35)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)
http://purl.obolibrary.org/obo/MONDO_0100408	acute myeloid leukemia, t(16;21)(q24;q22)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100409	acute myeloid leukemia, t(3;5)(q25;q34)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)
http://purl.obolibrary.org/obo/MONDO_0100410	acute myeloid leukemia, t(16;21)(p11;q22)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)
http://purl.obolibrary.org/obo/MONDO_0100412	acute myeloid leukemia, monoallelic CEBPA gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)
http://purl.obolibrary.org/obo/MONDO_0100413	acute myeloid leukemia, biallelic CEBPA gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)
http://purl.obolibrary.org/obo/MONDO_0100414	acute myeloid leukemia, CEBPA gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)
http://purl.obolibrary.org/obo/MONDO_0100415	acute myeloid leukemia, FLT3 internal tandem duplication	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)
http://purl.obolibrary.org/obo/MONDO_0100416	acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)
http://purl.obolibrary.org/obo/MONDO_0100418	acute myeloid leukemia, KIT exon 17 mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)
http://purl.obolibrary.org/obo/MONDO_0100419	acute myeloid leukemia, KIT exon 8 mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)
http://purl.obolibrary.org/obo/MONDO_0100420	acute myeloid leukemia, KIT gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)
http://purl.obolibrary.org/obo/MONDO_0100421	acute myeloid leukemia, GATA1 gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)
http://purl.obolibrary.org/obo/MONDO_0100422	acute myeloid leukemia, RUNX1 gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)
http://purl.obolibrary.org/obo/MONDO_0100423	acute myeloid leukemia, PTPN11 gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)
http://purl.obolibrary.org/obo/MONDO_0100424	acute myeloid leukemia, NRAS gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)
http://purl.obolibrary.org/obo/MONDO_0100425	acute myeloid leukemia, KRAS gene mutation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)
http://purl.obolibrary.org/obo/MONDO_0500018	acute fibrinous and organizing pneumonia	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.
http://purl.obolibrary.org/obo/MONDO_0550003	SEC61B-related polycystic liver disease	http://purl.obolibrary.org/obo/MONDO_0000447	autosomal dominant polycystic liver disease		Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.
http://purl.obolibrary.org/obo/MONDO_0600014	alveolar capillary dysplasia without misalignment of pulmonary veins	http://purl.obolibrary.org/obo/MONDO_0020295	congenital pulmonary veins anomaly		A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.
http://purl.obolibrary.org/obo/MONDO_0600016	acinar dysplasia	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.
http://purl.obolibrary.org/obo/MONDO_0600017	acinar dysplasia caused by mutation in FGF10	http://purl.obolibrary.org/obo/MONDO_0600016	acinar dysplasia		Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.
http://purl.obolibrary.org/obo/MONDO_0600018	acinar dysplasia caused by mutation in FGFR2	http://purl.obolibrary.org/obo/MONDO_0600016	acinar dysplasia		Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.
http://purl.obolibrary.org/obo/MONDO_0600019	acinar dysplasia caused by mutation in TBX4	http://purl.obolibrary.org/obo/MONDO_0600016	acinar dysplasia		Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.
http://purl.obolibrary.org/obo/MONDO_0600024	familial idiopathic inflammatory myopathy	http://purl.obolibrary.org/obo/MONDO_0600023	idiopathic inflammatory myopathy		An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.
http://purl.obolibrary.org/obo/MONDO_0600025	hydrosalpinx	http://purl.obolibrary.org/obo/MONDO_0002156	fallopian tube disorder		Fluid accumulation and dilatation of the fallopian tube due to tubal blockage.
http://purl.obolibrary.org/obo/MONDO_0600026	vanishing lung syndrome	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.
http://purl.obolibrary.org/obo/MONDO_0600027	congenital right-sided heart lesions	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.
http://purl.obolibrary.org/obo/MONDO_0600029	restrictive pulmonary disease	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.
http://purl.obolibrary.org/obo/MONDO_0600030	B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.
http://purl.obolibrary.org/obo/MONDO_0700000	ALG9-associated autosomal dominant polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0004691	autosomal dominant polycystic kidney disease		Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.
http://purl.obolibrary.org/obo/MONDO_0700001	shrinking lung syndrome	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.
http://purl.obolibrary.org/obo/MONDO_0700004	idiopathic vs non-idiopathic	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		A disease characteristic in which the cause of the disease is known or unknown.
http://purl.obolibrary.org/obo/MONDO_0700006	non-idiopathic	http://purl.obolibrary.org/obo/MONDO_0700004	idiopathic vs non-idiopathic		A disease characteristic in which the disease has a known cause.
http://purl.obolibrary.org/obo/MONDO_0700060	leukemia, acute, X-linked	http://purl.obolibrary.org/obo/MONDO_0010643	acute leukemia		X-linked form of acute leukemia
http://purl.obolibrary.org/obo/MONDO_0700061	mosaic vs complete	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700063	complete	http://purl.obolibrary.org/obo/MONDO_0700061	mosaic vs complete		A disease characteristic in which the cause of the disease is present in all the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700069	myopathy caused by variation in POMGNT2	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.
http://purl.obolibrary.org/obo/MONDO_0700087	Usher syndrome type 1B	http://purl.obolibrary.org/obo/MONDO_0010168	Usher syndrome type 1		Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene
http://purl.obolibrary.org/obo/MONDO_0700089	paroxysmal nonkinesigenic dyskinesia 1	http://purl.obolibrary.org/obo/MONDO_0700088	paroxysmal nonkinesigenic dyskinesia		Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.
http://purl.obolibrary.org/obo/MONDO_0700090	epilepsy, familial temporal lobe, 1	http://purl.obolibrary.org/obo/MONDO_0005115	temporal lobe epilepsy		An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.
http://purl.obolibrary.org/obo/MONDO_0800001	delayed sleep phase syndrome, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing delayed sleep phase syndrome.
http://purl.obolibrary.org/obo/MONDO_8000000	infectious discitis	http://purl.obolibrary.org/obo/MONDO_0037847	vertebral joint disorder		An infection of the intervertebral disk space.
http://purl.obolibrary.org/obo/MONDO_8000001	staphylococcus discitis	http://purl.obolibrary.org/obo/MONDO_8000000	infectious discitis		Discitis caused by infection with Staphylococcus.
http://purl.obolibrary.org/obo/MONDO_8000002	escherichia coli discitis	http://purl.obolibrary.org/obo/MONDO_0020920	escherichia coli infection		Discitis caused by infection with Escherichia coli.
http://purl.obolibrary.org/obo/MONDO_8000003	streptococcus pneumoniae discitis	http://purl.obolibrary.org/obo/MONDO_8000000	infectious discitis		Discitis caused by infection with Streptococcus pneumoniae.
http://purl.obolibrary.org/obo/MONDO_8000004	salmonella discitis	http://purl.obolibrary.org/obo/MONDO_8000000	infectious discitis		Discitis caused by infection with Salmonella.
http://purl.obolibrary.org/obo/MONDO_8000005	fungal discitis	http://purl.obolibrary.org/obo/MONDO_8000000	infectious discitis		Discitis caused by infection with fungi.
http://purl.obolibrary.org/obo/HP_0034391	Elbow contracture	http://purl.obolibrary.org/obo/HP_0100360	Upper-limb joint contracture		A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
http://purl.obolibrary.org/obo/MONDO_0800385	iron poisoning	http://purl.obolibrary.org/obo/MONDO_0023305	heavy metal poisoning		A heavy metal poisoning that is caused by exposure to iron. Iron toxicity is classified as corrosive or cellular. Ingested iron can cause direct caustic injury to the gastrointestinal mucosa, resulting in nausea, vomiting, abdominal pain, and diarrhea.
http://purl.obolibrary.org/obo/MONDO_0800386	organophosphate poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to organophosphate.
http://purl.obolibrary.org/obo/MONDO_0800390	chemotherapy-induced toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Toxicities following administration of chemotherapeutic agents
http://purl.obolibrary.org/obo/MONDO_0700247	RAB18 deficiency	http://purl.obolibrary.org/obo/MONDO_0016073	syndromic microphthalmia		Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.
http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration	http://purl.obolibrary.org/obo/HP_0032180	Abnormal circulating metabolite concentration		Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.
http://purl.obolibrary.org/obo/MONDO_0700262	IFIH1-related type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.
http://purl.obolibrary.org/obo/MONDO_0700255	paraneoplastic renal syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome		Paraneoplastic syndrome that involves the renal system.
http://purl.obolibrary.org/obo/MONDO_0700266	paraneoplastic cutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome		Paraneoplastic syndrome that involves the integumental system.
http://purl.obolibrary.org/obo/MONDO_1040016	cerebral artery stenosis	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		A cerebrovascular disorder characterized by an abnormal narrowing of a cerebral artery.
http://purl.obolibrary.org/obo/MONDO_1040017	intestinal fistula	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		An intestinal disorder characterized by an opening in the intestine to some epithelial surface.
http://purl.obolibrary.org/obo/MONDO_1040015	infectious disease with sepsis	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infectious disease characterized by life-threatening organ dysfunction due to a dysreguated host response.
http://purl.obolibrary.org/obo/MONDO_1040019	Enterococcus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		A bacterial disease caused by infection with Enterococcus.
http://purl.obolibrary.org/obo/MONDO_1040010	IRF6-related condition	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Van der Woude syndrome, popliteal pterygium syndrome, cleft lip with or without palate, or a spectrum of one or two of those conditions in which the cause of the disease is a mutation in the IRF6 gene.
http://purl.obolibrary.org/obo/MONDO_1040041	FZD4-related exudative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0019516	exudative vitreoretinopathy		Any exudative vitreoretinopathy caused by a variant in the FZD4 gene.
http://purl.obolibrary.org/obo/MONDO_1040028	PDE6C-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the PDE6C gene.
http://purl.obolibrary.org/obo/MONDO_1040034	PDE6G-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the PDE6G gene.
http://purl.obolibrary.org/obo/MONDO_1040049	TTC8-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the TTC8 gene.
http://purl.obolibrary.org/obo/MONDO_1040052	PROM1-related recessive retinopathy	http://purl.obolibrary.org/obo/MONDO_1040056	PROM1-related retinopathy		Any retinopathy caused by autosomal recessive variants in the PROM1 gene.
http://purl.obolibrary.org/obo/MONDO_1040054	DHDDS-CDG	http://purl.obolibrary.org/obo/MONDO_0024322	disorder of glycosylation		Any congenital disorder of glycosylation caused by variants in the DHDDS gene.
http://purl.obolibrary.org/obo/MONDO_1040056	PROM1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the PROM1 gene.
http://purl.obolibrary.org/obo/MONDO_1040001	TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Any developmental defect during embryogenesis in which the cause of the disease is a mutation in the TP63 gene. This disease is characterized by variable ectodermal dysplasia, limb defects, and orofacial clefting.
http://purl.obolibrary.org/obo/MONDO_1040023	NDUFB11-related disorders	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities.
http://purl.obolibrary.org/obo/MONDO_1010097	DHDDS-related syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Any neurological disorder in which the cause of the disease is a mutation in the DHDDS gene.
http://purl.obolibrary.org/obo/MONDO_1012586	oculocutaneous albinism, TYR-related, Japanese ratsnake	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in Japanese ratsnake due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012587	oculocutaneous albinism, TYR-related, American mink	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in American mink due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012588	oculocutaneous albinism, TYR-related, Japanese raccoon dog	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in Japanese raccoon dog due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012589	oculocutaneous albinism, TYR-related, Japanese medaka	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in Japanese medaka due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012590	oculocutaneous albinism, TYR-related, water buffalo	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in water buffalo due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012591	oculocutaneous albinism, TYR-related, tufted capuchin	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in tufted capuchin due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012592	oculocutaneous albinism, TYR-related, dog	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in dogs due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012593	oculocutaneous albinism, TYR-related, red fox	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in red fox due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012594	oculocutaneous albinism, TYR-related, domestic ferret	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in domestic ferrets due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012595	oculocutaneous albinism, TYR-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in cats due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012596	oculocutaneous albinism, TYR-related, humpback whale	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in humpback whales due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012597	oculocutaneous albinism, TYR-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in cattle due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012598	oculocutaneous albinism, TYR-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in rabbits due to a mutation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_1012599	autosomal recessive cystinuria, SLC3A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012968	cystinuria, non-human animal		Any autosomal recessive cystinuria that occurs in dogs due to a mutation in the SLC3A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012600	cystinuria, SLC3A1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012968	cystinuria, non-human animal		Any cystinuria that occurs in cats due to a mutation in the SLC3A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012601	sex-linked dwarfism, GHR-related, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Any sex-linked dwarfism that occurs in chickens due to a mutation in the GHR gene.
http://purl.obolibrary.org/obo/MONDO_1012602	GM2 gangliosidosis, dog	http://purl.obolibrary.org/obo/MONDO_1010840	gangliosidosis, dog		A lysosomal storage disease that occurs in dogs in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1012603	GM2 gangliosidosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010841	gangliosidosis, domestic cat		A lysosomal storage disease that occurs in cats in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1012604	GM2 gangliosidosis, pig	http://purl.obolibrary.org/obo/MONDO_1010842	gangliosidosis, pig		A lysosomal storage disease that occurs in pigs in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1012620	congenital myasthenic syndrome, CHRNE-related, dog	http://purl.obolibrary.org/obo/MONDO_1012175	myasthenia, dog		Inherited disorder of neuromuscular transmission resulting in muscle weakness and fatigability exacerbated by exercise that occurs in dogs due to a mutation in the CHRNE gene.
http://purl.obolibrary.org/obo/MONDO_1012621	congenital myasthenic syndrome, CHRNE-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011849	myasthenia, non-human animal		Inherited disorder of neuromuscular transmission resulting in progressive muscle weakness and mortality that occurs in young calves due to a mutation in the CHRNE gene.
http://purl.obolibrary.org/obo/MONDO_1012662	dwarfism, ACAN-related, horse	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism that occurs in horses due to a mutation in the ACAN gene.
http://purl.obolibrary.org/obo/MONDO_1012663	dwarfism, ACAN-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism that occurs in cattle due to a mutation in the ACAN gene.
http://purl.obolibrary.org/obo/MONDO_1012675	osteochondrodysplasia, SLC13A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011194	osteochondrodysplasia, dog		Hereditary osteochondrodysplasia that occurs in dogs due to a mutation in the SLC13A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012676	chondrodysplasia, SLC13A1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Hereditary chondrodysplasia that occurs in sheep due to a mutation in the SLC13A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012684	congenital muscular dystonia SLC6A5-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010196	congenital myopathy, non-human animal		Lateral recumbency, low head carriage and transient muscle spasms following tactile or auditory stimulation that occurs in cattle due to a mutation in the SLC6A5 gene.
http://purl.obolibrary.org/obo/MONDO_1012685	cone-rod dystrophy, NPHP4-related, dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any cone-rod dystrophy that occurs in dogs due to a mutation in NPHP4 gene.
http://purl.obolibrary.org/obo/MONDO_1012686	GM2 gangliosidosis, HEXA-related, American flamingo	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		A lysosomal storage disease that occurs in American flamingo due to a mutation in the HEXA gene.
http://purl.obolibrary.org/obo/MONDO_1012687	GM2 gangliosidosis, HEXA-related, dog	http://purl.obolibrary.org/obo/MONDO_1010840	gangliosidosis, dog		A lysosomal storage disease that occurs in dogs due to a mutation in the HEXA gene.
http://purl.obolibrary.org/obo/MONDO_1012688	GM2 gangliosidosis, HEXA-related, pig	http://purl.obolibrary.org/obo/MONDO_1010842	gangliosidosis, pig		A lysosomal storage disease that occurs in pigs due to a mutation in the HEXA gene.
http://purl.obolibrary.org/obo/MONDO_1012689	GM2 gangliosidosis, Muntjak deer	http://purl.obolibrary.org/obo/MONDO_1010167	gangliosidosis, non-human animal		A lysosomal storage disease that occurs in Muntjak deer in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme β-hexosaminidase A. It is characterised by depression, ataxia, circling and visual deficits from an early age.
http://purl.obolibrary.org/obo/MONDO_1012690	GM2 gangliosidosis, HEXA-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010167	gangliosidosis, non-human animal		A lysosomal storage disease that occurs in sheep due to a mutation in the HEXA gene.
http://purl.obolibrary.org/obo/MONDO_1012691	GM2 gangliosidosis, rabbit	http://purl.obolibrary.org/obo/MONDO_1010167	gangliosidosis, non-human animal		A lysosomal storage disease that occurs in rabbits in which there is a buildup of GM2 gangliosides in the brain due to the lack of the enzyme β-hexosaminidase A. It is characterised by rapidly progression of neurological signs.
http://purl.obolibrary.org/obo/MONDO_1012694	dwarfism, PRKG2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism that occurs in dogs due to a mutation in the PRKG2 gene.
http://purl.obolibrary.org/obo/MONDO_1012695	dwarfism, PRKG2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism that occurs in cattle due to a mutation in the PRKG2 gene.
http://purl.obolibrary.org/obo/MONDO_1012700	geleophysic dysplasia, ADMATSL2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		A hereditary connective tissue disorder characterized by extensive fibrosis of the skin and joints that occurs in dogs due to a mutation in the ADAMTSL2 gene.
http://purl.obolibrary.org/obo/MONDO_1012733	Ehlers-Danlos syndrome with absence of dermatan sulfate proteoglycan, cattle	http://purl.obolibrary.org/obo/MONDO_1011425	Ehlers-Danlos syndrome, non-human animal		Any Ehlers-Danlos syndrome that occurs in cattle with absence of dermatan sulfate proteoglycan.
http://purl.obolibrary.org/obo/MONDO_1012738	hereditary chondrodysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011194	osteochondrodysplasia, dog		Any hereditary chondrodysplaisa that occurs in dogs characterized by short limbs and radius curvus deformity.
http://purl.obolibrary.org/obo/MONDO_1012741	Chiari-like malformation, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any Chiari malformation that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012742	primary open angle glaucoma, ADAMTS10-related, dog	http://purl.obolibrary.org/obo/MONDO_1012498	primary open angle glaucoma, dog		Any primary open angle glaucoma that occurs in dogs due to a mutation in the ADAMTS10 gene.
http://purl.obolibrary.org/obo/MONDO_1012744	autosomal dominant cystinuria, SLC3A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012968	cystinuria, non-human animal		Any autosomal dominant cystinuria that occurs in dogs due to a mutation in the SLC3A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012745	autosomal dominant cystinuria, SLC7A9-related, dog	http://purl.obolibrary.org/obo/MONDO_1012968	cystinuria, non-human animal		Any autosomal dominant cystinuria that occurs in dogs due to a mutation in the SLC7A9 gene.
http://purl.obolibrary.org/obo/MONDO_1012746	sex-limited cystinuria, dog	http://purl.obolibrary.org/obo/MONDO_1012968	cystinuria, non-human animal		Any androgen-dependent cystinuria that occurs in intact male dogs.
http://purl.obolibrary.org/obo/MONDO_1012750	cleft palate, DLX6-related, dog	http://purl.obolibrary.org/obo/MONDO_1010526	cleft palate, dog		Cleft palate that occurs in dogs due to a mutation in the DLX6 gene.
http://purl.obolibrary.org/obo/MONDO_1012756	congenital liver fibrosis, PKHD1-related, horse	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		A developmental disorder of the biliary system caused by a congenital defect in the remodeling of the ductal plate at the level of the interlobular ducts, resulting in persistence of excessive abnormal embryonic bile duct structures, irregular portal veins, and progressive fibrosis of the portal tracts that occurs in horses due to a mutation in the PKHD1 gene.
http://purl.obolibrary.org/obo/MONDO_1012760	cholesterol deficiency, APOB-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Low plasma cholesterol concentration that occurs in cattle due to a mutation in the APOB gene mutation. The “cholesterol deficiency” is a consequence of a decreased ability to be incorporated into lipoproteins for transport in circulation.
http://purl.obolibrary.org/obo/MONDO_1012764	primary open angle glaucoma, ADAMTS17-related, dog	http://purl.obolibrary.org/obo/MONDO_1012498	primary open angle glaucoma, dog		Any primary open angle glaucoma that occurs in dogs due to a mutation in the ADAMTS17 gene.
http://purl.obolibrary.org/obo/MONDO_1012766	dwarfism, GON4L-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism that occurs in cattle due to a mutation in the GON4L gene.
http://purl.obolibrary.org/obo/MONDO_1012773	cystinuria, SLC7A9-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012968	cystinuria, non-human animal		Any cystinuria that occurs in cats due to a mutation in the SLC7A9 gene.
http://purl.obolibrary.org/obo/MONDO_1012777	dwarfism, B4GALT7-related, horse	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism that occurs in horses due to a mutation in the B4GALT7 gene.
http://purl.obolibrary.org/obo/MONDO_1012778	epidermolysis bullosa simplex, PLEC-related, dog	http://purl.obolibrary.org/obo/MONDO_1011500	epidermolysis bullosa simplex, dog		Any epidermolysis bullosa simplex that occurs in dogs due to a mutation in the PLEC gene.
http://purl.obolibrary.org/obo/MONDO_1012779	epidermolysis bullosa simplex, KRT5-related, dog	http://purl.obolibrary.org/obo/MONDO_1011500	epidermolysis bullosa simplex, dog		Any epidermolysis bullosa simplex that occurs in dogs due to a mutation in the KRT5 gene.
http://purl.obolibrary.org/obo/MONDO_1012780	epidermolysis bullosa simplex, KRT5-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011499	epidermolysis bullosa simplex, cattle		Any epidermolysis bullosa simplex that occurs in cattle due to a mutation in the KRT5 gene.
http://purl.obolibrary.org/obo/MONDO_1012781	paroxysmal dyskinesia, PIGN-related, dog	http://purl.obolibrary.org/obo/MONDO_1010422	paroxysmal dyskinesia, dog		Any paroxysmal dyskinesia that occurs in dogs due to a mutation in the PIGN gene.
http://purl.obolibrary.org/obo/MONDO_1012793	oculocutaneous albinism, HPS5-related, three-spined stickleback	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in three-spined stickleback due to a mutation in the HPS5 gene.
http://purl.obolibrary.org/obo/MONDO_1012794	oculocutaneous albinism, HPS5-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in cats due to a mutation in the HPS5 gene.
http://purl.obolibrary.org/obo/MONDO_1012807	primary ciliary dyskinesia, NME5-related, dog	http://purl.obolibrary.org/obo/MONDO_1012138	primary ciliary dyskinesia, dog		Primary ciliary dyskinesia that occurs in dogs due to a mutation in the NME5 gene.
http://purl.obolibrary.org/obo/MONDO_1012808	congenital eye malformation, SIX6-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any inherited eye defect that occurs in dogs due to a mutation in the SIX6 gene.
http://purl.obolibrary.org/obo/MONDO_1012830	craniomandibular osteopathy, SLC37A2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012054	craniomandibular osteopathy, dog		Any craniomandibular osteopathy that occurs in dogs due to a mutation in the SLC37A2 gene.
http://purl.obolibrary.org/obo/MONDO_1012837	epidermolysis bullosa simplex, KRT14-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011428	epidermolysis bullosa simplex, non-human animal		Any epidermolysis bullosa simplex that occurs in cats due to a mutation in the KRT14 gene.
http://purl.obolibrary.org/obo/MONDO_1012847	cerebral dysgenesis, PEA15 related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Abnormal development of the telencephalon characterized by microcephaly and polymicrogyria that occurs in cats due to a mutation in the PEA15 gene.
http://purl.obolibrary.org/obo/MONDO_1012850	dilated cardiomyopathy, DMD-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1010452	dilated cardiomyopathy, rabbit		X-linked dilated cardiomyopathy that occurs in rabbits due to a mutation in the DMD gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012857	pituitary dwarfism, LHX3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012066	pituitary dwarfism, dog		Any pituitary dwarfism that occurs in dogs due to a mutation in the LHX3 gene.
http://purl.obolibrary.org/obo/MONDO_1012858	pituitary dwarfism, POU1F1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012066	pituitary dwarfism, dog		Any pituitary dwarfism that occurs in dogs due to a mutation in the POU1F1 gene.
http://purl.obolibrary.org/obo/MONDO_1012862	paroxysmal dyskinesia, SOD1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010422	paroxysmal dyskinesia, dog		Any paroxysmal dyskinesia that occurs in dogs due to a mutation in the SOD1 gene.
http://purl.obolibrary.org/obo/MONDO_1012863	epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010411	epilepsy, dog		A neurodegenerative brain disorder with mitochondrial dysfunction, amyloid-β accumulation, and lethal epilepsy that occurs in dogs due to a mutation in the PITRM1 gene.
http://purl.obolibrary.org/obo/MONDO_1012864	encephalopathy, ASPA-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012972	hereditary neurological disease, non-human animal		A spongy encephalopathy that occurs in cats due to a mutation in the ASPA gene.
http://purl.obolibrary.org/obo/MONDO_1012865	deafness, KLF7-related, dog	http://purl.obolibrary.org/obo/MONDO_1012970	inherited auditory system disease, non-human animal		Any hearing loss that occurs in dogs due to a mutation in the KLF7 gene.
http://purl.obolibrary.org/obo/MONDO_1012871	deafness, LOXHD1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012970	inherited auditory system disease, non-human animal		Any hearing loss that occurs in dogs due to a mutation in the LOXHD1 gene.
http://purl.obolibrary.org/obo/MONDO_1012872	primary ciliary dyskinesia, CCDC65-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011925	primary ciliary dyskinesia, non-human animal		Primary ciliary dyskinesia that occurs in sheep due to a mutation in the CCDC65 gene. Homozygous affected lambs suffer from respiratory defects predisposing infectious pneumonia with a fatal ending at a young age.
http://purl.obolibrary.org/obo/MONDO_1012874	deafness, OSBPL2-related, pig	http://purl.obolibrary.org/obo/MONDO_1012970	inherited auditory system disease, non-human animal		Any hearing loss and hypercholesterolaemia that occurs in pigs due to a mutation in the OSBPL2 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012877	dilated cardiomyopathy, RBM20-related, dog	http://purl.obolibrary.org/obo/MONDO_1010448	dilated cardiomyopathy, dog		Any dilated cardiomyopathy that occurs in dogs due to a mutation in the RBM20 gene.
http://purl.obolibrary.org/obo/MONDO_1012882	Charcot Marie Tooth disease, FGD4-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012964	Charcot-Marie-Tooth disease, non-human animal		Charcot-Marie-Tooth disease that occurs in cattle due to a mutation in the FGD4 gene.
http://purl.obolibrary.org/obo/MONDO_1012883	congenital disorder of glycosylation, GALNT2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012966	congenital disorder of glycosylation, non-human animal		Any congenital disorder of glycosylation that occurs in cattle due to a mutation in the GALNT2 gene.
http://purl.obolibrary.org/obo/MONDO_1012889	cleft lip, GADD45G-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1010034	cleft lip with or without cleft palate, non-human animal		Cleft lip that occurs in rabbits due to a mutation in the GADD45G gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012891	deafness, OTOF-related, sheep	http://purl.obolibrary.org/obo/MONDO_1012970	inherited auditory system disease, non-human animal		Any hearing loss that occurs in sheep due to a mutation in the OTOF gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012896	deafness, GJB2-related, pig	http://purl.obolibrary.org/obo/MONDO_1012970	inherited auditory system disease, non-human animal		Any hearing loss that occurs in pigs due to a mutation in the GJB2 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012904	fragile X syndrome, FMR1-related, white-tufted-ear marmoset	http://purl.obolibrary.org/obo/MONDO_1012972	hereditary neurological disease, non-human animal		Any hereditary neurological disease that occurs in white-tufted-ear marmoset due to a mutation in the FMR1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012906	congenital muscular dystrophy, LAMA2-related, dog	http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog		Any muscular dystrophy that occurs in dogs due to a mutation in the LAMA2 gene.
http://purl.obolibrary.org/obo/MONDO_1012908	cryopyrin-associated periodic syndrome, NLRP3-related, pig	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Spontaneous systemic inflammation signs and increased delayed hypersensitivity response that occurs in pigs due to a mutation in the NLRP3 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012909	dental-skeletal-retinal anomaly, MIA3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss that occurs in dogs due to a mutation in the MIA3 gene.
http://purl.obolibrary.org/obo/MONDO_1012925	encephalopathy, STXBP1-related, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1012972	hereditary neurological disease, non-human animal		Focal epilepsy that occurs in crab-eating macaque due to a mutation in the STXBP1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012931	chondrodysplasia, EVC2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Hereditary chondrodysplasia that occurs in cattle due to a mutation in the EVC2 gene.
http://purl.obolibrary.org/obo/MONDO_1012932	chondrodysplasia, UGDH-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011195	osteochondrodysplasia, domestic cat		Hereditary chondrodysplasia that occurs in cats due to a mutation in the UGDH gene.
http://purl.obolibrary.org/obo/MONDO_1012933	cleft primary palate, ESRP2-related, chicken	http://purl.obolibrary.org/obo/MONDO_1010525	cleft palate, chicken		Cleft palate that occurs in chickens due to a mutation in the ESRP2 gene.
http://purl.obolibrary.org/obo/MONDO_1012934	deafness, EPS8L2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012970	inherited auditory system disease, non-human animal		Any hearing loss that occurs in dogs due to a mutation in the EPS8L2 gene.
http://purl.obolibrary.org/obo/MONDO_1012940	deafness, CDH23-related, dog	http://purl.obolibrary.org/obo/MONDO_1012970	inherited auditory system disease, non-human animal		Any hearing loss that occurs in dogs due to a mutation in the CDH23 gene.
http://purl.obolibrary.org/obo/MONDO_1012941	cleft palate, MYH3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010530	cleft palate, cattle		Cleft palate that occurs in cattle due to a mutation in the MYH3 gene.
http://purl.obolibrary.org/obo/MONDO_1012943	dwarfism, ANKRD28-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism that occurs in cattle due to a mutation in the ANKRD28 gene.
http://purl.obolibrary.org/obo/MONDO_1012964	Charcot-Marie-Tooth disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Charcot-Marie-Tooth disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012966	congenital disorder of glycosylation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Congenital disorder of glycosylation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012968	cystinuria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Cystinuria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012969	hearing loss disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011318	hearing disorder, non-human animal		Hearing loss disorder that occurs in non-human animals
http://purl.obolibrary.org/obo/MONDO_1012970	inherited auditory system disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Inherited auditory system disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Disturbances in growth processes leading to reduced height in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Skeletal dysplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1030016	22q-related schwannomatosis	http://purl.obolibrary.org/obo/MONDO_0008075	schwannomatosis		A schwannomatosis that causes a predisposition to develop multiple schwannoma. It is diagnosed when an individual does not meet criteria for NF2-related schwannomatosis, SMARCB1-related schwannomatosis, or LTZR1-related schwannomatosis and both of the following molecular features exist: a loss of heterozygosity (LOH) of the same chromosome 22q markers in two anatomically distinct tumors or hybrid nerve sheath tumors and a different NF2 pathogenic variant in each tumor which cannot be detected in unaffected tissue.
http://purl.obolibrary.org/obo/MONDO_1040003	KCND2-related neurodevelopmental disorder with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the KCND2 gene. This disorder is characterized by early-onset global developmental delay with impaired motor, speech and cognitive development. Patients often present muscle hypotonia, and less frequently, developmental epileptic encephalopathy, visual impairment and physical dysmorphisms.
http://purl.obolibrary.org/obo/MONDO_1040005	PRPF19-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a mutation in the PRPF19 gene. This disorder is characterised by developmental, motor and speech delay, and facial dysmorphisms. Most patients present mild to moderate intellectual disability, autism spectrum disorder or autistic features, and hypotonia. Other phenotypes observed less frequently include seizures, and visual and cardiac abnormalities.
http://purl.obolibrary.org/obo/MONDO_1040006	CTR9-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a variation in the CTR9 gene. This disorder is characterised by varying degrees of intellectual disability, neurodevelopmental delay, hypotonia, fatigability, behavioral abnormalities including autism spectrum disorder, anxiety and aggressive behavior, cardiac anomalies, and mild facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_1040007	hemihydranencephaly	http://purl.obolibrary.org/obo/MONDO_0016344	hydranencephaly		A rare congenital brain disorder characterized by complete or almost near-complete unilateral absence of the cortical cortex, which is filled by a sac of cerebrospinal fluid. The presumed cause is a prenatal vascular disruption with occlusion of the carotid artery territories ipsilateral to the damaged brain.
http://purl.obolibrary.org/obo/MONDO_1040008	CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the CAMK2D gene. This disorder is characterised by intellectual disability, speech and motor delay, behavioural problems and dilated cardiomyopathy. Patients often present brain structural anomalies and hypotonia, and less frequently, seizures.
http://purl.obolibrary.org/obo/MONDO_1040014	PPFIA3-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy.
http://purl.obolibrary.org/obo/MONDO_1060139	GRIN2A-related complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_1060138	GRIN-related complex neurodevelopmental disorder		A group of neurological and neurodevelopmental disorders caused by variants in the GRIN2A gene, characterized by a broad spectrum of symptoms including developmental delay or intellectual disability, epilepsy, speech and language impairments, movement disorders, and neuropsychiatric features.
http://purl.obolibrary.org/obo/GO_0051705	obsolete multi-organism behavior	http://purl.obolibrary.org/obo/GO_0007610	behavior		Any process in which an organism has a behavioral effect on another organism of the same or different species.
http://purl.obolibrary.org/obo/SO_0001217	protein_coding_gene	http://purl.obolibrary.org/obo/SO_0000704	gene		A gene that codes for an RNA that can be translated into a protein.
http://purl.obolibrary.org/obo/ENVO_00000000	geographic feature	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		An astrononmical body part which delimited by physical discontinuities with its surroundings.
http://purl.obolibrary.org/obo/ENVO_00002261	forest soil	http://purl.obolibrary.org/obo/ENVO_00001998	soil		A portion of soil which is found in a forested area.
http://purl.obolibrary.org/obo/ENVO_00002264	waste material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process).
http://purl.obolibrary.org/obo/ENVO_00005750	grassland soil	http://purl.obolibrary.org/obo/ENVO_00001998	soil		A portion of soil which is found in a grassland.
http://purl.obolibrary.org/obo/ENVO_01000293	ice mass	http://purl.obolibrary.org/obo/ENVO_03000110	cryoform		A mass of water ice.
http://purl.obolibrary.org/obo/ENVO_01000317	aquatic environment	http://purl.obolibrary.org/obo/ENVO_01000998	environmental system determined by a material		An environment whose dynamics are strongly influenced by water.
http://purl.obolibrary.org/obo/ENVO_01000319	rocky slope	http://purl.obolibrary.org/obo/ENVO_00002000	slope		A rocky slope is a slope which has a surface primarily composed of rock.
http://purl.obolibrary.org/obo/ENVO_01000325	aquatic layer	http://purl.obolibrary.org/obo/ENVO_01001273	liquid layer		A layer in a water mass, itself composed primarily of water.
http://purl.obolibrary.org/obo/ENVO_01000408	environmental zone	http://purl.obolibrary.org/obo/BFO_0000024	fiat object part		A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein.
http://purl.obolibrary.org/obo/ENVO_01000617	lentic water body	http://purl.obolibrary.org/obo/ENVO_00000063	water body		A lentic water body is a water body in which the accumulated water, in its totality, has very little to no directed flow.
http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part	http://purl.obolibrary.org/obo/BFO_0000040	material entity		A material part of an astronomical body.
http://purl.obolibrary.org/obo/ENVO_01000814	solid environmental material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		An environmental material which is in a solid state.
http://purl.obolibrary.org/obo/ENVO_01000815	liquid environmental material	http://purl.obolibrary.org/obo/ENVO_02000140	fluid environmental material		An environmental material which is in a liquid state.
http://purl.obolibrary.org/obo/ENVO_01001305	vegetated area	http://purl.obolibrary.org/obo/ENVO_01001199	terrestrial environmental zone		A vegetated area is a geographic feature which has ground cover dominated by plant communities.
http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process	http://purl.obolibrary.org/obo/BFO_0000015	process		A process in which includes the components of an environmental system as participants.
http://purl.obolibrary.org/obo/ENVO_02500031	hydrological process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		An environmental process which has water - in any of its states - as a participant.
http://purl.obolibrary.org/obo/ENVO_09200000	temperature of environmental material	http://purl.obolibrary.org/obo/PATO_0000146	temperature		The temperature of some environmental material.
http://purl.obolibrary.org/obo/ENVO_09200001	temperature of air	http://purl.obolibrary.org/obo/ENVO_09200000	temperature of environmental material		The temperature of some air.
http://purl.obolibrary.org/obo/RO_0002577	system	http://purl.obolibrary.org/obo/BFO_0000040	material entity		A material entity consisting of multiple components that are causally integrated.
http://purl.obolibrary.org/obo/NBO_0000073	chewing	http://purl.obolibrary.org/obo/NBO_0000747	jaw movement		The act of repeated grinding, tearing, and or crushing with teeth or jaws [NBO:SMAC]
http://purl.obolibrary.org/obo/SO_0001263	ncRNA_gene	http://purl.obolibrary.org/obo/SO_0000704	gene		A gene that encodes a non-coding RNA.
http://purl.obolibrary.org/obo/SO_0001265	miRNA_gene	http://purl.obolibrary.org/obo/SO_0002342	sncRNA_gene		A small noncoding RNA of approximately 22 nucleotides in length which may be involved in regulation of gene expression.
http://purl.obolibrary.org/obo/SO_0001267	snoRNA_gene	http://purl.obolibrary.org/obo/SO_0002342	sncRNA_gene		A gene encoding a small noncoding RNA that participates in the processing or chemical modifications of many RNAs, including ribosomal RNAs and spliceosomal RNAs.
http://purl.obolibrary.org/obo/SO_0001272	tRNA_gene	http://purl.obolibrary.org/obo/SO_0002342	sncRNA_gene		A noncoding RNA that binds to a specific amino acid to allow that amino acid to be used by the ribosome during translation of RNA.
http://purl.obolibrary.org/obo/HP_0025337	Red eye	http://purl.obolibrary.org/obo/HP_0008047	Abnormality of the vasculature of the eye		A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.
http://purl.obolibrary.org/obo/HP_0025323	Abnormal arterial physiology	http://purl.obolibrary.org/obo/HP_0030163	Abnormal vascular physiology		An anomaly of arterial function.
http://purl.obolibrary.org/obo/HP_0025348	Abnormal corneal limbus morphology	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		An anomaly of the margin of the cornea overlapped by the sclera.
http://purl.obolibrary.org/obo/HP_0025349	Limbal edema	http://purl.obolibrary.org/obo/HP_0025348	Abnormal corneal limbus morphology		Swelling of the margin of the cornea overlapped by the sclera.
http://purl.obolibrary.org/obo/HP_0025354	Abnormal cellular phenotype	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		An anomaly of cellular morphology or physiology.
http://purl.obolibrary.org/obo/HP_0025370	Abnormal ossification of the sacrum	http://purl.obolibrary.org/obo/HP_0005107	Abnormal sacrum morphology		Abnormal bone tissue formation (ossification) affecting the sacrum.
http://purl.obolibrary.org/obo/FOODON_03307455	cow milk (raw)	http://purl.obolibrary.org/obo/FOODON_02020891	cow milk		Raw cow milk.
http://purl.obolibrary.org/obo/FOODON_03309823	shrimp paste	http://purl.obolibrary.org/obo/FOODON_00001054	fermented fish or seafood food product		Shrimp paste or shrimp sauce is a fermented condiment commonly used in Southeast Asian, Northeastern South Asian and Southern Chinese cuisines.
http://purl.obolibrary.org/obo/FOODON_03311126	food (raw)	http://purl.obolibrary.org/obo/FOODON_00002454	food material by characteristic		Food material which is raw.
http://purl.obolibrary.org/obo/FOODON_03315173	fish product (unspecified species)	http://purl.obolibrary.org/obo/FOODON_00001248	fish food product		A fish product is a home-made or commercially produced or retail or wholesale product containing substantial amounts of freshwater or saltwater fish and/or shellfish flesh. Note that this category should avoid items that mention a particular species of fish or shellfish.
http://purl.obolibrary.org/obo/FOODON_03400129	refined or partially-refined food product (us cfr)	http://purl.obolibrary.org/obo/FOODON_03401270	U.S. code of federal regulations, title 21 food product type		Extract, concentrate or isolate derived from a food source through one or more refining steps (see *EXTRACT, CONCENTRATE OR ISOLATE OF PLANT OR ANIMAL*) and marketed as such. [FDA CFSAN 1995]
http://purl.obolibrary.org/obo/FOODON_03400139	multicomponent meal (us cfr)	http://purl.obolibrary.org/obo/FOODON_03400172	prepared food product (us cfr)		A multiple-component food product typically containing a protein source, a vegetable, and a potato, rice or cereal-based component packaged to be served after heating, either as separate items or courses or mixed as recipe components; see 21 CFR 102.26, 102.28 and 104.47 for nutritional quality guidelines.
http://purl.obolibrary.org/obo/FOODON_03400148	milk or milk product (us cfr)	http://purl.obolibrary.org/obo/FOODON_03400164	dairy product (us cfr)		Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*.
http://purl.obolibrary.org/obo/FOODON_03400164	dairy product (us cfr)	http://purl.obolibrary.org/obo/FOODON_03401270	U.S. code of federal regulations, title 21 food product type		Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995]
http://purl.obolibrary.org/obo/FOODON_03400172	prepared food product (us cfr)	http://purl.obolibrary.org/obo/FOODON_03401270	U.S. code of federal regulations, title 21 food product type		Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. Prepared foods often undergo several of the processes listed in *F. EXTENT OF HEAT TREATMENT* and *H. TREATMENT APPLIED*; these factors should be carefully considered in indexing. The classification of prepared food products emphasizes consumption characteristics. [FDA CFSAN 1995]
http://purl.obolibrary.org/obo/FOODON_03400212	stew or hash (us cfr)	http://purl.obolibrary.org/obo/FOODON_03400172	prepared food product (us cfr)		Prepared dish consisting of a mixture of meat, poultry or seafood with one or more vegetables and possibly other ingredients. In contrast to soups, which are liquid or semiliquid, stews are thickened or have a larger proportion of solid ingredients.
http://purl.obolibrary.org/obo/FOODON_03400217	meat, poultry, seafood or related product (us cfr)	http://purl.obolibrary.org/obo/FOODON_03401270	U.S. code of federal regulations, title 21 food product type		Products of the flesh of animals. [FDA CFSAN 1995]
http://purl.obolibrary.org/obo/FOODON_03400229	beverage (us cfr)	http://purl.obolibrary.org/obo/FOODON_03401270	U.S. code of federal regulations, title 21 food product type		Alcoholic or nonalcoholic beverage; excludes milk and milk-based beverages, fruit juices and fruit juice drinks, and vegetable juices. [FDA CFSAN 1995]
http://purl.obolibrary.org/obo/FOODON_03400260	nut or nut product (us cfr)	http://purl.obolibrary.org/obo/FOODON_03400306	nut or seed product (us cfr)		Nuts in all forms, including nut butters and pastes.
http://purl.obolibrary.org/obo/FOODON_03400267	seafood or seafood product (us cfr)	http://purl.obolibrary.org/obo/FOODON_03400217	meat, poultry, seafood or related product (us cfr)		Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice.
http://purl.obolibrary.org/obo/FOODON_03411021	fish or lower water animal	http://purl.obolibrary.org/obo/FOODON_00003004	animal		An aquatic animal is an animal, either vertebrate or invertebrate, which lives in the water for most or all of its lifetime.
http://purl.obolibrary.org/obo/FOODON_03411041	chemical food component	http://purl.obolibrary.org/obo/FOODON_00001714	food material component		A food material which is a chemical or chemical mixture that exists in a food material or was added to a food material.
http://purl.obolibrary.org/obo/FOODON_03411134	mammal	http://purl.obolibrary.org/obo/FOODON_03411297	vertebrate animal		Mammals (from Latin mamma "breast") are vertebrate animals constituting the class Mammalia, and characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or hair, and three middle ear bones.
http://purl.obolibrary.org/obo/FOODON_03411201	dairy cow	http://purl.obolibrary.org/obo/FOODON_00002505	dairy cattle		A dairy cow is an adult female member of a dairy cattle breed
http://purl.obolibrary.org/obo/FOODON_03411222	fish species	http://purl.obolibrary.org/obo/FOODON_03411297	vertebrate animal		A gill-bearing aquatic craniate animal that lacks limbs with digits.
http://purl.obolibrary.org/obo/FOODON_03411237	shrimp	http://purl.obolibrary.org/obo/FOODON_02021462	shrimp material		A whole shrimp.
http://purl.obolibrary.org/obo/FOODON_03411297	vertebrate animal	http://purl.obolibrary.org/obo/FOODON_00003004	animal		A vertebrate animal is any species of organism within the subphylum Vertebrata (chordates with backbones). Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,276 species described.
http://purl.obolibrary.org/obo/FOODON_03411301	algae	http://purl.obolibrary.org/obo/FOODON_00001184	algae material		An informal term for a large, diverse group of photosynthetic eukaryotic organisms that are not necessarily closely related, and is thus polyphyletic.
http://purl.obolibrary.org/obo/FOODON_03411312	wheat plant	http://purl.obolibrary.org/obo/FOODON_03411324	grain plant		Wheat (*Triticum* spp.) is a domesticated grass from the Levant that is cultivated worldwide. Major cultivated species of wheat:

    * Common wheat or Bread wheat (*Triticum aestivum*) A hexaploid species that is the most widely cultivated in the world.

    * Durum (*Triticum durum*) The only tetraploid form of wheat widely used today, and the second most widely cultivated wheat.

    * Einkorn (*Triticum monococcum*) A diploid species with wild and cultivated variants. Domesticated at the same time as emmer wheat, but never reached the same importance.

    * Emmer (*Triticum dicoccon*) A tetraploid species, cultivated in ancient times but no longer in widespread use.

    * Spelt (*Triticum spelta*) Another hexaploid species cultivated in limited quantities.
http://purl.obolibrary.org/obo/FOODON_03411324	grain plant	http://purl.obolibrary.org/obo/FOODON_03411047	grain or seed-producing plant		Any grass cultivated (grown) for the edible components of its grain.
http://purl.obolibrary.org/obo/FOODON_03411374	crustacean	http://purl.obolibrary.org/obo/FOODON_03411433	shellfish species		Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean]
http://purl.obolibrary.org/obo/FOODON_03411433	shellfish species	http://purl.obolibrary.org/obo/FOODON_03411021	fish or lower water animal		The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates.
http://purl.obolibrary.org/obo/FOODON_03412112	mollusc	http://purl.obolibrary.org/obo/FOODON_03411433	shellfish species		Mollusca is a large phylum of invertebrate animals whose members are known as molluscs or mollusks. Molluscs are the largest marine phylum, comprising about 23% of all the named marine organisms. Numerous molluscs also live in freshwater and terrestrial habitats. [https://en.wikipedia.org/wiki/Mollusca]
http://purl.obolibrary.org/obo/FOODON_03412345	lichen	http://purl.obolibrary.org/obo/FOODON_03420116	organism material		A composite organism that arises from algae or cyanobacteria living among filaments of multiple fungi species in a mutualistic relationship.
http://purl.obolibrary.org/obo/FOODON_03412611	doe (goat)	http://purl.obolibrary.org/obo/NCBITaxon_9925	Capra hircus		A female goat
http://purl.obolibrary.org/obo/FOODON_03420113	mammalian milk or milk component	http://purl.obolibrary.org/obo/FOODON_03315150	mammalian milk product		A broad term that includes milk and its components, cream, curd and whey; use the appropriate specific term when milk or a milk product is the principal ingredient. Use the appropriate term under *MEAT ANIMAL* to index the source of the milk (note: 21 CFR 131.110 defines milk as cow's milk).
http://purl.obolibrary.org/obo/FOODON_03420122	nonmeat part of animal	http://purl.obolibrary.org/obo/FOODON_00004332	piece of animal		A piece of an animal which is not meat, namely a bone, feather, shell, skin or trim fat.
http://purl.obolibrary.org/obo/FOODON_03420148	root, stem, leaf or flower	http://purl.obolibrary.org/obo/FOODON_00004333	plant piece		The parts of a plant that are not fruit or seed.
http://purl.obolibrary.org/obo/FOODON_03420164	animal material	http://purl.obolibrary.org/obo/FOODON_03420116	organism material		Material that derives from one or more animals
http://purl.obolibrary.org/obo/FOODON_03420168	bone or shell	http://purl.obolibrary.org/obo/FOODON_03420122	nonmeat part of animal		Bone (endoskeleton) or shell (exoskeleton) of animals, or any part thereof.
http://purl.obolibrary.org/obo/FOODON_03420177	gluten	http://purl.obolibrary.org/obo/FOODON_00001907	gluten refined food product		Extract, concentrate or isolate high in gluten, the predominant protein of wheat or corn.
http://purl.obolibrary.org/obo/FOODON_03420194	egg or egg component	http://purl.obolibrary.org/obo/FOODON_02010001	animal substance		Poultry, game bird or turtle eggs.
http://purl.obolibrary.org/obo/FOODON_03420228	extract, concentrate or isolate of plant or animal	http://purl.obolibrary.org/obo/FOODON_00001714	food material component		A physical-chemical component separated from the food source or its parts by extraction, centrifugation, filtration, heat processing, expressing or a similar process. The separated component may be converted through further processing. If this is done, the final substance is indexed. A water-extracted component may remain in aqueous dispersion. The extract, concentrate or isolate is indexed in preference to the anatomic part from which it is derived. For example, peanut oil is indexed under *PEANUT* combined wih *FAT OR OIL* rather than with *SEED OR KERNEL*. On the other hand, fruit and vegetable juices can be indexed under *FRUIT JUICE OR NECTAR* or *VEGETABLE JUICE* (A. PRODUCT TYPE); therefore the anatomic part of the plant should be indexed.
http://purl.obolibrary.org/obo/FOODON_03420236	protein extract, concentrate or isolate	http://purl.obolibrary.org/obo/FOODON_03420228	extract, concentrate or isolate of plant or animal		Extract, concentrate or isolate high in protein; may contain amino acids, polypeptides and enzymes.
http://purl.obolibrary.org/obo/FOODON_03420237	floret or flower	http://purl.obolibrary.org/obo/FOODON_03420144	plant above surface, excluding fruit and seed		The pigmented blossom of a plant that contains the reproductive  organs; a floret is a single flower of a multiple flowered inflorescence. Also includes flower buds.
http://purl.obolibrary.org/obo/FOODON_03430102	food (liquid, high viscosity)	http://purl.obolibrary.org/obo/FOODON_03430130	food (liquid)		A liquid that flows slowly at room temperature.
http://purl.obolibrary.org/obo/FOODON_03430109	food (liquid, low viscosity)	http://purl.obolibrary.org/obo/FOODON_03430130	food (liquid)		A liquid that flows very easily at room temperature.
http://purl.obolibrary.org/obo/FOODON_03430130	food (liquid)	http://purl.obolibrary.org/obo/FOODON_00002454	food material by characteristic		A state of matter between a solid and a gas, in which a substance has the capacity to flow and conforms to the shape of the container.
http://purl.obolibrary.org/obo/FOODON_03430131	whole	http://purl.obolibrary.org/obo/FOODON_03430113	food physical quality		Refers to natural or formed shape as appropriate, regardless of size, which may vary from very large (e.g., beef carcass) to very small (e.g., poppy seed, yeast cell).
http://purl.obolibrary.org/obo/FOODON_03430151	food (solid)	http://purl.obolibrary.org/obo/FOODON_00002454	food material by characteristic		Food material which is a hard or soft material capable of retaining its own shape at room temperature.
http://purl.obolibrary.org/obo/FOODON_03460119	microbial/enzymatic modification process	http://purl.obolibrary.org/obo/FOODON_03460141	food modification process		A food modification process by microbial or enzymatic action which results in molecular changes in any food component.
http://purl.obolibrary.org/obo/FOODON_03460130	physical/chemical modification process	http://purl.obolibrary.org/obo/FOODON_03460141	food modification process		A food modification process where physical or chemical changes are effected in any food ingredient through a physical or non-enzymatic chemical process.
http://purl.obolibrary.org/obo/FOODON_00001579	alcoholic beverage	http://purl.obolibrary.org/obo/FOODON_00001094	fermented beverage		An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar.
http://purl.obolibrary.org/obo/FOODON_00001714	food material component	http://purl.obolibrary.org/obo/FOODON_00002403	food material		Food material which normally exists as an ingredient to another food material, rather than eaten on its own.  This includes chemical food components.
http://purl.obolibrary.org/obo/FOODON_00002239	shrimp food product	http://purl.obolibrary.org/obo/FOODON_02021462	shrimp material		A food product that is derived from some shrimp.
http://purl.obolibrary.org/obo/FOODON_00002373	food by meal type	http://purl.obolibrary.org/obo/FOODON_00002403	food material		A meal type is the name of an eating occasion that may have location, food type, or other customary contextual features. (Damion's 1st draft definition)
http://purl.obolibrary.org/obo/HP_0031263	Abnormal renal corpuscle morphology	http://purl.obolibrary.org/obo/HP_0012575	Abnormal nephron morphology		Any anomalous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.
http://purl.obolibrary.org/obo/HP_0031306	Intracranial arterial calcification	http://purl.obolibrary.org/obo/HP_0003207	Arterial calcification		An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).
http://purl.obolibrary.org/obo/HP_0031365	Macular purpura	http://purl.obolibrary.org/obo/HP_0000979	Purpura		Purpura that is flat (non-palpable, not raised).
http://purl.obolibrary.org/obo/HP_0031481	Abnormal mitral valve physiology	http://purl.obolibrary.org/obo/HP_0031650	Abnormal atrioventricular valve physiology		Any functional anomaly of the mitral valve.
http://purl.obolibrary.org/obo/MONDO_0021064	jugulotympanic paraganglioma	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.
http://purl.obolibrary.org/obo/MONDO_0021065	pleural neoplasm	http://purl.obolibrary.org/obo/MONDO_0020641	respiratory tract neoplasm		A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.
http://purl.obolibrary.org/obo/MONDO_0021067	mediastinal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0018201	extragonadal germ cell tumor		A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.
http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0045054	cancer-related condition		A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.
http://purl.obolibrary.org/obo/MONDO_0021077	cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm arising during childhood.
http://purl.obolibrary.org/obo/MONDO_0021086	gingival neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A benign or malignant neoplasm that affects the upper or lower gingiva.
http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0023370	neoplastic disease or syndrome		A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.
http://purl.obolibrary.org/obo/MONDO_0024235	Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0037254	transitional cell neoplasm		A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.
http://purl.obolibrary.org/obo/MONDO_0024247	benign eccrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021489	benign neoplasm of sweat gland		A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.
http://purl.obolibrary.org/obo/CHEBI_140325	secondary carboxamide	http://purl.obolibrary.org/obo/CHEBI_37622	carboxamide		A carboxamide resulting from the formal condensation of a carboxylic acid with a primary amine; formula RC(=O)NHR<small><sup>1</small></sup>.
http://purl.obolibrary.org/obo/FOODON_00002452	invertebrate animal	http://purl.obolibrary.org/obo/FOODON_00003004	animal		Invertebrates are animals that neither possess nor develop a vertebral column (commonly known as a backbone or spine), derived from the notochord. This includes all animals apart from the subphylum Vertebrata.
http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder	http://purl.obolibrary.org/obo/MONDO_0700003	obstetric disorder		A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.
http://purl.obolibrary.org/obo/HP_0031815	Abnormal oral physiology	http://purl.obolibrary.org/obo/HP_0000153	Abnormality of the mouth		A functional anomaly of the mouth (which is also known as the oral cavity).
http://purl.obolibrary.org/obo/MONDO_0043101	hypothalamic dysfunction	http://purl.obolibrary.org/obo/MONDO_0002150	hypothalamic disorder		Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.
http://purl.obolibrary.org/obo/MONDO_0100125	hallucinogen-persisting perception disorder	http://purl.obolibrary.org/obo/MONDO_0024417	perceptual disorders		A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.
http://purl.obolibrary.org/obo/MONDO_0100131	pediatric acute respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0006502	acute respiratory distress syndrome		Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.
http://purl.obolibrary.org/obo/MONDO_0100126	P5CS deficiency	http://purl.obolibrary.org/obo/MONDO_0017356	inborn disorder of ornithine metabolism		An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.
http://purl.obolibrary.org/obo/MONDO_0100124	NAA10-related syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.
http://purl.obolibrary.org/obo/MONDO_0100148	X-linked complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0100152	DKC1-related disorder	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.
http://purl.obolibrary.org/obo/MONDO_0030045	Liberfarb syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.
http://purl.obolibrary.org/obo/MONDO_0030073	Mitchell syndrome	http://purl.obolibrary.org/obo/MONDO_0100306	disorder of defective peroxisome oxidative status		A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has material basis in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
http://purl.obolibrary.org/obo/MONDO_0100129	intracranial arachoid cyst	http://purl.obolibrary.org/obo/MONDO_0008813	arachnoid cyst		A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.
http://purl.obolibrary.org/obo/MONDO_0100132	intrahepatic bile duct adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003549	adenosquamous bile duct carcinoma		An adenosquamous carcinoma that arises from the intrahepatic bile ducts.
http://purl.obolibrary.org/obo/MONDO_0100134	mitochondrial complex I deficiency, mitochondrial type	http://purl.obolibrary.org/obo/MONDO_0100133	mitochondrial complex I deficiency		Any mitochondrial complex I deficiency in which the cause of the disease is a mitochondrial mutation in the complex I subunit genes.
http://purl.obolibrary.org/obo/MONDO_0100138	X-linked recessive mitochondrial myopathy	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.
http://purl.obolibrary.org/obo/MONDO_0100144	Uner Tan Syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.
http://purl.obolibrary.org/obo/MONDO_0100156	Imerslund-Grasbeck syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009853	Imerslund-Grasbeck syndrome		An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.
http://purl.obolibrary.org/obo/MONDO_0100157	Imerslund-Grasbeck syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0009853	Imerslund-Grasbeck syndrome		An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).
http://purl.obolibrary.org/obo/MONDO_0100160	alcoholic ketoacidosis	http://purl.obolibrary.org/obo/MONDO_0006022	acidosis disorder		An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occurring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.
http://purl.obolibrary.org/obo/MONDO_0100161	hyperkalemic renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0001909	renal tubular acidosis		Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.
http://purl.obolibrary.org/obo/MONDO_0100163	COVID-19–associated multisystem inflammatory syndrome in children	http://purl.obolibrary.org/obo/MONDO_0035375	multisystem inflammatory syndrome in children and adults		A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.
http://purl.obolibrary.org/obo/MONDO_0100165	permanent neonatal diabetes mellitus 1	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.
http://purl.obolibrary.org/obo/MONDO_0100185	immune reconstitution inflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.
http://purl.obolibrary.org/obo/MONDO_0100193	chronic liver failure	http://purl.obolibrary.org/obo/MONDO_0100192	liver failure		Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.
http://purl.obolibrary.org/obo/MONDO_0100194	pregnancy associated osteoporosis	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.
http://purl.obolibrary.org/obo/MONDO_0100195	X-linked intellectual disability with hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.
http://purl.obolibrary.org/obo/MONDO_0100225	collagen 6-related myopathy	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.
http://purl.obolibrary.org/obo/MONDO_0100228	LAMA2-related muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.
http://purl.obolibrary.org/obo/MONDO_0100308	atactic disorder	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.
http://purl.obolibrary.org/obo/MONDO_0100342	malignant glioma	http://purl.obolibrary.org/obo/MONDO_0021042	glioma		A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.
http://purl.obolibrary.org/obo/MONDO_0600002	hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.
http://purl.obolibrary.org/obo/HP_0033796	Abnormal leukocyte physiology	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		A functional abnormality of a white blood cell.
http://purl.obolibrary.org/obo/HP_0033799	Abnormal circulating sex hormone concentration	http://purl.obolibrary.org/obo/HP_0003117	Abnormal circulating hormone concentration		Any deviation from the normal concentration of a sex hormone in the blood circulation
http://purl.obolibrary.org/obo/MONDO_0100311	sensory ataxia	http://purl.obolibrary.org/obo/MONDO_0100308	atactic disorder		Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.
http://purl.obolibrary.org/obo/PATO_0070044	anatomical structure quality	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components.
http://purl.obolibrary.org/obo/PATO_0070045	anatomical histological quality	http://purl.obolibrary.org/obo/PATO_0070044	anatomical structure quality		A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes.
http://purl.obolibrary.org/obo/MONDO_0700020	chromosome 13 disorder	http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly		Chromosomal disorder in which chromosome 13 is affected.
http://purl.obolibrary.org/obo/MONDO_0700036	fibrothecoma	http://purl.obolibrary.org/obo/MONDO_0006055	sex cord-stromal tumor		A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.
http://purl.obolibrary.org/obo/MONDO_0030608	interstitial lung disease 1	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		An interstitial lung disease in which the cause of the disease is a variation in the SFTPA1 gene.
http://purl.obolibrary.org/obo/MONDO_0030680	cardiomyopathy, dilated, 2F	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/MONDO_0030693	immunodeficiency 96	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.
http://purl.obolibrary.org/obo/MONDO_0030717	immunodeficiency 97 with autoinflammation	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.
http://purl.obolibrary.org/obo/MONDO_0030831	gastrointestinal defect and immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0009465	multiple intestinal atresia		A rare hereditary disease characterized by intestinal obstruction and profound combined immune deficiency.
http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		An instance of interstitial lung disease that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0031322	triopia	http://purl.obolibrary.org/obo/MONDO_0002285	pupil disorder		A craniofacial malformation with prosencephalic duplication; the presence of three eyes.
http://purl.obolibrary.org/obo/MONDO_0034556	vibratory angioedema	http://purl.obolibrary.org/obo/MONDO_0019624	acquired angioedema		Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.
http://purl.obolibrary.org/obo/MONDO_0034676	overgrowth syndrome with 2q37 translocation	http://purl.obolibrary.org/obo/MONDO_0019716	overgrowth syndrome		A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.
http://purl.obolibrary.org/obo/MONDO_0034895	congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.
http://purl.obolibrary.org/obo/MONDO_0034971	isolated congenital entropion	http://purl.obolibrary.org/obo/MONDO_0020159	congenital entropion		A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.
http://purl.obolibrary.org/obo/MONDO_0034978	isolated foveal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.
http://purl.obolibrary.org/obo/MONDO_0035018	frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.
http://purl.obolibrary.org/obo/MONDO_0035105	diaphragmatic hernia-short bowel-asplenia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.
http://purl.obolibrary.org/obo/MONDO_0035151	17q24.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016915	partial deletion of the long arm of chromosome 17		A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.
http://purl.obolibrary.org/obo/MONDO_0035153	male infertility due to acephalic spermatozoa	http://purl.obolibrary.org/obo/MONDO_0005372	male infertility		A male infertility disorder characterized by defective sperm morphology, specifically the absence of the sperm head which prevents natural or assisted fertilization.
http://purl.obolibrary.org/obo/MONDO_0035159	dermoid or epidermoid cyst of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.
http://purl.obolibrary.org/obo/MONDO_0035173	9q21.13 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016874	partial deletion of chromosome 9		A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.
http://purl.obolibrary.org/obo/MONDO_0035235	classic pyoderma gangrenosum	http://purl.obolibrary.org/obo/MONDO_0018824	pyoderma gangrenosum		A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.
http://purl.obolibrary.org/obo/MONDO_0035236	pustular pyoderma gangrenosum	http://purl.obolibrary.org/obo/MONDO_0018824	pyoderma gangrenosum		A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.
http://purl.obolibrary.org/obo/MONDO_0035237	bullous pyoderma gangrenosum	http://purl.obolibrary.org/obo/MONDO_0018824	pyoderma gangrenosum		A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.
http://purl.obolibrary.org/obo/MONDO_0035238	vegetative pyoderma gangrenosum	http://purl.obolibrary.org/obo/MONDO_0018824	pyoderma gangrenosum		A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.
http://purl.obolibrary.org/obo/MONDO_0035312	fibrohistiocytic inflammatory pseudotumor of the liver	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.
http://purl.obolibrary.org/obo/MONDO_0035313	lymphoplasmacytic inflammatory pseudotumor of the liver	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.
http://purl.obolibrary.org/obo/MONDO_0035320	early-onset familial hypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0018541	familial hypoaldosteronism		A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.
http://purl.obolibrary.org/obo/MONDO_0035321	late-onset familial hypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0018541	familial hypoaldosteronism		A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.
http://purl.obolibrary.org/obo/MONDO_0035400	seronegative autoimmune hepatitis	http://purl.obolibrary.org/obo/MONDO_0016264	autoimmune hepatitis		A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.
http://purl.obolibrary.org/obo/MONDO_0035423	primary triglyceride deposit cardiomyovasculopathy	http://purl.obolibrary.org/obo/MONDO_0979259	triglyceride deposit cardiomyovasculopathy		A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.
http://purl.obolibrary.org/obo/MONDO_0035437	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.
http://purl.obolibrary.org/obo/MONDO_0035441	congenital autosomal recessive small-platelet thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.
http://purl.obolibrary.org/obo/MONDO_0035444	acute mast cell leukemia	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.
http://purl.obolibrary.org/obo/MONDO_0035445	chronic mast cell leukemia	http://purl.obolibrary.org/obo/MONDO_0007950	mastocytosis		A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.
http://purl.obolibrary.org/obo/MONDO_0035447	liver adenomatosis	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.
http://purl.obolibrary.org/obo/MONDO_0035452	mueller-weiss syndrome	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.
http://purl.obolibrary.org/obo/MONDO_0035472	GJC2-related late-onset primary lymphedema	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
http://purl.obolibrary.org/obo/MONDO_0035473	warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.
http://purl.obolibrary.org/obo/MONDO_0035475	EPHB4-related lymphatic-related hydrops fetalis	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.
http://purl.obolibrary.org/obo/MONDO_0035499	CELSR1-related late-onset primary lymphedema	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.
http://purl.obolibrary.org/obo/MONDO_0035500	congenital primary lymphedema of Gordon	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.
http://purl.obolibrary.org/obo/MONDO_0035511	ricin poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0035534	DONSON-related microcephaly-short stature-limb abnormalities spectrum	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.
http://purl.obolibrary.org/obo/MONDO_0035540	pheochromocytoma-paraganglioma	http://purl.obolibrary.org/obo/MONDO_0021227	adrenal gland neoplasm		A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.
http://purl.obolibrary.org/obo/MONDO_0035551	cathepsin a-related arteriopathy-strokes-leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.
http://purl.obolibrary.org/obo/MONDO_0035584	punctate inner choroidopathy	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.
http://purl.obolibrary.org/obo/MONDO_0035614	sporadic fatal insomnia	http://purl.obolibrary.org/obo/MONDO_0018926	human prion disease		A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.
http://purl.obolibrary.org/obo/MONDO_0035651	choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.
http://purl.obolibrary.org/obo/MONDO_0035678	Timothy syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0021171	Timothy syndrome, classic type		Classical Timothy syndrome with cutaneous syndactyly.
http://purl.obolibrary.org/obo/MONDO_0035679	Timothy syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0021171	Timothy syndrome, classic type		Classical Timothy syndrome without cutaneous syndactyly.
http://purl.obolibrary.org/obo/MONDO_0035696	incomplete septal cirrhosis	http://purl.obolibrary.org/obo/MONDO_0035357	portosinusoidal vascular disease		A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.
http://purl.obolibrary.org/obo/MONDO_0035735	acquired hemophilia A	http://purl.obolibrary.org/obo/MONDO_0019139	acquired hemophilia		An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions.
http://purl.obolibrary.org/obo/MONDO_0035782	non-syndromic anorectal malformation with rectourethral fistula, bulbar type	http://purl.obolibrary.org/obo/MONDO_0019938	anorectal malformation		A congenital anorectal disorder characterized by an abnormal fistulous connection between the rectum and the bulbar urethra in males, occurring in isolation without associated syndromic anomalies.
http://purl.obolibrary.org/obo/MONDO_0035783	non-syndromic anorectal malformation with rectourethral fistula, prostatic type	http://purl.obolibrary.org/obo/MONDO_0019938	anorectal malformation		A congenital anorectal disorder characterized by the presence of a fistulous connection between the rectum and the prostatic urethra in the males, occuring in isolation without associated syndromic anomalies.
http://purl.obolibrary.org/obo/MONDO_0100459	azoospermia	http://purl.obolibrary.org/obo/MONDO_0005372	male infertility		A male infertility disease characterized by the absence of any measurable level of sperm in semen.
http://purl.obolibrary.org/obo/MONDO_0100487	TPM4-related platelet disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.
http://purl.obolibrary.org/obo/MONDO_0100488	CDH1-related diffuse gastric and lobular breast cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.
http://purl.obolibrary.org/obo/MONDO_0100491	generalized pustular psoriasis	http://purl.obolibrary.org/obo/MONDO_0022205	pustular psoriasis		A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.
http://purl.obolibrary.org/obo/MONDO_0700051	liver abscess (disease)	http://purl.obolibrary.org/obo/MONDO_0005227	abscess		An abscess that involves the liver.
http://purl.obolibrary.org/obo/MONDO_0700052	intersphincteric abscess	http://purl.obolibrary.org/obo/MONDO_0005227	abscess		An abscess contained between the internal and external anal sphincters.
http://purl.obolibrary.org/obo/MONDO_0800025	Teebi hypertelorism syndrome 1	http://purl.obolibrary.org/obo/MONDO_0030639	Teebi hypertelorism syndrome		A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.
http://purl.obolibrary.org/obo/MONDO_0800026	central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.
http://purl.obolibrary.org/obo/MONDO_0800027	leukoencephalopathy, diffuse hereditary, with spheroids 1	http://purl.obolibrary.org/obo/MONDO_0100632	CSF1R-related disorder		A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0800028	dyskinesia with orofacial involvement, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
http://purl.obolibrary.org/obo/MONDO_0800030	gastrointestinal defects and immunodeficiency syndrome 1	http://purl.obolibrary.org/obo/MONDO_0030831	gastrointestinal defect and immunodeficiency syndrome		A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
http://purl.obolibrary.org/obo/MONDO_0800032	MELAS syndrome caused by mutation in MTTL1	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.
http://purl.obolibrary.org/obo/MONDO_0800033	MELAS syndrome caused by mutation in MTTQ	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.
http://purl.obolibrary.org/obo/MONDO_0800034	MELAS syndrome caused by mutation in MTTH	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene.
http://purl.obolibrary.org/obo/MONDO_0800035	MELAS syndrome caused by mutation in MTTK	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene.
http://purl.obolibrary.org/obo/MONDO_0800036	MELAS syndrome caused by mutation in MTTC	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.
http://purl.obolibrary.org/obo/MONDO_0800037	MELAS syndrome caused by mutation in MTTS1	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.
http://purl.obolibrary.org/obo/MONDO_0800038	MELAS syndrome caused by mutation in MTND1	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.
http://purl.obolibrary.org/obo/MONDO_0800039	MELAS syndrome caused by mutation in MTND5	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.
http://purl.obolibrary.org/obo/MONDO_0800040	MELAS syndrome caused by mutation in MTND6	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.
http://purl.obolibrary.org/obo/MONDO_0800041	MELAS syndrome caused by mutation in MTTS2	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS syndrome		Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.
http://purl.obolibrary.org/obo/MONDO_8000023	type 3 autoimmune lymphoproliferative syndrome	http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome		A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_8000024	autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome		Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.
http://purl.obolibrary.org/obo/MONDO_0100043	epidermodysplasia verruciformis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing epidermodysplasia verruciformis.
http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.
http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing restless legs syndrome.
http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing Hirschsprung disease.
http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of encephalopathy that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing psoriasis.
http://purl.obolibrary.org/obo/MONDO_0100162	IKBKG-related immunodeficiency with or without ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).
http://purl.obolibrary.org/obo/MONDO_0800397	GRM6-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.
http://purl.obolibrary.org/obo/MONDO_0800407	NYX-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An X-linked retinopathy caused by variants in the NYX gene.
http://purl.obolibrary.org/obo/MONDO_0100049	narcolepsy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing narcolepsy.
http://purl.obolibrary.org/obo/MONDO_0100154	TUBB3-related tubulinopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features.
http://purl.obolibrary.org/obo/MONDO_0100178	dermatitis, atopic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing atopic dermatitis.
http://purl.obolibrary.org/obo/MONDO_0800391	EYS-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the EYS gene.
http://purl.obolibrary.org/obo/MONDO_0800395	PRPF31-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by variants in the PRPF31 gene.
http://purl.obolibrary.org/obo/MONDO_0800401	CERKL-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the CERKL gene.
http://purl.obolibrary.org/obo/MONDO_0100174	age related macular degeneration, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing age related macular degeneration.
http://purl.obolibrary.org/obo/MONDO_0800392	GNAT2-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.
http://purl.obolibrary.org/obo/MONDO_0800393	IDH3B-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.
http://purl.obolibrary.org/obo/MONDO_0800394	MERTK-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the MERTK gene.
http://purl.obolibrary.org/obo/MONDO_0800396	GPR179-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.
http://purl.obolibrary.org/obo/MONDO_0800398	ADAM9-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene.
http://purl.obolibrary.org/obo/MONDO_0800402	TRPM1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene.
http://purl.obolibrary.org/obo/MONDO_0800403	CNGB1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.
http://purl.obolibrary.org/obo/MONDO_0800404	PCARE-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the PCARE gene.
http://purl.obolibrary.org/obo/MONDO_0800405	CNGA1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.
http://purl.obolibrary.org/obo/MONDO_0100159	pulmonary hypertension, neonatal	http://purl.obolibrary.org/obo/MONDO_0005149	pulmonary hypertension		Abnormally high blood pressure in a newborn child.
http://purl.obolibrary.org/obo/MONDO_0800388	cardiac glycoside intoxication	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to cardiac glycoside.
http://purl.obolibrary.org/obo/MONDO_0100153	tubulinopathy	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.
http://purl.obolibrary.org/obo/MONDO_0100207	infantile-onset epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.
http://purl.obolibrary.org/obo/MONDO_0031028	developmental and epileptic encephalopathy 105 with hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.
http://purl.obolibrary.org/obo/HP_5200123	Abnormal response to social norms	http://purl.obolibrary.org/obo/HP_0025732	Abnormal social development		An atypical understanding or application of social rules and conventions that guide interpersonal behavior. This may include reduced awareness of social norms or rigid, context-insensitive adherence to them.
http://purl.obolibrary.org/obo/HP_5200263	Abnormally increased volition	http://purl.obolibrary.org/obo/HP_0025780	Abnormal volitional state		An excessive increase in motivated and goal directed as well as non-goal directed behaviors that are usually accompanied by elevated energy and interest that allows individuals to get started, be energized to perform a sustained and directed action. The increase is often disruptive and typically results in unfavorable consequences.
http://purl.obolibrary.org/obo/HP_0430114	Aplasia/hypoplasia of the uterine cervix	http://purl.obolibrary.org/obo/HP_0012888	Abnormal uterine cervix morphology		Congenital absence or underdevelopment of the uterine cervix.
http://purl.obolibrary.org/obo/MONDO_0700256	TREX1-related type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
http://purl.obolibrary.org/obo/MONDO_1060107	CYP7B1-related disorder of oxysterol accumulation	http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder		Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body.
http://purl.obolibrary.org/obo/MONDO_1060108	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.
http://purl.obolibrary.org/obo/MONDO_1010144	PLD1-related congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any congenital heart disease in which the cause of the disease is a mutation in the PLD1 gene.
http://purl.obolibrary.org/obo/MONDO_1010145	PIP5K1C-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a monoallelic gain-of-function variation in the PIP5K1C gene leading to increased levels of phosphatidylinositol 4,5 bisphosphate. This disorder is characterized by intellectual disability, motor and speech delay, microcephaly, seizures, visual and ocular abnormalities, and craniofacial dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_1060110	HDAC4-related haploinsufficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0859232	neurodevelopmental disorder with central hypotonia and dysmorphic facies		A disorder caused by haploinsufficiency of HDAC4 and is characterized by brachydactyly type E, variable mild to moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Individuals with the gain of functions variants typically do not have brachydactyly and do have more consistent intellectual disability.
http://purl.obolibrary.org/obo/MONDO_1060111	SAMD9L-related spectrum and myeloid neoplasm risk	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure.
http://purl.obolibrary.org/obo/MONDO_1060113	Lipschütz ulcer	http://purl.obolibrary.org/obo/MONDO_0001551	ulceration of vulva		A genital ulcer characterized by the rapid onset of painful, necrotic ulcerations of the vulva or lower vagina. It typically occurs in sexually inactive adolescent females or young females and may be preceded by influenza-like or mononucleosis-like symptoms. Acute genital ulceration has been associated with acute Epstein-Barr virus (EBV) infection or other viral and bacterial infections. However, in many cases a cause cannot be determined.
http://purl.obolibrary.org/obo/MONDO_1060117	MYCBP2-related developmental delay with corpus callosum defects	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a mutation in the MYCBP2 gene. This condition is characterized by variable corpus callosum defects consistent with dysgenesis, and a broad spectrum of neurobehavioural deficits including developmental delay, intellectual disability, epilepsy, and autistic features.
http://purl.obolibrary.org/obo/MONDO_0100613	BMP4-related ocular growth disorder	http://purl.obolibrary.org/obo/MONDO_0100581	ocular growth disorder		Any ocular growth disorder in which the cause of the disease is a mutation in the BMP4 gene.
http://purl.obolibrary.org/obo/MONDO_0100581	ocular growth disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		An eye disorder characterized by an aberrant development of the eye resulting in significant shortening or elongation, and therefore affecting the final ocular dimensions.
http://purl.obolibrary.org/obo/MONDO_1060173	FLNB-associated autosomal dominant filamin related bone disorder	http://purl.obolibrary.org/obo/MONDO_0019690	filamin-related bone disorder		Any autosomal dominant filamin related bone disorder in which the cause of the disease is a variation in FLNB gene.
http://purl.obolibrary.org/obo/MONDO_1040064	CRX-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a variant in the CRX gene.
http://purl.obolibrary.org/obo/MONDO_1060172	FAM111A-related skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Any skeletal dysplasia in which the cause of the disease is a variation in FAM111A gene.
http://purl.obolibrary.org/obo/MONDO_1010154	adult hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia		Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.
http://purl.obolibrary.org/obo/MONDO_1060165	ELANE-related neutropenia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any neutropenia in which the cause of the disease is a mutation in the ELANE gene.
http://purl.obolibrary.org/obo/MONDO_0800497	interstitial lung disease 2	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		An interstitial lung disease in which the cause of the disease is a variation in the SFTPA2 gene.
http://purl.obolibrary.org/obo/MONDO_0800504	idiopathic pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.
http://purl.obolibrary.org/obo/MONDO_1060161	inherited distal renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		A form of distal renal tubular acidosis that is inherited.
http://purl.obolibrary.org/obo/MONDO_0700378	WDPCP-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the WDPCP gene, including cases diagnosed as Bardet-Biedl syndrome 15 or congenital heart defects, hamartomas of tongue, and polysyndactyly.
http://purl.obolibrary.org/obo/MONDO_1060159	complex movement disorder with or without neurodevelopmental features	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		A movement disorder characterized by having one or more different types of movement disorders, such as abnormal muscle tone, abnormal degree of movement, dystonia or torsion, which may occur with or without neurodevelopmental features, such as developmental delay or intellectual disability.
http://purl.obolibrary.org/obo/MONDO_1010169	infantile hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia		Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
http://purl.obolibrary.org/obo/MONDO_1010168	childhood hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia		Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.
http://purl.obolibrary.org/obo/MONDO_1040068	MKS1-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the MKS1 gene.
http://purl.obolibrary.org/obo/MONDO_1060136	PIK3R1-related immunodeficiency and SHORT syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A group of disorders caused by a variation in PIK3R1 gene that produces a structurally altered but present p85α protein, disrupting PI3K signaling and leading to features such as immune deficiency, autoimmunity, short stature, and distinct facial and skeletal features.
http://purl.obolibrary.org/obo/MONDO_1040039	OFD1-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia.
http://purl.obolibrary.org/obo/MONDO_0700377	NDP-related vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0020246	inherited vitreoretinopathy		Any vitreoretinopathy caused by a variant in the NDP gene, including cases diagnosed as Norrie disease or X-linked exudative vitreoretinopathy 2.
http://purl.obolibrary.org/obo/MONDO_1040065	ARL6-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the ARL6 gene.
http://purl.obolibrary.org/obo/MONDO_0700376	GUCA1A-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a variant in the GUCA1A gene, including cases diagnosed as cone dystrophy 3 or cone-rod dystrophy 14.
http://purl.obolibrary.org/obo/MONDO_1040070	SPATA7-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the SPATA7 gene.
http://purl.obolibrary.org/obo/MONDO_1060149	ACAN-related short stature spectrum	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type.
http://purl.obolibrary.org/obo/MONDO_0700380	RHO-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a variant in the RHO gene, including cases diagnosed as congenital stationary night blindness autosomal dominant 1 or retinitis pigmentosa 4.
http://purl.obolibrary.org/obo/MONDO_0700349	ACTN2-related cardiac and skeletal myopathy	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase.
http://purl.obolibrary.org/obo/MONDO_0700289	combined immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		A combined immunodeficiency in which other clinical features are present in other organ systems in addition to immunodeficiency.
http://purl.obolibrary.org/obo/MONDO_0700379	SDCCAG8-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the SDCCAG8 gene, including cases diagnosed as Bardet-Biedl syndrome 16 or Senior-Loken syndrome 7.
http://purl.obolibrary.org/obo/MONDO_0700375	CDHR1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the CDHR1 gene, including cases diagnosed as cone-rod dystrophy 15, retinal macular dystrophy, or retinitis pigmentosa 65.
http://purl.obolibrary.org/obo/MONDO_0700350	GRIN2B-related complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_1060138	GRIN-related complex neurodevelopmental disorder		A complex neurodevelopmental disorder caused by a variation in the GRIN2B gene
http://purl.obolibrary.org/obo/MONDO_1010150	COL4A1/A2-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene.
http://purl.obolibrary.org/obo/MONDO_0700372	AFG3L2-related optic atrophy and/or spastic ataxia spectrum	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		Any disorder caused by a heterozygous variant or biallelic variants in the AFG3L2 gene and characterized by a spectrum of phenotypes including optic atrophy and/or spastic ataxia.
http://purl.obolibrary.org/obo/MONDO_0700374	CFAP418-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the CFAP418 gene, including cases diagnosed as Bardet-Biedl syndrome 21, cone-rod dystrophy 16, or retinitis pigmentosa 64.
http://purl.obolibrary.org/obo/MONDO_1060150	NOTCH1-related AOS spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A disease characterized by a spectrum of cardiac and extracardiac phenotypes caused by a disease-causing variant in the NOTCH1 gene, inherited in an autosomal dominant manner. Affected individuals may present with congenital heart defects, bicuspid aortic valve, aortic valve stenosis, thoracic aortic aneurysm or dissection, anomalies in brain structure, intracranial or posterior circulation vascular anomalies, cutaneous vascular malformations, cutis marmorata, and/or a phenotype compatible with Adams-Oliver syndrome (i.e. cutis aplasia, terminal limb defects, skull ossification defects).
http://purl.obolibrary.org/obo/MONDO_1060120	ACO2-related optic atrophy with or without extraocular features	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration.
http://purl.obolibrary.org/obo/MONDO_1060138	GRIN-related complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved.
http://purl.obolibrary.org/obo/MONDO_1040066	REEP6-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the REEP6 gene.
http://purl.obolibrary.org/obo/MONDO_0700371	severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.
http://purl.obolibrary.org/obo/MONDO_1060178	pediatric acute-onset neuropsychiatric syndrome	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		An autoimmune disorder that involves a constellation of psychiatric and neurologic symptoms that present simultaneously and in rapid onset, the cause or causes of which are unknown. Although the cause is still under investigation, the manifestations may follow a recent infection.
http://purl.obolibrary.org/obo/MONDO_0100632	CSF1R-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any disease in which the cause of the disease is a variation in the CSF1R gene.
http://purl.obolibrary.org/obo/MONDO_1060154	INTU-related skeletal ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		A skeletal ciliopathy caused by a mutation in INTU gene and is characterized by facial dysmorphism, tongue nodules, developmental delay, and polydactyly. Some individuals may also present with short stature, or other variable syndromic findings.
http://purl.obolibrary.org/obo/MONDO_0700306	FASLG-related immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An immunodeficiency disease in which the cause of the disease is a variation in the FASLG gene.
http://purl.obolibrary.org/obo/MONDO_0700308	TNFRSF9-related immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An immunodeficiency disease in which the cause of the disease is a variation in the TNFRSF9 gene.
http://purl.obolibrary.org/obo/MONDO_0700311	DNAJC21-related Shwachman Diamond syndrome	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A Shwachman Diamond syndrome in which the cause of the disease is a variation in the DNAJC21 gene.
http://purl.obolibrary.org/obo/MONDO_0700327	IRF4-related immune disorder	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An immune disorder in which the cause of the disease is a variation in the interferon activation domain of the IRF4 gene.
http://purl.obolibrary.org/obo/MONDO_0700333	TREX1-related autosomal dominant Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0009165	Aicardi-Goutieres syndrome 1		Autosomal dominant form of Aicardi-Goutieres syndrome 1.
http://purl.obolibrary.org/obo/MONDO_0700345	TMEM127-related tumor predisposition	http://purl.obolibrary.org/obo/MONDO_0017366	hereditary pheochromocytoma-paraganglioma		An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the TMEM127 gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0700346	MAX-related tumor predisposition	http://purl.obolibrary.org/obo/MONDO_0017366	hereditary pheochromocytoma-paraganglioma		An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the MAX gene, characterized by an increased risk of pheochromocytoma and paraganglioma.
http://purl.obolibrary.org/obo/MONDO_0700347	SDHC-related Mitochondrial Disease	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		Mitochondrial complex II deficiency due to pathogenic variants in the SDHC gene, resulting in a variety of clinical manifestations, including neurological and muscular symptoms.
http://purl.obolibrary.org/obo/MONDO_0700348	BMPR1A-related juvenile polyposis syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		An autosomal dominant disorder caused by pathogenic variants in the BMPR1A gene characterized by gastrointestinal juvenile polyps and a predisposition to gastrointestinal cancer.
http://purl.obolibrary.org/obo/MONDO_0700351	argyrophilic grain disease	http://purl.obolibrary.org/obo/MONDO_0005574	tauopathy		A tauopathy characterized pathologically by the presence of silver stain positive lesions called argyrophilic grains, oligodendrocytic coiled bodies, and neuronal tau-positive pretangles.
http://purl.obolibrary.org/obo/MONDO_0700352	ACTC1-related distal arthrogryposis with congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A distal arthrogryposis caused by variation in the ACTC1 gene. This disease is characterised by multiple congenital contractures, neck pterygia, scoliosis, congenital heart defects, and/or cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0700353	CNOT9-related developmental disorder with seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the CNOT9 gene. This disorder is characterised by moderate-to-severe intellectual disability, delayed or absent speech development, delayed motor development. Most patients present seizures, muscular hypotonia, facial dysmorphism, and behavioral abnormalities.
http://purl.obolibrary.org/obo/MONDO_0700354	HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0800439	syndromic complex neurodevelopmental disorder		A complex malformation syndrome caused by variation in the HMGB1 gene. This disorder is characterised by brachydactyly, brachyphalangy of fingers, tibia aplasia or hypoplasia, polydactyly, and contractures of large joints. Patients also present microcephaly, malformed ears, and blepharophimosis. Most patients present developmental delay, hearing impairment, and genitourinary anomalies.
http://purl.obolibrary.org/obo/MONDO_0700355	ATXN7L3-related developmental delay, hypotonia and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the ATXN7L3 gene. This disorder is characterised by global motor and language developmental delay, hypotonia, and distinct craniofacial features. Other phenotypes observed less frequently include feeding difficulties, seizures, brain MRI abnormalities, and structural cardiac abnormalities
http://purl.obolibrary.org/obo/MONDO_0700356	DIP2C-related developmental disorder with speech delay	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the DIP2C gene. This disorder is characterised by developmental delay primarily affect expressive language and speech articulation. Other variable and non-specific phenotypic features include behavioural abnormalities, variable facial anomalies, hypotonia, and structural cardiac anomalies.
http://purl.obolibrary.org/obo/MONDO_0700357	EPB41L3-related developmental disorder with delayed myelination and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the EPB41L3 gene. This disorder is characterised by global developmental delay, mild to moderate intellectual disability, early-onset seizures, and delayed myelination. Additional brain MRI abnormalities include thin corpus callosum, mild cerebellar atrophy, hyperintensities in the posterior limb of internal capsule and pyramidal tract. Other phenotypic features commonly reported include dystonia, strabismus, spasticity, tremors, and autistic features.
http://purl.obolibrary.org/obo/MONDO_0700358	GABRA4-related neurodevelopmental disorder with seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the GABRA4 gene. This disorder is characterised by developmental delay, epileptiform EEG abnormalities, and autism spectrum disorder, and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include seizures, brain MRI abnormalities, and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0700359	GABRD-related neurodevelopmental disorder with epilepsy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the GABRD gene. This disorder is characterised by developmental delay, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures, intellectual disability, and behavioural abnormalities.
http://purl.obolibrary.org/obo/MONDO_0700360	KCNK3-related developmental delay with sleep apnea	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the KCNK3 gene. This disorder is characterised by global developmental delay, central and/or obstructive sleep apnea. hypotonia, and feeding difficulties. Most patients also present structural malformations, including microcephaly, arthrogryposis/flexion contractures, scoliosis, cleft palate and bilateral talipes, with some facial dysmorphology, and ambiguous genitalia in male probands.
http://purl.obolibrary.org/obo/MONDO_0700361	RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the RFX3 gene. This disorder is characterised by global developmental delay, intellectual disability, and behavioural abnormalities. Most patients present autism spectrum disorder and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include sleep difficulties, micro or macrocephaly, non-specific and non-recurrent dysmorphisms, and brain MRI abnormalities.
http://purl.obolibrary.org/obo/MONDO_0700362	RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the RFX4 gene. This disorder is characterised by global developmental delay and/or intellectual disability, and behavioural abnormalities including documented autism spectrum disorder.
http://purl.obolibrary.org/obo/MONDO_0700363	KDM2B-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the KDM2B gene. This disorder is characterised by speech delay, developmental delay, learning difficulties, and/or intellectual disability. Patients often present behavioral abnormalities including including autism and attention deficit hyperactivity disorder. Other phenotypic features commonly reported include heart defects, unilateral kidney agenesis, ophthalmological anomalies, broad nasal tip, large ear lobes, and exaggerated Cupid’s bow.
http://purl.obolibrary.org/obo/MONDO_0700364	TRA2B-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the TRA2B gene. This disorder is characterised by intellectual disability and/or developmental delay, with delayed or absent speech and delayed motor development. Most patients present axial or global hypotonia in the neonatal to infancy period, and brain MRI abnormalities. Other phenotypic features commonly reported include infantile spasms, microcephaly, variable behavioral abnormalities, feeding difficulties, and short stature.
http://purl.obolibrary.org/obo/MONDO_0700365	WDR5-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the WDR5 gene. This disorder is characterised by speech and language delay, motor development delay and/or intellectual disability. Other phenotypic features commonly reported include hypotonia, epilepsy, and behavioural abnormalities.
http://purl.obolibrary.org/obo/MONDO_0700366	ARF3-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the ARF3 gene. This disorder is characterised by intellectual disability, delayed or absent speech, motor development delay, and brain MRI abnormalitites. Other phenotypes observed less frequently include seizures, hypotonia, acquired microcephaly, dysmorphic features, and cardiac abnormalities.
http://purl.obolibrary.org/obo/MONDO_0700367	CBX1-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the CBX1 gene. This disorder is characterised by global motor and language developmental delay, intellectual disability, hypotonia, autism spectrum disorder, and variable dysmorphic features.
http://purl.obolibrary.org/obo/MONDO_0700368	DDX17-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the DDX17 gene. This disorder is characterised by global developmental, motor, language and speech delay, and intellectual disability. Other phenotypic features commonly reported include hypotonia, dysmorphic facial features, behavioural abnormalities, mainly attention deficit hyperactivity disorder, and brain MRI abnormalities.
http://purl.obolibrary.org/obo/MONDO_0700369	FEZF2-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the FEZF2 gene. This disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, and/or attention deficit hyperactivity disorder.
http://purl.obolibrary.org/obo/MONDO_0700370	HDAC3-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the HDAC3 gene. This disorder is characterised by intellectual disability and neurodevelopmental delay. Phenotypes commonly reported include musculoskeletal abnormalities, abnormalities of the genitourinary system, and brain imaging abnormalities. Other phenotypes observed less frequently include microcephaly, hearing impairments, congenital heart disease, and autistic behavior.
http://purl.obolibrary.org/obo/MONDO_1060171	diffuse midline glioma, H3 K27-altered	http://purl.obolibrary.org/obo/MONDO_0006033	diffuse intrinsic pontine glioma		A diffuse midline glioma characterized by H3 K27 alteration and usually either a histone H3 K27M mutation, an EGFR mutation, or aberrant overexpression of EZHIP. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0975896	fibrotic hypersensitivity pneumonitis	http://purl.obolibrary.org/obo/MONDO_0017853	hypersensitivity pneumonitis		A chronic, progressive lung disease characterized by inflammation and scarring (fibrosis) of the lung tissue, caused by an immune response to inhaled antigens.
http://purl.obolibrary.org/obo/MONDO_1010148	benign skeletal muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0002848	skeletal muscle neoplasm		A benign mesenchymal neoplasm arising from skeletal muscle tissue.
http://purl.obolibrary.org/obo/MONDO_1010151	gallbladder disease 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing hereditary gallbladder disease in which the cause of the disease is a variation in the ABCG8 gene.
http://purl.obolibrary.org/obo/MONDO_1010152	autosomal dominant nebulin-related myopathy	http://purl.obolibrary.org/obo/MONDO_0002921	congenital structural myopathy		Any myopathy in which an autosomal dominantly inherited genetic variation in the NEB gene causes disease via a dominant-negative mechanism. Symptoms reported in patients include distal muscle weakness, hypotonia, muscle fiber atrophy, foot drop, high arched palate, feeding difficulties, and type 1 fiber predominance.
http://purl.obolibrary.org/obo/MONDO_1010173	IRF4-related combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0700327	IRF4-related immune disorder		A combined immunodeficiency in which the cause of the disease is a variation in the IRF4 gene.
http://purl.obolibrary.org/obo/MONDO_1010174	NFATC1-related combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		A combined immunodeficiency in which the cause of the disease is a variation in the NFATC1 gene.
http://purl.obolibrary.org/obo/MONDO_1010175	POLD2-related combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0800145	non-severe combined immunodeficiency due to polymerase delta deficiency		A non-severe combined immunodeficiency due to polymerase delta deficiency in which the cause of the disease is a variation in the POLD2 gene.
http://purl.obolibrary.org/obo/MONDO_1010176	POLD3-related combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		A combined immunodeficiency in which the cause of the disease is a variation in the POLD3 gene.
http://purl.obolibrary.org/obo/MONDO_1010177	IKZF2-related combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0700289	combined immunodeficiency syndrome		A combined immunodeficiency syndrome in which the cause of the disease is a variation in the IKZF2 gene.
http://purl.obolibrary.org/obo/MONDO_1010178	CHD7-related CHARGE syndrome	http://purl.obolibrary.org/obo/MONDO_0008965	CHARGE syndrome		A CHARGE syndrome in which the cause of the disease is a variation in the CHD7 gene.
http://purl.obolibrary.org/obo/MONDO_1010179	type 5 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0005015	diabetes mellitus		Any diabetes mellitus caused by an inability of the pancreas to produce enough insulin due to underdeveloped pancreatic tissue resulting from prolonged undernutrition.
http://purl.obolibrary.org/obo/MONDO_1060121	adenoacanthoma	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		An invasive adenocarcinoma characterized by the presence of focal or extensive transformation of malignant glandular cells to squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_1060122	ALG8-related autosomal dominant polycystic kidney and/or liver disease	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		An autosomal dominant disease caused by variants in the ALG8 gene that is characterized by incomplete penetrance and a range of clinical manifestations, spanning from individuals with normal kidneys to those with numerous kidney cysts and chronic kidney disease (CKD). While the common presentation involves a limited number of kidney cysts and maintained kidney function, severe polycystic liver disease (PLD) with minimal kidney involvement (ADPLD) can also occur.
http://purl.obolibrary.org/obo/MONDO_1060125	congenital high airway obstruction syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		A rare, life-threatening fetal condition resulting complete or partial obstruction of the fetal upper airways. Laryngeal atresia is the most frequent cause, but other etiologies, such as laryngeal cyst, subglottic stenosis or atresia, tracheal atresia, and laryngeal or tracheal agenesis are also included.
http://purl.obolibrary.org/obo/MONDO_1060126	exogenous Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0018912	Cushing syndrome		A form of Cushing syndrome caused by prolonged exposure or excessive use of cortisteroids, usually from medications taken to treat other conditions.
http://purl.obolibrary.org/obo/MONDO_1060132	ARHGAP29-related non-syndromic orofacial cleft	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		Any orofacial cleft in which the cause of the disease is a mutation in the ARHGAP29 gene.
http://purl.obolibrary.org/obo/MONDO_1060134	atherosclerotic cardiovascular disease	http://purl.obolibrary.org/obo/MONDO_0005311	atherosclerosis		Any cardiovascular disease resulting from atherosclerosis.
http://purl.obolibrary.org/obo/MONDO_1060141	GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome	http://purl.obolibrary.org/obo/MONDO_1060139	GRIN2A-related complex neurodevelopmental disorder		Any rolandic epilepsy-speech dyspraxia syndrome in which the cause of the disease is a variation in GRIN2A gene.
http://purl.obolibrary.org/obo/MONDO_1060142	GRIN2A-related self-limited epilepsy with centrotemporal spikes	http://purl.obolibrary.org/obo/MONDO_0007295	self-limited epilepsy with centrotemporal spikes		Any self-limited epilepsy with centrotemporal spikes in which the cause of the disease is a variation in GRIN2A gene.
http://purl.obolibrary.org/obo/MONDO_1060144	retinitis pigmentosa 7, digenic	http://purl.obolibrary.org/obo/MONDO_1040055	PRPH2-related retinopathy		A digenic form of retinitis pigmentosa resulting from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene, leading to progressive degeneration of the retina and vision loss.
http://purl.obolibrary.org/obo/MONDO_1060145	Leber congenital amaurosis 18	http://purl.obolibrary.org/obo/MONDO_1040055	PRPH2-related retinopathy		A Leber congenital amaurosis that is caused by a variation in the PRPH2 gene.
http://purl.obolibrary.org/obo/MONDO_1060146	FGFR1-related Pfeiffer syndrome	http://purl.obolibrary.org/obo/MONDO_0007043	Pfeiffer syndrome		Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR1 gene.
http://purl.obolibrary.org/obo/MONDO_1060147	FGFR2-related Pfeiffer syndrome	http://purl.obolibrary.org/obo/MONDO_0007043	Pfeiffer syndrome		Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR2 gene.
http://purl.obolibrary.org/obo/MONDO_1060148	empty nose syndrome	http://purl.obolibrary.org/obo/MONDO_0043543	iatrogenic disease		A rare iatrogenic disease characterized by paradoxical nasal obstruction and symptoms including air hunger and suffocation-like breathing sensation, nasal dryness and crusting, burning pain or cold airflow sensation, impaired sleep and cognitive function and severe anxiety and depression, and typically occurs after surgical reduction or removal of nasal turbinates.
http://purl.obolibrary.org/obo/MONDO_1060151	schizoaffective bipolar disorder	http://purl.obolibrary.org/obo/MONDO_0005487	schizoaffective disorder		A schizoaffective disorder marked by episodes of hypomania or mania and sometimes major depression.
http://purl.obolibrary.org/obo/MONDO_1060152	schizoaffective depressive disorder	http://purl.obolibrary.org/obo/MONDO_0005487	schizoaffective disorder		A schizoaffective disorder marked by episodes of only major depression.
http://purl.obolibrary.org/obo/MONDO_1060153	multiple symmetric lipomatosis with partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0007908	multiple symmetric lipomatosis		A form of multiple symmetric lipomatosis accompanied by partial lipodystrophy (loss of subcutaneous fat in other regions), with or without peripheral neuropathy. Nearly all reported cases have been observed in individuals who are homozygous for the p.Arg707Trp variant in the MFN2 gene.
http://purl.obolibrary.org/obo/MONDO_1060162	acquired distal renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0015827	distal renal tubular acidosis		A form of distal renal tular acidosis that develops secondary to another condition, usually disease or drug.
http://purl.obolibrary.org/obo/MONDO_1060166	giant cell hepatitis with autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0016264	autoimmune hepatitis		A rare autoimmune disease of early childhood, marked by the simultaneous or sequential immune attack on red blood cells and liver cells.
http://purl.obolibrary.org/obo/MONDO_1060169	HAVCR2-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the HAVCR2 gene, which confers the predisposition to susceptibility to subcutaneous panniculitis-like T-cell lymphoma (SPTCL) and hemophagocytic lymphohistiocytosis (HLH). Affected individuals typically present with multiple subcutaneous nodules and systemic B symptoms.
http://purl.obolibrary.org/obo/MONDO_1060174	systemic lupus erythematosus related to C1QA	http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus		Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1QA gene.
http://purl.obolibrary.org/obo/MONDO_1060176	systemic lupus erythematosus related to C1S	http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus		Any systemic lupus erythematosus in which the cause of the disease is a variation in the C1S gene.
http://purl.obolibrary.org/obo/MONDO_1060177	developmental and epileptic encephalopathy 119	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures.
http://purl.obolibrary.org/obo/MONDO_1060179	RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characterized by global developmental delay, hypotonia, macrocephaly, failure to thrive, abnormality of the eye, seizures, and joint laxity
http://purl.obolibrary.org/obo/MONDO_1060180	brain stem glioblastoma	http://purl.obolibrary.org/obo/MONDO_0002911	brain stem glioma		A glioblastoma localized in the brain stem.
http://purl.obolibrary.org/obo/MONDO_1060182	PCCA-related propionic acidemia	http://purl.obolibrary.org/obo/MONDO_0011628	propionic acidemia		Any propionic acidemia in which the cause of the disease is a variation in PCCA gene.
http://purl.obolibrary.org/obo/MONDO_1060183	PCCB-related propionic acidemia	http://purl.obolibrary.org/obo/MONDO_0011628	propionic acidemia		Any propionic acidemia in which the cause of the disease is a variation in PCCB gene.
http://purl.obolibrary.org/obo/MONDO_1060184	EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the EGLN12 gene, which confers a predisposition to erythrocytosis and pheochromocytoma/paraganglioma.
http://purl.obolibrary.org/obo/MONDO_1060185	systemic lupus erythematosus 18	http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus		Any systemic lupus erythematosus in which the cause of the disease is a variation in the PLD4 gene.
http://purl.obolibrary.org/obo/MONDO_7770001	equine juvenile spinocerebellar ataxia, FDXR-related, horse	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any spinocerebellar ataxia that occurs in horses due to a variation in the FDXR gene. EJSCA is a degenerative axonopathy characterized by acute onset of ataxia within the first month of life, affecting the pelvic limbs more severely than the thoracic limb and rapidly progressing to inability to stand.
http://purl.obolibrary.org/obo/MONDO_7770002	avoidant/restrictive food intake disorder	http://purl.obolibrary.org/obo/MONDO_0005451	eating disorder		An eating disorder characterized by avoidance or restriction of food intake due to one or more of the following: lack of interest in eating or food, sensitivity to sensory characteristics of food (such as taste, texture, smell, or appearance), or concern about aversive consequences of eating (such as choking or vomiting), resulting in persistent failure to meet appropriate nutritional and/or energy needs as manifested by significant weight loss, nutritional deficiency, dependence on enteral feeding or nutritional supplements, or marked interference with psychosocial functioning, and where the eating disturbance is not better explained by lack of available food, cultural or religious practices, another mental disorder, or a concurrent medical condition.
http://purl.obolibrary.org/obo/MONDO_0700328	podocytopathy	http://purl.obolibrary.org/obo/MONDO_0019722	glomerular disorder		A glomerular disorder caused by the structural or functional impairment of podocytes, which leads to proteinuria and often nephrotic syndrome.
http://purl.obolibrary.org/obo/MONDO_1013508	viral encephalitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Viral encephalitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1060223	RNU12-related minor spliceopathy disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any hereditary disease caused by a variation in the RNU12 gene, resulting in abnormal splicing of pre-mRNA via the minor spliceosome. The phenotypic spectrum includes craniosynostosis-anal anomalies-porokeratosis (CDAGS) syndrome and autosomal recessive spinocerebellar ataxia 33.
http://purl.obolibrary.org/obo/MONDO_1013566	coccidiosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025114	protozoan infections, animal		Coccidiosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Dermatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1060221	split cord malformation type II	http://purl.obolibrary.org/obo/MONDO_0009106	diastematomyelia		A rare subtype of split cord malformation characterized by both hemicords included in the same single dural sac. An intradural intervening mesenchymal septum may be present.
http://purl.obolibrary.org/obo/MONDO_7770016	disease of primarily extrinsic mechanism, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770014	disease by etiologic mechanism, non-human animal		Disease of primarily extrinsic mechanism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013729	epithelial neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Epithelial neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_7770012	disease by body system or component, non-human animal	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Disease by body system or component that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal		Brain disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Skin disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013090	lung disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Lung disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013398	respiratory tract infectious disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Respiratory tract infectious disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013124	liver cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Liver cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013144	lung neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013090	lung disorder, non-human animal		Lung neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013295	thyroid gland carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013156	thyroid cancer, non-human animal		Thyroid gland carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013133	oral cavity neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Oral cavity neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013268	squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		Squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013140	nerve sheath neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013139	peripheral nervous system neoplasm, non-human animal		Nerve sheath neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013150	skin neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Skin neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011330	lymphoid system disorder, non-human animal		Lymphatic system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013104	mycobacterial infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Mycobacterial infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013466	movement disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Movement disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Disease by developmental or physiological process that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013014	aortic valve stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013069	heart valve disorder, non-human animal		Aortic valve stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013079	hypertensive disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Hypertensive disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013099	mitral valve disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013069	heart valve disorder, non-human animal		Mitral valve disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013026	cerebrovascular disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Cerebrovascular disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013185	periodontal disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Periodontal disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013400	spinal cord disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal		Spinal cord disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013005	primary adrenal insufficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		Primary adrenal insufficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013584	hypothyroidism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		Hypothyroidism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Benign neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Central nervous system disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013629	neutropenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Neutropenia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013016	bone marrow disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Bone marrow disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_7770017	disease by molecular mechanism, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770013	disease by developmental or physiological process, non-human animal		Disease by molecular mechanism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013746	myositis disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Myositis disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1010205	southern tick-associated rash illness	http://purl.obolibrary.org/obo/MONDO_0025294	tick-borne infectious disease		A tick-borne infectious disease transmitted by the lone star tick, Amblyomma americanum, and causing an erythema migrans–like rash with or without mild constitutional symptoms.
http://purl.obolibrary.org/obo/MONDO_1010206	meningeal neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013251	central nervous system neoplasm, non-human animal		Meningeal neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013251	central nervous system neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal		Central nervous system neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013635	schwannoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013140	nerve sheath neoplasm, non-human animal		Schwannoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013389	tooth disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011333	mouth disorder, non-human animal		Tooth disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Bone neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013591	lymphangioma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Lymphangioma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013387	cerebellar disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Cerebellar disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013592	lymphedema, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Lymphedema that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013175	ovarian disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Ovarian disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Infertility disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013321	cystic kidney disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Cystic kidney disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013257	testicular disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Testicular disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013396	penile disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Penile disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013417	gonadal dysgenesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010276	hypogonadism, non-human animal		Gonadal dysgenesis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013749	rhinitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013394	nasal disorder, non-human animal		Rhinitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013394	nasal disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011342	otorhinolaryngologic disease, non-human animal		Nasal disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013617	spondylitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Spondylitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013736	arthritic joint disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013778	bone inflammation disease, non-human animal		Arthritic joint disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013618	synostosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Synostosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013388	corneal disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Corneal disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013038	cranial nerve neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Cranial nerve neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013470	anterior segment dysgenesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Anterior segment dysgenesis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013036	stromal corneal dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010320	corneal dystrophy, non-human animal		Stromal corneal dystrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013737	blindness (disorder), non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		Blindness (disorder) that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013600	obesity disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011338	nutritional disorder, non-human animal		Obesity disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_7770487	methemoglobinemia, dog	http://purl.obolibrary.org/obo/MONDO_1011412	methemoglobinemia, non-human animal		Methemoglobinemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770402	anencephaly/exencephaly, dog	http://purl.obolibrary.org/obo/MONDO_1011308	congenital nervous system disorder, non-human animal		Anencephaly/exencephaly that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770429	difference of sexual development, wolf	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Difference of sexual development that occurs in wolf.
http://purl.obolibrary.org/obo/MONDO_7770014	disease by etiologic mechanism, non-human animal	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Disease by etiologic mechanism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_7770015	disease of genetic or genomic mechanism, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770014	disease by etiologic mechanism, non-human animal		Disease of genetic or genomic mechanism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013738	conjunctivitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Conjunctivitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013111	adrenal gland cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Adrenal gland cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013318	pituitary gland adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Pituitary gland adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013010	aplastic anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Aplastic anemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013201	pure red-cell aplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Pure red-cell aplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013699	hemoglobinuria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Hemoglobinuria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013049	disorder of ear, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011342	otorhinolaryngologic disease, non-human animal		Disorder of ear that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013146	kidney neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Kidney neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_7770368	difference of sexual development, rabbit	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Difference of sexual development that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1013507	dental enamel hypoplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013389	tooth disorder, non-human animal		Dental enamel hypoplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013000	liver abscess (disease), non-human animal	http://purl.obolibrary.org/obo/MONDO_1013735	abscess, non-human animal		Liver abscess (disease) that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013735	abscess, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Abscess that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013001	splenic abscess, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013735	abscess, non-human animal		Splenic abscess that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013002	actinic keratosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013150	skin neoplasm, non-human animal		Actinic keratosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013003	acute lung injury, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013090	lung disorder, non-human animal		Acute lung injury that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013004	acute respiratory distress syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013204	respiratory failure, non-human animal		Acute respiratory distress syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013204	respiratory failure, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013090	lung disorder, non-human animal		Respiratory failure that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013006	acute adrenal insufficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013005	primary adrenal insufficiency, non-human animal		Acute adrenal insufficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013007	esophageal adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013286	carcinoma of esophagus, non-human animal		Esophageal adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013286	carcinoma of esophagus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013132	neoplasm of esophagus, non-human animal		Carcinoma of esophagus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013008	rectum adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013278	rectal carcinoma, non-human animal		Rectum adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013278	rectal carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013145	rectal neoplasm, non-human animal		Rectal carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013011	anemia due to chronic disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Anemia due to chronic disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013012	imperforate anus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Imperforate anus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013013	aortic aneurysm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Aortic aneurysm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013069	heart valve disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Heart valve disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013018	traumatic brain injury, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Traumatic brain injury that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013019	brain stem infarction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013025	stroke disorder, non-human animal		Brain stem infarction that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013025	stroke disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013026	cerebrovascular disorder, non-human animal		Stroke disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013021	cardiac tamponade, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013397	pericardial effusion, non-human animal		Cardiac tamponade that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013397	pericardial effusion, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Pericardial effusion that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013022	cardiac arrest, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Cardiac arrest that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013023	immature cataract, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Immature cataract that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013024	cerebral infarction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013025	stroke disorder, non-human animal		Cerebral infarction that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013027	cholesteatoma of middle ear, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013713	cholesteatoma, non-human animal		Cholesteatoma of middle ear that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013713	cholesteatoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012976	hyperkeratosis, non-human animal		Cholesteatoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013028	vitamin B12 deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700103	nutritional deficiency disease, non-human animal		Vitamin B12 deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013029	cold agglutinin disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011406	autoimmune hemolytic anemia, non-human animal		Cold agglutinin disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013030	eosinophilic colitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013646	colitis, non-human animal		Eosinophilic colitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013416	eosinophilic gastroenteritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013577	gastroenteritis, non-human animal		Eosinophilic gastroenteritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013646	colitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013577	gastroenteritis, non-human animal		Colitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013031	ulcerative colitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013646	colitis, non-human animal		Ulcerative colitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013032	compartment syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Compartment syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013033	cor pulmonale, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013391	congestive heart failure, non-human animal		Cor pulmonale that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013391	congestive heart failure, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013068	heart failure, non-human animal		Congestive heart failure that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013034	corneal degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013388	corneal disorder, non-human animal		Corneal degeneration that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013035	Chandler syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010320	corneal dystrophy, non-human animal		Chandler syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013037	coronary artery congenital malformation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Coronary artery congenital malformation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013039	cutaneous lupus erythematosus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Cutaneous lupus erythematosus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013040	chronic cystitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013570	cystitis, non-human animal		Chronic cystitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013570	cystitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		Cystitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013041	contact dermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Contact dermatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013042	seborrheic dermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Seborrheic dermatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013043	nasal dermoid cyst, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013390	dermoid cyst, non-human animal		Nasal dermoid cyst that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013390	dermoid cyst, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013627	teratoma, non-human animal		Dermoid cyst that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013044	dermoid cyst of skin, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013390	dermoid cyst, non-human animal		Dermoid cyst of skin that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013045	diabetic ketoacidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetic ketoacidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013046	nephrogenic diabetes insipidus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010051	diabetes insipidus, non-human animal		Nephrogenic diabetes insipidus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013047	discoid lupus erythematosus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013039	cutaneous lupus erythematosus, non-human animal		Discoid lupus erythematosus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013048	disseminated intravascular coagulation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		Disseminated intravascular coagulation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013050	ear infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Ear infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013051	hypertensive encephalopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013079	hypertensive disorder, non-human animal		Hypertensive encephalopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013052	bacterial endocarditis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Bacterial endocarditis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013741	endocarditis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Endocarditis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013053	eosinophilic granuloma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011436	histiocytosis, non-human animal		Eosinophilic granuloma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013054	ependymal tumor of brain, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013117	brain neoplasm, non-human animal		Ependymal tumor of brain that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013117	brain neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013251	central nervous system neoplasm, non-human animal		Brain neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013055	focal epilepsy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Focal epilepsy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013056	idiopathic generalized epilepsy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Idiopathic generalized epilepsy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013057	nodular episcleritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Nodular episcleritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013058	erythema multiforme, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Erythema multiforme that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013059	escherichia coli infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Escherichia coli infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013060	chronic gastritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013744	gastritis, non-human animal		Chronic gastritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013744	gastritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Gastritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013061	gastric mucosal hypertrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013744	gastritis, non-human animal		Gastric mucosal hypertrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013062	lymphocytic gastritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013744	gastritis, non-human animal		Lymphocytic gastritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013063	gastroesophageal reflux disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011364	upper digestive tract disorder, non-human animal		Gastroesophageal reflux disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013064	skin angiosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Skin angiosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013065	atrioventricular septal defect, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Atrioventricular septal defect that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013066	cor triatriatum sinister, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Cor triatriatum sinister that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013067	double outlet right ventricle, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Double outlet right ventricle that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013068	heart failure, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Heart failure that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013071	cirrhosis of liver, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012967	liver disorder, non-human animal		Cirrhosis of liver that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013072	acute liver failure, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013775	liver failure, non-human animal		Acute liver failure that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013775	liver failure, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012967	liver disorder, non-human animal		Liver failure that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013074	hiatus hernia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Hiatus hernia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013075	developmental dysplasia of the hip, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Developmental dysplasia of the hip that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013076	food allergy, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Food allergy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013077	chronic ulcer of skin, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Chronic ulcer of skin that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013078	allergic urticaria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010126	atopic dermatitis, non-human animal		Allergic urticaria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Inflammatory bowel disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013081	ethylene glycol poisoning, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011345	poisoning, non-human animal		Ethylene glycol poisoning that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013082	organophosphate poisoning, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011345	poisoning, non-human animal		Organophosphate poisoning that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013083	paraquat poisoning, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011345	poisoning, non-human animal		Paraquat poisoning that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013084	iron deficiency anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700103	nutritional deficiency disease, non-human animal		Iron deficiency anemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013085	superficial keratitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010330	keratitis, non-human animal		Superficial keratitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013086	dry eye syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Dry eye syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013087	lens subluxation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Lens subluxation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013088	acute lymphoblastic leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700100	leukemia, non-human animal		Acute lymphoblastic leukemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013091	Lyme disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700201	tick-borne infectious disease, non-human animal		Lyme disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013092	primary central nervous system lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013251	central nervous system neoplasm, non-human animal		Primary central nervous system lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013093	gastric lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013122	gastric neoplasm, non-human animal		Gastric lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013122	gastric neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Gastric neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013094	eye lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013430	eye neoplasm, non-human animal		Eye lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013430	eye neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Eye neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013095	orbit lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013134	orbit neoplasm, non-human animal		Orbit lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013134	orbit neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Orbit neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013097	spinal meningioma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013719	meningioma, non-human animal		Spinal meningioma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013151	spinal cord neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013251	central nervous system neoplasm, non-human animal		Spinal cord neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013719	meningioma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010206	meningeal neoplasm, non-human animal		Meningioma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013098	eosinophilic meningitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013763	meningitis, non-human animal		Eosinophilic meningitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013763	meningitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013647	encephalomyelitis, non-human animal		Meningitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013100	mitral valve prolapse, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013099	mitral valve disorder, non-human animal		Mitral valve prolapse that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013101	diffuse cutaneous mucinosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013595	cutaneous mucinosis, non-human animal		Diffuse cutaneous mucinosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013595	cutaneous mucinosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Cutaneous mucinosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013102	multiple organ dysfunction syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Multiple organ dysfunction syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013103	myasthenia gravis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Myasthenia gravis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013105	myelodysplastic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Myelodysplastic syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013106	myocardial infarction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Myocardial infarction that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013107	endocrine myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010195	myopathy, non-human animal		Endocrine myopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013108	corticosteroid myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010195	myopathy, non-human animal		Corticosteroid myopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013109	Thomsen and Becker disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770017	disease by molecular mechanism, non-human animal		Thomsen and Becker disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013112	anus neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013145	rectal neoplasm, non-human animal		Anus neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013145	rectal neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Rectal neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013113	ear neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013049	disorder of ear, non-human animal		Ear neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013114	axillary neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Axillary neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013115	bile duct neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013385	biliary tract disorder, non-human animal		Bile duct neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013385	biliary tract disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Biliary tract disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013118	heart neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Heart neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013119	conjunctival tumor, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013430	eye neoplasm, non-human animal		Conjunctival tumor that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013120	eyelid neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013430	eye neoplasm, non-human animal		Eyelid neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013121	gallbladder neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Gallbladder neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013123	hair follicle neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013150	skin neoplasm, non-human animal		Hair follicle neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013125	iris neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013430	eye neoplasm, non-human animal		Iris neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013126	laryngeal neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Laryngeal neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013127	lymph node neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Lymph node neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013128	neoplasm of mediastinum, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Neoplasm of mediastinum that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013130	benign muscle neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Benign muscle neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013131	neoplasm of neck, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Neoplasm of neck that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013132	neoplasm of esophagus, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Neoplasm of esophagus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013135	ovarian neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013175	ovarian disorder, non-human animal		Ovarian neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013136	pancreatic neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Pancreatic neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013137	parathyroid gland carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Parathyroid gland carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013138	penile neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013396	penile disorder, non-human animal		Penile neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013139	peripheral nervous system neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Peripheral nervous system neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013141	pharynx cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013131	neoplasm of neck, non-human animal		Pharynx cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013142	pituitary cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013117	brain neoplasm, non-human animal		Pituitary cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013143	pleural neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Pleural neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013147	retroperitoneal neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Retroperitoneal neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013148	scrotum neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013256	scrotal disorder, non-human animal		Scrotum neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013256	scrotal disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Scrotal disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013149	sebaceous gland neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013150	skin neoplasm, non-human animal		Sebaceous gland neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013152	spleen cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Spleen cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013153	sweat gland neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013150	skin neoplasm, non-human animal		Sweat gland neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013154	synovium neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Synovium neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013155	neoplasm of testis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013257	testicular disorder, non-human animal		Neoplasm of testis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013156	thyroid cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Thyroid cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013157	tongue neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013402	tongue disorder, non-human animal		Tongue neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013402	tongue disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011333	mouth disorder, non-human animal		Tongue disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013158	tonsil neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Tonsil neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013159	tracheal cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013403	tracheal disorder, non-human animal		Tracheal cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013403	tracheal disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Tracheal disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013160	urethra neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Urethra neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013161	urinary bladder neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Urinary bladder neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013162	vaginal neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013238	vaginal disorder, non-human animal		Vaginal neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013238	vaginal disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Vaginal disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013163	vulva cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013240	vulvar disease, non-human animal		Vulva cancer that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013240	vulvar disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Vulvar disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013164	radiculopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Radiculopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013165	morbid obesity, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013600	obesity disorder, non-human animal		Morbid obesity that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013166	dyskinesia of esophagus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011364	upper digestive tract disorder, non-human animal		Dyskinesia of esophagus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013167	peptic esophagitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011364	upper digestive tract disorder, non-human animal		Peptic esophagitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013168	optic neuritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013647	encephalomyelitis, non-human animal		Optic neuritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013647	encephalomyelitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal		Encephalomyelitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013169	orbital cellulitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013558	cellulitis, non-human animal		Orbital cellulitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013558	cellulitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700109	skin disease caused by bacterial infection, non-human animal		Cellulitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013170	osteoarthritis, hip, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis, hip that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013171	otitis externa, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013050	ear infection, non-human animal		Otitis externa that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013172	acute otitis externa, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013171	otitis externa, non-human animal		Acute otitis externa that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013173	otitis media, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013049	disorder of ear, non-human animal		Otitis media that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013174	ovarian cyst, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013175	ovarian disorder, non-human animal		Ovarian cyst that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013176	ovarian remnant syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013175	ovarian disorder, non-human animal		Ovarian remnant syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013177	acute pancreatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013602	pancreatitis, non-human animal		Acute pancreatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013602	pancreatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Pancreatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013178	chronic pancreatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013602	pancreatitis, non-human animal		Chronic pancreatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013179	paraneoplastic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Paraneoplastic syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013180	pemphigus foliaceus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010138	pemphigus, non-human animal		Pemphigus foliaceus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013181	neuritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Neuritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013182	radial neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013386	brachial plexus neuropathy, non-human animal		Radial neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013386	brachial plexus neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Brachial plexus neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013183	sciatic neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Sciatic neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013184	ulnar neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013386	brachial plexus neuropathy, non-human animal		Ulnar neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013186	aspiration pneumonia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013090	lung disorder, non-human animal		Aspiration pneumonia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013188	polycystic ovary syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Polycystic ovary syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013189	toxic polyneuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Toxic polyneuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013190	anal polyp, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013193	polyp of rectum, non-human animal		Anal polyp that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013193	polyp of rectum, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013723	polyp, non-human animal		Polyp of rectum that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013191	polyp of middle ear, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013723	polyp, non-human animal		Polyp of middle ear that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013723	polyp, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		Polyp that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013192	nasal cavity polyp, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013723	polyp, non-human animal		Nasal cavity polyp that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013194	prostatic cyst, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Prostatic cyst that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013195	psychogenic polydipsia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011351	psychiatric disorder, non-human animal		Psychogenic polydipsia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013196	pulmonary emphysema, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013410	chronic obstructive pulmonary disease, non-human animal		Pulmonary emphysema that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013410	chronic obstructive pulmonary disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013403	tracheal disorder, non-human animal		Chronic obstructive pulmonary disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013197	pulmonary fibrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013090	lung disorder, non-human animal		Pulmonary fibrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013199	pulmonary edema, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013204	respiratory failure, non-human animal		Pulmonary edema that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013202	rectal prolapse, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Rectal prolapse that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013203	refeeding syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011338	nutritional disorder, non-human animal		Refeeding syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013205	viral respiratory tract infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Viral respiratory tract infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013206	hypertensive retinopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Hypertensive retinopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013207	common cold, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013205	viral respiratory tract infection, non-human animal		Common cold that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013208	chronic rhinitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013749	rhinitis, non-human animal		Chronic rhinitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013209	sick sinus syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Sick sinus syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013210	vascular myelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013400	spinal cord disorder, non-human animal		Vascular myelopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013211	spinal cord injury, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013400	spinal cord disorder, non-human animal		Spinal cord injury that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013212	lumbar spinal stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010303	spinal stenosis, non-human animal		Lumbar spinal stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013213	splenic infarction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Splenic infarction that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013214	spondylosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Spondylosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013215	anal margin squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013269	skin squamous cell carcinoma, non-human animal		Anal margin squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013269	skin squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013292	skin carcinoma, non-human animal		Skin squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013216	ulcerative stomatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025028	vesicular stomatitis		Ulcerative stomatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013217	pulmonary subvalvular stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013069	heart valve disorder, non-human animal		Pulmonary subvalvular stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013218	congenital radioulnar synostosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013618	synostosis, non-human animal		Congenital radioulnar synostosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013219	spermatic cord torsion, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013257	testicular disorder, non-human animal		Spermatic cord torsion that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013220	thiamine deficiency non-human animal	http://purl.obolibrary.org/obo/MONDO_0700103	nutritional deficiency disease, non-human animal		Thiamine deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013221	portal vein thrombosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013222	thrombotic disease, non-human animal		Portal vein thrombosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013222	thrombotic disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Thrombotic disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013223	thyroid crisis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010055	hyperthyroidism, non-human animal		Thyroid crisis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013224	tick paralysis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0024969	parasitic disease, non-human animal		Tick paralysis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013225	toxic epidermal necrolysis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Toxic epidermal necrolysis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013226	tracheal stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013403	tracheal disorder, non-human animal		Tracheal stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013227	tricuspid valve disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013069	heart valve disorder, non-human animal		Tricuspid valve disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013228	tricuspid valve prolapse, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013227	tricuspid valve disorder, non-human animal		Tricuspid valve prolapse that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013229	tricuspid valve stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013227	tricuspid valve disorder, non-human animal		Tricuspid valve stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013230	tumor lysis syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Tumor lysis syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013231	urethral obstruction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		Urethral obstruction that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013232	urethral stricture, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013231	urethral obstruction, non-human animal		Urethral stricture that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013233	urinary tract infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Urinary tract infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013234	bacterial urinary tract infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Bacterial urinary tract infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013235	anterior uveitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013754	uveitis, non-human animal		Anterior uveitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013754	uveitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Uveitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013236	phacoanaphylactic uveitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013235	anterior uveitis, non-human animal		Phacoanaphylactic uveitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013237	posterior uveitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013754	uveitis, non-human animal		Posterior uveitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013241	Zollinger-Ellison syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Zollinger-Ellison syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013243	intermittent vascular claudication, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Intermittent vascular claudication that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013244	atrial flutter, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Atrial flutter that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013245	first-degree atrioventricular block, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013384	atrioventricular block, non-human animal		First-degree atrioventricular block that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013384	atrioventricular block, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Atrioventricular block that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013246	second-degree atrioventricular block, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013384	atrioventricular block, non-human animal		Second-degree atrioventricular block that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013247	third-degree atrioventricular block, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013384	atrioventricular block, non-human animal		Third-degree atrioventricular block that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013248	ventricular tachycardia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Ventricular tachycardia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013249	central diabetes insipidus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Central diabetes insipidus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013250	spinal cord ependymoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013151	spinal cord neoplasm, non-human animal		Spinal cord ependymoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013252	gingival neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013185	periodontal disorder, non-human animal		Gingival neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013253	hypertrophic pyloric stenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010040	pyloric stenosis, non-human animal		Hypertrophic pyloric stenosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013254	primary aldosteronism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010061	hyperaldosteronism, non-human animal		Primary aldosteronism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013255	glycogen storage disease VII, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Glycogen storage disease VII that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013259	peritoneal neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Peritoneal neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013260	peliosis hepatis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Peliosis hepatis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013261	chronic kidney disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Chronic kidney disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013262	interstitial nephritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010259	nephritis, non-human animal		Interstitial nephritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013263	atrial standstill, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Atrial standstill that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013264	lung abscess, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013735	abscess, non-human animal		Lung abscess that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013265	metabolic acidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Metabolic acidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013266	malignant mesothelioma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013706	mesothelioma, non-human animal		Malignant mesothelioma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013706	mesothelioma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Mesothelioma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013267	neoplasm of jaw, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Neoplasm of jaw that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013292	skin carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013150	skin neoplasm, non-human animal		Skin carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013270	sebaceous adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013292	skin carcinoma, non-human animal		Sebaceous adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013271	gastric adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013293	gastric carcinoma, non-human animal		Gastric adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013293	gastric carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013122	gastric neoplasm, non-human animal		Gastric carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013272	small intestine adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013275	small intestine carcinoma, non-human animal		Small intestine adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013275	small intestine carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		Small intestine carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013273	skin carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013274	in situ carcinoma, non-human animal		Skin carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013274	in situ carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		In situ carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013276	colon carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		Colon carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013277	colon carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013276	colon carcinoma, non-human animal		Colon carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013279	rectum carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013274	in situ carcinoma, non-human animal		Rectum carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013280	laryngeal carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013126	laryngeal neoplasm, non-human animal		Laryngeal carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013281	larynx carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013280	laryngeal carcinoma, non-human animal		Larynx carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013282	nasal cavity carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013394	nasal disorder, non-human animal		Nasal cavity carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013283	nasal cavity carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013282	nasal cavity carcinoma, non-human animal		Nasal cavity carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013284	nasopharyngeal carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013429	nasopharyngeal neoplasm, non-human animal		Nasopharyngeal carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013429	nasopharyngeal neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Nasopharyngeal neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013285	carcinoma in situ of nasopharynx, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013284	nasopharyngeal carcinoma, non-human animal		Carcinoma in situ of nasopharynx that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013287	esophagus carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013274	in situ carcinoma, non-human animal		Esophagus carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013288	exocrine pancreatic carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013136	pancreatic neoplasm, non-human animal		Exocrine pancreatic carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013289	renal carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013146	kidney neoplasm, non-human animal		Renal carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013290	kidney carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013289	renal carcinoma, non-human animal		Kidney carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013291	salivary gland carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013381	salivary gland disorder, non-human animal		Salivary gland carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013381	salivary gland disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011333	mouth disorder, non-human animal		Salivary gland disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013294	stomach carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013274	in situ carcinoma, non-human animal		Stomach carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013296	tonsil carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013158	tonsil neoplasm, non-human animal		Tonsil carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013297	carcinoma of urethra, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013160	urethra neoplasm, non-human animal		Carcinoma of urethra that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013298	carcinoma in situ of urethra, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013297	carcinoma of urethra, non-human animal		Carcinoma in situ of urethra that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013299	urinary bladder carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013161	urinary bladder neoplasm, non-human animal		Urinary bladder carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013300	bladder carcinoma in situ, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013299	urinary bladder carcinoma, non-human animal		Bladder carcinoma in situ that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013301	adrenal cortex carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013289	renal carcinoma, non-human animal		Adrenal cortex carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013302	choroid plexus carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013117	brain neoplasm, non-human animal		Choroid plexus carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013303	ovarian carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013135	ovarian neoplasm, non-human animal		Ovarian carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013304	tumor of uterus, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Tumor of uterus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013305	uterine carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013304	tumor of uterus, non-human animal		Uterine carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013306	cecum adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013276	colon carcinoma, non-human animal		Cecum adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013307	gallbladder adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013121	gallbladder neoplasm, non-human animal		Gallbladder adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013308	breast adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700099	adenocarcinoma, non-human animal		Breast adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013309	nasal cavity adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013282	nasal cavity carcinoma, non-human animal		Nasal cavity adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013310	pancreatic adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013288	exocrine pancreatic carcinoma, non-human animal		Pancreatic adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013311	urethra adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013297	carcinoma of urethra, non-human animal		Urethra adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013312	bladder adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013299	urinary bladder carcinoma, non-human animal		Bladder adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013313	adrenal cortex adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Adrenal cortex adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013314	gallbladder adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Gallbladder adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013315	colorectal adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Colorectal adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013316	adenoma of pancreas, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Adenoma of pancreas that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013317	parathyroid gland adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Parathyroid gland adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013319	rectum adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013315	colorectal adenoma, non-human animal		Rectum adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013320	renal adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Renal adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013322	adenoma of small intestine, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Adenoma of small intestine that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013323	gastric adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Gastric adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013324	sebaceous adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Sebaceous adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013325	sweat gland adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Sweat gland adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013326	follicular thyroid adenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Follicular thyroid adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013327	acute myeloid leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Acute myeloid leukemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013328	acquired polycythemia vera, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Acquired polycythemia vera that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013329	plasma cell myeloma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Plasma cell myeloma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013330	extraosseous osteosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010212	osteosarcoma, non-human animal		Extraosseous osteosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013331	thymoma type B3, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013724	thymoma, non-human animal		Thymoma type B3 that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013724	thymoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013729	epithelial neoplasm, non-human animal		Thymoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013332	skin basal cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013333	basal cell carcinoma, non-human animal		Skin basal cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013333	basal cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		Basal cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013334	basosquamous carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013332	skin basal cell carcinoma, non-human animal		Basosquamous carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013335	biliary cystadenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013727	cystadenocarcinoma, non-human animal		Biliary cystadenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013727	cystadenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700099	adenocarcinoma, non-human animal		Cystadenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013336	ovarian cystadenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013405	ovarian adenocarcinoma, non-human animal		Ovarian cystadenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013405	ovarian adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013303	ovarian carcinoma, non-human animal		Ovarian adenocarcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013337	multilocular clear cell renal cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013289	renal carcinoma, non-human animal		Multilocular clear cell renal cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013338	ovarian cystadenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013728	cystadenoma, non-human animal		Ovarian cystadenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013728	cystadenoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human		Cystadenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013339	dysgerminoma of ovary, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013135	ovarian neoplasm, non-human animal		Dysgerminoma of ovary that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013340	bone fibrosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Bone fibrosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013341	liver fibrosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Liver fibrosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013342	kidney fibrosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Kidney fibrosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013343	granulosa cell tumor, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Granulosa cell tumor that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013344	skin hemangioma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Skin hemangioma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013345	colorectal leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013715	leiomyoma, non-human animal		Colorectal leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013715	leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013130	benign muscle neoplasm, non-human animal		Leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013346	esophagus leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013715	leiomyoma, non-human animal		Esophagus leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013347	gastric leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013715	leiomyoma, non-human animal		Gastric leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013348	rectum leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013345	colorectal leiomyoma, non-human animal		Rectum leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013349	small intestine leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013715	leiomyoma, non-human animal		Small intestine leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013350	trachea leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013715	leiomyoma, non-human animal		Trachea leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013351	bladder leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013715	leiomyoma, non-human animal		Bladder leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013352	vaginal leiomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013715	leiomyoma, non-human animal		Vaginal leiomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013353	rectum leiomyosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013716	leiomyosarcoma, non-human animal		Rectum leiomyosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013716	leiomyosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Leiomyosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013354	small intestine leiomyosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013716	leiomyosarcoma, non-human animal		Small intestine leiomyosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013355	gastric leiomyosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013716	leiomyosarcoma, non-human animal		Gastric leiomyosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013356	leiomyosarcoma of the corpus uteri, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013716	leiomyosarcoma, non-human animal		Leiomyosarcoma of the corpus uteri that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013357	vagina leiomyosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013716	leiomyosarcoma, non-human animal		Vagina leiomyosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013358	acute erythroid leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013327	acute myeloid leukemia, non-human animal		Acute erythroid leukemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013359	acute basophilic leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013327	acute myeloid leukemia, non-human animal		Acute basophilic leukemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013360	chronic eosinophilic leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Chronic eosinophilic leukemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013361	essential thrombocythemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Essential thrombocythemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013362	primary bone lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Primary bone lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013363	heart lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013118	heart neoplasm, non-human animal		Heart lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013364	liver lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013124	liver cancer, non-human animal		Liver lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013365	rectum lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013145	rectal neoplasm, non-human animal		Rectum lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013366	frontal sinus squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013474	paranasal sinus carcinoma, non-human animal		Frontal sinus squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013474	paranasal sinus carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013394	nasal disorder, non-human animal		Paranasal sinus carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013367	nasal cavity squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013282	nasal cavity carcinoma, non-human animal		Nasal cavity squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013368	primary prostate urothelial carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		Primary prostate urothelial carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013369	renal pelvis urothelial carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013289	renal carcinoma, non-human animal		Renal pelvis urothelial carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013370	urethra transitional cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013297	carcinoma of urethra, non-human animal		Urethra transitional cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013377	injury, non-human animal	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Damage inflicted on the body of a non-human animal as the direct or indirect result of an external force, with or without disruption of structural continuity.
http://purl.obolibrary.org/obo/MONDO_1013378	motion sickness, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013049	disorder of ear, non-human animal		Motion sickness that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013379	primary systemic amyloidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010093	AL amyloidosis, non-human animal		Primary systemic amyloidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013380	Rotavirus infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Rotavirus infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013382	spinal injury, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013377	injury, non-human animal		Spinal injury that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013383	bacterial arthritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Bacterial arthritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013627	teratoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Teratoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013392	intestinal obstruction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Intestinal obstruction that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013393	intestinal perforation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Intestinal perforation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013395	ossifying fibroma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Ossifying fibroma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013401	bicipital tenosynovitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013753	tenosynovitis, non-human animal		Bicipital tenosynovitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013753	tenosynovitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013752	tendinitis, non-human animal		Tenosynovitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013404	acute kidney tubular necrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013530	acute kidney injury, non-human animal		Acute kidney tubular necrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013530	acute kidney injury, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013779	kidney failure, non-human animal		Acute kidney injury that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013406	amelanotic melanoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700132	melanoma, non-human animal		Amelanotic melanoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013407	band keratopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013703	keratopathy, non-human animal		Band keratopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013703	keratopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013388	corneal disorder, non-human animal		Keratopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013408	biliary atresia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013564	cholestasis, non-human animal		Biliary atresia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013564	cholestasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013385	biliary tract disorder, non-human animal		Cholestasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013409	cervical incompetence, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Cervical incompetence that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013411	congenital stationary night blindness, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010359	night blindness, non-human animal		Congenital stationary night blindness that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013412	dentigerous cyst, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Dentigerous cyst that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013413	eastern equine encephalitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013508	viral encephalitis, non-human animal		Eastern equine encephalitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013414	epidermoid cysts, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Epidermoid cysts that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013415	acute epiglottitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013648	epiglottitis, non-human animal		Acute epiglottitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013586	laryngitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Laryngitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013648	epiglottitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Epiglottitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013577	gastroenteritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Gastroenteritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013419	intestinal atresia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Intestinal atresia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013420	intestinal impaction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013392	intestinal obstruction, non-human animal		Intestinal impaction that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013421	anterior ischemic optic neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013038	cranial nerve neuropathy, non-human animal		Anterior ischemic optic neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013422	lip disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011333	mouth disorder, non-human animal		Lip disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013423	ovarian lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013135	ovarian neoplasm, non-human animal		Ovarian lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013424	meconium aspiration syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013090	lung disorder, non-human animal		Meconium aspiration syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013425	Mycoplasmoides infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Mycoplasmoides infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013426	parasitic myositis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0024969	parasitic disease, non-human animal		Parasitic myositis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013427	clitoris neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013240	vulvar disease, non-human animal		Clitoris neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013428	cornea neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013430	eye neoplasm, non-human animal		Cornea neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013431	cutaneous myiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0024969	parasitic disease, non-human animal		Cutaneous myiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013433	constrictive pericarditis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013748	pericarditis, non-human animal		Constrictive pericarditis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013748	pericarditis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Pericarditis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013434	femoral neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Femoral neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013435	median nerve neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013386	brachial plexus neuropathy, non-human animal		Median nerve neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013436	peroneal neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Peroneal neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013437	tibial neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Tibial neuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013438	viral pneumonia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013205	viral respiratory tract infection, non-human animal		Viral pneumonia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013440	septic peritonitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Septic peritonitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013679	peritonitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011357	serositis, non-human animal		Peritonitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013441	preeclampsia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013079	hypertensive disorder, non-human animal		Preeclampsia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013446	selective IgM deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Selective IgM deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013447	vesiculitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010277	orchitis, non-human animal		Vesiculitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013448	sinoatrial block, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Sinoatrial block that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013450	chronic rhinosinusitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013750	sinusitis, non-human animal		Chronic rhinosinusitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013750	sinusitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013394	nasal disorder, non-human animal		Sinusitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013453	thoracic malformation, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Thoracic malformation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013454	conjunctival squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013119	conjunctival tumor, non-human animal		Conjunctival squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013455	cornea squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013428	cornea neoplasm, non-human animal		Cornea squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013456	gastric squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013293	gastric carcinoma, non-human animal		Gastric squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013457	esophageal squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013286	carcinoma of esophagus, non-human animal		Esophageal squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013458	urethra squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013297	carcinoma of urethra, non-human animal		Urethra squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013459	bladder squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013299	urinary bladder carcinoma, non-human animal		Bladder squamous cell carcinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013460	squamous papilloma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Squamous papilloma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013461	tendon sheath disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011309	connective tissue disorder, non-human animal		Tendon sheath disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013462	western equine encephalitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700114	vector-borne disease, non-human animal		Western equine encephalitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013463	labyrinthitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013049	disorder of ear, non-human animal		Labyrinthitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013469	myelophthisic anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013010	aplastic anemia, non-human animal		Myelophthisic anemia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013471	vestibular ataxia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012958	atactic disorder, non-human animal		Vestibular ataxia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013472	paroxysmal atrial fibrillation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010024	atrial fibrillation, non-human animal		Paroxysmal atrial fibrillation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013475	cavernous hemangioma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Cavernous hemangioma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013476	middle ear cholesterol granuloma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013173	otitis media, non-human animal		Middle ear cholesterol granuloma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013477	choroid plexus papilloma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013117	brain neoplasm, non-human animal		Choroid plexus papilloma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013478	infection due to clostridium perfringens, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Infection due to clostridium perfringens that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013479	coloboma of eyelid, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma of eyelid that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013480	coloboma of iris, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma of iris that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013481	coloboma of optic nerve, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Coloboma of optic nerve that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013483	contagious pustular dermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Contagious pustular dermatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013487	actinomycosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Actinomycosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013488	adenoviridae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Adenoviridae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013489	Arenaviridae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Arenaviridae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013490	gout, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Gout that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013491	avian influenza, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013205	viral respiratory tract infection, non-human animal		Avian influenza that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013492	Bacteroides infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Bacteroides infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013493	nutritional biotin deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700103	nutritional deficiency disease, non-human animal		Nutritional biotin deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013494	diphtheria, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Diphtheria that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013495	cytomegalovirus infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700214	Herpesviridae infectious disease, non-human animal		Cytomegalovirus infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013496	cystic echinococcosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025082	helminthiasis, animal		Cystic echinococcosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013497	haemophilus infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Haemophilus infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013498	hantavirus infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700202	Bunyaviridae infectious disease, non-human animal		Hantavirus infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013499	hypervitaminosis A, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011338	nutritional disorder, non-human animal		Hypervitaminosis A that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013500	hypervitaminosis D, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011338	nutritional disorder, non-human animal		Hypervitaminosis D that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013501	scurvy, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700103	nutritional deficiency disease, non-human animal		Scurvy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013502	neurolymphomatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Neurolymphomatosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013503	monkeypox, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Monkeypox that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013504	Proteus infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Proteus infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013505	pneumococcal infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Pneumococcal infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013506	corneal edema, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013388	corneal disorder, non-human animal		Corneal edema that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013573	encephalitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013647	encephalomyelitis, non-human animal		Encephalitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013509	acute endometritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013574	endometritis, non-human animal		Acute endometritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013574	endometritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Endometritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013510	chronic endometritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013574	endometritis, non-human animal		Chronic endometritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013511	glycogen storage disease due to glycogen branching enzyme deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Glycogen storage disease due to glycogen branching enzyme deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013512	central congenital hypothyroidism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010057	congenital hypothyroidism, non-human animal		Central congenital hypothyroidism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013513	isolated thyrotropin-releasing hormone deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013512	central congenital hypothyroidism, non-human animal		Isolated thyrotropin-releasing hormone deficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013514	lactic acidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Lactic acidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013515	laryngeal granuloma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Laryngeal granuloma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013516	congenital laryngeal web, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Congenital laryngeal web that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013517	mediastinal malignant lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013128	neoplasm of mediastinum, non-human animal		Mediastinal malignant lymphoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013518	undifferentiated pleomorphic sarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Undifferentiated pleomorphic sarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013519	primary melanoma of the central nervous system, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700132	melanoma, non-human animal		Primary melanoma of the central nervous system that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013520	viral meningitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Viral meningitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013521	molluscum contagiosum, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Molluscum contagiosum that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013522	bronchial neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Bronchial neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013523	secondary neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		Secondary neoplasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013524	isolated optic nerve hypoplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013289	renal carcinoma, non-human animal		Isolated optic nerve hypoplasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013525	pemphigus vulgaris, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010138	pemphigus, non-human animal		Pemphigus vulgaris that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013526	persistent hyperplastic primary vitreous, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Persistent hyperplastic primary vitreous that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013527	placental insufficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Placental insufficiency that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013529	eosinophilic pneumonia, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700110	pneumonia, non-human animal		Eosinophilic pneumonia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013779	kidney failure, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Kidney failure that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013532	renal tubular acidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Renal tubular acidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013533	cardiogenic shock, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Cardiogenic shock that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013534	euthyroid sick syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Euthyroid sick syndrome that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013535	staphylococcus aureus infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Staphylococcus aureus infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013536	urachal diverticulum, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		Urachal diverticulum that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013537	ventricular fibrillation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Ventricular fibrillation that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013538	dientamoebiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025114	protozoan infections, animal		Dientamoebiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013539	eosinophilic gastritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013744	gastritis, non-human animal		Eosinophilic gastritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013540	granulomatous gastritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013744	gastritis, non-human animal		Granulomatous gastritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013541	intestinal infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Intestinal infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013542	intestinal lymphangiectasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Intestinal lymphangiectasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013543	Crohn disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Crohn disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013544	vascular ectasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Vascular ectasia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013545	portal hypertension, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Portal hypertension that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013546	emphysematous cholecystitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013562	cholecystitis, non-human animal		Emphysematous cholecystitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013562	cholecystitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013561	cholangitis, non-human animal		Cholecystitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013547	acne, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Acne that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013548	anaphylaxis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Anaphylaxis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013549	ankylosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Ankylosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013550	aspergillosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700056	fungal infectious disease, non-human animal		Aspergillosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013551	balanitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013396	penile disorder, non-human animal		Balanitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013552	blepharitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Blepharitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013553	bordetellosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Bordetellosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013554	botulism, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Botulism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013555	bronchiectasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013410	chronic obstructive pulmonary disease, non-human animal		Bronchiectasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013556	campylobacteriosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Campylobacteriosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013557	candidiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700056	fungal infectious disease, non-human animal		Candidiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013559	chalazion, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013552	blepharitis, non-human animal		Chalazion that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013560	cheilitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013422	lip disorder, non-human animal		Cheilitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013561	cholangitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013385	biliary tract disorder, non-human animal		Cholangitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013563	cholelithiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013385	biliary tract disorder, non-human animal		Cholelithiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013565	chorioretinitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013754	uveitis, non-human animal		Chorioretinitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013567	constipation disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		Constipation disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013568	cryptococcosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0024969	parasitic disease, non-human animal		Cryptococcosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013569	cryptosporidiosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013566	coccidiosis, non-human animal		Cryptosporidiosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013571	phototoxic dermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013765	photosensitivity disease, non-human animal		Phototoxic dermatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013765	photosensitivity disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Photosensitivity disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013572	pleural empyema, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Pleural empyema that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013575	endophthalmitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Endophthalmitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013576	enteritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013577	gastroenteritis, non-human animal		Enteritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013578	giardiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025114	protozoan infections, animal		Giardiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013579	hemopericardium, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013397	pericardial effusion, non-human animal		Hemopericardium that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013580	hydronephrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Hydronephrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013581	humoral hypercalcemia of malignancy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013179	paraneoplastic syndrome, non-human animal		Humoral hypercalcemia of malignancy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013582	hyperinsulinism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Hyperinsulinism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013583	hypopituitarism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013017	brain disorder, non-human animal		Hypopituitarism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013585	pancreatic insulinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013136	pancreatic neoplasm, non-human animal		Pancreatic insulinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013587	leptospirosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Leptospirosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013588	liposarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Liposarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013589	listeriosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700114	vector-borne disease, non-human animal		Listeriosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013590	lymphadenitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Lymphadenitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013593	mediastinitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Mediastinitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013594	meningoencephalitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013573	encephalitis, non-human animal		Meningoencephalitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013596	myelitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013647	encephalomyelitis, non-human animal		Myelitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013597	myelofibrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Myelofibrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013598	myocarditis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Myocarditis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013599	nephrocalcinosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Nephrocalcinosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013601	ophthalmoplegia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013038	cranial nerve neuropathy, non-human animal		Ophthalmoplegia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013603	pancytopenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Pancytopenia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013604	panniculitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Panniculitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013605	paraphimosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013660	phimosis, non-human animal		Paraphimosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013660	phimosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013396	penile disorder, non-human animal		Phimosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013606	paronychia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Paronychia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013607	pharyngitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Pharyngitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013608	polyneuritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013181	neuritis, non-human animal		Polyneuritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013609	polyradiculoneuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012987	demyelinating disease, non-human animal		Polyradiculoneuropathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013610	proctitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Proctitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013611	prostatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Prostatitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013612	ptosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Ptosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013613	pyelonephritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013234	bacterial urinary tract infection, non-human animal		Pyelonephritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013614	rabies, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Rabies that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013615	seminoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Seminoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013616	sialolithiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013381	salivary gland disorder, non-human animal		Sialolithiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013619	synovitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013736	arthritic joint disease, non-human animal		Synovitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013620	tetanus, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Tetanus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013621	thyrotoxicosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010055	hyperthyroidism, non-human animal		Thyrotoxicosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013622	tonsillitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Tonsillitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013623	tracheitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Tracheitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013624	urethritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013234	bacterial urinary tract infection, non-human animal		Urethritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013625	vaginitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013238	vaginal disorder, non-human animal		Vaginitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013626	iritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013754	uveitis, non-human animal		Iritis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013628	common wart, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Common wart that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013630	glucagonoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013136	pancreatic neoplasm, non-human animal		Glucagonoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013631	hamartoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Hamartoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013632	luteoma of pregnancy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013175	ovarian disorder, non-human animal		Luteoma of pregnancy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013633	neurofibroma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013140	nerve sheath neoplasm, non-human animal		Neurofibroma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013634	neurofibrosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013633	neurofibroma, non-human animal		Neurofibrosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013636	pilomatrixoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013123	hair follicle neoplasm, non-human animal		Pilomatrixoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013637	rhabdomyoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013130	benign muscle neoplasm, non-human animal		Rhabdomyoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013638	thecoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Thecoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013639	trichofolliculoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013631	hamartoma, non-human animal		Trichofolliculoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013641	anhidrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013399	skin disorder, non-human animal		Anhidrosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013642	arthrogryposis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013466	movement disorder, non-human animal		Arthrogryposis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013643	balanoposthitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013680	posthitis, non-human animal		Balanoposthitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013680	posthitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013396	penile disorder, non-human animal		Posthitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013644	carbuncle, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010142	pyoderma, non-human animal		Carbuncle that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013645	cervicitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Cervicitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013649	ergotism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013654	mycotoxicosis, non-human animal		Ergotism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013654	mycotoxicosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011345	poisoning, non-human animal		Mycotoxicosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013650	frostbite, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013377	injury, non-human animal		Frostbite that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013651	glanders, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Glanders that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013652	hepatoblastoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013124	liver cancer, non-human animal		Hepatoblastoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013655	lathyrism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011345	poisoning, non-human animal		Lathyrism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013656	lymphangitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Lymphangitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013657	nocardiosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Nocardiosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013658	papillomatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013729	epithelial neoplasm, non-human animal		Papillomatosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013659	pasteurellosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Pasteurellosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013661	phlebitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		Phlebitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013662	pleuropneumonia, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700110	pneumonia, non-human animal		Pleuropneumonia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013663	salpingitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Salpingitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013664	sarcoidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Sarcoidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013665	sporotrichosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700056	fungal infectious disease, non-human animal		Sporotrichosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013666	varicocele, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013256	scrotal disorder, non-human animal		Varicocele that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013667	pica disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011351	psychiatric disorder, non-human animal		Pica disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013668	impetigo, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013535	staphylococcus aureus infection, non-human animal		Impetigo that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013669	benign essential blepharospasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013466	movement disorder, non-human animal		Benign essential blepharospasm that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013670	albinism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Albinism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013671	angioedema, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Angioedema that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013672	aniridia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Aniridia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013673	anthrax infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Anthrax infection that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013674	exophthalmos, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		Exophthalmos that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013675	mucopolysaccharidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Mucopolysaccharidosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013676	cysticercosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025082	helminthiasis, animal		Cysticercosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013677	dicrocoeliasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025082	helminthiasis, animal		Dicrocoeliasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013678	erysipelas, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Erysipelas that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013681	scrapie, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700108	prion disease, non-human animal		Scrapie that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013682	vulvovaginitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013625	vaginitis, non-human animal		Vulvovaginitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013683	aflatoxicosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011345	poisoning, non-human animal		Aflatoxicosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013684	appendicitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013577	gastroenteritis, non-human animal		Appendicitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013685	dystocia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011339	obstetric disorder, non-human animal		Dystocia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013686	filariasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025082	helminthiasis, animal		Filariasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013688	hemosiderosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Hemosiderosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013689	hypersplenism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013777	lymphatic system disorder, non-human animal		Hypersplenism that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013690	trichomoniasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025114	protozoan infections, animal		Trichomoniasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013691	xanthomatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Xanthomatosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013693	babesiosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025114	protozoan infections, animal		Babesiosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013694	diverticulitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011327	inflammatory disease, non-human animal		Diverticulitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013695	endometriosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Endometriosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013696	enophthalmos, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011315	disorder of orbital region, non-human animal		Enophthalmos that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013697	epididymitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Epididymitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013698	fibroma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Fibroma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013700	histoplasmosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700056	fungal infectious disease, non-human animal		Histoplasmosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013701	hyalitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013754	uveitis, non-human animal		Hyalitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013702	hydrosalpinx, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Hydrosalpinx that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013704	medulloepithelioma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013251	central nervous system neoplasm, non-human animal		Medulloepithelioma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013705	megalocornea, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013388	corneal disorder, non-human animal		Megalocornea that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013707	mycetoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Mycetoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013708	neuroma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Neuroma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013709	oligospermia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal		Oligospermia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013710	panophthalmitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013575	endophthalmitis, non-human animal		Panophthalmitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013711	inherited torticollis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Inherited torticollis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013712	ureterocele, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		Ureterocele that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013714	chondrosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Chondrosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013717	lipoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Lipoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013720	myxoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Myxoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013721	myxosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Myxosarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013722	plasmacytoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Plasmacytoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013725	carcinoid tumor, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Carcinoid tumor that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013726	chondroma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013110	benign neoplasm, non-human animal		Chondroma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013733	osteoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Osteoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013734	bursitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Bursitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013778	bone inflammation disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		Bone inflammation disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013742	enthesopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011309	connective tissue disorder, non-human animal		Enthesopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013743	bone fracture, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013377	injury, non-human animal		Bone fracture that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013745	mastitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011303	mammary gland disorder, non-human animal		Mastitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013747	osteomyelitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013778	bone inflammation disease, non-human animal		Osteomyelitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013752	tendinitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013746	myositis disease, non-human animal		Tendinitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013755	botryomycosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Botryomycosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013756	bronchitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Bronchitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013759	enterocolitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Enterocolitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013760	enthesitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013742	enthesopathy, non-human animal		Enthesitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013761	exostosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010157	hyperostosis, non-human animal		Exostosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013762	folliculitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013739	dermatitis, non-human animal		Folliculitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013766	spondylolisthesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Spondylolisthesis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013767	adamantinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013116	bone neoplasm, non-human animal		Adamantinoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013768	hypersensitivity pneumonitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013090	lung disorder, non-human animal		Hypersensitivity pneumonitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013769	ileus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013392	intestinal obstruction, non-human animal		Ileus that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013771	thrombophlebitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013661	phlebitis, non-human animal		Thrombophlebitis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1013780	cerebellar abiotrophy, MUTYH-related, horse	http://purl.obolibrary.org/obo/MONDO_1012040	cerebellar abiotrophy, horse		A cerebellar abiotrophy in horse in which the cause of the disease is a mutation in the MUTYH gene.
http://purl.obolibrary.org/obo/MONDO_1013781	cerebellar abiotrophy, TOE1-related, horse	http://purl.obolibrary.org/obo/MONDO_1012040	cerebellar abiotrophy, horse		A cerebellar abiotrophy in horse in which the cause of the disease is a mutation in the TOE1 gene.
http://purl.obolibrary.org/obo/MONDO_1013782	degenerative myelopathy, SOD1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012056	degenerative myelopathy, dog		A degenerative myelopathy in dog in which the cause of the disease is a mutation in the SOD1 gene.
http://purl.obolibrary.org/obo/MONDO_1013783	degenerative myelopathy, SP110-related, dog	http://purl.obolibrary.org/obo/MONDO_1012056	degenerative myelopathy, dog		A degenerative myelopathy in dog in which the cause of the disease is a mutation in the SP110 gene.
http://purl.obolibrary.org/obo/MONDO_1013784	polydactyly, SHH-related, dog	http://purl.obolibrary.org/obo/MONDO_1010811	polydactyly, dog		A polydactyly in dog in which the cause of the disease is a mutation in the SHH gene.
http://purl.obolibrary.org/obo/MONDO_1013785	polydactyly, ALX4-related, dog	http://purl.obolibrary.org/obo/MONDO_1010811	polydactyly, dog		A polydactyly in dog in which the cause of the disease is a mutation in the ALX4 gene.
http://purl.obolibrary.org/obo/MONDO_1013786	polydactyly, SHH-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010812	polydactyly, domestic cat		A polydactyly in domestic cat in which the cause of the disease is a mutation in the SHH gene.
http://purl.obolibrary.org/obo/MONDO_1013787	polydactyly, LMBR1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010812	polydactyly, domestic cat		A polydactyly in domestic cat in which the cause of the disease is a mutation in the LMBR1 gene.
http://purl.obolibrary.org/obo/MONDO_1013788	invasive transitional cell carcinoma, BRAF-related, dog	http://purl.obolibrary.org/obo/MONDO_1012404	invasive transitional cell carcinoma, dog		An invasive transitional cell carcinoma in dog in which the cause of the disease is a mutation in the BRAF gene.
http://purl.obolibrary.org/obo/MONDO_1013789	invasive transitional cell carcinoma, MAP2K1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012404	invasive transitional cell carcinoma, dog		An invasive transitional cell carcinoma in dog in which the cause of the disease is a mutation in the MAP2K1 gene.
http://purl.obolibrary.org/obo/MONDO_1013790	invasive transitional cell carcinoma, NIPAL1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012404	invasive transitional cell carcinoma, dog		An invasive transitional cell carcinoma in dog in which the cause of the disease is a mutation in the NIPAL1 gene.
http://purl.obolibrary.org/obo/MONDO_1013791	periodic fever syndrome, HAS2-related, dog	http://purl.obolibrary.org/obo/MONDO_1010737	periodic fever syndrome, dog		A periodic fever syndrome in dog in which the cause of the disease is a mutation in the HAS2 gene.
http://purl.obolibrary.org/obo/MONDO_1013792	periodic fever syndrome, MTBP-related, dog	http://purl.obolibrary.org/obo/MONDO_1010737	periodic fever syndrome, dog		A periodic fever syndrome in dog in which the cause of the disease is a mutation in the MTBP gene.
http://purl.obolibrary.org/obo/MONDO_1060216	TSEN2-related neurodevelopmental disorder with or without thrombotic microangiopathy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a variation in the TSEN2 gene. This condition is associated with intellectual disability, growth delay, hypotonia, motor delay, ataxia, vision issues, cardiac features (including left ventricular hypertrophy), and pulmonary complications (such as acute respiratory distress and edema). It is also linked to brain structural anomalies such as pontine and cerebellar hypoplasia, cortical atrophy, and dilated ventricles. Renal features include proteinuria, thrombotic microangiopathy, end-stage kidney disease, and high-severity hypertension.
http://purl.obolibrary.org/obo/MONDO_1060217	xanthomatous hypophysitis	http://purl.obolibrary.org/obo/MONDO_0021156	hypophysitis		A rare hypophysitis characterized histologically by mixed inflammatory cell infiltrates consisting of foamy histiocytes, plasma cells, and small round mature lymphocytes infiltrating the anterior pituitary gland. The tissue often contains cystic-like areas of liquefaction filled with lipid-laden macrophages along with lymphocytes and plasma cells.
http://purl.obolibrary.org/obo/MONDO_1060218	xanthogranulomatous hypophysitis	http://purl.obolibrary.org/obo/MONDO_0021156	hypophysitis		A hypophysitis exhibiting histologic features of both xanthomatous and granulomatous hypophysitis, characterized by cholesterol clefts, haemosiderin deposits, multinucleated giant cells, macrophage accumulation and fibrous proliferation.
http://purl.obolibrary.org/obo/MONDO_1060219	necrotizing hypophysitis	http://purl.obolibrary.org/obo/MONDO_0021156	hypophysitis		A rare hypophysitis defined histologically by extensive necrosis of pituitary tissue surrounded by lymphocytes, plasma cells, and eosinophils.
http://purl.obolibrary.org/obo/MONDO_1060220	split cord malformation type I	http://purl.obolibrary.org/obo/MONDO_0009106	diastematomyelia		A rare subtype of split cord malformation characterized by each hemicord contained in its own dural sac, typically with an intervening bony or cartilaginous septum.
http://purl.obolibrary.org/obo/MONDO_1060222	split cord malformation, composite type	http://purl.obolibrary.org/obo/MONDO_0009106	diastematomyelia		A rare intermediate form of split cord malformation characterized by both hemichords encapsulated in a single dural sac with presence of an incomplete ventral or dorsal bony spur.
http://purl.obolibrary.org/obo/MONDO_7770052	gray coat color, STX17-related, horse	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in horse, in which the cause of the disease is a variation in the STX17 gene.
http://purl.obolibrary.org/obo/MONDO_7770054	dominant white coat color, KIT-related, horse	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in horse, in which the cause of the disease is a variation in the KIT gene.
http://purl.obolibrary.org/obo/MONDO_7770059	silver coat color, PMEL-related, horse	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in horse, in which the cause of the disease is a variation in the PMEL gene.
http://purl.obolibrary.org/obo/MONDO_7770067	inflammatory bowel disease, dog	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Inflammatory bowel disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770068	inflammatory bowel disease, domestic cat	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Inflammatory bowel disease that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770069	white spotting coat colour, MITF-related, horse	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in horse, in which the cause of the disease is a variation in the MITF gene.
http://purl.obolibrary.org/obo/MONDO_7770070	auditory-pigmentary syndrome, PAX3-related, horse	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in horse, in which the cause of the disease is a variation in the PAX3 gene.
http://purl.obolibrary.org/obo/MONDO_7770082	aspiration pneumonia, dog	http://purl.obolibrary.org/obo/MONDO_1013186	aspiration pneumonia, non-human animal		Aspiration pneumonia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770091	cataract and non-ketotic hyperglycinemia, grivet	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Cataract and non-ketotic hyperglycinemia that occurs in grivet.
http://purl.obolibrary.org/obo/MONDO_7770096	leopard complex spotting coat colour, TRPM1-related, horse	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in horse, in which the cause of the disease is a variation in the TRPM1 gene.
http://purl.obolibrary.org/obo/MONDO_7770097	cataract, grivet	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Cataract that occurs in grivet.
http://purl.obolibrary.org/obo/MONDO_7770109	vitamin D-deficiency rickets, CYP2R1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Any metabolic disease, occurring in domestic cat, in which the cause of the disease is a variation in the CYP2R1 gene.
http://purl.obolibrary.org/obo/MONDO_7770111	oculocutaneous albinism, TYR-related, axolotl	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Any oculocutaneous albinism, occurring in axolotl, in which the cause of the disease is a variation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_7770113	obesity, domestic cat	http://purl.obolibrary.org/obo/MONDO_1013600	obesity disorder, non-human animal		Obesity that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770114	obesity, horse	http://purl.obolibrary.org/obo/MONDO_1013600	obesity disorder, non-human animal		Obesity that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770118	oculocutaneous albinism, Japanese raccoon dog	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in Japanese raccoon dog.
http://purl.obolibrary.org/obo/MONDO_7770134	spinal muscular atrophy, KDSR-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010997	spinal muscular atrophy, cattle		Any spinal muscular atrophy, occurring in cattle, in which the cause of the disease is a variation in the KDSR gene.
http://purl.obolibrary.org/obo/MONDO_7770149	hemifacial microsomia, LAMB1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in cattle, in which the cause of the disease is a variation in the LAMB1 gene.
http://purl.obolibrary.org/obo/MONDO_7770166	Parkinson disease, dog	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Parkinson disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770168	testicular agenesis, dog	http://purl.obolibrary.org/obo/MONDO_7770429	difference of sexual development, wolf		Testicular agenesis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770170	primary ciliary dyskinesia, STK36-related, dog	http://purl.obolibrary.org/obo/MONDO_1012138	primary ciliary dyskinesia, dog		Any primary ciliary dyskinesia, occurring in dog, in which the cause of the disease is a variation in the STK36 gene.
http://purl.obolibrary.org/obo/MONDO_7770171	Usher syndrome, rabbit	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Usher syndrome that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_7770172	skeletal dysplasia, FGD3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Any skeletal dysplasia, occurring in cattle, in which the cause of the disease is a variation in the FGD3 gene.
http://purl.obolibrary.org/obo/MONDO_7770173	haplotype with homozygous deficiency JBH17, CDC45-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any hereditary disease, occurring in cattle, in which the cause of the disease is a variation in the CDC45 gene.
http://purl.obolibrary.org/obo/MONDO_7770177	meningioma, wildcat	http://purl.obolibrary.org/obo/MONDO_1013719	meningioma, non-human animal		Meningioma that occurs in wildcat.
http://purl.obolibrary.org/obo/MONDO_7770178	meningioma, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Meningioma that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770179	meningioma, dog	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Meningioma that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770180	anterior segment dysgenesis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1013470	anterior segment dysgenesis, non-human animal		Anterior segment dysgenesis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770181	anterior segment dysgenesis, dog	http://purl.obolibrary.org/obo/MONDO_1013470	anterior segment dysgenesis, non-human animal		Anterior segment dysgenesis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770184	inflammatory bowel disease, pig	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Inflammatory bowel disease that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770188	corneal ulceration, dog	http://purl.obolibrary.org/obo/MONDO_1011252	keratitis, dog		Corneal ulceration that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770189	Stargardt disease, pig	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Stargardt disease 1 that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770191	paradoxical pseudomyotonia, SLC7A10-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in dog, in which the cause of the disease is a variation in the SLC7A10 gene.
http://purl.obolibrary.org/obo/MONDO_7770192	progressive retinal atrophy, GUCY2D-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy, occurring in dog, in which the cause of the disease is a variation in the GUCY2D gene.
http://purl.obolibrary.org/obo/MONDO_7770197	neuronal ceroid lipofuscinosis, TPP1-related, macaque	http://purl.obolibrary.org/obo/MONDO_1011569	neuronal ceroid lipofuscinosis, crab-eating macaque		Any neuronal ceroid lipofuscinosis, occurring in macaque, in which the cause of the disease is a variation in the TPP1 gene.
http://purl.obolibrary.org/obo/MONDO_7770200	cataract, donkey	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Cataract that occurs in donkey.
http://purl.obolibrary.org/obo/MONDO_7770203	non-epidermolytic ichthyosis, SDR9C7-related, dog	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in dog, in which the cause of the disease is a variation in the SDR9C7 gene.
http://purl.obolibrary.org/obo/MONDO_7770204	xanthinuria, XDH-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011624	xanthinuria, domestic cat		Any xanthinuria, occurring in domestic cat, in which the cause of the disease is a variation in the XDH gene.
http://purl.obolibrary.org/obo/MONDO_7770208	paroxysmal dystonia-ataxia syndrome, TNR-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the TNR gene.
http://purl.obolibrary.org/obo/MONDO_7770210	spondylolisthesis, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Spondylolisthesis that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_7770212	sebaceous gland dysplasia, SOAT1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012438	sebaceous gland dysplasia, domestic cat		Any sebaceous gland dysplasia, occurring in domestic cat, in which the cause of the disease is a variation in the SOAT1 gene.
http://purl.obolibrary.org/obo/MONDO_7770219	chronic lymphocytic leukemia, mule	http://purl.obolibrary.org/obo/MONDO_1013088	acute lymphoblastic leukemia, non-human animal		Chronic lymphocytic leukemia that occurs in mule.
http://purl.obolibrary.org/obo/MONDO_7770220	inflammatory bowel disease, horse	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Inflammatory bowel disease that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770221	elliptocytosis, dog	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Elliptocytosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770222	Fanconi syndrome, FAN1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011503	Fanconi syndrome, dog		Any Fanconi syndrome, occurring in dog, in which the cause of the disease is a variation in the FAN1 gene.
http://purl.obolibrary.org/obo/MONDO_7770223	leukodystrophy, CYTB-related, dog	http://purl.obolibrary.org/obo/MONDO_1011005	leukodystrophy, dog		Any leukodystrophy, occurring in dog, in which the cause of the disease is a variation in the CYTB gene.
http://purl.obolibrary.org/obo/MONDO_7770224	cleft lip, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Cleft lip that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770225	deficiency color vision, common marmoset	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		Deficiency color vision that occurs in common marmoset.
http://purl.obolibrary.org/obo/MONDO_7770226	deficiency color vision, macaque	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		Deficiency color vision that occurs in macaque.
http://purl.obolibrary.org/obo/MONDO_7770227	microcephaly, YIPF5-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1010066	microcephaly, non-human animal		Any microcephaly, occurring in rabbit, in which the cause of the disease is a variation in the YIPF5 gene.
http://purl.obolibrary.org/obo/MONDO_7770228	cor triatriatum sinister, goat	http://purl.obolibrary.org/obo/MONDO_1013066	cor triatriatum sinister, non-human animal		Cor triatriatum sinister that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_7770229	double-outlet right ventricle, goat	http://purl.obolibrary.org/obo/MONDO_1013067	double outlet right ventricle, non-human animal		Double-outlet right ventricle that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_7770231	congenital stationary night blindness, GRM6-related, horse	http://purl.obolibrary.org/obo/MONDO_1011975	congenital blindness, non-human animal		Any congenital blindness, occurring in horse, in which the cause of the disease is a variation in the GRM6 gene.
http://purl.obolibrary.org/obo/MONDO_7770232	achondroplasia, PRICKLE1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011149	achondroplasia, sheep		Any achondroplasia, occurring in sheep, in which the cause of the disease is a variation in the PRICKLE1 gene.
http://purl.obolibrary.org/obo/MONDO_7770236	hypercholesterolaemia, LDLR-related and MBTPS2-related, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Any metabolic disease, occurring in rhesus macaque, in which the cause of the disease is a variation in the LDLR and MBTPS2 genes.
http://purl.obolibrary.org/obo/MONDO_7770244	Waldenström macroglobulinaemia, dog	http://purl.obolibrary.org/obo/MONDO_1010948	non-hodgkin lymphoma, dog		Waldenström macroglobulinaemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770246	cleft lip and jaw, bilateral, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Cleft lip and jaw, bilateral that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770247	dilated cardiomyopathy, ABCC9-related, dog	http://purl.obolibrary.org/obo/MONDO_1010448	dilated cardiomyopathy, dog		Any dilated cardiomyopathy, occurring in dog, in which the cause of the disease is a variation in the ABCC9 gene.
http://purl.obolibrary.org/obo/MONDO_7770248	Parkinson disease, white-tufted-ear marmoset	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Parkinson disease that occurs in white-tufted-ear marmoset.
http://purl.obolibrary.org/obo/MONDO_7770250	deficiency color vision, tufted capuchin	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		Deficiency color vision that occurs in tufted capuchin.
http://purl.obolibrary.org/obo/MONDO_7770254	cone degeneration, dog	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Cone degeneration that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770255	megaoesophagus, MCHR2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any digestive system disorder, occurring in dog, in which the cause of the disease is a variation in the MCHR2 gene.
http://purl.obolibrary.org/obo/MONDO_7770256	frontonasal dysplasia, ALX1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010036	frontonasal dysplasia, non-human animal		Any frontonasal dysplasia, occurring in domestic cat, in which the cause of the disease is a variation in the ALX1 gene.
http://purl.obolibrary.org/obo/MONDO_7770259	junctional epidermolysis bullosa, ITGA6-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011547	junctionalis epidermolysis bullosa, cattle		Any junctional epidermolysis bullosa, occurring in cattle, in which the cause of the disease is a variation in the ITGA6 gene.
http://purl.obolibrary.org/obo/MONDO_7770260	alopecia, American red squirrel	http://purl.obolibrary.org/obo/MONDO_1011358	skin appendage disorder, non-human animal		Alopecia that occurs in American red squirrel.
http://purl.obolibrary.org/obo/MONDO_7770261	progressive retinal atrophy, CNGB1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy, occurring in dog, in which the cause of the disease is a variation in the CNGB1 gene.
http://purl.obolibrary.org/obo/MONDO_7770264	dwarfism, ACAN-related, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism, occurring in zebu cattle, in which the cause of the disease is a variation in the ACAN gene.
http://purl.obolibrary.org/obo/MONDO_7770266	hypomyelinating polyneuropathy, MTMR2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the MTMR2 gene.
http://purl.obolibrary.org/obo/MONDO_7770267	alopecia, white-tailed deer	http://purl.obolibrary.org/obo/MONDO_1011358	skin appendage disorder, non-human animal		Alopecia that occurs in white-tailed deer.
http://purl.obolibrary.org/obo/MONDO_7770268	progressive retinal, central, and peripheral neurodegeneration, PCYT2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Any neurodenenrative disorder, occurring in dog, in which the cause of the disease is a variation in the PCYT2 gene.
http://purl.obolibrary.org/obo/MONDO_7770270	pulmonary valve dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1013069	heart valve disorder, non-human animal		Pulmonary valve dysplasia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770271	congenital amastia, horse	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Congenital amastia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770274	cataract, green monkey	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Cataract that occurs in green monkey.
http://purl.obolibrary.org/obo/MONDO_7770275	cataract, rabbit	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Cataract that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_7770276	hypomyelinating polyneuropathy, MPZ-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the MPZ gene.
http://purl.obolibrary.org/obo/MONDO_7770277	hypomyelinating polyneuropathy, SH3TC2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the SH3TC2 gene.
http://purl.obolibrary.org/obo/MONDO_7770281	XX difference of sexual development, Japanese flounder	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XX difference of sexual development that occurs in Japanese flounder.
http://purl.obolibrary.org/obo/MONDO_7770283	obesity, macaque	http://purl.obolibrary.org/obo/MONDO_1013600	obesity disorder, non-human animal		Obesity that occurs in macaque.
http://purl.obolibrary.org/obo/MONDO_7770285	Parkinson disease, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Parkinson disease that occurs in rhesus macaque.
http://purl.obolibrary.org/obo/MONDO_7770286	Parkinson disease, pig	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Parkinson disease that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770287	autosomal dominant progressive retinal atrophy, macaque	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		Autosomal dominant progressive retinal atrophy that occurs in macaque.
http://purl.obolibrary.org/obo/MONDO_7770288	long QT syndrome, KCNQ1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any cardiovascular disorder, occurring in dog, in which the cause of the disease is a variation in the KCNQ1 gene.
http://purl.obolibrary.org/obo/MONDO_7770289	oculocutaneous albinism, TYR-related, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Any oculocutaneous albinism, occurring in rhesus macaque, in which the cause of the disease is a variation in the TYR gene.
http://purl.obolibrary.org/obo/MONDO_7770290	oculocutaneous albinism, OCA2-related, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Any oculocutaneous albinism, occurring in rhesus macaque, in which the cause of the disease is a variation in the OCA2 gene.
http://purl.obolibrary.org/obo/MONDO_7770299	hyperbilirubinaemia, SLCO1B3-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any liver disorder, occurring in sheep, in which the cause of the disease is a variation in the SLCO1B3 gene.
http://purl.obolibrary.org/obo/MONDO_7770302	hip dysplasia, roe deer	http://purl.obolibrary.org/obo/MONDO_1013075	developmental dysplasia of the hip, non-human animal		Hip dysplasia that occurs in roe deer.
http://purl.obolibrary.org/obo/MONDO_7770303	cerebellar ataxia, RALGAPA1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012957	cerebellar ataxia, dog		Any cerebellar ataxia, occurring in dog, in which the cause of the disease is a variation in the RALGAPA1 gene.
http://purl.obolibrary.org/obo/MONDO_7770307	brachygnathia, WNT10B-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in cattle, in which the cause of the disease is a variation in the WNT10B gene.
http://purl.obolibrary.org/obo/MONDO_7770313	severe combined immunodeficiency disease, IL2RG and, RAG1-related, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1011422	severe combined immunodeficiency disease, non-human animal		Any severe combined immunodeficiency disease, occurring in macaque, in which the cause of the disease is a variation in the  IL2RG and RAG1 genes.
http://purl.obolibrary.org/obo/MONDO_7770316	epidermolytic hyperkeratosis, walrus	http://purl.obolibrary.org/obo/MONDO_1011427	ichthyosis, non-human animal		Epidermolytic hyperkeratosis that occurs in walrus.
http://purl.obolibrary.org/obo/MONDO_7770317	deficiency color vision, medaka	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		Deficiency color vision that occurs in medaka.
http://purl.obolibrary.org/obo/MONDO_7770323	hypercholesterolaemia, macaque	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Hypercholesterolaemia that occurs in macaque.
http://purl.obolibrary.org/obo/MONDO_7770324	frontotemporal dementia, macaque	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Frontotemporal dementia that occurs in macaque.
http://purl.obolibrary.org/obo/MONDO_7770325	T cell deficiency, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		T cell deficiency that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_7770326	cor triatriatum sinister, pig	http://purl.obolibrary.org/obo/MONDO_1013066	cor triatriatum sinister, non-human animal		Cor triatriatum sinister that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770328	persistent mullerian duct syndrome, AMHR2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011122	persistent Mullerian duct syndrome, dog		Any persistent Mullerian duct syndrome, occurring in dog, in which the cause of the disease is a variation in the AMHR2 gene.
http://purl.obolibrary.org/obo/MONDO_7770329	sex chromosome difference of sexual development, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770330	XY difference of sexual development, HSD17B3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012714	XY difference of sexual development, dog		Any XY difference of sexual development, occurring in dog, in which the cause of the disease is a variation in the HSD17B3 gene.
http://purl.obolibrary.org/obo/MONDO_7770331	difference of sexual development, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Difference of sexual development that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_7770332	difference of sexual development, tongue sole	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Difference of sexual development that occurs in tongue sole.
http://purl.obolibrary.org/obo/MONDO_7770333	XY sex reversal, medaka	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XY sex reversal that occurs in medaka.
http://purl.obolibrary.org/obo/MONDO_7770334	XY sex reversal, pig	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XY sex reversal that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770335	XY sex reversal, sheep	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XY sex reversal that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_7770336	sex chromosome difference of sexual development, wood lemming	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in wood lemming.
http://purl.obolibrary.org/obo/MONDO_7770337	sex chromosome difference of sexual development, horse	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770338	sex chromosome difference of sexual development, cattle	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770339	sex chromosome difference of sexual development, sheep	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_7770340	difference of sexual development, mule	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Difference of sexual development that occurs in mule.
http://purl.obolibrary.org/obo/MONDO_7770341	sex chromosome difference of sexual development, gray short-tailed opossum	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in gray short-tailed opossum.
http://purl.obolibrary.org/obo/MONDO_7770342	sex chromosome difference of sexual development, alpaca	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in alpaca.
http://purl.obolibrary.org/obo/MONDO_7770343	sex chromosome difference of sexual development, water buffalo	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in water buffalo.
http://purl.obolibrary.org/obo/MONDO_7770344	sex chromosome difference of sexual development, pig	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770345	XX sex reversal, pig	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XX sex reversal that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770346	sex chromosome difference of sexual development, goat	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_7770347	XY difference of sexual development, cattle	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XY difference of sexual development that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770348	sex chromosome difference of sexual development, dog	http://purl.obolibrary.org/obo/MONDO_7770429	difference of sexual development, wolf		Sex chromosome difference of sexual development that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770350	spastic ataxia, SACS-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the SACS gene.
http://purl.obolibrary.org/obo/MONDO_7770351	congenital partial colonic agenesis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Congenital partial colonic agenesis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770352	congenital partial colonic agenesis, dog	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Congenital partial colonic agenesis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770353	congenital partial colonic agenesis, horse	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		Congenital partial colonic agenesis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770356	dens evaginatus, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Dens evaginatus that occurs in rhesus macaque.
http://purl.obolibrary.org/obo/MONDO_7770357	spinal muscular atrophy, pig	http://purl.obolibrary.org/obo/MONDO_1010235	spinal muscular atrophy, non-human animal		Spinal muscular atrophy that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770363	uveodermatological syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1013754	uveitis, non-human animal		Uveodermatological syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770364	male subfertility, AK9-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Any reproductive system disorder, occurring in cattle, in which the cause of the disease is a variation in the AK9 gene.
http://purl.obolibrary.org/obo/MONDO_7770367	congenital adrenal hyperplasia, common carp	http://purl.obolibrary.org/obo/MONDO_1010050	congenital adrenal hyperplasia, non-human animal		Adrenal hyperplasia, congenital that occurs in common carp.
http://purl.obolibrary.org/obo/MONDO_7770372	dentinogenesis imperfecta, dog	http://purl.obolibrary.org/obo/MONDO_1013389	tooth disorder, non-human animal		Dentinogenesis imperfecta that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770373	junctionalis epidermolysis bullosa, COL17A1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011549	junctionalis epidermolysis bullosa, domestic cat		Any junctionalis epidermolysis bullosa, occurring in domestic cat, in which the cause of the disease is a variation in the COL17A1 gene.
http://purl.obolibrary.org/obo/MONDO_7770375	dilated cardiomyopathy, LMNA-related, dog	http://purl.obolibrary.org/obo/MONDO_1010448	dilated cardiomyopathy, dog		Any dilated cardiomyopathy, occurring in dog, in which the cause of the disease is a variation in the LMNA gene.
http://purl.obolibrary.org/obo/MONDO_7770379	XX difference of sexual development, guppy	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XX difference of sexual development that occurs in guppy.
http://purl.obolibrary.org/obo/MONDO_7770380	polyendocrine syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Polyendocrine syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770394	Parkinson disease, medaka	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Parkinson disease that occurs in medaka.
http://purl.obolibrary.org/obo/MONDO_7770395	Parkinson disease, turquoise killifish	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Parkinson disease that occurs in turquoise killifish.
http://purl.obolibrary.org/obo/MONDO_7770397	diaphragmatic hernia, alpaca	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Diaphragmatic hernia that occurs in alpaca.
http://purl.obolibrary.org/obo/MONDO_7770401	anencephaly/exencephaly, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011308	congenital nervous system disorder, non-human animal		Anencephaly/exencephaly that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770403	anencephaly/exencephaly, brown bear	http://purl.obolibrary.org/obo/MONDO_1011308	congenital nervous system disorder, non-human animal		Anencephaly/exencephaly that occurs in brown bear.
http://purl.obolibrary.org/obo/MONDO_7770404	atresia intestinal, domestic cat	http://purl.obolibrary.org/obo/MONDO_1013419	intestinal atresia, non-human animal		Atresia intestinal that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770408	autosomal dominant progressive retinal atrophy, pig	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		Autosomal dominant progressive retinal atrophy that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770411	multiple ocular defects, COL11A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any disorder of visual system, occurring in dog, in which the cause of the disease is a variation in the COL11A1 gene.
http://purl.obolibrary.org/obo/MONDO_7770412	polioencephalopathy, MECR-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the MECR gene.
http://purl.obolibrary.org/obo/MONDO_7770414	cutaneous mastocytosis, dog	http://purl.obolibrary.org/obo/MONDO_1013150	skin neoplasm, non-human animal		Cutaneous mastocytosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770415	auditory-pigmentary syndrome, PAX3-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in domestic cat, in which the cause of the disease is a variation in the PAX3 gene.
http://purl.obolibrary.org/obo/MONDO_7770417	muscle weakness, CACNA1S-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in cattle, in which the cause of the disease is a variation in the CACNA1S gene.
http://purl.obolibrary.org/obo/MONDO_7770418	inflammatory bowel disease, maned wolf	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Inflammatory bowel disease that occurs in maned wolf.
http://purl.obolibrary.org/obo/MONDO_7770419	cystinuria, maned wolf	http://purl.obolibrary.org/obo/MONDO_1012968	cystinuria, non-human animal		Cystinuria that occurs in maned wolf.
http://purl.obolibrary.org/obo/MONDO_7770423	uterine aplasia, rabbit	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Uterine aplasia that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_7770424	uterine aplasia, cattle	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Uterine aplasia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770425	uterine aplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Uterine aplasia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770426	uterine aplasia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Uterine aplasia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770427	uterine aplasia, horse	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Uterine aplasia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770428	uterine aplasia, alpaca	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Uterine aplasia that occurs in alpaca.
http://purl.obolibrary.org/obo/MONDO_7770430	tricuspid valve atresia, horse	http://purl.obolibrary.org/obo/MONDO_1013227	tricuspid valve disorder, non-human animal		Tricuspid valve atresia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770442	neuronal ceroid lipofuscinosis, 3, CLN3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011568	neuronal ceroid lipofuscinosis, cattle		Any neuronal ceroid lipofuscinosis, occurring in cattle, in which the cause of the disease is a variation in the CLN3 gene.
http://purl.obolibrary.org/obo/MONDO_7770443	male subfertility, pig	http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal		Male subfertility that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770445	dilated cardiomyopathy, LMNA-related, macaque	http://purl.obolibrary.org/obo/MONDO_1010011	dilated cardiomyopathy, non-human animal		Any dilated cardiomyopathy, occurring in macaque, in which the cause of the disease is a variation in the LMNA gene.
http://purl.obolibrary.org/obo/MONDO_7770447	spondyloepiphyseal dysplasia tarda, medaka	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Spondyloepiphyseal dysplasia tarda that occurs in medaka.
http://purl.obolibrary.org/obo/MONDO_7770448	immunodeficiency, CARMIL2-related, dog	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		Any respiratory system disorder, occurring in dog, in which the cause of the disease is a variation in the CARMIL2 gene.
http://purl.obolibrary.org/obo/MONDO_7770453	atresia ani, dog	http://purl.obolibrary.org/obo/MONDO_1013012	imperforate anus, non-human animal		Atresia ani that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770454	pontocerebellar hypoplasia, AMPD2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the AMPD2 gene.
http://purl.obolibrary.org/obo/MONDO_7770456	Leigh syndrome, NDUFS7-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the NDUFS7 gene.
http://purl.obolibrary.org/obo/MONDO_7770457	prognathism, European seabass	http://purl.obolibrary.org/obo/MONDO_1011310	developmental defect during embryogenesis, non-human animal		Prognathism that occurs in European seabass.
http://purl.obolibrary.org/obo/MONDO_7770464	inflammatory bowel disease, guinea pig	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Inflammatory bowel disease that occurs in guinea pig.
http://purl.obolibrary.org/obo/MONDO_7770465	inflammatory bowel disease, rabbit	http://purl.obolibrary.org/obo/MONDO_1013080	inflammatory bowel disease, non-human animal		Inflammatory bowel disease that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_7770467	microphthalmia with hematopoietic defects, DNAJC21-related, dog	http://purl.obolibrary.org/obo/MONDO_1011238	microphthalmia, dog		Any microphthalmia, occurring in dog, in which the cause of the disease is a variation in the DNAJC21 gene.
http://purl.obolibrary.org/obo/MONDO_7770468	spermatogenic failure, QRICH2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Any reproductive system disorder, occurring in cattle, in which the cause of the disease is a variation in the QRICH2 gene.
http://purl.obolibrary.org/obo/MONDO_7770469	methylmalonic-coA mutase deficiency, MMUT-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any hereditary disease, occurring in sheep, in which the cause of the disease is a variation in the MMUT gene.
http://purl.obolibrary.org/obo/MONDO_7770481	neuronal ceroid lipofuscinosis, 7, MFSD8-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Any neuronal ceroid lipofuscinosis, occurring in rabbit, in which the cause of the disease is a variation in the MFSD8 gene.
http://purl.obolibrary.org/obo/MONDO_7770484	hypoxanthine guanine phosphoribosyltransferase deficiency, rabbit	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Hypoxanthine guanine phosphoribosyltransferase deficiency that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_7770493	sex chromosome difference of sexual development, donkey	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in donkey.
http://purl.obolibrary.org/obo/MONDO_7770494	sex chromosome difference of sexual development, Przewalski's horse	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in Przewalski's horse.
http://purl.obolibrary.org/obo/MONDO_7770495	GM2 gangliosidosis, HEXA-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010843	gangliosidosis, cattle		Any gangliosidosis, occurring in cattle, in which the cause of the disease is a variation in the HEXA gene.
http://purl.obolibrary.org/obo/MONDO_7770498	chondrodysplasia, American black bear	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Chondrodysplasia that occurs in American black bear.
http://purl.obolibrary.org/obo/MONDO_7770499	prognathism, mule	http://purl.obolibrary.org/obo/MONDO_1011310	developmental defect during embryogenesis, non-human animal		Prognathism that occurs in mule.
http://purl.obolibrary.org/obo/MONDO_7770500	hypohidrotic ectodermal dysplasia, X-linked, EDA-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012576	hypohidrotic ectodermal dysplasia, non-human animal		Any hypohidrotic ectodermal dysplasia, occurring in domestic cat, in which the cause of the disease is a variation in the EDA gene.
http://purl.obolibrary.org/obo/MONDO_7770501	haplotype with homozygous deficiency, SLC33A1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any hereditary disease, occurring in sheep, in which the cause of the disease is a variation in the SLC33A1 gene.
http://purl.obolibrary.org/obo/MONDO_7770502	neuronal ceroid lipofuscinosis, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Neuronal ceroid lipofuscinosis, 12 that occurs in rhesus macaque.
http://purl.obolibrary.org/obo/MONDO_7770504	left ventricular noncompaction cardiomyopathy, Japanese macaque	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Left ventricular noncompaction cardiomyopathy that occurs in Japanese macaque.
http://purl.obolibrary.org/obo/MONDO_7770505	cerebral palsy, RHOB-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in rabbit, in which the cause of the disease is a variation in the RHOB gene.
http://purl.obolibrary.org/obo/MONDO_7770507	ichthyosis, DSP-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Any ichthyosis, occurring in dog, in which the cause of the disease is a variation in the DSP gene.
http://purl.obolibrary.org/obo/MONDO_7770508	Arnold-Chiari malformation, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1012741	Chiari-like malformation, dog		Arnold-chiari malformation that occurs in zebu cattle.
http://purl.obolibrary.org/obo/MONDO_7770509	paroxysmal dyskinesia, PCK2-related, dog	http://purl.obolibrary.org/obo/MONDO_1010422	paroxysmal dyskinesia, dog		Any paroxysmal dyskinesia, occurring in dog, in which the cause of the disease is a variation in the PCK2 gene.
http://purl.obolibrary.org/obo/MONDO_7770511	myelodysplastic syndrome, dog	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Myelodysplastic syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770512	myelodysplastic syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Myelodysplastic syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770513	lymphocyte intestinal retention defect, ITGB7-related, cattle	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Any immune system disorder, occurring in cattle, in which the cause of the disease is a variation in the ITGB7 gene.
http://purl.obolibrary.org/obo/MONDO_7770514	haplotype with homozygous deficiency, RFC5-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any hereditary disease, occurring in cattle, in which the cause of the disease is a variation in the RFC5 gene.
http://purl.obolibrary.org/obo/MONDO_7770515	haplotype with homozygous deficiency, NOA1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any disorder of visual system, occurring in cattle, in which the cause of the disease is a variation in the NOA1 gene.
http://purl.obolibrary.org/obo/MONDO_7770516	neuroaxonal dystrophy, RNF170-related, dog	http://purl.obolibrary.org/obo/MONDO_1011561	neuroaxonal dystrophy, dog		Any neuroaxonal dystrophy, occurring in dog, in which the cause of the disease is a variation in the RNF170 gene.
http://purl.obolibrary.org/obo/MONDO_7770517	diabetes mellitus, HNF1A-related, pig	http://purl.obolibrary.org/obo/MONDO_1010577	diabetes mellitus, pig		Any diabetes mellitus, occurring in pig, in which the cause of the disease is a variation in the HNF1A gene.
http://purl.obolibrary.org/obo/MONDO_7770519	Arnold-Chiari malformation, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012741	Chiari-like malformation, dog		Arnold-chiari malformation that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770521	long QT syndrome, CACNA1C-related, pig	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any cardiovascular disorder, occurring in pig, in which the cause of the disease is a variation in the CACNA1C gene.
http://purl.obolibrary.org/obo/MONDO_7770522	male subfertility, Nile tilapia	http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal		Male subfertility that occurs in Nile tilapia.
http://purl.obolibrary.org/obo/MONDO_7770524	microcephaly, ferret	http://purl.obolibrary.org/obo/MONDO_1010066	microcephaly, non-human animal		Microcephaly that occurs in ferret.
http://purl.obolibrary.org/obo/MONDO_7770525	Woodhouse-Sakati syndrome, Dcaf17-related, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Any reproductive system disorder, occurring in golden hamster, in which the cause of the disease is a variation in the Dcaf17 gene.
http://purl.obolibrary.org/obo/MONDO_7770528	pancreatic agenesis, macaque	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Pancreatic agenesis that occurs in macaque.
http://purl.obolibrary.org/obo/MONDO_7770532	XX difference of sexual development, cattle	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XX difference of sexual development that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770535	hip dysplasia, horse	http://purl.obolibrary.org/obo/MONDO_1013075	developmental dysplasia of the hip, non-human animal		Hip dysplasia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770536	male subfertility, cattle	http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal		Male subfertility that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770545	tricuspid valve dysplasia, ferret	http://purl.obolibrary.org/obo/MONDO_1013227	tricuspid valve disorder, non-human animal		Tricuspid valve dysplasia that occurs in ferret.
http://purl.obolibrary.org/obo/MONDO_7770546	pontocerebellar hypoplasia, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011310	developmental defect during embryogenesis, non-human animal		Pontocerebellar hypoplasia that occurs in zebu cattle.
http://purl.obolibrary.org/obo/MONDO_7770551	Sjogren syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1013381	salivary gland disorder, non-human animal		Sjogren syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770552	Sjogren syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1013381	salivary gland disorder, non-human animal		Sjogren syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770555	Stargardt disease, fat sand rat	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Stargardt disease 1 that occurs in fat sand rat.
http://purl.obolibrary.org/obo/MONDO_7770556	ciliopathy, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Ciliopathy that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_7770557	cardiac malformation, BRI3BP-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any cardiovascular disorder, occurring in cattle, in which the cause of the disease is a variation in the BRI3BP gene.
http://purl.obolibrary.org/obo/MONDO_7770558	cystic microphthalmia, horse	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Cystic microphthalmia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770559	cystic microphthalmia, dog	http://purl.obolibrary.org/obo/MONDO_1011238	microphthalmia, dog		Cystic microphthalmia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770560	congenital cystic eye, horse	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Congenital cystic eye that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770561	hemochromatosis, dog	http://purl.obolibrary.org/obo/MONDO_1013688	hemosiderosis, non-human animal		Hemochromatosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770562	oculocutaneous albinism, medaka	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in medaka.
http://purl.obolibrary.org/obo/MONDO_7770563	male subfertility, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal		Male subfertility that occurs in zebu cattle.
http://purl.obolibrary.org/obo/MONDO_7770564	male subfertility, cheetah	http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal		Male subfertility that occurs in cheetah.
http://purl.obolibrary.org/obo/MONDO_7770565	Charcot-Marie-Tooth disease, ITPR3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011007	peripheral neuropathy, dog		Any Charcot-Marie-Tooth disease, occurring in dog, in which the cause of the disease is a variation in the ITPR3 gene.
http://purl.obolibrary.org/obo/MONDO_7770570	conjoined twinning, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Conjoined twinning that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_7770572	precocious puberty, rabbit	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		Precocious puberty that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_7770574	ataxia with isolated vitamin E deficiency, TTPA-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any disorder of visual system, occurring in dog, in which the cause of the disease is a variation in the TTPA gene.
http://purl.obolibrary.org/obo/MONDO_7770575	muscular dystrophy, goat	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Muscular dystrophy that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_7770577	anhidrosis, horse	http://purl.obolibrary.org/obo/MONDO_1013641	anhidrosis, non-human animal		Anhidrosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770578	progressive retinal atrophy, GTPBP2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy, occurring in dog, in which the cause of the disease is a variation in the GTPBP2 gene.
http://purl.obolibrary.org/obo/MONDO_7770580	nephronophthisis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		Nephronophthisis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770581	nephronophthisis, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Nephronophthisis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770582	stomatocytosis, dog	http://purl.obolibrary.org/obo/MONDO_1012981	anemia, non-human animal		Stomatocytosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770583	XY difference of sexual development, goat	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XY difference of sexual development that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_7770584	aortic valve stenosis, dog	http://purl.obolibrary.org/obo/MONDO_1013014	aortic valve stenosis, non-human animal		Aortic valve stenosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770586	left ventricular noncompaction cardiomyopathy, guinea pig	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Left ventricular noncompaction cardiomyopathy that occurs in guinea pig.
http://purl.obolibrary.org/obo/MONDO_7770587	junctionalis epidermolysis bullosa, LAMB3-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011426	junctionalis epidermolysis bullosa , non-human animal		Any junctionalis epidermolysis bullosa , occurring in sheep, in which the cause of the disease is a variation in the LAMB3 gene.
http://purl.obolibrary.org/obo/MONDO_7770590	mucopolysaccharidosis I, Japanese macaque	http://purl.obolibrary.org/obo/MONDO_1013675	mucopolysaccharidosis, non-human animal		Mucopolysaccharidosis I that occurs in Japanese macaque.
http://purl.obolibrary.org/obo/MONDO_7770591	epileptic encephalopathy, CAD-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in domestic cat, in which the cause of the disease is a variation in the CAD gene.
http://purl.obolibrary.org/obo/MONDO_7770594	cataract, dog	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Cataract that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770596	obesity, sheep	http://purl.obolibrary.org/obo/MONDO_1013600	obesity disorder, non-human animal		Obesity that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_7770598	agenesis of corpus callosum, sheep	http://purl.obolibrary.org/obo/MONDO_1011308	congenital nervous system disorder, non-human animal		Agenesis of corpus callosum that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_7770600	progressive retinal atrophy, JPH2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy, occurring in dog, in which the cause of the disease is a variation in the JPH2 gene.
http://purl.obolibrary.org/obo/MONDO_7770602	hypogonadism, rln3b-related, Nile tilapia	http://purl.obolibrary.org/obo/MONDO_1010276	hypogonadism, non-human animal		Any hypogonadism, occurring in Nile tilapia, in which the cause of the disease is a variation in the rln3b gene.
http://purl.obolibrary.org/obo/MONDO_7770604	congenital adrenal hyperplasia, medaka	http://purl.obolibrary.org/obo/MONDO_1010050	congenital adrenal hyperplasia, non-human animal		Congenital adrenal hyperplasia that occurs in medaka.
http://purl.obolibrary.org/obo/MONDO_7770606	mitochondrial DNA depletion syndrome, Nile tilapia	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Mitochondrial DNA depletion syndrome that occurs in Nile tilapia.
http://purl.obolibrary.org/obo/MONDO_7770608	autosomal dominant hypertrophic cardiomyopathy, MYBPC3-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010442	cardiomyopathy, domestic cat		Any autosomal dominant cardiomyopathy, occurring in domestic cat, in which the cause of the disease is a variation in the MYBPC3 gene.
http://purl.obolibrary.org/obo/MONDO_7770609	autosomal recessive hypertrophic cardiomyopathy, MYBPC3-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010442	cardiomyopathy, domestic cat		Any autosomal recessive cardiomyopathy, occurring in domestic cat, in which the cause of the disease is a variation in the MYBPC3 gene.
http://purl.obolibrary.org/obo/MONDO_7770610	hypertrophic cardiomyopathy, MYH6-related, pig	http://purl.obolibrary.org/obo/MONDO_1010460	hypertrophic cardiomyopathy, pig		Any hypertrophic cardiomyopathy, occurring in pig, in which the cause of the disease is a variation in the MYH6 gene.
http://purl.obolibrary.org/obo/MONDO_7770613	anophthalmia/microphthalmia, gja8b-related, Mexican tetra	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any disorder of visual system, occurring in Mexican tetra, in which the cause of the disease is a variation in the gja8b gene.
http://purl.obolibrary.org/obo/MONDO_7770614	rhizomelic chondrodysplasia punctata, GNPAT-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in cattle, in which the cause of the disease is a variation in the GNPAT gene.
http://purl.obolibrary.org/obo/MONDO_7770615	cor triatriatum sinister, domestic cat	http://purl.obolibrary.org/obo/MONDO_1013066	cor triatriatum sinister, non-human animal		Cor triatriatum sinister that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_7770618	REM sleep behaviour disorder, FAM8A1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in domestic cat, in which the cause of the disease is a variation in the FAM8A1 gene.
http://purl.obolibrary.org/obo/MONDO_7770620	hyperoxaluria, koala	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Hyperoxaluria that occurs in koala.
http://purl.obolibrary.org/obo/MONDO_7770622	thrombocytopenia, DUT-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1010080	thrombocytopenia, non-human animal		Any thrombocytopenia, occurring in rabbit, in which the cause of the disease is a variation in the DUT gene.
http://purl.obolibrary.org/obo/MONDO_7770624	intestinal volvulus, pig	http://purl.obolibrary.org/obo/MONDO_1013392	intestinal obstruction, non-human animal		Intestinal volvulus that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770625	synchronic limb movement, EFNB3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any nervous system disorder, occurring in dog, in which the cause of the disease is a variation in the EFNB3 gene.
http://purl.obolibrary.org/obo/MONDO_7770626	Parkinson disease, macaque	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Parkinson disease that occurs in macaque.
http://purl.obolibrary.org/obo/MONDO_7770628	agenesis of corpus callosum, goat	http://purl.obolibrary.org/obo/MONDO_1011308	congenital nervous system disorder, non-human animal		Agenesis of corpus callosum that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_7770629	plasminogen activator inhibitor-1 deficiency, SERPINE1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any hematologic disorder, occurring in dog, in which the cause of the disease is a variation in the SERPINE1 gene.
http://purl.obolibrary.org/obo/MONDO_7770634	hypercholesterolaemia, LDLR-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Any metabolic disease, occurring in domestic cat, in which the cause of the disease is a variation in the LDLR gene.
http://purl.obolibrary.org/obo/MONDO_7770637	congenital heart defect, macaque	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Congenital heart defect that occurs in macaque.
http://purl.obolibrary.org/obo/MONDO_7770638	rhizomelic chondrodysplasia punctata, cattle	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Rhizomelic chondrodysplasia punctata that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770640	congenital heart defect, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Congenital heart defect that occurs in zebu cattle.
http://purl.obolibrary.org/obo/MONDO_7770641	combined lipase deficiency, LMF1-related, horse	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Any metabolic disease, occurring in horse, in which the cause of the disease is a variation in the LMF1 gene.
http://purl.obolibrary.org/obo/MONDO_7770642	xanthomatosis, yellow-footed rock-wallaby	http://purl.obolibrary.org/obo/MONDO_1013691	xanthomatosis, non-human animal		Xanthomatosis that occurs in yellow-footed rock-wallaby.
http://purl.obolibrary.org/obo/MONDO_7770644	oculocutaneous albinism, red-necked wallaby	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in red-necked wallaby.
http://purl.obolibrary.org/obo/MONDO_7770645	XX difference of sexual development, eastern gray kangaroo	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XX difference of sexual development that occurs in eastern gray kangaroo.
http://purl.obolibrary.org/obo/MONDO_7770646	XX difference of sexual development, red kangaroo	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XX difference of sexual development that occurs in red kangaroo.
http://purl.obolibrary.org/obo/MONDO_7770647	sex chromosome trisomy, XXY, Agile wallaby	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Aneuploidy, trisomy, sex chromosome XXY that occurs in Agile wallaby.
http://purl.obolibrary.org/obo/MONDO_7770648	auditory-pigmentary syndrome, GRID1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in cattle, in which the cause of the disease is a variation in the GRID1 gene.
http://purl.obolibrary.org/obo/MONDO_7770653	oculocutaneous albinism, cane toad	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Oculocutaneous albinism that occurs in cane toad.
http://purl.obolibrary.org/obo/MONDO_7770655	polyglucosan body myopathy, RBCK1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		Any metabolic disease, occurring in dog, in which the cause of the disease is a variation in the RBCK1 gene.
http://purl.obolibrary.org/obo/MONDO_7770681	XY difference of sexual development, wood lemming	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		XY difference of sexual development that occurs in wood lemming.
http://purl.obolibrary.org/obo/MONDO_7770683	polyploidy, cattle	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		Polyploidy that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770684	polyploidy, goat	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		Polyploidy that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_7770685	polyploidy, pig	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		Polyploidy that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770686	polyploidy, rabbit	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		Polyploidy that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_7770687	polyploidy, sheep	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		Polyploidy that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_7770688	sex chromosome difference of sexual development, mouflon	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in mouflon.
http://purl.obolibrary.org/obo/MONDO_7770689	sex chromosome difference of sexual development, bighorn sheep	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in bighorn sheep.
http://purl.obolibrary.org/obo/MONDO_7770690	sex chromosome difference of sexual development, argali	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Sex chromosome difference of sexual development that occurs in argali.
http://purl.obolibrary.org/obo/MONDO_7770692	ichthyosis, ALOXE3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012978	ichthyosis, dog		Any ichthyosis, occurring in dog, in which the cause of the disease is a variation in the ALOXE3 gene.
http://purl.obolibrary.org/obo/MONDO_7770693	achondrogenesis, COL2A1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in sheep, in which the cause of the disease is a variation in the COL2A1 gene.
http://purl.obolibrary.org/obo/MONDO_7770694	osteogenesis imperfecta, COL1A2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011580	osteogenesis imperfecta, cattle		Any osteogenesis imperfecta, occurring in cattle, in which the cause of the disease is a variation in the COL1A2 gene.
http://purl.obolibrary.org/obo/MONDO_7770695	primordial disproportionate dwarfism with craniofacial dysmorphism, PDGFRA-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any dwarfism, occurring in cattle, in which the cause of the disease is a variation in the PDGFRA gene.
http://purl.obolibrary.org/obo/MONDO_7770696	primordial disproportionate dwarfism, PRDM10-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in cattle, in which the cause of the disease is a variation in the PRDM10 gene.
http://purl.obolibrary.org/obo/MONDO_7770697	osteogenesis imperfecta, COL1A1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011583	osteogenesis imperfecta, sheep		Any osteogenesis imperfecta, occurring in sheep, in which the cause of the disease is a variation in the COL1A1 gene.
http://purl.obolibrary.org/obo/MONDO_7770699	caudal and thoracic vertebral and viscerocranial malformation, SLC40A1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in cattle, in which the cause of the disease is a variation in the SLC40A1 gene.
http://purl.obolibrary.org/obo/MONDO_7770704	hemifacial microsomia, cattle	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Hemifacial microsomia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770706	cerebellar abiotrophy, CACNA2D2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012041	cerebellar abiotrophy, cattle		Any cerebellar abiotrophy, occurring in cattle, in which the cause of the disease is a variation in the CACNA2D2 gene.
http://purl.obolibrary.org/obo/MONDO_7770707	autosomal monosomy, cattle	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		Aneuploidy, monosomy, autosomal that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_7770708	sex chromosome monosomy, pig	http://purl.obolibrary.org/obo/MONDO_7770344	sex chromosome difference of sexual development, pig		Aneuploidy, monosomy, sex chromosome that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770710	sex chromosome monosomy, donkey	http://purl.obolibrary.org/obo/MONDO_7770493	sex chromosome difference of sexual development, donkey		Aneuploidy, monosomy, sex chromosome that occurs in donkey.
http://purl.obolibrary.org/obo/MONDO_7770711	cone-rod dystrophy retinal atrophy, SPATA7-related, dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any cone-rod dystrophy, occurring in dog, in which the cause of the disease is a variation in the SPATA7 gene.
http://purl.obolibrary.org/obo/MONDO_7770714	sex chromosome trisomy, XXX, alpaca	http://purl.obolibrary.org/obo/MONDO_1013653	infertility disorder, non-human animal		Aneuploidy, trisomy, sex chromosome XXX that occurs in alpaca.
http://purl.obolibrary.org/obo/MONDO_7770715	progeroid syndrome, naked mole-rat	http://purl.obolibrary.org/obo/MONDO_1011350	premature aging syndrome, non-human animal		Progeroid syndrome that occurs in naked mole-rat.
http://purl.obolibrary.org/obo/MONDO_7770716	congenital heart defect, blue-and-yellow macaw	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Congenital heart defect that occurs in blue-and-yellow macaw.
http://purl.obolibrary.org/obo/MONDO_7770720	ichthyosis, ABCA12-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011427	ichthyosis, non-human animal		Any ichthyosis, occurring in domestic cat, in which the cause of the disease is a variation in the ABCA12 gene.
http://purl.obolibrary.org/obo/MONDO_7770721	deafness, LHFPL5-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any auditory system disorder, occurring in domestic cat, in which the cause of the disease is a variation in the LHFPL5 gene.
http://purl.obolibrary.org/obo/MONDO_7770725	ectodermal dysplasia, edaradd-related, mangrove rivulus	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any musculoskeletal system disorder, occurring in mangrove rivulus, in which the cause of the disease is a variation in the edaradd gene.
http://purl.obolibrary.org/obo/MONDO_7770726	perinatal lethality, EGFR-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any hereditary disease, occurring in cattle, in which the cause of the disease is a variation in the EGFR gene.
http://purl.obolibrary.org/obo/MONDO_7770727	prognathism, sheep	http://purl.obolibrary.org/obo/MONDO_1011310	developmental defect during embryogenesis, non-human animal		Prognathism that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_7770728	paw pad hyperkeratosis, GJB6-related, dog	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in dog, in which the cause of the disease is a variation in the GJB6 gene.
http://purl.obolibrary.org/obo/MONDO_7770729	curly coat, KRT25-related, horse	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		Any integumentary system disorder, occurring in horse, in which the cause of the disease is a variation in the KRT25 gene.
http://purl.obolibrary.org/obo/MONDO_7770734	Fanconi anemia, pig	http://purl.obolibrary.org/obo/MONDO_1013010	aplastic anemia, non-human animal		Fanconi anemia that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_7770735	osteogenesis imperfecta, BMP1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011582	osteogenesis imperfecta, domestic cat		Any osteogenesis imperfecta, occurring in domestic cat, in which the cause of the disease is a variation in the BMP1 gene.
http://purl.obolibrary.org/obo/MONDO_7770737	autoimmune lymphoproliferative syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1010124	autoimmune lymphoproliferative syndrome, non-human animal		Autoimmune lymphoproliferative syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_7770738	congenital esophageal achalasia, horse	http://purl.obolibrary.org/obo/MONDO_1011364	upper digestive tract disorder, non-human animal		Achalasia of the esophagus, congenital that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_7770743	cataract, American black bear	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Cataract that occurs in American black bear.
http://purl.obolibrary.org/obo/SO_0000010	protein_coding	http://purl.obolibrary.org/obo/SO_0000401	gene_attribute		A gene which, when transcribed, can be translated into a protein.
http://purl.obolibrary.org/obo/FOODON_00001304	food fermentation	http://purl.obolibrary.org/obo/FOODON_03470107	food preservation process		A fermentation process in which either carbohydrates, proteins or fats are modified through microbial, enzymatic and/or other biological process.
http://purl.obolibrary.org/obo/MONDO_0021239	urethra neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm		A neoplasm (disease) that involves the urethra.
http://purl.obolibrary.org/obo/CHEBI_140310	phenyl acetates	http://purl.obolibrary.org/obo/CHEBI_22712	benzenes		An acetate ester obtained by formal condensation of the carboxy group of acetic acid with the hydroxy group of any phenol.
http://purl.obolibrary.org/obo/CHEBI_140499	kaolinite	http://purl.obolibrary.org/obo/CHEBI_48730	aluminosilicate mineral		An aluminosilicate mineral with approximate chemical composition H<small><sub>2</sub></small>Al<small><sub>2</sub></small>Si<small><sub>2</sub></small>O<small><sub>8</sub></small>.H<small><sub>2</sub></small>O. Rocks that are rich in kaolinite are known as kaolin or china clay.
http://purl.obolibrary.org/obo/CHEBI_140503	kaolin	http://purl.obolibrary.org/obo/CHEBI_48730	aluminosilicate mineral		An aluminosilicate soft white mineral named after the hill in China (Kao-ling) from which it was mined for centuries. In its natural state kaolin is a white, soft powder consisting principally of the mineral kaolinite, and varying amounts of other minerals such as muscovite, quartz, feldspar, and anatase. It is used in the manufacture of china and porcelain and also widely used in the production of paper, rubber, paint, drying agents, and many other products.
http://purl.obolibrary.org/obo/MONDO_0024621	serous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005596	cystadenocarcinoma		A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.
http://purl.obolibrary.org/obo/MONDO_0024757	cardiovascular neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.
http://purl.obolibrary.org/obo/MONDO_0024882	secondary neoplasm	http://purl.obolibrary.org/obo/MONDO_0023370	neoplastic disease or syndrome		A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.
http://purl.obolibrary.org/obo/MONDO_0024888	mesonephric neoplasm	http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm		An epithelial neoplasm of the female reproductive system arising from mesonephric remnants.
http://purl.obolibrary.org/obo/MONDO_0037002	benign phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.
http://purl.obolibrary.org/obo/MONDO_0037003	malignant phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.
http://purl.obolibrary.org/obo/MONDO_0037251	congestive splenomegaly	http://purl.obolibrary.org/obo/MONDO_0002332	splenic disorder		A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.
http://purl.obolibrary.org/obo/MONDO_0037872	bordetellosis	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		Any disease caused by infection with organisms of the genus Bordetella.
http://purl.obolibrary.org/obo/MONDO_0040675	myofibroblastoma	http://purl.obolibrary.org/obo/MONDO_0006209	fibroblastic neoplasm		A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.
http://purl.obolibrary.org/obo/MONDO_0040699	necrotizing scleritis	http://purl.obolibrary.org/obo/MONDO_0001718	scleritis		A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.
http://purl.obolibrary.org/obo/MONDO_0044704	oropharynx squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044926	oropharyngeal carcinoma		A squamous cell carcinoma that involves the oropharynx.
http://purl.obolibrary.org/obo/MONDO_0044881	hematopoietic and lymphoid cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0002334	hematopoietic and lymphoid system neoplasm		A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.
http://purl.obolibrary.org/obo/MONDO_0044937	rectal carcinoma	http://purl.obolibrary.org/obo/MONDO_0024476	epithelial neoplasm of rectum		A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.
http://purl.obolibrary.org/obo/MONDO_0044986	lymphoid system disorder	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A disease or disorder that involves the lymphoid system.
http://purl.obolibrary.org/obo/MONDO_0045004	skeletal ligament disorder	http://purl.obolibrary.org/obo/MONDO_0045044	ligament disorder		A disease or disorder that involves the skeletal ligament.
http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A disease that has its basis in the disruption of organic acid metabolic process.
http://purl.obolibrary.org/obo/MONDO_0045045	selective IgG immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0001342	dysgammaglobulinemia		A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.
http://purl.obolibrary.org/obo/MONDO_0045048	toxemia of pregnancy	http://purl.obolibrary.org/obo/MONDO_0024664	hypertension, pregnancy-induced		A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.
http://purl.obolibrary.org/obo/MONDO_0045050	nuclear cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract (disease) that involves the lens nucleus.
http://purl.obolibrary.org/obo/MONDO_0045051	cortical cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		A cataract (disease) that involves the lens cortex.
http://purl.obolibrary.org/obo/MONDO_0056799	synovium disorder	http://purl.obolibrary.org/obo/MONDO_0002081	musculoskeletal system disorder		A disease or disorder that involves the layer of synovial tissue.
http://purl.obolibrary.org/obo/MONDO_0056802	synovial bursa disorder	http://purl.obolibrary.org/obo/MONDO_0056799	synovium disorder		A disease or disorder that involves the synovial bursa.
http://purl.obolibrary.org/obo/MONDO_0056803	sulfur metabolism disease	http://purl.obolibrary.org/obo/MONDO_0000226	mineral metabolism disease		A disease that has its basis in the disruption of sulfur compound metabolic process.
http://purl.obolibrary.org/obo/MONDO_0100010	disease of the tendon	http://purl.obolibrary.org/obo/MONDO_0003900	connective tissue disorder		A disease involving the tendon.
http://purl.obolibrary.org/obo/MONDO_0040653	autosomal recessive ocular albinism	http://purl.obolibrary.org/obo/MONDO_0017304	ocular albinism		Autosomal recessive form of ocular albinism (disease).
http://purl.obolibrary.org/obo/MONDO_0042966	inherited mitral valve disease	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0044203	foveal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Underdevelopment of the fovea centralis.
http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.
http://purl.obolibrary.org/obo/MONDO_0044872	dysautonomia	http://purl.obolibrary.org/obo/MONDO_0001292	autonomic nervous system disorder		An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.
http://purl.obolibrary.org/obo/MONDO_0044926	oropharyngeal carcinoma	http://purl.obolibrary.org/obo/MONDO_0021345	carcinoma of pharynx		Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.
http://purl.obolibrary.org/obo/MONDO_0044995	parasympathetic nervous system disorder	http://purl.obolibrary.org/obo/MONDO_0001292	autonomic nervous system disorder		A disease or disorder that involves the parasympathetic nervous system.
http://purl.obolibrary.org/obo/MONDO_0100061	PRPS1 deficiency disorder	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.
http://purl.obolibrary.org/obo/MONDO_0020731	arbovirus infection	http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease		A viral infection that is transmitted by an arthropod.
http://purl.obolibrary.org/obo/MONDO_0020761	Bowen disease of the skin	http://purl.obolibrary.org/obo/MONDO_0020760	skin squamous cell carcinoma in situ		A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.
http://purl.obolibrary.org/obo/MONDO_0020688	spinal cord ischemia	http://purl.obolibrary.org/obo/MONDO_0005098	stroke disorder		Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.
http://purl.obolibrary.org/obo/HP_0500183	Abnormal CSF carboxylic acid concentration	http://purl.obolibrary.org/obo/HP_0025454	Abnormal CSF metabolite concentration		Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.
http://purl.obolibrary.org/obo/MONDO_0400004	phrynoderma	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.
http://purl.obolibrary.org/obo/MONDO_0100120	vector-borne disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.
http://purl.obolibrary.org/obo/MONDO_0100197	parainfluenza infectious disease	http://purl.obolibrary.org/obo/MONDO_0005896	Paramyxoviridae infectious disease		A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.
http://purl.obolibrary.org/obo/MONDO_0100213	IFAP syndrome 1, with or without BRESHECK syndrome	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.
http://purl.obolibrary.org/obo/MONDO_0020804	basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020799	basal cell neoplasm		A carcinoma involving the basal cells.
http://purl.obolibrary.org/obo/MONDO_0020799	basal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.
http://purl.obolibrary.org/obo/MONDO_0020805	benign basal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0020799	basal cell neoplasm		A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0020807	ovarian sertoli-stromal cell tumor	http://purl.obolibrary.org/obo/MONDO_0021657	ovarian sex cord-stromal tumor		A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.
http://purl.obolibrary.org/obo/MONDO_0020808	testicular sertoli cell tumor	http://purl.obolibrary.org/obo/MONDO_0003125	testicular sex cord-stromal neoplasm		A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.
http://purl.obolibrary.org/obo/MONDO_0020809	benign sertoli cell tumor	http://purl.obolibrary.org/obo/MONDO_0024988	sex cord-stromal benign neoplasm		A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.
http://purl.obolibrary.org/obo/MONDO_0020813	benign testicular sertoli cell tumor	http://purl.obolibrary.org/obo/MONDO_0020809	benign sertoli cell tumor		A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.
http://purl.obolibrary.org/obo/MONDO_0024988	sex cord-stromal benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0006055	sex cord-stromal tumor		A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.
http://purl.obolibrary.org/obo/MONDO_0024227	miliaria pustulosa	http://purl.obolibrary.org/obo/MONDO_0006580	miliaria		A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.
http://purl.obolibrary.org/obo/MONDO_0024228	miliaria profunda	http://purl.obolibrary.org/obo/MONDO_0006580	miliaria		A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.
http://purl.obolibrary.org/obo/MONDO_0024229	miliaria crystallina	http://purl.obolibrary.org/obo/MONDO_0006580	miliaria		A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.
http://purl.obolibrary.org/obo/MONDO_0031219	mismatch repair cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.
http://purl.obolibrary.org/obo/MONDO_0100485	KCNH1 associated disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.
http://purl.obolibrary.org/obo/MONDO_0030378	combined oxidative phosphorylation deficiency 53	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.
http://purl.obolibrary.org/obo/MONDO_0030457	immunodeficiency 87 and autoimmunity	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.
http://purl.obolibrary.org/obo/MONDO_0030483	immunodeficiency 88	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.
http://purl.obolibrary.org/obo/MONDO_0030491	immunodeficiency 91 and hyperinflammation	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.
http://purl.obolibrary.org/obo/MONDO_0030498	immunodeficiency 92	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.
http://purl.obolibrary.org/obo/MONDO_0030519	agammaglobulinemia 9, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia		An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.
http://purl.obolibrary.org/obo/MONDO_0030528	immunodeficiency 93 and hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects.
http://purl.obolibrary.org/obo/MONDO_0030529	agammaglobulinemia 10, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia		An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.
http://purl.obolibrary.org/obo/MONDO_0100478	brain malformations with or without urinary tract defects	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
http://purl.obolibrary.org/obo/MONDO_0800103	COACH syndrome 1	http://purl.obolibrary.org/obo/MONDO_0100349	COACH syndrome		Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.
http://purl.obolibrary.org/obo/MONDO_0800134	primary immunodeficiency due to calcium channel deficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An immunodeficiency disease caused by a variation in the CRACR2A gene.
http://purl.obolibrary.org/obo/MONDO_0800135	congenital emphysematous lung disease due to Filamin A loss-of-function variant	http://purl.obolibrary.org/obo/MONDO_0017014	interstitial lung disease specific to childhood		Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.
http://purl.obolibrary.org/obo/MONDO_0800136	non-severe combined immunodeficiency due to COPG1 deficiency	http://purl.obolibrary.org/obo/MONDO_0018814	non-SCID combined immunodeficiency		Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.
http://purl.obolibrary.org/obo/MONDO_0800137	early-onset pulmonary and cutaneous vasculitis	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.
http://purl.obolibrary.org/obo/MONDO_0800138	multisystem autoimmune disease due to IKAROS gain of function	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.
http://purl.obolibrary.org/obo/MONDO_0800139	HELIOS deficiency	http://purl.obolibrary.org/obo/MONDO_0018814	non-SCID combined immunodeficiency		A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.
http://purl.obolibrary.org/obo/MONDO_0800140	ITPKB deficiency	http://purl.obolibrary.org/obo/MONDO_0018814	non-SCID combined immunodeficiency		Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.
http://purl.obolibrary.org/obo/MONDO_0800141	MAN2B2 deficiency	http://purl.obolibrary.org/obo/MONDO_0018814	non-SCID combined immunodeficiency		Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.
http://purl.obolibrary.org/obo/MONDO_0800142	chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).
http://purl.obolibrary.org/obo/MONDO_0800143	cytomegalovirus pneumonia due to NOS2 deficiency	http://purl.obolibrary.org/obo/MONDO_0024354	cytomegalovirus pneumonia		Cytomegalovirus pneumonia due to variant in the NOS2 gene.
http://purl.obolibrary.org/obo/MONDO_0800144	autoimmune pulmonary disease due to PD-1 deficiency	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.
http://purl.obolibrary.org/obo/MONDO_0800145	non-severe combined immunodeficiency due to polymerase delta deficiency	http://purl.obolibrary.org/obo/MONDO_0018814	non-SCID combined immunodeficiency		Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.
http://purl.obolibrary.org/obo/MONDO_0800146	agammaglobulinemia, autosomal recessive, due to BOB1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia		Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.
http://purl.obolibrary.org/obo/MONDO_0800147	hemophagocytic lymphohistiocytosis due to RhoG deficiency	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.
http://purl.obolibrary.org/obo/MONDO_0800148	autoinflammatory syndrome due to TBK1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.
http://purl.obolibrary.org/obo/MONDO_0800149	immunodeficiency, common variable, due to APRIL deficiency	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		Any common variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFSF13 gene.
http://purl.obolibrary.org/obo/MONDO_0810000	choroidal neovascularization	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.
http://purl.obolibrary.org/obo/MONDO_0100472	lissencephaly spectrum disorder with complex brainstem malformation	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).
http://purl.obolibrary.org/obo/MONDO_0100529	Sunflower syndrome	http://purl.obolibrary.org/obo/MONDO_0015643	photosensitive epilepsy		A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness.
http://purl.obolibrary.org/obo/MONDO_0800445	Birt-Hogg-Dube syndrome 1	http://purl.obolibrary.org/obo/MONDO_0800444	Birt-Hogg-Dube syndrome		Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.
http://purl.obolibrary.org/obo/MONDO_0800446	bleeding diathesis due to thromboxane synthesis deficiency	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).
http://purl.obolibrary.org/obo/MONDO_0800455	Birt-Hogg-Dube syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800444	Birt-Hogg-Dube syndrome		Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.
http://purl.obolibrary.org/obo/CHEBI_228364	NMR chemical shift reference compound	http://purl.obolibrary.org/obo/CHEBI_747204	reference compound		Any compound that produces a peak used as reference frequency in the δ chemical shift scale.
http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.
http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.
http://purl.obolibrary.org/obo/MONDO_0100540	GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.
http://purl.obolibrary.org/obo/MONDO_0100556	PRRT2-associated paroxysmal movement disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes.
http://purl.obolibrary.org/obo/MONDO_0700268	BRCA1-related cancer predisposition	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described.
http://purl.obolibrary.org/obo/MONDO_0100559	ALG14-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins.
http://purl.obolibrary.org/obo/MONDO_0100563	digenic alpha thalassemia spectrum	http://purl.obolibrary.org/obo/MONDO_0011399	alpha thalassemia spectrum		An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0100569	ACD-related short telomere syndrome	http://purl.obolibrary.org/obo/MONDO_0800469	ACD-related telomere biology disorder		A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.
http://purl.obolibrary.org/obo/MONDO_0100571	CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.
http://purl.obolibrary.org/obo/MONDO_0800485	AKT3-related overgrowth spectrum	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene.
http://purl.obolibrary.org/obo/MONDO_1012583	ametapodia-1, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Any ametopodia that occurs in chickens with dominant inheritance.
http://purl.obolibrary.org/obo/MONDO_1012584	arachnomelia syndrome, SUOX-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012955	arachnomelia syndrome, non-human animal		Any arachnomelia syndrome that occurs in cattle due to a mutation in the SUOX gene.
http://purl.obolibrary.org/obo/MONDO_1012674	centronuclear myopathy, HACD1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012963	centronuclear myopathy, non-human animal		Any centronuclear myopathy that occurs in dogs due to a mutation in the HACD1 gene.
http://purl.obolibrary.org/obo/MONDO_1012706	arachnomelia syndrome, MOCS1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012955	arachnomelia syndrome, non-human animal		Any arachnomelia syndrome that occurs in cattle due to a mutation in the MOCS1 gene.
http://purl.obolibrary.org/obo/MONDO_1012713	benign familial juvenile epilepsy, LGI2-related, dog	http://purl.obolibrary.org/obo/MONDO_1010411	epilepsy, dog		Any epilepsy that occurs in dogs due to a mutation in the LGI2 gene.
http://purl.obolibrary.org/obo/MONDO_1012719	ametapodia-2, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Any ametopodia that occurs in chickens with recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_1012721	centronuclear myopathy 2, BIN1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012963	centronuclear myopathy, non-human animal		Any centronuclear myopathy that occurs in dogs due to a mutation in the BIN1 gene.
http://purl.obolibrary.org/obo/MONDO_1012731	progressive early-onset cerebellar ataxia, SEL1L-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the SEL1L gene.
http://purl.obolibrary.org/obo/MONDO_1012747	canine hereditary ataxia, RAB24-related, dog	http://purl.obolibrary.org/obo/MONDO_1012959	hereditary ataxia, non-human animal		Any canine hereditary ataxia that occurs in dogs due to a mutation in the RAB24 gene.
http://purl.obolibrary.org/obo/MONDO_1012751	chondrodysplasia, COL2A1-related, pig	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		A severe skeletal dysplasia characterized by shortened long bones, abnormal vertebrae, depressed nasal bridge, and cleft palate that occurs in pigs due to a mutation in the COL2A1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012752	congenital bovine chondrodysplasia, COL2A1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		A disproportionate growth of bones resulting in a shortened and compressed body, mainly due to reduced length of the spine and the long bones of the limbs and severe facial dysmorphisms that occurs in cattle due to a mutation in the COL2A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012755	cataract, NID1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Any cataract that occurs in cattle due to a mutation in the NID1 gene.
http://purl.obolibrary.org/obo/MONDO_1012757	cerebellar hypoplasia, VLDLR-associated, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the VLDLR gene.
http://purl.obolibrary.org/obo/MONDO_1012767	cancer, TP53-related, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Any cancer that occurs in golden hamster due to a mutation in the TP53 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012768	cancer, TP53-related, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Any cancer that occurs in crab-eating macaques due to a mutation in the TP53 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012769	cancer, TP53-related, pig	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any cancer that occurs in pigs due to a mutation in the TP53 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012772	arthrogryposis multiplex congenita, CHRNB1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011474	arthrogryposis multiplex congenita, cattle		Any arthrogryposis multiplex congenita that occurs in cattle due to a mutation in the CHRNB1 gene.
http://purl.obolibrary.org/obo/MONDO_1012774	cerebellar cortical degeneration, SNX14-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Progressive cerebellar ataxia that occurs in dogs due to a mutation in the SNX14 gene.
http://purl.obolibrary.org/obo/MONDO_1012775	cancer, RUNX-related, pig	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Any cancer that occurs in pigs due to a mutation in the RUNX gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012783	spinocerebellar ataxia, KCNJ10-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any spinocerebellar ataxia that occurs in dogs due to a mutation in the KCNJ10 gene.
http://purl.obolibrary.org/obo/MONDO_1012784	spinocerebellar ataxia, SPTBN2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the SPTBN2 gene.
http://purl.obolibrary.org/obo/MONDO_1012785	spinocerebellar ataxia, ITPR1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the ITPR1 gene.
http://purl.obolibrary.org/obo/MONDO_1012789	cerebellar ataxia, ATP1B2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012959	hereditary ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the ATP1B2 gene.
http://purl.obolibrary.org/obo/MONDO_1012790	cataract, CPAMD8-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Any cataract that occurs in cattle due to a mutation in the CPAMD8 gene.
http://purl.obolibrary.org/obo/MONDO_1012800	arthrogryposis multiplex congenita, AGRN-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011474	arthrogryposis multiplex congenita, cattle		Any arthrogryposis multiplex congenita that occurs in cattle due to a mutation in the AGRN gene.
http://purl.obolibrary.org/obo/MONDO_1012805	spinocerebellar ataxia, SCN8A-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the SCN8A gene.
http://purl.obolibrary.org/obo/MONDO_1012827	hereditary cerebellar ataxia, KCNIP4-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the KCNIP4 gene.
http://purl.obolibrary.org/obo/MONDO_1012836	spinocerebellar ataxia, SLC12A6-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the SLC12A6 gene.
http://purl.obolibrary.org/obo/MONDO_1012839	arthrogryposis multiplex congenita, KIF21A-related, pig	http://purl.obolibrary.org/obo/MONDO_1011475	arthrogryposis multiplex congenita, pig		Any arthrogryposis multiplex congenita that occurs in pigs due to a mutation in the KIF21A gene.
http://purl.obolibrary.org/obo/MONDO_1012843	cerebellar degeneration-myositis complex, SLC25A12-related, dog	http://purl.obolibrary.org/obo/MONDO_1010917	myopathy, dog		Any cerebellar ataxia with neuromuscular weakness, increase in serum creatine kinase, and lymphohistiocytic myositis without evidence of intracellular infectious agents that occurs in dogs due to a mutation in the SLC25A12 gene.
http://purl.obolibrary.org/obo/MONDO_1012851	cataract, MIP-related, giant panda	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Any cataract that occurs in giant pandas due to a mutation in the MIP gene.
http://purl.obolibrary.org/obo/MONDO_1012852	60,XX/90,XXY disorder of sexual development, cattle	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		A congenital disorder characterized by abnormalities in the development of the sexual characteristics that occurs in cattle due to diploid/triploid (60,XX/90,XXY) mosaicism.
http://purl.obolibrary.org/obo/MONDO_1012860	abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Abnormal locomotion defined by the loss of typical jumping and blindness at birth due to retinal dysplasia and early-onset cataracts that occurs in rabbits due to a mutation in the RORB gene.
http://purl.obolibrary.org/obo/MONDO_1012878	cerebellar ataxia, SELENOP-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in dogs due to a mutation in the SELENOP gene.
http://purl.obolibrary.org/obo/MONDO_1012910	spinocerebellar ataxia, ATXN3-related, white-tufted-ear marmoset	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar ataxia that occurs in white-tufted-ear marmoset due to a mutation in the ATXN3 gene.
http://purl.obolibrary.org/obo/MONDO_1012913	amyotrophic lateral sclerosis, SOD1-related, pig	http://purl.obolibrary.org/obo/MONDO_1012954	amyotrophic lateral sclerosis, non-human animal		Any amyotrophic lateral sclerosis that occurs in pigs due to a mutation in the SOD1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012914	amyotrophic lateral sclerosis, TARDBP-related, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1012954	amyotrophic lateral sclerosis, non-human animal		Any amyotrophic lateral sclerosis that occurs in crab-eating macaque due to a mutation in the TARDBP gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012915	amyotrophic lateral sclerosis, TARDBP-related, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1012954	amyotrophic lateral sclerosis, non-human animal		Any amyotrophic lateral sclerosis that occurs in Rhesus monkey due to a mutation in the TARDBP gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012916	amyotrophic lateral sclerosis, TARDBP-related, pig	http://purl.obolibrary.org/obo/MONDO_1012954	amyotrophic lateral sclerosis, non-human animal		Any amyotrophic lateral sclerosis that occurs in pigs due to a mutation in the TARDBP gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012917	Alzheimer disease, PSEN1-related, pig	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in pigs due to a mutation in the PSEN1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012918	ataxia, HACE1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012959	hereditary ataxia, non-human animal		Any ataxia that occurs in dogs due to a mutation in the HACE1 gene.
http://purl.obolibrary.org/obo/MONDO_1012920	abdominal hernia, TWIST1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Hernia of the linea alba that occurs in cattle due to a mutation in the TWIST1 gene.
http://purl.obolibrary.org/obo/MONDO_1012922	centronuclear myopathy, DNM2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012963	centronuclear myopathy, non-human animal		Any centronuclear myopathy that occurs in dogs due to a mutation in the DNM2 gene.
http://purl.obolibrary.org/obo/MONDO_1012923	cataract, ADAMTSL4-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Any cataract that occurs in cattle due to a mutation in the ADAMTSL4 gene.
http://purl.obolibrary.org/obo/MONDO_1012924	cataract, FYCO1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal		Any cataract that occurs in dogs due to a mutation in the FYCO1 gene.
http://purl.obolibrary.org/obo/MONDO_1012926	Alzheimer disease, APP-related, white-tufted-ear marmoset	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in white-tufted-ear marmoset due to a mutation in the APP gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012927	Alzheimer disease, APP-related, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in crab-eating macaque due to a mutation in the APP gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012928	Alzheimer disease, APP-related, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in Rhesus monkey due to a mutation in the APP gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012929	Alzheimer disease, APP-related, pig	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in pigs due to a mutation in the APP gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012938	Alzheimer disease, SORL1-related, pig	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in pigs due to a mutation in the SORL1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012944	amelogenesis imperfecta, FAM83H-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1012952	amelogenesis imperfecta, non-human animal		Any amelogenesis imperfecta that occurs in rabbits due to a mutation in the FAM83H gene.
http://purl.obolibrary.org/obo/MONDO_1012945	cerebellar abiotrophy, VMP1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal		Any cerebellar abiotrophy that occurs in dogs due to a mutation in the VMP1 gene.
http://purl.obolibrary.org/obo/MONDO_1012947	ametapodia, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		An inherited bone disorder that occurs in chickens and is characterized by abnormal limb development.
http://purl.obolibrary.org/obo/MONDO_1012949	Alzheimer disease, APP-related, dog	http://purl.obolibrary.org/obo/MONDO_1011461	Alzheimer disease, dog		Alzheimer disease that occurs in dogs due to a mutation in the APP gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012950	Alzheimer disease, PSEN1-related, white-tufted-ear marmoset	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in white-tufted-ear marmoset due to a mutation in the PSEN1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012951	Alzheimer disease, PSEN1-related, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1011443	Alzheimer disease, non-human animal		Alzheimer disease that occurs in crab-eating macaque due to a mutation in the PSEN1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012952	amelogenesis imperfecta, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013507	dental enamel hypoplasia, non-human animal		Amelogenesis imperfecta that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012954	amyotrophic lateral sclerosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		Amyotrophic lateral sclerosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012955	arachnomelia syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		A hereditary malformation of the skeletal system in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012956	cerebellar ataxia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012958	atactic disorder, non-human animal		Cerebellar ataxia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012957	cerebellar ataxia, dog	http://purl.obolibrary.org/obo/MONDO_1011016	cerebellar degeneration, dog		Cerebellar ataxia that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012958	atactic disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Atactic disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012959	hereditary ataxia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012958	atactic disorder, non-human animal		Herediatary ataxia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012960	hereditary cerebellar ataxia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012959	hereditary ataxia, non-human animal		Herediatary cerebellar ataxia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0800494	variable-age onset combined generalized and focal epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100619	variable age epilepsy syndrome		An epilepsy syndrome characterized by a combined generalized and focal epilepsy syndromes where age at seizure onset varies.
http://purl.obolibrary.org/obo/MONDO_1010098	TFAP2B-related congenital heart disease spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency.
http://purl.obolibrary.org/obo/MONDO_0100577	myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome		A group of epilepsy syndromes in which myoclonic seizures are a prominent feature.
http://purl.obolibrary.org/obo/MONDO_1010128	peritonitis	http://purl.obolibrary.org/obo/MONDO_0043786	serositis		Inflammation of the peritoneum (tissue that lines the abdominal wall and covers most of the organs in the abdomen).
http://purl.obolibrary.org/obo/MONDO_0100593	COMP-related skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Autosomal dominant form of syndromic intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0100592	SLC26A2-related skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0100598	autosomal recessive syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100597	intellectual disability, autosomal recessive		Autosomal recessive form of syndromic intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0100606	COL1A2-related Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Any Ehler-Danlos syndrome caused by any variant in the COL1A2 gene.
http://purl.obolibrary.org/obo/MONDO_0100609	ALPL-related autosomal recessive hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia		Any hypophosphatasia in which the cause of the disease is an autosomal recessive loss-of-function in the ALPL gene.
http://purl.obolibrary.org/obo/HP_0025806	Abnormal total B cell count	http://purl.obolibrary.org/obo/HP_0010975	Abnormal B cell count		The absolute number of B cells in the blood, per microliter is above or below the upper limits of normal of the reference range for the appropriate sex and age-group.
http://purl.obolibrary.org/obo/MONDO_0700291	glycogen storage disease IX	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.
http://purl.obolibrary.org/obo/MONDO_0700463	congenital trochlear nerve palsy	http://purl.obolibrary.org/obo/MONDO_0001146	fourth cranial nerve palsy		A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.
http://purl.obolibrary.org/obo/MONDO_0700478	resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	http://purl.obolibrary.org/obo/MONDO_0001328	thyroid hormone resistance syndrome		A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0700513	apolipoprotein A-I deficiency	http://purl.obolibrary.org/obo/MONDO_0017773	hypoalphalipoproteinemia		A lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
http://purl.obolibrary.org/obo/MONDO_0700428	hypomyelination neuropathy-arthrogryposis syndrome	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		A rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.
http://purl.obolibrary.org/obo/MONDO_0700418	idiopathic hypercalciuria	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.
http://purl.obolibrary.org/obo/MONDO_0700419	semilobar holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		A form of holoprosencephaly characterized by fusion of the left and right frontal and parietal lobes with only a posterior interhemispheric fissure. Craniofacial features variably include ocular hypotelorism, midline cleft lip (complete or partial) and a flat nose.
http://purl.obolibrary.org/obo/MONDO_0700424	prenatal benign hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia		A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.
http://purl.obolibrary.org/obo/MONDO_0700447	anterior urethral valve	http://purl.obolibrary.org/obo/MONDO_0018559	fetal lower urinary tract obstruction		A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis.
http://purl.obolibrary.org/obo/MONDO_0700479	mirror-image polydactyly	http://purl.obolibrary.org/obo/MONDO_0011348	non-syndromic polydactyly		A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.
http://purl.obolibrary.org/obo/MONDO_1060188	small plaque parapsoriasis	http://purl.obolibrary.org/obo/MONDO_0006592	parapsoriasis		A variant of parapsoriasis characterized by round-to-oval plaques less than 5cm in diameter, and it rarely progresses.
http://purl.obolibrary.org/obo/MONDO_1060189	large plaque parapsoriasis	http://purl.obolibrary.org/obo/MONDO_0006592	parapsoriasis		A variant of parapsoriasis characterized by erythematous-to-brown patches or thin plaques with fine scales larger than 5cm in diameter. It has a substantial risk to evolve to mycosis fungoides.
http://purl.obolibrary.org/obo/HP_0020006	Ciliary body coloboma	http://purl.obolibrary.org/obo/HP_0000589	Coloboma		A coloboma of the ciliary body.
http://purl.obolibrary.org/obo/HP_0025016	Abnormal capillary morphology	http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology		A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.
http://purl.obolibrary.org/obo/HP_0025018	Abnormal capillary physiology	http://purl.obolibrary.org/obo/HP_0030163	Abnormal vascular physiology		A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.
http://purl.obolibrary.org/obo/HP_0025033	Abnormal digestive system morphology	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		A structural anomaly of the digestive system.
http://purl.obolibrary.org/obo/HP_0025034	Abnormal morphology of erythroid progenitor cell	http://purl.obolibrary.org/obo/HP_0012130	Abnormal erythroid lineage cell morphology		Abnormal form of the progenitor cells committed to the erythroid lineage.
http://purl.obolibrary.org/obo/HP_0025035	Abnormal proerythroblast morphology	http://purl.obolibrary.org/obo/HP_0012130	Abnormal erythroid lineage cell morphology		Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.
http://purl.obolibrary.org/obo/HP_0025039	Basal ganglia edema	http://purl.obolibrary.org/obo/HP_0002134	Abnormal basal ganglia morphology		Swelling within the basal ganglia due to the accumulation of fluid.
http://purl.obolibrary.org/obo/HP_0025058	Hypothalamic atrophy	http://purl.obolibrary.org/obo/HP_0012286	Abnormal hypothalamus morphology		Partial or complete wasting (loss) of hypothalamus tissue that was once present.
http://purl.obolibrary.org/obo/HP_0025098	Dysgenesis of the hypothalamus	http://purl.obolibrary.org/obo/HP_0012286	Abnormal hypothalamus morphology		Structural abnormality of the hypothalamus related to defective development.
http://purl.obolibrary.org/obo/HP_0025100	Abnormal hippocampus morphology	http://purl.obolibrary.org/obo/HP_0007343	Abnormal morphology of the limbic system		Any structural anomaly of the hippocampus,
http://purl.obolibrary.org/obo/HP_0025101	Dysgenesis of the hippocampus	http://purl.obolibrary.org/obo/HP_0025100	Abnormal hippocampus morphology		Structural abnormality of the hippocampus related to defective development.
http://purl.obolibrary.org/obo/HP_0025102	Dysgenesis of the basal ganglia	http://purl.obolibrary.org/obo/HP_0002134	Abnormal basal ganglia morphology		Structural abnormality of the basal ganglia related to defective development.
http://purl.obolibrary.org/obo/HP_0025129	Abnormal small intestinal mucosa morphology	http://purl.obolibrary.org/obo/HP_0002244	Abnormal small intestine morphology		A structural anomaly of the mucous lining of the small intestine.
http://purl.obolibrary.org/obo/HP_0025132	Abnormal circulating estrogen level	http://purl.obolibrary.org/obo/HP_0033799	Abnormal circulating sex hormone concentration		A deviation from normal concentration of the hormone estrogen in the blood circulation.
http://purl.obolibrary.org/obo/HP_0025142	Constitutional symptom	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
http://purl.obolibrary.org/obo/HP_0025153	Transient	http://purl.obolibrary.org/obo/HP_0011008	Temporal pattern		Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.
http://purl.obolibrary.org/obo/HP_0025163	Abnormal optic chiasm morphology	http://purl.obolibrary.org/obo/HP_0000587	Abnormal optic nerve morphology		A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.
http://purl.obolibrary.org/obo/HP_0025278	Cold-induced sweating	http://purl.obolibrary.org/obo/HP_0025276	Abnormality of skin adnexa physiology		Sweating provoked by cold temperature rather than by heat.
http://purl.obolibrary.org/obo/HP_0030008	Cervical agenesis	http://purl.obolibrary.org/obo/HP_0430114	Aplasia/hypoplasia of the uterine cervix		Congenital absence of the uterine cervix.
http://purl.obolibrary.org/obo/HP_0030027	Abnormal nasal cartilage morphology	http://purl.obolibrary.org/obo/HP_0010938	Abnormal external nose morphology		A morphological anomaly of the nasal cartilage.
http://purl.obolibrary.org/obo/HP_0030039	Fused thoracic vertebrae	http://purl.obolibrary.org/obo/HP_0002948	Vertebral fusion		A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.
http://purl.obolibrary.org/obo/HP_0030040	Fused lumbar vertebrae	http://purl.obolibrary.org/obo/HP_0002948	Vertebral fusion		A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.
http://purl.obolibrary.org/obo/HP_0030053	Stiff skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		An induration (hardening) of the skin
http://purl.obolibrary.org/obo/HP_0030086	Reduced CSF lactate	http://purl.obolibrary.org/obo/HP_0030085	Abnormal CSF lactate concentration		Decreased concentration of lactate in the cerebrospinal fluid.
http://purl.obolibrary.org/obo/HP_0030222	Visual agnosia	http://purl.obolibrary.org/obo/HP_0010524	Disturbed sensory perception		The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory.
http://purl.obolibrary.org/obo/HP_0030281	Cervical C3/C4 vertebral fusion	http://purl.obolibrary.org/obo/HP_0002949	Fused cervical vertebrae		Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.
http://purl.obolibrary.org/obo/HP_0030681	Abnormal morphology of myocardial trabeculae	http://purl.obolibrary.org/obo/HP_0001637	Abnormal myocardium morphology		Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).
http://purl.obolibrary.org/obo/HP_0030683	Recurrent bacterial vaginosis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		Repeated symptomatic episodes of inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.
http://purl.obolibrary.org/obo/HP_0030912	Duplicated clitoris	http://purl.obolibrary.org/obo/HP_0000056	Abnormal clitoris morphology		Supernumerary clitoris.
http://purl.obolibrary.org/obo/HP_0040036	Onychogryphosis of fingernail	http://purl.obolibrary.org/obo/HP_0001805	Onychogryphosis		Thickened fingernails.
http://purl.obolibrary.org/obo/HP_0040090	Abnormal tympanic membrane morphology	http://purl.obolibrary.org/obo/HP_0000370	Abnormality of the middle ear		Any structural abnormality of the tympanic membrane
http://purl.obolibrary.org/obo/HP_0040127	Abnormal sweat homeostasis	http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis		An abnormality of the composition of sweat or the levels of its components.
http://purl.obolibrary.org/obo/HP_0040165	Periostitis	http://purl.obolibrary.org/obo/HP_0030313	Abnormal periosteum morphology		Inflammation of the periosteum
http://purl.obolibrary.org/obo/HP_0040176	Abnormal circulating phospholipid concentration	http://purl.obolibrary.org/obo/HP_0003119	Abnormal circulating lipid concentration		Any deviation from the normal concentration of a phospholipid in the blood circulation.
http://purl.obolibrary.org/obo/HP_0040207	Abnormal CSF pterin concentration	http://purl.obolibrary.org/obo/HP_0025454	Abnormal CSF metabolite concentration		Abnormal concentration of a pterin in the cerebrospinal fluid (CSF).
http://purl.obolibrary.org/obo/HP_0040208	Elevated CSF biopterin level	http://purl.obolibrary.org/obo/HP_0040207	Abnormal CSF pterin concentration		Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.
http://purl.obolibrary.org/obo/HP_0040209	Decreased CSF biopterin level	http://purl.obolibrary.org/obo/HP_0040207	Abnormal CSF pterin concentration		Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.
http://purl.obolibrary.org/obo/HP_0040210	Abnormal circulating biopterin concentration	http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration		A deviation from the normal concentration of biopterin in the blood circulation.
http://purl.obolibrary.org/obo/HP_0040214	Abnormal circulating insulin concentration	http://purl.obolibrary.org/obo/HP_0003117	Abnormal circulating hormone concentration		An abnormal concentration of insulin in the body.
http://purl.obolibrary.org/obo/HP_0040256	Aplastic/Hypoplastic nasopharyngeal adenoids	http://purl.obolibrary.org/obo/HP_3000033	Abnormal nasopharyngeal adenoid morphology		Absence or underdevelopment of the nasopharyngeal adenoids.
http://purl.obolibrary.org/obo/HP_0040258	Hypoplastic nasopharyngeal adenoids	http://purl.obolibrary.org/obo/HP_0040260	Decreased size of nasopharyngeal adenoids		Underdevelopment of the nasopharyngeal adenoids.
http://purl.obolibrary.org/obo/HP_0040261	Increased size of nasopharyngeal adenoids	http://purl.obolibrary.org/obo/HP_0040257	Abnormal size of nasopharyngeal adenoids		An abnormal increase in the size of nasopharyngeal adenoids.
http://purl.obolibrary.org/obo/HP_0040265	Upper limb muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0003712	Skeletal muscle hypertrophy		Abnormal increase in muscle size and mass of one or both arms not due to training.
http://purl.obolibrary.org/obo/HP_0045011	Decreased urine bicarbonate concentration	http://purl.obolibrary.org/obo/HP_0011279	Abnormality of urine bicarbonate level		Abnormally decreased concentration of hydrogencarbonate in the urine.
http://purl.obolibrary.org/obo/HP_0045026	Abnormal mediastinum morphology	http://purl.obolibrary.org/obo/HP_0045027	Abnormality of the thoracic cavity		Any structural anomaly of the central compartment of the thoracic cavity.
http://purl.obolibrary.org/obo/HP_0045052	Abnormality of the brachial nerve plexus	http://purl.obolibrary.org/obo/HP_0410010	Abnormality of somatic nerve plexus		Any abnormality of the brachial nerve plexus.
http://purl.obolibrary.org/obo/HP_0045053	Abnormality of the lumbosacral nerve plexus	http://purl.obolibrary.org/obo/HP_0410010	Abnormality of somatic nerve plexus		Any abnormality of the lumbosacral nerve plexus.
http://purl.obolibrary.org/obo/HP_0410000	Abnormal vomer morphology	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		An abnormality of the vomer.
http://purl.obolibrary.org/obo/HP_0430028	Hyperplasia of the maxilla	http://purl.obolibrary.org/obo/HP_0000326	Abnormal maxilla morphology		Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.
http://purl.obolibrary.org/obo/HP_3000019	Abnormal buccal mucosa morphology	http://purl.obolibrary.org/obo/HP_0004426	Abnormal cheek morphology		An abnormality of a buccal mucosa.
http://purl.obolibrary.org/obo/HP_3000021	Abnormal buccal fat pad morphology	http://purl.obolibrary.org/obo/HP_0004426	Abnormal cheek morphology		An abnormality of a buccal fat pad.
http://purl.obolibrary.org/obo/HP_3000032	Abnormality of central retinal artery	http://purl.obolibrary.org/obo/HP_0410006	Abnormality of ophthalmic artery		An abnormality of a central retinal artery.
http://purl.obolibrary.org/obo/HP_3000033	Abnormal nasopharyngeal adenoid morphology	http://purl.obolibrary.org/obo/HP_0100765	Abnormality of the tonsils		Any abnormality of nasopharyngeal adenoids.
http://purl.obolibrary.org/obo/HP_3000041	Abnormality of external carotid artery	http://purl.obolibrary.org/obo/HP_0005344	Abnormal carotid artery morphology		An abnormality of an external carotid artery.
http://purl.obolibrary.org/obo/HP_3000042	Abnormal jugular vein morphology	http://purl.obolibrary.org/obo/HP_3000037	Abnormal neck blood vessel morphology		Any structural abnormality of a jugular vein.
http://purl.obolibrary.org/obo/HP_3000043	Abnormal facial vein morphology	http://purl.obolibrary.org/obo/HP_3000037	Abnormal neck blood vessel morphology		An abnormality of a facial vein.
http://purl.obolibrary.org/obo/HP_3000045	Abnormality of genioglossus muscle	http://purl.obolibrary.org/obo/HP_0040174	Abnormality of extrinsic muscle of tongue		An abnormality of a genioglossus muscle.
http://purl.obolibrary.org/obo/HP_3000047	Abnormal glossopharyngeal nerve morphology	http://purl.obolibrary.org/obo/HP_0045010	Abnormal peripheral nerve morphology by anatomical site		Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).
http://purl.obolibrary.org/obo/HP_3000051	Abnormal hyoglossus muscle morphology	http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology		An abnormality of a hyoglossus muscle.
http://purl.obolibrary.org/obo/HP_3000056	Abnormality of artery of lower lip	http://purl.obolibrary.org/obo/HP_3000024	Abnormal facial artery morphology		An abnormality of an artery of lower lip.
http://purl.obolibrary.org/obo/HP_3000063	Abnormality of internal jugular vein	http://purl.obolibrary.org/obo/HP_3000042	Abnormal jugular vein morphology		An abnormality of an internal jugular vein.
http://purl.obolibrary.org/obo/HP_3000064	Abnormality of intrinsic muscle of tongue	http://purl.obolibrary.org/obo/HP_0040173	Abnormality of the tongue muscle		An abnormality of an intrinsic muscle of tongue.
http://purl.obolibrary.org/obo/HP_3000065	Abnormal lacrimal artery morphology	http://purl.obolibrary.org/obo/HP_3000036	Abnormal head blood vessel morphology		An abnormality of a lacrimal artery.
http://purl.obolibrary.org/obo/HP_3000066	Abnormal lacrimal sac morphology	http://purl.obolibrary.org/obo/HP_0000614	Abnormal nasolacrimal system morphology		An abnormality of a lacrimal sac.
http://purl.obolibrary.org/obo/HP_3000069	Abnormality of lateral rectus extra-ocular muscle	http://purl.obolibrary.org/obo/HP_0008049	Abnormality of the extraocular muscles		An abnormality of a lateral rectus extra-ocular muscle.
http://purl.obolibrary.org/obo/HP_3000072	Abnormal levator palpebrae superioris morphology	http://purl.obolibrary.org/obo/HP_0008049	Abnormality of the extraocular muscles		An abnormality of a levator palpebrae superioris.
http://purl.obolibrary.org/obo/HP_3000074	Abnormal lingual artery morphology	http://purl.obolibrary.org/obo/HP_3000036	Abnormal head blood vessel morphology		Any structural abnormality of a lingual artery.
http://purl.obolibrary.org/obo/NBO_0000001	body part movement	http://purl.obolibrary.org/obo/NBO_0000338	kinesthetic behavior		A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC]
http://purl.obolibrary.org/obo/NBO_0000007	mouth movement	http://purl.obolibrary.org/obo/NBO_0000001	body part movement		The act of moving any of the tissues and hard structures surrounding the mouth other than teeth, jaws or filter structures [NBO:AC]
http://purl.obolibrary.org/obo/NBO_0000010	reproductive behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		Behavior directly related to the production of offspring [NBO:AC]
http://purl.obolibrary.org/obo/NBO_0000079	feeding behavior	http://purl.obolibrary.org/obo/NBO_0001845	consumption behavior		The act of bringing an object or substance into the body by swallowing, surrounding or absorbing it [NBO:SMAC]
http://purl.obolibrary.org/obo/NBO_0000338	kinesthetic behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		"Movement behavior of the body or its parts."
http://purl.obolibrary.org/obo/NBO_0000339	motor coordination	http://purl.obolibrary.org/obo/NBO_0000317	vestibular behavior		"The coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions." [wikipedia:Motor_coordination]
http://purl.obolibrary.org/obo/NBO_0000469	stress related behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		"Behavior related to how the body reacts to a stressor ( a stimulus that causes stress), real or imagined." [wikipedia:Stress_(biological)]
http://purl.obolibrary.org/obo/NBO_0000550	recognition memory	http://purl.obolibrary.org/obo/NBO_0000185	declarative memory		"Ability to correctly remember something that has been encountered before." [wikipedia:Recognition_memory]
http://purl.obolibrary.org/obo/NBO_0000551	visual object recognition	http://purl.obolibrary.org/obo/NBO_0000550	recognition memory		"Ability to perceive the physical properties of an object (such as shape, colour and texture) and apply semantic attributes to the object, which includes the understanding of its use, previous experience with the object and how it relates to others." [wikipedia:Cognitive_Neuroscience_of_Visual_Object_Recognition]
http://purl.obolibrary.org/obo/NBO_0001786	regulation of behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		"Any process that modulates the frequency, rate or extent of behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [GO:0050795]
http://purl.obolibrary.org/obo/MF_0000008	cognitive process	http://purl.obolibrary.org/obo/MF_0000020	mental process		A mental process that creates, modifies or has as participant some cognitive representation.
http://purl.obolibrary.org/obo/MF_0000013	thinking	http://purl.obolibrary.org/obo/MF_0000020	mental process		a mental process that involves the manipulation of mental language and/or mental images
http://purl.obolibrary.org/obo/MF_0000017	consciousness	http://purl.obolibrary.org/obo/BFO_0000144	process profile		Consciousness is an inseparable part of all mental processes. It is that part of the mental process that:
a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and
b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process.
http://purl.obolibrary.org/obo/MF_0000019	perception	http://purl.obolibrary.org/obo/MF_0000020	mental process		A mental process which is 
a) produced by a causal process involving a part of the environment of the organism, and 
b) is experienced by the organism as being so caused, and 
c) in which the relevant part of the environment is thereby represented to the organism.
http://purl.obolibrary.org/obo/MF_0000020	mental process	http://purl.obolibrary.org/obo/BFO_0000015	process		A bodily process that occurs in the brain, and that can of itself be conscious, or can give rise to a process that can of itself be conscious or can give rise to behaviour.
http://purl.obolibrary.org/obo/MF_0000030	representation	http://purl.obolibrary.org/obo/BFO_0000020	specifically dependent continuant		A dependent continuant which is about a portion of reality.
http://purl.obolibrary.org/obo/MF_0000031	cognitive representation	http://purl.obolibrary.org/obo/MF_0000030	representation		A representation which specifically depends on an anatomical structure in the cognitive system of an organism.
http://purl.obolibrary.org/obo/MF_0000032	bodily disposition	http://purl.obolibrary.org/obo/BFO_0000016	disposition		A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language.
http://purl.obolibrary.org/obo/MF_0000033	mental disposition	http://purl.obolibrary.org/obo/MF_0000032	bodily disposition		A mental disposition is a bodily disposition that is realized in a mental process. 
http://purl.obolibrary.org/obo/MF_0000061	orgasm	http://purl.obolibrary.org/obo/MF_0000020	mental process		Orgasm is the sudden discharge of accumulated sexual tension during the sexual response cycle, resulting in rhythmic muscular contractions in the pelvic region characterized by sexual pleasure.

http://en.wikipedia.org/wiki/Orgasm
http://purl.obolibrary.org/obo/NBO_0000404	stretch reflex	http://purl.obolibrary.org/obo/NBO_0000389	reflexive behavior		"A muscle contraction in response to stretching within the muscle." [wikipedia:Stretch_reflex]
http://purl.obolibrary.org/obo/MONDO_0007222	brachydactyly type D	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.
http://purl.obolibrary.org/obo/MONDO_0007670	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)	http://purl.obolibrary.org/obo/MONDO_0019175	primary lymphedema		Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
http://purl.obolibrary.org/obo/MONDO_0009148	Rosselli-Gulienetti syndrome	http://purl.obolibrary.org/obo/MONDO_0007124	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome		A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene
http://purl.obolibrary.org/obo/MONDO_0009696	juvenile myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0100577	myoclonic epilepsy		The most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).
http://purl.obolibrary.org/obo/MONDO_0011694	spinocerebellar ataxia type 15/16	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.
http://purl.obolibrary.org/obo/MONDO_0012268	AIDS	http://purl.obolibrary.org/obo/MONDO_0005109	HIV infectious disease		A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.
http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
http://purl.obolibrary.org/obo/MONDO_0021112	scrotum cancer	http://purl.obolibrary.org/obo/MONDO_0005836	male reproductive organ cancer		A primary or metastatic malignant neoplasm affecting the scrotum.
http://purl.obolibrary.org/obo/MONDO_0021115	luminal B breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004990	breast tumor luminal A or B		A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.
http://purl.obolibrary.org/obo/MONDO_0021116	luminal A breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004990	breast tumor luminal A or B		A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.
http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic	http://purl.obolibrary.org/obo/PATO_0000001	quality		An attribute of a disease.
http://purl.obolibrary.org/obo/MONDO_0021126	syndromic or isolated	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features.
http://purl.obolibrary.org/obo/MONDO_0021130	disorder of sphingolipid biosynthesis	http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder		An inherited metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.
http://purl.obolibrary.org/obo/MONDO_0021131	frontal lobe ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0004245	ependymal tumor of brain		An ependymal tumor affecting the frontal lobe of the brain.
http://purl.obolibrary.org/obo/MONDO_0021132	tertiary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001741	hyperparathyroidism		An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.
http://purl.obolibrary.org/obo/MONDO_0021133	acquired factor XIII deficiency	http://purl.obolibrary.org/obo/MONDO_0020599	acquired coagulation factor deficiency		An acquired coagulation disorder due to reduced levels and activity of factor XIII.
http://purl.obolibrary.org/obo/MONDO_0021134	acquired factor X deficiency	http://purl.obolibrary.org/obo/MONDO_0020599	acquired coagulation factor deficiency		An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.
http://purl.obolibrary.org/obo/MONDO_0021171	Timothy syndrome, classic type	http://purl.obolibrary.org/obo/MONDO_0010979	Timothy syndrome		Classic form of Timothy syndrome, includes all features of generic.
http://purl.obolibrary.org/obo/MONDO_0021172	Timothy syndrome, atypical type	http://purl.obolibrary.org/obo/MONDO_0010979	Timothy syndrome		Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.
http://purl.obolibrary.org/obo/MONDO_0021176	autoimmune hepatitis type 2	http://purl.obolibrary.org/obo/MONDO_0016264	autoimmune hepatitis		Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.
http://purl.obolibrary.org/obo/MONDO_0021177	autoimmune hepatitis type 3	http://purl.obolibrary.org/obo/MONDO_0016264	autoimmune hepatitis		Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.
http://purl.obolibrary.org/obo/MONDO_0021180	acquired xanthinuria	http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease		Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.
http://purl.obolibrary.org/obo/MONDO_0021201	skin infection	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.
http://purl.obolibrary.org/obo/MONDO_0021240	tongue neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the tongue.
http://purl.obolibrary.org/obo/MONDO_0021241	buccal mucosa neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the buccal mucosa.
http://purl.obolibrary.org/obo/MONDO_0021242	sublingual gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021368	neoplasm of major salivary gland		A neoplasm (disease) that involves the sublingual gland.
http://purl.obolibrary.org/obo/MONDO_0021243	parotid gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0005899	parotid disorder		A neoplasm (disease) that involves the parotid gland.
http://purl.obolibrary.org/obo/MONDO_0021244	submandibular gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0001597	submandibular gland disorder		A neoplasm (disease) that involves the submandibular gland.
http://purl.obolibrary.org/obo/MONDO_0021245	oral cavity neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the oral cavity.
http://purl.obolibrary.org/obo/MONDO_0021246	pharynx neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the pharynx.
http://purl.obolibrary.org/obo/MONDO_0021251	endometrium neoplasm	http://purl.obolibrary.org/obo/MONDO_0021353	tumor of uterus		A neoplasm (disease) that involves the endometrium.
http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A disease that involves the large intestine.
http://purl.obolibrary.org/obo/HP_0032218	Decreased CD4+ T cell proportion	http://purl.obolibrary.org/obo/HP_0025183	Abnormal CD4+ T cell proportion		Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.
http://purl.obolibrary.org/obo/MONDO_0100082	LEOPARD syndrome 1	http://purl.obolibrary.org/obo/MONDO_0007893	Noonan syndrome with multiple lentigines		Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.
http://purl.obolibrary.org/obo/MONDO_0400005	refeeding syndrome	http://purl.obolibrary.org/obo/MONDO_0005137	nutritional disorder		Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).
http://purl.obolibrary.org/obo/CHEBI_149689	D-dopa zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	amino-acid zwitterion		An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of <small>D</small>-dopa. Major microspecies at pH 7.3.
http://purl.obolibrary.org/obo/HP_0041076	Abnormal immunoglobulin level in body fluid	http://purl.obolibrary.org/obo/HP_0005372	Abnormal B cell physiology		An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.
http://purl.obolibrary.org/obo/HP_0041077	Increased immunoglobulin level in body fluid	http://purl.obolibrary.org/obo/HP_0041076	Abnormal immunoglobulin level in body fluid		An elevation from normal levels of immunoglobulins in body fluids, such as mucous.
http://purl.obolibrary.org/obo/MONDO_0100175	TTN-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.
http://purl.obolibrary.org/obo/MONDO_0100176	AP-4 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.
http://purl.obolibrary.org/obo/MONDO_0100184	GTP cyclohydrolase I deficiency	http://purl.obolibrary.org/obo/MONDO_0045014	tetrahydrobiopterin metabolic process disease		A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.
http://purl.obolibrary.org/obo/HP_0033090	Increased aromatic amino acid level in urine	http://purl.obolibrary.org/obo/HP_0033100	Increased proteinogenic amino acid level in urine		An elevated level of an aromatic amino acid in the urine.
http://purl.obolibrary.org/obo/HP_0033095	Increased sulfur amino acid level in urine	http://purl.obolibrary.org/obo/HP_0033100	Increased proteinogenic amino acid level in urine		An elevated level of a sulfur-containing amino acid in the urine.
http://purl.obolibrary.org/obo/HP_0033100	Increased proteinogenic amino acid level in urine	http://purl.obolibrary.org/obo/HP_0003355	Aminoaciduria		An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.
http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration	http://purl.obolibrary.org/obo/HP_0003112	Abnormal circulating amino acid concentration		An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.
http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.
http://purl.obolibrary.org/obo/HP_0033151	Abnormal pharynx morphology	http://purl.obolibrary.org/obo/HP_0000600	Abnormality of the pharynx		A structural anomaly of the pharynx.
http://purl.obolibrary.org/obo/MONDO_0100188	combined ApoA-I and ApoC-III deficiency	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.
http://purl.obolibrary.org/obo/MONDO_0100203	parainfluenza virus type 1 infectious disease	http://purl.obolibrary.org/obo/MONDO_0100197	parainfluenza infectious disease		A disease caused by infection with parainfluenza virus type 1.
http://purl.obolibrary.org/obo/MONDO_0100204	parainfluenza virus type 2 infectious disease	http://purl.obolibrary.org/obo/MONDO_0100197	parainfluenza infectious disease		A disease caused by infection with parainfluenza virus type 2.
http://purl.obolibrary.org/obo/MONDO_0100205	parainfluenza virus type 4 infectious disease	http://purl.obolibrary.org/obo/MONDO_0100197	parainfluenza infectious disease		A disease caused by infection with parainfluenza virus type 4.
http://purl.obolibrary.org/obo/MONDO_0026777	VEXAS syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.
http://purl.obolibrary.org/obo/MONDO_0033635	mitochondrial complex IV deficiency, nuclear type 3	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX10 gene.
http://purl.obolibrary.org/obo/MONDO_0033636	mitochondrial complex IV deficiency, nuclear type 4	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SCO1 gene.
http://purl.obolibrary.org/obo/MONDO_0033637	mitochondrial complex IV deficiency, nuclear type 7	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6B1 gene.
http://purl.obolibrary.org/obo/MONDO_0033638	mitochondrial complex IV deficiency, nuclear type 8	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the TACO1 gene.
http://purl.obolibrary.org/obo/MONDO_0033639	mitochondrial complex IV deficiency, nuclear type 10	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX14 gene.
http://purl.obolibrary.org/obo/MONDO_0033643	inflammatory bowel disease 30	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has material basis in heterozygous mutation in the CARD8 gene on chromosome 19q13.33.
http://purl.obolibrary.org/obo/MONDO_0033645	mitochondrial complex IV deficiency, nuclear type 11	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX20 gene.
http://purl.obolibrary.org/obo/MONDO_0033646	mitochondrial complex IV deficiency, nuclear type 12	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET100 gene.
http://purl.obolibrary.org/obo/MONDO_0033649	mitochondrial complex IV deficiency, nuclear type 14	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA3 gene.
http://purl.obolibrary.org/obo/MONDO_0033650	mitochondrial complex IV deficiency, nuclear type 15	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX8A gene.
http://purl.obolibrary.org/obo/MONDO_0033651	mitochondrial complex IV deficiency, nuclear type 16	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX4I1 gene.
http://purl.obolibrary.org/obo/MONDO_0033652	mitochondrial complex IV deficiency, nuclear type 17	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA8 gene.
http://purl.obolibrary.org/obo/MONDO_0033653	mitochondrial complex IV deficiency, nuclear type 18	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6A2 gene.
http://purl.obolibrary.org/obo/MONDO_0033654	mitochondrial complex IV deficiency, nuclear type 19	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET117 gene. It is characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy.
http://purl.obolibrary.org/obo/MONDO_0033655	mitochondrial complex IV deficiency, nuclear type 20	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX5A gene.
http://purl.obolibrary.org/obo/MONDO_0033656	mitochondrial complex IV deficiency, nuclear type 21	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COXFA4 gene.
http://purl.obolibrary.org/obo/MONDO_0033664	Kilquist syndrome	http://purl.obolibrary.org/obo/MONDO_0859000	SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome		An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.
http://purl.obolibrary.org/obo/MONDO_0033667	Delpire-McNeill syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a mutation in the SLC12A2 gene. It is characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity.
http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type	http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency		A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.
http://purl.obolibrary.org/obo/MONDO_0034846	primary desmosis coli	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.
http://purl.obolibrary.org/obo/MONDO_0100222	A20 haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.
http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type	http://purl.obolibrary.org/obo/MONDO_0100133	mitochondrial complex I deficiency		Any mitochondrial complex I deficiency in which the cause of the disease is a mutation in the nuclear-encoded genes that encode structural subunits or assembly factors of complex I.
http://purl.obolibrary.org/obo/MONDO_0100226	parasomnia, sleepwalking type	http://purl.obolibrary.org/obo/MONDO_0100081	sleep disorder		A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%).
http://purl.obolibrary.org/obo/CL_4028001	pulmonary capillary endothelial cell	http://purl.obolibrary.org/obo/CL_2000016	lung microvascular endothelial cell		Any capillary endothelial cell that is part of a lung.
http://purl.obolibrary.org/obo/HP_4000072	Abnormal language feature	http://purl.obolibrary.org/obo/HP_0034434	Abnormal communication		The presence of any atypical form of expressive language.
http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.
http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.
http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.
http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A skeletal dysplasia where osteoid becomes calcified.
http://purl.obolibrary.org/obo/MONDO_0800080	severe spondylodysplastic dysplasia	http://purl.obolibrary.org/obo/MONDO_0019694	spondylodysplastic dysplasia		An instance of spondylodysplastic dysplasia that has a high degree of severity.
http://purl.obolibrary.org/obo/MONDO_0800102	CNGA3-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.
http://purl.obolibrary.org/obo/MONDO_0100464	acid sphingomyelinase deficiency	http://purl.obolibrary.org/obo/MONDO_0001982	Niemann-Pick disease		An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.
http://purl.obolibrary.org/obo/MONDO_0700081	newborn respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0100131	pediatric acute respiratory distress syndrome		A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.
http://purl.obolibrary.org/obo/MONDO_0100493	autosomal recessive titinopathy	http://purl.obolibrary.org/obo/MONDO_0100175	TTN-related myopathy		Autosomal recessive form of TTN-related myopathy.
http://purl.obolibrary.org/obo/MONDO_0100494	autosomal dominant titinopathy	http://purl.obolibrary.org/obo/MONDO_0100175	TTN-related myopathy		Autosomal dominant form of TTN-related myopathy.
http://purl.obolibrary.org/obo/MONDO_0800101	NMNAT1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.
http://purl.obolibrary.org/obo/MONDO_0800098	SNRNP200-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by heterozygous variants in the SNRNP200 gene.
http://purl.obolibrary.org/obo/MONDO_0800099	RDH12-related recessive retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.
http://purl.obolibrary.org/obo/MONDO_0700080	EPHB4-associated vascular malformation spectrum	http://purl.obolibrary.org/obo/MONDO_0024291	vascular malformation		Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.
http://purl.obolibrary.org/obo/MONDO_0024781	immunodeficiency 102	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.
http://purl.obolibrary.org/obo/MONDO_0030887	cardiomyopathy, dilated, 2G	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
http://purl.obolibrary.org/obo/MONDO_0031213	restrictive dermopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.
http://purl.obolibrary.org/obo/MONDO_0031257	high altitude pulmonary edema	http://purl.obolibrary.org/obo/MONDO_0006932	pulmonary edema		A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.
http://purl.obolibrary.org/obo/MONDO_0034989	intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.
http://purl.obolibrary.org/obo/MONDO_0034991	intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.
http://purl.obolibrary.org/obo/MONDO_0035337	Duane retraction syndrome with congenital deafness	http://purl.obolibrary.org/obo/MONDO_0007473	Duane retraction syndrome		A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.
http://purl.obolibrary.org/obo/MONDO_0035344	acute bilirubin encephalopathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.
http://purl.obolibrary.org/obo/MONDO_0035345	chronic bilirubin encephalopathy	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.
http://purl.obolibrary.org/obo/MONDO_0035777	parenteral nutrition-associated cholestasis	http://purl.obolibrary.org/obo/MONDO_0001751	cholestasis		A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.
http://purl.obolibrary.org/obo/MONDO_0037398	pneumonia caused by pseudomonas aeruginosa infection	http://purl.obolibrary.org/obo/MONDO_0040732	Pseudomonas aeruginosa infectious disease		A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.
http://purl.obolibrary.org/obo/MONDO_0100465	complex neurodevelopmental disorder with or without congenital anomalies	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.
http://purl.obolibrary.org/obo/MONDO_0100492	Bonnevie-Ullrich syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.
http://purl.obolibrary.org/obo/MONDO_0100495	autosomal recessive distal titinopathy	http://purl.obolibrary.org/obo/MONDO_0100493	autosomal recessive titinopathy		A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.
http://purl.obolibrary.org/obo/MONDO_0100496	Emery-Dreifuss-like muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0100493	autosomal recessive titinopathy		A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0100497	titinopathy with congenital contractures	http://purl.obolibrary.org/obo/MONDO_0100493	autosomal recessive titinopathy		A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.
http://purl.obolibrary.org/obo/MONDO_0700078	triple-positive breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006512	estrogen-receptor positive breast cancer		A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).
http://purl.obolibrary.org/obo/MONDO_0700079	hormone receptor-positive breast cancer	http://purl.obolibrary.org/obo/MONDO_0006512	estrogen-receptor positive breast cancer		A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2).
http://purl.obolibrary.org/obo/MONDO_0800042	restrictive dermopathy 1	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
http://purl.obolibrary.org/obo/MONDO_0800043	Stüve-Wiedemann syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
http://purl.obolibrary.org/obo/MONDO_0800044	congenital disorder of deglycosylation 1	http://purl.obolibrary.org/obo/MONDO_0045010	glycoprotein metabolism disease		A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.
http://purl.obolibrary.org/obo/MONDO_0800100	RDH12-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.
http://purl.obolibrary.org/obo/MONDO_0100517	PSAP-related sphingolipidosis	http://purl.obolibrary.org/obo/MONDO_0019255	sphingolipidosis		A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.
http://purl.obolibrary.org/obo/MONDO_0100619	variable age epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome		An epilepsy syndrome that has an onset during variable ages and stages of life.
http://purl.obolibrary.org/obo/MONDO_0700296	aflatoxicosis	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A disease caused by consuming food or feed contaminated with aflatoxins.
http://purl.obolibrary.org/obo/MONDO_0700299	ACTH-independent macronodular adrenal hyperplasia 3	http://purl.obolibrary.org/obo/MONDO_0009049	Cushing syndrome due to macronodular adrenal hyperplasia		Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the KDM1A gene.
http://purl.obolibrary.org/obo/MONDO_0700303	Erb palsy	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		A palsy characterized by a paralysis of the arm caused by an injury to the upper group of the main nerves supplying it, specifically the upper trunk C5-C6 of the brachial plexus. Erb palsy most commonly, though not exclusively, arises as a result of an injury sustained during birth.
http://purl.obolibrary.org/obo/MONDO_1060109	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications.
http://purl.obolibrary.org/obo/ENVO_00000015	ocean	http://purl.obolibrary.org/obo/ENVO_01001319	saline water body		A marine water body which is constitutes the majority of an astronomical body's hydrosphere.
http://purl.obolibrary.org/obo/ENVO_00000339	piece of rock	http://purl.obolibrary.org/obo/ENVO_01001687	mass of solid material		A mass of solid material which is composed primarily of rock.
http://purl.obolibrary.org/obo/ENVO_00000343	particle of silt	http://purl.obolibrary.org/obo/ENVO_01003002	particle		A particle which 1) is primarily composed of quartz or feldspar and 2) is or was part of a portion of silt.
http://purl.obolibrary.org/obo/ENVO_00001999	marine water body	http://purl.obolibrary.org/obo/ENVO_01000617	lentic water body		A lentic water body which is composed primarily of marine water.
http://purl.obolibrary.org/obo/ENVO_00002010	saline water	http://purl.obolibrary.org/obo/ENVO_00002006	liquid water		Water which contains a significant concentration of dissolved salts.
http://purl.obolibrary.org/obo/ENVO_00002030	aquatic biome	http://purl.obolibrary.org/obo/ENVO_00000428	biome		A biome which is determined by a water body and which has ecological climax communities adapted to life in or on water.
http://purl.obolibrary.org/obo/ENVO_00002114	chemically enriched sediment	http://purl.obolibrary.org/obo/ENVO_00002007	sediment		Sediment which has increased levels of one or more chemical compounds.
http://purl.obolibrary.org/obo/ENVO_00002149	sea water	http://purl.obolibrary.org/obo/ENVO_00002010	saline water		Water which has physicochemical properties that have been determined by the processes occuring in a sea or ocean.
http://purl.obolibrary.org/obo/ENVO_00002202	organically enriched sediment	http://purl.obolibrary.org/obo/ENVO_00002114	chemically enriched sediment		Chemically-enriched sediment which has increased levels of organic compounds.
http://purl.obolibrary.org/obo/ENVO_00002203	inorganically enriched sediment	http://purl.obolibrary.org/obo/ENVO_00002114	chemically enriched sediment		Chemically-enriched sediment which has increased levels of inorganic compounds.
http://purl.obolibrary.org/obo/ENVO_00003082	enriched soil	http://purl.obolibrary.org/obo/ENVO_00001998	soil		A portion of enriched soil is a portion of soil with elevated levels of some material entity.
http://purl.obolibrary.org/obo/ENVO_00003092	salicylate enriched soil	http://purl.obolibrary.org/obo/ENVO_00003082	enriched soil		A portion of salicylate enriched soil is a portion of soil with elevated levels of salicylate.
http://purl.obolibrary.org/obo/ENVO_00005748	dry soil	http://purl.obolibrary.org/obo/ENVO_00001998	soil		Soil which has little to no water content and in which minerals and other soluble chemical entities have either bonded or become adsorbed to sold particles due to insufficient water availability.
http://purl.obolibrary.org/obo/ENVO_00005753	urea enriched soil	http://purl.obolibrary.org/obo/ENVO_00003082	enriched soil		A portion of urea enriched soil is a portion of soil with elevated levels of urea.
http://purl.obolibrary.org/obo/ENVO_00005800	desert sand	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		Sand which is part of a desert.
http://purl.obolibrary.org/obo/ENVO_01000060	particulate environmental material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		An environmental material which is composed primarily of particles.
http://purl.obolibrary.org/obo/ENVO_01000176	shrubland biome	http://purl.obolibrary.org/obo/ENVO_00000446	terrestrial biome		A shrubland biome is a terrestrial biome which includes, across its entire spatial extent, dense groups of shrubs.
http://purl.obolibrary.org/obo/ENVO_01000179	desert biome	http://purl.obolibrary.org/obo/ENVO_00000428	biome		A desert ecosystem which is undergoing climactic ecological succession.
http://purl.obolibrary.org/obo/ENVO_01000216	montane shrubland biome	http://purl.obolibrary.org/obo/ENVO_01000176	shrubland biome		A montane shrubland biome is a shrubland biome which occurs in regions elevated above sea level and which has community structure determined by elevation-dependent environmental conditions.
http://purl.obolibrary.org/obo/ENVO_01000230	arid	http://purl.obolibrary.org/obo/ENVO_01000203	environmental condition		An environmental condition in which annual precipitation is less than half of annual potential evapotranspiration.
http://purl.obolibrary.org/obo/ENVO_01000283	lake layer	http://purl.obolibrary.org/obo/ENVO_01001308	hydroform		A layer which is part of a lake.
http://purl.obolibrary.org/obo/ENVO_01000303	endolithic environment	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		An endolithic environment is an environment that exists within solid rock.
http://purl.obolibrary.org/obo/ENVO_01000304	high pressure environment	http://purl.obolibrary.org/obo/ENVO_01000997	environmental system determined by a quality		A high pressure environment is an environment in which all material entities are exposed to a high ratio of force per unit area.
http://purl.obolibrary.org/obo/ENVO_01000305	high temperature environment	http://purl.obolibrary.org/obo/ENVO_01000997	environmental system determined by a quality		A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy.
http://purl.obolibrary.org/obo/ENVO_01000307	saline water environment	http://purl.obolibrary.org/obo/ENVO_01001040	saline environment		An environmental system which has its properties and dynamics determined by saline water.
http://purl.obolibrary.org/obo/ENVO_01000309	cold environment	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		An environment which has a lower temperature than some local or global average.
http://purl.obolibrary.org/obo/ENVO_01000313	anthropogenic environment	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		An anthropogenic environment is an environmental system which is the product of human activity.
http://purl.obolibrary.org/obo/ENVO_01000314	high osmolarity environment	http://purl.obolibrary.org/obo/ENVO_01000997	environmental system determined by a quality		A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes.
http://purl.obolibrary.org/obo/ENVO_01000321	sea water environment	http://purl.obolibrary.org/obo/ENVO_01000307	saline water environment		An environmental system determined by seawater.
http://purl.obolibrary.org/obo/ENVO_01000323	atmospheric boundary layer	http://purl.obolibrary.org/obo/ENVO_01000544	boundary layer		The atmospheric boundary layer is the lowest layer of an atmosphere which is strongly influenced by its contact with a planetary surface with strong vertical mixing and in which physical quantities such as flow velocity, temperature, and moisture display rapid fluctuations (turbulence).
http://purl.obolibrary.org/obo/ENVO_01000324	planetary surface	http://purl.obolibrary.org/obo/ENVO_01001483	surface of an astronomical body		A planetary surface is a surface layer where the solid or liquid material of a planet comes into contact with an atmosphere or outer space.
http://purl.obolibrary.org/obo/ENVO_01000334	talus slope	http://purl.obolibrary.org/obo/ENVO_00002000	slope		A talus slope is a slope which has a surface layer composed of scree.
http://purl.obolibrary.org/obo/ENVO_01000355	vegetation layer	http://purl.obolibrary.org/obo/ENVO_01000281	layer		A layer which is determined by a form of vegetation.
http://purl.obolibrary.org/obo/ENVO_01000420	building part	http://purl.obolibrary.org/obo/ENVO_00000070	human construction		A building part is a construction which is part of a building.
http://purl.obolibrary.org/obo/ENVO_01000452	environmental disposition	http://purl.obolibrary.org/obo/BFO_0000016	disposition		A disposition which is realised by an environmental system or system parts thereof.
http://purl.obolibrary.org/obo/ENVO_01000543	atmospheric layer	http://purl.obolibrary.org/obo/ENVO_01001678	fluid layer		A layer that is part of the atmosphere.
http://purl.obolibrary.org/obo/ENVO_01000554	hydrocarbon gas	http://purl.obolibrary.org/obo/ENVO_01000797	gaseous environmental material		A gas that is primarily composed of hydrocarbon molecules.
http://purl.obolibrary.org/obo/ENVO_01000639	planetary structural layer	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		A planetary structural layer is laminar part of a terrestrial planet or other rocky body large enough to have differentiation by density. Planetary layers have differing physicochemical properties and composition.
http://purl.obolibrary.org/obo/ENVO_01000658	dense settlement	http://purl.obolibrary.org/obo/ENVO_01001829	human settlement		A settlement with a high density of buildings and inhabitants.
http://purl.obolibrary.org/obo/ENVO_01000665	waste role	http://purl.obolibrary.org/obo/BFO_0000023	role		A role that is realized in some process wherein the bearer is discarded or not utilized further.
http://purl.obolibrary.org/obo/ENVO_01000676	contaminated air	http://purl.obolibrary.org/obo/ENVO_00002005	air		Contaminated air is air which has sufficient concentrations of environmental pollutants such that it may adversely affect a given ecosystem.
http://purl.obolibrary.org/obo/ENVO_01000680	polluted lake	http://purl.obolibrary.org/obo/ENVO_00000020	lake		A lake which has concentrations of environmental contaminants high enough to harm the ecosystems associated with it.
http://purl.obolibrary.org/obo/ENVO_01000685	water mass	http://purl.obolibrary.org/obo/ENVO_01001476	body of liquid		A mass of water.
http://purl.obolibrary.org/obo/ENVO_01000755	aeroform	http://purl.obolibrary.org/obo/ENVO_01001478	gaseous astronomical body part		A part of an astronomical body which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes.
http://purl.obolibrary.org/obo/ENVO_01000846	water ice crystal	http://purl.obolibrary.org/obo/ENVO_01000845	crystal		A crystal which is primarily composed of water ice.
http://purl.obolibrary.org/obo/ENVO_01000870	ground deformation process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		A process in which a solid planetary surface is deformed.
http://purl.obolibrary.org/obo/ENVO_01001306	bone element environment	http://purl.obolibrary.org/obo/ENVO_2100000	anatomical entity environment		An environment which is determined by a bone element.
http://purl.obolibrary.org/obo/ENVO_01001308	hydroform	http://purl.obolibrary.org/obo/ENVO_01001477	liquid astronomical body part		A liquid astronomical body part which is primarily composed of a continuous volume of liquid water and is held in shape or sustained by an environmental process.
http://purl.obolibrary.org/obo/ENVO_02000099	coal dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is derived from coal.
http://purl.obolibrary.org/obo/ENVO_02000100	mineral dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is derived from mineral material.
http://purl.obolibrary.org/obo/ENVO_02000101	fibrous dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is composed of fibrous material.
http://purl.obolibrary.org/obo/ENVO_02000103	metallic dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is composed primarily of some metallic material.
http://purl.obolibrary.org/obo/ENVO_02000105	clay dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is derived from clay material.
http://purl.obolibrary.org/obo/ENVO_02500003	atmospheric process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		A process which occurs within an atmosphere.
http://purl.obolibrary.org/obo/ENVO_02500026	anthropogenic modulatory intervention process	http://purl.obolibrary.org/obo/BFO_0000015	process		A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process.
http://purl.obolibrary.org/obo/ENVO_02500027	anthropogenic environmental process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		An environmental process which is driven by the action of humans.
http://purl.obolibrary.org/obo/ENVO_09000004	amount of carbon atom in environmental material	http://purl.obolibrary.org/obo/PATO_0000070	amount		The amount of a carbon atom when measured in environmental material.
http://purl.obolibrary.org/obo/ENVO_09000005	amount of carbon atom in soil	http://purl.obolibrary.org/obo/ENVO_09000004	amount of carbon atom in environmental material		The amount of a carbon atom when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09000006	amount of carbon atom in water	http://purl.obolibrary.org/obo/ENVO_09000004	amount of carbon atom in environmental material		The amount of a carbon atom when measured in water.
http://purl.obolibrary.org/obo/ENVO_09000007	concentration of carbon atom in environmental material	http://purl.obolibrary.org/obo/ENVO_09000004	amount of carbon atom in environmental material		The concentration of a carbon atom when measured in environmental material.
http://purl.obolibrary.org/obo/ENVO_09000008	concentration of carbon atom in soil	http://purl.obolibrary.org/obo/ENVO_09000007	concentration of carbon atom in environmental material		The concentration of a carbon atom when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09000009	concentration of carbon atom in water	http://purl.obolibrary.org/obo/ENVO_09000007	concentration of carbon atom in environmental material		The concentration of a carbon atom when measured in water.
http://purl.obolibrary.org/obo/ENVO_09000013	amount of nitrogen atom in environmental material	http://purl.obolibrary.org/obo/PATO_0000070	amount		The amount of a nitrogen atom when measured in environmental material.
http://purl.obolibrary.org/obo/ENVO_09000014	amount of nitrogen atom in soil	http://purl.obolibrary.org/obo/ENVO_09000013	amount of nitrogen atom in environmental material		The amount of a nitrogen atom when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09000015	amount of nitrogen atom in water	http://purl.obolibrary.org/obo/ENVO_09000013	amount of nitrogen atom in environmental material		The amount of a nitrogen atom when measured in water.
http://purl.obolibrary.org/obo/ENVO_09000016	concentration of nitrogen atom in environmental material	http://purl.obolibrary.org/obo/ENVO_09000013	amount of nitrogen atom in environmental material		The concentration of a nitrogen atom when measured in environmental material.
http://purl.obolibrary.org/obo/ENVO_09000017	concentration of nitrogen atom in soil	http://purl.obolibrary.org/obo/ENVO_09000016	concentration of nitrogen atom in environmental material		The concentration of a nitrogen atom when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09000018	concentration of nitrogen atom in water	http://purl.obolibrary.org/obo/ENVO_09000016	concentration of nitrogen atom in environmental material		The concentration of a nitrogen atom when measured in water.
http://purl.obolibrary.org/obo/ENVO_09200002	environmental system process quality	http://purl.obolibrary.org/obo/PATO_0001236	process quality		The quality of a environmental system process.
http://purl.obolibrary.org/obo/ENVO_09200004	porosity of soil	http://purl.obolibrary.org/obo/ENVO_09200009	structure of soil		The porosity of some soil.
http://purl.obolibrary.org/obo/ENVO_09200005	mass density of soil	http://purl.obolibrary.org/obo/PATO_0001019	mass density		The mass density of some soil.
http://purl.obolibrary.org/obo/ENVO_09200006	concentration of ammonium in soil	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of a ammonium when measured in soil.
http://purl.obolibrary.org/obo/ENVO_09200008	composition of soil	http://purl.obolibrary.org/obo/ENVO_09200009	structure of soil		The composition of some soil.
http://purl.obolibrary.org/obo/ENVO_09200009	structure of soil	http://purl.obolibrary.org/obo/PATO_0000141	structure		The structure of some soil.
http://purl.obolibrary.org/obo/ENVO_2100000	anatomical entity environment	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		An environment which is determined by an anatomical entity.
http://purl.obolibrary.org/obo/ENVO_2100002	intestine environment	http://purl.obolibrary.org/obo/ENVO_01001033	digestive tract environment		An environmental system determined by an intestine.
http://purl.obolibrary.org/obo/ENVO_2100003	skin environment	http://purl.obolibrary.org/obo/ENVO_2100004	integumental system environment		An environment determined by an area or zone of skin tissue.
http://purl.obolibrary.org/obo/FOODON_00001002	food product	http://purl.obolibrary.org/obo/FOODON_00002403	food material		Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products.
http://purl.obolibrary.org/obo/FOODON_00001015	plant food product	http://purl.obolibrary.org/obo/FOODON_00001002	food product		A food product which has as a defining ingredient some plant material.
http://purl.obolibrary.org/obo/FOODON_00001046	animal seafood product	http://purl.obolibrary.org/obo/FOODON_00004242	animal food product		A seafood product is a vertebrate or invertibrate organism from an aquatic environment.
http://purl.obolibrary.org/obo/FOODON_00001092	vertebrate food product	http://purl.obolibrary.org/obo/FOODON_00004242	animal food product		A food product which is derived from or produced by an animal that has a vertibrae.
http://purl.obolibrary.org/obo/FOODON_00001143	fungus food product	http://purl.obolibrary.org/obo/FOODON_00001002	food product		A food product consisting of an edible fungi or mushroom or yeast.
http://purl.obolibrary.org/obo/FOODON_00001145	microbial food material	http://purl.obolibrary.org/obo/FOODON_03420116	organism material		Microbial material derived from one or more microorganisms including bacteria, mold, and yeast.
http://purl.obolibrary.org/obo/FOODON_00001180	prepared food product	http://purl.obolibrary.org/obo/FOODON_03311737	processed food		Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked.
http://purl.obolibrary.org/obo/FOODON_00001184	algae material	http://purl.obolibrary.org/obo/FOODON_03420116	organism material		Material which derives from algae (including single-celled microalgae and  multicellular macroalgae).
http://purl.obolibrary.org/obo/FOODON_00001248	fish food product	http://purl.obolibrary.org/obo/FOODON_00001092	vertebrate food product		A fish food product includes products made from any fish species (aquatic vertebrate with gills and fins).
http://purl.obolibrary.org/obo/FOODON_00001256	dairy food product	http://purl.obolibrary.org/obo/FOODON_00001092	vertebrate food product		A dairy food product has mammilian milk or a milk component as an ingredient.
http://purl.obolibrary.org/obo/FOODON_00001258	food (fermented)	http://purl.obolibrary.org/obo/FOODON_00002501	multi-component food		Food material which has been fermented.
http://purl.obolibrary.org/obo/HP_0031105	Abnormal uterus morphology	http://purl.obolibrary.org/obo/HP_0000130	Abnormality of the uterus		Any anomaly of the structure of the uterus
http://purl.obolibrary.org/obo/FOODON_00002403	food material	http://purl.obolibrary.org/obo/BFO_0000040	material entity		Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience
http://purl.obolibrary.org/obo/MONDO_0021204	chronic otitis media	http://purl.obolibrary.org/obo/MONDO_0005441	otitis media		Chronic form of otitis media (disease).
http://purl.obolibrary.org/obo/MONDO_0021218	placenta neoplasm	http://purl.obolibrary.org/obo/MONDO_0021353	tumor of uterus		A neoplasm (disease) that involves the placenta.
http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm	http://purl.obolibrary.org/obo/MONDO_0005586	head and neck neoplasm		A neoplasm (disease) that involves the eye.
http://purl.obolibrary.org/obo/MONDO_0021221	vestibulocochlear nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002633	cranial nerve neoplasm		A neoplasm (disease) that involves the vestibulocochlear nerve.
http://purl.obolibrary.org/obo/MONDO_0021222	lacrimal gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0024625	disorder of lacrimal gland		A neoplasm (disease) that involves the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0021224	iris neoplasm	http://purl.obolibrary.org/obo/MONDO_0021225	uvea neoplasm		A neoplasm (disease) that involves the iris.
http://purl.obolibrary.org/obo/MONDO_0021225	uvea neoplasm	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		A neoplasm (disease) that involves the uvea.
http://purl.obolibrary.org/obo/MONDO_0021227	adrenal gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		A neoplasm (disease) that involves the adrenal gland.
http://purl.obolibrary.org/obo/MONDO_0021228	brainstem neoplasm	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A neoplasm (disease) that involves the brainstem.
http://purl.obolibrary.org/obo/MONDO_0021229	ciliary body neoplasm	http://purl.obolibrary.org/obo/MONDO_0021224	iris neoplasm		A neoplasm (disease) that involves the ciliary body.
http://purl.obolibrary.org/obo/MONDO_0021231	retina neoplasm	http://purl.obolibrary.org/obo/MONDO_0021248	nervous system neoplasm		A neoplasm (disease) that involves the retina.
http://purl.obolibrary.org/obo/MONDO_0021232	pineal body neoplasm	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A neoplasm (disease) that involves the pineal body.
http://purl.obolibrary.org/obo/MONDO_0021233	ear neoplasm	http://purl.obolibrary.org/obo/MONDO_0021205	disorder of ear		A neoplasm (disease) that involves the ear.
http://purl.obolibrary.org/obo/MONDO_0021235	external ear neoplasm	http://purl.obolibrary.org/obo/MONDO_0021233	ear neoplasm		A neoplasm (disease) that involves the external ear.
http://purl.obolibrary.org/obo/MONDO_0021237	adrenal medulla neoplasm	http://purl.obolibrary.org/obo/MONDO_0021227	adrenal gland neoplasm		A neoplasm (disease) that involves the adrenal medulla.
http://purl.obolibrary.org/obo/MONDO_0021238	cornea neoplasm	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		A neoplasm (disease) that involves the cornea.
http://purl.obolibrary.org/obo/MONDO_0021259	prostate neoplasm	http://purl.obolibrary.org/obo/MONDO_0006054	reproductive system neoplasm		A neoplasm (disease) that involves the prostate gland.
http://purl.obolibrary.org/obo/HP_0025579	Abnormal left atrium morphology	http://purl.obolibrary.org/obo/HP_0005120	Abnormal cardiac atrium morphology		Any structural abnormality of the left atrium.
http://purl.obolibrary.org/obo/HP_0031651	Abnormal tricuspid valve physiology	http://purl.obolibrary.org/obo/HP_0031650	Abnormal atrioventricular valve physiology		Any functional defect of the tricuspid valve.
http://purl.obolibrary.org/obo/CHEBI_139592	tertiary alpha-hydroxy ketone	http://purl.obolibrary.org/obo/CHEBI_139588	alpha-hydroxy ketone		An α-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups.
http://purl.obolibrary.org/obo/ENVO_01001176	environment associated with an aquatic invertebrate	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		An environment which has its properties and composition largely determined by the presence of a metazoan which lacks a vetebral column and which has a habitat that is found in an aquatic environmental system.
http://purl.obolibrary.org/obo/ENVO_01001179	cnidarian-associated environment	http://purl.obolibrary.org/obo/ENVO_01001002	animal-associated environment		An environmental system determined by a cnidarian or part of a cnidarian.
http://purl.obolibrary.org/obo/ENVO_01001199	terrestrial environmental zone	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		An environmental zone which is bounded by material parts of a land mass or the atmosphere or space adjacent to it.
http://purl.obolibrary.org/obo/ENVO_01001200	anthropised terrestrial environmental zone	http://purl.obolibrary.org/obo/ENVO_01001199	terrestrial environmental zone		A terrestrial zone which is bounded by constructed, manufactured, or other anthropogenic material entities.
http://purl.obolibrary.org/obo/ENVO_01001201	marine environmental zone	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		An astronomical body part which is part of a marine environment.
http://purl.obolibrary.org/obo/ENVO_01001220	water accumulation process	http://purl.obolibrary.org/obo/ENVO_02500031	hydrological process		A process during which liquid water accumulates in a site, most often in some form of container.
http://purl.obolibrary.org/obo/ENVO_01001226	terrestrial natural environment	http://purl.obolibrary.org/obo/ENVO_01000951	natural environment		A natural environment which is located on a land mass.
http://purl.obolibrary.org/obo/ENVO_01001227	aquatic natural environment	http://purl.obolibrary.org/obo/ENVO_01000951	natural environment		A natural environment which is within a water body.
http://purl.obolibrary.org/obo/ENVO_01001273	liquid layer	http://purl.obolibrary.org/obo/ENVO_01001678	fluid layer		A layer which is primarily composed of some liquid material.
http://purl.obolibrary.org/obo/ENVO_01001275	solid layer	http://purl.obolibrary.org/obo/ENVO_01000281	layer		A layer which is primarily composed of some solid material, allowing for non-solid parts such as interstitial pockets of gas or liquid.
http://purl.obolibrary.org/obo/ENVO_01001276	water ice layer	http://purl.obolibrary.org/obo/ENVO_03000110	cryoform		A solid layer which is primarily composed of some water-based ice.
http://purl.obolibrary.org/obo/ENVO_01001282	silica dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is composed primarily of slicon dioxide.
http://purl.obolibrary.org/obo/ENVO_01001284	barium dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is primarily composed of barium particles.
http://purl.obolibrary.org/obo/ENVO_01001285	talc dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is primarily composed of hydrated magnesium silicate (talc) particles.
http://purl.obolibrary.org/obo/ENVO_01001286	slate dust	http://purl.obolibrary.org/obo/ENVO_00002008	dust		Dust which is primarily composed of slate particles.
http://purl.obolibrary.org/obo/ENVO_01001288	kaolin dust	http://purl.obolibrary.org/obo/ENVO_02000100	mineral dust		Dust which is primarily composed of kaolinite particles.
http://purl.obolibrary.org/obo/ENVO_01001299	atmospheric zone	http://purl.obolibrary.org/obo/ENVO_01000408	environmental zone		An environmental zone which is part of an atmosphere.
http://purl.obolibrary.org/obo/ENVO_01001309	liquid air-water interface layer	http://purl.obolibrary.org/obo/ENVO_01001310	liquid surface layer		A liquid surface layer which is in contact with air.
http://purl.obolibrary.org/obo/ENVO_01001310	liquid surface layer	http://purl.obolibrary.org/obo/ENVO_01001273	liquid layer		A surface layer which is composed primarily of some liquid.
http://purl.obolibrary.org/obo/ENVO_01001311	solid surface layer	http://purl.obolibrary.org/obo/ENVO_01001275	solid layer		A surface layer which is composed primarily of solid environmental material.
http://purl.obolibrary.org/obo/ENVO_01001319	saline water body	http://purl.obolibrary.org/obo/ENVO_00000063	water body		A body of water which is primarily composed of saline water.
http://purl.obolibrary.org/obo/ENVO_01001357	desert	http://purl.obolibrary.org/obo/ENVO_01001884	surface landform		A landform which has been rendered barren or partially barren by environmental extremes, especially by low rainfall, and which loses more liquid water by evapotranspiration than is supplied by precipitation.
http://purl.obolibrary.org/obo/MONDO_0024574	von Willebrand disease (hereditary or acquired)	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.
http://purl.obolibrary.org/obo/HP_0031879	Abnormal eyelid physiology	http://purl.obolibrary.org/obo/HP_0032040	Abnormal ocular adnexa physiology		Any functional abnormality of the eyelid.
http://purl.obolibrary.org/obo/HP_0410167	Abnormal morphology of the chest musculature	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		Any abnormality of the chest muscles.
http://purl.obolibrary.org/obo/HP_0410168	Abnormality of the back musculature	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		Any abnormality of the back muscles.
http://purl.obolibrary.org/obo/HP_0410169	Abnormal morphology of the shoulder musculature	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		Any abnormality of the shoulder muscles.
http://purl.obolibrary.org/obo/HP_0410170	Hippocampal atrophy	http://purl.obolibrary.org/obo/HP_0025100	Abnormal hippocampus morphology		Partial or complete wasting (loss) of hippocampus tissue that was once present.
http://purl.obolibrary.org/obo/HP_0031970	Abnormal blood urea nitrogen concentration	http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration		Any deviation from the normal concentration of urea nitrogen in the blood.
http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A disorder of the nervous system related to a vascular etiology.
http://purl.obolibrary.org/obo/MONDO_0044778	nodular lymphocyte predominant Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0004952	Hodgkins lymphoma		A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)
http://purl.obolibrary.org/obo/CHEBI_46209	L-tyrosinal	http://purl.obolibrary.org/obo/CHEBI_22492	amino aldehyde		An amino aldehyde that is <small>L</small>-tyrosine in which the carboxy group has undergone formal redution to give the corrresponding aldehyde
http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to environmental material.
http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to organic molecular entity.
http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to organic cyclic compound.
http://purl.obolibrary.org/obo/ECTO_0000173	exposure to corticosteroid	http://purl.obolibrary.org/obo/ECTO_0002002	exposure to steroid		An exposure to corticosteroid.
http://purl.obolibrary.org/obo/ECTO_0000200	exposure to lipid	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to lipid.
http://purl.obolibrary.org/obo/ECTO_0000207	exposure to carbon monoxide	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to carbon monoxide.
http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		An exposure to chemical entity.
http://purl.obolibrary.org/obo/ECTO_0000258	exposure to steroid hormone	http://purl.obolibrary.org/obo/ECTO_0002002	exposure to steroid		An exposure to steroid hormone.
http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to oxygen molecular entity.
http://purl.obolibrary.org/obo/ECTO_0000439	exposure to formaldehyde	http://purl.obolibrary.org/obo/ECTO_9002168	exposure to aldehyde		An exposure to formaldehyde.
http://purl.obolibrary.org/obo/ECTO_0000481	exposure to transition element	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to transition element molecular entity.
http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect	http://purl.obolibrary.org/obo/ECTO_0010000	exposure to environmental quality		An exposure to biological role.
http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application	http://purl.obolibrary.org/obo/ECTO_0010000	exposure to environmental quality		An exposure to application.
http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role	http://purl.obolibrary.org/obo/ECTO_0010000	exposure to environmental quality		An exposure to chemical role.
http://purl.obolibrary.org/obo/ECTO_0000496	exposure to alkylating agent	http://purl.obolibrary.org/obo/ECTO_0000523	exposure to mutagen		An exposure to alkylating agent.
http://purl.obolibrary.org/obo/ECTO_0000515	exposure to herbicide	http://purl.obolibrary.org/obo/ECTO_0000530	exposure to pesticide		An exposure to herbicide.
http://purl.obolibrary.org/obo/ECTO_0000516	exposure to hormone	http://purl.obolibrary.org/obo/ECTO_0000672	exposure to agonist		An exposure to hormone.
http://purl.obolibrary.org/obo/ECTO_0000522	exposure to mitochondrial respiratory-chain inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to mitochondrial respiratory-chain inhibitor.
http://purl.obolibrary.org/obo/ECTO_0000523	exposure to mutagen	http://purl.obolibrary.org/obo/ECTO_0000724	exposure to genotoxin		An exposure to mutagen.
http://purl.obolibrary.org/obo/ECTO_0000524	exposure to mycotoxin	http://purl.obolibrary.org/obo/ECTO_0000537	exposure to toxin		An exposure to mycotoxin.
http://purl.obolibrary.org/obo/ECTO_0000526	exposure to neurotransmitter	http://purl.obolibrary.org/obo/ECTO_0000543	exposure to molecular messenger		An exposure to neurotransmitter.
http://purl.obolibrary.org/obo/ECTO_0000530	exposure to pesticide	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to pesticide.
http://purl.obolibrary.org/obo/ECTO_0000537	exposure to toxin	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to toxin.
http://purl.obolibrary.org/obo/ECTO_0000543	exposure to molecular messenger	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to molecular messenger.
http://purl.obolibrary.org/obo/ECTO_0000544	exposure to antimicrobial agent	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to antimicrobial agent.
http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to inhibitor.
http://purl.obolibrary.org/obo/ECTO_0000590	exposure to vasodilator agent	http://purl.obolibrary.org/obo/ECTO_0000509	exposure to drug		An exposure to vasodilator agent.
http://purl.obolibrary.org/obo/ECTO_0000637	exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000522	exposure to mitochondrial respiratory-chain inhibitor		An exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_0000650	exposure to Bronsted acid	http://purl.obolibrary.org/obo/ECTO_9002146	exposure to acids		An exposure to Bronsted acid.
http://purl.obolibrary.org/obo/ECTO_0000657	exposure to disinfectant	http://purl.obolibrary.org/obo/ECTO_0000544	exposure to antimicrobial agent		An exposure to disinfectant.
http://purl.obolibrary.org/obo/ECTO_0000672	exposure to agonist	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to agonist.
http://purl.obolibrary.org/obo/ECTO_0000689	exposure to P450 inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to P450 inhibitor.
http://purl.obolibrary.org/obo/ECTO_0000699	exposure to probe	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to probe.
http://purl.obolibrary.org/obo/ECTO_0000724	exposure to genotoxin	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to genotoxin.
http://purl.obolibrary.org/obo/ECTO_0000725	exposure to carcinogenic agent	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to carcinogenic agent.
http://purl.obolibrary.org/obo/ECTO_0000726	exposure to allergen	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to allergen.
http://purl.obolibrary.org/obo/ECTO_0000730	exposure to neurotoxin	http://purl.obolibrary.org/obo/ECTO_0000485	exposure to chemical with biological effect		An exposure to neurotoxin.
http://purl.obolibrary.org/obo/ECTO_0000738	exposure to ligand	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to ligand.
http://purl.obolibrary.org/obo/ECTO_0000750	exposure to biomarker	http://purl.obolibrary.org/obo/ECTO_0000486	exposure to chemical with application		An exposure to biomarker.
http://purl.obolibrary.org/obo/ECTO_0000776	exposure to signalling molecule	http://purl.obolibrary.org/obo/ECTO_0000543	exposure to molecular messenger		An exposure to signalling molecule.
http://purl.obolibrary.org/obo/ECTO_0000922	exposure to EC 3.5.1.4 (amidase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	exposure to inhibitor		An exposure to EC 3.5.1.4 (amidase) inhibitor.
http://purl.obolibrary.org/obo/ECTO_0000931	exposure to environmental contaminant	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to environmental contaminant.
http://purl.obolibrary.org/obo/ECTO_0000979	exposure to temperature of environmental surroundings	http://purl.obolibrary.org/obo/ECTO_0010003	exposure to environmental physical object quality		A exposure event involving the interaction of an exposure receptor to temperature of environmental material.
http://purl.obolibrary.org/obo/ECTO_0000980	exposure to temperature of air in surroundings	http://purl.obolibrary.org/obo/ECTO_0000979	exposure to temperature of environmental surroundings		A exposure event involving the interaction of an exposure receptor to temperature of air.
http://purl.obolibrary.org/obo/ECTO_0001055	exposure to decreased air temperature	http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change		A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of air.
http://purl.obolibrary.org/obo/ECTO_0001057	exposure to decreased temperature	http://purl.obolibrary.org/obo/ECTO_0010003	exposure to environmental physical object quality		A exposure event involving the interaction of an exposure receptor to decreased temperature.
http://purl.obolibrary.org/obo/ECTO_0001082	exposure to alcohol consumption	http://purl.obolibrary.org/obo/ECTO_6000016	exposure to personal behavior		An exposure event involving Alcohol Consumption
http://purl.obolibrary.org/obo/ECTO_0001108	exposure to aflatoxin	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to aflatoxin.
http://purl.obolibrary.org/obo/ECTO_0001152	exposure to organochlorine compound	http://purl.obolibrary.org/obo/ECTO_9000077	exposure to chlorine		An exposure to organochlorine compound.
http://purl.obolibrary.org/obo/ECTO_0001566	exposure to cadmium	http://purl.obolibrary.org/obo/ECTO_0000481	exposure to transition element		An exposure to cadmium molecular entity.
http://purl.obolibrary.org/obo/ECTO_0001571	exposure to mercury	http://purl.obolibrary.org/obo/ECTO_0000481	exposure to transition element		An exposure to mercury molecular entity.
http://purl.obolibrary.org/obo/ECTO_0001659	exposure to chloroacetic acid	http://purl.obolibrary.org/obo/ECTO_0001152	exposure to organochlorine compound		An exposure to chloroacetic acid.
http://purl.obolibrary.org/obo/ECTO_0002002	exposure to steroid	http://purl.obolibrary.org/obo/ECTO_0000200	exposure to lipid		An exposure to steroid.
http://purl.obolibrary.org/obo/MONDO_0024616	tympanitis	http://purl.obolibrary.org/obo/MONDO_0005441	otitis media		An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.
http://purl.obolibrary.org/obo/MONDO_0024618	poliovirus infection	http://purl.obolibrary.org/obo/MONDO_0005747	enterovirus infectious disease		An disease or disorder caused by infection with Enterovirus C.
http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease	http://purl.obolibrary.org/obo/MONDO_7770006	disease by body system or component		Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.
http://purl.obolibrary.org/obo/MONDO_0024625	disorder of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		A disease that involves the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A disease that involves the small intestine.
http://purl.obolibrary.org/obo/MONDO_0024639	gastric enterochromaffin cell serotonin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015062	gastric neuroendocrine tumor, well differentiated, low or intermediate grade		A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.
http://purl.obolibrary.org/obo/MONDO_0024642	gastric neuroendocrine tumor G2	http://purl.obolibrary.org/obo/MONDO_0015062	gastric neuroendocrine tumor, well differentiated, low or intermediate grade		A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.
http://purl.obolibrary.org/obo/MONDO_0024644	myocardial ischemia	http://purl.obolibrary.org/obo/MONDO_0024643	myocardial disorder		A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).
http://purl.obolibrary.org/obo/MONDO_0024647	urolithiasis	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		Stone(s) within the urinary tract.
http://purl.obolibrary.org/obo/MONDO_0024648	optic tract meningioma	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A meningioma that affects the visual pathway.
http://purl.obolibrary.org/obo/MONDO_0024649	optic tract astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016167	optic pathway glioma		An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.
http://purl.obolibrary.org/obo/MONDO_0024653	skull neoplasm	http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm		A benign or malignant neoplasm that affects the bones and structures of the skull.
http://purl.obolibrary.org/obo/MONDO_0024654	skull disorder	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		A non-neoplastic or neoplastic disorder that affects structures of the skull.
http://purl.obolibrary.org/obo/MONDO_0024656	colorectal lymphoma	http://purl.obolibrary.org/obo/MONDO_0005575	colorectal cancer		An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.
http://purl.obolibrary.org/obo/MONDO_0024658	extrahepatic bile duct sarcoma	http://purl.obolibrary.org/obo/MONDO_0021321	malignant tumor of extrahepatic bile duct		A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.
http://purl.obolibrary.org/obo/MONDO_0024659	colorectal Kaposi sarcoma	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		A Kaposi sarcoma that arises from the colon or rectum.
http://purl.obolibrary.org/obo/MONDO_0024660	tubular adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.
http://purl.obolibrary.org/obo/MONDO_0024661	tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	adenoma		An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0024662	colorectal tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0024661	tubulovillous adenoma		A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.
http://purl.obolibrary.org/obo/MONDO_0024666	benign epithelial skin neoplasm	http://purl.obolibrary.org/obo/MONDO_0021634	epithelial skin neoplasm		A form of epithelial skin neoplasm without malignant characteristics.
http://purl.obolibrary.org/obo/MONDO_0024673	skin lymphangioma	http://purl.obolibrary.org/obo/MONDO_0021440	benign neoplasm of skin		A lymphangioma arising from the skin.
http://purl.obolibrary.org/obo/MONDO_0024674	Pancoast syndrome	http://purl.obolibrary.org/obo/MONDO_0024882	secondary neoplasm		A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.
http://purl.obolibrary.org/obo/MONDO_0024675	adult kidney Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0019004	kidney Wilms tumor		Wilms tumor of the kidney which occurs in adults.
http://purl.obolibrary.org/obo/MONDO_0024676	childhood kidney Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0036511	childhood malignant kidney neoplasm		A Wilms tumor of the kidney which occurs in children.
http://purl.obolibrary.org/obo/MONDO_0024677	pancreatic insulinoma	http://purl.obolibrary.org/obo/MONDO_0023206	functional pancreatic neuroendocrine tumor		An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.
http://purl.obolibrary.org/obo/MONDO_0024711	malignant mixed epithelial stromal tumor of the kidney	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A mixed epithelial stromal tumor of the kidney with malignant stromal features.
http://purl.obolibrary.org/obo/MONDO_0024715	benign synovial neoplasm	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.
http://purl.obolibrary.org/obo/MONDO_0024797	adult brain stem neoplasm	http://purl.obolibrary.org/obo/MONDO_0021228	brainstem neoplasm		A brainstem neoplasm that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0024857	immature extragonadal teratoma	http://purl.obolibrary.org/obo/MONDO_0024746	immature teratoma		An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.
http://purl.obolibrary.org/obo/MONDO_0024868	metastatic carcinoma in the adrenal medulla	http://purl.obolibrary.org/obo/MONDO_0024879	metastatic carcinoma		A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.
http://purl.obolibrary.org/obo/MONDO_0024873	clitoral carcinoma	http://purl.obolibrary.org/obo/MONDO_0005215	vulvar carcinoma		A carcinoma that arises from the clitoris.
http://purl.obolibrary.org/obo/MONDO_0024876	tendon sheath disorder	http://purl.obolibrary.org/obo/MONDO_0100010	disease of the tendon		A disease that involves the tendon sheath.
http://purl.obolibrary.org/obo/MONDO_0024877	clitoris neoplasm	http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm		A neoplasm involving a clitoris.
http://purl.obolibrary.org/obo/MONDO_0024878	secondary carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.
http://purl.obolibrary.org/obo/MONDO_0024879	metastatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0024878	secondary carcinoma		A carcinoma which has spread from the original site of growth to another anatomic site.
http://purl.obolibrary.org/obo/MONDO_0024884	metastatic carcinoma in the bone	http://purl.obolibrary.org/obo/MONDO_0024879	metastatic carcinoma		A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate.
http://purl.obolibrary.org/obo/MONDO_0024886	serous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0006071	adenofibroma		A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.
http://purl.obolibrary.org/obo/MONDO_0024890	pineal parenchymal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0021232	pineal body neoplasm		A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)
http://purl.obolibrary.org/obo/MONDO_0024892	soft tissue amyloid neoplasm	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		A soft tissue neoplasm composed of acellular amyloid material.
http://purl.obolibrary.org/obo/MONDO_0024905	bird disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc.
http://purl.obolibrary.org/obo/MONDO_0024912	cat disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used.
http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.
http://purl.obolibrary.org/obo/MONDO_0024919	dog disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used.
http://purl.obolibrary.org/obo/MONDO_0024934	fish disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).
http://purl.obolibrary.org/obo/MONDO_0024935	foot rot	http://purl.obolibrary.org/obo/MONDO_0024990	swine disease		A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)
http://purl.obolibrary.org/obo/MONDO_0024950	horse disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of domestic and wild horses of the species Equus caballus.
http://purl.obolibrary.org/obo/MONDO_0024969	parasitic disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary.
http://purl.obolibrary.org/obo/MONDO_0024971	parturient paresis	http://purl.obolibrary.org/obo/MONDO_0025003	goat disease		A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes.
http://purl.obolibrary.org/obo/MONDO_0024981	rodent disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).
http://purl.obolibrary.org/obo/MONDO_0024982	salmonella infections, animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Infections in animals with bacteria of the genus salmonella.
http://purl.obolibrary.org/obo/MONDO_0024985	sheep disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of domestic and mountain sheep of the genus Ovis.
http://purl.obolibrary.org/obo/MONDO_0024990	swine disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of domestic swine and of the wild boar of the genus Sus.
http://purl.obolibrary.org/obo/MONDO_0025003	goat disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of the domestic or wild goat of the genus Capra.
http://purl.obolibrary.org/obo/MONDO_0025013	non-human primate disease	http://purl.obolibrary.org/obo/MONDO_0005583	non-human animal disease		Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini.
http://purl.obolibrary.org/obo/MONDO_0025028	vesicular stomatitis	http://purl.obolibrary.org/obo/MONDO_0700072	Rhabdoviridae infectious disease, non-human animal		A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness.
http://purl.obolibrary.org/obo/MONDO_0025061	edema disease of swine	http://purl.obolibrary.org/obo/MONDO_0024990	swine disease		An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.
http://purl.obolibrary.org/obo/MONDO_0025066	epidermitis, exudative, of swine	http://purl.obolibrary.org/obo/MONDO_0024990	swine disease		An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)
http://purl.obolibrary.org/obo/MONDO_0025082	helminthiasis, animal	http://purl.obolibrary.org/obo/MONDO_0024969	parasitic disease, non-human animal		Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.
http://purl.obolibrary.org/obo/MONDO_0025086	hip dysplasia, canine	http://purl.obolibrary.org/obo/MONDO_0024919	dog disease		A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.
http://purl.obolibrary.org/obo/MONDO_0025087	classical swine fever	http://purl.obolibrary.org/obo/MONDO_0700203	pestivirus infectious disease, non-human animal		An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality.
http://purl.obolibrary.org/obo/MONDO_0025089	infectious bovine rhinotracheitis	http://purl.obolibrary.org/obo/MONDO_0700214	Herpesviridae infectious disease, non-human animal		A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract.
http://purl.obolibrary.org/obo/MONDO_0025095	malaria, avian	http://purl.obolibrary.org/obo/MONDO_0700114	vector-borne disease, non-human animal		Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria.
http://purl.obolibrary.org/obo/MONDO_0025096	malignant catarrh	http://purl.obolibrary.org/obo/MONDO_0700214	Herpesviridae infectious disease, non-human animal		A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte.
http://purl.obolibrary.org/obo/MONDO_0025100	mastitis, bovine	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		Inflammation of the udder in cows.
http://purl.obolibrary.org/obo/MONDO_0025113	poultry disease	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild.
http://purl.obolibrary.org/obo/MONDO_0025114	protozoan infections, animal	http://purl.obolibrary.org/obo/MONDO_0024969	parasitic disease, non-human animal		Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.
http://purl.obolibrary.org/obo/MONDO_0025129	swine erysipelas	http://purl.obolibrary.org/obo/MONDO_0700211	Erysipelothrix infectious disease, non-human animal		An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.
http://purl.obolibrary.org/obo/MONDO_0025130	swine vesicular disease	http://purl.obolibrary.org/obo/MONDO_0700210	enterovirus infectious disease, non-human animal		An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.
http://purl.obolibrary.org/obo/MONDO_0025135	tuberculosis, avian	http://purl.obolibrary.org/obo/MONDO_0700212	tuberculosis, non-human animal		A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells.
http://purl.obolibrary.org/obo/MONDO_0025136	tuberculosis, bovine	http://purl.obolibrary.org/obo/MONDO_0700212	tuberculosis, non-human animal		An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals.
http://purl.obolibrary.org/obo/MONDO_0025138	vesicular exanthema of swine	http://purl.obolibrary.org/obo/MONDO_0700208	Caliciviridae infectious disease, non-human animal		A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.
http://purl.obolibrary.org/obo/MONDO_0025139	white muscle disease	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)
http://purl.obolibrary.org/obo/MONDO_0025152	non-human ape disease	http://purl.obolibrary.org/obo/MONDO_0025013	non-human primate disease		Diseases of chimpanzees, gorillas, and orangutans.
http://purl.obolibrary.org/obo/MONDO_0025159	pneumonia of swine, mycoplasmal	http://purl.obolibrary.org/obo/MONDO_0024990	swine disease		A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection.
http://purl.obolibrary.org/obo/MONDO_0025163	white heifer disease	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile.
http://purl.obolibrary.org/obo/MONDO_0025167	reticuloendotheliosis, avian	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant.
http://purl.obolibrary.org/obo/MONDO_0025263	strongyle infections, equine	http://purl.obolibrary.org/obo/MONDO_0700209	Strongylida infectious disease, non-human animal		Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum.
http://purl.obolibrary.org/obo/MONDO_0025270	toxoplasmosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013566	coccidiosis, non-human animal		Acquired infection of non-human animals by organisms of the genus toxoplasma.
http://purl.obolibrary.org/obo/MONDO_0025271	trypanosomiasis, bovine	http://purl.obolibrary.org/obo/MONDO_0700213	trypanosomiasis, non-human animal		Infection in cattle caused by various species of trypanosomes.
http://purl.obolibrary.org/obo/MONDO_0025293	poult enteritis mortality syndrome	http://purl.obolibrary.org/obo/MONDO_0025113	poultry disease		An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections.
http://purl.obolibrary.org/obo/MONDO_0025369	Nairobi sheep disease	http://purl.obolibrary.org/obo/MONDO_0700202	Bunyaviridae infectious disease, non-human animal		An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.
http://purl.obolibrary.org/obo/MONDO_0025376	African horse sickness	http://purl.obolibrary.org/obo/MONDO_0700095	Reoviridae infectious disease, non-human animal		An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck.
http://purl.obolibrary.org/obo/MONDO_0025377	African swine fever	http://purl.obolibrary.org/obo/MONDO_0700201	tick-borne infectious disease, non-human animal		A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).
http://purl.obolibrary.org/obo/MONDO_0025381	avian leukosis	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere.
http://purl.obolibrary.org/obo/MONDO_0025385	bluetongue	http://purl.obolibrary.org/obo/MONDO_0700095	Reoviridae infectious disease, non-human animal		A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet.
http://purl.obolibrary.org/obo/MONDO_0025404	coronaviral enteritis of turkeys	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus.
http://purl.obolibrary.org/obo/MONDO_0025412	feline panleukopenia	http://purl.obolibrary.org/obo/MONDO_0700206	Parvoviridae infectious disease, non-human animal		A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus.
http://purl.obolibrary.org/obo/MONDO_0025420	gastroenteritis, transmissible, of swine	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus.
http://purl.obolibrary.org/obo/MONDO_0025431	keratoconjunctivitis, infectious	http://purl.obolibrary.org/obo/MONDO_0025003	goat disease		Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia.
http://purl.obolibrary.org/obo/MONDO_0025449	paratuberculosis	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.
http://purl.obolibrary.org/obo/MONDO_0025453	pneumonia, progressive interstitial, of sheep	http://purl.obolibrary.org/obo/MONDO_0024985	sheep disease		Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity.
http://purl.obolibrary.org/obo/MONDO_0025457	pulmonary adenomatosis, ovine	http://purl.obolibrary.org/obo/MONDO_0024985	sheep disease		A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus.
http://purl.obolibrary.org/obo/MONDO_0025459	rinderpest	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.
http://purl.obolibrary.org/obo/MONDO_0025478	venereal tumors, veterinary	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.
http://purl.obolibrary.org/obo/MONDO_0025484	simian acquired immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus.
http://purl.obolibrary.org/obo/MONDO_0025485	feline acquired immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv).
http://purl.obolibrary.org/obo/MONDO_0025488	leukemia, feline	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		A neoplastic disease of cats frequently associated with feline leukemia virus infection.
http://purl.obolibrary.org/obo/MONDO_0025491	feline infectious peritonitis	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis.
http://purl.obolibrary.org/obo/MONDO_0025494	porcine reproductive and respiratory syndrome	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
http://purl.obolibrary.org/obo/MONDO_0025505	mink viral enteritis	http://purl.obolibrary.org/obo/MONDO_0700206	Parvoviridae infectious disease, non-human animal		A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route.
http://purl.obolibrary.org/obo/MONDO_0025506	porcine postweaning multisystemic wasting syndrome	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2.
http://purl.obolibrary.org/obo/MONDO_0025510	pythiosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, and fishes. It is classified into three forms: ocular, cutaneous, and arterial.
http://purl.obolibrary.org/obo/MONDO_0025513	autoimmune urticaria	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune form of urticaria (disease).
http://purl.obolibrary.org/obo/MONDO_0025514	livedoid vasculopathy	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.
http://purl.obolibrary.org/obo/MONDO_0025598	pneumonia caused by chlamydia	http://purl.obolibrary.org/obo/MONDO_0041850	pneumonia caused by gram negative bacteria		An pneumonia caused by infection with Chlamydia.
http://purl.obolibrary.org/obo/MONDO_0027353	autosomal recessive dyskeratosis congenita 4	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.
http://purl.obolibrary.org/obo/MONDO_0027407	Kleefstra syndrome 1	http://purl.obolibrary.org/obo/MONDO_0012455	Kleefstra syndrome		An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
http://purl.obolibrary.org/obo/MONDO_0027451	autosomal recessive cutis laxa type 2D	http://purl.obolibrary.org/obo/MONDO_0019573	autosomal recessive cutis laxa type 2		An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
http://purl.obolibrary.org/obo/MONDO_0027462	autosomal recessive cutis laxa type 2C	http://purl.obolibrary.org/obo/MONDO_0019573	autosomal recessive cutis laxa type 2		An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
http://purl.obolibrary.org/obo/MONDO_0027676	congenital anomalies of kidney and urinary tract 2	http://purl.obolibrary.org/obo/MONDO_0019719	congenital anomaly of kidney and urinary tract		Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.
http://purl.obolibrary.org/obo/MONDO_0027766	generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0006573	lipodystrophy		Almost complete absence of subcutaneous and/or visceral adipose tissue.
http://purl.obolibrary.org/obo/MONDO_0027767	partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0006573	lipodystrophy		Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.
http://purl.obolibrary.org/obo/MONDO_0027772	lung colloid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.
http://purl.obolibrary.org/obo/MONDO_0029000	poisoning	http://purl.obolibrary.org/obo/MONDO_7770010	disease of primarily extrinsic mechanism		A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.
http://purl.obolibrary.org/obo/MONDO_0030602	Klebsiella pneumonia	http://purl.obolibrary.org/obo/MONDO_0004652	bacterial pneumonia		An pneumonia caused by infection with Klebsiella.
http://purl.obolibrary.org/obo/MONDO_0030604	cystic partially differentiated nephroblastoma	http://purl.obolibrary.org/obo/MONDO_0024676	childhood kidney Wilms tumor		A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.
http://purl.obolibrary.org/obo/MONDO_0030700	autoimmune glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune form of glomerulonephritis (disease).
http://purl.obolibrary.org/obo/MONDO_0030701	autoimmune cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy		An autoimmune form of cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0030702	autoimmune atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0005311	atherosclerosis		An autoimmune form of atherosclerosis.
http://purl.obolibrary.org/obo/MONDO_0030703	autoimmune vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		An autoimmune form of vasculitis.
http://purl.obolibrary.org/obo/MONDO_0030705	Trichomonas prostatitis	http://purl.obolibrary.org/obo/MONDO_0005280	prostatitis		Infection of the prostate gland caused by Trichomonas vaginalis.
http://purl.obolibrary.org/obo/MONDO_0030706	Trichomonas cystitis	http://purl.obolibrary.org/obo/MONDO_0006032	cystitis		An cystitis caused by infection with Trichomonas vaginalis.
http://purl.obolibrary.org/obo/MONDO_0030720	trichomonal vulvovaginitis	http://purl.obolibrary.org/obo/MONDO_0023557	infective vaginitis		An vulvovaginitis caused by infection with Trichomonas vaginalis.
http://purl.obolibrary.org/obo/MONDO_0030906	Trichomonas tenax infectious disease	http://purl.obolibrary.org/obo/MONDO_0002154	trichomoniasis		An disease or disorder caused by infection with Trichomonas tenax.
http://purl.obolibrary.org/obo/MONDO_0030915	intellectual disability, autosomal recessive 61	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.
http://purl.obolibrary.org/obo/MONDO_0031012	autoimmune uveitis	http://purl.obolibrary.org/obo/MONDO_0020283	uveitis		An autoimmune form of uveitis (disease).
http://purl.obolibrary.org/obo/MONDO_0031013	autoimmune optic neuritis	http://purl.obolibrary.org/obo/MONDO_0005885	optic neuritis		An autoimmune form of optic neuritis.
http://purl.obolibrary.org/obo/MONDO_0031014	autoimmune gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.
http://purl.obolibrary.org/obo/MONDO_0033004	polycystic kidney disease 4	http://purl.obolibrary.org/obo/MONDO_0009889	autosomal recessive polycystic kidney disease		A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.
http://purl.obolibrary.org/obo/MONDO_0033281	polycystic kidney disease 5	http://purl.obolibrary.org/obo/MONDO_0009889	autosomal recessive polycystic kidney disease		Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.
http://purl.obolibrary.org/obo/MONDO_0033364	developmental and epileptic encephalopathy, 55	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
http://purl.obolibrary.org/obo/MONDO_0033375	orofaciodigital syndrome 17	http://purl.obolibrary.org/obo/MONDO_1060154	INTU-related skeletal ciliopathy		An orofaciodigital syndrome caused by a mutation in the INTU gene.
http://purl.obolibrary.org/obo/MONDO_0033482	spinocerebellar ataxia 47	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.
http://purl.obolibrary.org/obo/MONDO_0033483	erythrocytosis, familial, 5	http://purl.obolibrary.org/obo/MONDO_0001115	familial polycythemia		Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.
http://purl.obolibrary.org/obo/MONDO_0033492	Coffin-Siris syndrome 6	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.
http://purl.obolibrary.org/obo/MONDO_0036501	refractory malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		A malignant neoplasm that does not respond to treatment.
http://purl.obolibrary.org/obo/MONDO_0036511	childhood malignant kidney neoplasm	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A malignant neoplasm that affects the kidney and occurs in childhood.
http://purl.obolibrary.org/obo/MONDO_0036595	ovarian Sertoli-Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0020807	ovarian sertoli-stromal cell tumor		A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.
http://purl.obolibrary.org/obo/MONDO_0036688	rhabdomyoma	http://purl.obolibrary.org/obo/MONDO_0003061	benign muscle neoplasm		A benign mesenchymal tumor arising from skeletal or cardiac muscle.
http://purl.obolibrary.org/obo/MONDO_0036779	axillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0021350	neoplasm of thorax		A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0036781	benign axillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0036779	axillary neoplasm		A non-metastasizing neoplasm that arises from the structures of the axilla.
http://purl.obolibrary.org/obo/MONDO_0036870	lymphatic vessel neoplasm	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		A benign or malignant neoplasm arising from the lymphatic vessels.
http://purl.obolibrary.org/obo/MONDO_0036915	benign ovarian mucinous tumor	http://purl.obolibrary.org/obo/MONDO_0003756	ovarian mucinous neoplasm		A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma.
http://purl.obolibrary.org/obo/MONDO_0036990	benign Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0024988	sex cord-stromal benign neoplasm		A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.
http://purl.obolibrary.org/obo/MONDO_0037105	lung germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0018201	extragonadal germ cell tumor		A germ cell tumor that arises from the lung.
http://purl.obolibrary.org/obo/MONDO_0037255	ovarian serous tumor	http://purl.obolibrary.org/obo/MONDO_0037256	serous neoplasm		A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0037735	sebaceous gland cancer	http://purl.obolibrary.org/obo/MONDO_0006963	sebaceous gland neoplasm		A cancer that involves the sebaceous gland.
http://purl.obolibrary.org/obo/MONDO_0037737	peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0016238	solitary fibrous tumor		A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.
http://purl.obolibrary.org/obo/MONDO_0037738	cauda equina cancer	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A cancer that involves the cauda equina.
http://purl.obolibrary.org/obo/MONDO_0037739	benign neoplasm of cauda equina	http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system		A benign neoplasm that involves the cauda equina.
http://purl.obolibrary.org/obo/MONDO_0037740	malignant central nervous system mesenchymal, non-meningothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024637	malignant soft tissue neoplasm		A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0037742	endometrioid stromal and related neoplasms	http://purl.obolibrary.org/obo/MONDO_0021148	female reproductive system neoplasm		A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0037743	mediastinal soft tissue cancer	http://purl.obolibrary.org/obo/MONDO_0024637	malignant soft tissue neoplasm		A malignant neoplasm that arises from the soft tissues of the mediastinum.
http://purl.obolibrary.org/obo/MONDO_0037746	malignant vaginal mixed epithelial and mesenchymal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005853	malignant mixed neoplasm		A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.
http://purl.obolibrary.org/obo/MONDO_0037748	hyperlipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		An elevated concentration of lipoproteins.
http://purl.obolibrary.org/obo/MONDO_0037807	glycerol metabolism disease	http://purl.obolibrary.org/obo/MONDO_0037792	carbohydrate metabolism disease		A disease that has its basis in the disruption of glycerol metabolic process.
http://purl.obolibrary.org/obo/MONDO_0037829	purine metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A disease that has its basis in the disruption of purine nucleobase metabolic process.
http://purl.obolibrary.org/obo/MONDO_0037870	valine metabolism disease	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		A disease that has its basis in the disruption of valine metabolic process.
http://purl.obolibrary.org/obo/MONDO_0037937	pyrimidine metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.
http://purl.obolibrary.org/obo/MONDO_0037940	inherited auditory system disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of auditory system disease that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0040503	blepharocheilodontic syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007339	blepharocheilodontic syndrome		Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.
http://purl.obolibrary.org/obo/MONDO_0040566	inherited glutathione metabolism disease	http://purl.obolibrary.org/obo/MONDO_0100473	disorder of peptide and amine metabolism		An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.
http://purl.obolibrary.org/obo/MONDO_0040673	malignant peritoneal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003113	extragonadal germ cell cancer		A malignant germ cell tumor that affects the peritoneum.
http://purl.obolibrary.org/obo/MONDO_0040676	great vessel cancer	http://purl.obolibrary.org/obo/MONDO_0002095	vascular cancer		A malignant neoplasm arising from the great vessels.
http://purl.obolibrary.org/obo/MONDO_0040677	invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.
http://purl.obolibrary.org/obo/MONDO_0040678	infiltrating urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0024337	urothelial neoplasm		A invasive carcinoma that involves the urothelium.
http://purl.obolibrary.org/obo/MONDO_0040679	urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0024337	urothelial neoplasm		A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.
http://purl.obolibrary.org/obo/MONDO_0040700	orbital dermoid cyst	http://purl.obolibrary.org/obo/MONDO_0015380	facial dermoid cyst		A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.
http://purl.obolibrary.org/obo/MONDO_0040753	latent tuberculosis infection	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.
http://purl.obolibrary.org/obo/MONDO_0040923	late latent syphilis	http://purl.obolibrary.org/obo/MONDO_0005822	latent syphilis		Latent syphilis when infection was acquired more than twelve months previously.
http://purl.obolibrary.org/obo/MONDO_0041095	malignant otitis externa caused by Pseudomonas aeruginosa	http://purl.obolibrary.org/obo/MONDO_0040732	Pseudomonas aeruginosa infectious disease		An malignant otitis externa caused by infection with Pseudomonas aeruginosa.
http://purl.obolibrary.org/obo/MONDO_0041167	carcinoid crisis	http://purl.obolibrary.org/obo/MONDO_0100347	carcinoid syndrome		A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.
http://purl.obolibrary.org/obo/MONDO_0041186	Rowell syndrome	http://purl.obolibrary.org/obo/MONDO_0005282	cutaneous lupus erythematosus		A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.
http://purl.obolibrary.org/obo/MONDO_0041259	diphtheritic myocarditis	http://purl.obolibrary.org/obo/MONDO_0005504	diphtheria		An myocarditis caused by infection with Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/MONDO_0041284	primary motor cortex epilepsy	http://purl.obolibrary.org/obo/MONDO_0044996	cerebral cortex disorder		A epilepsy that involves the primary motor cortex.
http://purl.obolibrary.org/obo/MONDO_0041447	metastatic malignant neoplasm in the colon	http://purl.obolibrary.org/obo/MONDO_0024880	metastatic malignant neoplasm		The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.
http://purl.obolibrary.org/obo/MONDO_0041535	mesenteric lymphadenitis due to Yersinia infection	http://purl.obolibrary.org/obo/MONDO_0007024	Yersinia pseudotuberculosis infectious disease		An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.
http://purl.obolibrary.org/obo/MONDO_0041536	Far-East scarlet-like fever	http://purl.obolibrary.org/obo/MONDO_0007024	Yersinia pseudotuberculosis infectious disease		A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.
http://purl.obolibrary.org/obo/MONDO_0042233	disseminated candidiasis	http://purl.obolibrary.org/obo/MONDO_0002026	candidiasis		Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.
http://purl.obolibrary.org/obo/MONDO_0042433	mycotic endocarditis	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		An endocarditis (disease) caused by infection with Fungi.
http://purl.obolibrary.org/obo/MONDO_0042458	Trichinella spiralis infectious disease	http://purl.obolibrary.org/obo/MONDO_0019444	trichinellosis		An disease or disorder caused by infection with Trichinella spiralis.
http://purl.obolibrary.org/obo/MONDO_0042487	uterine cervix carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0005131	cervical carcinoma		Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003
http://purl.obolibrary.org/obo/MONDO_0042493	gastric non-hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.
http://purl.obolibrary.org/obo/MONDO_0042494	childhood malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A melanoma that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0042495	arteriosclerotic retinopathy	http://purl.obolibrary.org/obo/MONDO_0002311	retinal vascular disorder		A arteriosclerosis disorder that involves the retina.
http://purl.obolibrary.org/obo/MONDO_0042496	ergotism	http://purl.obolibrary.org/obo/MONDO_0042497	mycotoxicosis		Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.
http://purl.obolibrary.org/obo/MONDO_0042727	sacrococcygeal teratoma	http://purl.obolibrary.org/obo/MONDO_0002601	teratoma		A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.
http://purl.obolibrary.org/obo/MONDO_0042963	wandering spleen	http://purl.obolibrary.org/obo/MONDO_0002332	splenic disorder		A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.
http://purl.obolibrary.org/obo/MONDO_0042964	Machado-Joseph disease type 4	http://purl.obolibrary.org/obo/MONDO_0007182	Machado-Joseph disease		A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.
http://purl.obolibrary.org/obo/MONDO_0042967	rheumatic disease of mitral valve	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		A rheumatologic disorder that involves the mitral valve.
http://purl.obolibrary.org/obo/MONDO_0042969	partial duplication of the long arm of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0042968	partial duplication of chromosome 12		Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0042970	disorder of glutamate decarboxylase	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A disease that has its basis in the disruption of glutamate decarboxylase activity.
http://purl.obolibrary.org/obo/MONDO_0042971	congenital herpes virus infection	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		An infectious embryofetopathy caused by infection with Herpesviridae.
http://purl.obolibrary.org/obo/MONDO_0042973	familial osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0042974	parainfluenza virus type 3 infectious disease	http://purl.obolibrary.org/obo/MONDO_0100197	parainfluenza infectious disease		Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.
http://purl.obolibrary.org/obo/MONDO_0042976	vitamin B deficiency	http://purl.obolibrary.org/obo/MONDO_0024298	vitamin deficiency disorder		A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.
http://purl.obolibrary.org/obo/MONDO_0042983	neurocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
http://purl.obolibrary.org/obo/MONDO_0043003	familial acanthosis nigricans	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0043089	acute posterior multifocal placoid pigment epitheliopathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.
http://purl.obolibrary.org/obo/MONDO_0043103	hypothyroidism due to iodide transport defect	http://purl.obolibrary.org/obo/MONDO_0018612	congenital hypothyroidism		A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.
http://purl.obolibrary.org/obo/MONDO_0043206	trichostasis spinulosa	http://purl.obolibrary.org/obo/MONDO_0006566	keratosis		Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.
http://purl.obolibrary.org/obo/MONDO_0043209	albinism	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.
http://purl.obolibrary.org/obo/MONDO_0043233	exfoliative dermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0043240	hemophilic arthropathy	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.
http://purl.obolibrary.org/obo/MONDO_0043243	leukoplakia	http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition		A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.
http://purl.obolibrary.org/obo/MONDO_0043247	Mallory-Weiss syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.
http://purl.obolibrary.org/obo/MONDO_0043264	post-traumatic epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)
http://purl.obolibrary.org/obo/MONDO_0043267	rheumatoid vasculitis	http://purl.obolibrary.org/obo/MONDO_0030703	autoimmune vasculitis		Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.
http://purl.obolibrary.org/obo/MONDO_0043275	TORCH syndrome	http://purl.obolibrary.org/obo/MONDO_0021670	post-infectious syndrome		A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.
http://purl.obolibrary.org/obo/MONDO_0043291	Rokitansky-Aschoff sinuses of the gallbladder	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.
http://purl.obolibrary.org/obo/MONDO_0043297	vibrio vulnificus infectious disease	http://purl.obolibrary.org/obo/MONDO_0007014	vibrio infectious disease		An disease or disorder caused by infection with Vibrio vulnificus.
http://purl.obolibrary.org/obo/MONDO_0043314	aquarium granuloma	http://purl.obolibrary.org/obo/MONDO_0020590	mycobacterial infectious disease		A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.
http://purl.obolibrary.org/obo/MONDO_0043317	amyopathic dermatomyositis	http://purl.obolibrary.org/obo/MONDO_1010096	clinically amyopathic dermatomyositis		A form of dermatomyositis characterized by the presence of typical skin finding swithout muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.
http://purl.obolibrary.org/obo/MONDO_0043320	piriformis syndrome	http://purl.obolibrary.org/obo/MONDO_0003615	nerve compression syndrome		A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.
http://purl.obolibrary.org/obo/MONDO_0043330	Mirizzi syndrome	http://purl.obolibrary.org/obo/MONDO_0006757	extrahepatic cholestasis		Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.
http://purl.obolibrary.org/obo/MONDO_0043349	intravascular papillary endothelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0024461	angiomatosis		A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.
http://purl.obolibrary.org/obo/MONDO_0043352	fournier gangrene	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.
http://purl.obolibrary.org/obo/MONDO_0043355	collagenous gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.
http://purl.obolibrary.org/obo/MONDO_0043358	engraftment syndrome	http://purl.obolibrary.org/obo/MONDO_0700222	disease related to hematopoietic stem cell transplant		A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.
http://purl.obolibrary.org/obo/MONDO_0043361	May-Thurner syndrome	http://purl.obolibrary.org/obo/MONDO_0005294	peripheral vascular disease		A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.
http://purl.obolibrary.org/obo/MONDO_0043364	eosinophil peroxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.
http://purl.obolibrary.org/obo/MONDO_0043370	secondary adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0000004	adrenocortical insufficiency		A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.
http://purl.obolibrary.org/obo/MONDO_0043373	sudden sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0020677	sudden hearing loss disorder		Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.
http://purl.obolibrary.org/obo/MONDO_0043377	juvenile spondyloarthropathy	http://purl.obolibrary.org/obo/MONDO_0005306	ankylosing spondylitis		A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.
http://purl.obolibrary.org/obo/MONDO_0043455	humoral hypercalcemia of malignancy	http://purl.obolibrary.org/obo/MONDO_0700253	paraneoplastic hematological syndrome		Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.
http://purl.obolibrary.org/obo/MONDO_0043458	radiation injury	http://purl.obolibrary.org/obo/MONDO_0021178	injury		Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.
http://purl.obolibrary.org/obo/MONDO_0043459	radiation-induced disorder	http://purl.obolibrary.org/obo/MONDO_7770010	disease of primarily extrinsic mechanism		A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.
http://purl.obolibrary.org/obo/MONDO_0043468	acne keloid	http://purl.obolibrary.org/obo/MONDO_0006552	folliculitis		A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.
http://purl.obolibrary.org/obo/MONDO_0043472	ectopic ACTH secretion syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)
http://purl.obolibrary.org/obo/MONDO_0043475	Adams-Stokes syndrome	http://purl.obolibrary.org/obo/MONDO_0008848	atrioventricular dissociation		An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.
http://purl.obolibrary.org/obo/MONDO_0043479	adenoviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.
http://purl.obolibrary.org/obo/MONDO_0043529	carcinoid heart disease	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.
http://purl.obolibrary.org/obo/MONDO_0043541	viral conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0020950	viral eye infection		Conjunctivitis resulting from viral infection.
http://purl.obolibrary.org/obo/MONDO_0043543	iatrogenic disease	http://purl.obolibrary.org/obo/MONDO_7770010	disease of primarily extrinsic mechanism		Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.
http://purl.obolibrary.org/obo/MONDO_0043544	nosocomial infection	http://purl.obolibrary.org/obo/MONDO_0043543	iatrogenic disease		An infection acquired in a hospital or other healthcare setting.
http://purl.obolibrary.org/obo/MONDO_0043555	infantile diarrhea	http://purl.obolibrary.org/obo/MONDO_0001517	dysentery		Diarrhea occurring in infants from newborn to 24-months old.
http://purl.obolibrary.org/obo/MONDO_0043576	endarteritis	http://purl.obolibrary.org/obo/MONDO_0043494	arteritis		Inflammation of the arterial intima.
http://purl.obolibrary.org/obo/MONDO_0043579	enteritis	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		Inflammation of the small intestine.
http://purl.obolibrary.org/obo/MONDO_0043653	herpes labialis	http://purl.obolibrary.org/obo/MONDO_0100330	disease arising from reactivation of latent virus		A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region.
http://purl.obolibrary.org/obo/MONDO_0043683	Leriche syndrome	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.
http://purl.obolibrary.org/obo/MONDO_0043768	thrombocytopenic purpura	http://purl.obolibrary.org/obo/MONDO_0019737	thrombotic microangiopathy		Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.
http://purl.obolibrary.org/obo/MONDO_0043777	rhinophyma	http://purl.obolibrary.org/obo/MONDO_0006607	sebaceous gland disorder		Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.
http://purl.obolibrary.org/obo/MONDO_0043789	serum sickness	http://purl.obolibrary.org/obo/MONDO_0007004	type III hypersensitivity disease		Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.
http://purl.obolibrary.org/obo/MONDO_0043839	ulcer disease	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.
http://purl.obolibrary.org/obo/MONDO_0043875	tumor lysis syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.
http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.
http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.
http://purl.obolibrary.org/obo/MONDO_0043923	lichen planus, oral	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.
http://purl.obolibrary.org/obo/MONDO_0043959	pseudolymphoma	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		A neoplastic process that resembles a malignant lymphoma, but has a benign course.
http://purl.obolibrary.org/obo/MONDO_0043969	nocturnal paroxysmal dystonia	http://purl.obolibrary.org/obo/MONDO_0100081	sleep disorder		A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.
http://purl.obolibrary.org/obo/MONDO_0043975	autonomic dysreflexia	http://purl.obolibrary.org/obo/MONDO_0001292	autonomic nervous system disorder		A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)
http://purl.obolibrary.org/obo/MONDO_0043988	zoster sine herpete	http://purl.obolibrary.org/obo/MONDO_0005609	herpes zoster		Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.
http://purl.obolibrary.org/obo/MONDO_0044001	hearing loss, mixed conductive-sensorineural	http://purl.obolibrary.org/obo/MONDO_0005365	hearing loss disorder		Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.
http://purl.obolibrary.org/obo/MONDO_0044013	puerperal disorder	http://purl.obolibrary.org/obo/MONDO_0700003	obstetric disorder		Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.
http://purl.obolibrary.org/obo/MONDO_0044014	postpartum thyroiditis	http://purl.obolibrary.org/obo/MONDO_0044013	puerperal disorder		A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum
http://purl.obolibrary.org/obo/MONDO_0044037	livedo reticularis	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.
http://purl.obolibrary.org/obo/MONDO_0044070	candidemia	http://purl.obolibrary.org/obo/MONDO_0044067	candidiasis, invasive		A form of invasive candidiasis where species of candida are present in the blood.
http://purl.obolibrary.org/obo/MONDO_0044079	cardio-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0005252	heart failure		A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.
http://purl.obolibrary.org/obo/MONDO_0044092	collagenous sprue	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.
http://purl.obolibrary.org/obo/MONDO_0044113	bullous systemic lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus		A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.
http://purl.obolibrary.org/obo/MONDO_0044137	vitreous body disorder	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Any disease affecting the vitreous body of the eye.
http://purl.obolibrary.org/obo/MONDO_0044138	hyalitis	http://purl.obolibrary.org/obo/MONDO_0044137	vitreous body disorder		Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.
http://purl.obolibrary.org/obo/MONDO_0044205	Shwachman-Diamond syndrome 2	http://purl.obolibrary.org/obo/MONDO_0009833	Shwachman-Diamond syndrome		Any Shwachman-Diamond syndrome in which the cause of the disease is a variation on the EFL1 gene, characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia.
http://purl.obolibrary.org/obo/MONDO_0044208	specific granule deficiency 2	http://purl.obolibrary.org/obo/MONDO_0009506	specific granule deficiency		Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).
http://purl.obolibrary.org/obo/MONDO_0044212	chronic idiopathic urticaria	http://purl.obolibrary.org/obo/MONDO_0044211	idiopathic urticaria		Chronic form of idiopathic urticaria.
http://purl.obolibrary.org/obo/MONDO_0044213	acute idiopathic urticaria	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute form of idiopathic urticaria.
http://purl.obolibrary.org/obo/MONDO_0044304	hyperphenylalaninemia due to DNAJC12 deficiency	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044306	neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044308	bardet-biedl syndrome 21	http://purl.obolibrary.org/obo/MONDO_0700374	CFAP418-related ciliopathy		BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).
http://purl.obolibrary.org/obo/MONDO_0044311	brachycephaly, trichomegaly, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044315	craniosynostosis 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).
http://purl.obolibrary.org/obo/MONDO_0044318	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044319	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	http://purl.obolibrary.org/obo/MONDO_0100598	autosomal recessive syndromic intellectual disability		IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044322	intellectual developmental disorder with neuropsychiatric features	http://purl.obolibrary.org/obo/MONDO_0100598	autosomal recessive syndromic intellectual disability		Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044323	Rahman syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044324	Al Kaissi syndrome	http://purl.obolibrary.org/obo/MONDO_0100598	autosomal recessive syndromic intellectual disability		Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044326	developmental delay and seizures with or without movement abnormalities	http://purl.obolibrary.org/obo/MONDO_1010097	DHDDS-related syndrome		DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).
http://purl.obolibrary.org/obo/MONDO_0044327	polycystic liver disease 4 with or without kidney cysts	http://purl.obolibrary.org/obo/MONDO_0000447	autosomal dominant polycystic liver disease		An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.
http://purl.obolibrary.org/obo/MONDO_0044328	short-rib thoracic dysplasia 20 with polydactyly	http://purl.obolibrary.org/obo/MONDO_1060154	INTU-related skeletal ciliopathy		A group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.
http://purl.obolibrary.org/obo/MONDO_0044329	osteogenesis imperfecta, type 18	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).
http://purl.obolibrary.org/obo/MONDO_0044330	hyperekplexia 4	http://purl.obolibrary.org/obo/MONDO_0021022	hereditary hyperekplexia		Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).
http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		A non-metastasizing neoplasm that arises from the soft tissue.
http://purl.obolibrary.org/obo/MONDO_0044336	colorectal signet ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005092	signet ring cell carcinoma		An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.
http://purl.obolibrary.org/obo/MONDO_0044337	stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	soft tissue sarcoma		A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.
http://purl.obolibrary.org/obo/MONDO_0044338	autoimmune primary ovarian failure	http://purl.obolibrary.org/obo/MONDO_0005387	primary ovarian failure		An autoimmune form of primary ovarian failure.
http://purl.obolibrary.org/obo/MONDO_0044342	thoracic disk degenerative disorder	http://purl.obolibrary.org/obo/MONDO_0011385	intervertebral disk degenerative disorder		Any degenerative disorder affecting one or more vertebral disks of the thoracic spine.
http://purl.obolibrary.org/obo/MONDO_0044343	cervical disk degenerative disorder	http://purl.obolibrary.org/obo/MONDO_0011385	intervertebral disk degenerative disorder		Any degenerative disorder affecting one or more vertebral disks of the cervical spine.
http://purl.obolibrary.org/obo/MONDO_0044346	echinococcus granulosus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005738	echinococcosis		An disease or disorder caused by infection with Echinococcus granulosus.
http://purl.obolibrary.org/obo/MONDO_0044347	erythrocyte disorder	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		A disease or disorder that involves the erythrocyte.
http://purl.obolibrary.org/obo/MONDO_0044349	acquired hemoglobinopathy	http://purl.obolibrary.org/obo/MONDO_0044348	hemoglobinopathy		An instance of hemoglobinopathy that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0044351	Schistosoma intercalatum infectious disease	http://purl.obolibrary.org/obo/MONDO_0015254	schistosomiasis		An disease or disorder caused by infection with Schistosoma intercalatum.
http://purl.obolibrary.org/obo/MONDO_0044355	isolated sternocostoclavicular hyperostosis	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.
http://purl.obolibrary.org/obo/MONDO_0044690	optic perineuritis	http://purl.obolibrary.org/obo/MONDO_0044685	autoimmune/inflammatory optic neuropathy		A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disk edema is observed in most cases. The condition is usually unilateral.
http://purl.obolibrary.org/obo/MONDO_0044705	paranasal sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.
http://purl.obolibrary.org/obo/MONDO_0044710	lip and oral cavity squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0044727	pancreatic carcinoma with mixed differentiation	http://purl.obolibrary.org/obo/MONDO_0006182	digestive system mixed adenoneuroendocrine carcinoma		A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.
http://purl.obolibrary.org/obo/MONDO_0044740	salivary gland squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0017167	malignant epithelial tumor of salivary glands		A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.
http://purl.obolibrary.org/obo/MONDO_0044743	major salivary gland cancer	http://purl.obolibrary.org/obo/MONDO_0004669	salivary gland cancer		A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0044749	X-linked congenital stationary night blindness	http://purl.obolibrary.org/obo/MONDO_0016293	congenital stationary night blindness		X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.
http://purl.obolibrary.org/obo/MONDO_0044751	chronic diarrheal disease	http://purl.obolibrary.org/obo/MONDO_0001673	diarrheal disease		Chronic form of diarrheal disease.
http://purl.obolibrary.org/obo/MONDO_0044753	lumbar spinal stenosis	http://purl.obolibrary.org/obo/MONDO_0005965	spinal stenosis		A spinal stenosis that involves the lumbar region of vertebral column.
http://purl.obolibrary.org/obo/MONDO_0044762	diarrheal disease secondary to increased bowel motility	http://purl.obolibrary.org/obo/MONDO_0000251	diarrheal disease secondary to altered bowel motility		A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.
http://purl.obolibrary.org/obo/MONDO_0044765	steroid-resistant nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0005377	nephrotic syndrome		Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.
http://purl.obolibrary.org/obo/MONDO_0044767	childhood adrenal gland pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		A rare pheochromocytoma of the adrenal gland that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0044768	vagus nerve paraganglioma	http://purl.obolibrary.org/obo/MONDO_0006239	head and neck paraganglioma		A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.
http://purl.obolibrary.org/obo/MONDO_0044781	nephrotic syndrome of childhood - steroid sensitive	http://purl.obolibrary.org/obo/MONDO_0044765	steroid-resistant nephrotic syndrome		Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.
http://purl.obolibrary.org/obo/MONDO_0044787	nasal cavity and paranasal sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010150	head and neck squamous cell carcinoma		A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.
http://purl.obolibrary.org/obo/MONDO_0044792	large congenital melanocytic nevus	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.
http://purl.obolibrary.org/obo/MONDO_0044794	benign melanocytic skin nevus	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.
http://purl.obolibrary.org/obo/MONDO_0044795	epithelioid cell nevus	http://purl.obolibrary.org/obo/MONDO_0044793	spitz nevus		A nevus characterized by the presence of large epithelioid melanocytes.
http://purl.obolibrary.org/obo/MONDO_0044797	desmoplastic nevus	http://purl.obolibrary.org/obo/MONDO_0044794	benign melanocytic skin nevus		A benign melanocytic nevus characterized by the presence of desmoplastic stroma.
http://purl.obolibrary.org/obo/MONDO_0044800	desmoplastic spitz nevus	http://purl.obolibrary.org/obo/MONDO_0044797	desmoplastic nevus		A Spitz nevus associated with fibrous stroma formation.
http://purl.obolibrary.org/obo/MONDO_0044870	acquired torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0044843	torsion dystonia		An instance of torsion dystonia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0044884	tonsillar lymphoma	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.
http://purl.obolibrary.org/obo/MONDO_0044885	tonsillar lipoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A benign adipose tissue neoplasm of the tonsils.
http://purl.obolibrary.org/obo/MONDO_0044887	central nervous system non-hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0015759	B-cell non-Hodgkin lymphoma		A non-Hodgkin lymphoma that arises from the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0044889	high grade B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.
http://purl.obolibrary.org/obo/MONDO_0044907	metastatic squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0024879	metastatic carcinoma		A squamous cell carcinoma which has spread from its original site of growth to another anatomic site.
http://purl.obolibrary.org/obo/MONDO_0044912	metastatic malignant neoplasm in the spinal cord	http://purl.obolibrary.org/obo/MONDO_0003544	spinal cord cancer		A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.
http://purl.obolibrary.org/obo/MONDO_0044913	metastatic malignant neoplasm in the eye	http://purl.obolibrary.org/obo/MONDO_0002236	ocular cancer		A malignant neoplasm that has spread to the eye from another anatomic site.
http://purl.obolibrary.org/obo/MONDO_0044915	salivary duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0006176	cribriform carcinoma		An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0044916	extrarenal rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0006517	childhood malignant neoplasm		A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0044923	acute myeloid leukemia with mutated NPM1	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.
http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma	http://purl.obolibrary.org/obo/MONDO_0023644	lip and oral cavity carcinoma		A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0044964	oral cavity mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.
http://purl.obolibrary.org/obo/MONDO_0044972	eosinophil disorder	http://purl.obolibrary.org/obo/MONDO_0004805	leukocyte disorder		A disease or disorder that involves the eosinophil.
http://purl.obolibrary.org/obo/MONDO_0044984	nasolacrimal duct disorder	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		A disease or disorder that involves the nasolacrimal duct.
http://purl.obolibrary.org/obo/MONDO_0044992	mouth mucosa disorder	http://purl.obolibrary.org/obo/MONDO_0006858	mouth disorder		A disease or disorder that involves the mouth mucosa.
http://purl.obolibrary.org/obo/MONDO_0044996	cerebral cortex disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disease or disorder that involves the cerebral cortex.
http://purl.obolibrary.org/obo/MONDO_0044997	midbrain disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		A disease or disorder that involves the midbrain.
http://purl.obolibrary.org/obo/MONDO_0045001	cardiac ventricle disorder	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A disease or disorder that involves the cardiac ventricle.
http://purl.obolibrary.org/obo/MONDO_0045002	vertebral disorder	http://purl.obolibrary.org/obo/MONDO_0000812	vertebral column disorder		A disease or disorder that involves the vertebra.
http://purl.obolibrary.org/obo/MONDO_0045008	cholesterol metabolism disease	http://purl.obolibrary.org/obo/MONDO_0019256	sterol metabolism disorder		A disease that has its basis in the disruption of cholesterol metabolic process.
http://purl.obolibrary.org/obo/MONDO_0045010	glycoprotein metabolism disease	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A disease that has its basis in the disruption of glycoprotein metabolic process.
http://purl.obolibrary.org/obo/MONDO_0045012	steroid metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A disease that has its basis in the disruption of steroid metabolic process.
http://purl.obolibrary.org/obo/MONDO_0045014	tetrahydrobiopterin metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0017306	disorder of phenylalanine metabolism		A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.
http://purl.obolibrary.org/obo/MONDO_0045015	carbohydrate transport disease	http://purl.obolibrary.org/obo/MONDO_0037792	carbohydrate metabolism disease		A disease that has its basis in the disruption of carbohydrate transport.
http://purl.obolibrary.org/obo/MONDO_0045016	cholesterol catabolic process disease	http://purl.obolibrary.org/obo/MONDO_0045008	cholesterol metabolism disease		A disease that has its basis in the disruption of cholesterol catabolic process.
http://purl.obolibrary.org/obo/MONDO_0045017	cholesterol biosynthetic process disease	http://purl.obolibrary.org/obo/MONDO_0045008	cholesterol metabolism disease		A disease that has its basis in the disruption of cholesterol biosynthetic process.
http://purl.obolibrary.org/obo/MONDO_0045018	creatine biosynthetic process disease	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		A disease that has its basis in the disruption of creatine biosynthetic process.
http://purl.obolibrary.org/obo/MONDO_0045020	glycine metabolism disease	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		A disease that has its basis in the disruption of glycine metabolic process.
http://purl.obolibrary.org/obo/MONDO_0045023	acquired adrenogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0015898	adrenogenital syndrome		An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0045037	hyalohyphomycosis	http://purl.obolibrary.org/obo/MONDO_0002312	opportunistic mycosis		An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.
http://purl.obolibrary.org/obo/MONDO_0045043	disorder of uterine broad ligament	http://purl.obolibrary.org/obo/MONDO_0045044	ligament disorder		A disease or disorder that involves the broad ligament of uterus.
http://purl.obolibrary.org/obo/MONDO_0045044	ligament disorder	http://purl.obolibrary.org/obo/MONDO_0002081	musculoskeletal system disorder		A disease or disorder that involves the ligament.
http://purl.obolibrary.org/obo/MONDO_0045046	inherited thyroid metabolism disease	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.
http://purl.obolibrary.org/obo/MONDO_0045047	neurosarcoidosis	http://purl.obolibrary.org/obo/MONDO_0019338	sarcoidosis		A sarcoidosis that involves the nervous system.
http://purl.obolibrary.org/obo/MONDO_0045054	cancer-related condition	http://purl.obolibrary.org/obo/MONDO_0045024	cancer or benign tumor		A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).
http://purl.obolibrary.org/obo/MONDO_0045056	grade II meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.
http://purl.obolibrary.org/obo/MONDO_0045057	delirium	http://purl.obolibrary.org/obo/MONDO_0002039	cognitive disorder		A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)
http://purl.obolibrary.org/obo/MONDO_0045058	ACTH-producing pituitary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0017611	pituitary tumor		An adenoma or carcinoma of the pituitary gland that produces corticotropin.
http://purl.obolibrary.org/obo/MONDO_0045060	intraductal cribriform breast adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0045059	cribriform carcinoma of breast		A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern.
http://purl.obolibrary.org/obo/MONDO_0045063	major salivary gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006284	major salivary gland carcinoma		An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.
http://purl.obolibrary.org/obo/MONDO_0045068	minor salivary gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006304	minor salivary gland adenocarcinoma		An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.
http://purl.obolibrary.org/obo/MONDO_0045069	minor salivary gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0021316	malignant tumor of minor salivary gland		A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0045070	digestive system melanoma	http://purl.obolibrary.org/obo/MONDO_0006320	non-cutaneous melanoma		A melanoma that arises from any part of the digestive system.
http://purl.obolibrary.org/obo/MONDO_0045072	ectopic hormone secretion syndrome associated with neoplasia	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.
http://purl.obolibrary.org/obo/MONDO_0054591	Stankiewicz-Isidor syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.
http://purl.obolibrary.org/obo/MONDO_0054743	polycystic liver disease 3 with or without kidney cysts	http://purl.obolibrary.org/obo/MONDO_0000447	autosomal dominant polycystic liver disease		Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.
http://purl.obolibrary.org/obo/MONDO_0054770	orofaciodigital syndrome 18	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.
http://purl.obolibrary.org/obo/MONDO_0054831	Coffin-Siris syndrome 7	http://purl.obolibrary.org/obo/MONDO_0015452	Coffin-Siris syndrome		Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.
http://purl.obolibrary.org/obo/MONDO_0054842	polycystic kidney disease 6 with or without polycystic liver disease	http://purl.obolibrary.org/obo/MONDO_0004691	autosomal dominant polycystic kidney disease		Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.
http://purl.obolibrary.org/obo/MONDO_0056795	X-linked spermatogenic failure 1	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		A cause of male infertility characterized by X-linked inheritance in which only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop) and there are not any sperm cells present in the seminiferous tubules.
http://purl.obolibrary.org/obo/MONDO_0056796	obstructive nephropathy	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Renal damage and impaired renal function secondary to urinary tract obstruction.
http://purl.obolibrary.org/obo/MONDO_0056798	disorder of appendix	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		A disease or disorder that involves the vermiform appendix.
http://purl.obolibrary.org/obo/MONDO_0100025	epilepsy of infancy with migrating focal seizures	http://purl.obolibrary.org/obo/MONDO_0800490	neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy		This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.
http://purl.obolibrary.org/obo/MONDO_0024645	retroperitoneal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant neoplasm that affects the retroperitoneum.
http://purl.obolibrary.org/obo/MONDO_0024744	childhood choroid plexus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0024746	immature teratoma	http://purl.obolibrary.org/obo/MONDO_0002601	teratoma		A teratoma composed of immature, fetal-type tissues.
http://purl.obolibrary.org/obo/MONDO_0036591	adrenal cortex neoplasm	http://purl.obolibrary.org/obo/MONDO_0021227	adrenal gland neoplasm		A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)
http://purl.obolibrary.org/obo/MONDO_0037250	childhood testicular neoplasm	http://purl.obolibrary.org/obo/MONDO_0021079	childhood neoplasm		A neoplasm that arises from the testis during childhood.
http://purl.obolibrary.org/obo/MONDO_0037736	infratentorial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm		A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.
http://purl.obolibrary.org/obo/MONDO_0037939	porphyria	http://purl.obolibrary.org/obo/MONDO_0037821	porphyrin metabolism disease		Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.
http://purl.obolibrary.org/obo/MONDO_0043905	pneumonitis	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.
http://purl.obolibrary.org/obo/MONDO_0044789	digital papillary eccrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0003531	papillary eccrine carcinoma		An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs.
http://purl.obolibrary.org/obo/MONDO_0044878	adult germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0005040	germ cell tumor		A germ cell tumor that occurs during adulthood.
http://purl.obolibrary.org/obo/MONDO_0044906	bladder urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0004041	urothelial papilloma		A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.
http://purl.obolibrary.org/obo/MONDO_0044991	upper digestive tract disorder	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		A disease or disorder that involves the upper digestive tract.
http://purl.obolibrary.org/obo/MONDO_0045055	glycogen-rich carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.
http://purl.obolibrary.org/obo/MONDO_0056815	liver adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0018534	squamous cell carcinoma of liver and intrahepatic biliary tract		A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.
http://purl.obolibrary.org/obo/MONDO_0056816	vulvar neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005215	vulvar carcinoma		A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.
http://purl.obolibrary.org/obo/MONDO_0044744	prekallikrein deficiency	http://purl.obolibrary.org/obo/MONDO_0001531	blood coagulation disease		A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.
http://purl.obolibrary.org/obo/MONDO_0024637	malignant soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0006424	soft tissue neoplasm		A malignant neoplasm arising exclusively from the soft tissues.
http://purl.obolibrary.org/obo/MONDO_0037821	porphyrin metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.
http://purl.obolibrary.org/obo/MONDO_0100086	perinatal disease	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.
http://purl.obolibrary.org/obo/MONDO_0020744	Mobitz type I atrioventricular block	http://purl.obolibrary.org/obo/MONDO_0000467	second-degree atrioventricular block		A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)
http://purl.obolibrary.org/obo/MONDO_0020806	sinoatrial block	http://purl.obolibrary.org/obo/MONDO_0000992	heart conduction disease		A heart block that is initiated in the sinoatrial node.
http://purl.obolibrary.org/obo/MONDO_0100096	COVID-19	http://purl.obolibrary.org/obo/MONDO_0020753	Orthocoronavirinae infectious disease		A disease caused by infection with severe acute respiratory syndrome coronavirus 2.
http://purl.obolibrary.org/obo/MONDO_0100100	SELENON-related myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.
http://purl.obolibrary.org/obo/ECTO_1000007	exposure to high temperature environment	http://purl.obolibrary.org/obo/ECTO_0600000	exposure to environmental system		A exposure event involving the interaction of an exposure receptor to high temperature environment.
http://purl.obolibrary.org/obo/ECTO_1000019	exposure to high pressure environment	http://purl.obolibrary.org/obo/ECTO_0600000	exposure to environmental system		A exposure event involving the interaction of an exposure receptor to high pressure environment.
http://purl.obolibrary.org/obo/ECTO_1000021	exposure to construction	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to construction.
http://purl.obolibrary.org/obo/ECTO_7000004	exposure to coal	http://purl.obolibrary.org/obo/ECTO_7000018	exposure to rock		A exposure event involving the interaction of an exposure receptor to coal.
http://purl.obolibrary.org/obo/ECTO_7000005	exposure to coal dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to coal dust.
http://purl.obolibrary.org/obo/ECTO_7000008	exposure to clay	http://purl.obolibrary.org/obo/ECTO_7000068	exposure to particulate matter		A exposure event involving the interaction of an exposure receptor to clay.
http://purl.obolibrary.org/obo/ECTO_7000009	exposure to clay dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to clay dust.
http://purl.obolibrary.org/obo/ECTO_7000012	exposure to soil	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to soil.
http://purl.obolibrary.org/obo/ECTO_7000018	exposure to rock	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to rock.
http://purl.obolibrary.org/obo/ECTO_7000020	exposure to sand	http://purl.obolibrary.org/obo/ECTO_7000068	exposure to particulate matter		A exposure event involving the interaction of an exposure receptor to sand.
http://purl.obolibrary.org/obo/ECTO_7000021	exposure to metallic dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to metallic dust.
http://purl.obolibrary.org/obo/ECTO_7000022	exposure to fibrous dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to fibrous dust.
http://purl.obolibrary.org/obo/ECTO_7000023	exposure to mineral dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to mineral dust.
http://purl.obolibrary.org/obo/ECTO_7000025	exposure to asbestos dust	http://purl.obolibrary.org/obo/ECTO_7000022	exposure to fibrous dust		A exposure event involving the interaction of an exposure receptor to asbestos dust.
http://purl.obolibrary.org/obo/ECTO_7000027	exposure to slate dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to slate dust.
http://purl.obolibrary.org/obo/ECTO_7000028	exposure to talc dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to talc dust.
http://purl.obolibrary.org/obo/ECTO_7000029	exposure to kaolin dust	http://purl.obolibrary.org/obo/ECTO_7000023	exposure to mineral dust		A exposure event involving the interaction of an exposure receptor to kaolin dust.
http://purl.obolibrary.org/obo/ECTO_7000030	exposure to silica dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to silica dust.
http://purl.obolibrary.org/obo/ECTO_7000031	exposure to barium dust	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to barium dust.
http://purl.obolibrary.org/obo/ECTO_7000033	exposure to dust from plant parts	http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust		A exposure event involving the interaction of an exposure receptor to dust from plant parts.
http://purl.obolibrary.org/obo/ECTO_7000045	exposure to stellar radiation	http://purl.obolibrary.org/obo/ECTO_0000002	exposure to electromagnetic radiation		A exposure event involving the interaction of an exposure receptor to stellar radiation.
http://purl.obolibrary.org/obo/ECTO_7000058	exposure to gaseous environmental material	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		A exposure event involving the interaction of an exposure receptor to gaseous environmental material.
http://purl.obolibrary.org/obo/ECTO_9000016	exposure to hydrogen chloride	http://purl.obolibrary.org/obo/ECTO_9000077	exposure to chlorine		An exposure to hydrogen chloride.
http://purl.obolibrary.org/obo/ECTO_9000017	exposure to sulfuric acid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to sulfuric acid.
http://purl.obolibrary.org/obo/ECTO_9000018	exposure to phosphoric acid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to phosphoric acid.
http://purl.obolibrary.org/obo/ECTO_9000019	exposure to acetic acid	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to acetic acid.
http://purl.obolibrary.org/obo/ECTO_9000021	exposure to alkali metal salt	http://purl.obolibrary.org/obo/ECTO_9000409	exposure to salt		An exposure to alkali metal salt.
http://purl.obolibrary.org/obo/ECTO_9000026	exposure to alcohol	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to alcohol.
http://purl.obolibrary.org/obo/ECTO_9000028	exposure to methanol	http://purl.obolibrary.org/obo/ECTO_9001621	exposure to volatile organic compound		An exposure to methanol.
http://purl.obolibrary.org/obo/ECTO_9000031	exposure to ammonia	http://purl.obolibrary.org/obo/ECTO_9001628	exposure to gas molecular entity		An exposure to ammonia.
http://purl.obolibrary.org/obo/ECTO_9000033	exposure to asbestos	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to asbestos.
http://purl.obolibrary.org/obo/ECTO_9000034	exposure to benzene	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to benzene.
http://purl.obolibrary.org/obo/ECTO_9000036	exposure to toluene	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to toluene.
http://purl.obolibrary.org/obo/ECTO_9000044	exposure to ketone	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to ketone.
http://purl.obolibrary.org/obo/ECTO_9000049	exposure to carbon dioxide	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to carbon dioxide.
http://purl.obolibrary.org/obo/ECTO_9000055	exposure to talc	http://purl.obolibrary.org/obo/ECTO_0000135	exposure to organic compound		An exposure to Talc.
http://purl.obolibrary.org/obo/ECTO_9000063	exposure to nickel	http://purl.obolibrary.org/obo/ECTO_0000481	exposure to transition element		An exposure to nickel molecular entity.
http://purl.obolibrary.org/obo/ECTO_9000073	exposure to silicon dioxide	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to silicon dioxide.
http://purl.obolibrary.org/obo/ECTO_9000077	exposure to chlorine	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to chlorine molecular entity.
http://purl.obolibrary.org/obo/ECTO_9000087	exposure to iron	http://purl.obolibrary.org/obo/ECTO_0000481	exposure to transition element		An exposure to iron molecular entity.
http://purl.obolibrary.org/obo/ECTO_9000091	exposure to fertilizer	http://purl.obolibrary.org/obo/ECTO_9001696	exposure to agrochemical		An exposure to fertilizer.
http://purl.obolibrary.org/obo/ECTO_9000106	exposure to polymer	http://purl.obolibrary.org/obo/ECTO_0000231	exposure to chemical		An exposure to polymer.
http://purl.obolibrary.org/obo/ECTO_9000107	exposure to solvent	http://purl.obolibrary.org/obo/ECTO_0000487	exposure to chemical with chemical role		An exposure to solvent.
http://purl.obolibrary.org/obo/ECTO_9000125	exposure to vitamin A	http://purl.obolibrary.org/obo/ECTO_0000015	exposure to environmental material		An exposure to vitamin A.
http://purl.obolibrary.org/obo/ECTO_9000133	exposure to vitamin D	http://purl.obolibrary.org/obo/ECTO_0002002	exposure to steroid		An exposure to vitamin D.
http://purl.obolibrary.org/obo/ECTO_9000147	exposure to thiamine	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to vitamin B1.
http://purl.obolibrary.org/obo/ECTO_9000149	exposure to riboflavin	http://purl.obolibrary.org/obo/ECTO_0000163	exposure to organic cyclic compound		An exposure to riboflavin.
http://purl.obolibrary.org/obo/HP_0032943	Abnormal urine pH	http://purl.obolibrary.org/obo/HP_0003110	Abnormality of urine homeostasis		A deviation of urine pH from the normal range of 4.5 to 7.8.
http://purl.obolibrary.org/obo/MONDO_0020757	sporadic hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0018925	familial or sporadic hemiplegic migraine		A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.
http://purl.obolibrary.org/obo/MONDO_0100135	Dravet syndrome	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.
http://purl.obolibrary.org/obo/MONDO_0100234	paroxysmal familial ventricular fibrillation	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.
http://purl.obolibrary.org/obo/CHEBI_176843	vitamin B12	http://purl.obolibrary.org/obo/CHEBI_75769	B vitamin		Any member of a group of cobalamin vitamers that exhibit biological activity against vitamin B<small><sub>12</sub></small> deficiency. Vitamin B<small><sub>12</sub></small> deficiency is associated with low red blood cell count and anemia. The vitamers are found in foods such as cereals, meat, fish, and poultry. The vitamers include adenosylcobalamin, hydroxocobalamin, cyanocobalamin, aquacobalamin, nitritocobalamin and methylcobabalamin (also includes their ionized, salt and phosphate derivatives).
http://purl.obolibrary.org/obo/MONDO_0100468	Batten-Turner congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy.
http://purl.obolibrary.org/obo/MONDO_0100470	reactive airway disease	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.
http://purl.obolibrary.org/obo/MONDO_0100471	vitamin D deficiency	http://purl.obolibrary.org/obo/MONDO_0024298	vitamin deficiency disorder		Abnormally low level of 25-hydroxyvitamin D in the blood.
http://purl.obolibrary.org/obo/MONDO_0100474	mild ichthyosis vulgaris	http://purl.obolibrary.org/obo/MONDO_0007810	autosomal dominant ichthyosis vulgaris		An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.
http://purl.obolibrary.org/obo/MONDO_0100475	severe ichthyosis vulgaris	http://purl.obolibrary.org/obo/MONDO_0007810	autosomal dominant ichthyosis vulgaris		An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.
http://purl.obolibrary.org/obo/MONDO_0100476	lipodystrophy, partial, acquired, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing acquired partial lipodystrophy.
http://purl.obolibrary.org/obo/MONDO_0100479	rifampicin-resistant tuberculosis	http://purl.obolibrary.org/obo/MONDO_0041806	drug-resistant tuberculosis		A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.
http://purl.obolibrary.org/obo/MONDO_0100480	autoimmune primary adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0015129	chronic primary adrenal insufficiency		Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.
http://purl.obolibrary.org/obo/MONDO_0100481	active tuberculosis	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.
http://purl.obolibrary.org/obo/MONDO_0100482	extensively drug-resistant tuberculosis	http://purl.obolibrary.org/obo/MONDO_0041806	drug-resistant tuberculosis		A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.
http://purl.obolibrary.org/obo/MONDO_0100483	totally drug-resistant tuberculosis	http://purl.obolibrary.org/obo/MONDO_0041806	drug-resistant tuberculosis		A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).
http://purl.obolibrary.org/obo/MONDO_0700030	complete trisomy 21	http://purl.obolibrary.org/obo/MONDO_0700126	trisomy 21		Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700031	mosaic trisomy 18	http://purl.obolibrary.org/obo/MONDO_0018071	trisomy 18		Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700032	complete trisomy 18	http://purl.obolibrary.org/obo/MONDO_0018071	trisomy 18		Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700033	complete trisomy 13	http://purl.obolibrary.org/obo/MONDO_0018068	trisomy 13		Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700034	mosaic trisomy 13	http://purl.obolibrary.org/obo/MONDO_0018068	trisomy 13		Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700035	monosomy chromosome 8	http://purl.obolibrary.org/obo/MONDO_0700015	chromosome 8 disorder		A chromosomal disorder consisting of the absence of one chromosome 8.
http://purl.obolibrary.org/obo/MONDO_0700037	testicular fibrothecoma	http://purl.obolibrary.org/obo/MONDO_0700036	fibrothecoma		A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.
http://purl.obolibrary.org/obo/MONDO_0700118	proximal chromosome 18q deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0011147	chromosome 18q deletion syndrome		Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.
http://purl.obolibrary.org/obo/MONDO_0700119	distal chromosome 18q deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0011147	chromosome 18q deletion syndrome		Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.
http://purl.obolibrary.org/obo/MONDO_0700121	ACTL6A-related BAFopathy	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.
http://purl.obolibrary.org/obo/MONDO_0700122	PBRM1-related BAFopathy	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.
http://purl.obolibrary.org/obo/MONDO_0700123	SMARCC1-associated developmental dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.
http://purl.obolibrary.org/obo/MONDO_0700126	trisomy 21	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		A chromosomal disorder consisting of the presence of an extra chromosome 21.
http://purl.obolibrary.org/obo/MONDO_0700127	mosaic trisomy 21	http://purl.obolibrary.org/obo/MONDO_0700126	trisomy 21		Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700128	translocation Down syndrome	http://purl.obolibrary.org/obo/MONDO_0008608	Down syndrome		Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.
http://purl.obolibrary.org/obo/MONDO_0700129	mosaic translocation Down syndrome	http://purl.obolibrary.org/obo/MONDO_0700128	translocation Down syndrome		Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.
http://purl.obolibrary.org/obo/MONDO_0700130	partial segmental duplication	http://purl.obolibrary.org/obo/MONDO_0008608	Down syndrome		A chromosomal disorder consisting of the partial duplication of chromosome 21.
http://purl.obolibrary.org/obo/MONDO_0100486	adult acne	http://purl.obolibrary.org/obo/MONDO_0011438	acne		Acne that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0700038	TDP-43 proteinopathy	http://purl.obolibrary.org/obo/MONDO_0021179	proteostasis deficiencies		Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.
http://purl.obolibrary.org/obo/MONDO_0700039	bladder exstrophy-epispadias-cloacal exstrophy complex	http://purl.obolibrary.org/obo/MONDO_0017919	exstrophy-epispadias complex		An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.
http://purl.obolibrary.org/obo/MONDO_0700040	neonatal jaundice due to ABO incompatibility	http://purl.obolibrary.org/obo/MONDO_0024288	hyperbilirubinemia		Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.
http://purl.obolibrary.org/obo/HP_0034207	Abnormal fetal gastrointestinal system morphology	http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology		An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		An instance of skin disease that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770016	disease of primarily extrinsic mechanism, non-human animal		Infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Viral infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700059	Actinobacillus infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Actinobacillus infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700072	Rhabdoviridae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Rhabdoviridae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700203	pestivirus infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Pestivirus infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700204	trichostrongyloidiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025082	helminthiasis, animal		Trichostrongyloidiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/HP_0034809	Abnormal sperm physiology	http://purl.obolibrary.org/obo/HP_0000025	Functional abnormality of male internal genitalia		Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.
http://purl.obolibrary.org/obo/HP_0034915	Abnormal anus morphology	http://purl.obolibrary.org/obo/HP_0025033	Abnormal digestive system morphology		A structural anomaly of the anus.
http://purl.obolibrary.org/obo/HP_0034930	Digestive system neoplasm	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		A tumor (abnormal growth of tissue) of the digestive system.
http://purl.obolibrary.org/obo/MONDO_0700240	BEST1-related vitreoretinochoroidopathy	http://purl.obolibrary.org/obo/MONDO_0020248	vitreoretinal degeneration		Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.
http://purl.obolibrary.org/obo/MONDO_0800463	KIF7-related ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.
http://purl.obolibrary.org/obo/MONDO_0800472	CYP1B1-related glaucoma with or without anterior segment dysgenesis	http://purl.obolibrary.org/obo/MONDO_0000365	primary congenital glaucoma		Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.
http://purl.obolibrary.org/obo/MONDO_0800484	PRKAG2-related cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005217	familial cardiomyopathy		A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.
http://purl.obolibrary.org/obo/MONDO_0800456	SYNCRIP-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.
http://purl.obolibrary.org/obo/MONDO_0800457	HNRNPC-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.
http://purl.obolibrary.org/obo/MONDO_0800458	NR2F2 related multiple congenital anomalies/dysmorphic syndrome	http://purl.obolibrary.org/obo/MONDO_0019042	multiple congenital anomalies/dysmorphic syndrome		A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.
http://purl.obolibrary.org/obo/MONDO_0800474	SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0800475	NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.
http://purl.obolibrary.org/obo/MONDO_0800476	HAND2 related congenital heart defect	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.
http://purl.obolibrary.org/obo/MONDO_0800478	trigeminal trophic syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome.
http://purl.obolibrary.org/obo/MONDO_0800479	self-limited neonatal seizures	http://purl.obolibrary.org/obo/MONDO_0800488	neonatal/infantile-onset self-limited epilepsy syndrome		A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.
http://purl.obolibrary.org/obo/MONDO_0800480	non-verbal learning disability	http://purl.obolibrary.org/obo/MONDO_0016225	specific learning disability		A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher).
http://purl.obolibrary.org/obo/MONDO_0800481	oral fibroma	http://purl.obolibrary.org/obo/MONDO_0005167	fibroma		A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts.
http://purl.obolibrary.org/obo/MONDO_0800482	head injury	http://purl.obolibrary.org/obo/MONDO_0021178	injury		An injury that involves the head.
http://purl.obolibrary.org/obo/MONDO_1010407	epilepsy, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Epilepsy that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1010408	epilepsy, Mongolian gerbil	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Epilepsy that occurs in Mongolian gerbil.
http://purl.obolibrary.org/obo/MONDO_1010409	epilepsy, LOC430486-related, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Epilepsy that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010410	epilepsy, white-tufted-ear marmoset	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Epilepsy that occurs in white-tufted-ear marmoset.
http://purl.obolibrary.org/obo/MONDO_1010411	epilepsy, dog	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Epilepsy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010412	epilepsy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Epilepsy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010413	epilepsy, horse	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Epilepsy that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010414	epilepsy, cattle	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Epilepsy that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010415	epilepsy, rabbit	http://purl.obolibrary.org/obo/MONDO_1010001	epilepsy, non-human animal		Epilepsy that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010416	myoclonus, horse	http://purl.obolibrary.org/obo/MONDO_1010002	myoclonus, non-human animal		Myoclonus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010417	myoclonus, GLRA1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010002	myoclonus, non-human animal		Myoclonus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010418	narcolepsy, HCRTR2-related, dog	http://purl.obolibrary.org/obo/MONDO_1010003	narcolepsy, non-human animal		Narcolepsy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010419	narcolepsy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010003	narcolepsy, non-human animal		Narcolepsy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010420	narcolepsy, horse	http://purl.obolibrary.org/obo/MONDO_1010003	narcolepsy, non-human animal		Narcolepsy that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010421	narcolepsy, sheep	http://purl.obolibrary.org/obo/MONDO_1010003	narcolepsy, non-human animal		Narcolepsy that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010422	paroxysmal dyskinesia, dog	http://purl.obolibrary.org/obo/MONDO_1010004	paroxysmal dyskinesia, non-human animal		Paroxysmal dyskinesia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010423	paroxysmal dyskinesia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010004	paroxysmal dyskinesia, non-human animal		Paroxysmal dyskinesia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010424	autism spectrum disorder, zebra finch	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Autism spectrum disorder that occurs in zebra finch.
http://purl.obolibrary.org/obo/MONDO_1010425	Phelan-McDermid syndrome, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1010006	Phelan-McDermid syndrome, non-human animal		Phelan-McDermid syndrome that occurs in crab-eating macaque.
http://purl.obolibrary.org/obo/MONDO_1010426	subvalvular aortic stenosis, dog	http://purl.obolibrary.org/obo/MONDO_1010007	subvalvular aortic stenosis, non-human animal		Subvalvular aortic stenosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010427	atherosclerosis, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010008	atherosclerosis, non-human animal		Atherosclerosis that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1010428	atherosclerosis, rock pigeon	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Atherosclerosis that occurs in rock pigeon.
http://purl.obolibrary.org/obo/MONDO_1010429	atherosclerosis, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Atherosclerosis that occurs in Japanese quail.
http://purl.obolibrary.org/obo/MONDO_1010430	atherosclerosis, dog	http://purl.obolibrary.org/obo/MONDO_1010008	atherosclerosis, non-human animal		Atherosclerosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010431	atherosclerosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010008	atherosclerosis, non-human animal		Atherosclerosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010432	atherosclerosis, pig	http://purl.obolibrary.org/obo/MONDO_1010008	atherosclerosis, non-human animal		Atherosclerosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010433	atrial septal defect, koala	http://purl.obolibrary.org/obo/MONDO_1010009	atrial septal defect, non-human animal		Atrial septal defect that occurs in koala.
http://purl.obolibrary.org/obo/MONDO_1010434	atrial septal defect, dog	http://purl.obolibrary.org/obo/MONDO_1010009	atrial septal defect, non-human animal		Atrial septal defect that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010435	atrial septal defect, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010009	atrial septal defect, non-human animal		Atrial septal defect that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010436	atrial septal defect, cattle	http://purl.obolibrary.org/obo/MONDO_1010009	atrial septal defect, non-human animal		Atrial septal defect that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010437	cardiomyopathy, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Cardiomyopathy that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1010438	cardiomyopathy, salmonids	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Cardiomyopathy that occurs in salmonids.
http://purl.obolibrary.org/obo/MONDO_1010439	cardiomyopathy, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Cardiomyopathy that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010440	cardiomyopathy, hedgehogs	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Cardiomyopathy that occurs in hedgehogs.
http://purl.obolibrary.org/obo/MONDO_1010441	cardiomyopathy, dog	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Cardiomyopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010442	cardiomyopathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Cardiomyopathy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010443	cardiomyopathy, cattle	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Cardiomyopathy that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010444	cardiomyopathy, goat	http://purl.obolibrary.org/obo/MONDO_1010010	cardiomyopathy, non-human animal		Cardiomyopathy that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1010445	dilated cardiomyopathy, SGCD-related, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010437	cardiomyopathy, golden hamster		Dilated cardiomyopathy that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1010446	dilated cardiomyopathy, sea otter	http://purl.obolibrary.org/obo/MONDO_1010011	dilated cardiomyopathy, non-human animal		Dilated cardiomyopathy that occurs in sea otter.
http://purl.obolibrary.org/obo/MONDO_1010447	dilated cardiomyopathy, TNNT2-related, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Dilated cardiomyopathy that occurs in turkey.
http://purl.obolibrary.org/obo/MONDO_1010448	dilated cardiomyopathy, dog	http://purl.obolibrary.org/obo/MONDO_1010441	cardiomyopathy, dog		Dilated cardiomyopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010449	dilated cardiomyopathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010442	cardiomyopathy, domestic cat		Dilated cardiomyopathy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010450	dilated cardiomyopathy, pig	http://purl.obolibrary.org/obo/MONDO_1010011	dilated cardiomyopathy, non-human animal		Dilated cardiomyopathy that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010451	dilated cardiomyopathy, OPA3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010443	cardiomyopathy, cattle		Dilated cardiomyopathy that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010452	dilated cardiomyopathy, rabbit	http://purl.obolibrary.org/obo/MONDO_1010011	dilated cardiomyopathy, non-human animal		Dilated cardiomyopathy that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010453	conotruncal heart malformations, dog	http://purl.obolibrary.org/obo/MONDO_1010012	conotruncal heart malformations, non-human animal		Conotruncal heart malformations that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010454	cor triatriatum dexter, dog	http://purl.obolibrary.org/obo/MONDO_1010013	cor triatriatum dexter, non-human animal		Cor triatriatum dexter that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010455	essential hypertension, dog	http://purl.obolibrary.org/obo/MONDO_1010014	essential hypertension, non-human animal		Essential hypertension that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010456	hypertrophic cardiomyopathy, woolly monkeys	http://purl.obolibrary.org/obo/MONDO_1010015	hypertrophic cardiomyopathy, non-human animal		Hypertrophic cardiomyopathy that occurs in woolly monkeys.
http://purl.obolibrary.org/obo/MONDO_1010457	hypertrophic cardiomyopathy, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1010015	hypertrophic cardiomyopathy, non-human animal		Hypertrophic cardiomyopathy that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1010458	hypertrophic cardiomyopathy, dog	http://purl.obolibrary.org/obo/MONDO_1010441	cardiomyopathy, dog		Hypertrophic cardiomyopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010459	hypertrophic cardiomyopathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010442	cardiomyopathy, domestic cat		Hypertrophic cardiomyopathy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010460	hypertrophic cardiomyopathy, pig	http://purl.obolibrary.org/obo/MONDO_1010015	hypertrophic cardiomyopathy, non-human animal		Hypertrophic cardiomyopathy that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010461	hypertrophic cardiomyopathy, Arabian camel	http://purl.obolibrary.org/obo/MONDO_1010015	hypertrophic cardiomyopathy, non-human animal		Hypertrophic cardiomyopathy that occurs in Arabian camel.
http://purl.obolibrary.org/obo/MONDO_1010462	hypertrophic cardiomyopathy, cattle	http://purl.obolibrary.org/obo/MONDO_1010443	cardiomyopathy, cattle		Hypertrophic cardiomyopathy that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010463	mitral valve stenosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010016	mitral valve stenosis, non-human animal		Mitral valve stenosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010464	patent ductus arteriosus, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Patent ductus arteriosus that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010465	patent ductus arteriosus, dog	http://purl.obolibrary.org/obo/MONDO_1010017	patent ductus arteriosus, non-human animal		Patent ductus arteriosus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010466	patent ductus arteriosus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010017	patent ductus arteriosus, non-human animal		Patent ductus arteriosus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010467	patent ductus arteriosus, horse	http://purl.obolibrary.org/obo/MONDO_1010017	patent ductus arteriosus, non-human animal		Patent ductus arteriosus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010468	patent ductus arteriosus, cattle	http://purl.obolibrary.org/obo/MONDO_1010017	patent ductus arteriosus, non-human animal		Patent ductus arteriosus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010469	patent ductus arteriosus, sheep	http://purl.obolibrary.org/obo/MONDO_1010017	patent ductus arteriosus, non-human animal		Patent ductus arteriosus that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010470	persistent truncus arteriosus, alpaca	http://purl.obolibrary.org/obo/MONDO_1010018	persistent truncus arteriosus, non-human animal		Persistent truncus arteriosus that occurs in alpaca.
http://purl.obolibrary.org/obo/MONDO_1010471	persistent truncus arteriosus, dog	http://purl.obolibrary.org/obo/MONDO_1010453	conotruncal heart malformations, dog		Persistent truncus arteriosus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010472	persistent truncus arteriosus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010018	persistent truncus arteriosus, non-human animal		Persistent truncus arteriosus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010473	persistent truncus arteriosus, horse	http://purl.obolibrary.org/obo/MONDO_1010018	persistent truncus arteriosus, non-human animal		Persistent truncus arteriosus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010474	persistent truncus arteriosus, pig	http://purl.obolibrary.org/obo/MONDO_1010018	persistent truncus arteriosus, non-human animal		Persistent truncus arteriosus that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010475	persistent truncus arteriosus, cattle	http://purl.obolibrary.org/obo/MONDO_1010018	persistent truncus arteriosus, non-human animal		Persistent truncus arteriosus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010476	persistent truncus arteriosus, sheep	http://purl.obolibrary.org/obo/MONDO_1010018	persistent truncus arteriosus, non-human animal		Persistent truncus arteriosus that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010477	arrhythmogenic right ventricular cardiomyopathy, chimpanzee	http://purl.obolibrary.org/obo/MONDO_1010019	arrhythmogenic right ventricular cardiomyopathy, non-human animal		Arrhythmogenic right ventricular cardiomyopathy that occurs in chimpanzee.
http://purl.obolibrary.org/obo/MONDO_1010478	arrhythmogenic right ventricular cardiomyopathy, dog	http://purl.obolibrary.org/obo/MONDO_1010441	cardiomyopathy, dog		Arrhythmogenic right ventricular cardiomyopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010479	arrhythmogenic right ventricular cardiomyopathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010442	cardiomyopathy, domestic cat		Arrhythmogenic right ventricular cardiomyopathy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010480	supravalvular aortic stenosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010020	supravalvular aortic stenosis, non-human animal		Supravalvular aortic stenosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010481	tetralogy of fallot, snow leopard	http://purl.obolibrary.org/obo/MONDO_1010021	tetralogy of fallot, non-human animal		Tetralogy of fallot that occurs in snow leopard.
http://purl.obolibrary.org/obo/MONDO_1010482	tetralogy of fallot, dog	http://purl.obolibrary.org/obo/MONDO_1010453	conotruncal heart malformations, dog		Tetralogy of fallot that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010483	tetralogy of fallot, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010021	tetralogy of fallot, non-human animal		Tetralogy of fallot that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010484	tetralogy of fallot, horse	http://purl.obolibrary.org/obo/MONDO_1010021	tetralogy of fallot, non-human animal		Tetralogy of fallot that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010485	tetralogy of fallot, cattle	http://purl.obolibrary.org/obo/MONDO_1010021	tetralogy of fallot, non-human animal		Tetralogy of fallot that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010486	ventricular septal defect, alpaca	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Ventricular septal defect that occurs in alpaca.
http://purl.obolibrary.org/obo/MONDO_1010487	ventricular septal defect, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Ventricular septal defect that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010488	ventricular septal defect, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Ventricular septal defect that occurs in turkey.
http://purl.obolibrary.org/obo/MONDO_1010489	ventricular septal defect, dog	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Ventricular septal defect that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010490	ventricular septal defect, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Ventricular septal defect that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010491	ventricular septal defect, horse	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Ventricular septal defect that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010492	ventricular septal defect, pig	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Ventricular septal defect that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010493	ventricular septal defect, cattle	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Ventricular septal defect that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010494	ventricular septal defect, sheep	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Ventricular septal defect that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010495	ventricular septal defect, rabbit	http://purl.obolibrary.org/obo/MONDO_1010022	ventricular septal defect, non-human animal		Ventricular septal defect that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010496	patent ductus venosus, gray wolf	http://purl.obolibrary.org/obo/MONDO_1010023	patent ductus venosus, non-human animal		Patent ductus venosus that occurs in gray wolf.
http://purl.obolibrary.org/obo/MONDO_1010497	patent ductus venosus, dog	http://purl.obolibrary.org/obo/MONDO_1010496	patent ductus venosus, gray wolf		Patent ductus venosus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010498	atrial fibrillation, dog	http://purl.obolibrary.org/obo/MONDO_1010024	atrial fibrillation, non-human animal		Atrial fibrillation that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010499	atrial fibrillation, horse	http://purl.obolibrary.org/obo/MONDO_1010024	atrial fibrillation, non-human animal		Atrial fibrillation that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010500	Wolff-Parkinson-White syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1010443	cardiomyopathy, cattle		Wolff-Parkinson-White syndrome that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010501	Budd-chiari syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1010026	Budd-Chiari syndrome, non-human animal		Budd-Chiari syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010502	Budd-chiari syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010026	Budd-Chiari syndrome, non-human animal		Budd-Chiari syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010503	endocardial fibroelastosis, dog	http://purl.obolibrary.org/obo/MONDO_1010027	endocardial fibroelastosis, non-human animal		Endocardial fibroelastosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010504	endocardial fibroelastosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010027	endocardial fibroelastosis, non-human animal		Endocardial fibroelastosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010505	endocardial fibroelastosis, tiger	http://purl.obolibrary.org/obo/MONDO_1010027	endocardial fibroelastosis, non-human animal		Endocardial fibroelastosis that occurs in tiger.
http://purl.obolibrary.org/obo/MONDO_1010506	endocardial fibroelastosis, horse	http://purl.obolibrary.org/obo/MONDO_1010027	endocardial fibroelastosis, non-human animal		Endocardial fibroelastosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010507	endocardial fibroelastosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010027	endocardial fibroelastosis, non-human animal		Endocardial fibroelastosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010508	cerebral amyloid angiopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011467	amyloidosis, dog		Cerebral amyloid angiopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010509	cerebral amyloid angiopathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011468	amyloidosis, domestic cat		Cerebral amyloid angiopathy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010513	triploidy, tench	http://purl.obolibrary.org/obo/MONDO_1010031	triploidy, non-human animal		Triploidy that occurs in tench.
http://purl.obolibrary.org/obo/MONDO_1010514	triploidy, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Triploidy that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010515	triploidy, blue-and-yellow macaw	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Triploidy that occurs in blue-and-yellow macaw.
http://purl.obolibrary.org/obo/MONDO_1010516	Jacobsen syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1010662	thrombocytopenia, cattle		Jacobsen syndrome that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010517	holoprosencephaly, horse	http://purl.obolibrary.org/obo/MONDO_1010033	holoprosencephaly, non-human animal		Holoprosencephaly that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010518	holoprosencephaly, pig	http://purl.obolibrary.org/obo/MONDO_1010033	holoprosencephaly, non-human animal		Holoprosencephaly that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010519	holoprosencephaly, sheep	http://purl.obolibrary.org/obo/MONDO_1010033	holoprosencephaly, non-human animal		Holoprosencephaly that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010520	cleft lip with or without cleft palate, ADAMTS20-related, dog	http://purl.obolibrary.org/obo/MONDO_1010034	cleft lip with or without cleft palate, non-human animal		Cleft lip with or without cleft palate that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010521	mandibulofacial dysostosis, CYP26C1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010035	mandibulofacial dysostosis, non-human animal		Mandibulofacial dysostosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010522	frontonasal dysplasia, ZIC2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010036	frontonasal dysplasia, non-human animal		Frontonasal dysplasia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010523	cleft palate, spectacled flying fox	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in spectacled flying fox.
http://purl.obolibrary.org/obo/MONDO_1010524	cleft palate, American mink	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in American mink.
http://purl.obolibrary.org/obo/MONDO_1010525	cleft palate, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Cleft palate that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010526	cleft palate, dog	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010527	cleft palate, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010528	cleft palate, horse	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010529	cleft palate, pig	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010530	cleft palate, cattle	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010531	cleft palate, sheep	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010532	cleft palate, rabbit	http://purl.obolibrary.org/obo/MONDO_1010037	cleft palate, non-human animal		Cleft palate that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010533	gingival hypertrophy, dog	http://purl.obolibrary.org/obo/MONDO_1010038	gingival hypertrophy, non-human animal		Gingival hypertrophy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010534	gingival hypertrophy, red fox	http://purl.obolibrary.org/obo/MONDO_1010038	gingival hypertrophy, non-human animal		Gingival hypertrophy that occurs in red fox.
http://purl.obolibrary.org/obo/MONDO_1010535	megacolon, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010039	megacolon, non-human animal		Megacolon that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010536	megacolon, EDNRB-related, horse	http://purl.obolibrary.org/obo/MONDO_1010039	megacolon, non-human animal		Megacolon that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010537	megacolon, pig	http://purl.obolibrary.org/obo/MONDO_1010039	megacolon, non-human animal		Megacolon that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010538	megacolon, cattle	http://purl.obolibrary.org/obo/MONDO_1010039	megacolon, non-human animal		Megacolon that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010539	megacolon, rabbit	http://purl.obolibrary.org/obo/MONDO_1010039	megacolon, non-human animal		Megacolon that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010540	pyloric stenosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010040	pyloric stenosis, non-human animal		Pyloric stenosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010541	Meckel diverticulum, horse	http://purl.obolibrary.org/obo/MONDO_1010041	Meckel diverticulum, non-human animal		Meckel diverticulum that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010542	protein-losing enteropathy, dog	http://purl.obolibrary.org/obo/MONDO_1010042	protein-losing enteropathy, non-human animal		Protein-losing enteropathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010543	cystic fibrosis, domestic ferret	http://purl.obolibrary.org/obo/MONDO_1010043	cystic fibrosis, non-human animal		Cystic fibrosis that occurs in domestic ferret.
http://purl.obolibrary.org/obo/MONDO_1010544	cystic fibrosis, pig	http://purl.obolibrary.org/obo/MONDO_1010043	cystic fibrosis, non-human animal		Cystic fibrosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010545	cystic fibrosis, CFTR-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010043	cystic fibrosis, non-human animal		Cystic fibrosis that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010546	microvillus inclusion disease, pig	http://purl.obolibrary.org/obo/MONDO_1010044	microvillus inclusion disease, non-human animal		Microvillus inclusion disease that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010547	diprosopus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010045	diprosopus, non-human animal		Diprosopus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010548	diprosopus, cattle	http://purl.obolibrary.org/obo/MONDO_1010045	diprosopus, non-human animal		Diprosopus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010549	diprosopus, sheep	http://purl.obolibrary.org/obo/MONDO_1010045	diprosopus, non-human animal		Diprosopus that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010550	patent urachus, dog	http://purl.obolibrary.org/obo/MONDO_1010046	patent urachus, non-human animal		Patent urachus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010551	patent urachus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010046	patent urachus, non-human animal		Patent urachus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010552	patent urachus, mountain zebra	http://purl.obolibrary.org/obo/MONDO_1010046	patent urachus, non-human animal		Patent urachus that occurs in mountain zebra.
http://purl.obolibrary.org/obo/MONDO_1010553	patent urachus, white rhinoceros	http://purl.obolibrary.org/obo/MONDO_1010046	patent urachus, non-human animal		Patent urachus that occurs in white rhinoceros.
http://purl.obolibrary.org/obo/MONDO_1010554	patent urachus, sheep	http://purl.obolibrary.org/obo/MONDO_1010046	patent urachus, non-human animal		Patent urachus that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010555	spina bifida, snow leopard	http://purl.obolibrary.org/obo/MONDO_1010047	spina bifida, non-human animal		Spina bifida that occurs in snow leopard.
http://purl.obolibrary.org/obo/MONDO_1010556	spina bifida, dog	http://purl.obolibrary.org/obo/MONDO_1010047	spina bifida, non-human animal		Spina bifida that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010557	spina bifida, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010047	spina bifida, non-human animal		Spina bifida that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010558	spina bifida, cattle	http://purl.obolibrary.org/obo/MONDO_1010047	spina bifida, non-human animal		Spina bifida that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010559	spina bifida, sheep	http://purl.obolibrary.org/obo/MONDO_1010047	spina bifida, non-human animal		Spina bifida that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010560	spina bifida, rabbit	http://purl.obolibrary.org/obo/MONDO_1010047	spina bifida, non-human animal		Spina bifida that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010561	spina bifida occulta, dog	http://purl.obolibrary.org/obo/MONDO_1010556	spina bifida, dog		Spina bifida occulta that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010562	acromegaly, dog	http://purl.obolibrary.org/obo/MONDO_1010049	acromegaly, non-human animal		Acromegaly that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010563	acromegaly, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010049	acromegaly, non-human animal		Acromegaly that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010564	congenital adrenal hyperplasia, CYP11A1-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1010050	congenital adrenal hyperplasia, non-human animal		Congenital adrenal hyperplasia that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010565	diabetes insipidus, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Diabetes insipidus that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010566	diabetes insipidus, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Diabetes insipidus that occurs in Japanese quail.
http://purl.obolibrary.org/obo/MONDO_1010567	diabetes insipidus, dog	http://purl.obolibrary.org/obo/MONDO_1010051	diabetes insipidus, non-human animal		Diabetes insipidus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010568	diabetes insipidus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010051	diabetes insipidus, non-human animal		Diabetes insipidus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010569	diabetes insipidus, horse	http://purl.obolibrary.org/obo/MONDO_1010051	diabetes insipidus, non-human animal		Diabetes insipidus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010570	diabetes insipidus, pig	http://purl.obolibrary.org/obo/MONDO_1010051	diabetes insipidus, non-human animal		Diabetes insipidus that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010571	diabetes mellitus, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1010572	diabetes mellitus, long-tailed chinchilla	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in long-tailed chinchilla.
http://purl.obolibrary.org/obo/MONDO_1010573	diabetes mellitus, koala	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in koala.
http://purl.obolibrary.org/obo/MONDO_1010574	diabetes mellitus, dog	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010575	diabetes mellitus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010576	diabetes mellitus, horse	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010577	diabetes mellitus, pig	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010578	diabetes mellitus, cattle	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010579	diabetes mellitus, rabbit	http://purl.obolibrary.org/obo/MONDO_1010052	diabetes mellitus, non-human animal		Diabetes mellitus that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010580	familial goiter, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010053	familial goiter, non-human animal		Familial goiter that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1010581	familial goiter, bongo	http://purl.obolibrary.org/obo/MONDO_1010053	familial goiter, non-human animal		Familial goiter that occurs in bongo.
http://purl.obolibrary.org/obo/MONDO_1010582	familial goiter, water buffalo	http://purl.obolibrary.org/obo/MONDO_1010053	familial goiter, non-human animal		Familial goiter that occurs in water buffalo.
http://purl.obolibrary.org/obo/MONDO_1010583	familial goiter, chicken	http://purl.obolibrary.org/obo/MONDO_1010601	congenital hypothyroidism, chicken		Familial goiter that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010584	familial goiter, dog	http://purl.obolibrary.org/obo/MONDO_1010602	congenital hypothyroidism, TPO-related, dog		Familial goiter that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010585	familial goiter, American black bear	http://purl.obolibrary.org/obo/MONDO_1010053	familial goiter, non-human animal		Familial goiter that occurs in American black bear.
http://purl.obolibrary.org/obo/MONDO_1010586	familial goiter, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010603	congenital hypothyroidism, TPO-related, domestic cat		Familial goiter that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010587	familial goiter, pig	http://purl.obolibrary.org/obo/MONDO_1010053	familial goiter, non-human animal		Familial goiter that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010588	familial goiter, TG-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010053	familial goiter, non-human animal		Familial goiter that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010589	familial goiter, TG-related, goat	http://purl.obolibrary.org/obo/MONDO_1010605	congenital hypothyroidism, goat		Familial goiter that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1010590	familial goiter, sheep	http://purl.obolibrary.org/obo/MONDO_1010606	congenital hypothyroidism, sheep		Familial goiter that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010591	hyperparathyroidism, dog	http://purl.obolibrary.org/obo/MONDO_1010054	hyperparathyroidism, non-human animal		Hyperparathyroidism that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010592	hyperparathyroidism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010054	hyperparathyroidism, non-human animal		Hyperparathyroidism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010593	hyperparathyroidism, horse	http://purl.obolibrary.org/obo/MONDO_1010054	hyperparathyroidism, non-human animal		Hyperparathyroidism that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010594	hyperthyroidism, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1010055	hyperthyroidism, non-human animal		Hyperthyroidism that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1010595	hyperthyroidism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010055	hyperthyroidism, non-human animal		Hyperthyroidism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010596	hyperthyroidism, horse	http://purl.obolibrary.org/obo/MONDO_1010055	hyperthyroidism, non-human animal		Hyperthyroidism that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010597	hyperthyroidism, rabbit	http://purl.obolibrary.org/obo/MONDO_1010055	hyperthyroidism, non-human animal		Hyperthyroidism that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010598	hypoparathyroidism, dog	http://purl.obolibrary.org/obo/MONDO_1010056	hypoparathyroidism, non-human animal		Hypoparathyroidism that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010599	hypoparathyroidism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010056	hypoparathyroidism, non-human animal		Hypoparathyroidism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010600	hypoparathyroidism, horse	http://purl.obolibrary.org/obo/MONDO_1010056	hypoparathyroidism, non-human animal		Hypoparathyroidism that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010601	congenital hypothyroidism, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Congenital hypothyroidism that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010602	congenital hypothyroidism, TPO-related, dog	http://purl.obolibrary.org/obo/MONDO_1010057	congenital hypothyroidism, non-human animal		Congenital hypothyroidism that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010603	congenital hypothyroidism, TPO-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010057	congenital hypothyroidism, non-human animal		Congenital hypothyroidism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010604	congenital hypothyroidism, horse	http://purl.obolibrary.org/obo/MONDO_1010057	congenital hypothyroidism, non-human animal		Congenital hypothyroidism that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010605	congenital hypothyroidism, goat	http://purl.obolibrary.org/obo/MONDO_1010057	congenital hypothyroidism, non-human animal		Congenital hypothyroidism that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1010606	congenital hypothyroidism, sheep	http://purl.obolibrary.org/obo/MONDO_1010057	congenital hypothyroidism, non-human animal		Congenital hypothyroidism that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010607	exocrine pancreatic insufficiency, dog	http://purl.obolibrary.org/obo/MONDO_1010058	exocrine pancreatic insufficiency, non-human animal		Exocrine pancreatic insufficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010608	exocrine pancreatic insufficiency, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010058	exocrine pancreatic insufficiency, non-human animal		Exocrine pancreatic insufficiency that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010609	exocrine pancreatic insufficiency, tiger	http://purl.obolibrary.org/obo/MONDO_1010058	exocrine pancreatic insufficiency, non-human animal		Exocrine pancreatic insufficiency that occurs in tiger.
http://purl.obolibrary.org/obo/MONDO_1010610	thyroiditis, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1010059	thyroiditis, non-human animal		Thyroiditis that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1010611	thyroiditis, dog	http://purl.obolibrary.org/obo/MONDO_1010059	thyroiditis, non-human animal		Thyroiditis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010612	pheochromocytoma, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Pheochromocytoma that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010613	hyperaldosteronism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010061	hyperaldosteronism, non-human animal		Hyperaldosteronism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010614	congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, CYP11B1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010062	congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal		Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010615	congenital adrenal hypoplasia, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1010063	congenital adrenal hypoplasia, non-human animal		Congenital adrenal hypoplasia that occurs in crab-eating macaque.
http://purl.obolibrary.org/obo/MONDO_1010618	microcephaly, sheep	http://purl.obolibrary.org/obo/MONDO_1010066	microcephaly, non-human animal		Microcephaly that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010619	omphalocele, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010067	omphalocele, non-human animal		Omphalocele that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010620	omphalocele, horse	http://purl.obolibrary.org/obo/MONDO_1010067	omphalocele, non-human animal		Omphalocele that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010621	omphalocele, cattle	http://purl.obolibrary.org/obo/MONDO_1010067	omphalocele, non-human animal		Omphalocele that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010622	situs inversus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010068	situs inversus, non-human animal		Situs inversus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010623	situs inversus, horse	http://purl.obolibrary.org/obo/MONDO_1010068	situs inversus, non-human animal		Situs inversus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010624	situs inversus, cattle	http://purl.obolibrary.org/obo/MONDO_1010068	situs inversus, non-human animal		Situs inversus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010625	autoimmune thrombocytopenia, dog	http://purl.obolibrary.org/obo/MONDO_1010659	thrombocytopenia, dog		Autoimmune thrombocytopenia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010626	autoimmune thrombocytopenia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010660	thrombocytopenia, domestic cat		Autoimmune thrombocytopenia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010627	Chediak-Higashi syndrome, American mink, LYST-related, alpaca	http://purl.obolibrary.org/obo/MONDO_1010070	Chediak-Higashi syndrome, non-human animal		Chediak-Higashi syndrome that occurs in American mink.
http://purl.obolibrary.org/obo/MONDO_1010628	Chediak-Higashi syndrome, Arctic fox	http://purl.obolibrary.org/obo/MONDO_1010070	Chediak-Higashi syndrome, non-human animal		Chediak-Higashi syndrome that occurs in Arctic fox.
http://purl.obolibrary.org/obo/MONDO_1010629	Chediak-Higashi syndrome, LYST-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010070	Chediak-Higashi syndrome, non-human animal		Chediak-Higashi syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010630	Chediak-Higashi syndrome, killer whale	http://purl.obolibrary.org/obo/MONDO_1010070	Chediak-Higashi syndrome, non-human animal		Chediak-Higashi syndrome that occurs in killer whale.
http://purl.obolibrary.org/obo/MONDO_1010631	Chediak-Higashi syndrome, LYST-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010070	Chediak-Higashi syndrome, non-human animal		Chediak-Higashi syndrome that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010632	factor VII deficiency, F7-related, dog	http://purl.obolibrary.org/obo/MONDO_1010071	factor VII deficiency, non-human animal		Factor VII deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010633	factor VII deficiency, F7-related, Asiatic elephant	http://purl.obolibrary.org/obo/MONDO_1010071	factor VII deficiency, non-human animal		Factor VII deficiency that occurs in Asiatic elephant.
http://purl.obolibrary.org/obo/MONDO_1010634	factor X deficiency, dog	http://purl.obolibrary.org/obo/MONDO_1010072	factor X deficiency, non-human animal		Factor X deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010635	factor X deficiency, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010072	factor X deficiency, non-human animal		Factor X deficiency that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010636	factor XI deficiency, F11-related, dog	http://purl.obolibrary.org/obo/MONDO_1010073	factor XI deficiency, non-human animal		Factor XI deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010637	factor XI deficiency, F11-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010073	factor XI deficiency, non-human animal		Factor XI deficiency that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010638	factor XI deficiency, F11-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010073	factor XI deficiency, non-human animal		Factor XI deficiency that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010639	factor XII deficiency, dog	http://purl.obolibrary.org/obo/MONDO_1010074	factor XII deficiency, non-human animal		Factor XII deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010640	factor XII deficiency, F12-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010074	factor XII deficiency, non-human animal		Factor XII deficiency that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010641	factor XII deficiency, killer whale	http://purl.obolibrary.org/obo/MONDO_1010074	factor XII deficiency, non-human animal		Factor XII deficiency that occurs in killer whale.
http://purl.obolibrary.org/obo/MONDO_1010642	factor XII deficiency, common bottlenose dolphin	http://purl.obolibrary.org/obo/MONDO_1010074	factor XII deficiency, non-human animal		Factor XII deficiency that occurs in common bottlenose dolphin.
http://purl.obolibrary.org/obo/MONDO_1010643	hemophilia B, F9-related, dog	http://purl.obolibrary.org/obo/MONDO_1010075	hemophilia B, non-human animal		Hemophilia B that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010644	hemophilia B, F9-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010075	hemophilia B, non-human animal		Hemophilia B that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010645	hemophilia B, horse	http://purl.obolibrary.org/obo/MONDO_1010075	hemophilia B, non-human animal		Hemophilia B that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010646	hemophilia B, pig	http://purl.obolibrary.org/obo/MONDO_1010075	hemophilia B, non-human animal		Hemophilia B that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010647	hypereosinophilic syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1010441	cardiomyopathy, dog		Hypereosinophilic syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010648	hypereosinophilic syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010442	cardiomyopathy, domestic cat		Hypereosinophilic syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010649	hypereosinophilic syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1010076	hypereosinophilic syndrome, non-human animal		Hypereosinophilic syndrome that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010650	Pelger-Huet anomaly, dog	http://purl.obolibrary.org/obo/MONDO_1010077	Pelger-Huet anomaly, non-human animal		Pelger-Huet anomaly that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010651	Pelger-Huet anomaly, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010077	Pelger-Huet anomaly, non-human animal		Pelger-Huet anomaly that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010652	Pelger-Huet anomaly, rabbit	http://purl.obolibrary.org/obo/MONDO_1010077	Pelger-Huet anomaly, non-human animal		Pelger-Huet anomaly that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010653	polycythemia, JAK2-related, dog	http://purl.obolibrary.org/obo/MONDO_1010078	polycythemia, non-human animal		Polycythemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010654	polycythemia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010078	polycythemia, non-human animal		Polycythemia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010655	polycythemia, llama	http://purl.obolibrary.org/obo/MONDO_1010078	polycythemia, non-human animal		Polycythemia that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1010656	polycythemia, cattle	http://purl.obolibrary.org/obo/MONDO_1010078	polycythemia, non-human animal		Polycythemia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010657	prekallikrein deficiency, KLKB1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010079	prekallikrein deficiency, non-human animal		Prekallikrein deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010658	prekallikrein deficiency, horse	http://purl.obolibrary.org/obo/MONDO_1010079	prekallikrein deficiency, non-human animal		Prekallikrein deficiency that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010659	thrombocytopenia, dog	http://purl.obolibrary.org/obo/MONDO_1010080	thrombocytopenia, non-human animal		Thrombocytopenia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010660	thrombocytopenia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010080	thrombocytopenia, non-human animal		Thrombocytopenia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010661	thrombocytopenia, horse	http://purl.obolibrary.org/obo/MONDO_1010080	thrombocytopenia, non-human animal		Thrombocytopenia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010662	thrombocytopenia, cattle	http://purl.obolibrary.org/obo/MONDO_1010080	thrombocytopenia, non-human animal		Thrombocytopenia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010663	autoimmune thrombocytopenic purpura, dog	http://purl.obolibrary.org/obo/MONDO_1010625	autoimmune thrombocytopenia, dog		Autoimmune thrombocytopenic purpura that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010664	autoimmune thrombocytopenic purpura, pig	http://purl.obolibrary.org/obo/MONDO_1010081	autoimmune thrombocytopenic purpura, non-human animal		Autoimmune thrombocytopenic purpura that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010665	Evans syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1010661	thrombocytopenia, horse		Evans syndrome that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010666	Scott Syndrome, ANO6-related, dog	http://purl.obolibrary.org/obo/MONDO_1010083	Scott Syndrome, non-human animal		Scott Syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010668	factor XIII deficiency, F13A1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010085	factor XIII deficiency, non-human animal		Factor XIII deficiency that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010669	myeloperoxidase deficiency, MPO-related, dog	http://purl.obolibrary.org/obo/MONDO_1010086	myeloperoxidase deficiency, non-human animal		Myeloperoxidase deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010675	anotia, cattle	http://purl.obolibrary.org/obo/MONDO_1010090	anotia, non-human animal		Anotia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010676	microtia, HOXA1-related, pig	http://purl.obolibrary.org/obo/MONDO_1010091	microtia, non-human animal		Microtia that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010677	microtia, HMX1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010091	microtia, non-human animal		Microtia that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010678	AA amyloidosis, island gray fox	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in island gray fox.
http://purl.obolibrary.org/obo/MONDO_1010680	AA amyloidosis, cheetah	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in cheetah.
http://purl.obolibrary.org/obo/MONDO_1010681	AA amyloidosis, northern tree shrew	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in northern tree shrew.
http://purl.obolibrary.org/obo/MONDO_1010682	AA amyloidosis, zebra finch	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		AA amyloidosis that occurs in zebra finch.
http://purl.obolibrary.org/obo/MONDO_1010683	AA amyloidosis, chicken	http://purl.obolibrary.org/obo/MONDO_1010439	cardiomyopathy, chicken		AA amyloidosis that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010684	AA amyloidosis, bats	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in bats.
http://purl.obolibrary.org/obo/MONDO_1010685	AA amyloidosis, white-tufted-ear marmoset	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in white-tufted-ear marmoset.
http://purl.obolibrary.org/obo/MONDO_1010686	AA amyloidosis, dog	http://purl.obolibrary.org/obo/MONDO_1010441	cardiomyopathy, dog		AA amyloidosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010687	AA amyloidosis, red fox	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in red fox.
http://purl.obolibrary.org/obo/MONDO_1010688	AA amyloidosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010442	cardiomyopathy, domestic cat		AA amyloidosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010689	AA amyloidosis, Sumatran tiger	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in Sumatran tiger.
http://purl.obolibrary.org/obo/MONDO_1010690	AA amyloidosis, pig	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010691	AA amyloidosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010443	cardiomyopathy, cattle		AA amyloidosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010692	AA amyloidosis, goat	http://purl.obolibrary.org/obo/MONDO_1010444	cardiomyopathy, goat		AA amyloidosis that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1010693	AA amyloidosis, sheep	http://purl.obolibrary.org/obo/MONDO_1010092	AA amyloidosis, non-human animal		AA amyloidosis that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010694	AL amyloidosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010459	hypertrophic cardiomyopathy, domestic cat		AL amyloidosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010695	AL amyloidosis, horse	http://purl.obolibrary.org/obo/MONDO_1010093	AL amyloidosis, non-human animal		AL amyloidosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010696	analphalipoproteinaemia, ABCA1-related, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Analphalipoproteinaemia that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010697	citrullinaemia, ASS1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010095	citrullinemia, non-human animal		Citrullinemia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010701	pyruvate kinase deficiency of erythrocyte, PKLR-related, dog	http://purl.obolibrary.org/obo/MONDO_1010099	pyruvate kinase deficiency of erythrocyte, non-human animal		Pyruvate kinase deficiency of erythrocyte that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010702	pyruvate kinase deficiency of erythrocyte, PKLR-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010099	pyruvate kinase deficiency of erythrocyte, non-human animal		Pyruvate kinase deficiency of erythrocyte that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010705	galactosemia, kangaroo	http://purl.obolibrary.org/obo/MONDO_1010101	galactosemia, non-human animal		Galactosemia that occurs in kangaroo.
http://purl.obolibrary.org/obo/MONDO_1010706	porphyria cutanea tarda, pig	http://purl.obolibrary.org/obo/MONDO_1011588	porphyria, pig		Porphyria cutanea tarda that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010707	porphyria cutanea tarda, UROD-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010102	porphyria cutanea tarda, non-human animal		Porphyria cutanea tarda that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010708	eclampsia, dog	http://purl.obolibrary.org/obo/MONDO_1010103	eclampsia, non-human animal		Eclampsia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010709	trimethylaminuria (fishy taint), mallard	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Trimethylaminuria (fishy taint) that occurs in mallard.
http://purl.obolibrary.org/obo/MONDO_1010710	trimethylaminuria (fishy taint), FMO3-related, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Trimethylaminuria (fishy taint) that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010711	trimethylaminuria (fishy taint), Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Trimethylaminuria (fishy taint) that occurs in Japanese quail.
http://purl.obolibrary.org/obo/MONDO_1010712	trimethylaminuria (fishy taint), FMO3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010104	trimethylaminuria (fishy taint), non-human animal		Trimethylaminuria (fishy taint) that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010713	pyruvate dehydrogenase deficiency, PDP1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011007	peripheral neuropathy, dog		Pyruvate dehydrogenase deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010714	multiple acyl-CoA dehydrogenase deficiency, ETFDH-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010459	hypertrophic cardiomyopathy, domestic cat		Multiple acyl-coa dehydrogenase deficiency that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010715	multiple acyl-CoA dehydrogenase deficiency, horse	http://purl.obolibrary.org/obo/MONDO_1010106	multiple acyl-coa dehydrogenase deficiency, non-human animal		Multiple acyl-coa dehydrogenase deficiency that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010716	acute intermittent porphyria, HMBS-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011587	porphyria, domestic cat		Acute intermittent porphyria that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010718	dihydropyrimidinase deficiency, DPYS-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010109	dihydropyrimidinase deficiency, non-human animal		Dihydropyrimidinase deficiency that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010719	hyperphosphatemia, cattle	http://purl.obolibrary.org/obo/MONDO_1010110	hyperphosphatemia, non-human animal		Hyperphosphatemia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010723	glucocorticoid resistance, NR3C1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010113	glucocorticoid resistance, non-human animal		Glucocorticoid resistance that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010724	phenylketonuria, pig	http://purl.obolibrary.org/obo/MONDO_1010114	phenylketonuria, non-human animal		Phenylketonuria that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010725	c8 deficiency, rabbit	http://purl.obolibrary.org/obo/MONDO_1010115	c8 deficiency, non-human animal		C8 deficiency that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010733	systemic lupus erythematosus, dog	http://purl.obolibrary.org/obo/MONDO_1010118	systemic lupus erythematosus, non-human animal		Systemic lupus erythematosus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010734	systemic lupus erythematosus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010118	systemic lupus erythematosus, non-human animal		Systemic lupus erythematosus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010735	scleroderma, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Scleroderma that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010737	periodic fever syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1010121	periodic fever syndrome, non-human animal		Periodic fever syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010740	common variable immunodeficiency, horse	http://purl.obolibrary.org/obo/MONDO_1010123	common variable immunodeficiency, non-human animal		Common variable immunodeficiency that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010741	autoimmune lymphoproliferative syndrome, FASLG-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010124	autoimmune lymphoproliferative syndrome, non-human animal		Autoimmune lymphoproliferative syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010743	atopic dermatitis, dog	http://purl.obolibrary.org/obo/MONDO_1010126	atopic dermatitis, non-human animal		Atopic dermatitis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010744	atopic dermatitis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010126	atopic dermatitis, non-human animal		Atopic dermatitis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010745	dermatomyositis, dog	http://purl.obolibrary.org/obo/MONDO_1010931	polymyositis, dog		Dermatomyositis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010750	epidermolysis bullosa, dog	http://purl.obolibrary.org/obo/MONDO_1010129	epidermolysis bullosa, non-human animal		Epidermolysis bullosa that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010751	epidermolysis bullosa, cattle	http://purl.obolibrary.org/obo/MONDO_1010129	epidermolysis bullosa, non-human animal		Epidermolysis bullosa that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010752	hypertrichosis, dog	http://purl.obolibrary.org/obo/MONDO_1010130	hypertrichosis, non-human animal		Hypertrichosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010753	hypertrichosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010130	hypertrichosis, non-human animal		Hypertrichosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010757	acrodermatitis enteropathica, dog	http://purl.obolibrary.org/obo/MONDO_1010133	acrodermatitis enteropathica, non-human animal		Acrodermatitis enteropathica that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010758	acrodermatitis enteropathica, SLC39A4-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010133	acrodermatitis enteropathica, non-human animal		Acrodermatitis enteropathica that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010759	acrodermatitis enteropathica, SLC39A4-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010133	acrodermatitis enteropathica, non-human animal		Acrodermatitis enteropathica that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010760	pityriasis rosea, pig	http://purl.obolibrary.org/obo/MONDO_1010134	pityriasis rosea, non-human animal		Pityriasis rosea that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010761	protoporphyria, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Protoporphyria that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010762	protoporphyria, FECH-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010135	protoporphyria, non-human animal		Protoporphyria that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010763	vitiligo, water buffalo	http://purl.obolibrary.org/obo/MONDO_1010136	vitiligo, non-human animal		Vitiligo that occurs in water buffalo.
http://purl.obolibrary.org/obo/MONDO_1010764	vitiligo, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Vitiligo that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010765	vitiligo, dog	http://purl.obolibrary.org/obo/MONDO_1010136	vitiligo, non-human animal		Vitiligo that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010766	vitiligo, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010136	vitiligo, non-human animal		Vitiligo that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010767	vitiligo, horse	http://purl.obolibrary.org/obo/MONDO_1010136	vitiligo, non-human animal		Vitiligo that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010768	vitiligo, cattle	http://purl.obolibrary.org/obo/MONDO_1010136	vitiligo, non-human animal		Vitiligo that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010769	bullous pemphigoid, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1010137	bullous pemphigoid, non-human animal		Bullous pemphigoid that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1010770	bullous pemphigoid, dog	http://purl.obolibrary.org/obo/MONDO_1010137	bullous pemphigoid, non-human animal		Bullous pemphigoid that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010771	bullous pemphigoid, pig	http://purl.obolibrary.org/obo/MONDO_1010137	bullous pemphigoid, non-human animal		Bullous pemphigoid that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010772	pemphigus, dog	http://purl.obolibrary.org/obo/MONDO_1010138	pemphigus, non-human animal		Pemphigus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010773	pemphigus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010138	pemphigus, non-human animal		Pemphigus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010774	pemphigus, horse	http://purl.obolibrary.org/obo/MONDO_1010138	pemphigus, non-human animal		Pemphigus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010775	pemphigus, cattle	http://purl.obolibrary.org/obo/MONDO_1010138	pemphigus, non-human animal		Pemphigus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010776	pemphigus, goat	http://purl.obolibrary.org/obo/MONDO_1010138	pemphigus, non-human animal		Pemphigus that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1010777	atrichia with papular lesions, Rhesus monkey, HR-related, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1010139	atrichia with papular lesions, non-human animal		Atrichia with papular lesions that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1010778	alopecia areata, dog	http://purl.obolibrary.org/obo/MONDO_1010140	alopecia areata, non-human animal		Alopecia areata that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010779	alopecia areata, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010140	alopecia areata, non-human animal		Alopecia areata that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010780	alopecia areata, horse	http://purl.obolibrary.org/obo/MONDO_1010140	alopecia areata, non-human animal		Alopecia areata that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010781	alopecia areata, pig	http://purl.obolibrary.org/obo/MONDO_1010140	alopecia areata, non-human animal		Alopecia areata that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010782	alopecia areata, cattle	http://purl.obolibrary.org/obo/MONDO_1010140	alopecia areata, non-human animal		Alopecia areata that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010783	ectodermal dysplasia/skin fragility syndrome, PKP1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011500	epidermolysis bullosa simplex, dog		Ectodermal dysplasia/skin fragility syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010784	pyoderma, dog	http://purl.obolibrary.org/obo/MONDO_1010142	pyoderma, non-human animal		Pyoderma that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010785	incontinentia pigmenti, IKBKG-related, horse	http://purl.obolibrary.org/obo/MONDO_1010143	incontinentia pigmenti, non-human animal		Incontinentia pigmenti that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010789	stiff skin syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1010147	stiff skin syndrome, non-human animal		Stiff skin syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010791	tricho-dento-osseous-like syndrome, DLX3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010149	tricho-dento-osseous-like syndrome, non-human animal		Tricho-dento-osseous-like syndrome that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010796	Darier disease, ATP2A2-related, dog	http://purl.obolibrary.org/obo/MONDO_1010153	Darier disease, non-human animal		Darier disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010799	cutis laxa, sika deer	http://purl.obolibrary.org/obo/MONDO_1010155	cutis laxa, non-human animal		Cutis laxa that occurs in sika deer.
http://purl.obolibrary.org/obo/MONDO_1010800	brachydactyly, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Brachydactyly that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010801	brachydactyly, dog	http://purl.obolibrary.org/obo/MONDO_1010156	brachydactyly, non-human animal		Brachydactyly that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010802	brachydactyly, pig	http://purl.obolibrary.org/obo/MONDO_1010156	brachydactyly, non-human animal		Brachydactyly that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010803	brachydactyly, rabbit	http://purl.obolibrary.org/obo/MONDO_1010156	brachydactyly, non-human animal		Brachydactyly that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010804	hyperostosis, pig	http://purl.obolibrary.org/obo/MONDO_1010157	hyperostosis, non-human animal		Hyperostosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010805	polydactyly, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1010806	polydactyly, alpaca	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in alpaca.
http://purl.obolibrary.org/obo/MONDO_1010807	polydactyly, springbok	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in springbok.
http://purl.obolibrary.org/obo/MONDO_1010808	polydactyly, rock pigeon	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Polydactyly that occurs in rock pigeon.
http://purl.obolibrary.org/obo/MONDO_1010809	polydactyly, SHH-related, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Polydactyly that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010810	polydactyly, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Polydactyly that occurs in turkey.
http://purl.obolibrary.org/obo/MONDO_1010811	polydactyly, dog	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010812	polydactyly, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010813	polydactyly, horse	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010814	polydactyly, pig	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010815	polydactyly, Arabian camel	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in Arabian camel.
http://purl.obolibrary.org/obo/MONDO_1010816	polydactyly, guanaco	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in guanaco.
http://purl.obolibrary.org/obo/MONDO_1010817	polydactyly, llama	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1010818	polydactyly, Western roe deer	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in Western roe deer.
http://purl.obolibrary.org/obo/MONDO_1010819	polydactyly, cattle	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010820	polydactyly, goat	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1010821	polydactyly, sheep	http://purl.obolibrary.org/obo/MONDO_1010158	polydactyly, non-human animal		Polydactyly that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010822	split hand, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010159	split hand, non-human animal		Split hand that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010823	syndactyly, Swainson's hawk	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Syndactyly that occurs in Swainson's hawk.
http://purl.obolibrary.org/obo/MONDO_1010824	syndactyly, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Syndactyly that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010825	syndactyly, dog	http://purl.obolibrary.org/obo/MONDO_1010160	syndactyly, non-human animal		Syndactyly that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010826	syndactyly, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010160	syndactyly, non-human animal		Syndactyly that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010827	syndactyly, LRP4-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010160	syndactyly, non-human animal		Syndactyly that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010828	syndactyly, sheep	http://purl.obolibrary.org/obo/MONDO_1010160	syndactyly, non-human animal		Syndactyly that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010829	tibial hemimelia, ALX4-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010161	tibial hemimelia, non-human animal		Tibial hemimelia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010830	radial hemimelia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010162	radial hemimelia, non-human animal		Radial hemimelia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010831	tetradysmelia, RSPO2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010163	tetradysmelia, non-human animal		Tetradysmelia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010832	Wilson disease, ATP7B-related, dog	http://purl.obolibrary.org/obo/MONDO_1010164	Wilson disease, non-human animal		Wilson disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010833	Wilson disease, ATP7B-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010164	Wilson disease, non-human animal		Wilson disease that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010834	Wilson disease, pig	http://purl.obolibrary.org/obo/MONDO_1010164	Wilson disease, non-human animal		Wilson disease that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010835	Wilson disease, cattle	http://purl.obolibrary.org/obo/MONDO_1010164	Wilson disease, non-human animal		Wilson disease that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010836	Wilson disease, sheep	http://purl.obolibrary.org/obo/MONDO_1010164	Wilson disease, non-human animal		Wilson disease that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010838	galactosialidosis, dog	http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog		Galactosialidosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010839	gangliosidosis, emu	http://purl.obolibrary.org/obo/MONDO_1010858	lysosomal storage disease, emu		Gangliosidosis that occurs in emu.
http://purl.obolibrary.org/obo/MONDO_1010840	gangliosidosis, dog	http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog		Gangliosidosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010841	gangliosidosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat		Gangliosidosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010842	gangliosidosis, pig	http://purl.obolibrary.org/obo/MONDO_1010167	gangliosidosis, non-human animal		Gangliosidosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010843	gangliosidosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010862	lysosomal storage disease, cattle		Gangliosidosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010854	Krabbe disease, GALC-related, Rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1010170	Krabbe disease, non-human animal		Krabbe disease that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1010855	Krabbe disease, GALC-related, dog	http://purl.obolibrary.org/obo/MONDO_1011007	peripheral neuropathy, dog		Krabbe disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010856	Krabbe disease, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat		Krabbe disease that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010857	Krabbe disease, sheep	http://purl.obolibrary.org/obo/MONDO_1011006	leukodystrophy, sheep		Krabbe disease that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010858	lysosomal storage disease, emu	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Lysosomal storage disease that occurs in emu.
http://purl.obolibrary.org/obo/MONDO_1010859	lysosomal storage disease, kangaroo	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Lysosomal storage disease that occurs in kangaroo.
http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Lysosomal storage disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Lysosomal storage disease that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010862	lysosomal storage disease, cattle	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Lysosomal storage disease that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010863	alpha-mannosidosis, domestic guinea pig, Man2b1-related, guinea pig	http://purl.obolibrary.org/obo/MONDO_1010172	alpha-mannosidosis, non-human animal		Alpha-mannosidosis that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1010864	alpha-mannosidosis, MAN2B1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat		Alpha-mannosidosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010865	alpha-mannosidosis, MAN2B1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010862	lysosomal storage disease, cattle		Alpha-mannosidosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010866	alpha-mannosidosis, goat	http://purl.obolibrary.org/obo/MONDO_1010172	alpha-mannosidosis, non-human animal		Alpha-mannosidosis that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1010867	alpha-mannosidosis, sheep	http://purl.obolibrary.org/obo/MONDO_1010172	alpha-mannosidosis, non-human animal		Alpha-mannosidosis that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010905	deficiency of uridine monophosphate synthase, UMPS-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010191	deficiency of uridine monophosphate synthase, non-human animal		Deficiency of uridine monophosphate synthase that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010906	central core myopathy, dog	http://purl.obolibrary.org/obo/MONDO_1010918	congenital myopathy, dog		Central core myopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010907	central core myopathy, horse	http://purl.obolibrary.org/obo/MONDO_1010936	myofibrillar myopathy, horse		Central core myopathy that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010908	muscular dystrophy, American mink	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Muscular dystrophy that occurs in American mink.
http://purl.obolibrary.org/obo/MONDO_1010909	muscular dystrophy, WWP1-related, chicken	http://purl.obolibrary.org/obo/MONDO_1010916	myopathy, chicken		Muscular dystrophy that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010910	muscular dystrophy, turkey	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Muscular dystrophy that occurs in turkey.
http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1010917	myopathy, dog		Muscular dystrophy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010912	muscular dystrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Muscular dystrophy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010913	muscular dystrophy, sheep	http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal		Muscular dystrophy that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010915	myopathy, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010195	myopathy, non-human animal		Myopathy that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1010916	myopathy, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Myopathy that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1010917	myopathy, dog	http://purl.obolibrary.org/obo/MONDO_1010195	myopathy, non-human animal		Myopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010918	congenital myopathy, dog	http://purl.obolibrary.org/obo/MONDO_1010917	myopathy, dog		Congenital myopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010919	congenital myopathy, goat	http://purl.obolibrary.org/obo/MONDO_1010196	congenital myopathy, non-human animal		Congenital myopathy that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1010920	myositis ossificans, pig	http://purl.obolibrary.org/obo/MONDO_1010197	myositis ossificans, non-human animal		Myositis ossificans that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010921	myositis ossificans, cattle	http://purl.obolibrary.org/obo/MONDO_1010197	myositis ossificans, non-human animal		Myositis ossificans that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010922	myotonic dystrophy, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Myotonic dystrophy that occurs in Japanese quail.
http://purl.obolibrary.org/obo/MONDO_1010923	muscular dystrophy, Duchenne type, DMD-related, dog	http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog		Muscular dystrophy, Duchenne type that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010924	muscular dystrophy, Duchenne type, DMD-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010912	muscular dystrophy, domestic cat		Muscular dystrophy, Duchenne type that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010925	muscular dystrophy, Duchenne type, DMD-related, pig	http://purl.obolibrary.org/obo/MONDO_1010199	muscular dystrophy, Duchenne type, non-human animal		Muscular dystrophy, Duchenne type that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010927	congenital pseudomyotonia, dog	http://purl.obolibrary.org/obo/MONDO_1010917	myopathy, dog		Congenital pseudomyotonia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010928	congenital pseudomyotonia, ATP2A1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010201	congenital pseudomyotonia, non-human animal		Congenital pseudomyotonia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010929	myotubular myopathy, MTM1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010918	congenital myopathy, dog		Myotubular myopathy 1 that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010930	myotubular myopathy, MTM1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010202	myotubular myopathy 1, non-human animal		Myotubular myopathy 1 that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010931	polymyositis, dog	http://purl.obolibrary.org/obo/MONDO_1010917	myopathy, dog		Polymyositis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010936	myofibrillar myopathy, horse	http://purl.obolibrary.org/obo/MONDO_1010208	myofibrillar myopathy, non-human animal		Myofibrillar myopathy that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010937	lymphosarcoma, pig	http://purl.obolibrary.org/obo/MONDO_0700198	porcine lymphoma		Lymphosarcoma that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010938	lymphosarcoma, rabbit	http://purl.obolibrary.org/obo/MONDO_1010209	lymphosarcoma, non-human animal		Lymphosarcoma that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010939	malignant histiocytosis, dog	http://purl.obolibrary.org/obo/MONDO_1010210	malignant histiocytosis, non-human animal		Malignant histiocytosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010940	malignant histiocytosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010210	malignant histiocytosis, non-human animal		Malignant histiocytosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010941	malignant histiocytosis, pig	http://purl.obolibrary.org/obo/MONDO_1011529	histiocytosis, pig		Malignant histiocytosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010942	malignant histiocytosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011528	histiocytosis, cattle		Malignant histiocytosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010943	mycosis fungoides, dog	http://purl.obolibrary.org/obo/MONDO_0700169	canine cutaneous t-cell lymphoma		Mycosis fungoides that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010944	mycosis fungoides, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010949	non-hodgkin lymphoma, domestic cat		Mycosis fungoides that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010945	mycosis fungoides, horse	http://purl.obolibrary.org/obo/MONDO_0700172	horse lymphoma		Mycosis fungoides that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010947	chronic monocytic leukemia, dog	http://purl.obolibrary.org/obo/MONDO_0700144	canine leukemia		Chronic monocytic leukemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010948	non-hodgkin lymphoma, dog	http://purl.obolibrary.org/obo/MONDO_0700145	canine lymphoma		Non-hodgkin lymphoma that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010949	non-hodgkin lymphoma, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700176	feline lymphoma		Non-hodgkin lymphoma that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010950	familial adenomatous polyposis, APC-related, dog	http://purl.obolibrary.org/obo/MONDO_1010215	familial adenomatous polyposis, non-human animal		Familial adenomatous polyposis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010951	familial adenomatous polyposis, pig	http://purl.obolibrary.org/obo/MONDO_1010215	familial adenomatous polyposis, non-human animal		Familial adenomatous polyposis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010952	embryonal rhabdomyosarcoma, cattle	http://purl.obolibrary.org/obo/MONDO_0700134	bovine neoplasm		Embryonal rhabdomyosarcoma that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010953	schwannomatosis, cattle	http://purl.obolibrary.org/obo/MONDO_0700134	bovine neoplasm		Schwannomatosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010958	ameloblastoma, dog	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Ameloblastoma that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010960	chronic myelomonocytic leukemia, dog	http://purl.obolibrary.org/obo/MONDO_0700144	canine leukemia		Chronic myelomonocytic leukemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010961	prostate cancer, dog	http://purl.obolibrary.org/obo/MONDO_1010223	prostate cancer, non-human animal		Prostate cancer that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010962	benign prostatic hyperplasia, dog	http://purl.obolibrary.org/obo/MONDO_1010224	benign prostatic hyperplasia, non-human animal		Benign prostatic hyperplasia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010963	cystic hygroma, pig	http://purl.obolibrary.org/obo/MONDO_1010225	cystic hygroma, non-human animal		Cystic hygroma that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010964	lymphangiosarcoma, dog	http://purl.obolibrary.org/obo/MONDO_0700149	canine sarcoma		Lymphangiosarcoma that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010965	cauda equina syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1010227	cauda equina syndrome, non-human animal		Cauda equina syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010966	Dandy-Walker syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010228	Dandy-Walker syndrome, non-human animal		Dandy-Walker syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010967	Dandy-Walker syndrome, sheep	http://purl.obolibrary.org/obo/MONDO_1010228	Dandy-Walker syndrome, non-human animal		Dandy-Walker syndrome that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010968	dysautonomia, dog	http://purl.obolibrary.org/obo/MONDO_1010229	dysautonomia, non-human animal		Dysautonomia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010969	dysautonomia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010229	dysautonomia, non-human animal		Dysautonomia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010970	dysautonomia, horse	http://purl.obolibrary.org/obo/MONDO_1010229	dysautonomia, non-human animal		Dysautonomia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010971	dysautonomia, llama	http://purl.obolibrary.org/obo/MONDO_1010229	dysautonomia, non-human animal		Dysautonomia that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1010972	dysautonomia, rabbit	http://purl.obolibrary.org/obo/MONDO_1010229	dysautonomia, non-human animal		Dysautonomia that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010973	hepatic encephalopathy, dog	http://purl.obolibrary.org/obo/MONDO_1010230	hepatic encephalopathy, non-human animal		Hepatic encephalopathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010974	hepatic encephalopathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010230	hepatic encephalopathy, non-human animal		Hepatic encephalopathy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010975	hepatic encephalopathy, sheep	http://purl.obolibrary.org/obo/MONDO_1010230	hepatic encephalopathy, non-human animal		Hepatic encephalopathy that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010976	Huntington disease, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1010231	Huntington disease, non-human animal		Huntington disease that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1010977	Huntington disease, pig	http://purl.obolibrary.org/obo/MONDO_1010231	Huntington disease, non-human animal		Huntington disease that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010978	Huntington disease, sheep	http://purl.obolibrary.org/obo/MONDO_1010231	Huntington disease, non-human animal		Huntington disease that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010979	hydranencephaly, dog	http://purl.obolibrary.org/obo/MONDO_7770402	anencephaly/exencephaly, dog		Hydranencephaly that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010980	hydranencephaly, cattle	http://purl.obolibrary.org/obo/MONDO_1010232	hydranencephaly, non-human animal		Hydranencephaly that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010981	hydranencephaly, sheep	http://purl.obolibrary.org/obo/MONDO_1010232	hydranencephaly, non-human animal		Hydranencephaly that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010982	hydrocephalus, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1010983	hydrocephalus, yellow-crowned parrot	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Hydrocephalus that occurs in yellow-crowned parrot.
http://purl.obolibrary.org/obo/MONDO_1010984	hydrocephalus, dog	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010985	hydrocephalus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010986	hydrocephalus, tiger	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in tiger.
http://purl.obolibrary.org/obo/MONDO_1010987	hydrocephalus, puma	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in puma.
http://purl.obolibrary.org/obo/MONDO_1010988	hydrocephalus, B3GALNT2-related, horse	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1010989	hydrocephalus, pig	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1010990	hydrocephalus, llama	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1010991	hydrocephalus, cattle	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010992	hydrocephalus, sheep	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1010993	hydrocephalus, rabbit	http://purl.obolibrary.org/obo/MONDO_1010233	hydrocephalus, non-human animal		Hydrocephalus that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1010994	olivopontocerebellar atrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010234	olivopontocerebellar atrophy, non-human animal		Olivopontocerebellar atrophy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010995	spinal muscular atrophy, dog	http://purl.obolibrary.org/obo/MONDO_1010235	spinal muscular atrophy, non-human animal		Spinal muscular atrophy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010996	spinal muscular atrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010235	spinal muscular atrophy, non-human animal		Spinal muscular atrophy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1010997	spinal muscular atrophy, cattle	http://purl.obolibrary.org/obo/MONDO_1010235	spinal muscular atrophy, non-human animal		Spinal muscular atrophy that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1010998	syringomyelia, dog	http://purl.obolibrary.org/obo/MONDO_1010236	syringomyelia, non-human animal		Syringomyelia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1010999	syringomyelia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010236	syringomyelia, non-human animal		Syringomyelia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011000	syringomyelia, horse	http://purl.obolibrary.org/obo/MONDO_1010236	syringomyelia, non-human animal		Syringomyelia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011001	syringomyelia, cattle	http://purl.obolibrary.org/obo/MONDO_1010236	syringomyelia, non-human animal		Syringomyelia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011002	syringomyelia, rabbit	http://purl.obolibrary.org/obo/MONDO_1010236	syringomyelia, non-human animal		Syringomyelia that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011003	polymicrogyria, cattle	http://purl.obolibrary.org/obo/MONDO_1010237	polymicrogyria, non-human animal		Polymicrogyria that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011004	leukodystrophy, American mink	http://purl.obolibrary.org/obo/MONDO_1010238	leukodystrophy, non-human animal		Leukodystrophy that occurs in American mink.
http://purl.obolibrary.org/obo/MONDO_1011005	leukodystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1010238	leukodystrophy, non-human animal		Leukodystrophy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011006	leukodystrophy, sheep	http://purl.obolibrary.org/obo/MONDO_1010238	leukodystrophy, non-human animal		Leukodystrophy that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011007	peripheral neuropathy, dog	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Peripheral neuropathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011008	peripheral neuropathy, pig	http://purl.obolibrary.org/obo/MONDO_1010239	peripheral neuropathy, non-human animal		Peripheral neuropathy that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011009	Horner syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011007	peripheral neuropathy, dog		Horner syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011010	Horner syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010240	Horner syndrome, non-human animal		Horner syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011011	Horner syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1010240	Horner syndrome, non-human animal		Horner syndrome that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011012	Horner syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1010240	Horner syndrome, non-human animal		Horner syndrome that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011013	giant axonal neuropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011007	peripheral neuropathy, dog		Giant axonal neuropathy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011014	Alexander disease, GFAP-related, dog	http://purl.obolibrary.org/obo/MONDO_1011005	leukodystrophy, dog		Alexander disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011015	cerebellar degeneration, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Cerebellar degeneration that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1011016	cerebellar degeneration, dog	http://purl.obolibrary.org/obo/MONDO_1010243	cerebellar degeneration, non-human animal		Cerebellar degeneration that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011017	cerebellar degeneration, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010243	cerebellar degeneration, non-human animal		Cerebellar degeneration that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011018	L-2-hydroxyglutaricacidemia, L2HGDH-related, dog	http://purl.obolibrary.org/obo/MONDO_1010244	L-2-hydroxyglutaricacidemia, non-human animal		L-2-hydroxyglutaricacidemia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011019	L-2-hydroxyglutaricacidemia, L2HGDH-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010244	L-2-hydroxyglutaricacidemia, non-human animal		L-2-hydroxyglutaricacidemia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011020	hyperekplexia, SLC6A5-related, dog	http://purl.obolibrary.org/obo/MONDO_1010245	hyperekplexia, non-human animal		Hyperekplexia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011022	lissencephaly and cerebellar hypoplasia, RELN-related, dog	http://purl.obolibrary.org/obo/MONDO_1010247	lissencephaly and cerebellar hypoplasia, non-human animal		Lissencephaly and cerebellar hypoplasia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011026	lissencephaly and cerebellar hypoplasia, RELN-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010247	lissencephaly and cerebellar hypoplasia, non-human animal		Lissencephaly and cerebellar hypoplasia that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011028	ataxia telangiectasia, pig	http://purl.obolibrary.org/obo/MONDO_1010249	ataxia telangiectasia, non-human animal		Ataxia telangiectasia that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011031	succinic semialdehyde dehydrogenase deficiency, ALDH5A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010252	succinic semialdehyde dehydrogenase deficiency, non-human animal		Succinic semialdehyde dehydrogenase deficiency that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011043	glomerulonephritis, dog	http://purl.obolibrary.org/obo/MONDO_1011045	nephritis, dog		Glomerulonephritis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011044	glomerulonephritis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010258	glomerulonephritis, non-human animal		Glomerulonephritis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011045	nephritis, dog	http://purl.obolibrary.org/obo/MONDO_1010259	nephritis, non-human animal		Nephritis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011046	nephrolithiasis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011080	urolithiasis, domestic cat		Nephrolithiasis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011047	nephrotic syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1010261	nephrotic syndrome, non-human animal		Nephrotic syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011048	nephrotic syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010261	nephrotic syndrome, non-human animal		Nephrotic syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011049	polycystic kidney disease, degu	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in degu.
http://purl.obolibrary.org/obo/MONDO_1011050	polycystic kidney disease, markhor	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in markhor.
http://purl.obolibrary.org/obo/MONDO_1011051	polycystic kidney disease, springbok	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in springbok.
http://purl.obolibrary.org/obo/MONDO_1011052	polycystic kidney disease, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in crab-eating macaque.
http://purl.obolibrary.org/obo/MONDO_1011053	polycystic kidney disease, PKD1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011054	polycystic kidney disease, PKD1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011055	polycystic kidney disease, lion	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in lion.
http://purl.obolibrary.org/obo/MONDO_1011056	polycystic kidney disease, horse	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011057	polycystic kidney disease, PKD1-related, pig	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011058	polycystic kidney disease, Western roe deer	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in Western roe deer.
http://purl.obolibrary.org/obo/MONDO_1011060	polycystic kidney disease, sheep	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011061	polycystic kidney disease, rabbit	http://purl.obolibrary.org/obo/MONDO_1010262	polycystic kidney disease, non-human animal		Polycystic kidney disease that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011063	renal hypoplasia, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Renal hypoplasia that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1011064	renal hypoplasia, unilateral, pig	http://purl.obolibrary.org/obo/MONDO_1010265	renal hypoplasia, unilateral, non-human animal		Renal hypoplasia, unilateral that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011065	renal hypoplasia, bilateral, dog	http://purl.obolibrary.org/obo/MONDO_1010266	renal hypoplasia, bilateral, non-human animal		Renal hypoplasia, bilateral that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011066	renal hypoplasia, bilateral, pig	http://purl.obolibrary.org/obo/MONDO_1010266	renal hypoplasia, bilateral, non-human animal		Renal hypoplasia, bilateral that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011067	urolithiasis, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1011068	urolithiasis, Silvery lutung	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in Silvery lutung.
http://purl.obolibrary.org/obo/MONDO_1011069	urolithiasis, Javan langur	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in Javan langur.
http://purl.obolibrary.org/obo/MONDO_1011070	urolithiasis, long-tailed chinchilla	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in long-tailed chinchilla.
http://purl.obolibrary.org/obo/MONDO_1011071	urolithiasis, American mink	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in American mink.
http://purl.obolibrary.org/obo/MONDO_1011072	urolithiasis, Red shanked douc langur	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in Red shanked douc langur.
http://purl.obolibrary.org/obo/MONDO_1011073	urolithiasis, Francois's langur	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in Francois's langur.
http://purl.obolibrary.org/obo/MONDO_1011074	urolithiasis, Dusky leaf-monkey	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in Dusky leaf-monkey.
http://purl.obolibrary.org/obo/MONDO_1011075	urolithiasis, Siberian chipmunk	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in Siberian chipmunk.
http://purl.obolibrary.org/obo/MONDO_1011076	urolithiasis, kangaroo	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in kangaroo.
http://purl.obolibrary.org/obo/MONDO_1011077	urolithiasis, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1011078	urolithiasis, SLC2A9-related, dog	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011079	urolithiasis, domestic ferret	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in domestic ferret.
http://purl.obolibrary.org/obo/MONDO_1011080	urolithiasis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011081	urolithiasis, horse	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011082	urolithiasis, pig	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011083	urolithiasis, llama	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1011084	urolithiasis, cattle	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011085	urolithiasis, goat	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011086	urolithiasis, sheep	http://purl.obolibrary.org/obo/MONDO_1010267	urolithiasis, non-human animal		Urolithiasis that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011087	renal dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1010268	renal dysplasia, non-human animal		Renal dysplasia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011088	renal dysplasia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010268	renal dysplasia, non-human animal		Renal dysplasia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011089	renal dysplasia, horse	http://purl.obolibrary.org/obo/MONDO_1010268	renal dysplasia, non-human animal		Renal dysplasia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011090	renal dysplasia, CLDN16-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010268	renal dysplasia, non-human animal		Renal dysplasia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011091	hypospadias, dog	http://purl.obolibrary.org/obo/MONDO_1010269	hypospadias, non-human animal		Hypospadias that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011092	hypospadias, horse	http://purl.obolibrary.org/obo/MONDO_1010269	hypospadias, non-human animal		Hypospadias that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011093	hypospadias, cattle	http://purl.obolibrary.org/obo/MONDO_1010269	hypospadias, non-human animal		Hypospadias that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011094	hypospadias, goat	http://purl.obolibrary.org/obo/MONDO_1010269	hypospadias, non-human animal		Hypospadias that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011095	hypospadias, sheep	http://purl.obolibrary.org/obo/MONDO_1010269	hypospadias, non-human animal		Hypospadias that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011096	alkaptonuria, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1010270	alkaptonuria, non-human animal		Alkaptonuria that occurs in crab-eating macaque.
http://purl.obolibrary.org/obo/MONDO_1011098	alkaptonuria, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010270	alkaptonuria, non-human animal		Alkaptonuria that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011099	alkaptonuria, rabbit	http://purl.obolibrary.org/obo/MONDO_1010270	alkaptonuria, non-human animal		Alkaptonuria that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011102	renal agenesis, dog	http://purl.obolibrary.org/obo/MONDO_1010272	renal agenesis, non-human animal		Renal agenesis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011103	renal agenesis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010272	renal agenesis, non-human animal		Renal agenesis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011104	renal agenesis, rabbit	http://purl.obolibrary.org/obo/MONDO_1010272	renal agenesis, non-human animal		Renal agenesis that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011108	cryptorchidism, dog	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011109	cryptorchidism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011110	cryptorchidism, puma	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in puma.
http://purl.obolibrary.org/obo/MONDO_1011111	cryptorchidism, horse	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011112	cryptorchidism, pig	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011113	cryptorchidism, Arabian camel	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in Arabian camel.
http://purl.obolibrary.org/obo/MONDO_1011114	cryptorchidism, llama	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1011115	cryptorchidism, cattle	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011116	cryptorchidism, goat	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011117	cryptorchidism, sheep	http://purl.obolibrary.org/obo/MONDO_1010275	cryptorchidism, non-human animal		Cryptorchidism that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011118	hypogonadism, dog	http://purl.obolibrary.org/obo/MONDO_1010276	hypogonadism, non-human animal		Hypogonadism that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011119	hypogonadism, deer	http://purl.obolibrary.org/obo/MONDO_1010276	hypogonadism, non-human animal		Hypogonadism that occurs in deer.
http://purl.obolibrary.org/obo/MONDO_1011120	orchitis, dog	http://purl.obolibrary.org/obo/MONDO_1010277	orchitis, non-human animal		Orchitis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011121	orchitis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010277	orchitis, non-human animal		Orchitis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011122	persistent Mullerian duct syndrome, dog	http://purl.obolibrary.org/obo/MONDO_7770429	difference of sexual development, wolf		Persistent Mullerian duct syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011123	persistent Mullerian duct syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010278	persistent Mullerian duct syndrome, non-human animal		Persistent Mullerian duct syndrome that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011124	persistent Mullerian duct syndrome, goat	http://purl.obolibrary.org/obo/MONDO_1010278	persistent Mullerian duct syndrome, non-human animal		Persistent Mullerian duct syndrome that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011125	priapism, dog	http://purl.obolibrary.org/obo/MONDO_1010280	priapism, non-human animal		Priapism that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011126	priapism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010280	priapism, non-human animal		Priapism that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011127	testicular regression syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1010281	testicular regression syndrome, non-human animal		Testicular regression syndrome that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011128	azoospermia, horse	http://purl.obolibrary.org/obo/MONDO_1010282	azoospermia, non-human animal		Azoospermia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011130	allergic rhinitis, cattle	http://purl.obolibrary.org/obo/MONDO_1010284	allergic rhinitis, non-human animal		Allergic rhinitis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011131	atrophic rhinitis, pig	http://purl.obolibrary.org/obo/MONDO_1010285	atrophic rhinitis, non-human animal		Atrophic rhinitis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011132	atrophic rhinitis, cattle	http://purl.obolibrary.org/obo/MONDO_1010285	atrophic rhinitis, non-human animal		Atrophic rhinitis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011133	pneumothorax, dog	http://purl.obolibrary.org/obo/MONDO_1010286	pneumothorax, non-human animal		Pneumothorax that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011134	pneumothorax, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010286	pneumothorax, non-human animal		Pneumothorax that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011135	pulmonary hypertension, pig	http://purl.obolibrary.org/obo/MONDO_1010287	pulmonary hypertension, non-human animal		Pulmonary hypertension that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011136	pulmonary hypertension, cattle	http://purl.obolibrary.org/obo/MONDO_1010287	pulmonary hypertension, non-human animal		Pulmonary hypertension that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011138	choanal atresia, alpaca	http://purl.obolibrary.org/obo/MONDO_1010289	choanal atresia, non-human animal		Choanal atresia that occurs in alpaca.
http://purl.obolibrary.org/obo/MONDO_1011139	choanal atresia, dog	http://purl.obolibrary.org/obo/MONDO_1010289	choanal atresia, non-human animal		Choanal atresia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011140	choanal atresia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010289	choanal atresia, non-human animal		Choanal atresia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011141	choanal atresia, ass	http://purl.obolibrary.org/obo/MONDO_1010289	choanal atresia, non-human animal		Choanal atresia that occurs in ass.
http://purl.obolibrary.org/obo/MONDO_1011142	choanal atresia, horse	http://purl.obolibrary.org/obo/MONDO_1010289	choanal atresia, non-human animal		Choanal atresia that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011143	choanal atresia, llama	http://purl.obolibrary.org/obo/MONDO_1010289	choanal atresia, non-human animal		Choanal atresia that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1011144	choanal atresia, sheep	http://purl.obolibrary.org/obo/MONDO_1010289	choanal atresia, non-human animal		Choanal atresia that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011145	pulmonary agenesis, horse	http://purl.obolibrary.org/obo/MONDO_1010290	pulmonary agenesis, non-human animal		Pulmonary agenesis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011146	achondroplasia, water buffalo	http://purl.obolibrary.org/obo/MONDO_1010291	achondroplasia, non-human animal		Achondroplasia that occurs in water buffalo.
http://purl.obolibrary.org/obo/MONDO_1011147	achondroplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011194	osteochondrodysplasia, dog		Achondroplasia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011148	achondroplasia, cattle	http://purl.obolibrary.org/obo/MONDO_1010291	achondroplasia, non-human animal		Achondroplasia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011149	achondroplasia, sheep	http://purl.obolibrary.org/obo/MONDO_1010291	achondroplasia, non-human animal		Achondroplasia that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011150	ankylosing spondylitis, dog	http://purl.obolibrary.org/obo/MONDO_1011153	rheumatoid arthritis, dog		Ankylosing spondylitis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011151	anodontia, dog	http://purl.obolibrary.org/obo/MONDO_1010293	anodontia, non-human animal		Anodontia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011152	anodontia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010293	anodontia, non-human animal		Anodontia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011153	rheumatoid arthritis, dog	http://purl.obolibrary.org/obo/MONDO_1010294	rheumatoid arthritis, non-human animal		Rheumatoid arthritis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011154	osteoporosis, horse	http://purl.obolibrary.org/obo/MONDO_1010295	osteoporosis, non-human animal		Osteoporosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011155	Marfan syndrome, FBN1-related, pig	http://purl.obolibrary.org/obo/MONDO_1010296	Marfan syndrome, non-human animal		Marfan syndrome that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011156	Marfan syndrome, FBN1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010296	Marfan syndrome, non-human animal		Marfan syndrome that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011157	osteoarthritis, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in domestic guinea pig.
http://purl.obolibrary.org/obo/MONDO_1011158	osteoarthritis, sea otter	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in sea otter.
http://purl.obolibrary.org/obo/MONDO_1011159	osteoarthritis, koala	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in koala.
http://purl.obolibrary.org/obo/MONDO_1011160	osteoarthritis, dog	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011161	osteoarthritis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011162	osteoarthritis, horse	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011163	osteoarthritis, pig	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011164	osteoarthritis, cattle	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011165	osteoarthritis, sheep	http://purl.obolibrary.org/obo/MONDO_1010297	osteoarthritis, non-human animal		Osteoarthritis that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011166	osteochondritis dissecans, snow leopard	http://purl.obolibrary.org/obo/MONDO_1010298	osteochondritis dissecans, non-human animal		Osteochondritis dissecans that occurs in snow leopard.
http://purl.obolibrary.org/obo/MONDO_1011167	osteochondritis dissecans, dog	http://purl.obolibrary.org/obo/MONDO_1010298	osteochondritis dissecans, non-human animal		Osteochondritis dissecans that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011168	osteochondritis dissecans, horse	http://purl.obolibrary.org/obo/MONDO_1010298	osteochondritis dissecans, non-human animal		Osteochondritis dissecans that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011169	osteochondrosis, raccoon dog	http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal		Osteochondrosis that occurs in raccoon dog.
http://purl.obolibrary.org/obo/MONDO_1011170	osteochondrosis, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Osteochondrosis that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1011171	osteochondrosis, dog	http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal		Osteochondrosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011172	osteochondrosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal		Osteochondrosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011173	osteochondrosis, horse	http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal		Osteochondrosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011174	osteochondrosis, pig	http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal		Osteochondrosis that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011175	osteochondrosis, deer	http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal		Osteochondrosis that occurs in deer.
http://purl.obolibrary.org/obo/MONDO_1011176	osteochondrosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal		Osteochondrosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011177	osteochondrosis, sheep	http://purl.obolibrary.org/obo/MONDO_1010299	osteochondrosis, non-human animal		Osteochondrosis that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011178	osteopetrosis, MITF-related, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Osteopetrosis that occurs in Japanese quail.
http://purl.obolibrary.org/obo/MONDO_1011179	osteopetrosis, ass	http://purl.obolibrary.org/obo/MONDO_1010300	osteopetrosis, non-human animal		Osteopetrosis that occurs in ass.
http://purl.obolibrary.org/obo/MONDO_1011180	osteopetrosis, horse	http://purl.obolibrary.org/obo/MONDO_1010300	osteopetrosis, non-human animal		Osteopetrosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011181	osteopetrosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010300	osteopetrosis, non-human animal		Osteopetrosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011182	osteopetrosis, rabbit	http://purl.obolibrary.org/obo/MONDO_1010300	osteopetrosis, non-human animal		Osteopetrosis that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011186	scoliosis, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Scoliosis that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1011187	scoliosis, dog	http://purl.obolibrary.org/obo/MONDO_1010302	scoliosis, non-human animal		Scoliosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011188	scoliosis, horse	http://purl.obolibrary.org/obo/MONDO_1010302	scoliosis, non-human animal		Scoliosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011189	spinal stenosis, dog	http://purl.obolibrary.org/obo/MONDO_1010303	spinal stenosis, non-human animal		Spinal stenosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011190	spinal stenosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010303	spinal stenosis, non-human animal		Spinal stenosis that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011191	synovial chondromatosis, great horned owl	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Synovial chondromatosis that occurs in great horned owl.
http://purl.obolibrary.org/obo/MONDO_1011192	synovial chondromatosis, horse	http://purl.obolibrary.org/obo/MONDO_0700170	equine neoplasm		Synovial chondromatosis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011193	craniosynostosis, rabbit	http://purl.obolibrary.org/obo/MONDO_1010305	craniosynostosis, non-human animal		Craniosynostosis that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011194	osteochondrodysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Osteochondrodysplasia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011195	osteochondrodysplasia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Osteochondrodysplasia that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011201	schmid metaphyseal chondrodysplasia dwarfism, COL10A1-related, pig	http://purl.obolibrary.org/obo/MONDO_1010310	schmid metaphyseal chondrodysplasia dwarfism, non-human animal		Schmid metaphyseal chondrodysplasia dwarfism that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011203	osteopetrosis with gingival hamartomas, CLCN7-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011181	osteopetrosis, cattle		Osteopetrosis with gingival hamartomas that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011204	spondylocostal dysostosis, autosomal recessive, HES7-related, dog	http://purl.obolibrary.org/obo/MONDO_1010313	spondylocostal dysostosis, autosomal recessive, non-human animal		Spondylocostal dysostosis, autosomal recessive that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011205	Van den Ende-Gupta syndrome, SCARF2-related, dog	http://purl.obolibrary.org/obo/MONDO_1010314	Van den Ende-Gupta syndrome, non-human animal		Van den Ende-Gupta syndrome that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011206	periodontitis, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1010315	periodontitis, non-human animal		Periodontitis that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1011207	hypophosphatasia, ALPL-related, dog	http://purl.obolibrary.org/obo/MONDO_1010316	hypophosphatasia, non-human animal		Hypophosphatasia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011208	hypophosphatasia, ALPL-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010316	hypophosphatasia, non-human animal		Hypophosphatasia that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011210	GAPO syndrome, pig	http://purl.obolibrary.org/obo/MONDO_1010318	GAPO syndrome, non-human animal		GAPO syndrome that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011211	coloboma, snow leopard	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma that occurs in snow leopard.
http://purl.obolibrary.org/obo/MONDO_1011212	coloboma, Mexican tetra	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma that occurs in Mexican tetra.
http://purl.obolibrary.org/obo/MONDO_1011213	coloboma, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Coloboma that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1011214	coloboma, dog	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011215	coloboma, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011216	coloboma, horse	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011217	coloboma, llama	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma that occurs in llama.
http://purl.obolibrary.org/obo/MONDO_1011218	coloboma, cattle	http://purl.obolibrary.org/obo/MONDO_1010319	coloboma, non-human animal		Coloboma that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011219	corneal dystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1010320	corneal dystrophy, non-human animal		Corneal dystrophy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011220	corneal dystrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010320	corneal dystrophy, non-human animal		Corneal dystrophy that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011221	retinal detachment, dog	http://purl.obolibrary.org/obo/MONDO_1010321	retinal detachment, non-human animal		Retinal detachment that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011222	retinal detachment, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010321	retinal detachment, non-human animal		Retinal detachment that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011223	retinal detachment, horse	http://purl.obolibrary.org/obo/MONDO_1010321	retinal detachment, non-human animal		Retinal detachment that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011224	ectropion, dog	http://purl.obolibrary.org/obo/MONDO_1010322	ectropion, non-human animal		Ectropion that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011225	entropion, dog	http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal		Entropion that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011226	entropion, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal		Entropion that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011227	entropion, horse	http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal		Entropion that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011228	entropion, pig	http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal		Entropion that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011229	entropion, cattle	http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal		Entropion that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011230	entropion, goat	http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal		Entropion that occurs in goat.
http://purl.obolibrary.org/obo/MONDO_1011231	entropion, sheep	http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal		Entropion that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011232	entropion, rabbit	http://purl.obolibrary.org/obo/MONDO_1010323	entropion, non-human animal		Entropion that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_1011233	microphthalmia, golden hamster	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in golden hamster.
http://purl.obolibrary.org/obo/MONDO_1011234	microphthalmia, Campbell's desert hamster	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in Campbell's desert hamster.
http://purl.obolibrary.org/obo/MONDO_1011235	microphthalmia, Nile tilapia	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in Nile tilapia.
http://purl.obolibrary.org/obo/MONDO_1011236	microphthalmia, water buffalo	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in water buffalo.
http://purl.obolibrary.org/obo/MONDO_1011237	microphthalmia, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Microphthalmia that occurs in chicken.
http://purl.obolibrary.org/obo/MONDO_1011238	microphthalmia, dog	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011239	microphthalmia, pig	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011240	microphthalmia, Eastern wapiti	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in Eastern wapiti.
http://purl.obolibrary.org/obo/MONDO_1011241	microphthalmia, cattle	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011242	microphthalmia, PITX3-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010324	microphthalmia, non-human animal		Microphthalmia that occurs in sheep.
http://purl.obolibrary.org/obo/MONDO_1011243	congenital nystagmus, dog	http://purl.obolibrary.org/obo/MONDO_1010325	congenital nystagmus, non-human animal		Congenital nystagmus that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011244	retinal degeneration, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Retinal degeneration that occurs in crab-eating macaque.
http://purl.obolibrary.org/obo/MONDO_1011245	retinal degeneration, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Retinal degeneration that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011246	retinal degeneration, horse	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Retinal degeneration that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011247	retinal degeneration, cattle	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Retinal degeneration that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011248	strabismus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010327	strabismus, non-human animal		Strabismus that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011249	retinoschisis, dog	http://purl.obolibrary.org/obo/MONDO_1010328	retinoschisis, non-human animal		Retinoschisis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011250	leber congenital amaurosis, RPE65-related, dog	http://purl.obolibrary.org/obo/MONDO_1010329	Leber congenital amaurosis, non-human animal		Leber congenital amaurosis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011251	leber congenital amaurosis, AIPL1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011245	retinal degeneration, domestic cat		Leber congenital amaurosis that occurs in domestic cat.
http://purl.obolibrary.org/obo/MONDO_1011252	keratitis, dog	http://purl.obolibrary.org/obo/MONDO_1010330	keratitis, non-human animal		Keratitis that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011253	keratitis, horse	http://purl.obolibrary.org/obo/MONDO_1010330	keratitis, non-human animal		Keratitis that occurs in horse.
http://purl.obolibrary.org/obo/MONDO_1011258	retinitis pigmentosa, pig	http://purl.obolibrary.org/obo/MONDO_1010334	retinitis pigmentosa, non-human animal		Retinitis pigmentosa that occurs in pig.
http://purl.obolibrary.org/obo/MONDO_1011259	retinitis pigmentosa, cattle	http://purl.obolibrary.org/obo/MONDO_1011247	retinal degeneration, cattle		Retinitis pigmentosa that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011263	myopia, dog	http://purl.obolibrary.org/obo/MONDO_1010337	myopia, non-human animal		Myopia that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011270	diabetic cataract, degu	http://purl.obolibrary.org/obo/MONDO_1010343	diabetic cataract, non-human animal		Diabetic cataract that occurs in degu.
http://purl.obolibrary.org/obo/MONDO_1011271	Peters anomaly, snow leopard	http://purl.obolibrary.org/obo/MONDO_1010344	Peters anomaly, non-human animal		Peters anomaly that occurs in snow leopard.
http://purl.obolibrary.org/obo/MONDO_1011278	macular corneal dystrophy, LOC489707-related, dog	http://purl.obolibrary.org/obo/MONDO_1011219	corneal dystrophy, dog		Macular corneal dystrophy that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011279	age-related macular degeneration, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1010351	age-related macular degeneration, non-human animal		Age-related macular degeneration that occurs in Rhesus monkey.
http://purl.obolibrary.org/obo/MONDO_1011280	microphthalmia, isolated, with coloboma, RBP4-related, dog	http://purl.obolibrary.org/obo/MONDO_1011238	microphthalmia, dog		Microphthalmia, isolated, with coloboma that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011286	Leber hereditary optic neuropathy, ND4L-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010451	dilated cardiomyopathy, OPA3-related, cattle		Leber hereditary optic neuropathy that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011287	night blindness, dog	http://purl.obolibrary.org/obo/MONDO_1010359	night blindness, non-human animal		Night blindness that occurs in dog.
http://purl.obolibrary.org/obo/MONDO_1011288	night blindness, cattle	http://purl.obolibrary.org/obo/MONDO_1010359	night blindness, non-human animal		Night blindness that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_1011289	dacryocystitis, rabbit	http://purl.obolibrary.org/obo/MONDO_1010360	dacryocystitis, non-human animal		Dacryocystitis that occurs in rabbit.
http://purl.obolibrary.org/obo/MONDO_0100558	RNU4ATAC spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome.
http://purl.obolibrary.org/obo/MONDO_0968986	chaotic conus spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0958350	conus spinal cord lipoma		A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.
http://purl.obolibrary.org/obo/MONDO_0968987	extramedullary conus spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0958350	conus spinal cord lipoma		A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs.
http://purl.obolibrary.org/obo/MONDO_0968988	saccular spinal dysraphism with a stalk to the dome	http://purl.obolibrary.org/obo/MONDO_0958345	limited dorsal myeloschisis		A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).
http://purl.obolibrary.org/obo/MONDO_0968989	non-saccular limited dorsal myeloschisis	http://purl.obolibrary.org/obo/MONDO_0958345	limited dorsal myeloschisis		A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.
http://purl.obolibrary.org/obo/MONDO_1030000	hyperinsulinemic hypoglycemia with polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0005803	hyperinsulinemic hypoglycemia		Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.
http://purl.obolibrary.org/obo/FOODON_03000004	green mud crab	http://purl.obolibrary.org/obo/FOODON_03412215	mud crab family		Scylla paramamosain is a mud crab commonly consumed in South-east Asia.
http://purl.obolibrary.org/obo/FOODON_03000001	food peeling	http://purl.obolibrary.org/obo/FOODON_03460130	physical/chemical modification process		The process of removing the outer covering, layer or skin from a fruit, vegetable, or plant or animal (such as a shrimp).
http://purl.obolibrary.org/obo/ENVO_09000019	concentration of chloride in water	http://purl.obolibrary.org/obo/PATO_0000033	concentration of		The concentration of a chloride when measured in water.
http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency	http://purl.obolibrary.org/obo/MONDO_0003832	complement deficiency		A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.
http://purl.obolibrary.org/obo/MONDO_0000022	nocturnal enuresis	http://purl.obolibrary.org/obo/MONDO_0024290	enuresis		Urination during sleep.
http://purl.obolibrary.org/obo/MONDO_0000030	familial sleep-related hypermotor epilepsy	http://purl.obolibrary.org/obo/MONDO_0100631	sleep-related hypermotor epilepsy		An instance of sleep-related hypermotor epilepsy that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0000062	isolated microphthalmia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A microphthalmia that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0000066	mitochondrial respiratory chain complex deficiency	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.
http://purl.obolibrary.org/obo/MONDO_0000078	acrocephalopolysyndactyly	http://purl.obolibrary.org/obo/MONDO_0019796	acrocephalosyndactyly		A common presentation of craniosynostosis and polysyndactyly.
http://purl.obolibrary.org/obo/MONDO_0000115	Chiari malformation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.
http://purl.obolibrary.org/obo/MONDO_0000128	giant axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.
http://purl.obolibrary.org/obo/MONDO_0000141	mosaic variegated aneuploidy syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
http://purl.obolibrary.org/obo/MONDO_0000152	thiamine-responsive dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0017578	disorder of thiamine metabolism and transport		A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_0000155	triglyceride storage disease	http://purl.obolibrary.org/obo/MONDO_0019245	lysosomal lipid storage disorder		An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride.
http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic	http://purl.obolibrary.org/obo/MONDO_0100577	myoclonic epilepsy		An epilepsy syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.
http://purl.obolibrary.org/obo/MONDO_0000167	Huntington disease and related disorders	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A grouping for Huntington disease and similar diseases.
http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
http://purl.obolibrary.org/obo/MONDO_0000182	congenital myasthenic syndrome with tubular aggregates	http://purl.obolibrary.org/obo/MONDO_0018940	congenital myasthenic syndrome		A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.
http://purl.obolibrary.org/obo/MONDO_0000188	GLUT1 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0045015	carbohydrate transport disease		An epileptic encephalopathy resulting from impaired glucose transport into the brain.
http://purl.obolibrary.org/obo/MONDO_0000212	hypercalcemia, infantile	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A hypercalcemia disease that occurs between 28 days to one year of life.
http://purl.obolibrary.org/obo/MONDO_0019154	androgen insensitivity syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).
http://purl.obolibrary.org/obo/MONDO_0021001	hemochromatosis type 1	http://purl.obolibrary.org/obo/MONDO_0006507	hereditary hemochromatosis		Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease
http://purl.obolibrary.org/obo/MONDO_0021008	secondary antiphospholipid syndrome	http://purl.obolibrary.org/obo/MONDO_8000010	antiphospholipid syndrome		An antiphospholipid syndrome that occurs alongside another autoimmune disorder.
http://purl.obolibrary.org/obo/MONDO_0021017	synaptopathy	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A disease caused by dysfunction of synapses.
http://purl.obolibrary.org/obo/MONDO_0021056	familial adenomatous polyposis 1	http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis		An autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP).
http://purl.obolibrary.org/obo/MONDO_0021081	anti-NMDA receptor encephalitis	http://purl.obolibrary.org/obo/MONDO_0019956	encephalitis		An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.
http://purl.obolibrary.org/obo/MONDO_0021083	congenital fibrosis of extraocular muscles type 1	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.
http://purl.obolibrary.org/obo/MONDO_0021090	lipid-rich breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003982	bilateral breast carcinoma		An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.
http://purl.obolibrary.org/obo/MONDO_0021093	cranioectodermal dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0009032	cranioectodermal dysplasia		Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.
http://purl.obolibrary.org/obo/MONDO_0024282	mucinous ovarian cancer	http://purl.obolibrary.org/obo/MONDO_0018364	malignant epithelial tumor of ovary		An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.
http://purl.obolibrary.org/obo/MONDO_0024291	vascular malformation	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A non-neoplastic disorder that is the result of defects of vascular morphogenesis.
http://purl.obolibrary.org/obo/MONDO_0024320	inner ear neoplasm	http://purl.obolibrary.org/obo/MONDO_0021233	ear neoplasm		A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.
http://purl.obolibrary.org/obo/MONDO_0024337	urothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm		A neoplasm involving a urothelium.
http://purl.obolibrary.org/obo/MONDO_0024341	retinal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0021231	retina neoplasm		A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.
http://purl.obolibrary.org/obo/MONDO_0100053	anaphylaxis	http://purl.obolibrary.org/obo/MONDO_0000605	hypersensitivity reaction disease		An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.
http://purl.obolibrary.org/obo/MONDO_0100054	idiopathic anaphylaxis	http://purl.obolibrary.org/obo/MONDO_0100053	anaphylaxis		Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.
http://purl.obolibrary.org/obo/MONDO_0100056	exercise-induced anaphylaxis	http://purl.obolibrary.org/obo/MONDO_0100053	anaphylaxis		A rare disorder in which anaphylaxis occurs in association with physical activity.
http://purl.obolibrary.org/obo/MONDO_0100057	food-dependent exercise-induced anaphylaxis	http://purl.obolibrary.org/obo/MONDO_0100056	exercise-induced anaphylaxis		A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.
http://purl.obolibrary.org/obo/MONDO_0100068	SLC10A7-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.
http://purl.obolibrary.org/obo/MONDO_0100069	hearing impairment and infertile male syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.
http://purl.obolibrary.org/obo/MONDO_0100072	neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.
http://purl.obolibrary.org/obo/MONDO_0100073	methicillin-resistant staphylococcus aureus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005545	staphylococcus aureus infection		Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.
http://purl.obolibrary.org/obo/MONDO_0100074	norovirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005687	Caliciviridae infectious disease		Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.
http://purl.obolibrary.org/obo/MONDO_0100075	jaw fracture	http://purl.obolibrary.org/obo/MONDO_0005315	bone fracture		A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken.
http://purl.obolibrary.org/obo/IAO_8000001	base ontology module	http://purl.obolibrary.org/obo/IAO_8000000	ontology module		An ontology module that comprises only of asserted axioms local to the ontology, excludes import directives, and excludes axioms or declarations from external ontologies.
http://purl.obolibrary.org/obo/IAO_8000003	main release ontology module	http://purl.obolibrary.org/obo/IAO_8000000	ontology module		An ontology module that is intended to be the primary release product and the one consumed by the majority of tools.
http://purl.obolibrary.org/obo/IAO_8000004	bridge ontology module	http://purl.obolibrary.org/obo/IAO_8000000	ontology module		An ontology module that consists entirely of axioms that connect or bridge two distinct ontology modules. For example, the Uberon-to-ZFA bridge module.
http://purl.obolibrary.org/obo/IAO_8000007	curation subset ontology module	http://purl.obolibrary.org/obo/IAO_8000006	subset ontology module		A subset ontology that is intended as a whitelist for curators using the ontology. Such a subset will exclude classes that curators should not use for curation.
http://purl.obolibrary.org/obo/IAO_8000008	analysis subset ontology module	http://purl.obolibrary.org/obo/IAO_8000006	subset ontology module		An ontology module that is intended for usage in analysis or discovery applications.
http://purl.obolibrary.org/obo/IAO_8000013	reasoned ontology module	http://purl.obolibrary.org/obo/IAO_8000000	ontology module		An ontology module that contains axioms generated by a reasoner. The generated axioms are typically direct SubClassOf axioms, but other possibilities are available.
http://purl.obolibrary.org/obo/IAO_8000014	generated ontology module	http://purl.obolibrary.org/obo/IAO_8000000	ontology module		An ontology module that is automatically generated, for example via a SPARQL query or via template and a CSV.
http://purl.obolibrary.org/obo/IAO_8000015	template generated ontology module	http://purl.obolibrary.org/obo/IAO_8000014	generated ontology module		An ontology module that is automatically generated from a template specification and fillers for slots in that template.
http://purl.obolibrary.org/obo/IAO_8000018	obo basic subset ontology module	http://purl.obolibrary.org/obo/IAO_8000017	ontology module subsetted by expressivity		A subset ontology that is designed for basic applications to continue to make certain simplifying assumptions; many of these simplifying assumptions were based on the initial version of the Gene Ontology, and have become enshrined in many popular and useful tools such as term enrichment tools.

Examples of such assumptions include: traversing the ontology graph ignoring relationship types using a naive algorithm will not lead to cycles (i.e. the ontology is a DAG); every referenced term is declared in the ontology (i.e. there are no dangling clauses).

An ontology is OBO Basic if and only if it has the following characteristics:
DAG
Unidirectional
No Dangling Clauses
Fully Asserted
Fully Labeled
No equivalence axioms
Singly labeled edges
No qualifier lists
No disjointness axioms
No owl-axioms header
No imports
http://purl.obolibrary.org/obo/MONDO_0100083	hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	http://purl.obolibrary.org/obo/MONDO_0011071	hereditary thrombocytopenia and hematologic cancer predisposition syndrome		This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.
http://purl.obolibrary.org/obo/MONDO_0400000	small intestinal bacterial overgrowth	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.
http://purl.obolibrary.org/obo/MONDO_0400003	skeletal fluorosis	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.
http://purl.obolibrary.org/obo/MONDO_0100084	alpha-actinopathy	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.
http://purl.obolibrary.org/obo/CHEBI_145795	digoxin(1-)	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		An organic anion that is the conjugate base of digoxin resulting from the deprotonation of furanone moiety; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_145810	insulin	http://purl.obolibrary.org/obo/CHEBI_25905	peptide hormone		A peptide hormone which consists of two polypeptide chains, A- and B- chains which are linked together by disulfide bonds. The amino acid sequence of insulin varies across species and certain segments of the molecule are highly conserved. In most species, the A chain consists of 21 amino acids and the B chain consists of 30 amino acids. In mammals, insulin is synthesised in the pancreas within the β cells whereas in certain species of fish, the insulin-producing tissue is uniquely located in separate structures called Brockmann bodies.
http://purl.obolibrary.org/obo/MONDO_0027749	serpinopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Hereditary disease by a qualitative or quantitative deficiencies or overexpression and/or abnormal accumulation of SERPIN; SERPINs are members of the serpin (serine proteinase inhibitors) superfamily which includes proteins with serine protease inhibitor activity and some that do not exhibit this inhibitory activity against serine proteases.
http://purl.obolibrary.org/obo/CHEBI_149552	emetic	http://purl.obolibrary.org/obo/CHEBI_23888	drug		Any agent that induces nausea and vomiting.
http://purl.obolibrary.org/obo/CL_0011019	mesothelial cell of epicardium	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		A mesothelial cell that is part of the epicardium.
http://purl.obolibrary.org/obo/CL_0011021	fibroblast of upper back skin	http://purl.obolibrary.org/obo/CL_0011022	fibroblast of skin of back		A fibroblast that is part of upper back skin.
http://purl.obolibrary.org/obo/CL_0011022	fibroblast of skin of back	http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast		A fibroblast that is part of skin of back.
http://purl.obolibrary.org/obo/CL_0019001	tracheobronchial serous cell	http://purl.obolibrary.org/obo/CL_0000313	serous secreting cell		Any serous secreting cell that is part of the tracheobronchial epithelium.
http://purl.obolibrary.org/obo/CL_0019002	tracheobronchial chondrocyte	http://purl.obolibrary.org/obo/CL_0000138	chondrocyte		Any chondrocyte that is part of the tracheobronchial tree.
http://purl.obolibrary.org/obo/CL_0019003	tracheobronchial goblet cell	http://purl.obolibrary.org/obo/CL_0002370	respiratory tract goblet cell		Any goblet cell that is part of the tracheobronchial epithelium.
http://purl.obolibrary.org/obo/MONDO_0100137	telomere syndrome	http://purl.obolibrary.org/obo/MONDO_0019303	premature aging syndrome		Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.
http://purl.obolibrary.org/obo/MONDO_0100150	RYR1-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.
http://purl.obolibrary.org/obo/MONDO_0100146	ATP6AP2-related disorder	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.
http://purl.obolibrary.org/obo/MONDO_0100239	inherited hypertrophic pyloric stenosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of hypertrophic pyloric stenosis that is inherited.
http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of thrombocytopenia that is inherited.
http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing migraines with or without aura.
http://purl.obolibrary.org/obo/HP_0033747	Abnormal exteroceptive sensation	http://purl.obolibrary.org/obo/HP_0003474	Somatic sensory dysfunction		A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.
http://purl.obolibrary.org/obo/HP_0033835	Abnormal renal vascular morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		Anomalous structure of a blood vessel in the kidney.
http://purl.obolibrary.org/obo/HP_4000059	Abnormal lung development	http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology		A structural defect associated with abnormal development of the lung.
http://purl.obolibrary.org/obo/MONDO_0031421	Olmsted syndrome	http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma		A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
http://purl.obolibrary.org/obo/MONDO_0100337	SEC61A1 deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.
http://purl.obolibrary.org/obo/MONDO_0030837	neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.
http://purl.obolibrary.org/obo/MONDO_0030859	COACH syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100349	COACH syndrome		Any COACH syndrome in which the cause of the disease is a mutation in the CC2D2A gene.
http://purl.obolibrary.org/obo/MONDO_0030860	neuronopathy, distal hereditary motor, type 5C	http://purl.obolibrary.org/obo/MONDO_0100350	neuronopathy, distal hereditary motor, type 5		Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.
http://purl.obolibrary.org/obo/MONDO_0030898	immunodeficiency 76	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.
http://purl.obolibrary.org/obo/MONDO_0030937	mitochondrial complex 2 deficiency, nuclear type 3	http://purl.obolibrary.org/obo/MONDO_0031230	mitochondrial complex II deficiency, nuclear type		A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations.
http://purl.obolibrary.org/obo/MONDO_0030974	mitochondrial complex 2 deficiency, nuclear type 4	http://purl.obolibrary.org/obo/MONDO_0031230	mitochondrial complex II deficiency, nuclear type		An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms.
http://purl.obolibrary.org/obo/MONDO_0031332	Glanzmann thrombasthenia 1	http://purl.obolibrary.org/obo/MONDO_0100326	Glanzmann thrombasthenia		A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia
http://purl.obolibrary.org/obo/MONDO_0031446	hypercholanemia, familial 1	http://purl.obolibrary.org/obo/MONDO_0100327	hypercholanemia, familial		A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
http://purl.obolibrary.org/obo/MONDO_0100290	colon serrated polyposis	http://purl.obolibrary.org/obo/MONDO_0021400	polyp of colon		The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.
http://purl.obolibrary.org/obo/MONDO_0100291	early T cell progenitor acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0004963	T-cell acute lymphoblastic leukemia		T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.
http://purl.obolibrary.org/obo/MONDO_0100294	mitochondrial complex II deficiency, nuclear type 1	http://purl.obolibrary.org/obo/MONDO_0031230	mitochondrial complex II deficiency, nuclear type		Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.
http://purl.obolibrary.org/obo/MONDO_0100296	Olmsted syndrome 1	http://purl.obolibrary.org/obo/MONDO_0031421	Olmsted syndrome		Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.
http://purl.obolibrary.org/obo/MONDO_0100312	vestibular ataxia	http://purl.obolibrary.org/obo/MONDO_0100311	sensory ataxia		Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction.
http://purl.obolibrary.org/obo/MONDO_0100319	COVID-19–associated multisystem inflammatory syndrome in adults	http://purl.obolibrary.org/obo/MONDO_0035375	multisystem inflammatory syndrome in children and adults		A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).
http://purl.obolibrary.org/obo/MONDO_0100325	odontochondrodysplasia 1	http://purl.obolibrary.org/obo/MONDO_0031169	odontochondrodysplasia		A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.
http://purl.obolibrary.org/obo/MONDO_0100340	Friedreich ataxia 1	http://purl.obolibrary.org/obo/MONDO_0100339	Friedreich ataxia		Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.
http://purl.obolibrary.org/obo/MONDO_0100348	neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.
http://purl.obolibrary.org/obo/MONDO_0400006	botryomycosis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.
http://purl.obolibrary.org/obo/MONDO_0500000	episodic angioedema with eosinophilia	http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome		A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.
http://purl.obolibrary.org/obo/MONDO_0600001	glutaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0017352	disorder of glutamine metabolism		Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.
http://purl.obolibrary.org/obo/MONDO_0600005	venom allergy	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		An allergic disease involving venom.
http://purl.obolibrary.org/obo/MONDO_0600008	cytokine release syndrome	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.
http://purl.obolibrary.org/obo/MONDO_0600009	severe hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0100609	ALPL-related autosomal recessive hypophosphatasia		A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.
http://purl.obolibrary.org/obo/MONDO_0600010	moderate hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia		A rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. It can inherited via either autosomal dominant or autosomal recessive inheritance.
http://purl.obolibrary.org/obo/MONDO_0600011	mild hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0100608	ALPL-related autosomal dominant hypophosphatasia		The most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. It is autosomal dominantly inherited.
http://purl.obolibrary.org/obo/MONDO_0700084	myopathy caused by variation in GMPPB	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Any myopathy in which the cause of the disease is a variation in the GMPPB gene.
http://purl.obolibrary.org/obo/MONDO_0100369	iatrogenic or non-iatrogenic	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		A iatrogenic or non-iatrogenic form of a disease.
http://purl.obolibrary.org/obo/MONDO_0100427	non-iatrogenic	http://purl.obolibrary.org/obo/MONDO_0100369	iatrogenic or non-iatrogenic		A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient.
http://purl.obolibrary.org/obo/MONDO_0100428	progressive bulbar palsy of childhood	http://purl.obolibrary.org/obo/MONDO_0008890	progressive bulbar palsy		A progressive bulbar palsy of childhood that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0100430	fibrotic liver disease	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.
http://purl.obolibrary.org/obo/MONDO_0100432	FNIP1-associated syndrome	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.
http://purl.obolibrary.org/obo/MONDO_0100433	ACTB-associated syndromic thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0018795	syndromic constitutional thrombocytopenia		A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.
http://purl.obolibrary.org/obo/MONDO_0100436	cataract 2, multiple types	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		Any cataract in which the cause of the disease is a mutation in the CRYGC gene.
http://purl.obolibrary.org/obo/MONDO_0100439	glycogen storage disease IXa2	http://purl.obolibrary.org/obo/MONDO_0700291	glycogen storage disease IX		Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.
http://purl.obolibrary.org/obo/MONDO_0100456	neonatal encephalopathy with non-epileptic myoclonus	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.
http://purl.obolibrary.org/obo/MONDO_0100457	achalasia, familial esophageal	http://purl.obolibrary.org/obo/MONDO_0008698	achalasia		An instance of achalsia that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0100462	short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	http://purl.obolibrary.org/obo/MONDO_1060149	ACAN-related short stature spectrum		A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
http://purl.obolibrary.org/obo/MONDO_0100466	butterfly-shaped pigment dystrophy	http://purl.obolibrary.org/obo/MONDO_0018973	patterned dystrophy of the retinal pigment epithelium		A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
http://purl.obolibrary.org/obo/MONDO_0100469	anosmia, isolated congenital, X-linked	http://purl.obolibrary.org/obo/MONDO_0010528	anosmia		X-linked form of anosmia, isolated congenital.
http://purl.obolibrary.org/obo/MONDO_0700107	chromosome 19q13.11 deletion syndrome, distal	http://purl.obolibrary.org/obo/MONDO_0013090	chromosome 19q13.11 deletion syndrome		Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.
http://purl.obolibrary.org/obo/MONDO_8000006	WHIM syndrome 1	http://purl.obolibrary.org/obo/MONDO_0023880	WHIM syndrome		A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
http://purl.obolibrary.org/obo/MONDO_8000008	Martsolf syndrome 1	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
http://purl.obolibrary.org/obo/MONDO_8000011	visceral neuropathy, familial, 1, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0023961	visceral neuropathy, familial		A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
http://purl.obolibrary.org/obo/MONDO_8000014	familial antiphospholipid syndrome	http://purl.obolibrary.org/obo/MONDO_8000010	antiphospholipid syndrome		Autosomal dominant form of antiphospholipid syndrome.
http://purl.obolibrary.org/obo/MONDO_8000015	46,XY sex reversal 11	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.
http://purl.obolibrary.org/obo/MONDO_8000018	benign paroxysmal positional vertigo	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.
http://purl.obolibrary.org/obo/MONDO_0100502	NTHL1-deficiency tumor predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.
http://purl.obolibrary.org/obo/MONDO_0100504	fungal infection of the toenail	http://purl.obolibrary.org/obo/MONDO_0024487	nail infection		A fungal infectious disease that involves the toenail.
http://purl.obolibrary.org/obo/MONDO_0100505	food dermatitis	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		Dermatitis caused by an allergic reaction to ingested food.
http://purl.obolibrary.org/obo/MONDO_0100506	Cockayne spectrum with or without cerebrooculofacioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0016006	Cockayne syndrome		An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.
http://purl.obolibrary.org/obo/MONDO_0700082	Robertsonian translocation Down syndrome	http://purl.obolibrary.org/obo/MONDO_0700128	translocation Down syndrome		Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.
http://purl.obolibrary.org/obo/MONDO_0700083	reciprocal translocation down syndrome	http://purl.obolibrary.org/obo/MONDO_0700128	translocation Down syndrome		Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.
http://purl.obolibrary.org/obo/MONDO_0700093	balanced Robertsonian translocation Down syndrome	http://purl.obolibrary.org/obo/MONDO_0700082	Robertsonian translocation Down syndrome		Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred without loss of chromosomal material between the two nonhomologous chromosomes.
http://purl.obolibrary.org/obo/MONDO_0700094	unbalanced Robertsonian translocation Down syndrome	http://purl.obolibrary.org/obo/MONDO_0700082	Robertsonian translocation Down syndrome		Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occurred with loss of chromosomal material between the two nonhomologous chromosomes.
http://purl.obolibrary.org/obo/MONDO_0800046	thyroid hormone metabolism, abnormal 1	http://purl.obolibrary.org/obo/MONDO_0031432	thyroid hormone metabolism, abnormal		A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
http://purl.obolibrary.org/obo/MONDO_0800047	macrothrombocytopenia, isolated, 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0031447	macrothrombocytopenia, isolated		Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.
http://purl.obolibrary.org/obo/MONDO_0800104	immunodeficiency 105	http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency		Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.
http://purl.obolibrary.org/obo/MONDO_0800105	catatonia	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		A psychiatric disorder featuring stupor, posturing, and echophenomena.
http://purl.obolibrary.org/obo/MONDO_0800106	disruptive behavior disorder	http://purl.obolibrary.org/obo/MONDO_0005084	mental disorder		A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan.
http://purl.obolibrary.org/obo/MONDO_0100048	graft-versus-host disease, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing graft vs. host disease.
http://purl.obolibrary.org/obo/MONDO_0700112	heterotaxy, visceral, 5, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.
http://purl.obolibrary.org/obo/MONDO_0700132	melanoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Melanoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700133	adenoma, non-human	http://purl.obolibrary.org/obo/MONDO_1013729	epithelial neoplasm, non-human animal		Adenoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700134	bovine neoplasm	http://purl.obolibrary.org/obo/MONDO_0024913	cattle disease		A neoplasm that occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_0700136	bovine protoporphyria	http://purl.obolibrary.org/obo/MONDO_0700134	bovine neoplasm		A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle.
http://purl.obolibrary.org/obo/MONDO_0700137	bovine lymphosarcoma	http://purl.obolibrary.org/obo/MONDO_0700134	bovine neoplasm		Lymphosarcoma that occurs in a cow.
http://purl.obolibrary.org/obo/MONDO_0700138	bovine rectal myxoma	http://purl.obolibrary.org/obo/MONDO_0700134	bovine neoplasm		A myxoma that occurs in the rectum of a cow.
http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm	http://purl.obolibrary.org/obo/MONDO_0024919	dog disease		A neoplasm that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_0700140	canine osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0700149	canine sarcoma		An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas.
http://purl.obolibrary.org/obo/MONDO_0700141	canine melanoma	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma.
http://purl.obolibrary.org/obo/MONDO_0700142	canine hemangiosarcoma	http://purl.obolibrary.org/obo/MONDO_0700156	canine soft tissue sarcoma		Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.
http://purl.obolibrary.org/obo/MONDO_0700143	canine mammary carcinoma	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		Mammary carcinoma occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700144	canine leukemia	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.
http://purl.obolibrary.org/obo/MONDO_0700145	canine lymphoma	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites.
http://purl.obolibrary.org/obo/MONDO_0700146	canine prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_1010961	prostate cancer, dog		A malignant epithelial neoplasm arising from the prostate gland of a dog.
http://purl.obolibrary.org/obo/MONDO_0700147	canine histiocytic sarcoma	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
http://purl.obolibrary.org/obo/MONDO_0700148	canine transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		A malignant neoplasm that affects dogs, arising from transitional epithelium.
http://purl.obolibrary.org/obo/MONDO_0700149	canine sarcoma	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.
http://purl.obolibrary.org/obo/MONDO_0700150	canine mastocytoma	http://purl.obolibrary.org/obo/MONDO_1011555	mast cell tumor, dog		A tumor composed of mast cells that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_0700151	canine glioma	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		A brain or spinal cord tumor arising from glial cells that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_0700152	canine hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_1013124	liver cancer, non-human animal		A malignant tumor arising from hepatocytes that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_0700153	canine lung adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_1013144	lung neoplasm, non-human animal		A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0700154	canine rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0700156	canine soft tissue sarcoma		A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_0700155	canine thyroid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_1013295	thyroid gland carcinoma, non-human animal		Adeonocarcinoma of the thyroid gland occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700156	canine soft tissue sarcoma	http://purl.obolibrary.org/obo/MONDO_0700149	canine sarcoma		Soft tissue sarcoma occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700157	canine oral squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_1013268	squamous cell carcinoma, non-human animal		Oral squamous cell carcinoma that occurs in a dog.
http://purl.obolibrary.org/obo/MONDO_0700158	canine pancreatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		Pancreatic carcinoma that occurs in a dog.
http://purl.obolibrary.org/obo/MONDO_0700159	canine acanthomatous epulis	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		A tumor arising from odontogenic epithelium and occurs in a dog.
http://purl.obolibrary.org/obo/MONDO_0700160	canine mammary adenoma	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		An adenoma arising from the mammary gland of a dog.
http://purl.obolibrary.org/obo/MONDO_0700161	canine gastrointestinal stromal tumor, KIT-related, dog	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		A gastrointestinal stromal tumor occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700162	canine granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0700151	canine glioma		A granular cell tumor occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700163	canine Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Langerhans cell histiocytosis occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700164	canine nephroblastoma	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		A nephroblastoma occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700165	canine thyroid gland medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0700155	canine thyroid adenocarcinoma		Thyroid gland medullary carcinoma occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700166	canine transmissible venereal tumor	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		A sexually transmitted tumor arising from histiocytes and occurring in dogs.
http://purl.obolibrary.org/obo/MONDO_0700167	canine sebaceous gland epithelioma	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		Sebaceous epithelioma occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700168	canine oral melanoma	http://purl.obolibrary.org/obo/MONDO_0700141	canine melanoma		A melanoma that affects the lip and/or oral cavity of a dog.
http://purl.obolibrary.org/obo/MONDO_0700169	canine cutaneous t-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0700145	canine lymphoma		Cutaneous T-cell lymphoma occurring in a dog.
http://purl.obolibrary.org/obo/MONDO_0700171	horse melanoma	http://purl.obolibrary.org/obo/MONDO_0700170	equine neoplasm		Melanoma that occurs in a horse.
http://purl.obolibrary.org/obo/MONDO_0700172	horse lymphoma	http://purl.obolibrary.org/obo/MONDO_0700170	equine neoplasm		Lymphoma that occurs in a horse.
http://purl.obolibrary.org/obo/MONDO_0700173	horse sarcoid	http://purl.obolibrary.org/obo/MONDO_0700170	equine neoplasm		A fibroblastic tumor that occurs in the skin of a horse.
http://purl.obolibrary.org/obo/MONDO_0700174	horse transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0700170	equine neoplasm		Transitional cell carcinoma that occurs in a horse.
http://purl.obolibrary.org/obo/MONDO_0700176	feline lymphoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus.
http://purl.obolibrary.org/obo/MONDO_0700177	feline mammary carcinoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Mammary carcinoma occurring in a cat.
http://purl.obolibrary.org/obo/MONDO_0700178	feline oral squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Oral squamous cell carcinoma that occurs in a cat.
http://purl.obolibrary.org/obo/MONDO_0700179	feline osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Osteosarcoma that occurs in a cat.
http://purl.obolibrary.org/obo/MONDO_0700180	feline bronchioloalveolar lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Bronchioloalveolar lung carcinoma that occurs in a cat.
http://purl.obolibrary.org/obo/MONDO_0700181	feline fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Fibrosarcoma that occurs in a cat.
http://purl.obolibrary.org/obo/MONDO_0700182	feline erythroleukemia	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Erythroleukemia that occurs in a cat.
http://purl.obolibrary.org/obo/MONDO_0700183	feline reticulum cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Reticulum cell sarcoma that occurs in a cat.
http://purl.obolibrary.org/obo/MONDO_0700184	feline large granular lymphocyte lymphoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat.
http://purl.obolibrary.org/obo/MONDO_0700185	feline melanoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat.
http://purl.obolibrary.org/obo/MONDO_0700186	feline histiocytic sarcoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Histiocytic sarcoma occurring in a cat.
http://purl.obolibrary.org/obo/MONDO_0700187	feline progressive histiocytosis	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis.
http://purl.obolibrary.org/obo/MONDO_0700188	feline synovial cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm		Synovial cell sarcoma occurring in a cat.
http://purl.obolibrary.org/obo/MONDO_0700189	chicken neoplasm	http://purl.obolibrary.org/obo/MONDO_0025113	poultry disease		A neoplasm that occurs in a chicken.
http://purl.obolibrary.org/obo/MONDO_0700190	chicken bursal lymphoma	http://purl.obolibrary.org/obo/MONDO_0700194	chicken lymphoma		A malignant lymphoma that arises in the bursa of Fabricius in a chicken.
http://purl.obolibrary.org/obo/MONDO_0700191	chicken fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal		Fibrosarcoma that occurs in a chicken.
http://purl.obolibrary.org/obo/MONDO_0700192	chicken hepatoma	http://purl.obolibrary.org/obo/MONDO_0700189	chicken neoplasm		Hepatoma that occurs in a chicken.
http://purl.obolibrary.org/obo/MONDO_0700193	chicken monocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0700189	chicken neoplasm		Monocytic leukemia that occurs in a chicken.
http://purl.obolibrary.org/obo/MONDO_0700194	chicken lymphoma	http://purl.obolibrary.org/obo/MONDO_0700189	chicken neoplasm		Lymphoma that occurs in a chicken.
http://purl.obolibrary.org/obo/MONDO_0700195	rous sarcoma	http://purl.obolibrary.org/obo/MONDO_0700191	chicken fibrosarcoma		A fibrosarcoma, originally observed in a Plymouth Rock hen, now thought to be an expression of infection by certain viruses of the avian leukosis-sarcoma complex in the family
http://purl.obolibrary.org/obo/MONDO_0700196	fish melanoma	http://purl.obolibrary.org/obo/MONDO_0700132	melanoma, non-human animal		Melanoma that occurs in a fish.
http://purl.obolibrary.org/obo/MONDO_0700197	porcine leukemia	http://purl.obolibrary.org/obo/MONDO_0024990	swine disease		Leukemia that occurs in a pig.
http://purl.obolibrary.org/obo/MONDO_0700198	porcine lymphoma	http://purl.obolibrary.org/obo/MONDO_0024990	swine disease		Lymphoma that occurs in a pig.
http://purl.obolibrary.org/obo/MONDO_0700199	sheep lung adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024985	sheep disease		Adenocarcinoma arising from the lung of a sheep.
http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes "foamy'' aspect.
http://purl.obolibrary.org/obo/MONDO_0700224	PDE6A-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the PDE6A gene.
http://purl.obolibrary.org/obo/MONDO_0700229	MAK-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the MAK gene.
http://purl.obolibrary.org/obo/MONDO_0700231	TSPAN12-related exudative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0100484	TSPAN12-related vitreoretinopathy		Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene.
http://purl.obolibrary.org/obo/MONDO_0700235	RD3-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the RD3 gene.
http://purl.obolibrary.org/obo/MONDO_0700239	BEST1-related recessive retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by bi-allelic variants in the BEST1 gene.
http://purl.obolibrary.org/obo/MONDO_0700241	IMPG2-related recessive retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by bi-allelic variants in the IMPG2 gene.
http://purl.obolibrary.org/obo/MONDO_0700244	CACNA2D4-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by variants in the CACNA2D4 gene.
http://purl.obolibrary.org/obo/MONDO_0800470	TUBB4A-related neurologic disorder	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.
http://purl.obolibrary.org/obo/MONDO_0100534	SMARCB1-deficient kidney medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0006260	kidney medullary carcinoma		A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.
http://purl.obolibrary.org/obo/MONDO_1030015	acquired porphyria	http://purl.obolibrary.org/obo/MONDO_0037939	porphyria		A porphyria disorder that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_1040036	IMPG1-related dominant retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by an autosomal dominant variant in the IMPG1 gene.
http://purl.obolibrary.org/obo/MONDO_1040051	IMPDH1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a variant in the IMPDH1 gene.
http://purl.obolibrary.org/obo/MONDO_1040055	PRPH2-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		Any retinopathy caused by a variant or variants in the PRPH2 gene.
http://purl.obolibrary.org/obo/MONDO_0100586	B3GALT6-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6.
http://purl.obolibrary.org/obo/MONDO_0100582	TOR1AIP1-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100604	TOR1AIP1-related nuclear envelopathy		A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse.
http://purl.obolibrary.org/obo/MONDO_0700339	DNM1-encephalopathy and neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A developmental and epileptic encephalopathy in which the cause of the disease is a variation in the DNM1 gene.
http://purl.obolibrary.org/obo/MONDO_1010132	AARS1-related leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Any leukoencephalopathy in which the cause of the disease is a variant in the AARS1 gene.
http://purl.obolibrary.org/obo/MONDO_0100597	intellectual disability, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A broad category of disorders characterized by an impairment to the intelligence an individual possesses, caused by an autosomal recessive genetic disorder.
http://purl.obolibrary.org/obo/MONDO_0976133	myopathy, myofibrillar, 13, with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy		A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.
http://purl.obolibrary.org/obo/MONDO_0100631	sleep-related hypermotor epilepsy	http://purl.obolibrary.org/obo/MONDO_0800492	variable-age onset focal epilepsy syndrome		A focal epilepsy syndrome with characteristic brief motor seizures occurring from sleep. This syndrome was previously known as nocturnal frontal lobe epilepsy, and (when familial) autosomal dominant nocturnal frontal lobe epilepsy. It has both genetic and structural causes. Patients may have hyperkinetic seizures, or seizures with asymmetric dystonic/tonic motor features. The term sleep-related hyperkinetic epilepsy is to be used when patients have hyperkinetic seizures alone.
http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Any cardiac rhythm disorder with a monogenic etiology that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, Brugada syndrome, long QT syndrome, short QT syndrome, tachycardia with fibrillation.
http://purl.obolibrary.org/obo/MONDO_1010181	SCN5A-related cardiac rhythm disorder	http://purl.obolibrary.org/obo/MONDO_1010180	cardiogenetic rhythm disorder		A heterogeneous collection of cardiac rhythm disorders caused by genetic variations in the SCN5A gene with autosomal dominant inheritance. Affected individuals are commonly reported to have unremarkable cardiac morphology and at least one cardiac rhythm phenotype that includes, but is not limited to, atrial fibrillation, sick sinus syndrome, progressive cardiac conduction disease, ventricular fibrillation, long QT syndrome, and Brugada syndrome.
http://purl.obolibrary.org/obo/MONDO_0700382	HMBS-related hepatic porphyria	http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria		A hepatic porphyria caused by monoallelic and biallelic variants in HMBS and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants predispose to acute/episodic attacks in adulthood with abdominal pain, neuropathy, and neuropsychiatric symptoms (women are more often affected) without cutaneous manifestations. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Biallelic variants cause severe disease in childhood presenting with neurological issues including developmental abnormalities, ataxia, dysarthria, leukoencephalopathy, cataracts and optic nerve hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0700383	PPOX-related hepatic porphyria	http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria		A hepatic porphyria (or variegate porphyria) caused by monoallelic and biallelic variants in PPOX, presenting as a spectrum of disease (a semidominant inheritance pattern). Cases caused by monoallelic variants may have onset during adolescence or adulthood and are episodic characterized by abdominal pain, constipation, vomiting, muscular paralysis, and psychosis. Other symptoms may include abnormal blistering of the skin, cutaneous photosensitivity, and neuropathy. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases caused by biallelic variants, which reduce enzyme activity to <25% of normal, typically result in child or adolescent onset with greater severity. Symptoms for this extend to brachydactyly, clinodactyly, intellectual disability, nystagmus, myopia, growth retardation, and hyperpigmentation.
http://purl.obolibrary.org/obo/MONDO_0700384	porphyria, acute intermittent, nonerythroid variant	http://purl.obolibrary.org/obo/MONDO_0700382	HMBS-related hepatic porphyria		A HMBS-related hepatic porphyria subtype caused by variants in HMBS exon 1, which is not expressed in erythrocytes, causing HMBS activity in erythrocytes to be at a normal level. The housekeeping promoter produces the HMBS transcript containing exons 1 and 3-15. In contrast, erythrocytes use an erythroid-specific promoter downstream of the housekeeping HMBS promoter to produce a transcript that contains only exons 2-15. Therefore deleterious variants occurring within exon 1 or affecting the splicing of exon 1 to exon 3 do not impact the erythrocyte isozyme, but do impact the more broadly expressed housekeeping isozyme.
http://purl.obolibrary.org/obo/MONDO_0979242	short-rib thoracic dysplasia 22 without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		Any Jeune syndrome in which the cause of the disease is a mutation in the FGF4 gene, characterized by a small thorax with short ribs, resulting in pulmonary hypoplasia and respiratory insufficiency.
http://purl.obolibrary.org/obo/CL_0008019	mesenchymal cell	http://purl.obolibrary.org/obo/CL_0000219	motile cell		A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration.
http://purl.obolibrary.org/obo/FOODON_03400289	USA agency food product type	http://purl.obolibrary.org/obo/FOODON_03400361	agency food product type		Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995]
http://purl.obolibrary.org/obo/FOODON_03400352	international agency food product type	http://purl.obolibrary.org/obo/FOODON_03400361	agency food product type		Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008.
http://purl.obolibrary.org/obo/FOODON_03400643	Codex Alimentarius classification of food and feed commodities	http://purl.obolibrary.org/obo/FOODON_03400352	international agency food product type		Codex Alimentarius, Volume 2 - 1993, Section 2:  Pesticide Residues in Food.

The Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989).

The Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues.

The Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set.
http://purl.obolibrary.org/obo/FOODON_03400652	04  nuts and seeds (ccpr)	http://purl.obolibrary.org/obo/FOODON_03400644	a.  primary food commodities of plant origin (ccpr)		TYPE 04  -  NUTS AND SEEDS

Nuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated.

The mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed.
http://purl.obolibrary.org/obo/FOODON_03400685	022  tree nuts (tn) (ccpr)	http://purl.obolibrary.org/obo/FOODON_03400652	04  nuts and seeds (ccpr)		Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed.
The seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit.
The edible portion of the nut is consumed in succulent, dried or processed forms.
http://purl.obolibrary.org/obo/FOODON_03401270	U.S. code of federal regulations, title 21 food product type	http://purl.obolibrary.org/obo/FOODON_03400289	USA agency food product type		Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL.
http://purl.obolibrary.org/obo/FOODON_03411081	penaeid shrimp family	http://purl.obolibrary.org/obo/FOODON_03411237	shrimp		Penaeidae is a family of marine crustacean in the suborder *Dendrobranchiata*, which are often referred to as penaeid shrimp or penaeid prawn. It contains many species of economic importance, such as the tiger prawn, whiteleg shrimp, Atlantic white shrimp and Indian prawn. Many prawns are the subject of commercial fishery, and farming, both in marine settings, and in freshwater farms. [https://en.wikipedia.org/wiki/Penaeidae]
http://purl.obolibrary.org/obo/FOODON_03411142	aquatic invertebrate animal (excluding shellfish)	http://purl.obolibrary.org/obo/FOODON_00002581	aquatic invertebrate		Aquatic animals other than fish and shellfish
http://purl.obolibrary.org/obo/FOODON_03411328	goat	http://purl.obolibrary.org/obo/FOODON_02021055	goat material		A whole goat.
http://purl.obolibrary.org/obo/FOODON_03411998	decapod	http://purl.obolibrary.org/obo/FOODON_03411374	crustacean		The Decapoda or decapods (literally "ten-footed") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda]
http://purl.obolibrary.org/obo/FOODON_03412115	echinoderm	http://purl.obolibrary.org/obo/FOODON_03411433	shellfish species		Echinoderm is the common name given to any member of the phylum *Echinodermata* of marine animals. The adults are recognizable by their (usually five-point) radial symmetry, and include such well-known animals as sea stars, sea urchins, sand dollars, and sea cucumbers, as well as the sea lilies or "stone lilies". [https://en.wikipedia.org/wiki/Echinoderm]
http://purl.obolibrary.org/obo/FOODON_03412215	mud crab family	http://purl.obolibrary.org/obo/FOODON_02021446	crab		Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab]
http://purl.obolibrary.org/obo/FOODON_03412409	coelenterate	http://purl.obolibrary.org/obo/FOODON_03411021	fish or lower water animal		Coelenterata is an obsolete term encompassing the animal phyla *Cnidaria* (coral animals, true jellies, sea anemones, sea pens, and their allies) and *Ctenophora* (comb jellies).  [https://en.wikipedia.org/wiki/Coelenterata]
http://purl.obolibrary.org/obo/FOODON_03412702	kid (goat)	http://purl.obolibrary.org/obo/NCBITaxon_9925	Capra hircus		A young goat
http://purl.obolibrary.org/obo/FOODON_03414381	bovid	http://purl.obolibrary.org/obo/FOODON_03411134	mammal		A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin.

The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle.
http://purl.obolibrary.org/obo/FOODON_03414466	tunicate	http://purl.obolibrary.org/obo/FOODON_00002581	aquatic invertebrate		Tunicates, previously known as *Urochordata* or urochordates, are members of the *Tunicata*, a subphylum of the phylum *Chordata*. They are marine filter feeders with a saclike morphology. In their respiration and feeding they take in water through an incurrent (or inhalant) siphon and expel the filtered water through an excurrent (or exhalant) siphon. Most adult tunicates are sessile and attached to rocks or similarly suitable surfaces on the ocean floor; others such as salps, doliolids and pyrosomes swim in the pelagic zone as adults. Various species are commonly known as sea squirts or sea pork.
http://purl.obolibrary.org/obo/FOODON_03420116	organism material	http://purl.obolibrary.org/obo/BFO_0000040	material entity		Material which is distinguished primarily by the organism(s) it derives from.
http://purl.obolibrary.org/obo/FOODON_03420293	fruit core (anatomical part)	http://purl.obolibrary.org/obo/FOODON_03420110	peel, core or seed		The hard, central part of an apple, pear, etc., that contains the seeds (Source: Webster's)
http://purl.obolibrary.org/obo/FOODON_03420294	fruit peel (anatomical part)	http://purl.obolibrary.org/obo/FOODON_03420110	peel, core or seed		The rind or skin of fruit
http://purl.obolibrary.org/obo/FOODON_03420295	fruit seed (anatomical part)	http://purl.obolibrary.org/obo/FOODON_03420110	peel, core or seed		The part of a flowering plant that typically contains the embryo with its protective coat and stored food and that can develop into a new plant under the proper conditions; fertilised and mature ovule (Source: Webster's).  Seeds and fruits commonly called seeds include: grain, kernel, berry, ear, corn, nut. (Source: Webster's Thesaurus).
http://purl.obolibrary.org/obo/FOODON_03430113	food physical quality	http://purl.obolibrary.org/obo/FOODON_00002470	food material characteristic		The physical state of the food product (liquid, semiliquid, semisolid, or solid). Solid food products are further subdivided by shape or form. Terms are provided for products that have both liquid and solid components or that incorporate air or other gases. [FDA CFSAN 1995]
http://purl.obolibrary.org/obo/FOODON_03460111	food treatment process	http://purl.obolibrary.org/obo/FOODON_00002451	food transformation process		Used to specifically characterize a food product based on the treatment or processes applied to the product or any indexed ingredient. The processes include adding, substituting or removing components or modifying the food or component, e.g., through fermentation.
http://purl.obolibrary.org/obo/FOODON_03470107	food preservation process	http://purl.obolibrary.org/obo/FOODON_03460111	food treatment process		The methods contributing to the prevention or retardation of microbial, enzymatic or oxidative spoilage and thus to the extension of shelf life. Index all methods for which information is available, even if a corresponding descriptor has already been used in *H. TREATMENT APPLIED*. Preservation descriptors refer to the finished food as a whole with these exceptions: (1) if the components of a multi-component food, such as cream pie, are preservation by different methods, index all methods; (2)  if chemical preservatives are declared on the label, always index them even if it is known that the preservative was introduced through or is only present in a component or ingredient of the food; and (3) if the preservation method for an ingredient is declared on the label (such as brie cheese made from pasteurized milk) index it. Also use *INGREDIENT preservation by THERMAL PROCESSING* or *INGREDIENT preservation by IRRADIATION* when ingredients have been pasteurized, ultrapasteurized, sterilized or irradiated.
http://purl.obolibrary.org/obo/FOODON_03510136	food consumer group	http://purl.obolibrary.org/obo/BFO_0000040	material entity		A food consumer group is a class of organism based on their heterotrophic requirements or preferences.
http://purl.obolibrary.org/obo/HP_0030956	Abnormality of cardiovascular system electrophysiology	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		An anomaly of the electrical conduction physiology of the heart.
http://purl.obolibrary.org/obo/HP_0040286	Abnormal axial muscle morphology	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		A structural anomaly of the muscles of the trunk and head.
http://purl.obolibrary.org/obo/HP_0025427	Abnormal bronchus physiology	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		Any anomaly of the function of the bronchi.
http://purl.obolibrary.org/obo/HP_0025439	Pharyngitis	http://purl.obolibrary.org/obo/HP_0033151	Abnormal pharynx morphology		Inflammation (due to infection or irritation) of the pharynx.
http://purl.obolibrary.org/obo/HP_0025441	Achilles tendon calcification	http://purl.obolibrary.org/obo/HP_0005109	Abnormal Achilles tendon morphology		Ectopic deposition of calcium salts in the Achilles tendon.
http://purl.obolibrary.org/obo/HP_0025461	Abnormal cell morphology	http://purl.obolibrary.org/obo/HP_0025354	Abnormal cellular phenotype		Any anomaly of cell structure.
http://purl.obolibrary.org/obo/HP_0025463	Abnormality of redox activity	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.
http://purl.obolibrary.org/obo/HP_0025477	Periarticular calcification	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		Calcified deposits in soft tissue structures outside a joint.
http://purl.obolibrary.org/obo/HP_0025522	Elongated chordae tendinae of the mitral valve	http://purl.obolibrary.org/obo/HP_0025523	Abnormal morphology of the chordae tendinae of the mitral valve		Abnormal increased in length of the chordae tendinae of the mitral valve.
http://purl.obolibrary.org/obo/HP_0025538	Palmar edema	http://purl.obolibrary.org/obo/HP_0040211	Abnormal skin morphology of the palm		An abnormal accumulation of fluid beneath the skin on the palm of the hand.
http://purl.obolibrary.org/obo/HP_0025539	Abnormal B cell subset distribution	http://purl.obolibrary.org/obo/HP_0002846	Abnormal B cell morphology		Abnormal increase or decrease of any B cell subpopulation, measured as percentage of total CD19+ or CD20+ B cells in the blood, compared to a reference range for a given sex and age-group.
http://purl.obolibrary.org/obo/HP_0025540	Abnormal T cell subset distribution	http://purl.obolibrary.org/obo/HP_0002843	Abnormal T cell morphology		Abnormal increase or decrease of any T cell subpopulation, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group.
http://purl.obolibrary.org/obo/HP_0030969	Abnormal pulmonary vein physiology	http://purl.obolibrary.org/obo/HP_0011718	Abnormality of the pulmonary veins		An abnormality of the function of the pulmonary veins.
http://purl.obolibrary.org/obo/HP_0031058	Impairment of activities of daily living	http://purl.obolibrary.org/obo/HP_0025142	Constitutional symptom		Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.
http://purl.obolibrary.org/obo/HP_0031071	Abnormal endocrine morphology	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		Any anomaly of the structure of an organ ofthe endocrine system.
http://purl.obolibrary.org/obo/HP_0031072	Abnormal endocrine physiology	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		Any anomaly of the function of the endocrine system.
http://purl.obolibrary.org/obo/HP_0031073	Abnormal response to endocrine stimulation test	http://purl.obolibrary.org/obo/HP_0031072	Abnormal endocrine physiology		An anomalous response to a test that is designed to probe the function of the endocrine system.
http://purl.obolibrary.org/obo/HP_0410026	Abnormal periodontium morphology	http://purl.obolibrary.org/obo/HP_0000164	Abnormality of the dentition		Any abnormality of the periodontium.
http://purl.obolibrary.org/obo/HP_0500023	Shoulder muscle aplasia	http://purl.obolibrary.org/obo/HP_0001464	Aplasia/Hypoplasia involving the shoulder musculature		Absence of shoulder muscles.
http://purl.obolibrary.org/obo/HP_0500024	Aplasia of the musculature of the pelvis	http://purl.obolibrary.org/obo/HP_0001471	Aplasia/Hypoplasia of the musculature of the pelvis		Absence of the musculature of the pelvis.
http://purl.obolibrary.org/obo/HP_0500026	Hypoplasia of the musculature of the pelvis	http://purl.obolibrary.org/obo/HP_0001471	Aplasia/Hypoplasia of the musculature of the pelvis		Underdevelopment of the musculature of the pelvis.
http://purl.obolibrary.org/obo/HP_0500027	Aplastic colon	http://purl.obolibrary.org/obo/HP_0100811	Aplasia/Hypoplasia of the colon		Congenital absence of the colon
http://purl.obolibrary.org/obo/ENVO_01001048	sediment environment	http://purl.obolibrary.org/obo/ENVO_01000998	environmental system determined by a material		An environmental system which has its properties and dynamics determined by sediment.
http://purl.obolibrary.org/obo/ENVO_09200021	color of soil	http://purl.obolibrary.org/obo/PATO_0000014	color		The color of some soil.
http://purl.obolibrary.org/obo/MONDO_0021097	intraductal breast papilloma	http://purl.obolibrary.org/obo/MONDO_0002061	intraductal papillary breast neoplasm		A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.
http://purl.obolibrary.org/obo/MONDO_0021099	intraductal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021098	papillomatosis		A neoplastic process characterized by the presence of multiple intraductal papillomas.
http://purl.obolibrary.org/obo/MONDO_0021109	inverted urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0004041	urothelial papilloma		An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.
http://purl.obolibrary.org/obo/MONDO_0021110	sweat gland adenoma	http://purl.obolibrary.org/obo/MONDO_0021634	epithelial skin neoplasm		A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma.
http://purl.obolibrary.org/obo/MONDO_0021114	Bartholin gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm		A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm	http://purl.obolibrary.org/obo/MONDO_0020641	respiratory tract neoplasm		A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0021119	non-functioning endocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0002082	endocrine gland neoplasm		A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.
http://purl.obolibrary.org/obo/MONDO_0021120	functioning endocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0002082	endocrine gland neoplasm		A hormone producing endocrine neoplasm, associated with a hormonal syndrome.
http://purl.obolibrary.org/obo/MONDO_0021123	Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone	http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm		A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.
http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A disease that involves the dermis.
http://purl.obolibrary.org/obo/MONDO_0021163	kidney neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm		A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.
http://purl.obolibrary.org/obo/MONDO_0021165	Paget disease	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.
http://purl.obolibrary.org/obo/MONDO_0021168	hibernoma	http://purl.obolibrary.org/obo/MONDO_0005106	lipoma		A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.
http://purl.obolibrary.org/obo/MONDO_0021155	X-linked cone-rod dystrophy	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		X-linked form of cone-rod dystrophy.
http://purl.obolibrary.org/obo/MONDO_0021192	odontogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.
http://purl.obolibrary.org/obo/MONDO_0024387	benign ovarian sex cord-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0021657	ovarian sex cord-stromal tumor		A sex cord-stromal tumor arising from the ovary, without metastatic potential.
http://purl.obolibrary.org/obo/MONDO_0024468	anterior pituitary gland disorder	http://purl.obolibrary.org/obo/MONDO_0003381	pituitary gland disorder		A disease that involves the adenohypophysis.
http://purl.obolibrary.org/obo/MONDO_0024483	urothelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	hyperplasia		Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003
http://purl.obolibrary.org/obo/MONDO_0024502	gallbladder neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021253	gallbladder neoplasm		A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/MONDO_0024571	AIDS-related disorder	http://purl.obolibrary.org/obo/MONDO_0024572	immunodeficiency-related disorder		A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.
http://purl.obolibrary.org/obo/MONDO_0024501	appendix neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0002882	colon neuroendocrine neoplasm		A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/HP_0032016	Abnormal sputum	http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology		Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.
http://purl.obolibrary.org/obo/HP_0020064	Abnormal total eosinophil count	http://purl.obolibrary.org/obo/HP_0032309	Abnormal granulocyte count		Abnormal increase or decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.
http://purl.obolibrary.org/obo/HP_0020129	Abnormal urine protein level	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		Any deviation of the concentration of one or more proteins in the urine.
http://purl.obolibrary.org/obo/ECTO_1000000	exposure to environmental condition	http://purl.obolibrary.org/obo/ECTO_0010003	exposure to environmental physical object quality		A exposure event involving the interaction of an exposure receptor to the condition of environmental condition.
http://purl.obolibrary.org/obo/ECTO_2000000	exposure to medical action	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		An exposure to medical action.
http://purl.obolibrary.org/obo/ECTO_2000003	exposure to blood glucose regulator therapy	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to blood glucose regulator therapy.
http://purl.obolibrary.org/obo/ECTO_2000004	exposure to theraputic insulin treatment	http://purl.obolibrary.org/obo/ECTO_2000035	exposure to glycemic agents		An exposure to insulin treatment.
http://purl.obolibrary.org/obo/ECTO_2000007	exposure to platelet aggregation inhibitors	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to platelet aggregation inhibitor therapy.
http://purl.obolibrary.org/obo/ECTO_2000008	exposure to antiarrythmic agents	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to antiarrythmic agent therapy.
http://purl.obolibrary.org/obo/ECTO_2000011	exposure to NSAIDs	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to NSAID therapy.
http://purl.obolibrary.org/obo/ECTO_2000013	exposure to theraputic diuretics	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to diuretic agent therapy.
http://purl.obolibrary.org/obo/ECTO_2000015	exposure to corticosteroid therapy	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to corticosteroid agent therapy.
http://purl.obolibrary.org/obo/ECTO_2000017	exposure to antidepressants	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to antidepressant agent therapy.
http://purl.obolibrary.org/obo/ECTO_2000021	exposure to drugs to treat Parkinsons	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to antiparkinson agent therapy.
http://purl.obolibrary.org/obo/ECTO_2000027	exposure to anticoagulants	http://purl.obolibrary.org/obo/ECTO_2000057	exposure to pharmacotherapy		An exposure to anticoagulant agent therapy.
http://purl.obolibrary.org/obo/ECTO_2000035	exposure to glycemic agents	http://purl.obolibrary.org/obo/ECTO_2000003	exposure to blood glucose regulator therapy		An exposure to glycemic agent therapy.
http://purl.obolibrary.org/obo/ECTO_3000000	exposure to organism	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A history of exposure to root.
http://purl.obolibrary.org/obo/ECTO_4000000	exposure to change	http://purl.obolibrary.org/obo/ECTO_0010001	exposure to qualitative environmental quality		A exposure event involving the interaction of an exposure receptor to deviation (from_normal) of characteristic.
http://purl.obolibrary.org/obo/ECTO_5000000	exposure to geographic feature	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to geographic feature.
http://purl.obolibrary.org/obo/ECTO_6000000	exposure to behavior	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		An exposure event involving Activity
http://purl.obolibrary.org/obo/ECTO_7000001	exposure to dust	http://purl.obolibrary.org/obo/ECTO_7000068	exposure to particulate matter		A exposure event involving the interaction of an exposure receptor to dust.
http://purl.obolibrary.org/obo/ECTO_8000000	exposure to environmental process	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		A exposure event involving the interaction of an exposure receptor to environmental system process.
http://purl.obolibrary.org/obo/ECTO_9000008	exposure to aspirin	http://purl.obolibrary.org/obo/ECTO_0000371	exposure to oxygen molecular entity		An exposure to acetylsalicylic acid.
http://purl.obolibrary.org/obo/ECTO_9000010	exposure to estrogens	http://purl.obolibrary.org/obo/ECTO_9002127	exposure to sex hormone		An exposure to estrogen.
http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy	http://purl.obolibrary.org/obo/MAXO_0000002	therapeutic procedure		Use of a substance introduced into a living organism with therapeutic or diagnostic purpose.
http://purl.obolibrary.org/obo/MAXO_0000157	antiparkinson agent therapy	http://purl.obolibrary.org/obo/MAXO_0000636	antidyskinesia agent therapy		Treatment with a drug used in the treatment of Parkinson's disease.
http://purl.obolibrary.org/obo/MAXO_0000160	antidepressant agent therapy	http://purl.obolibrary.org/obo/MAXO_0001022	psychotropic agent therapy		Treatment with a mood-stimulating drug used primarily in the treatment of affective disorders and related conditions.
http://purl.obolibrary.org/obo/MAXO_0000165	diuretic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000181	cardiovascular agent therapy		Therapy using an agent that promotes the excretion of urine through its effects on kidney function
http://purl.obolibrary.org/obo/MAXO_0000169	anti-inflammatory agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Use of a compound that has anti-inflammatory effects.
http://purl.obolibrary.org/obo/MAXO_0000175	blood glucose regulator therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Any drug that works to lower abnormally high glucose (sugar) levels in the blood, which are characteristic of the endocrine system disorder known as diabetes mellitus.
http://purl.obolibrary.org/obo/MAXO_0000176	hematologic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Use of a drug that acts on blood and blood-forming organs and those that affect the hemostatic system.
http://purl.obolibrary.org/obo/MAXO_0000178	anticoagulant agent therapy	http://purl.obolibrary.org/obo/MAXO_0000176	hematologic agent therapy		Use of an agent that prevents blood clotting.
http://purl.obolibrary.org/obo/MAXO_0000180	platelet aggregation inhibitor therapy	http://purl.obolibrary.org/obo/MAXO_0000176	hematologic agent therapy		Use of a drug which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system.
http://purl.obolibrary.org/obo/MAXO_0000181	cardiovascular agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Use of a drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume.
http://purl.obolibrary.org/obo/MAXO_0000185	antiarrythmic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000181	cardiovascular agent therapy		Treatment with a drug for prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres.
http://purl.obolibrary.org/obo/MAXO_0000221	NSAID therapy	http://purl.obolibrary.org/obo/MAXO_0000643	antirheumatic agent therapy		Treatment with an anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins.
http://purl.obolibrary.org/obo/MAXO_0000258	glycemic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000175	blood glucose regulator therapy		Treatment with any drug or agent taken that maintains ando/or regulates blood glucose levels.
http://purl.obolibrary.org/obo/MAXO_0000260	central nervous system agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Treatment with drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system.
http://purl.obolibrary.org/obo/MAXO_0000267	gastrointestinal agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Use of a drug for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion.
http://purl.obolibrary.org/obo/MAXO_0000316	bronchodilator therapy	http://purl.obolibrary.org/obo/MAXO_0000312	respiratory tract agent therapy		Use of an agent that causes an increase in the expansion of a bronchus or bronchial tubes.
http://purl.obolibrary.org/obo/MAXO_0001022	psychotropic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000260	central nervous system agent therapy		Use of a loosely defined grouping of drugs that have effects on psychological function.
http://purl.obolibrary.org/obo/MAXO_0001025	adrenergic drug therapy	http://purl.obolibrary.org/obo/MAXO_0001336	neurotransmitter agent therapy		Therapy using any agent that acts on an adrenergic receptor or affects adrenergic signal transduction.
http://purl.obolibrary.org/obo/MONDO_0100085	cancer of long bone of upper limb	http://purl.obolibrary.org/obo/MONDO_0024311	cancer affecting bone of limb skeleton		A cancer that involves the upper limb long bone.
http://purl.obolibrary.org/obo/MONDO_0100087	familial Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.
http://purl.obolibrary.org/obo/MONDO_0400002	calcium-alkali syndrome	http://purl.obolibrary.org/obo/MONDO_0005557	calcium metabolic disease		The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.
http://purl.obolibrary.org/obo/MONDO_0100092	myoclonus, familial, 2	http://purl.obolibrary.org/obo/MONDO_0013981	myoclonus, familial		Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.
http://purl.obolibrary.org/obo/MONDO_0100093	myoclonus, familial, 1	http://purl.obolibrary.org/obo/MONDO_0013981	myoclonus, familial		Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.
http://purl.obolibrary.org/obo/MONDO_0100094	cannabinoid hyperemesis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.
http://purl.obolibrary.org/obo/MONDO_0100095	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.
http://purl.obolibrary.org/obo/MONDO_0027068	mitochondrial complex I deficiency, mitochondrial type 1	http://purl.obolibrary.org/obo/MONDO_0100134	mitochondrial complex I deficiency, mitochondrial type		Any mitochondrial complex I deficiency, mitochondrial type, in which the cause of the disease is a mutation in the MTND3 gene.
http://purl.obolibrary.org/obo/MONDO_0032592	cardiomyopathy, dilated, 2c	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.
http://purl.obolibrary.org/obo/MONDO_0032651	fibrosis, neurodegeneration, and cerebral angiomatosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any syndromic disease caused by a mutation in the NHLRC2 gene and is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction.
http://purl.obolibrary.org/obo/MONDO_0032654	hyper-IgE recurrent infection syndrome 3, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018037	hyper-IgE syndrome		A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.
http://purl.obolibrary.org/obo/MONDO_0032672	intellectual developmental disorder with cardiac defects and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.
http://purl.obolibrary.org/obo/MONDO_0032702	Coffin-Siris syndrome 8	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.
http://purl.obolibrary.org/obo/MONDO_0032745	developmental delay with variable intellectual impairment and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by a mutation in TCF gene, characterized by impaired intellectual development with speech difficulties and behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity.
http://purl.obolibrary.org/obo/MONDO_0032770	intellectual developmental disorder with severe speech and ambulation defects	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.
http://purl.obolibrary.org/obo/MONDO_0032783	aortic valve disease 3	http://purl.obolibrary.org/obo/MONDO_0007194	familial bicuspid aortic valve		Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene.
http://purl.obolibrary.org/obo/MONDO_0032829	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles.
http://purl.obolibrary.org/obo/MONDO_0032854	Zimmermann-Laband syndrome 3	http://purl.obolibrary.org/obo/MONDO_0000200	Zimmermann-Laband syndrome		Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNN3 gene. It is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia
http://purl.obolibrary.org/obo/MONDO_0032906	spastic paraplegia 82, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.
http://purl.obolibrary.org/obo/MONDO_0032909	mitochondrial complex III deficiency, nuclear type 10	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the UQCRFS1 gene.
http://purl.obolibrary.org/obo/MONDO_0100130	adult acute respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0006502	acute respiratory distress syndrome		A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.
http://purl.obolibrary.org/obo/HP_0046508	Abnormal cervical spine morphology	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		Any morphological abnormality of the cervical vertebral column.
http://purl.obolibrary.org/obo/MONDO_0700071	myopathy caused by variation in POMT2	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Any myopathy in which the cause of the disease is a variation in the POMT2 gene.
http://purl.obolibrary.org/obo/ENVO_06105271	soil texture	http://purl.obolibrary.org/obo/PATO_0000150	texture		Texture which inheres in soil.
http://purl.obolibrary.org/obo/MONDO_0700170	equine neoplasm	http://purl.obolibrary.org/obo/MONDO_0024950	horse disease		Neoplasm that occurs in a horse.
http://purl.obolibrary.org/obo/MONDO_0700131	sarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal		Sarcoma that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700135	bovine leukemia	http://purl.obolibrary.org/obo/MONDO_0700134	bovine neoplasm		A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle
http://purl.obolibrary.org/obo/MONDO_0700175	feline neoplasm	http://purl.obolibrary.org/obo/MONDO_0024912	cat disease		Neoplasm that occurs in a cat.
http://purl.obolibrary.org/obo/HP_0034434	Abnormal communication	http://purl.obolibrary.org/obo/HP_0025792	Abnormal cognitive process		Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.
http://purl.obolibrary.org/obo/MONDO_0100324	primary focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0100313	focal segmental glomerulosclerosis		A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.
http://purl.obolibrary.org/obo/MONDO_0100331	nerve agent poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to a nerve agent or gas.
http://purl.obolibrary.org/obo/MONDO_0100335	local anesthetic poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to a local anesthetic.
http://purl.obolibrary.org/obo/MONDO_0100341	fire ant poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species.
http://purl.obolibrary.org/obo/MONDO_0100346	microcephaly with or without short stature	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0859050	Schistosoma mansoni infection, susceptibility/resistance to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited predisposition to Schistosoma mansoni infection intensity and reinfection after treatment.
http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.
http://purl.obolibrary.org/obo/MONDO_0100548	SERAC1-related neurological disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.
http://purl.obolibrary.org/obo/MONDO_0800453	juvenile absence epilepsy	http://purl.obolibrary.org/obo/MONDO_0800487	variable-age onset idiopathic generalized epilepsy syndrome		A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.
http://purl.obolibrary.org/obo/MONDO_0100554	hereditary narcolepsy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of narcolepsy that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0100555	IgA nephropathy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing IgA glomerulonephritis.
http://purl.obolibrary.org/obo/MONDO_0700261	ADAR-related type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.
http://purl.obolibrary.org/obo/MONDO_0971063	autosomal dominant dopa-responsive dystonia	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
http://purl.obolibrary.org/obo/HP_0025799	Abnormal wrist physiology	http://purl.obolibrary.org/obo/HP_0003019	Abnormality of the wrist		Any functional anomaly of the wrist.
http://purl.obolibrary.org/obo/MONDO_0100599	COL1A1-related Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
http://purl.obolibrary.org/obo/MONDO_0100602	COL2A1-related spondyloepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes.
http://purl.obolibrary.org/obo/MONDO_0100617	VPS11-related neurological disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Any neurological disorder in which the cause of the disease is a mutation in the VPS11 gene.
http://purl.obolibrary.org/obo/MONDO_0100591	TOR1AIP1-related multisystem disorder	http://purl.obolibrary.org/obo/MONDO_0100604	TOR1AIP1-related nuclear envelopathy		TOR1AIP1-related multisystem disorder is a rare, early-onset disorder affecting multiple organ systems that is caused by variation in the TOR1AIP1 gene. Clinical features reported in affected individuals are variable but may include hypotonia, dystonia, cerebellar atrophy, contractures, cardiomyopathy, microcephaly, cataract, deafness, skeletal anomalies, progeroid appearance and other facial dysmorphism, and nephrolithiasis.
http://purl.obolibrary.org/obo/MONDO_0100596	COL1A2-related osteogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A2 gene.
http://purl.obolibrary.org/obo/MONDO_0100603	FAT4-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any neurodevelopmental disorder, frequently presenting with lymphatic dysplasia, craniofacial and limb anomalies, and secondary lymphopenia from altered immune cell trafficking, in which the cause of the disease is a variation in the FAT4 gene.
http://purl.obolibrary.org/obo/MONDO_0100604	TOR1AIP1-related nuclear envelopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A hereditary disease that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function.
http://purl.obolibrary.org/obo/MONDO_0100605	POLR-related leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
http://purl.obolibrary.org/obo/MONDO_0100607	ciliary dyskinesia, primary, 54	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP54 gene.
http://purl.obolibrary.org/obo/MONDO_0100608	ALPL-related autosomal dominant hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0018570	hypophosphatasia		Any hypophosphatasia in which the cause of the disease is a variant with a dominant negative effect or haploinsufficiency in the ALPL gene.
http://purl.obolibrary.org/obo/MONDO_0100615	intestinal failure–associated liver disease	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		Liver disease found in patients on parenteral nutrition for intestinal failure. May develop with few clinical features.
http://purl.obolibrary.org/obo/MONDO_1060123	GRIN1-related complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_1060138	GRIN-related complex neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the GRIN1 gene. It is characterized by mild-to-profound developmental delay/intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior issues. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria.
http://purl.obolibrary.org/obo/MONDO_1060140	GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep	http://purl.obolibrary.org/obo/MONDO_0800501	developmental and/or epileptic encephalopathy with spike-wave activation in sleep		Any developmental and/or epileptic encephalopathy with spike-wave activation in sleep in which the cause of the disease is a variation in GRIN2A gene.
http://purl.obolibrary.org/obo/ENVO_03000009	material accumulation process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		A process during which the mass of one or more materials, present within a given site, increases.
http://purl.obolibrary.org/obo/CHEBI_137419	secondary ammonium ion	http://purl.obolibrary.org/obo/CHEBI_35274	ammonium ion derivative		An organic cation obtained by protonation of any secondary amino compound; major species at pH 7.3.
http://purl.obolibrary.org/obo/CHEBI_137980	metalloid atom	http://purl.obolibrary.org/obo/CHEBI_33250	atom		An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included.
http://purl.obolibrary.org/obo/CHEBI_137982	tertiary ammonium ion	http://purl.obolibrary.org/obo/CHEBI_25697	organic cation		An organic cation obtained by protonation of the amino group of any tertiary amino compound.
http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity	http://purl.obolibrary.org/obo/CHEBI_33579	main group molecular entity		Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0°C and 100 kPa).
http://purl.obolibrary.org/obo/MONDO_0021271	villous adenoma of colon	http://purl.obolibrary.org/obo/MONDO_0000527	colon adenoma		A villous adenoma that involves the colon.
http://purl.obolibrary.org/obo/MONDO_0021313	eyelid cancer	http://purl.obolibrary.org/obo/MONDO_0002898	skin cancer		A cancer that involves the eyelid.
http://purl.obolibrary.org/obo/MONDO_0021337	tonsil carcinoma	http://purl.obolibrary.org/obo/MONDO_0044926	oropharyngeal carcinoma		A carcinoma that involves the tonsil.
http://purl.obolibrary.org/obo/MONDO_0021345	carcinoma of pharynx	http://purl.obolibrary.org/obo/MONDO_0021246	pharynx neoplasm		A carcinoma that involves the pharynx.
http://purl.obolibrary.org/obo/MONDO_0021375	tumor of duodenum	http://purl.obolibrary.org/obo/MONDO_0004251	small intestine neoplasm		A neoplasm (disease) that involves the duodenum.
http://purl.obolibrary.org/obo/MONDO_0021381	neoplasm of pericardium	http://purl.obolibrary.org/obo/MONDO_0024757	cardiovascular neoplasm		A neoplasm (disease) that involves the pericardium.
http://purl.obolibrary.org/obo/MONDO_0021457	benign neoplasm of pleura	http://purl.obolibrary.org/obo/MONDO_0021065	pleural neoplasm		A benign neoplasm that involves the pleura.
http://purl.obolibrary.org/obo/MONDO_0021459	benign neoplasm of esophagus	http://purl.obolibrary.org/obo/MONDO_0021355	neoplasm of esophagus		A benign neoplasm that involves the esophagus.
http://purl.obolibrary.org/obo/MONDO_0021464	benign neoplasm of cecum	http://purl.obolibrary.org/obo/MONDO_0005694	cecal neoplasm		A benign neoplasm that involves the caecum.
http://purl.obolibrary.org/obo/MONDO_0021474	benign neoplasm of ear	http://purl.obolibrary.org/obo/MONDO_0021233	ear neoplasm		A benign neoplasm that involves the ear.
http://purl.obolibrary.org/obo/MONDO_0021529	benign neoplasm of chest wall	http://purl.obolibrary.org/obo/MONDO_0021388	neoplasm of chest wall		A benign neoplasm that involves the chest wall.
http://purl.obolibrary.org/obo/MONDO_0021533	intestinal neuroendocrine tumor G1	http://purl.obolibrary.org/obo/MONDO_0005369	carcinoid tumor		A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.
http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.
http://purl.obolibrary.org/obo/MONDO_0021641	Bunyaviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Virus diseases caused by the bunyaviridae.
http://purl.obolibrary.org/obo/MONDO_0021651	synpolydactyly	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).
http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.
http://purl.obolibrary.org/obo/MONDO_0021679	gram-positive bacterial infections	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.
http://purl.obolibrary.org/obo/MONDO_0021681	sexually transmitted disease	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		A Disease due to or propagated by sexual contact.
http://purl.obolibrary.org/obo/MONDO_0021682	viral sexually transmitted disease	http://purl.obolibrary.org/obo/MONDO_0021681	sexually transmitted disease		Viral diseases which are potentially transmitted or propagated by sexual conduct.
http://purl.obolibrary.org/obo/MONDO_0021697	chlamydia infectious disease	http://purl.obolibrary.org/obo/MONDO_0020776	chlamydiaceae infections		Infections with bacteria of the genus CHLAMYDIA.
http://purl.obolibrary.org/obo/MONDO_0021702	alcohol amnestic disorder	http://purl.obolibrary.org/obo/MONDO_0021698	alcohol-related disorders		A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)
http://purl.obolibrary.org/obo/MONDO_0021360	tumor of parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0002082	endocrine gland neoplasm		A neoplasm (disease) that involves the parathyroid gland.
http://purl.obolibrary.org/obo/MONDO_0021637	low grade glioma	http://purl.obolibrary.org/obo/MONDO_0021042	glioma		A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.
http://purl.obolibrary.org/obo/MONDO_0021638	low grade astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0021637	low grade glioma		A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).
http://purl.obolibrary.org/obo/MONDO_0021639	grade II glioma	http://purl.obolibrary.org/obo/MONDO_0021637	low grade glioma		A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.
http://purl.obolibrary.org/obo/MONDO_0021640	grade III glioma	http://purl.obolibrary.org/obo/MONDO_0100342	malignant glioma		A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.
http://purl.obolibrary.org/obo/MONDO_0021650	uterine corpus neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021254	corpus uteri neoplasm		An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.
http://purl.obolibrary.org/obo/MONDO_0021656	nongerminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0005040	germ cell tumor		A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.
http://purl.obolibrary.org/obo/MONDO_0021657	ovarian sex cord-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm		A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.
http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder	http://purl.obolibrary.org/obo/MONDO_7770010	disease of primarily extrinsic mechanism		A disorder that follows infection but is distinct from the infection itself and its usual manifestations.
http://purl.obolibrary.org/obo/ECTO_0000001	exposure to radiation	http://purl.obolibrary.org/obo/ECTO_8000000	exposure to environmental process		A exposure event involving the interaction of an exposure receptor to radiation.
http://purl.obolibrary.org/obo/MONDO_0024268	superficial mycosis	http://purl.obolibrary.org/obo/MONDO_0000254	cutaneous mycosis		A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.
http://purl.obolibrary.org/obo/MONDO_0024270	parasitic intestinal disorder	http://purl.obolibrary.org/obo/MONDO_0005135	parasitic infectious disease		Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.
http://purl.obolibrary.org/obo/MONDO_0024271	intestinal helminthiasis	http://purl.obolibrary.org/obo/MONDO_0024270	parasitic intestinal disorder		A parasitic helminthiasis infectious disease that involves the intestine.
http://purl.obolibrary.org/obo/MONDO_0024275	amebic dysentery	http://purl.obolibrary.org/obo/MONDO_0005644	amebiasis		Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.
http://purl.obolibrary.org/obo/HP_0020054	Abnormal erythrocyte physiology	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		Any functional abnormality of erythrocytes (red-blood cells).
http://purl.obolibrary.org/obo/HP_0032073	Aplasia of the fallopian tube	http://purl.obolibrary.org/obo/HP_0008655	Aplasia/Hypoplasia of the fallopian tube		Aplasia, that is failure to develop, of the fallopian tube.
http://purl.obolibrary.org/obo/HP_0032120	Abnormal peripheral nervous system physiology	http://purl.obolibrary.org/obo/HP_0410008	Abnormality of the peripheral nervous system		Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.
http://purl.obolibrary.org/obo/HP_0032126	Decreased unswitched memory B cell proportion	http://purl.obolibrary.org/obo/HP_0032124	Abnormal unswitched memory B cell proportion		Abnormal reduction of the unswitched memory B cell subpopulation, commonly characterized as CD27+IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.
http://purl.obolibrary.org/obo/HP_0032129	Decreased proportion of plasmablasts	http://purl.obolibrary.org/obo/HP_0032127	Abnormal plasmablast proportion		Abnormal decrease of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group.
http://purl.obolibrary.org/obo/HP_0032158	Unusual infection by anatomical site	http://purl.obolibrary.org/obo/HP_0032101	Unusual infection		An unusual infection classified by the affected body part.
http://purl.obolibrary.org/obo/HP_0032169	Severe infection	http://purl.obolibrary.org/obo/HP_0032101	Unusual infection		A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.
http://purl.obolibrary.org/obo/HP_0032180	Abnormal circulating metabolite concentration	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		An abnormal level of an analyte measured in the blood.
http://purl.obolibrary.org/obo/HP_0032243	Abnormal tissue metabolite concentration	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		Any deviation from the normal concentration of a metabolite in a tissue.
http://purl.obolibrary.org/obo/HP_0032245	Abnormal metabolism	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.
http://purl.obolibrary.org/obo/FOODON_00002501	multi-component food	http://purl.obolibrary.org/obo/FOODON_00001002	food product		A food product consisting of food material derived from ingredients sourced from multiple organisms.
http://purl.obolibrary.org/obo/FOODON_00002505	dairy cattle	http://purl.obolibrary.org/obo/FOODON_00002507	taurine cattle		Dairy cattle are a type of cattle bred for the ability to produce large quantities of milk, from which dairy products are made.  This class covers both male and female members of a dairy breed.
http://purl.obolibrary.org/obo/FOODON_00002507	taurine cattle	http://purl.obolibrary.org/obo/NCBITaxon_9913	Bos taurus		Taurine cattle (Bos taurus taurus), also called European cattle, are a subspecies of domesticated cattle originating in the Near East. Both taurine cattle and indicine cattle (zebus) are descended from the aurochs. Taurine cattle were originally considered a distinct species, but are now typically grouped with zebus and aurochs into one species, Bos taurus. Most modern breeds of cattle are taurine cattle.
http://purl.obolibrary.org/obo/MONDO_0020726	tubulointerstitial kidney disease, autosomal dominant, 2	http://purl.obolibrary.org/obo/MONDO_0008264	autosomal dominant medullary cystic kidney disease with or without hyperuricemia		An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.
http://purl.obolibrary.org/obo/MONDO_0020735	ACTH-independent macronodular adrenal hyperplasia 1	http://purl.obolibrary.org/obo/MONDO_0009049	Cushing syndrome due to macronodular adrenal hyperplasia		Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the GNAS1 gene.
http://purl.obolibrary.org/obo/MONDO_0100089	GATA1-Related X-Linked Cytopenia	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.
http://purl.obolibrary.org/obo/MONDO_0033135	Charcot-Marie-Tooth disease, demyelinating, type 1G	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.
http://purl.obolibrary.org/obo/MONDO_0033672	Duane anomaly-myopathy-scoliosis syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.
http://purl.obolibrary.org/obo/MONDO_0033717	congenital cerebellar ataxia due to RNU12 mutation	http://purl.obolibrary.org/obo/MONDO_0020043	autosomal recessive congenital cerebellar ataxia		A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.
http://purl.obolibrary.org/obo/MONDO_0033816	thygeson superficial punctate keratopathy	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.
http://purl.obolibrary.org/obo/MONDO_0033818	Terrien marginal degeneration	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism
http://purl.obolibrary.org/obo/MONDO_0033838	radiation-induced plexopathy	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.
http://purl.obolibrary.org/obo/MONDO_0033856	LAMA5-related multisystemic syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.
http://purl.obolibrary.org/obo/MONDO_0033925	pediatric-onset Graves disease	http://purl.obolibrary.org/obo/MONDO_0005364	Graves disease		A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to excessive thyroid hormone production and a swollen thyroid gland. Children with this disease typically experience symptoms of an overactive thyroid, including rapid heartbeat, weight loss, tremors, and excessive sweating.
http://purl.obolibrary.org/obo/MONDO_0033946	hereditary angioedema with C1Inh deficiency	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
http://purl.obolibrary.org/obo/MONDO_0033954	monoclonal mast cell activation syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.
http://purl.obolibrary.org/obo/MONDO_0034041	congenital axonal neuropathy with encephalopathy	http://purl.obolibrary.org/obo/MONDO_0004183	axonal neuropathy		A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.
http://purl.obolibrary.org/obo/MONDO_0035892	Mills syndrome	http://purl.obolibrary.org/obo/MONDO_0020129	acquired motor neuron disease		A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.
http://purl.obolibrary.org/obo/MONDO_0100105	brain small vessel disease 3	http://purl.obolibrary.org/obo/MONDO_0020496	familial porencephaly		An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.
http://purl.obolibrary.org/obo/MONDO_0100112	acyl-CoA binding domain containing protein 5 deficiency	http://purl.obolibrary.org/obo/MONDO_0017986	disorder of plasmalogens biosynthesis		A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.
http://purl.obolibrary.org/obo/MONDO_0100113	hearing loss with skin disease	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.
http://purl.obolibrary.org/obo/MONDO_0100114	dry age related macular degeneration	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.
http://purl.obolibrary.org/obo/MONDO_0100115	acute flaccid myelitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.
http://purl.obolibrary.org/obo/MONDO_0100196	TPM2-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.
http://purl.obolibrary.org/obo/CHEBI_176497	geroprotector	http://purl.obolibrary.org/obo/CHEBI_50267	protective agent		Any compound that supports healthy aging, slows the biological aging process, or extends lifespan.
http://purl.obolibrary.org/obo/HP_0034258	Aplasia/Hypoplasia of the midbrain	http://purl.obolibrary.org/obo/HP_0002418	Abnormal midbrain morphology		Absence or underdevelopment of the midbrain (mesencephalon).
http://purl.obolibrary.org/obo/HP_0034261	Aplasia/Hypoplasia of facial bones	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		A developmental defect characterized by absence or underdevelopment of one or more facial bone.
http://purl.obolibrary.org/obo/MONDO_0800159	disorder of polyamine metabolism	http://purl.obolibrary.org/obo/MONDO_0100473	disorder of peptide and amine metabolism		An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.
http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
http://purl.obolibrary.org/obo/MONDO_0100515	mirror movements 1 and/or agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0016558	familial congenital mirror movements		A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).
http://purl.obolibrary.org/obo/MONDO_0800152	disorder of galactose and fructose metabolism	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.
http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia	http://purl.obolibrary.org/obo/MONDO_0004739	urea cycle disorder		A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).
http://purl.obolibrary.org/obo/MONDO_0100440	Asperger syndrome, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing Asperger sydrome.
http://purl.obolibrary.org/obo/MONDO_0100477	disorder of methylamine metabolism	http://purl.obolibrary.org/obo/MONDO_0100473	disorder of peptide and amine metabolism		An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.
http://purl.obolibrary.org/obo/MONDO_0100509	IFT140-related recessive ciliopathy	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.
http://purl.obolibrary.org/obo/MONDO_0100434	chronic mountain sickness	http://purl.obolibrary.org/obo/MONDO_0006625	altitude sickness		A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.
http://purl.obolibrary.org/obo/MONDO_0100473	disorder of peptide and amine metabolism	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.
http://purl.obolibrary.org/obo/MONDO_0100514	familial ovarian carcinoma	http://purl.obolibrary.org/obo/MONDO_0016248	familial ovarian cancer		Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.
http://purl.obolibrary.org/obo/MONDO_0100516	complex neurodevelopmental disorder with motor features	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.
http://purl.obolibrary.org/obo/MONDO_0800154	inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.
http://purl.obolibrary.org/obo/MONDO_0800155	inborn disorder of glycine and serine metabolism	http://purl.obolibrary.org/obo/MONDO_0045020	glycine metabolism disease		A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.
http://purl.obolibrary.org/obo/MONDO_0800156	inborn disorder of ornithine, proline and hydroxyproline metabolism	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.
http://purl.obolibrary.org/obo/MONDO_0800157	inborn disorder of lysine, hydroxylysine, and tryptophan metabolism	http://purl.obolibrary.org/obo/MONDO_0017350	inborn disorder of tryptophan metabolism		A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.
http://purl.obolibrary.org/obo/MONDO_0800158	inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.
http://purl.obolibrary.org/obo/MONDO_0800180	CPOX-related hereditary coproporphyria	http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria		A porphyria caused by monoallelic and biallelic variants in CPOX and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants typically cause acute/episodic neurovisceral attacks with adolescent or adult onset, characterized by severe abdominal pain as well as acute motor neuropathy and other neurological symptoms. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases with biallelic variants have symptoms in infancy, including hemolytic anemia, enlarged liver and spleen (hepatosplenomegaly), and severe jaundice. Additional symptoms may include erythrodontia, red urine, fragile skin, and cutaneous photosensitivity leading to scarring of sun-exposed skin.
http://purl.obolibrary.org/obo/MONDO_0800183	PAX6-related ocular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0100534	SMARCB1-deficient kidney medullary carcinoma		Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.
http://purl.obolibrary.org/obo/MONDO_0800188	malignant hyperthermia, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing malignant hyperthermia.
http://purl.obolibrary.org/obo/MONDO_0800181	OPA1-related optic atrophy with or without extraocular features	http://purl.obolibrary.org/obo/MONDO_0004069	inborn mitochondrial metabolism disorder		Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.
http://purl.obolibrary.org/obo/MONDO_0100047	basal cell carcinoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing basal cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0800174	encephalitis, acute, infection-induced, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced.
http://purl.obolibrary.org/obo/MONDO_0800113	necrotizing vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		A type of vasculitis that is comprised of vasculitides that present with necrosis.
http://purl.obolibrary.org/obo/MONDO_0800182	TEK-related primary glaucoma	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.
http://purl.obolibrary.org/obo/HP_0034438	Balanitis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		Inflammation of glans penis
http://purl.obolibrary.org/obo/HP_0034453	Hypoplastic umbilicus	http://purl.obolibrary.org/obo/HP_0001551	Abnormal umbilicus morphology		Underdevelopment of the umbilicus.
http://purl.obolibrary.org/obo/HP_0034479	Enlarged epididymis	http://purl.obolibrary.org/obo/HP_0009714	Abnormal epididymis morphology		Abnormal increase in the size of the epididymis.
http://purl.obolibrary.org/obo/MONDO_0700222	disease related to hematopoietic stem cell transplant	http://purl.obolibrary.org/obo/MONDO_0700220	disease related to transplantation		Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.
http://purl.obolibrary.org/obo/MONDO_0100314	GYG1-related disorder of glycogen metabolism	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene.
http://purl.obolibrary.org/obo/HP_5200204	Disturbed perception with a stimulus	http://purl.obolibrary.org/obo/HP_5200202	Abnormal interpretation of external stimuli		A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.
http://purl.obolibrary.org/obo/HP_5200406	Tactile agnosia	http://purl.obolibrary.org/obo/HP_0010524	Disturbed sensory perception		The inability to recognize objects by touch is called tactile agnosia.
http://purl.obolibrary.org/obo/MONDO_0700263	RNU7-1-related type 1 interferonopathy	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
http://purl.obolibrary.org/obo/MONDO_1011107	nephropathy, COL4A4-related, dog	http://purl.obolibrary.org/obo/MONDO_1012186	nephropathy, dog		Any nephropathy in dogs in which the cause of the disease is a mutation in the COL4A4 gene.
http://purl.obolibrary.org/obo/MONDO_1011129	hypogonadotropic hypogonadism, KISS1-related, pig	http://purl.obolibrary.org/obo/MONDO_1010276	hypogonadism, non-human animal		Delayed or abolished puberty in male pigs due to a variation in the KISS1 gene.
http://purl.obolibrary.org/obo/MONDO_1011137	primary ciliary dyskinesia CCDC39-related, dog	http://purl.obolibrary.org/obo/MONDO_1012138	primary ciliary dyskinesia, dog		Any primary ciliary dyskinesia in dogs in which the cause of the disease is a mutation in the CCDC39 gene.
http://purl.obolibrary.org/obo/MONDO_1011196	osteogenesis imperfecta SERPINH1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011581	osteogenesis imperfecta, dog		Any osteogenesis imperfecta in dogs in which the cause of the disease is a mutation in the SERPINH1 gene.
http://purl.obolibrary.org/obo/MONDO_1011199	chondrodysplasia FGFR3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Hereditary chondrodysplasia in cattle associated with a variation in the FGFR3 gene.
http://purl.obolibrary.org/obo/MONDO_1011200	chondrodysplasia FGFR3-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010306	osteochondrodysplasia, non-human animal		Hereditary chondrodysplasia characterized by severe skeletal abnormalities in sheep due to a variation in the FGFR3 gene.
http://purl.obolibrary.org/obo/MONDO_1011269	early onset cataract HSF4-related, dog	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		Hereditary progressive, bilateral lens opacity affecting dogs within the first few months of life due to a mutation in the HSF4 gene.
http://purl.obolibrary.org/obo/MONDO_1011273	progressive retinal atrophy, TTC8-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy in dogs in which the cause of the disease is a mutation in the TTC8 gene.
http://purl.obolibrary.org/obo/MONDO_1011284	retinopathy, RDH5-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012240	central retinal degeneration, domestic cat		Hereditary marked delay in recovery of dark adaptation and degeneration of the area centralis (equivalent to the human macula) in cats due to a variation in the RDH5 gene.
http://purl.obolibrary.org/obo/MONDO_1012577	neurocristopathy, CHD7-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011337	neurocristopathy, non-human animal		Any neurocristopathy in cattle in which the cause of the disease is a mutation in the CHD7 gene.
http://purl.obolibrary.org/obo/MONDO_1030006	Happle-Tinschert syndrome	http://purl.obolibrary.org/obo/MONDO_1030005	mosaic SMO syndrome		Happle-Tinschert syndrome (HTS) is a rare, sporadic, multisystem disorder characterized by hypo- and hyperpigmented skin patches following Blaschko's lines, plus acral skeletal and other abnormalities and is characterized by basaloid follicular hamartomas. HTS is caused by a postzygotic mutation in the SMO gene (c.1234C>T, p.Leu412Phe).
http://purl.obolibrary.org/obo/MONDO_1040027	hypermobility spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An array of connective tissue disorders characterized by joint instability and chronic pain. Fatigue and other systemic symptoms that affect daily function may occur as well. These diseases are scored using the Beighton scoring system and one of more secondary musculoskeletal manifestations including post-traumatic symptoms, pain, altered proprioception, and a variety of other characteristics like pes planus, kyphosis, scoliosis, or joint misalignment.
http://purl.obolibrary.org/obo/MONDO_1050000	sycosis barbae	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		Folliculitis of the beard and/or mustache areas caused by a bacterial infection, usually caused by Staphylococcus aureus.
http://purl.obolibrary.org/obo/MONDO_0700337	renal tubular dysgenesis - ACE	http://purl.obolibrary.org/obo/MONDO_0009970	renal tubular dysgenesis of genetic origin		Any renal tubular dysgenesis in which the cause of the disease is a mutation in the ACE gene.
http://purl.obolibrary.org/obo/MONDO_1010100	myxedema coma	http://purl.obolibrary.org/obo/MONDO_0005420	hypothyroidism		A rare complication of hypothyroidism characterized by altered mental status, hypothermia, and symptoms related to the slowing of other organ systems.
http://purl.obolibrary.org/obo/MONDO_1010108	myxedema heart disease	http://purl.obolibrary.org/obo/MONDO_0005420	hypothyroidism		A rare complication of hypothyroidism characterized by unexplained heart failure refractory to conventional treatment.
http://purl.obolibrary.org/obo/MONDO_1010111	loin pain hematuria syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare and debilitating renal pain disorder characterized by chronic, severe loin pain with or without micro- or macroscopic hematuria.
http://purl.obolibrary.org/obo/MONDO_1010112	isolated short stature	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		A disease characterized by the height of an individual two standard deviations below the corresponding mean height for a given age, sex and population group with no known cause.
http://purl.obolibrary.org/obo/MONDO_1010116	sudden unexpected infant death	http://purl.obolibrary.org/obo/MONDO_1010120	sudden unexpected death in pediatrics		The sudden unexpected death of an apparently healthy infant under one year of age that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, examination of the death scene, and review of the clinical history.
http://purl.obolibrary.org/obo/MONDO_1010117	sudden unexplained death in childhood	http://purl.obolibrary.org/obo/MONDO_1010120	sudden unexpected death in pediatrics		The sudden unexpected death of a person age 1 to 18 years that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, and review of the clinical history and circumstances of death.
http://purl.obolibrary.org/obo/MONDO_1010120	sudden unexpected death in pediatrics	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Sudden death in children < 19 years of age that remains unexplained after a thorough case investigation, including performance of a complete autopsy with ancillary testing, and review of the clinical history and circumstances of death.
http://purl.obolibrary.org/obo/MONDO_1010122	trichrome vitiligo	http://purl.obolibrary.org/obo/MONDO_0008661	vitiligo		Any form of vitiligo characterized by a tan zone of varying width between normal and depigmented skin. This intermediate tan zone has more inflammatory cells, Langerhans cells, and melanophages than vitiliginous or normal skin. The number of melanocytes is greater than in vitiliginous skin but fewer than in normal skin.
http://purl.obolibrary.org/obo/MONDO_1010125	generalized vitiligo	http://purl.obolibrary.org/obo/MONDO_0008661	vitiligo		Any form of vitiligo characterized by loss of pigment (depigmentation) in patches of skin all over the body.
http://purl.obolibrary.org/obo/MONDO_1010131	encapsulating peritoneal sclerosis	http://purl.obolibrary.org/obo/MONDO_1010128	peritonitis		A debilitating condition characterized by a fibrocollagenous membrane encasing the small intestine, resulting in recurrent small bowel obstructions.
http://purl.obolibrary.org/obo/MONDO_1040018	X-linked syndromic complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0800439	syndromic complex neurodevelopmental disorder		A disorder that is transmitted via X-linked inheritance and involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.
http://purl.obolibrary.org/obo/MONDO_0100624	DCTN1-related neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Any neurodegenerative disorder in which the cause of the disease is a mutation in the DCTN1 gene.
http://purl.obolibrary.org/obo/MONDO_0100629	KIF5A-related neurological disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Any nervous system disorder in which the cause of the disease is a variation in the KIF5A gene.
http://purl.obolibrary.org/obo/HP_6001302	Aphakia	http://purl.obolibrary.org/obo/HP_0000517	Abnormal lens morphology		Absence of the crystalline lens in the eye, which may be congenital or acquired (e.g., following surgical removal of the lens for cataracts or trauma).
http://purl.obolibrary.org/obo/HP_0025183	Abnormal CD4+ T cell proportion	http://purl.obolibrary.org/obo/HP_0025540	Abnormal T cell subset distribution		Abnormal increase or decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.
http://purl.obolibrary.org/obo/HP_0025409	Abnormal spleen physiology	http://purl.obolibrary.org/obo/HP_0001743	Abnormality of the spleen		Any anomaly of the function of the spleen.
http://purl.obolibrary.org/obo/HP_0025456	Abnormal CSF protein concentration	http://purl.obolibrary.org/obo/HP_0002921	Abnormal cerebrospinal fluid morphology		Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.
http://purl.obolibrary.org/obo/HP_0030972	Abnormal systemic blood pressure	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		A chronic deviation from normal pressure in the systemic arterial system.
http://purl.obolibrary.org/obo/HP_0030976	Abnormal factor VIII activity	http://purl.obolibrary.org/obo/HP_0010989	Abnormality of the intrinsic pathway		A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
http://purl.obolibrary.org/obo/HP_0031064	Impaired continence	http://purl.obolibrary.org/obo/HP_0031058	Impairment of activities of daily living		Partial or total incontinence of bowel or bladder.
http://purl.obolibrary.org/obo/HP_0031097	Abnormal thyroid-stimulating hormone level	http://purl.obolibrary.org/obo/HP_0003117	Abnormal circulating hormone concentration		Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
http://purl.obolibrary.org/obo/ENVO_01001058	environment associated with a fungal tissue	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		An environmental system determined by part of a living or dead fungus.
http://purl.obolibrary.org/obo/ENVO_01000996	human-directed construction process	http://purl.obolibrary.org/obo/ENVO_02500027	anthropogenic environmental process		An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures.
http://purl.obolibrary.org/obo/ENVO_01000997	environmental system determined by a quality	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		An environmental system which is determined by materials bearing roughly homogeneous qualities.
http://purl.obolibrary.org/obo/ENVO_01000998	environmental system determined by a material	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		An environmental system within which an environmental material strongly influences the system's composition and properties.
http://purl.obolibrary.org/obo/ENVO_01001001	plant-associated environment	http://purl.obolibrary.org/obo/ENVO_01001000	environmental system determined by an organism		An environmental system determined by a green plant.
http://purl.obolibrary.org/obo/ENVO_01001002	animal-associated environment	http://purl.obolibrary.org/obo/ENVO_01001000	environmental system determined by an organism		An environmental system determined by an animal.
http://purl.obolibrary.org/obo/ENVO_01001012	lithometeor	http://purl.obolibrary.org/obo/ENVO_01001008	meteor		A meteor which is primarily composed of rock.
http://purl.obolibrary.org/obo/ENVO_01001022	natural lake	http://purl.obolibrary.org/obo/ENVO_00000020	lake		A lake which has formed as the result of processes that are not or are only minimally driven by human activity.
http://purl.obolibrary.org/obo/ENVO_01001030	environment determined by a metazoan secretion	http://purl.obolibrary.org/obo/ENVO_2100000	anatomical entity environment		An environmental system which has its properties and dynamics determined by a bodily secretion of a metazoan.
http://purl.obolibrary.org/obo/ENVO_01001040	saline environment	http://purl.obolibrary.org/obo/ENVO_01000998	environmental system determined by a material		An environment which is determined by materials which bear significant concentrations of salts.
http://purl.obolibrary.org/obo/ENVO_01001044	soil environment	http://purl.obolibrary.org/obo/ENVO_01000998	environmental system determined by a material		An environmental system which has its properties and dynamics determined by soil.
http://purl.obolibrary.org/obo/ENVO_01001052	aerosol environment	http://purl.obolibrary.org/obo/ENVO_01000998	environmental system determined by a material		An environmental system which has its properties and dynamics determined by an aerosol.
http://purl.obolibrary.org/obo/ENVO_01001053	saline aerosol environment	http://purl.obolibrary.org/obo/ENVO_01001052	aerosol environment		An environmental system which has its properties and dynamics determined by a saline aerosol.
http://purl.obolibrary.org/obo/ENVO_01001054	non-saline aerosol environment	http://purl.obolibrary.org/obo/ENVO_01001052	aerosol environment		An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes.
http://purl.obolibrary.org/obo/MONDO_0009436	congenital hypothalamic hamartoma syndrome	http://purl.obolibrary.org/obo/MONDO_0007804	Pallister-Hall syndrome		Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.
http://purl.obolibrary.org/obo/MONDO_0007031	familial abdominal aortic aneurysm	http://purl.obolibrary.org/obo/MONDO_0005350	abdominal aortic aneurysm		An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0007039	NF2-related schwannomatosis	http://purl.obolibrary.org/obo/MONDO_0021061	neurofibromatosis		A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.
http://purl.obolibrary.org/obo/MONDO_0007041	Apert syndrome	http://purl.obolibrary.org/obo/MONDO_0019796	acrocephalosyndactyly		Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.
http://purl.obolibrary.org/obo/MONDO_0007044	Acrodysostosis 1 with or without hormone resistance	http://purl.obolibrary.org/obo/MONDO_0019797	acrodysostosis		An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.
http://purl.obolibrary.org/obo/MONDO_0007058	Acropectorovertebral dysplasia	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).
http://purl.obolibrary.org/obo/MONDO_0007060	spermatogenic failure 6	http://purl.obolibrary.org/obo/MONDO_0015746	male infertility due to globozoospermia		Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.
http://purl.obolibrary.org/obo/MONDO_0007073	Hypoglossia-hypodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0007087	alternating hemiplegia of childhood 1	http://purl.obolibrary.org/obo/MONDO_0016241	alternating hemiplegia of childhood		Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.
http://purl.obolibrary.org/obo/MONDO_0007098	ACys amyloidosis	http://purl.obolibrary.org/obo/MONDO_0005620	cerebral amyloid angiopathy		Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
http://purl.obolibrary.org/obo/MONDO_0007105	frontotemporal dementia and/or amyotrophic lateral sclerosis 1	http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis		Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.
http://purl.obolibrary.org/obo/MONDO_0007109	congenital dyserythropoietic anemia type 3	http://purl.obolibrary.org/obo/MONDO_0019403	congenital dyserythropoietic anemia		Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.
http://purl.obolibrary.org/obo/MONDO_0007110	Diamond-Blackfan anemia 1	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.
http://purl.obolibrary.org/obo/MONDO_0007116	hereditary neurocutaneous angioma	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007119	isolated aniridia	http://purl.obolibrary.org/obo/MONDO_0019172	aniridia		Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
http://purl.obolibrary.org/obo/MONDO_0007126	spondyloarthropathy, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0024512	spondyloarthropathy, susceptibility to		Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene.
http://purl.obolibrary.org/obo/MONDO_0007129	tooth agenesis, selective, 1	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.
http://purl.obolibrary.org/obo/MONDO_0007145	aplasia cutis congenita	http://purl.obolibrary.org/obo/MONDO_0019294	mixed dermis disorder		Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.
http://purl.obolibrary.org/obo/MONDO_0007158	arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.
http://purl.obolibrary.org/obo/MONDO_0007171	atrial standstill 1	http://purl.obolibrary.org/obo/MONDO_0015281	atrial standstill		Any atrial standstill in which the cause of the disease is a mutation in both the GJA5 and SCN5A genes.
http://purl.obolibrary.org/obo/MONDO_0007194	familial bicuspid aortic valve	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
http://purl.obolibrary.org/obo/MONDO_0007204	Cole-Carpenter syndrome 1	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.
http://purl.obolibrary.org/obo/MONDO_0007205	diaphyseal medullary stenosis-bone malignancy syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).
http://purl.obolibrary.org/obo/MONDO_0007227	Sillence syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.
http://purl.obolibrary.org/obo/MONDO_0007232	autosomal dominant brachyolmia	http://purl.obolibrary.org/obo/MONDO_0018240	TRPV4-related bone disorder		Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
http://purl.obolibrary.org/obo/MONDO_0007233	second branchial cleft anomaly	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.
http://purl.obolibrary.org/obo/MONDO_0007238	amastia	http://purl.obolibrary.org/obo/MONDO_0015855	isolated congenital breast hypoplasia/aplasia		Absence of one or both mammary glands.
http://purl.obolibrary.org/obo/MONDO_0007265	cardiofaciocutaneous syndrome 1	http://purl.obolibrary.org/obo/MONDO_0015280	cardiofaciocutaneous syndrome		Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.
http://purl.obolibrary.org/obo/MONDO_0007295	self-limited epilepsy with centrotemporal spikes	http://purl.obolibrary.org/obo/MONDO_0800502	childhood-onset self-limited focal epilepsy syndrome		A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.
http://purl.obolibrary.org/obo/MONDO_0007316	Chiari malformation type I	http://purl.obolibrary.org/obo/MONDO_0000115	Chiari malformation		Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0007329	cirrhosis, familial	http://purl.obolibrary.org/obo/MONDO_0100137	telomere syndrome		Cirrhosis in which no causative agent can be identified.
http://purl.obolibrary.org/obo/MONDO_0007333	van der Woude syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019508	van der Woude syndrome		Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.
http://purl.obolibrary.org/obo/MONDO_0007334	autosomal dominant popliteal pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
http://purl.obolibrary.org/obo/MONDO_0007343	isolated congenital digital clubbing	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
http://purl.obolibrary.org/obo/MONDO_0007346	cochleosaccular degeneration-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007351	coloboma of macula	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
http://purl.obolibrary.org/obo/MONDO_0007355	uveal coloboma-cleft lip and palate-intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.
http://purl.obolibrary.org/obo/MONDO_0007356	Lynch syndrome 1	http://purl.obolibrary.org/obo/MONDO_0005835	Lynch syndrome		An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages.
http://purl.obolibrary.org/obo/MONDO_0007363	congenital contractural arachnodactyly	http://purl.obolibrary.org/obo/MONDO_0017310	Marfan and Marfan-related disorder		Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0007366	seizures, benign familial neonatal, 2	http://purl.obolibrary.org/obo/MONDO_0016027	benign neonatal seizures		Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.
http://purl.obolibrary.org/obo/MONDO_0007383	Stern-Lubinsky-Durrie syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.
http://purl.obolibrary.org/obo/MONDO_0007387	Cornelia de Lange syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.
http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0100087	familial Alzheimer disease		A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
http://purl.obolibrary.org/obo/MONDO_0015240	digitotalar dysmorphism	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.
http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	neoplastic syndrome		The inherited predisposition toward getting a tumor.
http://purl.obolibrary.org/obo/MONDO_0015420	cleft lip and alveolus	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.
http://purl.obolibrary.org/obo/MONDO_0015427	paroxysmal dyskinesia	http://purl.obolibrary.org/obo/MONDO_0016058	paroxysmal dystonia		Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).
http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		An otorhinolaryngologic disease characterized by the abnormal growths or passages in the tissues of the mouth, jaw, and surrounding areas.
http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of dementia that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0015746	male infertility due to globozoospermia	http://purl.obolibrary.org/obo/MONDO_0018394	male infertility with teratozoospermia due to single gene mutation		A male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida following intercourse or IVF thus fertilization fails. Fertilization efficiency is also very low following intracytoplasmic spem injection due to the absence of the oocyte activation factor protein PLCzeta.
http://purl.obolibrary.org/obo/MONDO_0015775	non-rhizomelic chondrodysplasia punctata	http://purl.obolibrary.org/obo/MONDO_0019701	chondrodysplasia punctata		Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.
http://purl.obolibrary.org/obo/MONDO_0016043	isolated cleft lip	http://purl.obolibrary.org/obo/MONDO_0004747	cleft lip		Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.
http://purl.obolibrary.org/obo/MONDO_0016044	cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.
http://purl.obolibrary.org/obo/MONDO_0016046	familial clubfoot with or without associated lower limb anomalies	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.
http://purl.obolibrary.org/obo/MONDO_0016432	heart-hand syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.
http://purl.obolibrary.org/obo/MONDO_0016713	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0021038	Ewing sarcoma/peripheral primitive neuroectodermal tumor		A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.
http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.
http://purl.obolibrary.org/obo/MONDO_0016789	pyruvate metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
http://purl.obolibrary.org/obo/MONDO_0017139	oromandibular-limb hypogenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0015498	oromandibular-limb anomalies syndrome		Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).
http://purl.obolibrary.org/obo/MONDO_0017161	frontotemporal dementia with motor neuron disease	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.
http://purl.obolibrary.org/obo/MONDO_0017705	congenital pulmonary venous return anomaly	http://purl.obolibrary.org/obo/MONDO_0020295	congenital pulmonary veins anomaly		Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.
http://purl.obolibrary.org/obo/MONDO_0017762	disorder of copper metabolism	http://purl.obolibrary.org/obo/MONDO_0017761	disorder of mineral absorption and transport		An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.
http://purl.obolibrary.org/obo/MONDO_0017846	autosomal dominant spastic ataxia	http://purl.obolibrary.org/obo/MONDO_0017845	spastic ataxia		Autosomal dominant form of spastic ataxia.
http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.
http://purl.obolibrary.org/obo/MONDO_0018050	tibial aplasia-ectrodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0018093	arbovirus fever	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.
http://purl.obolibrary.org/obo/MONDO_0018271	peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		A small round cell tumor with neural differentiation arising from the soft tissues or bone.
http://purl.obolibrary.org/obo/MONDO_0018516	epithelial tumor of anal canal	http://purl.obolibrary.org/obo/MONDO_0024634	large intestine disorder		A epithelial neoplasm that involves the anal canal.
http://purl.obolibrary.org/obo/MONDO_0018531	carcinoma of liver and intrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0006181	digestive system carcinoma		A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.
http://purl.obolibrary.org/obo/MONDO_0018630	hereditary nonpolyposis colon cancer	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.
http://purl.obolibrary.org/obo/MONDO_0018637	familial chylomicronemia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function.
http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018926	human prion disease	http://purl.obolibrary.org/obo/MONDO_0024619	central nervous system infectious disorder		Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).
http://purl.obolibrary.org/obo/MONDO_0019060	bone neoplasm	http://purl.obolibrary.org/obo/MONDO_0021581	connective tissue neoplasm		A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.
http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism	http://purl.obolibrary.org/obo/MONDO_0037829	purine metabolism disease		An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A skin disease that involves the epidermis.
http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A nail anomaly that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin	http://purl.obolibrary.org/obo/MONDO_0019288	skin pigmentation disorder		A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A disease that involves the superficial vasculature.
http://purl.obolibrary.org/obo/MONDO_0019296	subcutaneous tissue disorder	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		A disease involving the superficial fascia.
http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		An autoimmune disease characterized by blisters on the skin.
http://purl.obolibrary.org/obo/MONDO_0019453	myelodysplastic syndrome with multilineage dysplasia	http://purl.obolibrary.org/obo/MONDO_0004111	refractory hematologic cancer		Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.
http://purl.obolibrary.org/obo/MONDO_0019627	isolated congenital alacrima	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0019676	brachydactyly type B	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.
http://purl.obolibrary.org/obo/MONDO_0019677	brachydactyly type E	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.
http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.
http://purl.obolibrary.org/obo/MONDO_0019801	acute adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.
http://purl.obolibrary.org/obo/MONDO_0019832	acquired pituitary hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0015127	pituitary deficiency		An instance of hypopituitarism that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure	http://purl.obolibrary.org/obo/MONDO_0015514	hereditary endocrine growth disease		An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0019927	growth hormone-producing pituitary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0017611	pituitary tumor		An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.
http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		A infectious disease that involves the nervous system.
http://purl.obolibrary.org/obo/MONDO_0020204	conjunctival tumor	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.
http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.
http://purl.obolibrary.org/obo/MONDO_0020213	stromal corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.
http://purl.obolibrary.org/obo/MONDO_0020214	posterior corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.
http://purl.obolibrary.org/obo/MONDO_0020366	congenital glaucoma	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.
http://purl.obolibrary.org/obo/MONDO_0020374	cerulean cataract	http://purl.obolibrary.org/obo/MONDO_0020377	early-onset partial cataract		Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.
http://purl.obolibrary.org/obo/MONDO_0020511	precursor B-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0017595	aggressive B-cell non-Hodgkin lymphoma		The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0021005	faciodigitogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.
http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A neoplasm composed of at least two distinct cellular populations.
http://purl.obolibrary.org/obo/MONDO_0021045	fibroepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021043	mixed neoplasm		A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.
http://purl.obolibrary.org/obo/MONDO_0013482	Meckel syndrome, type 8	http://purl.obolibrary.org/obo/MONDO_0018921	Meckel syndrome		Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.
http://purl.obolibrary.org/obo/MONDO_0013486	spinocerebellar ataxia type 32	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.
http://purl.obolibrary.org/obo/MONDO_0013498	schizophrenia 15	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.
http://purl.obolibrary.org/obo/MONDO_0013503	candidiasis, familial, 6	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.
http://purl.obolibrary.org/obo/MONDO_0013504	spermatogenic failure 8	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.
http://purl.obolibrary.org/obo/MONDO_0013505	spermatogenic failure 9	http://purl.obolibrary.org/obo/MONDO_0015746	male infertility due to globozoospermia		Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.
http://purl.obolibrary.org/obo/MONDO_0013506	schizophrenia 16	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A schizophrenia that has material basis in a mutation on chromosome 7q36.3.
http://purl.obolibrary.org/obo/MONDO_0013509	intellectual disability, autosomal dominant 6	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.
http://purl.obolibrary.org/obo/MONDO_0013513	atrial fibrillation, familial, 9	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.
http://purl.obolibrary.org/obo/MONDO_0013517	beta-thalassemia HBB/LCRB	http://purl.obolibrary.org/obo/MONDO_0019402	beta thalassemia		Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.
http://purl.obolibrary.org/obo/MONDO_0013518	pituitary hormone deficiency, combined, 6	http://purl.obolibrary.org/obo/MONDO_0013099	combined pituitary hormone deficiencies, genetic form		Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.
http://purl.obolibrary.org/obo/MONDO_0013519	dyskeratosis congenita, autosomal recessive 2	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.
http://purl.obolibrary.org/obo/MONDO_0013520	dyskeratosis congenita, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.
http://purl.obolibrary.org/obo/MONDO_0013521	dyskeratosis congenita, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.
http://purl.obolibrary.org/obo/MONDO_0013522	dyskeratosis congenita, autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.
http://purl.obolibrary.org/obo/MONDO_0013526	progressive myoclonic epilepsy type 6	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.
http://purl.obolibrary.org/obo/MONDO_0013527	lissencephaly 4	http://purl.obolibrary.org/obo/MONDO_0700116	microcephaly with lissencephaly and/or hydranencephaly		Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.
http://purl.obolibrary.org/obo/MONDO_0013528	intellectual disability, autosomal recessive 14	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.
http://purl.obolibrary.org/obo/MONDO_0013530	atrial fibrillation, familial, 10	http://purl.obolibrary.org/obo/MONDO_1010181	SCN5A-related cardiac rhythm disorder		Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.
http://purl.obolibrary.org/obo/MONDO_0013533	hyperlipidemia due to hepatic triglyceride lipase deficiency	http://purl.obolibrary.org/obo/MONDO_0001336	familial hyperlipidemia		Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
http://purl.obolibrary.org/obo/MONDO_0013542	Moyamoya disease 5	http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease		Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.
http://purl.obolibrary.org/obo/MONDO_0013544	atrial fibrillation, familial, 11	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.
http://purl.obolibrary.org/obo/MONDO_0013545	atrial fibrillation, familial, 12	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.
http://purl.obolibrary.org/obo/MONDO_0013550	distal myopathy with posterior leg and anterior hand involvement	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
http://purl.obolibrary.org/obo/MONDO_0013554	psoriasis 13, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.
http://purl.obolibrary.org/obo/MONDO_0013568	sick sinus syndrome 3, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.
http://purl.obolibrary.org/obo/MONDO_0013570	combined oxidative phosphorylation defect type 8	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.
http://purl.obolibrary.org/obo/MONDO_0013573	cranioectodermal dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0009032	cranioectodermal dysplasia		Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.
http://purl.obolibrary.org/obo/MONDO_0013578	DYRK1A-related intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.
http://purl.obolibrary.org/obo/MONDO_0013581	intellectual disability, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.
http://purl.obolibrary.org/obo/MONDO_0013584	hereditary sensory neuropathy-deafness-dementia syndrome	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.
http://purl.obolibrary.org/obo/MONDO_0013585	hydrolethalus syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800463	KIF7-related ciliopathy		Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.
http://purl.obolibrary.org/obo/MONDO_0013588	Perrault syndrome 3	http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome		Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.
http://purl.obolibrary.org/obo/MONDO_0013590	Stickler syndrome, type 4	http://purl.obolibrary.org/obo/MONDO_0019354	Stickler syndrome		Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.
http://purl.obolibrary.org/obo/MONDO_0013595	hyperbiliverdinemia	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.
http://purl.obolibrary.org/obo/MONDO_0013599	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	http://purl.obolibrary.org/obo/MONDO_0019787	autoimmune enteropathy		Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.
http://purl.obolibrary.org/obo/MONDO_0013602	pheochromocytoma/paraganglioma syndrome 5	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.
http://purl.obolibrary.org/obo/MONDO_0013604	myopia 21, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.
http://purl.obolibrary.org/obo/MONDO_0013605	brittle cornea syndrome 2	http://purl.obolibrary.org/obo/MONDO_0009242	brittle cornea syndrome		Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.
http://purl.obolibrary.org/obo/MONDO_0013609	Meckel syndrome, type 10	http://purl.obolibrary.org/obo/MONDO_0018921	Meckel syndrome		Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.
http://purl.obolibrary.org/obo/MONDO_0013612	geleophysic dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0000127	geleophysic dysplasia		Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013616	pigmented nodular adrenocortical disease, primary, 3	http://purl.obolibrary.org/obo/MONDO_0015999	primary pigmented nodular adrenocortical disease		Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.
http://purl.obolibrary.org/obo/MONDO_0013619	nephrotic syndrome, type 6	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.
http://purl.obolibrary.org/obo/MONDO_0013621	LAMB2-related infantile-onset nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.
http://purl.obolibrary.org/obo/MONDO_0013624	Rafiq syndrome	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.
http://purl.obolibrary.org/obo/MONDO_0013626	psoriasis 14, pustular	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.
http://purl.obolibrary.org/obo/MONDO_0013627	3M syndrome 3	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.
http://purl.obolibrary.org/obo/MONDO_0013628	hyperphosphatasia with intellectual disability syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016596	hyperphosphatasia-intellectual disability syndrome		Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.
http://purl.obolibrary.org/obo/MONDO_0013630	Meckel syndrome, type 9	http://purl.obolibrary.org/obo/MONDO_0018921	Meckel syndrome		Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.
http://purl.obolibrary.org/obo/MONDO_0013633	encephalopathy, acute, infection-induced, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0800174	encephalitis, acute, infection-induced, susceptibility to		Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene.
http://purl.obolibrary.org/obo/MONDO_0013634	neuropathy, hereditary sensory, type 2C	http://purl.obolibrary.org/obo/MONDO_0700055	KIF1A related neurological disorder		Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.
http://purl.obolibrary.org/obo/MONDO_0013635	Adams-Oliver syndrome 2	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.
http://purl.obolibrary.org/obo/MONDO_0013651	intellectual disability, autosomal recessive 18	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.
http://purl.obolibrary.org/obo/MONDO_0013652	narcolepsy 7	http://purl.obolibrary.org/obo/MONDO_0100554	hereditary narcolepsy		Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.
http://purl.obolibrary.org/obo/MONDO_0013653	Parkinson disease 18, autosomal dominant, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.
http://purl.obolibrary.org/obo/MONDO_0013655	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_1060123	GRIN1-related complex neurodevelopmental disorder		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013656	intellectual disability, autosomal dominant 9	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.
http://purl.obolibrary.org/obo/MONDO_0013657	intellectual disability, autosomal dominant 10	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.
http://purl.obolibrary.org/obo/MONDO_0013658	intellectual disability, autosomal dominant 11	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.
http://purl.obolibrary.org/obo/MONDO_0013666	Stickler syndrome, type 5	http://purl.obolibrary.org/obo/MONDO_0019354	Stickler syndrome		Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.
http://purl.obolibrary.org/obo/MONDO_0013669	breast-ovarian cancer, familial, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0100526	breast-ovarian cancer, familial, susceptibility to		Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.
http://purl.obolibrary.org/obo/MONDO_0013671	hydatidiform mole, recurrent, 2	http://purl.obolibrary.org/obo/MONDO_0018944	gestational trophoblastic neoplasm		Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.
http://purl.obolibrary.org/obo/MONDO_0013673	Wolfram-like syndrome	http://purl.obolibrary.org/obo/MONDO_0700293	WFS1-related disorder		Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
http://purl.obolibrary.org/obo/MONDO_0013677	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020336	autosomal dominant Emery-Dreifuss muscular dystrophy		Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.
http://purl.obolibrary.org/obo/MONDO_0013678	EDICT syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0013685	pancreatic cancer, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0700268	BRCA1-related cancer predisposition		Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.
http://purl.obolibrary.org/obo/MONDO_0013686	distal myopathy, Tateyama type	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.
http://purl.obolibrary.org/obo/MONDO_0013689	ovarian dysgenesis 3	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.
http://purl.obolibrary.org/obo/MONDO_0013690	Pitt-Hopkins-like syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.
http://purl.obolibrary.org/obo/MONDO_0013691	Feingold syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0015267	Feingold syndrome		Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.
http://purl.obolibrary.org/obo/MONDO_0013692	BAP1-related tumor predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
http://purl.obolibrary.org/obo/MONDO_0013693	inflammatory skin and bowel disease, neonatal, 1	http://purl.obolibrary.org/obo/MONDO_0017411	neonatal inflammatory skin and bowel disease		Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.
http://purl.obolibrary.org/obo/MONDO_0013700	pancreatic triacylglycerol lipase deficiency	http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder		An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.
http://purl.obolibrary.org/obo/MONDO_0013702	intellectual disability, autosomal recessive 27	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.
http://purl.obolibrary.org/obo/MONDO_0013712	surfactant metabolism dysfunction, pulmonary, 5	http://purl.obolibrary.org/obo/MONDO_0012580	hereditary pulmonary alveolar proteinosis		Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.
http://purl.obolibrary.org/obo/MONDO_0013723	bacteremia, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0000108	bacteremia, susceptibility		Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene.
http://purl.obolibrary.org/obo/MONDO_0013724	bacteremia, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0000108	bacteremia, susceptibility		Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene.
http://purl.obolibrary.org/obo/MONDO_0013727	pregnancy loss, recurrent, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0000144	pregnancy loss, recurrent, susceptibility		Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene.
http://purl.obolibrary.org/obo/MONDO_0013728	pregnancy loss, recurrent, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0000144	pregnancy loss, recurrent, susceptibility		Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene.
http://purl.obolibrary.org/obo/MONDO_0013729	pregnancy loss, recurrent, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0000144	pregnancy loss, recurrent, susceptibility		Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene.
http://purl.obolibrary.org/obo/MONDO_0013731	MEGF10-related myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.
http://purl.obolibrary.org/obo/MONDO_0013734	microphthalmia, syndromic 11	http://purl.obolibrary.org/obo/MONDO_0016073	syndromic microphthalmia		Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.
http://purl.obolibrary.org/obo/MONDO_0013735	microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.
http://purl.obolibrary.org/obo/MONDO_0013739	chilblain lupus 2	http://purl.obolibrary.org/obo/MONDO_0700260	SAMHD1-related type 1 interferonopathy		Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.
http://purl.obolibrary.org/obo/MONDO_0013740	lethal occipital encephalocele-skeletal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.
http://purl.obolibrary.org/obo/MONDO_0013743	autosomal systemic lupus erythematosus type 16	http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus		An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.
http://purl.obolibrary.org/obo/MONDO_0013746	ventricular septal defect 1	http://purl.obolibrary.org/obo/MONDO_0100009	structural congenital heart disease, multiple types - GATA4		Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.
http://purl.obolibrary.org/obo/MONDO_0013747	atrioventricular septal defect 4	http://purl.obolibrary.org/obo/MONDO_0100009	structural congenital heart disease, multiple types - GATA4		Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.
http://purl.obolibrary.org/obo/MONDO_0013748	ventricular septal defect 2	http://purl.obolibrary.org/obo/MONDO_0002070	ventricular septal defect		Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.
http://purl.obolibrary.org/obo/MONDO_0013749	ventricular septal defect 3	http://purl.obolibrary.org/obo/MONDO_0002070	ventricular septal defect		Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.
http://purl.obolibrary.org/obo/MONDO_0013751	cutis laxa, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0019571	autosomal dominant cutis laxa		Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.
http://purl.obolibrary.org/obo/MONDO_0013752	hypoplastic left heart syndrome 2	http://purl.obolibrary.org/obo/MONDO_0004933	hypoplastic left heart syndrome		Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.
http://purl.obolibrary.org/obo/MONDO_0013754	cutis laxa, autosomal recessive, type 1B	http://purl.obolibrary.org/obo/MONDO_0019572	autosomal recessive cutis laxa type 1		An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/MONDO_0013755	PYCR1-related de Barsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.
http://purl.obolibrary.org/obo/MONDO_0013756	hypertrophic osteoarthropathy, primary, autosomal recessive, 2	http://purl.obolibrary.org/obo/MONDO_0016620	primary hypertrophic osteoarthropathy		Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.
http://purl.obolibrary.org/obo/MONDO_0013757	congenital nongoitrous hypothyroidism 6	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.
http://purl.obolibrary.org/obo/MONDO_0013759	melanoma, cutaneous malignant, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma		An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.
http://purl.obolibrary.org/obo/MONDO_0013765	coronary heart disease, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.
http://purl.obolibrary.org/obo/MONDO_0013768	arterial calcification, generalized, of infancy, 2	http://purl.obolibrary.org/obo/MONDO_0018870	arterial calcification of infancy		Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.
http://purl.obolibrary.org/obo/MONDO_0013769	atrioventricular septal defect 5	http://purl.obolibrary.org/obo/MONDO_0100540	GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes		Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.
http://purl.obolibrary.org/obo/MONDO_0013773	brain small vessel disease 2A, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_1010150	COL4A1/A2-related disorder		Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.
http://purl.obolibrary.org/obo/MONDO_0013774	trigonocephaly 2	http://purl.obolibrary.org/obo/MONDO_0018065	isolated trigonocephaly		Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.
http://purl.obolibrary.org/obo/MONDO_0013777	pseudohypoaldosteronism type 2B	http://purl.obolibrary.org/obo/MONDO_0019162	pseudohypoaldosteronism type 2		Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.
http://purl.obolibrary.org/obo/MONDO_0013778	pseudohypoaldosteronism type 2C	http://purl.obolibrary.org/obo/MONDO_0019162	pseudohypoaldosteronism type 2		Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.
http://purl.obolibrary.org/obo/MONDO_0013779	Wiskott-Aldrich syndrome 2	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.
http://purl.obolibrary.org/obo/MONDO_0013781	pseudohypoaldosteronism type 2D	http://purl.obolibrary.org/obo/MONDO_0019162	pseudohypoaldosteronism type 2		Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.
http://purl.obolibrary.org/obo/MONDO_0013782	pseudohypoaldosteronism type 2E	http://purl.obolibrary.org/obo/MONDO_0019162	pseudohypoaldosteronism type 2		Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.
http://purl.obolibrary.org/obo/MONDO_0013783	microphthalmia, isolated, with coloboma 7	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.
http://purl.obolibrary.org/obo/MONDO_0013784	neonatal-onset encephalopathy with rigidity and seizures	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. The cause of the disease is a variation in the BRAT1 gene.
http://purl.obolibrary.org/obo/MONDO_0013785	intellectual disability, autosomal recessive 34	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.
http://purl.obolibrary.org/obo/MONDO_0013789	DDOST-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
http://purl.obolibrary.org/obo/MONDO_0013790	mirror movements 2	http://purl.obolibrary.org/obo/MONDO_0016558	familial congenital mirror movements		Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.
http://purl.obolibrary.org/obo/MONDO_0013794	thrombocythemia 3	http://purl.obolibrary.org/obo/MONDO_0019111	familial thrombocytosis		Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.
http://purl.obolibrary.org/obo/MONDO_0013795	fibrochondrogenesis 2	http://purl.obolibrary.org/obo/MONDO_0016068	fibrochondrogenesis		Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.
http://purl.obolibrary.org/obo/MONDO_0013800	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
http://purl.obolibrary.org/obo/MONDO_0013801	developmental and epileptic encephalopathy, 13	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.
http://purl.obolibrary.org/obo/MONDO_0013805	intellectual disability, autosomal dominant 13	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.
http://purl.obolibrary.org/obo/MONDO_0013811	combined oxidative phosphorylation defect type 9	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.
http://purl.obolibrary.org/obo/MONDO_0013812	Baraitser-winter syndrome 2	http://purl.obolibrary.org/obo/MONDO_0017579	Baraitser-Winter cerebrofrontofacial syndrome		Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.
http://purl.obolibrary.org/obo/MONDO_0013817	preeclampsia/eclampsia 5	http://purl.obolibrary.org/obo/MONDO_0005081	preeclampsia		Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.
http://purl.obolibrary.org/obo/MONDO_0013818	trichohepatoenteric syndrome 2	http://purl.obolibrary.org/obo/MONDO_0009105	trichohepatoenteric syndrome		Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.
http://purl.obolibrary.org/obo/MONDO_0013819	intellectual disability, autosomal dominant 14	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.
http://purl.obolibrary.org/obo/MONDO_0013820	intellectual disability, autosomal dominant 15	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.
http://purl.obolibrary.org/obo/MONDO_0013821	intellectual disability, autosomal dominant 16	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.
http://purl.obolibrary.org/obo/MONDO_0013822	acrodysostosis 2 with or without hormone resistance	http://purl.obolibrary.org/obo/MONDO_0019797	acrodysostosis		Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.
http://purl.obolibrary.org/obo/MONDO_0013829	UV-sensitive syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015797	UV-sensitive syndrome		Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.
http://purl.obolibrary.org/obo/MONDO_0013834	UV-sensitive syndrome 3	http://purl.obolibrary.org/obo/MONDO_0015797	UV-sensitive syndrome		Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.
http://purl.obolibrary.org/obo/MONDO_0013835	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	http://purl.obolibrary.org/obo/MONDO_0100530	myopathy caused by variation in CRPPA		Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.
http://purl.obolibrary.org/obo/MONDO_0013837	deafness-encephaloneuropathy-obesity-valvulopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency		Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
http://purl.obolibrary.org/obo/MONDO_0013838	coenzyme Q10 deficiency, primary, 3	http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency		Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.
http://purl.obolibrary.org/obo/MONDO_0013839	hereditary sensory and autonomic neuropathy type 6	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.
http://purl.obolibrary.org/obo/MONDO_0013840	encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency		Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.
http://purl.obolibrary.org/obo/MONDO_0013843	intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	http://purl.obolibrary.org/obo/MONDO_0054868	meconium ileus		Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.
http://purl.obolibrary.org/obo/MONDO_0013845	auriculocondylar syndrome 2	http://purl.obolibrary.org/obo/MONDO_0000107	auriculocondylar syndrome		Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.
http://purl.obolibrary.org/obo/MONDO_0013849	microcephaly 8, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.
http://purl.obolibrary.org/obo/MONDO_0013860	idiopathic membranous glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.
http://purl.obolibrary.org/obo/MONDO_0013864	Cornelia de Lange syndrome 4	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.
http://purl.obolibrary.org/obo/MONDO_0013865	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
http://purl.obolibrary.org/obo/MONDO_0013870	TMEM165-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).
http://purl.obolibrary.org/obo/MONDO_0013871	Seckel syndrome 6	http://purl.obolibrary.org/obo/MONDO_0019342	Seckel syndrome		Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.
http://purl.obolibrary.org/obo/MONDO_0013872	prostate cancer, hereditary, 2	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.
http://purl.obolibrary.org/obo/MONDO_0013874	glucocorticoid deficiency 4	http://purl.obolibrary.org/obo/MONDO_0008733	familial glucocorticoid deficiency		Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.
http://purl.obolibrary.org/obo/MONDO_0013876	basal cell carcinoma, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.
http://purl.obolibrary.org/obo/MONDO_0013877	mitochondrial pyruvate carrier deficiency	http://purl.obolibrary.org/obo/MONDO_0016789	pyruvate metabolism disorder		An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.
http://purl.obolibrary.org/obo/MONDO_0013878	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.
http://purl.obolibrary.org/obo/MONDO_0013880	facial paresis, hereditary congenital, 3	http://purl.obolibrary.org/obo/MONDO_0017627	congenital hereditary facial paralysis-variable hearing loss syndrome		Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.
http://purl.obolibrary.org/obo/MONDO_0013881	epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.
http://purl.obolibrary.org/obo/MONDO_0013882	hyperphosphatasia with intellectual disability syndrome 2	http://purl.obolibrary.org/obo/MONDO_0016596	hyperphosphatasia-intellectual disability syndrome		Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.
http://purl.obolibrary.org/obo/MONDO_0013884	neuronopathy, distal hereditary motor, type 5B	http://purl.obolibrary.org/obo/MONDO_0100350	neuronopathy, distal hereditary motor, type 5		Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.
http://purl.obolibrary.org/obo/MONDO_0013885	Malan overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.
http://purl.obolibrary.org/obo/MONDO_0013888	tremor, hereditary essential, 4	http://purl.obolibrary.org/obo/MONDO_0003233	essential tremor		Any essential tremor in which the cause of the disease is a mutation in the FUS gene.
http://purl.obolibrary.org/obo/MONDO_0013890	congenital myopathy with internal nuclei and atypical cores	http://purl.obolibrary.org/obo/MONDO_0018947	centronuclear myopathy		Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
http://purl.obolibrary.org/obo/MONDO_0013892	C3 glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0018013	complement 3 glomerulopathy		Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.
http://purl.obolibrary.org/obo/MONDO_0013893	multiple sclerosis, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0007462	multiple sclerosis, susceptibility to		Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene.
http://purl.obolibrary.org/obo/MONDO_0013894	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.
http://purl.obolibrary.org/obo/MONDO_0013895	Adams-Oliver syndrome 3	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.
http://purl.obolibrary.org/obo/MONDO_0013897	Loeys-Dietz syndrome 4	http://purl.obolibrary.org/obo/MONDO_0018954	Loeys-Dietz syndrome		Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.
http://purl.obolibrary.org/obo/MONDO_0013899	Weill-Marchesani syndrome 3	http://purl.obolibrary.org/obo/MONDO_0100236	LTBP2-related ocular dysgenesis		Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.
http://purl.obolibrary.org/obo/MONDO_0013900	alternating hemiplegia of childhood 2	http://purl.obolibrary.org/obo/MONDO_0700002	ATP1A3-associated neurological disorder		Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.
http://purl.obolibrary.org/obo/MONDO_0013901	spermatogenic failure 10	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.
http://purl.obolibrary.org/obo/MONDO_0013902	aortic valve disease 2	http://purl.obolibrary.org/obo/MONDO_0007194	familial bicuspid aortic valve		Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
http://purl.obolibrary.org/obo/MONDO_0013904	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.
http://purl.obolibrary.org/obo/MONDO_0013920	herpes simplex encephalitis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene.
http://purl.obolibrary.org/obo/MONDO_0013921	herpes simplex encephalitis, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene.
http://purl.obolibrary.org/obo/MONDO_0013922	Seckel syndrome 7	http://purl.obolibrary.org/obo/MONDO_0019342	Seckel syndrome		Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
http://purl.obolibrary.org/obo/MONDO_0013923	microcephaly 9, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.
http://purl.obolibrary.org/obo/MONDO_0013931	peroxisome biogenesis disorder 4B	http://purl.obolibrary.org/obo/MONDO_0100263	peroxisome biogenesis disorder due to PEX6 defect		Any peroxisome biogenesis disorder due to PEX6 defect characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.
http://purl.obolibrary.org/obo/MONDO_0013934	combined immunodeficiency due to STK4 deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).
http://purl.obolibrary.org/obo/MONDO_0013941	metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.
http://purl.obolibrary.org/obo/MONDO_0013947	neuronopathy, distal hereditary motor, autosomal recessive 5	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.
http://purl.obolibrary.org/obo/MONDO_0013953	immunodeficiency 28	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.
http://purl.obolibrary.org/obo/MONDO_0013954	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.
http://purl.obolibrary.org/obo/MONDO_0013955	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.
http://purl.obolibrary.org/obo/MONDO_0013956	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
http://purl.obolibrary.org/obo/MONDO_0013957	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).
http://purl.obolibrary.org/obo/MONDO_0013960	sinoatrial node dysfunction and deafness	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
http://purl.obolibrary.org/obo/MONDO_0013964	Diamond-Blackfan anemia 11	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.
http://purl.obolibrary.org/obo/MONDO_0013969	combined oxidative phosphorylation defect type 11	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.
http://purl.obolibrary.org/obo/MONDO_0013971	leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.
http://purl.obolibrary.org/obo/MONDO_0013972	Perrault syndrome 2	http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome		Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0013975	ectodermal dysplasia 7, hair/nail type	http://purl.obolibrary.org/obo/MONDO_0019071	pure hair and nail ectodermal dysplasia		Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.
http://purl.obolibrary.org/obo/MONDO_0013976	ectodermal dysplasia 9, hair/nail type	http://purl.obolibrary.org/obo/MONDO_0019071	pure hair and nail ectodermal dysplasia		Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.
http://purl.obolibrary.org/obo/MONDO_0013977	combined oxidative phosphorylation defect type 13	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.
http://purl.obolibrary.org/obo/MONDO_0013981	myoclonus, familial	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.
http://purl.obolibrary.org/obo/MONDO_0013986	combined oxidative phosphorylation defect type 14	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0013987	combined oxidative phosphorylation defect type 15	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
http://purl.obolibrary.org/obo/MONDO_0013989	developmental and epileptic encephalopathy, 14	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.
http://purl.obolibrary.org/obo/MONDO_0013996	focal facial dermal dysplasia type II	http://purl.obolibrary.org/obo/MONDO_0009203	focal facial dermal dysplasia type III		Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.
http://purl.obolibrary.org/obo/MONDO_0013997	focal facial dermal dysplasia type IV	http://purl.obolibrary.org/obo/MONDO_0018363	focal facial dermal dysplasia		Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
http://purl.obolibrary.org/obo/MONDO_0013998	MEGF8-related Carpenter syndrome	http://purl.obolibrary.org/obo/MONDO_0019012	Carpenter syndrome		Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.
http://purl.obolibrary.org/obo/MONDO_0013999	retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
http://purl.obolibrary.org/obo/MONDO_0014000	congenital heart defects, multiple types, 2	http://purl.obolibrary.org/obo/MONDO_0000119	congenital heart defects, multiple types		Any congenital heart disease characterized by variable features including polyvalvular heart disease, growth failure, joint hypermobility, hypotonia, and hearing loss due to a variation in the TAB2 gene.
http://purl.obolibrary.org/obo/MONDO_0014005	immunoglobulin-mediated membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0018904	primary membranoproliferative glomerulonephritis		Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.
http://purl.obolibrary.org/obo/MONDO_0014006	Schuurs-Hoeijmakers syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.
http://purl.obolibrary.org/obo/MONDO_0014007	Aicardi-Goutieres syndrome 6	http://purl.obolibrary.org/obo/MONDO_0700261	ADAR-related type 1 interferonopathy		Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.
http://purl.obolibrary.org/obo/MONDO_0014022	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014031	microcephalic primordial dwarfism, Alazami type	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.
http://purl.obolibrary.org/obo/MONDO_0014034	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.
http://purl.obolibrary.org/obo/MONDO_0014037	spermatogenic failure 11	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.
http://purl.obolibrary.org/obo/MONDO_0014038	colorectal cancer, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.
http://purl.obolibrary.org/obo/MONDO_0014042	left ventricular noncompaction 7	http://purl.obolibrary.org/obo/MONDO_0018901	left ventricular noncompaction		Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.
http://purl.obolibrary.org/obo/MONDO_0014043	microcephalic primordial dwarfism due to ZNF335 deficiency	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.
http://purl.obolibrary.org/obo/MONDO_0014044	dysmorphism-conductive hearing loss-heart defect syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears.
http://purl.obolibrary.org/obo/MONDO_0014045	Cowden syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016063	Cowden disease		Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.
http://purl.obolibrary.org/obo/MONDO_0014046	Cowden syndrome 4	http://purl.obolibrary.org/obo/MONDO_0016063	Cowden disease		Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.
http://purl.obolibrary.org/obo/MONDO_0014047	Cowden syndrome 5	http://purl.obolibrary.org/obo/MONDO_1040002	PIK3CA-related overgrowth spectrum		Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.
http://purl.obolibrary.org/obo/MONDO_0014048	Cowden syndrome 6	http://purl.obolibrary.org/obo/MONDO_0016063	Cowden disease		Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014049	urofacial syndrome 2	http://purl.obolibrary.org/obo/MONDO_0000463	Ochoa syndrome		Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.
http://purl.obolibrary.org/obo/MONDO_0014051	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	http://purl.obolibrary.org/obo/MONDO_0015487	fatal infantile encephalocardiomyopathy		Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.
http://purl.obolibrary.org/obo/MONDO_0014058	facial dysmorphism-immunodeficiency-livedo-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.
http://purl.obolibrary.org/obo/MONDO_0014059	microphthalmia, isolated, with coloboma 9	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.
http://purl.obolibrary.org/obo/MONDO_0014061	Steel syndrome	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.
http://purl.obolibrary.org/obo/MONDO_0014070	oculocutaneous albinism type 7	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.
http://purl.obolibrary.org/obo/MONDO_0014071	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.
http://purl.obolibrary.org/obo/MONDO_0014072	D,L-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0016001	2-hydroxyglutaric aciduria		D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.
http://purl.obolibrary.org/obo/MONDO_0014076	dyskeratosis congenita, autosomal recessive 5	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.
http://purl.obolibrary.org/obo/MONDO_0014077	cobblestone lissencephaly without muscular or ocular involvement	http://purl.obolibrary.org/obo/MONDO_0018869	cobblestone lissencephaly		Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.
http://purl.obolibrary.org/obo/MONDO_0014081	severe combined immunodeficiency due to CARD11 deficiency	http://purl.obolibrary.org/obo/MONDO_0044201	T+ B+ severe combined immunodeficiency		Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.
http://purl.obolibrary.org/obo/MONDO_0014083	agammaglobulinemia 7, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia		Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.
http://purl.obolibrary.org/obo/MONDO_0014085	hydrocephalus, nonsyndromic, autosomal recessive 2	http://purl.obolibrary.org/obo/MONDO_0016349	congenital hydrocephalus		Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.
http://purl.obolibrary.org/obo/MONDO_0014087	Smith-McCort dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0015799	Smith-McCort dysplasia		Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.
http://purl.obolibrary.org/obo/MONDO_0014092	schizophrenia 18	http://purl.obolibrary.org/obo/MONDO_0100182	schizophrenia, susceptibility to		A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2.
http://purl.obolibrary.org/obo/MONDO_0014094	severe congenital hypochromic anemia with ringed sideroblasts	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.
http://purl.obolibrary.org/obo/MONDO_0014099	nephrotic syndrome, type 8	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.
http://purl.obolibrary.org/obo/MONDO_0014101	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.
http://purl.obolibrary.org/obo/MONDO_0014104	cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	http://purl.obolibrary.org/obo/MONDO_0009133	cerebellar ataxia, intellectual disability, and dysequilibrium		Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.
http://purl.obolibrary.org/obo/MONDO_0014112	cardiofaciocutaneous syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015280	cardiofaciocutaneous syndrome		Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.
http://purl.obolibrary.org/obo/MONDO_0014113	cardiofaciocutaneous syndrome 3	http://purl.obolibrary.org/obo/MONDO_0015280	cardiofaciocutaneous syndrome		Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.
http://purl.obolibrary.org/obo/MONDO_0014114	cardiofaciocutaneous syndrome 4	http://purl.obolibrary.org/obo/MONDO_0015280	cardiofaciocutaneous syndrome		Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.
http://purl.obolibrary.org/obo/MONDO_0014122	myofibromatosis, infantile, 2	http://purl.obolibrary.org/obo/MONDO_0016824	infantile myofibromatosis		Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.
http://purl.obolibrary.org/obo/MONDO_0014124	Adams-Oliver syndrome 4	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.
http://purl.obolibrary.org/obo/MONDO_0014125	symphalangism, proximal, 1B	http://purl.obolibrary.org/obo/MONDO_0008511	proximal symphalangism		Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.
http://purl.obolibrary.org/obo/MONDO_0014126	Perrault syndrome 4	http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome		Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0014127	oculocutaneous albinism type 5	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.
http://purl.obolibrary.org/obo/MONDO_0014128	TCF12-related craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.
http://purl.obolibrary.org/obo/MONDO_0014130	Dowling-Degos disease 2	http://purl.obolibrary.org/obo/MONDO_0008371	Dowling-Degos disease		Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014133	developmental and epileptic encephalopathy, 16	http://purl.obolibrary.org/obo/MONDO_0100455	neonatal-onset developmental and epileptic encephalopathy		A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
http://purl.obolibrary.org/obo/MONDO_0014134	pulmonary hypertension, primary, 2	http://purl.obolibrary.org/obo/MONDO_0017148	heritable pulmonary arterial hypertension		Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.
http://purl.obolibrary.org/obo/MONDO_0014135	pulmonary hypertension, primary, 3	http://purl.obolibrary.org/obo/MONDO_0017148	heritable pulmonary arterial hypertension		Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.
http://purl.obolibrary.org/obo/MONDO_0014136	pulmonary hypertension, primary, 4	http://purl.obolibrary.org/obo/MONDO_0017148	heritable pulmonary arterial hypertension		Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.
http://purl.obolibrary.org/obo/MONDO_0014137	precocious puberty, central, 2	http://purl.obolibrary.org/obo/MONDO_0019165	central precocious puberty		Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.
http://purl.obolibrary.org/obo/MONDO_0014139	Ehlers-Danlos syndrome, spondylodysplastic type, 2	http://purl.obolibrary.org/obo/MONDO_0100586	B3GALT6-congenital disorder of glycosylation		Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.
http://purl.obolibrary.org/obo/MONDO_0014148	estrogen resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.
http://purl.obolibrary.org/obo/MONDO_0014149	fetal akinesia-cerebral and retinal hemorrhage syndrome	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.
http://purl.obolibrary.org/obo/MONDO_0014152	left ventricular noncompaction 8	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.
http://purl.obolibrary.org/obo/MONDO_0014155	atrial fibrillation, familial, 13	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.
http://purl.obolibrary.org/obo/MONDO_0014156	atrial fibrillation, familial, 14	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.
http://purl.obolibrary.org/obo/MONDO_0014160	TCR-alpha-beta-positive T-cell deficiency	http://purl.obolibrary.org/obo/MONDO_0018814	non-SCID combined immunodeficiency		A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.
http://purl.obolibrary.org/obo/MONDO_0014162	infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
http://purl.obolibrary.org/obo/MONDO_0014163	left ventricular noncompaction 10	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.
http://purl.obolibrary.org/obo/MONDO_0014164	Meckel syndrome, type 11	http://purl.obolibrary.org/obo/MONDO_0018921	Meckel syndrome		Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.
http://purl.obolibrary.org/obo/MONDO_0014166	paroxysmal nocturnal hemoglobinuria 2	http://purl.obolibrary.org/obo/MONDO_0100244	paroxysmal nocturnal hemoglobinuria		Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.
http://purl.obolibrary.org/obo/MONDO_0014167	epilepsy, familial adult myoclonic, 5	http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic		Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.
http://purl.obolibrary.org/obo/MONDO_0014169	dyschromatosis universalis hereditaria 3	http://purl.obolibrary.org/obo/MONDO_0000736	dyschromatosis universalis hereditaria		Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.
http://purl.obolibrary.org/obo/MONDO_0014172	spermatogenic failure 12	http://purl.obolibrary.org/obo/MONDO_0018394	male infertility with teratozoospermia due to single gene mutation		Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.
http://purl.obolibrary.org/obo/MONDO_0014173	microcephaly 11, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.
http://purl.obolibrary.org/obo/MONDO_0014174	renal-hepatic-pancreatic dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0017417	renal-hepatic-pancreatic dysplasia		Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.
http://purl.obolibrary.org/obo/MONDO_0014178	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	http://purl.obolibrary.org/obo/MONDO_0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.
http://purl.obolibrary.org/obo/MONDO_0014179	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	http://purl.obolibrary.org/obo/MONDO_0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.
http://purl.obolibrary.org/obo/MONDO_0014187	aortic aneurysm, familial thoracic 8	http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection		Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.
http://purl.obolibrary.org/obo/MONDO_0014190	combined oxidative phosphorylation defect type 17	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.
http://purl.obolibrary.org/obo/MONDO_0014197	combined immunodeficiency due to MALT1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.
http://purl.obolibrary.org/obo/MONDO_0014199	developmental and epileptic encephalopathy, 17	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.
http://purl.obolibrary.org/obo/MONDO_0014200	aldosterone-producing adenoma with seizures and neurological abnormalities	http://purl.obolibrary.org/obo/MONDO_0016525	familial hyperaldosteronism		An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects.
http://purl.obolibrary.org/obo/MONDO_0014209	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.
http://purl.obolibrary.org/obo/MONDO_0014212	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	http://purl.obolibrary.org/obo/MONDO_0020480	sulfite oxidase deficiency due to molybdenum cofactor deficiency		A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.
http://purl.obolibrary.org/obo/MONDO_0014213	CTCF-related neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
http://purl.obolibrary.org/obo/MONDO_0014217	telangiectasia, hereditary hemorrhagic, type 5	http://purl.obolibrary.org/obo/MONDO_0019180	hereditary hemorrhagic telangiectasia		Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.
http://purl.obolibrary.org/obo/MONDO_0014224	developmental delay with autism spectrum disorder and gait instability	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.
http://purl.obolibrary.org/obo/MONDO_0014226	idiopathic CD4 lymphocytopenia	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.
http://purl.obolibrary.org/obo/MONDO_0014228	corneal dystrophy, Fuchs endothelial, 8	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy		Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.
http://purl.obolibrary.org/obo/MONDO_0014230	candidiasis, familial, 8	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.
http://purl.obolibrary.org/obo/MONDO_0014232	craniosynostosis 5, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene.
http://purl.obolibrary.org/obo/MONDO_0014236	Ehlers-Danlos syndrome, musculocontractural type 2	http://purl.obolibrary.org/obo/MONDO_0011142	Ehlers-Danlos syndrome, musculocontractural type		Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.
http://purl.obolibrary.org/obo/MONDO_0014240	periventricular nodular heterotopia 6	http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia		Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.
http://purl.obolibrary.org/obo/MONDO_0014241	leukemia, acute lymphoblastic, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.
http://purl.obolibrary.org/obo/MONDO_0014242	van Maldergem syndrome 2	http://purl.obolibrary.org/obo/MONDO_0017813	van Maldergem syndrome		Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.
http://purl.obolibrary.org/obo/MONDO_0014245	Diamond-Blackfan anemia 12	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.
http://purl.obolibrary.org/obo/MONDO_0014246	episodic pain syndrome, familial, 2	http://purl.obolibrary.org/obo/MONDO_0018319	familial episodic pain syndrome		Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.
http://purl.obolibrary.org/obo/MONDO_0014247	familial episodic pain syndrome with predominantly lower limb involvement	http://purl.obolibrary.org/obo/MONDO_0018319	familial episodic pain syndrome		A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.
http://purl.obolibrary.org/obo/MONDO_0014248	autism spectrum disorder - epilepsy - arthrogryposis syndrome	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).
http://purl.obolibrary.org/obo/MONDO_0014249	multiple fibroadenoma of the breast	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.
http://purl.obolibrary.org/obo/MONDO_0014250	familial hyperprolactinemia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.
http://purl.obolibrary.org/obo/MONDO_0014254	otofaciocervical syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008163	otofaciocervical syndrome		Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.
http://purl.obolibrary.org/obo/MONDO_0014257	nephrotic syndrome, type 9	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.
http://purl.obolibrary.org/obo/MONDO_0014259	neuronopathy, distal hereditary motor, type 2D	http://purl.obolibrary.org/obo/MONDO_0015352	distal hereditary motor neuropathy type 2		Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.
http://purl.obolibrary.org/obo/MONDO_0014260	immunodeficiency, common variable, 10	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.
http://purl.obolibrary.org/obo/MONDO_0014261	growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
http://purl.obolibrary.org/obo/MONDO_0014267	severe combined immunodeficiency due to IKK2 deficiency	http://purl.obolibrary.org/obo/MONDO_0044201	T+ B+ severe combined immunodeficiency		Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
http://purl.obolibrary.org/obo/MONDO_0014268	combined immunodeficiency due to OX40 deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.
http://purl.obolibrary.org/obo/MONDO_0014269	combined oxidative phosphorylation deficiency 19	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.
http://purl.obolibrary.org/obo/MONDO_0014270	STT3A-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).
http://purl.obolibrary.org/obo/MONDO_0014272	palmoplantar keratoderma, Nagashima type	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.
http://purl.obolibrary.org/obo/MONDO_0014273	microcephaly-thin corpus callosum-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
http://purl.obolibrary.org/obo/MONDO_0014275	Fanconi renotubular syndrome 3	http://purl.obolibrary.org/obo/MONDO_0007600	primary Fanconi syndrome		Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.
http://purl.obolibrary.org/obo/MONDO_0014276	combined immunodeficiency due to CD3gamma deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.
http://purl.obolibrary.org/obo/MONDO_0014278	immunodeficiency 18	http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency		Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.
http://purl.obolibrary.org/obo/MONDO_0014280	immunodeficiency 19	http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency		Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.
http://purl.obolibrary.org/obo/MONDO_0014286	neuropathy, hereditary sensory, type 1F	http://purl.obolibrary.org/obo/MONDO_0018213	hereditary sensory and autonomic neuropathy type 1		Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.
http://purl.obolibrary.org/obo/MONDO_0014289	macrocephaly-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.
http://purl.obolibrary.org/obo/MONDO_0014300	proximal myopathy with extrapyramidal signs	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.
http://purl.obolibrary.org/obo/MONDO_0014306	deficiency of adenosine deaminase 2	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered.
http://purl.obolibrary.org/obo/MONDO_0014307	Dowling-Degos disease 4	http://purl.obolibrary.org/obo/MONDO_0008371	Dowling-Degos disease		Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014310	hereditary sclerosing poikiloderma with tendon and pulmonary involvement	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.
http://purl.obolibrary.org/obo/MONDO_0014318	hyperphosphatasia with intellectual disability syndrome 4	http://purl.obolibrary.org/obo/MONDO_0016596	hyperphosphatasia-intellectual disability syndrome		Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.
http://purl.obolibrary.org/obo/MONDO_0014319	renal hypodysplasia/aplasia 2	http://purl.obolibrary.org/obo/MONDO_0018470	renal agenesis		Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.
http://purl.obolibrary.org/obo/MONDO_0014320	Bosch-Boonstra-Schaaf optic atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
http://purl.obolibrary.org/obo/MONDO_0014321	premature ovarian failure 8	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.
http://purl.obolibrary.org/obo/MONDO_0014322	premature ovarian failure 9	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.
http://purl.obolibrary.org/obo/MONDO_0014324	pachyonychia congenita 3	http://purl.obolibrary.org/obo/MONDO_0016471	pachyonychia congenita		Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.
http://purl.obolibrary.org/obo/MONDO_0014325	pachyonychia congenita 4	http://purl.obolibrary.org/obo/MONDO_0016471	pachyonychia congenita		Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.
http://purl.obolibrary.org/obo/MONDO_0014328	developmental and epileptic encephalopathy, 19	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.
http://purl.obolibrary.org/obo/MONDO_0014329	atrial standstill 2	http://purl.obolibrary.org/obo/MONDO_0015281	atrial standstill		Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.
http://purl.obolibrary.org/obo/MONDO_0014331	Moyamoya disease with early-onset achalasia	http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease		Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
http://purl.obolibrary.org/obo/MONDO_0014340	atrial fibrillation, familial, 15	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.
http://purl.obolibrary.org/obo/MONDO_0014342	female infertility due to zona pellucida defect	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.
http://purl.obolibrary.org/obo/MONDO_0014343	Desbuquois dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0015426	Desbuquois dysplasia		Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014344	congenital heart defects, multiple types, 4	http://purl.obolibrary.org/obo/MONDO_0000119	congenital heart defects, multiple types		Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.
http://purl.obolibrary.org/obo/MONDO_0014348	intellectual disability, autosomal recessive 42	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014350	Seckel syndrome 8	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.
http://purl.obolibrary.org/obo/MONDO_0014354	intellectual disability, autosomal recessive 43	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.
http://purl.obolibrary.org/obo/MONDO_0014357	intellectual disability, autosomal dominant 24	http://purl.obolibrary.org/obo/MONDO_0800443	DEAF1-associated neurodevelopmental disorder		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.
http://purl.obolibrary.org/obo/MONDO_0014359	pigmented nodular adrenocortical disease, primary, 4	http://purl.obolibrary.org/obo/MONDO_0015999	primary pigmented nodular adrenocortical disease		Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.
http://purl.obolibrary.org/obo/MONDO_0014360	developmental and epileptic encephalopathy, 21	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014361	autism spectrum disorder due to AUTS2 deficiency	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.
http://purl.obolibrary.org/obo/MONDO_0014365	spermatogenic failure 13	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.
http://purl.obolibrary.org/obo/MONDO_0014366	spermatogenic failure 14	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.
http://purl.obolibrary.org/obo/MONDO_0014367	Aicardi-Goutieres syndrome 7	http://purl.obolibrary.org/obo/MONDO_0700262	IFIH1-related type 1 interferonopathy		Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.
http://purl.obolibrary.org/obo/MONDO_0014368	tumor predisposition syndrome 3	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		Any hereditary cancer predisposition due to variation(s) in the POT1 gene, which confers a predisposition to development of various types of benign and malignant neoplasms.
http://purl.obolibrary.org/obo/MONDO_0014369	postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
http://purl.obolibrary.org/obo/MONDO_0014373	nephrotic syndrome, type 10	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.
http://purl.obolibrary.org/obo/MONDO_0014377	developmental and epileptic encephalopathy, 24	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.
http://purl.obolibrary.org/obo/MONDO_0014379	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
http://purl.obolibrary.org/obo/MONDO_0014380	colobomatous microphthalmia-rhizomelic dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.
http://purl.obolibrary.org/obo/MONDO_0014381	cholestasis, progressive familial intrahepatic, 4	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.
http://purl.obolibrary.org/obo/MONDO_0014382	Tatton-Brown-Rahman overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.
http://purl.obolibrary.org/obo/MONDO_0014383	myopathy, tubular aggregate, 2	http://purl.obolibrary.org/obo/MONDO_0008051	tubular aggregate myopathy		Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.
http://purl.obolibrary.org/obo/MONDO_0014388	familial median cleft of the upper and lower lips	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.
http://purl.obolibrary.org/obo/MONDO_0014389	polyglucosan body myopathy 1 with or without immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0000192	polyglucosan body myopathy		A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0014391	combined immunodeficiency due to CTPS1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		Rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
http://purl.obolibrary.org/obo/MONDO_0014393	lymphatic malformation 4	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.
http://purl.obolibrary.org/obo/MONDO_0014394	Diamond-Blackfan anemia 13	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.
http://purl.obolibrary.org/obo/MONDO_0014397	combined oxidative phosphorylation defect type 20	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0014398	combined oxidative phosphorylation defect type 21	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
http://purl.obolibrary.org/obo/MONDO_0014401	tall stature-scoliosis-macrodactyly of the great toes syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
http://purl.obolibrary.org/obo/MONDO_0014403	short stature due to GHSR deficiency	http://purl.obolibrary.org/obo/MONDO_0019824	non-acquired pituitary hormone deficiency		Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
http://purl.obolibrary.org/obo/MONDO_0014406	pancreatic agenesis 2	http://purl.obolibrary.org/obo/MONDO_0009832	pancreatic agenesis		Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.
http://purl.obolibrary.org/obo/MONDO_0014407	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800485	AKT3-related overgrowth spectrum		Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.
http://purl.obolibrary.org/obo/MONDO_0014408	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	http://purl.obolibrary.org/obo/MONDO_0019375	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome		Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.
http://purl.obolibrary.org/obo/MONDO_0014409	intellectual disability, autosomal recessive 44	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.
http://purl.obolibrary.org/obo/MONDO_0014412	hyperlipoproteinemia, type 1D	http://purl.obolibrary.org/obo/MONDO_0018637	familial chylomicronemia syndrome		Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014413	orofaciodigital syndrome type 14	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.
http://purl.obolibrary.org/obo/MONDO_0014416	ACTH-independent macronodular adrenal hyperplasia 2	http://purl.obolibrary.org/obo/MONDO_0009049	Cushing syndrome due to macronodular adrenal hyperplasia		Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.
http://purl.obolibrary.org/obo/MONDO_0014418	myopathy, centronuclear, 5	http://purl.obolibrary.org/obo/MONDO_0015705	autosomal recessive centronuclear myopathy		Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.
http://purl.obolibrary.org/obo/MONDO_0014419	ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.
http://purl.obolibrary.org/obo/MONDO_0014420	short stature due to primary acid-labile subunit deficiency	http://purl.obolibrary.org/obo/MONDO_0015892	growth hormone insensitivity syndrome		Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.
http://purl.obolibrary.org/obo/MONDO_0014422	vesicoureteral reflux 8	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.
http://purl.obolibrary.org/obo/MONDO_0014423	severe combined immunodeficiency due to DNA-PKcs deficiency	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
http://purl.obolibrary.org/obo/MONDO_0014426	nanophthalmos 4	http://purl.obolibrary.org/obo/MONDO_0005514	nanophthalmia		Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.
http://purl.obolibrary.org/obo/MONDO_0014429	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
http://purl.obolibrary.org/obo/MONDO_0014430	intellectual disability, autosomal recessive 45	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.
http://purl.obolibrary.org/obo/MONDO_0014450	breasts and/or nipples, aplasia or hypoplasia of, 2	http://purl.obolibrary.org/obo/MONDO_0015855	isolated congenital breast hypoplasia/aplasia		Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.
http://purl.obolibrary.org/obo/MONDO_0014453	immunodeficiency 36 with lymphoproliferation	http://purl.obolibrary.org/obo/MONDO_0018338	activated PI3K-delta syndrome		A primary immunodeficiency disease in which the cause of the disease is a mutation in PIK3R1 gene. It is characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity.
http://purl.obolibrary.org/obo/MONDO_0014454	Hennekam lymphangiectasia-lymphedema syndrome 2	http://purl.obolibrary.org/obo/MONDO_0016256	Hennekam syndrome		Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.
http://purl.obolibrary.org/obo/MONDO_0014457	hyperphosphatasia with intellectual disability syndrome 5	http://purl.obolibrary.org/obo/MONDO_0016596	hyperphosphatasia-intellectual disability syndrome		Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.
http://purl.obolibrary.org/obo/MONDO_0014458	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	http://purl.obolibrary.org/obo/MONDO_0100238	inherited Fanconi renotubular syndrome		Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.
http://purl.obolibrary.org/obo/MONDO_0014459	Adams-Oliver syndrome 5	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.
http://purl.obolibrary.org/obo/MONDO_0014460	nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
http://purl.obolibrary.org/obo/MONDO_0014473	microcephaly 13, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.
http://purl.obolibrary.org/obo/MONDO_0014478	mirror movements 3	http://purl.obolibrary.org/obo/MONDO_0016558	familial congenital mirror movements		Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.
http://purl.obolibrary.org/obo/MONDO_0014481	inflammatory skin and bowel disease, neonatal, 2	http://purl.obolibrary.org/obo/MONDO_0017411	neonatal inflammatory skin and bowel disease		Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.
http://purl.obolibrary.org/obo/MONDO_0014482	intellectual disability, autosomal dominant 29	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms.
http://purl.obolibrary.org/obo/MONDO_0014484	microcephaly 12, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.
http://purl.obolibrary.org/obo/MONDO_0014485	pontocerebellar hypoplasia, type 1C	http://purl.obolibrary.org/obo/MONDO_0016396	pontocerebellar hypoplasia type 1		Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
http://purl.obolibrary.org/obo/MONDO_0014486	intellectual disability, autosomal dominant 30	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.
http://purl.obolibrary.org/obo/MONDO_0014487	congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0020099	inherited sideroblastic anemia		Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.
http://purl.obolibrary.org/obo/MONDO_0014488	diabetes mellitus, noninsulin-dependent, 5	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.
http://purl.obolibrary.org/obo/MONDO_0014489	limb-girdle muscular dystrophy due to POMK deficiency	http://purl.obolibrary.org/obo/MONDO_0016155	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan		Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
http://purl.obolibrary.org/obo/MONDO_0014491	immunodeficiency 37	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.
http://purl.obolibrary.org/obo/MONDO_0014492	wooly hair-palmoplantar keratoderma syndrome	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.
http://purl.obolibrary.org/obo/MONDO_0014494	psoriasis 15, pustular, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene.
http://purl.obolibrary.org/obo/MONDO_0014499	intellectual disability, autosomal recessive 46	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.
http://purl.obolibrary.org/obo/MONDO_0014502	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.
http://purl.obolibrary.org/obo/MONDO_0014504	Perrault syndrome 5	http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome		Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.
http://purl.obolibrary.org/obo/MONDO_0014505	developmental and epileptic encephalopathy, 27	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.
http://purl.obolibrary.org/obo/MONDO_0014508	vitelliform macular dystrophy 4	http://purl.obolibrary.org/obo/MONDO_1040037	IMPG1-related recessive retinopathy		Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.
http://purl.obolibrary.org/obo/MONDO_0014509	vitelliform macular dystrophy 5	http://purl.obolibrary.org/obo/MONDO_0700242	IMPG2-related dominant retinopathy		Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.
http://purl.obolibrary.org/obo/MONDO_0014510	fatty acyl-CoA reductase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0100275	fatty acyl-CoA reductase defects		A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
http://purl.obolibrary.org/obo/MONDO_0014512	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_1060108	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome		A rare, genetic neurological disease in which the cause of the disease is a point mutation in the PURA gene. It is typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.
http://purl.obolibrary.org/obo/MONDO_0014514	aortic aneurysm, familial thoracic 9	http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection		Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.
http://purl.obolibrary.org/obo/MONDO_0014517	generalized epilepsy with febrile seizures plus, type 9	http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus		Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.
http://purl.obolibrary.org/obo/MONDO_0014521	progressive myoclonic epilepsy type 7	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.
http://purl.obolibrary.org/obo/MONDO_0014524	intellectual disability, autosomal recessive 47	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.
http://purl.obolibrary.org/obo/MONDO_0014525	combined oxidative phosphorylation defect type 23	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.
http://purl.obolibrary.org/obo/MONDO_0014526	polyglucosan body myopathy type 2	http://purl.obolibrary.org/obo/MONDO_0100314	GYG1-related disorder of glycogen metabolism		Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.
http://purl.obolibrary.org/obo/MONDO_0014529	cerebellar-facial-dental syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
http://purl.obolibrary.org/obo/MONDO_0014533	developmental and epileptic encephalopathy, 28	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.
http://purl.obolibrary.org/obo/MONDO_0014534	lissencephaly 6 with microcephaly	http://purl.obolibrary.org/obo/MONDO_0015204	microlissencephaly		Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.
http://purl.obolibrary.org/obo/MONDO_0014536	thrombocytopenia 5	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.
http://purl.obolibrary.org/obo/MONDO_0014538	fibrosis of extraocular muscles, congenital, 5	http://purl.obolibrary.org/obo/MONDO_0008340	congenital ptosis		Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.
http://purl.obolibrary.org/obo/MONDO_0014541	motor developmental delay due to 14q32.2 paternally expressed gene defect	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.
http://purl.obolibrary.org/obo/MONDO_0014545	progressive myoclonic epilepsy type 8	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.
http://purl.obolibrary.org/obo/MONDO_0014546	myopathy due to calsequestrin and SERCA1 protein overload	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
http://purl.obolibrary.org/obo/MONDO_0014547	combined oxidative phosphorylation defect type 24	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0014549	lethal congenital contracture syndrome 6	http://purl.obolibrary.org/obo/MONDO_0017436	lethal congenital contracture syndrome		Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.
http://purl.obolibrary.org/obo/MONDO_0014552	lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
http://purl.obolibrary.org/obo/MONDO_0014555	peeling skin syndrome type A	http://purl.obolibrary.org/obo/MONDO_0010033	generalized peeling skin syndrome		Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.
http://purl.obolibrary.org/obo/MONDO_0014558	autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
http://purl.obolibrary.org/obo/MONDO_0014569	lethal congenital contracture syndrome 7	http://purl.obolibrary.org/obo/MONDO_0700428	hypomyelination neuropathy-arthrogryposis syndrome		Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014570	lethal congenital contracture syndrome 8	http://purl.obolibrary.org/obo/MONDO_0700428	hypomyelination neuropathy-arthrogryposis syndrome		Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.
http://purl.obolibrary.org/obo/MONDO_0014573	Cole-Carpenter syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.
http://purl.obolibrary.org/obo/MONDO_0014575	Singleton-Merten syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.
http://purl.obolibrary.org/obo/MONDO_0014579	Senior-Loken syndrome 8	http://purl.obolibrary.org/obo/MONDO_0017842	Senior-Loken syndrome		Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.
http://purl.obolibrary.org/obo/MONDO_0014580	intellectual disability, autosomal dominant 33	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.
http://purl.obolibrary.org/obo/MONDO_0014593	developmental and epileptic encephalopathy, 29	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.
http://purl.obolibrary.org/obo/MONDO_0014595	developmental and epileptic encephalopathy, 30	http://purl.obolibrary.org/obo/MONDO_0800491	early-infantile DEE		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.
http://purl.obolibrary.org/obo/MONDO_0014597	immunodeficiency 39	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.
http://purl.obolibrary.org/obo/MONDO_0014598	developmental and epileptic encephalopathy, 31A	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene.
http://purl.obolibrary.org/obo/MONDO_0014599	intellectual disability, autosomal dominant 34	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.
http://purl.obolibrary.org/obo/MONDO_0014600	dyskeratosis congenita, autosomal recessive 6	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.
http://purl.obolibrary.org/obo/MONDO_0014602	Houge-Janssens syndrome 1	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
http://purl.obolibrary.org/obo/MONDO_0014606	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).
http://purl.obolibrary.org/obo/MONDO_0014607	developmental and epileptic encephalopathy, 32	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.
http://purl.obolibrary.org/obo/MONDO_0014612	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.
http://purl.obolibrary.org/obo/MONDO_0014613	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.
http://purl.obolibrary.org/obo/MONDO_0014617	intellectual disability, autosomal dominant 38	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.
http://purl.obolibrary.org/obo/MONDO_0014623	microcephaly 14, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.
http://purl.obolibrary.org/obo/MONDO_0014624	Brown syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.
http://purl.obolibrary.org/obo/MONDO_0014625	developmental and epileptic encephalopathy, 33	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.
http://purl.obolibrary.org/obo/MONDO_0014626	spinocerebellar ataxia type 41	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
http://purl.obolibrary.org/obo/MONDO_0014628	basal ganglia calcification, idiopathic, 6	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.
http://purl.obolibrary.org/obo/MONDO_0014629	autoimmune interstitial lung disease-arthritis syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.
http://purl.obolibrary.org/obo/MONDO_0014633	epilepsy with myoclonic atonic seizures	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
http://purl.obolibrary.org/obo/MONDO_0014635	microphthalmia, isolated, with coloboma 10	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.
http://purl.obolibrary.org/obo/MONDO_0014636	combined oxidative phosphorylation defect type 25	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0014642	candidiasis, familial, 9	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.
http://purl.obolibrary.org/obo/MONDO_0014645	BENTA disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.
http://purl.obolibrary.org/obo/MONDO_0014646	Zimmermann-Laband syndrome 2	http://purl.obolibrary.org/obo/MONDO_0000200	Zimmermann-Laband syndrome		Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.
http://purl.obolibrary.org/obo/MONDO_0014649	intellectual disability, autosomal recessive 50	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.
http://purl.obolibrary.org/obo/MONDO_0014652	exudative vitreoretinopathy 6	http://purl.obolibrary.org/obo/MONDO_0019516	exudative vitreoretinopathy		Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.
http://purl.obolibrary.org/obo/MONDO_0014654	Ullrich congenital muscular dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0000355	Ullrich congenital muscular dystrophy		Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.
http://purl.obolibrary.org/obo/MONDO_0014656	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	http://purl.obolibrary.org/obo/MONDO_0018002	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.
http://purl.obolibrary.org/obo/MONDO_0014659	infantile liver failure syndrome 2	http://purl.obolibrary.org/obo/MONDO_0000023	infantile liver failure		Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.
http://purl.obolibrary.org/obo/MONDO_0014661	epidermolysis bullosa simplex with nail dystrophy	http://purl.obolibrary.org/obo/MONDO_1060109	PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder		A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized skin blistering associated with severe nail dystrophy.
http://purl.obolibrary.org/obo/MONDO_0014662	congenital insensitivity to pain-hypohidrosis syndrome	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.
http://purl.obolibrary.org/obo/MONDO_0014667	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	http://purl.obolibrary.org/obo/MONDO_0015487	fatal infantile encephalocardiomyopathy		Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.
http://purl.obolibrary.org/obo/MONDO_0014668	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	http://purl.obolibrary.org/obo/MONDO_0015487	fatal infantile encephalocardiomyopathy		Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.
http://purl.obolibrary.org/obo/MONDO_0014669	cone-rod dystrophy 21	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.
http://purl.obolibrary.org/obo/MONDO_0014670	lethal congenital contracture syndrome 9	http://purl.obolibrary.org/obo/MONDO_0017436	lethal congenital contracture syndrome		Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
http://purl.obolibrary.org/obo/MONDO_0014671	neuropathy, hereditary motor and sensory, type 6B	http://purl.obolibrary.org/obo/MONDO_0019551	hereditary motor and sensory neuropathy type 6		Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.
http://purl.obolibrary.org/obo/MONDO_0014678	intellectual disability, autosomal dominant 39	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.
http://purl.obolibrary.org/obo/MONDO_0014680	herpes simplex encephalitis, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene.
http://purl.obolibrary.org/obo/MONDO_0014681	thyroid cancer, nonmedullary, 4	http://purl.obolibrary.org/obo/MONDO_0005034	thyroid gland follicular carcinoma		Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene.
http://purl.obolibrary.org/obo/MONDO_0014682	thyroid cancer, nonmedullary, 5	http://purl.obolibrary.org/obo/MONDO_0005034	thyroid gland follicular carcinoma		Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene.
http://purl.obolibrary.org/obo/MONDO_0014684	combined oxidative phosphorylation defect type 26	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.
http://purl.obolibrary.org/obo/MONDO_0014685	progressive myoclonic epilepsy type 9	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.
http://purl.obolibrary.org/obo/MONDO_0014690	dyskeratosis congenita, autosomal dominant 6	http://purl.obolibrary.org/obo/MONDO_0100569	ACD-related short telomere syndrome		A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.
http://purl.obolibrary.org/obo/MONDO_0014694	spondylocostal dysostosis 6, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010180	autosomal recessive spondylocostal dysostosis		Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.
http://purl.obolibrary.org/obo/MONDO_0014697	immunodeficiency, common variable, 12	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.
http://purl.obolibrary.org/obo/MONDO_0014699	intellectual disability, autosomal dominant 40	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014703	Adams-Oliver syndrome 6	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.
http://purl.obolibrary.org/obo/MONDO_0014705	craniosynostosis 6	http://purl.obolibrary.org/obo/MONDO_0018971	isolated oxycephaly		Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.
http://purl.obolibrary.org/obo/MONDO_0014706	cutis laxa, autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0100126	P5CS deficiency		An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
http://purl.obolibrary.org/obo/MONDO_0014707	14q32 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016964	partial duplication of the long arm of chromosome 14		14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.
http://purl.obolibrary.org/obo/MONDO_0014710	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.
http://purl.obolibrary.org/obo/MONDO_0014712	Senior-Loken syndrome 9	http://purl.obolibrary.org/obo/MONDO_0017842	Senior-Loken syndrome		Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.
http://purl.obolibrary.org/obo/MONDO_0014713	porokeratosis 9, multiple types	http://purl.obolibrary.org/obo/MONDO_0019212	disseminated superficial actinic porokeratosis		Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.
http://purl.obolibrary.org/obo/MONDO_0014714	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
http://purl.obolibrary.org/obo/MONDO_0014715	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.
http://purl.obolibrary.org/obo/MONDO_0014716	macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.
http://purl.obolibrary.org/obo/MONDO_0014717	early-onset Lafora body disease	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.
http://purl.obolibrary.org/obo/MONDO_0014718	developmental and epileptic encephalopathy, 34	http://purl.obolibrary.org/obo/MONDO_0100455	neonatal-onset developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.
http://purl.obolibrary.org/obo/MONDO_0014728	combined oxidative phosphorylation defect type 27	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.
http://purl.obolibrary.org/obo/MONDO_0014731	seizures-scoliosis-macrocephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.
http://purl.obolibrary.org/obo/MONDO_0014737	dehydrated hereditary stomatocytosis 2	http://purl.obolibrary.org/obo/MONDO_0017910	dehydrated hereditary stomatocytosis		Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.
http://purl.obolibrary.org/obo/MONDO_0014742	Parkinson disease 22, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008199	late-onset Parkinson disease		Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.
http://purl.obolibrary.org/obo/MONDO_0014744	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
http://purl.obolibrary.org/obo/MONDO_0014749	tooth agenesis, selective, 7	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.
http://purl.obolibrary.org/obo/MONDO_0014751	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.
http://purl.obolibrary.org/obo/MONDO_0014752	nephrotic syndrome, type 11	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.
http://purl.obolibrary.org/obo/MONDO_0014754	primary coenzyme Q10 deficiency 8	http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency		Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.
http://purl.obolibrary.org/obo/MONDO_0014756	tremor, hereditary essential, 5	http://purl.obolibrary.org/obo/MONDO_0003233	essential tremor		Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.
http://purl.obolibrary.org/obo/MONDO_0014758	radioulnar synostosis with amegakaryocytic thrombocytopenia 2	http://purl.obolibrary.org/obo/MONDO_0011555	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome		Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.
http://purl.obolibrary.org/obo/MONDO_0014759	intellectual disability, autosomal recessive 51	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.
http://purl.obolibrary.org/obo/MONDO_0014762	heterotaxy, visceral, 7, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.
http://purl.obolibrary.org/obo/MONDO_0014764	spastic paraplegia-severe developmental delay-epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.
http://purl.obolibrary.org/obo/MONDO_0014765	wooly hair, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.
http://purl.obolibrary.org/obo/MONDO_0014767	Seckel syndrome 9	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.
http://purl.obolibrary.org/obo/MONDO_0014772	orofacial cleft 15	http://purl.obolibrary.org/obo/MONDO_0016044	cleft lip/palate		Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.
http://purl.obolibrary.org/obo/MONDO_0014773	cardiac anomalies - developmental delay - facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features, such as cardiac defects.
http://purl.obolibrary.org/obo/MONDO_0014775	combined oxidative phosphorylation deficiency 28	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.
http://purl.obolibrary.org/obo/MONDO_0014777	hypotonia, infantile, with psychomotor retardation and characteristic facies 2	http://purl.obolibrary.org/obo/MONDO_0014176	hypotonia, infantile, with psychomotor retardation and characteristic facies		Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.
http://purl.obolibrary.org/obo/MONDO_0014779	Wilms tumor 6	http://purl.obolibrary.org/obo/MONDO_0003321	hereditary Wilms tumor		Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.
http://purl.obolibrary.org/obo/MONDO_0014780	hyperphosphatasia with intellectual disability syndrome 6	http://purl.obolibrary.org/obo/MONDO_0016596	hyperphosphatasia-intellectual disability syndrome		Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.
http://purl.obolibrary.org/obo/MONDO_0014781	combined oxidative phosphorylation deficiency 29	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.
http://purl.obolibrary.org/obo/MONDO_0014784	severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.
http://purl.obolibrary.org/obo/MONDO_0014785	microcephaly, short stature, and impaired glucose metabolism 2	http://purl.obolibrary.org/obo/MONDO_0800450	microcephaly, short stature, and impaired glucose metabolism		Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.
http://purl.obolibrary.org/obo/MONDO_0014786	IgA nephropathy, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0100555	IgA nephropathy, susceptibility to		Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.
http://purl.obolibrary.org/obo/MONDO_0014794	Meier-Gorlin syndrome 6	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.
http://purl.obolibrary.org/obo/MONDO_0014802	Cowden syndrome 7	http://purl.obolibrary.org/obo/MONDO_0016063	Cowden disease		Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.
http://purl.obolibrary.org/obo/MONDO_0014805	Hao-Fountain syndrome	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus).
http://purl.obolibrary.org/obo/MONDO_0014806	spinal muscular atrophy with congenital bone fractures 1	http://purl.obolibrary.org/obo/MONDO_0000209	prenatal-onset spinal muscular atrophy with congenital bone fractures		Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.
http://purl.obolibrary.org/obo/MONDO_0014807	spinal muscular atrophy with congenital bone fractures 2	http://purl.obolibrary.org/obo/MONDO_0000209	prenatal-onset spinal muscular atrophy with congenital bone fractures		Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.
http://purl.obolibrary.org/obo/MONDO_0014809	DDX41-related hematologic malignancy predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.
http://purl.obolibrary.org/obo/MONDO_0014810	pancytopenia due to IKZF1 mutations	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.
http://purl.obolibrary.org/obo/MONDO_0014815	intellectual disability, autosomal recessive 52	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.
http://purl.obolibrary.org/obo/MONDO_0014817	nephrotic syndrome, type 12	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.
http://purl.obolibrary.org/obo/MONDO_0014818	nephrotic syndrome, type 13	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.
http://purl.obolibrary.org/obo/MONDO_0014822	15q14 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0014823	hypotonia, infantile, with psychomotor retardation and characteristic facies 3	http://purl.obolibrary.org/obo/MONDO_0014176	hypotonia, infantile, with psychomotor retardation and characteristic facies		A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.
http://purl.obolibrary.org/obo/MONDO_0014835	striatal degeneration, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0000211	striatal degeneration, autosomal dominant		Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.
http://purl.obolibrary.org/obo/MONDO_0014838	Coffin-Siris syndrome 5	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.
http://purl.obolibrary.org/obo/MONDO_0014840	agammaglobulinemia 8, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia		Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.
http://purl.obolibrary.org/obo/MONDO_0014841	trichothiodystrophy 6, nonphotosensitive	http://purl.obolibrary.org/obo/MONDO_0018053	trichothiodystrophy		Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.
http://purl.obolibrary.org/obo/MONDO_0014842	intellectual disability, autosomal dominant 41	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.
http://purl.obolibrary.org/obo/MONDO_0014843	premature ovarian failure 11	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.
http://purl.obolibrary.org/obo/MONDO_0014844	premature ovarian failure 12	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.
http://purl.obolibrary.org/obo/MONDO_0014845	spinocerebellar ataxia, autosomal recessive 22	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.
http://purl.obolibrary.org/obo/MONDO_0014847	spermatogenic failure 15	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.
http://purl.obolibrary.org/obo/MONDO_0014851	hypercalcemia, infantile, 2	http://purl.obolibrary.org/obo/MONDO_0000212	hypercalcemia, infantile		Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.
http://purl.obolibrary.org/obo/MONDO_0014855	intellectual disability, autosomal dominant 42	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.
http://purl.obolibrary.org/obo/MONDO_0014856	combined oxidative phosphorylation defect type 30	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.
http://purl.obolibrary.org/obo/MONDO_0014858	intellectual disability, autosomal dominant 43	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.
http://purl.obolibrary.org/obo/MONDO_0014859	developmental and epileptic encephalopathy, 37	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.
http://purl.obolibrary.org/obo/MONDO_0014860	polycystic liver disease 2	http://purl.obolibrary.org/obo/MONDO_0000447	autosomal dominant polycystic liver disease		Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.
http://purl.obolibrary.org/obo/MONDO_0014861	autoimmune disease, multisystem, infantile-onset, 2	http://purl.obolibrary.org/obo/MONDO_0000213	autoimmune disease, multisystem, infantile-onset		Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.
http://purl.obolibrary.org/obo/MONDO_0014862	cerebral palsy, spastic quadriplegic, 3	http://purl.obolibrary.org/obo/MONDO_0100516	complex neurodevelopmental disorder with motor features		Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.
http://purl.obolibrary.org/obo/MONDO_0014864	hypermanganesemia with dystonia 2	http://purl.obolibrary.org/obo/MONDO_0000214	hypermanganesemia with dystonia		Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.
http://purl.obolibrary.org/obo/MONDO_0014867	spinocerebellar ataxia 43	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.
http://purl.obolibrary.org/obo/MONDO_0014868	developmental and epileptic encephalopathy, 38	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.
http://purl.obolibrary.org/obo/MONDO_0014870	NEK9-related lethal skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
http://purl.obolibrary.org/obo/MONDO_0014873	nevus comedonicus syndrome	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.
http://purl.obolibrary.org/obo/MONDO_0014874	pontocerebellar hypoplasia, type 2F	http://purl.obolibrary.org/obo/MONDO_0016759	pontocerebellar hypoplasia type 2		Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.
http://purl.obolibrary.org/obo/MONDO_0014876	intellectual disability, autosomal recessive 54	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.
http://purl.obolibrary.org/obo/MONDO_0014877	myopathy, distal, 5	http://purl.obolibrary.org/obo/MONDO_0018949	distal myopathy		Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.
http://purl.obolibrary.org/obo/MONDO_0014880	Duane retraction syndrome 3 with or without deafness	http://purl.obolibrary.org/obo/MONDO_0007473	Duane retraction syndrome		Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.
http://purl.obolibrary.org/obo/MONDO_0014884	cholestasis, progressive familial intrahepatic, 5	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.
http://purl.obolibrary.org/obo/MONDO_0014885	Hermansky-Pudlak syndrome 10	http://purl.obolibrary.org/obo/MONDO_0019312	Hermansky-Pudlak syndrome		Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.
http://purl.obolibrary.org/obo/MONDO_0014887	bone marrow failure syndrome 3	http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome		Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.
http://purl.obolibrary.org/obo/MONDO_0014888	MIRAGE syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.
http://purl.obolibrary.org/obo/MONDO_0014890	PERCHING syndrome	http://purl.obolibrary.org/obo/MONDO_0015526	cold-induced sweating syndrome		Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.
http://purl.obolibrary.org/obo/MONDO_0014891	hyperuricemic nephropathy, familial juvenile type 4	http://purl.obolibrary.org/obo/MONDO_0100337	SEC61A1 deficiency		Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.
http://purl.obolibrary.org/obo/MONDO_0014894	Meier-Gorlin syndrome 7	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.
http://purl.obolibrary.org/obo/MONDO_0014895	developmental and epileptic encephalopathy, 40	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.
http://purl.obolibrary.org/obo/MONDO_0014898	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions		Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.
http://purl.obolibrary.org/obo/MONDO_0014899	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	http://purl.obolibrary.org/obo/MONDO_0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions		An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
http://purl.obolibrary.org/obo/MONDO_0014901	tooth agenesis, selective, 8	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.
http://purl.obolibrary.org/obo/MONDO_0014902	nasopharyngeal carcinoma, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.
http://purl.obolibrary.org/obo/MONDO_0014903	seizures, benign familial infantile, 5	http://purl.obolibrary.org/obo/MONDO_0017615	benign familial infantile epilepsy		Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.
http://purl.obolibrary.org/obo/MONDO_0014906	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.
http://purl.obolibrary.org/obo/MONDO_0014908	microcephaly 17, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.
http://purl.obolibrary.org/obo/MONDO_0014911	growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0014914	Dias-Logan syndrome	http://purl.obolibrary.org/obo/MONDO_0700120	BAFopathy		Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.
http://purl.obolibrary.org/obo/MONDO_0014916	developmental and epileptic encephalopathy, 41	http://purl.obolibrary.org/obo/MONDO_0800491	early-infantile DEE		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.
http://purl.obolibrary.org/obo/MONDO_0014917	developmental and epileptic encephalopathy, 42	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.
http://purl.obolibrary.org/obo/MONDO_0014921	developmental and epileptic encephalopathy, 43	http://purl.obolibrary.org/obo/MONDO_0016532	Lennox-Gastaut syndrome		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.
http://purl.obolibrary.org/obo/MONDO_0014922	myofibrillar myopathy 7	http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy		Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.
http://purl.obolibrary.org/obo/MONDO_0014923	peeling skin syndrome 5	http://purl.obolibrary.org/obo/MONDO_0019347	peeling skin syndrome		Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.
http://purl.obolibrary.org/obo/MONDO_0014924	epilepsy, familial focal, with variable foci 2	http://purl.obolibrary.org/obo/MONDO_0020310	familial focal epilepsy with variable foci		Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.
http://purl.obolibrary.org/obo/MONDO_0014925	epilepsy, familial focal, with variable foci 3	http://purl.obolibrary.org/obo/MONDO_0020310	familial focal epilepsy with variable foci		Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.
http://purl.obolibrary.org/obo/MONDO_0014926	Bardet-Biedl syndrome 22	http://purl.obolibrary.org/obo/MONDO_1060191	ciliopathy-IFT74		Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.
http://purl.obolibrary.org/obo/MONDO_0014929	retinitis pigmentosa 76	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.
http://purl.obolibrary.org/obo/MONDO_0014930	intellectual disability, autosomal recessive 56	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.
http://purl.obolibrary.org/obo/MONDO_0014933	developmental and epileptic encephalopathy, 44	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.
http://purl.obolibrary.org/obo/MONDO_0014934	spinocerebellar ataxia, autosomal recessive 24	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.
http://purl.obolibrary.org/obo/MONDO_0014935	frontometaphyseal dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0015942	frontometaphyseal dysplasia		Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.
http://purl.obolibrary.org/obo/MONDO_0014938	aniridia 3	http://purl.obolibrary.org/obo/MONDO_0007119	isolated aniridia		Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.
http://purl.obolibrary.org/obo/MONDO_0014942	developmental and epileptic encephalopathy, 45	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.
http://purl.obolibrary.org/obo/MONDO_0014943	mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.
http://purl.obolibrary.org/obo/MONDO_0014946	Sifrim-Hitz-Weiss syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare multiple congenital anomalies/dysmorphic syndrome due to CHD4 gene mutations. It is characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence). Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males).
http://purl.obolibrary.org/obo/MONDO_0014947	developmental and epileptic encephalopathy, 46	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.
http://purl.obolibrary.org/obo/MONDO_0014949	developmental and epileptic encephalopathy, 47	http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.
http://purl.obolibrary.org/obo/MONDO_0014950	aortic aneurysm, familial thoracic 10	http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection		Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.
http://purl.obolibrary.org/obo/MONDO_0014951	intellectual developmental disorder, autosomal recessive 74	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.
http://purl.obolibrary.org/obo/MONDO_0014958	Harel-Yoon syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0014961	spermatogenic failure 16	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.
http://purl.obolibrary.org/obo/MONDO_0014962	intellectual disability, autosomal recessive 57	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.
http://purl.obolibrary.org/obo/MONDO_0014965	lethal congenital contracture syndrome 11	http://purl.obolibrary.org/obo/MONDO_0017436	lethal congenital contracture syndrome		Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.
http://purl.obolibrary.org/obo/MONDO_0014966	periventricular nodular heterotopia 7	http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia		Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.
http://purl.obolibrary.org/obo/MONDO_0014967	heterotaxy, visceral, 8, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.
http://purl.obolibrary.org/obo/MONDO_0014970	spermatogenic failure 17	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.
http://purl.obolibrary.org/obo/MONDO_0014972	chromosome 19q13.11 deletion syndrome, proximal	http://purl.obolibrary.org/obo/MONDO_0013090	chromosome 19q13.11 deletion syndrome		Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.
http://purl.obolibrary.org/obo/MONDO_0014975	autosomal recessive spastic paraplegia type 78	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.
http://purl.obolibrary.org/obo/MONDO_0014976	lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.
http://purl.obolibrary.org/obo/MONDO_0014977	autosomal recessive limb-girdle muscular dystrophy type 2R1	http://purl.obolibrary.org/obo/MONDO_0017741	disorder of protein O-glycosylation		An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.
http://purl.obolibrary.org/obo/MONDO_0014979	myoclonus, intractable, neonatal	http://purl.obolibrary.org/obo/MONDO_0100629	KIF5A-related neurological disorder		A severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth.
http://purl.obolibrary.org/obo/MONDO_0014981	immunodeficiency 49	http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency		Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.
http://purl.obolibrary.org/obo/MONDO_0014982	myopia 25, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.
http://purl.obolibrary.org/obo/MONDO_0014989	uncombable hair syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008621	uncombable hair syndrome		Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.
http://purl.obolibrary.org/obo/MONDO_0014990	uncombable hair syndrome 3	http://purl.obolibrary.org/obo/MONDO_0008621	uncombable hair syndrome		Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.
http://purl.obolibrary.org/obo/MONDO_0014991	Seckel syndrome 10	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.
http://purl.obolibrary.org/obo/MONDO_0014992	lissencephaly 8	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.
http://purl.obolibrary.org/obo/MONDO_0014993	myofibrillar myopathy 8	http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy		Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.
http://purl.obolibrary.org/obo/MONDO_0014996	intellectual disability, autosomal recessive 58	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.
http://purl.obolibrary.org/obo/MONDO_0014999	tooth agenesis, selective, 9	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.
http://purl.obolibrary.org/obo/MONDO_0015000	developmental and epileptic encephalopathy, 48	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.
http://purl.obolibrary.org/obo/MONDO_0015001	atrial fibrillation, familial, 18	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.
http://purl.obolibrary.org/obo/MONDO_0015002	developmental and epileptic encephalopathy, 49	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.
http://purl.obolibrary.org/obo/MONDO_0015004	dystonia 28, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.
http://purl.obolibrary.org/obo/MONDO_0015005	epilepsy, early-onset, vitamin B6-dependent	http://purl.obolibrary.org/obo/MONDO_0957599	epilepsy, early-onset		A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
http://purl.obolibrary.org/obo/MONDO_0015010	atypical glycine encephalopathy	http://purl.obolibrary.org/obo/MONDO_0011612	glycine encephalopathy		Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
http://purl.obolibrary.org/obo/MONDO_0015011	optic atrophy 11	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.
http://purl.obolibrary.org/obo/MONDO_0015013	retinitis pigmentosa 77	http://purl.obolibrary.org/obo/MONDO_1040066	REEP6-related retinopathy		Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.
http://purl.obolibrary.org/obo/MONDO_0015017	anterior segment dysgenesis 8	http://purl.obolibrary.org/obo/MONDO_0019503	anterior segment dysgenesis		Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.
http://purl.obolibrary.org/obo/MONDO_0015018	ichthyosis, congenital, autosomal recessive 12	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.
http://purl.obolibrary.org/obo/MONDO_0015019	Yao syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants.
http://purl.obolibrary.org/obo/MONDO_0015020	intellectual disability, autosomal recessive 59	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.
http://purl.obolibrary.org/obo/MONDO_0015024	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.
http://purl.obolibrary.org/obo/MONDO_0015025	developmental and epileptic encephalopathy, 51	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.
http://purl.obolibrary.org/obo/MONDO_0015026	cerebroretinal microangiopathy with calcifications and cysts 2	http://purl.obolibrary.org/obo/MONDO_0012815	Coats plus syndrome		Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.
http://purl.obolibrary.org/obo/MONDO_0015031	extraneural perineurioma	http://purl.obolibrary.org/obo/MONDO_0019404	perineurioma		Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.
http://purl.obolibrary.org/obo/MONDO_0015033	ABeta amyloidosis, dutch type	http://purl.obolibrary.org/obo/MONDO_0011583	cerebral amyloid angiopathy, APP-related		Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.
http://purl.obolibrary.org/obo/MONDO_0015034	lissencephaly with cerebellar hypoplasia type A	http://purl.obolibrary.org/obo/MONDO_0019450	lissencephaly with cerebellar hypoplasia		Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernible gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0015035	lissencephaly with cerebellar hypoplasia type B	http://purl.obolibrary.org/obo/MONDO_0019450	lissencephaly with cerebellar hypoplasia		Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.
http://purl.obolibrary.org/obo/MONDO_0015036	lissencephaly with cerebellar hypoplasia type C	http://purl.obolibrary.org/obo/MONDO_0019450	lissencephaly with cerebellar hypoplasia		Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
http://purl.obolibrary.org/obo/MONDO_0015037	lissencephaly with cerebellar hypoplasia type D	http://purl.obolibrary.org/obo/MONDO_0019450	lissencephaly with cerebellar hypoplasia		Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
http://purl.obolibrary.org/obo/MONDO_0015038	lissencephaly with cerebellar hypoplasia type E	http://purl.obolibrary.org/obo/MONDO_0019450	lissencephaly with cerebellar hypoplasia		Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.
http://purl.obolibrary.org/obo/MONDO_0015039	lissencephaly with cerebellar hypoplasia type F	http://purl.obolibrary.org/obo/MONDO_0019450	lissencephaly with cerebellar hypoplasia		Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
http://purl.obolibrary.org/obo/MONDO_0015040	myelodysplastic syndrome with excess blasts-1	http://purl.obolibrary.org/obo/MONDO_0019454	myelodysplastic syndrome with excess blasts		A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)
http://purl.obolibrary.org/obo/MONDO_0015041	myelodysplastic syndrome with excess blasts-2	http://purl.obolibrary.org/obo/MONDO_0019454	myelodysplastic syndrome with excess blasts		A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)
http://purl.obolibrary.org/obo/MONDO_0015044	mu-heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0019464	heavy chain disease		Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).
http://purl.obolibrary.org/obo/MONDO_0015045	alpha-heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0019464	heavy chain disease		Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
http://purl.obolibrary.org/obo/MONDO_0015046	gamma-heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0019464	heavy chain disease		Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
http://purl.obolibrary.org/obo/MONDO_0015049	solitary necrotic nodule of the liver	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.
http://purl.obolibrary.org/obo/MONDO_0015050	esophageal duplication cyst	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		A rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015051	tubular duplication of the esophagus	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.
http://purl.obolibrary.org/obo/MONDO_0015053	hereditary angioedema type 1	http://purl.obolibrary.org/obo/MONDO_0033946	hereditary angioedema with C1Inh deficiency		Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
http://purl.obolibrary.org/obo/MONDO_0015054	hereditary angioedema type 2	http://purl.obolibrary.org/obo/MONDO_0033946	hereditary angioedema with C1Inh deficiency		Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
http://purl.obolibrary.org/obo/MONDO_0015055	acquired angioedema type 2	http://purl.obolibrary.org/obo/MONDO_0019624	acquired angioedema		Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
http://purl.obolibrary.org/obo/MONDO_0015056	acquired angioedema type 1	http://purl.obolibrary.org/obo/MONDO_0019624	acquired angioedema		Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
http://purl.obolibrary.org/obo/MONDO_0015057	renin-angiotensin-aldosterone system-blocker-induced angioedema	http://purl.obolibrary.org/obo/MONDO_0019624	acquired angioedema		Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
http://purl.obolibrary.org/obo/MONDO_0015060	mosaic trisomy 3	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
http://purl.obolibrary.org/obo/MONDO_0015061	neurogenic thoracic outlet syndrome	http://purl.obolibrary.org/obo/MONDO_0005979	thoracic outlet syndrome		Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.
http://purl.obolibrary.org/obo/MONDO_0015062	gastric neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0003111	gastric neuroendocrine neoplasm		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach.
http://purl.obolibrary.org/obo/MONDO_0015063	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0002995	small intestine neuroendocrine tumor, well differentiated, low or intermediate grade		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum.
http://purl.obolibrary.org/obo/MONDO_0015064	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0002995	small intestine neuroendocrine tumor, well differentiated, low or intermediate grade		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum.
http://purl.obolibrary.org/obo/MONDO_0015065	ileal neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0006801	ileal neoplasm		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum.
http://purl.obolibrary.org/obo/MONDO_0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0018511	epithelial tumor of the appendix		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix.
http://purl.obolibrary.org/obo/MONDO_0015067	neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor	http://purl.obolibrary.org/obo/MONDO_0024479	epithelial tumor of colon		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon.
http://purl.obolibrary.org/obo/MONDO_0015068	rectal neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0003646	rectum neuroendocrine neoplasm		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.
http://purl.obolibrary.org/obo/MONDO_0015069	neuroendocrine tumor of the anal canal	http://purl.obolibrary.org/obo/MONDO_0015068	rectal neuroendocrine tumor		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal.
http://purl.obolibrary.org/obo/MONDO_0015071	middle ear neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021366	neoplasm of middle ear		A neuroendocrine neoplasm that involves the middle ear.
http://purl.obolibrary.org/obo/MONDO_0015072	liver neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0018531	carcinoma of liver and intrahepatic biliary tract		An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.
http://purl.obolibrary.org/obo/MONDO_0015073	gallbladder neuroendocrine tumor, grade 1/2	http://purl.obolibrary.org/obo/MONDO_0024502	gallbladder neuroendocrine neoplasm		A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder.
http://purl.obolibrary.org/obo/MONDO_0015074	thyroid tumor	http://purl.obolibrary.org/obo/MONDO_0003240	thyroid gland disorder		A benign or malignant neoplasm affecting the thyroid gland.
http://purl.obolibrary.org/obo/MONDO_0015084	FRAXF syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
http://purl.obolibrary.org/obo/MONDO_0015085	bathing suit ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.
http://purl.obolibrary.org/obo/MONDO_0015103	pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome	http://purl.obolibrary.org/obo/MONDO_0020064	pulmonary valve agenesis		Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.
http://purl.obolibrary.org/obo/MONDO_0015128	primary adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0000004	adrenocortical insufficiency		A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.
http://purl.obolibrary.org/obo/MONDO_0015137	periodic fever syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		Fevers of unknown etiology recurring over months or years.
http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		A hereditary spastic paraplegia that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015164	acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	http://purl.obolibrary.org/obo/MONDO_0019457	therapy related acute myeloid leukemia and myelodysplastic syndrome		Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).
http://purl.obolibrary.org/obo/MONDO_0015165	acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	http://purl.obolibrary.org/obo/MONDO_0019457	therapy related acute myeloid leukemia and myelodysplastic syndrome		Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.
http://purl.obolibrary.org/obo/MONDO_0015169	chronic diarrhea due to glucoamylase deficiency	http://purl.obolibrary.org/obo/MONDO_0044751	chronic diarrheal disease		This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency.
http://purl.obolibrary.org/obo/MONDO_0015171	congenital enterocyte heparan sulfate deficiency	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life.
http://purl.obolibrary.org/obo/MONDO_0015175	autoimmune pancreatitis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.
http://purl.obolibrary.org/obo/MONDO_0015176	undetermined colitis	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.
http://purl.obolibrary.org/obo/MONDO_0015195	atresia of urethra	http://purl.obolibrary.org/obo/MONDO_0018559	fetal lower urinary tract obstruction		Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.
http://purl.obolibrary.org/obo/MONDO_0015198	aniridia-ptosis-intellectual disability-familial obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
http://purl.obolibrary.org/obo/MONDO_0015201	ankyloblepharon filiforme-imperforate anus syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation	http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease		A coronary artery disorder characterized by abnormal origin, course, or structure of one or more coronary arteries present at birth.
http://purl.obolibrary.org/obo/MONDO_0015205	isolated lissencephaly type 1 without known genetic defects	http://purl.obolibrary.org/obo/MONDO_0015146	classic lissencephaly		Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
http://purl.obolibrary.org/obo/MONDO_0015230	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0015235	arachnodactyly-intellectual disability-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.
http://purl.obolibrary.org/obo/MONDO_0015241	arthrogryposis-like syndrome	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0015248	ataxia-photosensitivity-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
http://purl.obolibrary.org/obo/MONDO_0015249	mitral atresia disorder	http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease		A congenital heart defect characterized by the complete atresia of the mitral valve.
http://purl.obolibrary.org/obo/MONDO_0015265	bronchiolitis obliterans syndrome	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.
http://purl.obolibrary.org/obo/MONDO_0015271	idiopathic camptocormia	http://purl.obolibrary.org/obo/MONDO_0016105	acquired skeletal muscle disease		Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.
http://purl.obolibrary.org/obo/MONDO_0015272	camptodactyly-taurinuria syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
http://purl.obolibrary.org/obo/MONDO_0015274	chronic beryllium disease	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.
http://purl.obolibrary.org/obo/MONDO_0015277	medullary thyroid gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0005034	thyroid gland follicular carcinoma		A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.
http://purl.obolibrary.org/obo/MONDO_0015283	maternally-inherited cardiomyopathy and hearing loss	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
http://purl.obolibrary.org/obo/MONDO_0015289	infectious epithelial keratitis	http://purl.obolibrary.org/obo/MONDO_0023865	corneal infection		Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.
http://purl.obolibrary.org/obo/MONDO_0015290	neurotrophic keratopathy	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.
http://purl.obolibrary.org/obo/MONDO_0015291	stromal keratitis	http://purl.obolibrary.org/obo/MONDO_0015288	herpes simplex virus keratitis		Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.
http://purl.obolibrary.org/obo/MONDO_0015292	endotheliitis	http://purl.obolibrary.org/obo/MONDO_0015288	herpes simplex virus keratitis		An inflammatory disease involving a pathogenic inflammatory response in the endothelium.
http://purl.obolibrary.org/obo/MONDO_0015293	segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.
http://purl.obolibrary.org/obo/MONDO_0015295	intractable diarrhea-choanal atresia-eye anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.
http://purl.obolibrary.org/obo/MONDO_0015296	cardiac anomalies-heterotaxy syndrome	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.
http://purl.obolibrary.org/obo/MONDO_0015302	nodular cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0015301	primary cutaneous amyloidosis		Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.
http://purl.obolibrary.org/obo/MONDO_0015303	macular amyloidosis	http://purl.obolibrary.org/obo/MONDO_0015301	primary cutaneous amyloidosis		Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.
http://purl.obolibrary.org/obo/MONDO_0015308	laminopathy type Decaudain-Vigouroux	http://purl.obolibrary.org/obo/MONDO_0021187	hyperlipidemia		Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.
http://purl.obolibrary.org/obo/MONDO_0015311	autism-facial port-wine stain syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions.
http://purl.obolibrary.org/obo/MONDO_0015312	choanal atresia, unilateral	http://purl.obolibrary.org/obo/MONDO_0012155	choanal atresia		Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.
http://purl.obolibrary.org/obo/MONDO_0015313	choanal atresia, bilateral	http://purl.obolibrary.org/obo/MONDO_0012155	choanal atresia		Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.
http://purl.obolibrary.org/obo/MONDO_0015314	primary laryngeal lymphangioma	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.
http://purl.obolibrary.org/obo/MONDO_0015315	neonatal brainstem dysfunction	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.
http://purl.obolibrary.org/obo/MONDO_0015339	adrenomyeloneuropathy	http://purl.obolibrary.org/obo/MONDO_0018544	adrenoleukodystrophy		An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.
http://purl.obolibrary.org/obo/MONDO_0015341	congenital panfollicular nevus	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.
http://purl.obolibrary.org/obo/MONDO_0015344	idiopathic acute transverse myelitis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.
http://purl.obolibrary.org/obo/MONDO_0015345	perioral myoclonia with absences	http://purl.obolibrary.org/obo/MONDO_0020072	childhood-onset epilepsy syndrome		Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.
http://purl.obolibrary.org/obo/MONDO_0015346	epilepsy with eyelid myoclonia	http://purl.obolibrary.org/obo/MONDO_0800498	childhood-onset genetic generalized epilepsy syndrome		A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.
http://purl.obolibrary.org/obo/MONDO_0015348	leukoencephalopathy with bilateral anterior temporal lobe cysts	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.
http://purl.obolibrary.org/obo/MONDO_0015349	progressive cavitating leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.
http://purl.obolibrary.org/obo/MONDO_0015350	17q11.2 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016967	partial duplication of the long arm of chromosome 17		17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0015351	neuropathy with hearing impairment	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0015354	hereditary sensory and autonomic neuropathy with deafness and global delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.
http://purl.obolibrary.org/obo/MONDO_0015371	linear atrophoderma of Moulin	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.
http://purl.obolibrary.org/obo/MONDO_0015379	cervical dermoid cyst	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.
http://purl.obolibrary.org/obo/MONDO_0015380	facial dermoid cyst	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.
http://purl.obolibrary.org/obo/MONDO_0015381	commissural lip fistula	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		A rare otorhinolaryngologic disease characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.
http://purl.obolibrary.org/obo/MONDO_0015382	lower lip fistula	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		A rare otorhinolaryngologic disease characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur.
http://purl.obolibrary.org/obo/MONDO_0015384	digestive duplication cyst of the tongue	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.
http://purl.obolibrary.org/obo/MONDO_0015386	epignathus	http://purl.obolibrary.org/obo/MONDO_0019500	extragonadal teratoma		Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.
http://purl.obolibrary.org/obo/MONDO_0015388	polyrrhinia	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.
http://purl.obolibrary.org/obo/MONDO_0015389	supernumerary nostril	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.
http://purl.obolibrary.org/obo/MONDO_0015390	proboscis lateralis	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.
http://purl.obolibrary.org/obo/MONDO_0015391	nasopharyngeal teratoma	http://purl.obolibrary.org/obo/MONDO_0019500	extragonadal teratoma		A teratoma that involves the nasopharynx.
http://purl.obolibrary.org/obo/MONDO_0015392	nasal glial heterotopia	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.
http://purl.obolibrary.org/obo/MONDO_0015393	nasal ganglioglioma	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.
http://purl.obolibrary.org/obo/MONDO_0015394	nasal encephalocele	http://purl.obolibrary.org/obo/MONDO_0016057	isolated encephalocele		Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0015396	congenital laryngeal cyst	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.
http://purl.obolibrary.org/obo/MONDO_0015399	glossopalatine ankylosis	http://purl.obolibrary.org/obo/MONDO_0017139	oromandibular-limb hypogenesis syndrome		Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.
http://purl.obolibrary.org/obo/MONDO_0015400	frontonasal arteriovenous malformation	http://purl.obolibrary.org/obo/MONDO_0015500	facial arteriovenous malformation		Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.
http://purl.obolibrary.org/obo/MONDO_0015401	maxillary arteriovenous malformation	http://purl.obolibrary.org/obo/MONDO_0015500	facial arteriovenous malformation		Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.
http://purl.obolibrary.org/obo/MONDO_0015402	mandibular arteriovenous malformation	http://purl.obolibrary.org/obo/MONDO_0015500	facial arteriovenous malformation		Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.
http://purl.obolibrary.org/obo/MONDO_0015404	rapidly involuting congenital hemangioma	http://purl.obolibrary.org/obo/MONDO_0018715	congenital hemangioma		Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution.
http://purl.obolibrary.org/obo/MONDO_0015405	cerebrofacial arteriovenous metameric syndrome	http://purl.obolibrary.org/obo/MONDO_0001256	arteriovenous hemangioma/malformation		A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region.
http://purl.obolibrary.org/obo/MONDO_0015408	diffuse lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0002013	lymphangioma		A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.
http://purl.obolibrary.org/obo/MONDO_0015409	isolated congenital syngnathia	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.
http://purl.obolibrary.org/obo/MONDO_0015410	nasal dorsum fistula/cyst	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		A rare otorhinolaryngologic disease characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.
http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.
http://purl.obolibrary.org/obo/MONDO_0015413	median cleft of the upper lip and maxilla	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.
http://purl.obolibrary.org/obo/MONDO_0015414	paramedian nasal cleft	http://purl.obolibrary.org/obo/MONDO_0008866	bifid nose, autosomal recessive		Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.
http://purl.obolibrary.org/obo/MONDO_0015419	midline cervical cleft	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.
http://purl.obolibrary.org/obo/MONDO_0015421	orofaciodigital syndrome type 12	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.
http://purl.obolibrary.org/obo/MONDO_0015425	lethal recessive chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.
http://purl.obolibrary.org/obo/MONDO_0015445	autosomal dominant coarctation of aorta	http://purl.obolibrary.org/obo/MONDO_0007345	aorta coarctation		Autosomal dominant form of aorta coarctation.
http://purl.obolibrary.org/obo/MONDO_0015446	atypical coarctation of aorta	http://purl.obolibrary.org/obo/MONDO_0007345	aorta coarctation		Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).
http://purl.obolibrary.org/obo/MONDO_0015450	triatrial heart	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.
http://purl.obolibrary.org/obo/MONDO_0015451	univentricular heart	http://purl.obolibrary.org/obo/MONDO_0019820	univentricular cardiopathy		Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.
http://purl.obolibrary.org/obo/MONDO_0015458	intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0015463	craniodigital syndrome-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0015464	craniofrontonasal dysplasia-Poland anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0016643	frontonasal dysplasia		Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.
http://purl.obolibrary.org/obo/MONDO_0015467	craniosynostosis, Philadelphia type	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.
http://purl.obolibrary.org/obo/MONDO_0015471	benign focal seizures of adolescence	http://purl.obolibrary.org/obo/MONDO_0015650	epilepsy syndrome		A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.
http://purl.obolibrary.org/obo/MONDO_0015473	cryptorchidism-arachnodactyly-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.
http://purl.obolibrary.org/obo/MONDO_0015477	pinnae fistula or cyst	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		A rare otorhinolaryngological disease characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.
http://purl.obolibrary.org/obo/MONDO_0015480	coloboma of superior eyelid	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.
http://purl.obolibrary.org/obo/MONDO_0015481	coloboma of inferior eyelid	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.
http://purl.obolibrary.org/obo/MONDO_0015494	isolated dystonia	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		A dystonia (disease) that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015516	symbrachydactyly of hands and feet	http://purl.obolibrary.org/obo/MONDO_0017424	non-syndromic brachydactyly		A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
http://purl.obolibrary.org/obo/MONDO_0015536	papular xanthoma	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.
http://purl.obolibrary.org/obo/MONDO_0015538	indeterminate dendritic cell tumor	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.
http://purl.obolibrary.org/obo/MONDO_0015539	progressive nodular histiocytosis	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.
http://purl.obolibrary.org/obo/MONDO_0015540	hemophagocytic syndrome	http://purl.obolibrary.org/obo/MONDO_0005833	lymphatic system disorder		Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).
http://purl.obolibrary.org/obo/MONDO_0015542	secondary hemophagocytic lymphohistiocytosis	http://purl.obolibrary.org/obo/MONDO_0015540	hemophagocytic syndrome		Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.
http://purl.obolibrary.org/obo/MONDO_0015546	non-distal monosomy 10q	http://purl.obolibrary.org/obo/MONDO_0016909	partial monosomy of the long arm of chromosome 10		Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
http://purl.obolibrary.org/obo/MONDO_0015552	acral dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.
http://purl.obolibrary.org/obo/MONDO_0015553	dystrophic epidermolysis bullosa, nails only	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.
http://purl.obolibrary.org/obo/MONDO_0015557	Smouldering systemic mastocytosis	http://purl.obolibrary.org/obo/MONDO_0020331	indolent systemic mastocytosis		Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.
http://purl.obolibrary.org/obo/MONDO_0015562	distal monosomy 17q	http://purl.obolibrary.org/obo/MONDO_0016915	partial deletion of the long arm of chromosome 17		Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).
http://purl.obolibrary.org/obo/MONDO_0015564	Castleman disease	http://purl.obolibrary.org/obo/MONDO_0016537	lymphoproliferative syndrome		Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.
http://purl.obolibrary.org/obo/MONDO_0015565	cap polyposis	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.
http://purl.obolibrary.org/obo/MONDO_0015567	cataract-glaucoma syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.
http://purl.obolibrary.org/obo/MONDO_0015570	isolated congenital auditory ossicle malformation	http://purl.obolibrary.org/obo/MONDO_0015604	middle ear anomaly		Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance.
http://purl.obolibrary.org/obo/MONDO_0015573	subacute cutaneous lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced.
http://purl.obolibrary.org/obo/MONDO_0015574	chronic cutaneous lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0005282	cutaneous lupus erythematosus		Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.
http://purl.obolibrary.org/obo/MONDO_0015579	Hb Bart's hydrops fetalis	http://purl.obolibrary.org/obo/MONDO_0100563	digenic alpha thalassemia spectrum		Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2).
http://purl.obolibrary.org/obo/MONDO_0015580	distal monosomy 7q36	http://purl.obolibrary.org/obo/MONDO_0016906	partial deletion of the long arm of chromosome 7		Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.
http://purl.obolibrary.org/obo/MONDO_0015583	2p21 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016884	partial deletion of the short arm of chromosome 2		The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.
http://purl.obolibrary.org/obo/MONDO_0015585	cryptogenic late-onset epileptic spasms	http://purl.obolibrary.org/obo/MONDO_0020072	childhood-onset epilepsy syndrome		Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.
http://purl.obolibrary.org/obo/MONDO_0015589	paraneoplastic limbic encephalitis	http://purl.obolibrary.org/obo/MONDO_0018215	paraneoplastic neurologic syndrome		A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.
http://purl.obolibrary.org/obo/MONDO_0015590	classic paraneoplastic limbic encephalitis	http://purl.obolibrary.org/obo/MONDO_0015589	paraneoplastic limbic encephalitis		Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.
http://purl.obolibrary.org/obo/MONDO_0015592	limbic encephalitis with LGI1 antibodies	http://purl.obolibrary.org/obo/MONDO_0020068	postinfectious encephalitis		Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.
http://purl.obolibrary.org/obo/MONDO_0015595	posttransplant acute limbic encephalitis	http://purl.obolibrary.org/obo/MONDO_0700220	disease related to transplantation		Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.
http://purl.obolibrary.org/obo/MONDO_0015596	non-herpetic acute limbic encephalitis	http://purl.obolibrary.org/obo/MONDO_0015588	limbic encephalitis		Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.
http://purl.obolibrary.org/obo/MONDO_0015597	palmoplantar pustulosis	http://purl.obolibrary.org/obo/MONDO_0022205	pustular psoriasis		A rare skin disease characterized by chronic eruption of sterile pustules on an erythematous and desquamative background, affecting the palms and soles, sometimes also the lateral aspects of hands and feet. The lesions are usually painful. Nail lesions (such as nail pitting, onycholysis, subungual pustules, and nail dystrophy) are also observed. The condition takes a chronic and relapsing course. Typical associations are psoriatic arthritis, thyroid gland dysfunction, and smoking.
http://purl.obolibrary.org/obo/MONDO_0015599	atopic keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.
http://purl.obolibrary.org/obo/MONDO_0015600	X-linked intellectual disability, Cilliers type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).
http://purl.obolibrary.org/obo/MONDO_0015601	X-linked intellectual disability, van Esch type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.
http://purl.obolibrary.org/obo/MONDO_0015605	distal monosomy 9p	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.
http://purl.obolibrary.org/obo/MONDO_0015608	acute myeloid leukemia and myelodysplastic syndromes related to radiation	http://purl.obolibrary.org/obo/MONDO_0019457	therapy related acute myeloid leukemia and myelodysplastic syndrome		Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.
http://purl.obolibrary.org/obo/MONDO_0015623	cavitary myiasis	http://purl.obolibrary.org/obo/MONDO_0019147	myiasis		Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.
http://purl.obolibrary.org/obo/MONDO_0015625	diazoxide-resistant diffuse hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0017186	diazoxide-resistant hyperinsulinism		Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.
http://purl.obolibrary.org/obo/MONDO_0015628	von Willebrand disease type 2A	http://purl.obolibrary.org/obo/MONDO_0013304	von Willebrand disease 2		Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.
http://purl.obolibrary.org/obo/MONDO_0015629	von Willebrand disease type 2B	http://purl.obolibrary.org/obo/MONDO_0013304	von Willebrand disease 2		A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.
http://purl.obolibrary.org/obo/MONDO_0015630	von Willebrand disease type 2M	http://purl.obolibrary.org/obo/MONDO_0013304	von Willebrand disease 2		A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.
http://purl.obolibrary.org/obo/MONDO_0015631	von Willebrand disease type 2N	http://purl.obolibrary.org/obo/MONDO_0013304	von Willebrand disease 2		Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).
http://purl.obolibrary.org/obo/MONDO_0015634	isolated osteopoikilosis	http://purl.obolibrary.org/obo/MONDO_0001414	osteopoikilosis		A osteopoikilosis (disease) that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015635	porokeratotic eccrine ostial and dermal duct nevus	http://purl.obolibrary.org/obo/MONDO_0024247	benign eccrine neoplasm		A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.
http://purl.obolibrary.org/obo/MONDO_0015638	benign partial epilepsy of infancy with complex partial seizures	http://purl.obolibrary.org/obo/MONDO_0015637	benign non-familial infantile seizures		Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.
http://purl.obolibrary.org/obo/MONDO_0015639	benign partial epilepsy with secondarily generalized seizures in infancy	http://purl.obolibrary.org/obo/MONDO_0015637	benign non-familial infantile seizures		Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.
http://purl.obolibrary.org/obo/MONDO_0015640	benign infantile seizures associated with mild gastroenteritis	http://purl.obolibrary.org/obo/MONDO_0015642	benign partial infantile seizures		Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.
http://purl.obolibrary.org/obo/MONDO_0015641	benign infantile focal epilepsy with midline spikes and wave during sleep	http://purl.obolibrary.org/obo/MONDO_0015642	benign partial infantile seizures		Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.
http://purl.obolibrary.org/obo/MONDO_0015644	audiogenic seizures	http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy		Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).
http://purl.obolibrary.org/obo/MONDO_0015645	eating seizures	http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy		A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.
http://purl.obolibrary.org/obo/MONDO_0015646	orgasm-induced seizures	http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy		Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.
http://purl.obolibrary.org/obo/MONDO_0015647	thinking seizures	http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy		Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.
http://purl.obolibrary.org/obo/MONDO_0015648	startle epilepsy	http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy		Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0015649	micturation-induced seizures	http://purl.obolibrary.org/obo/MONDO_0017768	reflex epilepsy		Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0015661	dextrocardia	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.
http://purl.obolibrary.org/obo/MONDO_0015666	familial idiopathic dilatation of the right atrium	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.
http://purl.obolibrary.org/obo/MONDO_0015672	diprosopus	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases.
http://purl.obolibrary.org/obo/MONDO_0015677	cardiac diverticulum	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.
http://purl.obolibrary.org/obo/MONDO_0015678	dysplasia of head of femur, Meyer type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.
http://purl.obolibrary.org/obo/MONDO_0015686	primary peritoneal carcinoma	http://purl.obolibrary.org/obo/MONDO_0002113	peritoneal carcinoma		A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.
http://purl.obolibrary.org/obo/MONDO_0015689	myeloid neoplasm associated with PDGFRA rearrangement	http://purl.obolibrary.org/obo/MONDO_0015688	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2		A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.
http://purl.obolibrary.org/obo/MONDO_0015690	myeloid neoplasm associated with PDGFRB rearrangement	http://purl.obolibrary.org/obo/MONDO_0015688	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2		A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.
http://purl.obolibrary.org/obo/MONDO_0015692	refractory anemia with excess blasts in transformation	http://purl.obolibrary.org/obo/MONDO_0004111	refractory hematologic cancer		Refractory anemia with excess blasts in transformation (RAEB-T) is characterized by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.
http://purl.obolibrary.org/obo/MONDO_0015701	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency		A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
http://purl.obolibrary.org/obo/MONDO_0015712	non-distal trisomy 10q	http://purl.obolibrary.org/obo/MONDO_0016961	partial duplication of the long arm of chromosome 10		Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.
http://purl.obolibrary.org/obo/MONDO_0015715	severe hemophilia B	http://purl.obolibrary.org/obo/MONDO_0010604	hemophilia B		Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
http://purl.obolibrary.org/obo/MONDO_0015716	moderately severe hemophilia B	http://purl.obolibrary.org/obo/MONDO_0010604	hemophilia B		Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
http://purl.obolibrary.org/obo/MONDO_0015717	mild hemophilia B	http://purl.obolibrary.org/obo/MONDO_0010604	hemophilia B		Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
http://purl.obolibrary.org/obo/MONDO_0015718	mosaic trisomy 12	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015719	severe hemophilia A	http://purl.obolibrary.org/obo/MONDO_0010602	hemophilia A		Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
http://purl.obolibrary.org/obo/MONDO_0015720	moderately severe hemophilia A	http://purl.obolibrary.org/obo/MONDO_0010602	hemophilia A		Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
http://purl.obolibrary.org/obo/MONDO_0015721	mild hemophilia A	http://purl.obolibrary.org/obo/MONDO_0010602	hemophilia A		Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
http://purl.obolibrary.org/obo/MONDO_0015724	non-distal trisomy 13q	http://purl.obolibrary.org/obo/MONDO_0022177	chromosome 13q trisomy		Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
http://purl.obolibrary.org/obo/MONDO_0015727	mosaic trisomy 15	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015730	mosaic trisomy 17	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015731	high anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.
http://purl.obolibrary.org/obo/MONDO_0015732	intermediate anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.
http://purl.obolibrary.org/obo/MONDO_0015733	low anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.
http://purl.obolibrary.org/obo/MONDO_0015734	rectal duplication	http://purl.obolibrary.org/obo/MONDO_0019938	anorectal malformation		Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.
http://purl.obolibrary.org/obo/MONDO_0015743	idiopathic bilateral vestibulopathy	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.
http://purl.obolibrary.org/obo/MONDO_0015744	distal trisomy 19q	http://purl.obolibrary.org/obo/MONDO_0016969	partial duplication of the long arm of chromosome 19		Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.
http://purl.obolibrary.org/obo/MONDO_0015745	microcephaly-polymicrogyria-corpus callosum agenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.
http://purl.obolibrary.org/obo/MONDO_0015749	6q16 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018354	Prader-Willi-like syndrome		Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
http://purl.obolibrary.org/obo/MONDO_0015751	craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
http://purl.obolibrary.org/obo/MONDO_0015752	intellectual disability-cataracts-kyphosis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.
http://purl.obolibrary.org/obo/MONDO_0015755	myopathy with hexagonally cross-linked tubular arrays	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.
http://purl.obolibrary.org/obo/MONDO_0015759	B-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003
http://purl.obolibrary.org/obo/MONDO_0015763	mosaic trisomy 2	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015764	mosaic trisomy 20	http://purl.obolibrary.org/obo/MONDO_0022757	chromosome 20 trisomy		Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.
http://purl.obolibrary.org/obo/MONDO_0015768	trisomy 5p	http://purl.obolibrary.org/obo/MONDO_0016942	partial trisomy/tetrasomy of the short arm of chromosome 5		Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0015769	distal trisomy 6p	http://purl.obolibrary.org/obo/MONDO_0016943	partial duplication of the short arm of chromosome 6		Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.
http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0019824	non-acquired pituitary hormone deficiency		Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).
http://purl.obolibrary.org/obo/MONDO_0015773	fibular dimelia-diplopodia syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.
http://purl.obolibrary.org/obo/MONDO_0015779	45,X/46,XY mixed gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0017975	sex chromosome disorder of sex development		45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.
http://purl.obolibrary.org/obo/MONDO_0015782	dysmorphism-cleft palate-loose skin syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.
http://purl.obolibrary.org/obo/MONDO_0015787	symptomatic form of hemophilia A in female carriers	http://purl.obolibrary.org/obo/MONDO_0010602	hemophilia A		A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.
http://purl.obolibrary.org/obo/MONDO_0015788	symptomatic form of hemophilia B in female carriers	http://purl.obolibrary.org/obo/MONDO_0010604	hemophilia B		A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.
http://purl.obolibrary.org/obo/MONDO_0015792	transient congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0018612	congenital hypothyroidism		A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.
http://purl.obolibrary.org/obo/MONDO_0015795	undifferentiated embryonal sarcoma of the liver	http://purl.obolibrary.org/obo/MONDO_0024477	liver and intrahepatic bile duct neoplasm		Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.
http://purl.obolibrary.org/obo/MONDO_0015800	osteosclerosis-developmental delay-craniosynostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
http://purl.obolibrary.org/obo/MONDO_0015806	adult intestinal botulism	http://purl.obolibrary.org/obo/MONDO_0015805	intestinal botulism		A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.
http://purl.obolibrary.org/obo/MONDO_0015808	folliculotropic mycosis fungoides	http://purl.obolibrary.org/obo/MONDO_0021655	secondary catabolic mucinosis of skin		Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.
http://purl.obolibrary.org/obo/MONDO_0015809	localized pagetoid reticulosis	http://purl.obolibrary.org/obo/MONDO_0045071	mycosis fungoides variant		A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported.
http://purl.obolibrary.org/obo/MONDO_0015811	primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015758	primary cutaneous T-cell lymphoma		Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.
http://purl.obolibrary.org/obo/MONDO_0015812	primary cutaneous gamma/delta-positive T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015758	primary cutaneous T-cell lymphoma		Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.
http://purl.obolibrary.org/obo/MONDO_0015813	primary cutaneous marginal zone B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015819	indolent primary cutaneous B-cell lymphoma		Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.
http://purl.obolibrary.org/obo/MONDO_0015814	primary cutaneous follicle center lymphoma	http://purl.obolibrary.org/obo/MONDO_0015819	indolent primary cutaneous B-cell lymphoma		A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin.
http://purl.obolibrary.org/obo/MONDO_0015826	autosomal dominant spondylocostal dysostosis	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
http://purl.obolibrary.org/obo/MONDO_0015832	true unicornuate uterus	http://purl.obolibrary.org/obo/MONDO_0015831	unilateral aplasia of the mullerian ducts		True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.
http://purl.obolibrary.org/obo/MONDO_0015833	pseudounicornuate uterus	http://purl.obolibrary.org/obo/MONDO_0015831	unilateral aplasia of the mullerian ducts		Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.
http://purl.obolibrary.org/obo/MONDO_0015840	complete septate uterus	http://purl.obolibrary.org/obo/MONDO_0015839	septate uterus		Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.
http://purl.obolibrary.org/obo/MONDO_0015841	partial septate uterus	http://purl.obolibrary.org/obo/MONDO_0015839	septate uterus		Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.
http://purl.obolibrary.org/obo/MONDO_0015849	longitudinal vaginal septum	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities.
http://purl.obolibrary.org/obo/MONDO_0015850	transverse vaginal septum	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.
http://purl.obolibrary.org/obo/MONDO_0015864	mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0006290	malignant germ cell tumor		A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.
http://purl.obolibrary.org/obo/MONDO_0015873	Paget disease of the nipple	http://purl.obolibrary.org/obo/MONDO_0003950	nipple carcinoma		Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.
http://purl.obolibrary.org/obo/MONDO_0015908	chromomycosis	http://purl.obolibrary.org/obo/MONDO_0002040	dermatomycosis		Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.
http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		An instance of peripheral neuropathy that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0015941	epiphyseal dysplasia-hearing loss-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.
http://purl.obolibrary.org/obo/MONDO_0015943	eosinophilic granulomatosis with polyangiitis	http://purl.obolibrary.org/obo/MONDO_0012105	granulomatosis with polyangiitis		Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.
http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
http://purl.obolibrary.org/obo/MONDO_0015986	bilateral renal agenesis	http://purl.obolibrary.org/obo/MONDO_0018470	renal agenesis		Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
http://purl.obolibrary.org/obo/MONDO_0015987	scimitar syndrome	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.
http://purl.obolibrary.org/obo/MONDO_0015988	multicystic dysplastic kidney	http://purl.obolibrary.org/obo/MONDO_0002473	cystic kidney disease		Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.
http://purl.obolibrary.org/obo/MONDO_0015995	melorheostosis with osteopoikilosis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
http://purl.obolibrary.org/obo/MONDO_0016002	Ehlers-Danlos syndrome, kyphoscoliotic type 1	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
http://purl.obolibrary.org/obo/MONDO_0016004	aminopterin/methotrexate embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.
http://purl.obolibrary.org/obo/MONDO_0016005	indomethacin embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.
http://purl.obolibrary.org/obo/MONDO_0016007	cocaine embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.
http://purl.obolibrary.org/obo/MONDO_0016015	phenobarbital embryopathy	http://purl.obolibrary.org/obo/MONDO_0016677	toxic or drug-related embryofetopathy		A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.
http://purl.obolibrary.org/obo/MONDO_0016017	methimazole embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.
http://purl.obolibrary.org/obo/MONDO_0016019	Rasmussen subacute encephalitis	http://purl.obolibrary.org/obo/MONDO_0800495	variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration		A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.
http://purl.obolibrary.org/obo/MONDO_0016029	esthesioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0016713	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor		A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.
http://purl.obolibrary.org/obo/MONDO_0016032	femoral agenesis/hypoplasia	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
http://purl.obolibrary.org/obo/MONDO_0016038	calcified aponeurotic fibroma	http://purl.obolibrary.org/obo/MONDO_0016037	superficial Fibromatosis		A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.
http://purl.obolibrary.org/obo/MONDO_0016041	congenital microgastria	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.
http://purl.obolibrary.org/obo/MONDO_0016042	late-onset isolated ACTH deficiency	http://purl.obolibrary.org/obo/MONDO_0019832	acquired pituitary hormone deficiency		Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.
http://purl.obolibrary.org/obo/MONDO_0016045	tetragametic chimerism	http://purl.obolibrary.org/obo/MONDO_0017975	sex chromosome disorder of sex development		Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.
http://purl.obolibrary.org/obo/MONDO_0016048	isolated autosomal dominant hypomagnesemia, Glaudemans type	http://purl.obolibrary.org/obo/MONDO_0017626	familial primary hypomagnesemia with normocalcuria		Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
http://purl.obolibrary.org/obo/MONDO_0016049	congenital myopathy, Paradas type	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.
http://purl.obolibrary.org/obo/MONDO_0016052	atypical autism	http://purl.obolibrary.org/obo/MONDO_0000594	pervasive developmental disorder		Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '
http://purl.obolibrary.org/obo/MONDO_0016053	isolated cerebellar vermis hypoplasia	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.
http://purl.obolibrary.org/obo/MONDO_0016057	isolated encephalocele	http://purl.obolibrary.org/obo/MONDO_0017078	cephalocele		Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
http://purl.obolibrary.org/obo/MONDO_0016059	cleft lip/palate-deafness-sacral lipoma syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.
http://purl.obolibrary.org/obo/MONDO_0016062	median cleft lip/mandibule	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.
http://purl.obolibrary.org/obo/MONDO_0016065	cleft palate-short stature-vertebral anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.
http://purl.obolibrary.org/obo/MONDO_0016071	juvenile hyaline fibromatosis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.
http://purl.obolibrary.org/obo/MONDO_0016078	congenital systemic arteriovenous fistula	http://purl.obolibrary.org/obo/MONDO_0020296	congenital arteriovenous fistula		A rare, potentially life-threatening, vascular disease characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.
http://purl.obolibrary.org/obo/MONDO_0016079	sporadic Creutzfeldt-Jakob disease	http://purl.obolibrary.org/obo/MONDO_0005357	Creutzfeldt Jacob disease		A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.
http://purl.obolibrary.org/obo/MONDO_0016081	coronary arterial fistulas	http://purl.obolibrary.org/obo/MONDO_0015203	coronary artery congenital malformation		A congenital disorder characterized by an abnormal connection between one or more of the coronary arteries and a cardiac chamber or great vessel.
http://purl.obolibrary.org/obo/MONDO_0016086	osteochondritis of tarsal/metatarsal bone	http://purl.obolibrary.org/obo/MONDO_0018381	osteochondrosis		A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.
http://purl.obolibrary.org/obo/MONDO_0016087	progressive non-infectious anterior vertebral fusion	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.
http://purl.obolibrary.org/obo/MONDO_0016091	adult Krabbe disease	http://purl.obolibrary.org/obo/MONDO_0009499	Krabbe disease		A Krabbe disease that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0016092	serous or mucinous cystadenoma of childhood	http://purl.obolibrary.org/obo/MONDO_0000646	ovarian benign neoplasm		Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.
http://purl.obolibrary.org/obo/MONDO_0016093	borderline epithelial tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0002229	ovarian epithelial tumor		A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion.
http://purl.obolibrary.org/obo/MONDO_0016094	vaginal germ cell malignant tumor	http://purl.obolibrary.org/obo/MONDO_0006290	malignant germ cell tumor		A malignant germ cell tumor that involves the vagina.
http://purl.obolibrary.org/obo/MONDO_0016095	vaginal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.
http://purl.obolibrary.org/obo/MONDO_0016096	malignant non-dysgerminomatous germ cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0021656	nongerminomatous germ cell tumor		A malignant germ cell tumor other than dysgerminoma that arises from the ovary.
http://purl.obolibrary.org/obo/MONDO_0016097	symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.
http://purl.obolibrary.org/obo/MONDO_0016098	immune-mediated necrotizing myopathy	http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy		Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.
http://purl.obolibrary.org/obo/MONDO_0016099	overlap myositis	http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy		Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.
http://purl.obolibrary.org/obo/MONDO_0016102	subacute inflammatory demyelinating polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).
http://purl.obolibrary.org/obo/MONDO_0016103	isolated asymptomatic elevation of creatine phosphokinase	http://purl.obolibrary.org/obo/MONDO_0016146	caveolinopathy		Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.
http://purl.obolibrary.org/obo/MONDO_0016105	acquired skeletal muscle disease	http://purl.obolibrary.org/obo/MONDO_0020120	skeletal muscle disorder		An instance of skeletal muscle disease that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0016140	sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
http://purl.obolibrary.org/obo/MONDO_0016161	cerebral gigantism-jaw cysts syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.
http://purl.obolibrary.org/obo/MONDO_0016164	herpetiform pemphigus	http://purl.obolibrary.org/obo/MONDO_0006594	pemphigus		Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.
http://purl.obolibrary.org/obo/MONDO_0016202	autosomal dominant rhegmatogenous retinal detachment	http://purl.obolibrary.org/obo/MONDO_0005464	rhegmatogenous retinal detachment		Autosomal dominant form of rhegmatogenous retinal detachment.
http://purl.obolibrary.org/obo/MONDO_0016204	idiopathic copper-associated cirrhosis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.
http://purl.obolibrary.org/obo/MONDO_0016207	phacoanaphylactic uveitis	http://purl.obolibrary.org/obo/MONDO_0017634	non-infectious anterior uveitis		Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.
http://purl.obolibrary.org/obo/MONDO_0016208	solitary rectal ulcer syndrome	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.
http://purl.obolibrary.org/obo/MONDO_0016209	benign familial nocturnal alternating hemiplegia of childhood	http://purl.obolibrary.org/obo/MONDO_0016210	alternating hemiplegia		Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.
http://purl.obolibrary.org/obo/MONDO_0016213	leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.
http://purl.obolibrary.org/obo/MONDO_0016214	pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.
http://purl.obolibrary.org/obo/MONDO_0016216	adult hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0007256	hepatocellular carcinoma		Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.
http://purl.obolibrary.org/obo/MONDO_0016217	mal de Debarquement	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.
http://purl.obolibrary.org/obo/MONDO_0016218	Guillain-Barre syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.
http://purl.obolibrary.org/obo/MONDO_0016219	dysmorphism-pectus carinatum-joint laxity syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Dysmorphism-pectus carinatum-joint laxity syndrome is characterized by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.
http://purl.obolibrary.org/obo/MONDO_0016220	congenital temporomandibular joint ankylosis	http://purl.obolibrary.org/obo/MONDO_0005473	temporomandibular joint disorder		Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.
http://purl.obolibrary.org/obo/MONDO_0016248	familial ovarian cancer	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0016249	hereditary site-specific ovarian cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0016248	familial ovarian cancer		Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.
http://purl.obolibrary.org/obo/MONDO_0016255	uterine corpus mixed epithelial and mesenchymal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021254	corpus uteri neoplasm		A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.
http://purl.obolibrary.org/obo/MONDO_0016258	uterine corpus carcinofibroma	http://purl.obolibrary.org/obo/MONDO_0002879	uterine body mixed cancer		An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.
http://purl.obolibrary.org/obo/MONDO_0016259	carcinosarcoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0006485	uterine carcinosarcoma		An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.
http://purl.obolibrary.org/obo/MONDO_0016260	uterine corpus rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.
http://purl.obolibrary.org/obo/MONDO_0016262	leiomyosarcoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0005210	uterine corpus sarcoma		An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.
http://purl.obolibrary.org/obo/MONDO_0016263	primitive neuroectodermal tumor of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0021254	corpus uteri neoplasm		A primitive neuroectodermal tumor that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0016264	autoimmune hepatitis	http://purl.obolibrary.org/obo/MONDO_0002251	hepatitis		Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.
http://purl.obolibrary.org/obo/MONDO_0016266	squamous cell carcinoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0006003	uterine corpus cancer		A squamous cell carcinoma that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0016267	undifferentiated carcinoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0006003	uterine corpus cancer		Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.
http://purl.obolibrary.org/obo/MONDO_0016268	papillary carcinoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0006509	papillary carcinoma		A papillary carcinoma that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0016269	high-grade neuroendocrine carcinoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.
http://purl.obolibrary.org/obo/MONDO_0016270	low-grade neuroendocrine tumor of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm		Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.
http://purl.obolibrary.org/obo/MONDO_0016271	adenoid cystic carcinoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0006003	uterine corpus cancer		A adenoid cystic carcinoma that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0016272	transitional cell carcinoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0006474	transitional cell carcinoma		A transitional cell carcinoma that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0016273	malignant germ cell tumor of corpus uteri	http://purl.obolibrary.org/obo/MONDO_0006290	malignant germ cell tumor		A malignant germ cell tumor that involves the body of uterus.
http://purl.obolibrary.org/obo/MONDO_0016276	high-grade neuroendocrine carcinoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0002974	cervical cancer		High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.
http://purl.obolibrary.org/obo/MONDO_0016280	sarcoma of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0005089	sarcoma		A sarcoma involving a uterine cervix.
http://purl.obolibrary.org/obo/MONDO_0016282	rhabdomyosarcoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016280	sarcoma of cervix uteri		A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.
http://purl.obolibrary.org/obo/MONDO_0016283	leiomyosarcoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016280	sarcoma of cervix uteri		Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.
http://purl.obolibrary.org/obo/MONDO_0016284	primitive neuroectodermal tumor of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016280	sarcoma of cervix uteri		Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfunctional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.
http://purl.obolibrary.org/obo/MONDO_0016285	papillary carcinoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0006509	papillary carcinoma		A papillary carcinoma that involves the uterine cervix.
http://purl.obolibrary.org/obo/MONDO_0016289	malignant germ cell tumor of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0006290	malignant germ cell tumor		A malignant germ cell tumor that involves the uterine cervix.
http://purl.obolibrary.org/obo/MONDO_0016290	Hernández-Aguirre Negrete syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0016291	craniosynostosis, Herrmann-Opitz type	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.
http://purl.obolibrary.org/obo/MONDO_0016294	Hirschsprung disease-type D brachydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
http://purl.obolibrary.org/obo/MONDO_0016299	holoprosencephaly-caudal dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).
http://purl.obolibrary.org/obo/MONDO_0016312	5-fluorouracil poisoning	http://purl.obolibrary.org/obo/MONDO_0800390	chemotherapy-induced toxicity		5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.
http://purl.obolibrary.org/obo/MONDO_0016315	mucopolysaccharidosis type 2, severe form	http://purl.obolibrary.org/obo/MONDO_0010674	mucopolysaccharidosis type 2		Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
http://purl.obolibrary.org/obo/MONDO_0016316	mucopolysaccharidosis type 2, attenuated form	http://purl.obolibrary.org/obo/MONDO_0010674	mucopolysaccharidosis type 2		Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.
http://purl.obolibrary.org/obo/MONDO_0016321	pulmonary interstitial glycogenosis	http://purl.obolibrary.org/obo/MONDO_0017019	interstitial lung disease specific to infancy		Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).
http://purl.obolibrary.org/obo/MONDO_0016322	neuroendocrine cell hyperplasia of infancy	http://purl.obolibrary.org/obo/MONDO_0017019	interstitial lung disease specific to infancy		Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.
http://purl.obolibrary.org/obo/MONDO_0016330	non-familial hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005045	hypertrophic cardiomyopathy		An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0016331	infantile systemic hyalinosis	http://purl.obolibrary.org/obo/MONDO_0009229	hyaline fibromatosis syndrome		Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.
http://purl.obolibrary.org/obo/MONDO_0016346	hydrocephalus-obesity-hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.
http://purl.obolibrary.org/obo/MONDO_0016350	hydrocephalus-blue sclerae-nephropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0016349	congenital hydrocephalus		Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.
http://purl.obolibrary.org/obo/MONDO_0016358	limited cutaneous systemic sclerosis	http://purl.obolibrary.org/obo/MONDO_0005100	systemic sclerosis		Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.
http://purl.obolibrary.org/obo/MONDO_0016359	limited systemic sclerosis	http://purl.obolibrary.org/obo/MONDO_0005100	systemic sclerosis		Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.
http://purl.obolibrary.org/obo/MONDO_0016360	marcothrombocytopenia with mitral valve insufficiency	http://purl.obolibrary.org/obo/MONDO_0018795	syndromic constitutional thrombocytopenia		Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.
http://purl.obolibrary.org/obo/MONDO_0016366	maternal phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0009861	phenylketonuria		Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.
http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0019127	polymyositis		Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.
http://purl.obolibrary.org/obo/MONDO_0016368	Rothmund-Thomson syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010002	Rothmund-Thomson syndrome		Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.
http://purl.obolibrary.org/obo/MONDO_0016369	Rothmund-Thomson syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0010002	Rothmund-Thomson syndrome		Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
http://purl.obolibrary.org/obo/MONDO_0016373	isolated facial myokymia	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		A condition that consists of spontaneous, gentle, constant, rippling contractions that spread through the affected striated muscle.
http://purl.obolibrary.org/obo/MONDO_0016378	maternal hyperthermia induced birth defects	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.
http://purl.obolibrary.org/obo/MONDO_0016384	hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.
http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder	http://purl.obolibrary.org/obo/MONDO_0004069	inborn mitochondrial metabolism disorder		A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system.
http://purl.obolibrary.org/obo/MONDO_0016392	cerebellar hypoplasia-tapetoretinal degeneration syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.
http://purl.obolibrary.org/obo/MONDO_0016394	sporadic infantile bilateral striatal necrosis	http://purl.obolibrary.org/obo/MONDO_0015518	infantile bilateral striatal necrosis		Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
http://purl.obolibrary.org/obo/MONDO_0016407	oligomeganephronia	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.
http://purl.obolibrary.org/obo/MONDO_0016408	permanent congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0015514	hereditary endocrine growth disease		Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.
http://purl.obolibrary.org/obo/MONDO_0016411	hypothyroidism due to deficient transcription factors involved in pituitary development or function	http://purl.obolibrary.org/obo/MONDO_0016410	central congenital hypothyroidism		Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
http://purl.obolibrary.org/obo/MONDO_0016414	hypotrichosis-intellectual disability, Lopes type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.
http://purl.obolibrary.org/obo/MONDO_0016418	multiple system atrophy, cerebellar type	http://purl.obolibrary.org/obo/MONDO_0007803	multiple system atrophy		Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).
http://purl.obolibrary.org/obo/MONDO_0016421	toxic oil syndrome	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.
http://purl.obolibrary.org/obo/MONDO_0016422	autoimmune polyendocrinopathy type 3	http://purl.obolibrary.org/obo/MONDO_0017278	autoimmune polyendocrinopathy		A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.
http://purl.obolibrary.org/obo/MONDO_0016424	progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0005045	hypertrophic cardiomyopathy		Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.
http://purl.obolibrary.org/obo/MONDO_0016425	Hughes-Stovin syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.
http://purl.obolibrary.org/obo/MONDO_0016429	Marburg acute multiple sclerosis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.
http://purl.obolibrary.org/obo/MONDO_0016430	Balo concentric sclerosis	http://purl.obolibrary.org/obo/MONDO_0002562	demyelinating disease		Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.
http://purl.obolibrary.org/obo/MONDO_0016431	autosomal dominant Charcot-Marie-Tooth disease type 2M	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
http://purl.obolibrary.org/obo/MONDO_0016433	dysmorphism-short stature-deafness-disorder of sex development syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0016437	late-onset focal dermal elastosis	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.
http://purl.obolibrary.org/obo/MONDO_0016438	linear focal dermal elastosis	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.
http://purl.obolibrary.org/obo/MONDO_0016440	elastofibroma dorsi	http://purl.obolibrary.org/obo/MONDO_0006209	fibroblastic neoplasm		A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.
http://purl.obolibrary.org/obo/MONDO_0016441	acquired pseudoxanthoma elasticum	http://purl.obolibrary.org/obo/MONDO_0024308	pseudoxanthoma elasticum (inherited or acquired)		A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type.
http://purl.obolibrary.org/obo/MONDO_0016443	papular elastorrhexis	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.
http://purl.obolibrary.org/obo/MONDO_0016445	familial anetoderma	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.
http://purl.obolibrary.org/obo/MONDO_0016446	acquired cutis laxa	http://purl.obolibrary.org/obo/MONDO_0016175	cutis laxa		An instance of cutis laxa that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0016447	white fibrous papulosis of the neck	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.
http://purl.obolibrary.org/obo/MONDO_0016448	pseudoxanthoma elasticum-like papillary dermal elastolysis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.
http://purl.obolibrary.org/obo/MONDO_0016450	autoimmune hemolytic anemia, cold type	http://purl.obolibrary.org/obo/MONDO_0020108	autoimmune hemolytic anemia		Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).
http://purl.obolibrary.org/obo/MONDO_0016451	idiopathic hypersomnia with long sleep time	http://purl.obolibrary.org/obo/MONDO_0018044	idiopathic hypersomnia		Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.
http://purl.obolibrary.org/obo/MONDO_0016452	idiopathic hypersomnia without long sleep time	http://purl.obolibrary.org/obo/MONDO_0018044	idiopathic hypersomnia		Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.
http://purl.obolibrary.org/obo/MONDO_0016454	Charcot-Marie-Tooth disease type 2B5	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
http://purl.obolibrary.org/obo/MONDO_0016455	virus-associated trichodysplasia spinulosa	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.
http://purl.obolibrary.org/obo/MONDO_0016456	5q14.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
http://purl.obolibrary.org/obo/MONDO_0016457	ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.
http://purl.obolibrary.org/obo/MONDO_0016460	polyvalvular heart disease syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0016461	5q35 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016956	partial trisomy of the long arm of chromosome 5		The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.
http://purl.obolibrary.org/obo/MONDO_0016464	insulin-resistance syndrome type B	http://purl.obolibrary.org/obo/MONDO_0001933	endocrine pancreas disorder		Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction.
http://purl.obolibrary.org/obo/MONDO_0016466	asbestosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.
http://purl.obolibrary.org/obo/MONDO_0016468	toxin-mediated infectious botulism	http://purl.obolibrary.org/obo/MONDO_0005498	botulism		Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).
http://purl.obolibrary.org/obo/MONDO_0016469	Ehlers-Danlos syndrome, vascular-like type	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.
http://purl.obolibrary.org/obo/MONDO_0016470	Ehlers-Danlos/osteogenesis imperfecta syndrome	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
http://purl.obolibrary.org/obo/MONDO_0016474	drug-induced lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0004670	lupus erythematosus		An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.
http://purl.obolibrary.org/obo/MONDO_0016486	beta-thalassemia major	http://purl.obolibrary.org/obo/MONDO_0013517	beta-thalassemia HBB/LCRB		Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.
http://purl.obolibrary.org/obo/MONDO_0016487	beta-thalassemia intermedia	http://purl.obolibrary.org/obo/MONDO_0013517	beta-thalassemia HBB/LCRB		Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
http://purl.obolibrary.org/obo/MONDO_0016490	hemoglobin C-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0017145	beta-thalassemia and related diseases		Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.
http://purl.obolibrary.org/obo/MONDO_0016491	hemoglobin E-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0017145	beta-thalassemia and related diseases		Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.
http://purl.obolibrary.org/obo/MONDO_0016497	paraparetic variant of Guillain-Barre syndrome	http://purl.obolibrary.org/obo/MONDO_0016218	Guillain-Barre syndrome		Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.
http://purl.obolibrary.org/obo/MONDO_0016499	autoimmune autonomic ganglionopathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.
http://purl.obolibrary.org/obo/MONDO_0016500	acute sensory ataxic neuropathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.
http://purl.obolibrary.org/obo/MONDO_0016502	Hermansky-Pudlak syndrome without pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0019312	Hermansky-Pudlak syndrome		Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.
http://purl.obolibrary.org/obo/MONDO_0016504	primary unilateral adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0001422	primary aldosteronism		Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.
http://purl.obolibrary.org/obo/MONDO_0016505	aldosterone-producing adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0003924	adrenal cortex adenoma		An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness.
http://purl.obolibrary.org/obo/MONDO_0016506	ectopic aldosterone-producing tumor	http://purl.obolibrary.org/obo/MONDO_0001422	primary aldosteronism		Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.
http://purl.obolibrary.org/obo/MONDO_0016510	epibulbar lipodermoid-preauricular appendage-polythelia syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.
http://purl.obolibrary.org/obo/MONDO_0016515	Kallmann syndrome-heart disease syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.
http://purl.obolibrary.org/obo/MONDO_0016521	muscular pseudohypertrophy-hypothyroidism syndrome	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.
http://purl.obolibrary.org/obo/MONDO_0016526	trisomy 9p	http://purl.obolibrary.org/obo/MONDO_0700043	syndrome caused by partial chromosomal duplication of the short arm of chromosome 9		Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
http://purl.obolibrary.org/obo/MONDO_0016534	infundibulo-neurohypophysitis	http://purl.obolibrary.org/obo/MONDO_0021156	hypophysitis		A hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.
http://purl.obolibrary.org/obo/MONDO_0016539	atypical hypotonia-cystinuria syndrome	http://purl.obolibrary.org/obo/MONDO_0011669	hypotonia-cystinuria syndrome		A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
http://purl.obolibrary.org/obo/MONDO_0016541	acquired secondary polycythemia	http://purl.obolibrary.org/obo/MONDO_0020115	secondary polycythemia		An instance of secondary polycythemia that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0016544	IgG4-related mesenteritis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).
http://purl.obolibrary.org/obo/MONDO_0016545	leukoencephalopathy-palmoplantar keratoderma syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.
http://purl.obolibrary.org/obo/MONDO_0016548	megacystis-megaureter syndrome	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.
http://purl.obolibrary.org/obo/MONDO_0016553	isolated congenital hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0016554	neonatal iodine exposure	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.
http://purl.obolibrary.org/obo/MONDO_0016557	leukonychia totalis	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.
http://purl.obolibrary.org/obo/MONDO_0016559	glaucoma secondary to spherophakia/ectopia lentis and megalocornea	http://purl.obolibrary.org/obo/MONDO_0009633	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma		Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.
http://purl.obolibrary.org/obo/MONDO_0016562	progressive supranuclear palsy-pure akinesia with gait freezing syndrome	http://purl.obolibrary.org/obo/MONDO_0020488	atypical progressive supranuclear palsy syndrome		PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.
http://purl.obolibrary.org/obo/MONDO_0016563	progressive supranuclear palsy-corticobasal syndrome	http://purl.obolibrary.org/obo/MONDO_0020488	atypical progressive supranuclear palsy syndrome		PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.
http://purl.obolibrary.org/obo/MONDO_0016564	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	http://purl.obolibrary.org/obo/MONDO_0020488	atypical progressive supranuclear palsy syndrome		PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.
http://purl.obolibrary.org/obo/MONDO_0016568	Lowe-Kohn-Cohen syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
http://purl.obolibrary.org/obo/MONDO_0016570	primary pulmonary lymphoma	http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma		Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).
http://purl.obolibrary.org/obo/MONDO_0016572	central bilateral macrogyria	http://purl.obolibrary.org/obo/MONDO_0017094	cerebral cortical dysplasia		Central bilateral macrogyria is a neuronal migration disorder characterized by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.
http://purl.obolibrary.org/obo/MONDO_0016574	hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019288	skin pigmentation disorder		Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.
http://purl.obolibrary.org/obo/MONDO_0016943	partial duplication of the short arm of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016927	partial duplication of chromosome 6		Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016944	partial duplication of the short arm of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0016928	partial duplication of chromosome 7		Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
http://purl.obolibrary.org/obo/MONDO_0016991	acute necrotizing encephalopathy of childhood	http://purl.obolibrary.org/obo/MONDO_0020067	infectious encephalitis		Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.
http://purl.obolibrary.org/obo/MONDO_0017052	intermediate maple syrup urine disease	http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease		Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
http://purl.obolibrary.org/obo/MONDO_0017078	cephalocele	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.
http://purl.obolibrary.org/obo/MONDO_0017092	unilateral polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0000087	polymicrogyria		Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.
http://purl.obolibrary.org/obo/MONDO_0017186	diazoxide-resistant hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0019010	congenital isolated hyperinsulinism		Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.
http://purl.obolibrary.org/obo/MONDO_0017255	panuveitis	http://purl.obolibrary.org/obo/MONDO_0020283	uveitis		A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.
http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.
http://purl.obolibrary.org/obo/MONDO_0017290	familial intrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0019072	intrahepatic cholestasis		An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0017400	hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.
http://purl.obolibrary.org/obo/MONDO_0017411	neonatal inflammatory skin and bowel disease	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
http://purl.obolibrary.org/obo/MONDO_0017806	15q overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0016965	partial duplication of the long arm of chromosome 15		15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
http://purl.obolibrary.org/obo/MONDO_0018002	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
http://purl.obolibrary.org/obo/MONDO_0018045	Hoyeraal-Hreidarsson syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
http://purl.obolibrary.org/obo/MONDO_0018189	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	http://purl.obolibrary.org/obo/MONDO_0020044	autosomal recessive metabolic cerebellar ataxia		Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.
http://purl.obolibrary.org/obo/MONDO_0018201	extragonadal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0005040	germ cell tumor		A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).
http://purl.obolibrary.org/obo/MONDO_0018215	paraneoplastic neurologic syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome		A paraneoplastic syndrome that involves the nervous system.
http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		Any Mendelian diseases that affects growth and development of the skeleton.
http://purl.obolibrary.org/obo/MONDO_0018321	atypical juvenile parkinsonism	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.
http://purl.obolibrary.org/obo/MONDO_0018342	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	http://purl.obolibrary.org/obo/MONDO_0015461	short rib-polydactyly syndrome		Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.
http://purl.obolibrary.org/obo/MONDO_0018354	Prader-Willi-like syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018510	small intestine neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0004251	small intestine neoplasm		A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
http://purl.obolibrary.org/obo/MONDO_0018511	epithelial tumor of the appendix	http://purl.obolibrary.org/obo/MONDO_0024479	epithelial tumor of colon		A epithelial neoplasm that involves the vermiform appendix.
http://purl.obolibrary.org/obo/MONDO_0018614	undetermined early-onset epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
http://purl.obolibrary.org/obo/MONDO_0018715	congenital hemangioma	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH).
http://purl.obolibrary.org/obo/MONDO_0018762	non-acquired combined pituitary hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0019824	non-acquired pituitary hormone deficiency		Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.
http://purl.obolibrary.org/obo/MONDO_0018764	microcephalic primordial dwarfism due to RTTN deficiency	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.
http://purl.obolibrary.org/obo/MONDO_0018869	cobblestone lissencephaly	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.
http://purl.obolibrary.org/obo/MONDO_0018898	primary cutaneous lymphoma	http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma		Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.
http://purl.obolibrary.org/obo/MONDO_0018960	congenital primary megaureter	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.
http://purl.obolibrary.org/obo/MONDO_0019218	inborn disorder of bile acid synthesis	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
http://purl.obolibrary.org/obo/MONDO_0019288	skin pigmentation disorder	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A pigmentation disease that involves the zone of skin.
http://purl.obolibrary.org/obo/MONDO_0019450	lissencephaly with cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.
http://purl.obolibrary.org/obo/MONDO_0019500	extragonadal teratoma	http://purl.obolibrary.org/obo/MONDO_0020539	extragonadal non-dysgerminomatous germ cell tumor		Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.
http://purl.obolibrary.org/obo/MONDO_0019575	hypotrichosis simplex of the scalp	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.
http://purl.obolibrary.org/obo/MONDO_0019722	glomerular disorder	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A disease involving the renal glomerulus.
http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.
http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		A disease that has its basis in the disruption of embryonic morphogenesis.
http://purl.obolibrary.org/obo/MONDO_0019788	non-secreting paraganglioma	http://purl.obolibrary.org/obo/MONDO_0000448	paraganglioma		Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.
http://purl.obolibrary.org/obo/MONDO_0020049	autosomal anomaly	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		Chromosomal disorder in which the chromosomal anomaly involves an autosome.
http://purl.obolibrary.org/obo/MONDO_0020064	pulmonary valve agenesis	http://purl.obolibrary.org/obo/MONDO_0016581	conotruncal heart malformations		Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424
http://purl.obolibrary.org/obo/MONDO_0020065	combined dystonia	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).
http://purl.obolibrary.org/obo/MONDO_0020115	secondary polycythemia	http://purl.obolibrary.org/obo/MONDO_0005571	polycythemia		Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).
http://purl.obolibrary.org/obo/MONDO_0020296	congenital arteriovenous fistula	http://purl.obolibrary.org/obo/MONDO_0024239	congenital anomaly of cardiovascular system		A congenital vascular disorder characterized byan abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.
http://purl.obolibrary.org/obo/MONDO_0020334	mast cell leukemia	http://purl.obolibrary.org/obo/MONDO_0016586	systemic mastocytosis		Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.
http://purl.obolibrary.org/obo/MONDO_0020529	ACTH-independent Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0957431	endogenous Cushing syndrome		A group of endogenous Cushing syndrome  that may result from excess secretion of cortisol by either a unilateral and benign, or malignant adrenocortical tumor, or nodular adrenocortical disease.
http://purl.obolibrary.org/obo/HP_0031605	Abnormal fundus pigmentation	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. Fundus pigmentation should be evaluated in the context of skin and hair color.
http://purl.obolibrary.org/obo/MONDO_0021055	classic familial adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis		Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.
http://purl.obolibrary.org/obo/MONDO_0021061	neurofibromatosis	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.
http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm	http://purl.obolibrary.org/obo/MONDO_0005575	colorectal cancer		A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
http://purl.obolibrary.org/obo/MONDO_0021068	ovarian neoplasm	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		A benign, borderline, or malignant neoplasm involving the ovary.
http://purl.obolibrary.org/obo/MONDO_0021069	malignant endocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.
http://purl.obolibrary.org/obo/MONDO_0021070	sublingual gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0006284	major salivary gland carcinoma		A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.
http://purl.obolibrary.org/obo/MONDO_0021072	sympathetic paraganglioma	http://purl.obolibrary.org/obo/MONDO_0044993	sympathetic nervous system disorder		A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.
http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition	http://purl.obolibrary.org/obo/MONDO_0045024	cancer or benign tumor		A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.
http://purl.obolibrary.org/obo/MONDO_0021076	pancreatic exocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021040	pancreatic neoplasm		A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.
http://purl.obolibrary.org/obo/MONDO_0021080	blood vessel neoplasm	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		A neoplasm arising from arteries or veins.
http://purl.obolibrary.org/obo/MONDO_0021082	Meckel diverticulum neoplasm	http://purl.obolibrary.org/obo/MONDO_0006801	ileal neoplasm		A neoplasm involving a Meckel's diverticulum.
http://purl.obolibrary.org/obo/MONDO_0021084	vision disorder	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		Any impairment to the vision.
http://purl.obolibrary.org/obo/MONDO_0021085	gastric neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A benign or malignant neoplasm involving the stomach.
http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer	http://purl.obolibrary.org/obo/MONDO_0005872	nervous system cancer		Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location
http://purl.obolibrary.org/obo/MONDO_0021092	fallopian tube neoplasm	http://purl.obolibrary.org/obo/MONDO_0002156	fallopian tube disorder		A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.
http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder	http://purl.obolibrary.org/obo/MONDO_0003996	basal ganglia disorder		A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.
http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0015185	intestinal polyposis syndrome		An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.
http://purl.obolibrary.org/obo/MONDO_0021202	allergic otitis media	http://purl.obolibrary.org/obo/MONDO_0005441	otitis media		A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.
http://purl.obolibrary.org/obo/MONDO_0021205	disorder of ear	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		A disease that involves the ear.
http://purl.obolibrary.org/obo/MONDO_0021206	chronic non-suppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0021204	chronic otitis media		Chronic form of non-suppurative otitis media.
http://purl.obolibrary.org/obo/MONDO_0021207	Crohn jejunitis	http://purl.obolibrary.org/obo/MONDO_0005539	small bowel Crohn disease		A Crohn disease involving a pathogenic inflammatory response in the jejunum.
http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm	http://purl.obolibrary.org/obo/MONDO_0024757	cardiovascular neoplasm		A neoplasm (disease) that involves the heart.
http://purl.obolibrary.org/obo/MONDO_0021210	trachea neoplasm	http://purl.obolibrary.org/obo/MONDO_0020641	respiratory tract neoplasm		A neoplasm (disease) that involves the trachea.
http://purl.obolibrary.org/obo/MONDO_0021211	brain neoplasm	http://purl.obolibrary.org/obo/MONDO_0006130	central nervous system neoplasm		A neoplasm (disease) that involves the brain.
http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A neoplasm (disease) that involves the digestive system.
http://purl.obolibrary.org/obo/MONDO_0021230	uterine cervix neoplasm	http://purl.obolibrary.org/obo/MONDO_0021353	tumor of uterus		A neoplasm (disease) that involves the uterine cervix.
http://purl.obolibrary.org/obo/MONDO_0021234	spinal cord neoplasm	http://purl.obolibrary.org/obo/MONDO_0006130	central nervous system neoplasm		A neoplasm (disease) that involves the spinal cord.
http://purl.obolibrary.org/obo/MONDO_0021248	nervous system neoplasm	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A neoplasm (disease) that involves the nervous system.
http://purl.obolibrary.org/obo/MONDO_0021253	gallbladder neoplasm	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		A neoplasm (disease) that involves the gall bladder.
http://purl.obolibrary.org/obo/MONDO_0021254	corpus uteri neoplasm	http://purl.obolibrary.org/obo/MONDO_0021353	tumor of uterus		A neoplasm (disease) that involves the body of uterus.
http://purl.obolibrary.org/obo/HP_0020061	Abnormal hemoglobin concentration	http://purl.obolibrary.org/obo/HP_0001877	Abnormal erythrocyte morphology		Any deviation from the normal concentration of hemoglobin in the blood.
http://purl.obolibrary.org/obo/HP_0032039	Abnormality of the ocular adnexa	http://purl.obolibrary.org/obo/HP_0000315	Abnormality of the orbital region		An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
http://purl.obolibrary.org/obo/HP_0032040	Abnormal ocular adnexa physiology	http://purl.obolibrary.org/obo/HP_0032039	Abnormality of the ocular adnexa		A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
http://purl.obolibrary.org/obo/HP_0032045	Hypoplastic carotid canal	http://purl.obolibrary.org/obo/HP_0009911	Abnormal temporal bone morphology		Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.
http://purl.obolibrary.org/obo/HP_0410212	Hyperoxemia in cord blood	http://purl.obolibrary.org/obo/HP_0500259	Abnormal oxygen level in cord blood		An abnormally high level of blood oxygen in the cord blood.
http://purl.obolibrary.org/obo/HP_0410213	Hypoxemia in cord blood	http://purl.obolibrary.org/obo/HP_0500259	Abnormal oxygen level in cord blood		An abnormally low level of blood oxygen in the cord blood.
http://purl.obolibrary.org/obo/HP_0410214	Hypercapnia in cord blood	http://purl.obolibrary.org/obo/HP_0500258	Abnormal carbon dioxide level in cord blood		Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.
http://purl.obolibrary.org/obo/HP_0410215	Hypocapnia in cord blood	http://purl.obolibrary.org/obo/HP_0500258	Abnormal carbon dioxide level in cord blood		Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.
http://purl.obolibrary.org/obo/HP_0500148	Abnormal circulating glutamate concentration	http://purl.obolibrary.org/obo/HP_0010902	Abnormal circulating glutamine family amino acid concentration		Any deviation from the normal concentration of glutamate in the blood circulation.
http://purl.obolibrary.org/obo/HP_0410243	Abnormal circulating IgM concentration	http://purl.obolibrary.org/obo/HP_0010701	Abnormal circulating immunoglobulin concentration		An abnormal deviation from normal levels of IgM immunoglobulin in blood.
http://purl.obolibrary.org/obo/ECTO_0001591	exposure to occupation	http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process		An exposure event involving Occupation
http://purl.obolibrary.org/obo/MONDO_0020574	central nervous system nongerminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020539	extragonadal non-dysgerminomatous germ cell tumor		Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.
http://purl.obolibrary.org/obo/MONDO_0020575	polymorphic ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0005477	ventricular tachycardia		A ventricular tachycardia that is irregular in rate and rhythm.
http://purl.obolibrary.org/obo/MONDO_0020576	cutaneous vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		Inflammation of the blood vessel wall characterized by palpable purpura.
http://purl.obolibrary.org/obo/MONDO_0020577	childhood gonadal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0018202	gonadal germ cell tumor		A germ cell tumor that arises from the testis or ovary and occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0020580	germinomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0005040	germ cell tumor		A term that refers to germinoma, seminoma, or dysgerminoma.
http://purl.obolibrary.org/obo/MONDO_0020581	benign PEComa	http://purl.obolibrary.org/obo/MONDO_0044335	benign soft tissue neoplasm		A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.
http://purl.obolibrary.org/obo/MONDO_0020582	benign uterine ligament neoplasm	http://purl.obolibrary.org/obo/MONDO_0021629	uterine ligament neoplasm		A non-metastasizing neoplasm that arises from the uterine ligament.
http://purl.obolibrary.org/obo/MONDO_0020584	anemia due to enzyme disorder	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		Any form of anemia that results from the absence of, or the defective action of, any enzyme.
http://purl.obolibrary.org/obo/MONDO_0020585	anemia due to erythrocyte enzyme disorder	http://purl.obolibrary.org/obo/MONDO_0020584	anemia due to enzyme disorder		Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.
http://purl.obolibrary.org/obo/MONDO_0020590	mycobacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infection due to organisms from the genus Mycobacteria.
http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.
http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.
http://purl.obolibrary.org/obo/MONDO_0020599	acquired coagulation factor deficiency	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.
http://purl.obolibrary.org/obo/MONDO_0020602	Simpson-Golabi-Behmel syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010731	Simpson-Golabi-Behmel syndrome		Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.
http://purl.obolibrary.org/obo/MONDO_0020603	X-linked chondrodysplasia punctata 2	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
http://purl.obolibrary.org/obo/MONDO_0020604	X-linked dominant disease	http://purl.obolibrary.org/obo/MONDO_0000425	X-linked disease		X-linked dominant form of disease.
http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease	http://purl.obolibrary.org/obo/MONDO_0000425	X-linked disease		X-linked recessive form of disease.
http://purl.obolibrary.org/obo/MONDO_0020642	polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0019741	familial cystic renal disease		A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
http://purl.obolibrary.org/obo/MONDO_0020644	lung non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.
http://purl.obolibrary.org/obo/MONDO_0020645	autosomal dominant osteopetrosis	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		Autosomal dominant form of osteopetrosis (disease).
http://purl.obolibrary.org/obo/MONDO_0020646	ocular adnexal lymphoma	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type.
http://purl.obolibrary.org/obo/MONDO_0020680	acute bronchiolitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.
http://purl.obolibrary.org/obo/MONDO_0020683	acute disease	http://purl.obolibrary.org/obo/MONDO_0700096	human disease		Disease having a short and relatively severe course.
http://purl.obolibrary.org/obo/MONDO_0020686	acute tonsillitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.
http://purl.obolibrary.org/obo/MONDO_0020689	AIDS dementia complex	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)
http://purl.obolibrary.org/obo/MONDO_0020696	vitamin B12 deficiency	http://purl.obolibrary.org/obo/MONDO_0042976	vitamin B deficiency		A disease characterized by low serum levels of vitamin B12, either inherited or acquired.
http://purl.obolibrary.org/obo/MONDO_0020710	amnionitis	http://purl.obolibrary.org/obo/MONDO_0045013	disorder of extraembryonic membrane		Inflammation of the amnion.
http://purl.obolibrary.org/obo/MONDO_0020725	anemia due to chronic disorder	http://purl.obolibrary.org/obo/MONDO_0002280	anemia		Anemia due to a disorder that is persistent or long-standing in nature.
http://purl.obolibrary.org/obo/MONDO_0020767	cauda equina syndrome with neurogenic bladder	http://purl.obolibrary.org/obo/MONDO_0005693	cauda equina syndrome		A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disk herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.
http://purl.obolibrary.org/obo/MONDO_0020773	cerebrospinal fluid rhinorrhea	http://purl.obolibrary.org/obo/MONDO_0043327	cerebrospinal fluid leak		Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)
http://purl.obolibrary.org/obo/MONDO_0020779	cartilage development disorder	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		Any dysfunction in the growth of cartilage.
http://purl.obolibrary.org/obo/MONDO_0020782	chronic gingivitis	http://purl.obolibrary.org/obo/MONDO_0002508	gingivitis		Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.
http://purl.obolibrary.org/obo/MONDO_0020797	decompression sickness	http://purl.obolibrary.org/obo/MONDO_0002570	high pressure neurological syndrome		A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.
http://purl.obolibrary.org/obo/MONDO_0020800	demyelinating disease of central nervous system	http://purl.obolibrary.org/obo/MONDO_0002562	demyelinating disease		Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.
http://purl.obolibrary.org/obo/MONDO_0020812	exposure, dental pulp	http://purl.obolibrary.org/obo/MONDO_0003394	dental pulp disorder		The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.
http://purl.obolibrary.org/obo/MONDO_0020815	dentigerous cyst	http://purl.obolibrary.org/obo/MONDO_0006328	odontogenic cyst		Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.
http://purl.obolibrary.org/obo/MONDO_0020818	secondary dentine	http://purl.obolibrary.org/obo/MONDO_0003394	dental pulp disorder		Dentin formed by normal pulp after completion of root end formation.
http://purl.obolibrary.org/obo/MONDO_0020838	anterior nasal diphtheria	http://purl.obolibrary.org/obo/MONDO_0005504	diphtheria		Infection of the anterior nasal structures by Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/MONDO_0020840	pulmonary alveolar proteinosis with hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes.
http://purl.obolibrary.org/obo/MONDO_0020841	neurodevelopmental disorder with cerebellar atrophy and with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		An an autosomal recessive disorder characterized by intellectual disability associated with ataxia, in which the cause of the disease is a variation in the BRAT1 gene.
http://purl.obolibrary.org/obo/MONDO_0020843	pseudomembranous diphtheritic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005504	diphtheria		Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/MONDO_0020860	faucial diphtheria	http://purl.obolibrary.org/obo/MONDO_0005504	diphtheria		Infection of the fauces by Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/MONDO_0020863	laryngeal diphtheria	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		Infection of the larynx by Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/MONDO_0020866	nasopharyngeal diphtheria	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		Infection of the nasopharynx by Corynebacterium diphtheriae.
http://purl.obolibrary.org/obo/MONDO_0020920	escherichia coli infection	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infection with the organism Escherichia Coli.
http://purl.obolibrary.org/obo/MONDO_0020944	fungal infection of eye	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.
http://purl.obolibrary.org/obo/MONDO_0020947	parasitic eye infection	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.
http://purl.obolibrary.org/obo/MONDO_0020950	viral eye infection	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.
http://purl.obolibrary.org/obo/MONDO_0020959	Mansonella ozzardi infection	http://purl.obolibrary.org/obo/MONDO_0005838	mansonelliasis		An infection that is caused by the organism Mansonella ozzardi.
http://purl.obolibrary.org/obo/MONDO_0020971	gonococcal urethritis	http://purl.obolibrary.org/obo/MONDO_0005297	urethritis		Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.
http://purl.obolibrary.org/obo/MONDO_0020974	laryngeal granuloma	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.
http://purl.obolibrary.org/obo/MONDO_0020977	granulomatous prostatitis	http://purl.obolibrary.org/obo/MONDO_0005280	prostatitis		An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.
http://purl.obolibrary.org/obo/MONDO_0020980	hair nevus	http://purl.obolibrary.org/obo/MONDO_0020979	pilosebaceous hamartoma		A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.
http://purl.obolibrary.org/obo/MONDO_0020983	myocardial rupture	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION).
http://purl.obolibrary.org/obo/MONDO_0020989	hereditary persistence of fetal hemoglobin	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.
http://purl.obolibrary.org/obo/MONDO_0021032	herpes zoster with dermatitis of eyelid	http://purl.obolibrary.org/obo/MONDO_0020950	viral eye infection		A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.
http://purl.obolibrary.org/obo/MONDO_0021175	herpetic vulvovaginitis	http://purl.obolibrary.org/obo/MONDO_0023557	infective vaginitis		Infection of the vulva and the vagina caused by herpes simplex virus.
http://purl.obolibrary.org/obo/MONDO_0021334	immunoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.
http://purl.obolibrary.org/obo/MONDO_0021340	intertrigo	http://purl.obolibrary.org/obo/MONDO_0002406	dermatitis		A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.
http://purl.obolibrary.org/obo/MONDO_0021377	hypertrophic lichen planus	http://purl.obolibrary.org/obo/MONDO_0006572	lichen planus		A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.
http://purl.obolibrary.org/obo/MONDO_0021559	non-autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia		Hemolytic anemia that is not mediated by immune mechanisms.
http://purl.obolibrary.org/obo/MONDO_0021562	omphalitis	http://purl.obolibrary.org/obo/MONDO_0021166	inflammatory disease		Inflammation of the umbilical cord stump in newborns.
http://purl.obolibrary.org/obo/MONDO_0021718	polyneuritis	http://purl.obolibrary.org/obo/MONDO_0002122	neuritis		Inflammation of several peripheral nerves.
http://purl.obolibrary.org/obo/MONDO_0021736	proctosigmoiditis	http://purl.obolibrary.org/obo/MONDO_0024278	proctocolitis		Inflammation of the sigmoid colon and rectum.
http://purl.obolibrary.org/obo/MONDO_0021739	prurigo	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)
http://purl.obolibrary.org/obo/MONDO_0021742	puerperal infection	http://purl.obolibrary.org/obo/MONDO_0044013	puerperal disorder		An infection occurring in puerperium, the period of 6-8 weeks after giving birth.
http://purl.obolibrary.org/obo/MONDO_0021750	pyonephrosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		Pus within the collecting system of the kidney.
http://purl.obolibrary.org/obo/MONDO_0021765	radiculitis	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.
http://purl.obolibrary.org/obo/MONDO_0021777	acute rheumatic heart disease	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).
http://purl.obolibrary.org/obo/MONDO_0021783	streptococcal sore throat	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		Inflammation of the throat due to Streptococcus pyogenes.
http://purl.obolibrary.org/obo/MONDO_0021804	silicotuberculosis	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.
http://purl.obolibrary.org/obo/MONDO_0021839	spirochaetales infections	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		Infections with bacteria of the order SPIROCHAETALES.
http://purl.obolibrary.org/obo/MONDO_0021895	temporomandibular joint dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0006862	myofascial pain syndrome		A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.
http://purl.obolibrary.org/obo/MONDO_0021925	tracheobronchitis	http://purl.obolibrary.org/obo/MONDO_0000270	lower respiratory tract disorder		Inflammation of the tracheobronchial tree.
http://purl.obolibrary.org/obo/MONDO_0021929	traumatic myositis ossificans	http://purl.obolibrary.org/obo/MONDO_0003964	myositis ossificans		Myositis Ossificans resulting from trauma.
http://purl.obolibrary.org/obo/MONDO_0021932	infection by Trypanosoma gambiense	http://purl.obolibrary.org/obo/MONDO_0021201	skin infection		Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.
http://purl.obolibrary.org/obo/MONDO_0021941	infection by Trypanosoma rhodesiense	http://purl.obolibrary.org/obo/MONDO_0005459	human African trypanosomiasis		An infection with Trypanosoma brucei rhodesiense.
http://purl.obolibrary.org/obo/MONDO_0021943	tuberculoma	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		A tumor-like mass resulting from the enlargement of a tuberculous lesion.
http://purl.obolibrary.org/obo/MONDO_0021953	tuberculous fibrosis of lung	http://purl.obolibrary.org/obo/MONDO_0024355	respiratory tract infectious disorder		Scarring of the lung parenchyma caused by pulmonary tuberculosis.
http://purl.obolibrary.org/obo/MONDO_0021960	ureteritis	http://purl.obolibrary.org/obo/MONDO_0001926	ureteral disorder		An acute or chronic inflammatory process affecting the ureter.
http://purl.obolibrary.org/obo/MONDO_0022007	water intoxication	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		A condition resulting from the excessive retention of water with sodium depletion.
http://purl.obolibrary.org/obo/MONDO_0022034	lentivirus infection	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.
http://purl.obolibrary.org/obo/MONDO_0022037	large-cell immunoblastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan.
http://purl.obolibrary.org/obo/MONDO_0022096	pyogenic granuloma	http://purl.obolibrary.org/obo/MONDO_0002407	capillary hemangioma		A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma.
http://purl.obolibrary.org/obo/MONDO_0022103	chronic prostatitis	http://purl.obolibrary.org/obo/MONDO_0005280	prostatitis		An infectious or non-infectious chronic inflammatory process that affects the prostate gland.
http://purl.obolibrary.org/obo/MONDO_0022220	Parinaud syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.
http://purl.obolibrary.org/obo/MONDO_0022293	vascular disorder of penis	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.
http://purl.obolibrary.org/obo/MONDO_0022435	Mauriac syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.
http://purl.obolibrary.org/obo/MONDO_0022538	leukoplakia of gingiva	http://purl.obolibrary.org/obo/MONDO_0004844	oral mucosa leukoplakia		A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.
http://purl.obolibrary.org/obo/MONDO_0022742	occupational asthma	http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease		Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.
http://purl.obolibrary.org/obo/MONDO_0022749	non-neoplastic nevus	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.
http://purl.obolibrary.org/obo/MONDO_0023023	neonatal dacryocystitis	http://purl.obolibrary.org/obo/MONDO_0004926	dacryocystitis		Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.
http://purl.obolibrary.org/obo/MONDO_0023054	klumpke's paralysis	http://purl.obolibrary.org/obo/MONDO_0006496	palsy		Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.
http://purl.obolibrary.org/obo/MONDO_0023153	tuberculous ascites	http://purl.obolibrary.org/obo/MONDO_0000369	abdominal tuberculosis		A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.
http://purl.obolibrary.org/obo/MONDO_0023161	viral myocarditis	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Myocarditis that is caused by an infection with a viral agent.
http://purl.obolibrary.org/obo/MONDO_0023164	viral pericarditis	http://purl.obolibrary.org/obo/MONDO_0100329	primary viral infectious disease		Pericarditis that is caused by an infection with a viral agent.
http://purl.obolibrary.org/obo/MONDO_0023246	linear porokeratosis	http://purl.obolibrary.org/obo/MONDO_0006602	porokeratosis		Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.
http://purl.obolibrary.org/obo/MONDO_0023273	pigmented dermatofibrosarcoma protuberans	http://purl.obolibrary.org/obo/MONDO_0011934	dermatofibrosarcoma protuberans		A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.
http://purl.obolibrary.org/obo/MONDO_0023388	pityriasis rotunda	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.
http://purl.obolibrary.org/obo/MONDO_0023415	congenital candidiasis	http://purl.obolibrary.org/obo/MONDO_0002026	candidiasis		A fungal infection by any of the Candida species that is present at birth.
http://purl.obolibrary.org/obo/MONDO_0023551	C1q nephropathy	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.
http://purl.obolibrary.org/obo/MONDO_0023554	acquired testicular failure	http://purl.obolibrary.org/obo/MONDO_0002329	testicular disorder		Testicular failure, the cause of which is not present at birth.
http://purl.obolibrary.org/obo/MONDO_0023557	infective vaginitis	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		An infectious process affecting the vagina. Symptoms include pain and purulent discharge.
http://purl.obolibrary.org/obo/MONDO_0023595	congenital myotonic dystrophy	http://purl.obolibrary.org/obo/MONDO_0016107	myotonic dystrophy		Myotonic dystrophy that is present at birth.
http://purl.obolibrary.org/obo/MONDO_0023599	mesomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).
http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue	http://purl.obolibrary.org/obo/MONDO_0003900	connective tissue disorder		An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
http://purl.obolibrary.org/obo/MONDO_0023679	hematohidrosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.
http://purl.obolibrary.org/obo/MONDO_0023682	tympanic paraganglioma	http://purl.obolibrary.org/obo/MONDO_0015071	middle ear neuroendocrine tumor		A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.
http://purl.obolibrary.org/obo/MONDO_0023865	corneal infection	http://purl.obolibrary.org/obo/MONDO_0016047	endophthalmitis		A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.
http://purl.obolibrary.org/obo/MONDO_0023868	melanoma associated retinopathy	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.
http://purl.obolibrary.org/obo/MONDO_0025956	ovarian remnant syndrome	http://purl.obolibrary.org/obo/MONDO_0005558	ovarian disorder		Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.
http://purl.obolibrary.org/obo/MONDO_0026045	prurigo nodularis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.
http://purl.obolibrary.org/obo/MONDO_0027026	Buschke Lowenstein tumor	http://purl.obolibrary.org/obo/MONDO_0006006	verrucous carcinoma		A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.
http://purl.obolibrary.org/obo/MONDO_0060768	gingival fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0060765	fibroepithelial polyp		A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.
http://purl.obolibrary.org/obo/MONDO_0060774	vaginal fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0060765	fibroepithelial polyp		A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0060777	cervical fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0060765	fibroepithelial polyp		A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.
http://purl.obolibrary.org/obo/MONDO_0060779	acquired Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0001083	Fanconi renotubular syndrome		Fanconi Syndrome caused by exposure to noxious agents.
http://purl.obolibrary.org/obo/MONDO_0060783	classic congenital adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0018479	congenital adrenal hyperplasia		A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.
http://purl.obolibrary.org/obo/MONDO_0200000	uterine ligament adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0003612	uterine ligament cancer		An extremely rare adenosarcoma that arises from the uterine ligament.
http://purl.obolibrary.org/obo/MONDO_0020588	lung PEComa	http://purl.obolibrary.org/obo/MONDO_0021117	lung neoplasm		A lung tumor that arises from perivascular epithelioid cells (PECs).
http://purl.obolibrary.org/obo/MONDO_0020654	renal pelvis/ureter urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0040679	urothelial carcinoma		A transitional cell carcinoma that arises from the renal pelvis and ureter.
http://purl.obolibrary.org/obo/MONDO_0020656	human papillomavirus-related penile squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020657	human papillomavirus-related squamous cell carcinoma		A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma.
http://purl.obolibrary.org/obo/MONDO_0020663	malignant spindle cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		A malignant neoplasm characterized by the presence of atypical spindle cells.
http://purl.obolibrary.org/obo/MONDO_0020685	infratentorial ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0004245	ependymal tumor of brain		An ependymal tumor arising from the infratentorial region of the brain.
http://purl.obolibrary.org/obo/MONDO_0020687	supratentorial ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0004245	ependymal tumor of brain		An ependymal tumor arising from the supratentorial region of the brain.
http://purl.obolibrary.org/obo/MONDO_0060765	fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0005079	polyp		A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.
http://purl.obolibrary.org/obo/MONDO_0100064	tyrosine hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0019219	inborn disorder of neurotransmitter metabolism and transport		Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).
http://purl.obolibrary.org/obo/MONDO_0060778	adult Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0001083	Fanconi renotubular syndrome		A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired.
http://purl.obolibrary.org/obo/MONDO_0100058	hypervalinemia and hyperleucine-isoleucinemia	http://purl.obolibrary.org/obo/MONDO_0019242	inborn disorder of branched-chain amino acid metabolism		Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.
http://purl.obolibrary.org/obo/MONDO_0100059	hypereosinophilia of undetermined significance	http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome		Long-lasting, unexplained and asymptomatic blood hypereosinophilia.
http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.
http://purl.obolibrary.org/obo/MONDO_0100063	Pericytoma with t(7;12)	http://purl.obolibrary.org/obo/MONDO_0002604	pericytic neoplasm		A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.
http://purl.obolibrary.org/obo/MONDO_0100065	TH-deficient infantile parkinsonism and motor delay	http://purl.obolibrary.org/obo/MONDO_0100064	tyrosine hydroxylase deficiency		A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).
http://purl.obolibrary.org/obo/MONDO_0100066	TH-deficient progressive infantile encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100064	tyrosine hydroxylase deficiency		A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.
http://purl.obolibrary.org/obo/HP_0032367	Abnormal growth hormone level	http://purl.obolibrary.org/obo/HP_0003117	Abnormal circulating hormone concentration		Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.
http://purl.obolibrary.org/obo/HP_0032363	Decreased circulating corticosterone level	http://purl.obolibrary.org/obo/HP_0012112	Abnormal circulating corticosterone level		An abnormally reduced concentration of corticosterone in the blood.
http://purl.obolibrary.org/obo/HP_0032443	Past medical history	http://purl.obolibrary.org/obo/HP_0000001	All		In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.
http://purl.obolibrary.org/obo/HP_0032453	Abnormal lip pigmentation	http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology		Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.
http://purl.obolibrary.org/obo/HP_0032485	Abnormal fecal osmolality	http://purl.obolibrary.org/obo/HP_0031685	Abnormal stool composition		Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.
http://purl.obolibrary.org/obo/MONDO_0100080	cardioectodermal syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndromic disease with phenotypic manifestations in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.
http://purl.obolibrary.org/obo/MONDO_0100081	sleep disorder	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.
http://purl.obolibrary.org/obo/FOODON_00003203	food harvesting	http://purl.obolibrary.org/obo/FOODON_00002451	food transformation process		A process which takes in some food material from an individual or community of plant or animal organisms in a given context and time, and outputs a precursor or consumable food product. This may include a part of an organism or the whole, and may involve killing the organism.
http://purl.obolibrary.org/obo/MAXO_0000167	anticonvulsant agent therapy	http://purl.obolibrary.org/obo/MAXO_0000260	central nervous system agent therapy		Treatment with a drug used to prevent seizures or reduce their severity.
http://purl.obolibrary.org/obo/MAXO_0000061	antibacterial agent therapy	http://purl.obolibrary.org/obo/MAXO_0001021	antimicrobial agent therapy		Use of a drug to treat or prevent bacterial infections.
http://purl.obolibrary.org/obo/MAXO_0000062	antineoplastic therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Use of a substance that inhibits or prevents the proliferation of neoplasms.
http://purl.obolibrary.org/obo/MAXO_0000158	antiparasititic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000325	anti-infective agent therapy		Use of a substance used to treat or prevent parasitic infections.
http://purl.obolibrary.org/obo/MAXO_0000159	analgesic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000457	pain management		A therapy capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms.
http://purl.obolibrary.org/obo/MAXO_0000161	receptor antagonist therapy	http://purl.obolibrary.org/obo/MAXO_0000644	molecular pathway modifying agent therapy		Use of a substance that attaches to and blocks cell receptors.
http://purl.obolibrary.org/obo/MAXO_0000170	anesthetic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		A therapy utilizing a substance which produces loss of feeling or sensation.
http://purl.obolibrary.org/obo/MAXO_0000174	anti-fungal agent therapy	http://purl.obolibrary.org/obo/MAXO_0000325	anti-infective agent therapy		Use of a drug to prevent or treat fungal infections in humans or animals.
http://purl.obolibrary.org/obo/MAXO_0000193	non-opioid analgesic therapy	http://purl.obolibrary.org/obo/MAXO_0000159	analgesic agent therapy		Use of a drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors.
http://purl.obolibrary.org/obo/MAXO_0000195	local anaesthetic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000170	anesthetic agent therapy		Treatment with any member of a group of drugs that reversibly inhibit the propagation of signals along nerves. Wide variations in potency, stability, toxicity, water-solubility and duration of action determine the route used for administration, e.g. topical, intravenous, epidural or spinal block.
http://purl.obolibrary.org/obo/MAXO_0000198	penicillin agent therapy	http://purl.obolibrary.org/obo/MAXO_0000432	beta-lactam antibacterial agent therapy		Use of an antibacterial substance with penicillin structure.
http://purl.obolibrary.org/obo/MAXO_0000203	tetracycline therapy	http://purl.obolibrary.org/obo/MAXO_0000240	antiprotozoal agent therapy		Treatment with a broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria.
http://purl.obolibrary.org/obo/MAXO_0000206	GABA augmenting agent therapy	http://purl.obolibrary.org/obo/MAXO_0001336	neurotransmitter agent therapy		Treatment with a substance, such as agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function, used for its pharmacological actions on GABAergic systems.
http://purl.obolibrary.org/obo/MAXO_0000208	sodium channel inhibitor therapy	http://purl.obolibrary.org/obo/MAXO_0000167	anticonvulsant agent therapy		Use of a drug that inhibits sodium influx through cell membranes.
http://purl.obolibrary.org/obo/MAXO_0000211	glutamatergic pathway modifying agent therapy	http://purl.obolibrary.org/obo/MAXO_0000171	antidementia agent therapy		Treatment with an agent which modifies glutamate.
http://purl.obolibrary.org/obo/MAXO_0000240	antiprotozoal agent therapy	http://purl.obolibrary.org/obo/MAXO_0001021	antimicrobial agent therapy		Treatment with an antimicrobial drug which is used to treat or prevent protozoal infections.
http://purl.obolibrary.org/obo/MAXO_0000257	antidiabetic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Treatment with any agent that treats or prevents diabetes or diabetes symptoms.
http://purl.obolibrary.org/obo/MAXO_0000261	amphetamine agent therapy	http://purl.obolibrary.org/obo/MAXO_0000438	stimulant ADHD agent therapy		Treatment with a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine.
http://purl.obolibrary.org/obo/MAXO_0000265	dermatological agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Use of a drug to treat or prevent skin disorders or for the routine care of skin.
http://purl.obolibrary.org/obo/MAXO_0000295	immunological agent therapy	http://purl.obolibrary.org/obo/MAXO_0001002	immunotherapy procedure		Use of a drug that induces, enhances, restores or suppresses the host's immune system, or an agent that utilizes or is derived from a component of the immune system.
http://purl.obolibrary.org/obo/MAXO_0000297	immune suppressant agent therapy	http://purl.obolibrary.org/obo/MAXO_0000295	immunological agent therapy		Use of an agent that suppresses immune function by one of several mechanisms of action.
http://purl.obolibrary.org/obo/MAXO_0000325	anti-infective agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Use of a substance for the prophylaxis or therapy of infectious diseases.
http://purl.obolibrary.org/obo/MAXO_0000432	beta-lactam antibacterial agent therapy	http://purl.obolibrary.org/obo/MAXO_0000061	antibacterial agent therapy		Use of an organonitrogen heterocyclic antibiotic that contains a beta-lactam ring.
http://purl.obolibrary.org/obo/MAXO_0000436	NMDA receptor antagonist therapy	http://purl.obolibrary.org/obo/MAXO_0000161	receptor antagonist therapy		Treatment with  a drug that inhibits the action of N-methyl-D-aspartate (NMDA) receptors.
http://purl.obolibrary.org/obo/MAXO_0000457	pain management	http://purl.obolibrary.org/obo/MAXO_0000002	therapeutic procedure		The management of pain by interventional procedures, pharmacotherapy, physical therapy, psychological counseling, or complementary and alternative medical therapies designed to treat or alleviate pain.
http://purl.obolibrary.org/obo/MAXO_0000499	therapeutic procedure of respiratory system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring respiratory system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001020	general anesthetic agent therapy	http://purl.obolibrary.org/obo/MAXO_0000170	anesthetic agent therapy		A therapy utilizing a substance that produces loss of consciousness.
http://purl.obolibrary.org/obo/MAXO_0001021	antimicrobial agent therapy	http://purl.obolibrary.org/obo/MAXO_0000325	anti-infective agent therapy		Use of a drug or therapy to treat or prevent microbial infections.
http://purl.obolibrary.org/obo/MONDO_0100192	liver failure	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		A liver disease characterized by the liver losing or has lost all of its function.
http://purl.obolibrary.org/obo/CL_0010017	zygote	http://purl.obolibrary.org/obo/CL_0000000	cell		A zygote in a plant or an animal.
http://purl.obolibrary.org/obo/CL_4006000	fibroblast of breast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		A fibroblast that is part of the breast.
http://purl.obolibrary.org/obo/CL_4006001	fibroblast of skin of scalp	http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast		A fibroblast that is part of the skin of scalp.
http://purl.obolibrary.org/obo/HP_0033642	Mitral valve leaflet calcification	http://purl.obolibrary.org/obo/HP_0004382	Mitral valve calcification		Deposition of calcium salts in the leaflets (cusps) of the mitral valve.
http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa	http://purl.obolibrary.org/obo/MONDO_0016175	cutis laxa		An instance of cutis laxa that is inherited.
http://purl.obolibrary.org/obo/MONDO_0100238	inherited Fanconi renotubular syndrome	http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease		An instance of Fanconi renotubular syndrome that is inherited.
http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia	http://purl.obolibrary.org/obo/MONDO_0002305	thrombophilia		An instance of thrombophilia that is inherited.
http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An inherited susceptibility or predisposition to developing glioma.
http://purl.obolibrary.org/obo/MONDO_0100244	paroxysmal nocturnal hemoglobinuria	http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis		Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
http://purl.obolibrary.org/obo/MONDO_0100248	rapidly progressive primary central nervous system vasculitis	http://purl.obolibrary.org/obo/MONDO_0015374	primary central nervous system vasculitis		A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.
http://purl.obolibrary.org/obo/MONDO_0100255	adenosine kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.
http://purl.obolibrary.org/obo/MONDO_0100285	extrahepatic biliary atresia	http://purl.obolibrary.org/obo/MONDO_0008867	biliary atresia		A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.
http://purl.obolibrary.org/obo/MONDO_0100286	respiratory syncytial virus bronchiolitis	http://purl.obolibrary.org/obo/MONDO_0002465	bronchiolitis		Bronciolitis caused by infection with respiratory syncytial virus.
http://purl.obolibrary.org/obo/MONDO_0100288	enhanced S-cone syndrome	http://purl.obolibrary.org/obo/MONDO_0020248	vitreoretinal degeneration		An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
http://purl.obolibrary.org/obo/MONDO_0100289	Goldmann-Favre syndrome	http://purl.obolibrary.org/obo/MONDO_0100288	enhanced S-cone syndrome		A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
http://purl.obolibrary.org/obo/MONDO_0100463	methylmalonic aciduria and/or homocystinuria, cblD type	http://purl.obolibrary.org/obo/MONDO_0019220	inborn disorder of cobalamin metabolism and transport		An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.
http://purl.obolibrary.org/obo/MONDO_0024777	immunodeficiency 98 with autoinflammation, X-linked	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.
http://purl.obolibrary.org/obo/MONDO_0030669	gastrointestinal defects and immunodeficiency syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030831	gastrointestinal defect and immunodeficiency syndrome		A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.
http://purl.obolibrary.org/obo/MONDO_0030797	retinitis pigmentosa 93	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		Any retinitis pigmentosa in which the cause of the disease is a mutation in the CC2D2A gene.
http://purl.obolibrary.org/obo/MONDO_0030798	immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.
http://purl.obolibrary.org/obo/MONDO_0100460	tobacco addiction, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing nicotine dependence.
http://purl.obolibrary.org/obo/MONDO_0700073	glutaric acidemia IIa	http://purl.obolibrary.org/obo/MONDO_0009282	multiple acyl-CoA dehydrogenase deficiency		Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.
http://purl.obolibrary.org/obo/MONDO_0700074	glutaric acidemia IIb	http://purl.obolibrary.org/obo/MONDO_0009282	multiple acyl-CoA dehydrogenase deficiency		Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.
http://purl.obolibrary.org/obo/MONDO_0700076	glutaric acidemia IIc	http://purl.obolibrary.org/obo/MONDO_0009282	multiple acyl-CoA dehydrogenase deficiency		Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.
http://purl.obolibrary.org/obo/MONDO_0100046	exfoliation syndrome, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing exfoliation syndrome.
http://purl.obolibrary.org/obo/MONDO_0800109	persistent tachypnoe of infancy	http://purl.obolibrary.org/obo/MONDO_0017019	interstitial lung disease specific to infancy		A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.
http://purl.obolibrary.org/obo/MONDO_0800110	persistent tachypnoe of infancy, aberrant	http://purl.obolibrary.org/obo/MONDO_0800109	persistent tachypnoe of infancy		Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).
http://purl.obolibrary.org/obo/MONDO_0800111	persistent tachypnoe of infancy, usual	http://purl.obolibrary.org/obo/MONDO_0800109	persistent tachypnoe of infancy		Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).
http://purl.obolibrary.org/obo/MONDO_0800114	follicular bronchiolits	http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia		A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.
http://purl.obolibrary.org/obo/MONDO_0800117	cutaneous botryomycosis	http://purl.obolibrary.org/obo/MONDO_0400006	botryomycosis		A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).
http://purl.obolibrary.org/obo/MONDO_0800118	visceral botryomycosis	http://purl.obolibrary.org/obo/MONDO_0400006	botryomycosis		A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.
http://purl.obolibrary.org/obo/MONDO_0800119	postinfectious bronchiolitis obliterans	http://purl.obolibrary.org/obo/MONDO_0002465	bronchiolitis		An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.
http://purl.obolibrary.org/obo/MONDO_0800120	Mac-Leod-Swyer-James-Syndrome	http://purl.obolibrary.org/obo/MONDO_0002465	bronchiolitis		A rare lung condition characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.
http://purl.obolibrary.org/obo/MONDO_0800121	cellular interstitial pneumonitis	http://purl.obolibrary.org/obo/MONDO_0017019	interstitial lung disease specific to infancy		An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.
http://purl.obolibrary.org/obo/MONDO_0800123	bronchiolocentric pattern of interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.
http://purl.obolibrary.org/obo/MONDO_0800124	Lane Hamilton syndrome	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.
http://purl.obolibrary.org/obo/MONDO_0800125	disseminated visceral giant cell angiitis	http://purl.obolibrary.org/obo/MONDO_0800113	necrotizing vasculitis		A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.
http://purl.obolibrary.org/obo/MONDO_0800126	dystrophic pulmonary ossification	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.
http://purl.obolibrary.org/obo/MONDO_0800127	pulmonary amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018634	hereditary amyloidosis		A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.
http://purl.obolibrary.org/obo/MONDO_0800128	combined immunodeficiency due to POLE2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		Any combined immunodeficiency due to a deficiency in the POLE2 gene.
http://purl.obolibrary.org/obo/MONDO_0800129	autoinflammatory disease, X-linked	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.
http://purl.obolibrary.org/obo/MONDO_0800130	autoinflammatory syndrome with immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.
http://purl.obolibrary.org/obo/MONDO_0800131	hyper-IgE recurrent infection syndrome 4A, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018037	hyper-IgE syndrome		An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.
http://purl.obolibrary.org/obo/MONDO_0800132	autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy.
http://purl.obolibrary.org/obo/MONDO_0800133	pulmonary hypoplasia	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements.
http://purl.obolibrary.org/obo/MONDO_0800175	cardiogenic shock	http://purl.obolibrary.org/obo/MONDO_0005267	heart disorder		A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.
http://purl.obolibrary.org/obo/MONDO_0800176	black widow spider envenomation	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).
http://purl.obolibrary.org/obo/MONDO_0800177	frostbite	http://purl.obolibrary.org/obo/MONDO_0021178	injury		An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold.
http://purl.obolibrary.org/obo/MONDO_0800178	platinum-induced ototoxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.
http://purl.obolibrary.org/obo/MONDO_0800179	periprosthetic joint infection	http://purl.obolibrary.org/obo/MONDO_0004471	bacterial arthritis		A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.
http://purl.obolibrary.org/obo/MONDO_0800187	immunodeficiency 83, susceptibility to viral infections	http://purl.obolibrary.org/obo/MONDO_0800174	encephalitis, acute, infection-induced, susceptibility to		An inherited susceptibility or predisposition to developing viral infections.
http://purl.obolibrary.org/obo/MAXO_0001336	neurotransmitter agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		Use of a drug or agent that modulates neurotransmitter signaling.
http://purl.obolibrary.org/obo/MONDO_0700225	hereditary gallbladder disorder	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		An instance of gallbladder disorder that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0100499	multiple congenital anomalies due to 14q32.2 imprinting defect	http://purl.obolibrary.org/obo/MONDO_0019042	multiple congenital anomalies/dysmorphic syndrome		Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including "coat-hanger ribs", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).
http://purl.obolibrary.org/obo/MONDO_0100351	POLD1-related polyposis and colorectal cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0000147	polyposis		An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
http://purl.obolibrary.org/obo/MONDO_0100507	multiple congenital anomalies due to 14q32.2 paternally expressed gene defect	http://purl.obolibrary.org/obo/MONDO_0100499	multiple congenital anomalies due to 14q32.2 imprinting defect		Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).
http://purl.obolibrary.org/obo/MONDO_0100508	salivary gland type cancer of the breast	http://purl.obolibrary.org/obo/MONDO_0007254	breast cancer		A group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.
http://purl.obolibrary.org/obo/MONDO_0800439	syndromic complex neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.
http://purl.obolibrary.org/obo/MONDO_0800440	HAND1 related congenital heart defect	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle.
http://purl.obolibrary.org/obo/MONDO_0800441	NKX2.5-related congenital, conduction and myopathic heart disease	http://purl.obolibrary.org/obo/MONDO_0005217	familial cardiomyopathy		A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.
http://purl.obolibrary.org/obo/MONDO_0800442	MYH-6 related congenital heart defects	http://purl.obolibrary.org/obo/MONDO_0000119	congenital heart defects, multiple types		A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.
http://purl.obolibrary.org/obo/MONDO_0800443	DEAF1-associated neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.
http://purl.obolibrary.org/obo/MONDO_0850098	oligoasthenoteratozoospermia	http://purl.obolibrary.org/obo/MONDO_0005372	male infertility		A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.
http://purl.obolibrary.org/obo/MONDO_0850126	testicular sex cord-stromal benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0003125	testicular sex cord-stromal neoplasm		A sex cord-stromal benign neoplasm that arises from the testis.
http://purl.obolibrary.org/obo/MONDO_0850144	germ cell benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		A benign neoplasm that derives from germ cells.
http://purl.obolibrary.org/obo/MONDO_0850150	kidney cortex disease	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		A kidney disease that is located in the kidney cortex.
http://purl.obolibrary.org/obo/MONDO_0850170	spinal muscular atrophy type 0	http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy		A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.
http://purl.obolibrary.org/obo/MONDO_0850196	medulloblastoma WNT activated	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.
http://purl.obolibrary.org/obo/MONDO_0850197	medulloblastoma SHH activated	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.
http://purl.obolibrary.org/obo/MONDO_0850198	medulloblastoma non-WNT/non-SHH	http://purl.obolibrary.org/obo/MONDO_0007959	medulloblastoma		A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.
http://purl.obolibrary.org/obo/MONDO_0850225	autoimmune cholangitis	http://purl.obolibrary.org/obo/MONDO_0016264	autoimmune hepatitis		An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.
http://purl.obolibrary.org/obo/MONDO_0850230	chronic urticaria	http://purl.obolibrary.org/obo/MONDO_0005492	urticaria		An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.
http://purl.obolibrary.org/obo/MONDO_0850231	erythema nodosum	http://purl.obolibrary.org/obo/MONDO_0006591	panniculitis		A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.
http://purl.obolibrary.org/obo/MONDO_0850257	mucinous pancreas adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006047	pancreatic adenocarcinoma		A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.
http://purl.obolibrary.org/obo/MONDO_0850267	childhood acute megakaryoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0018872	acute megakaryoblastic leukemia		An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.
http://purl.obolibrary.org/obo/MONDO_0850269	core binding factor acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.
http://purl.obolibrary.org/obo/MONDO_0850271	myeloid leukemia associated with down syndrome	http://purl.obolibrary.org/obo/MONDO_0018872	acute megakaryoblastic leukemia		An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene.
http://purl.obolibrary.org/obo/MONDO_0850282	chronic asthma	http://purl.obolibrary.org/obo/MONDO_0004979	asthma		An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.
http://purl.obolibrary.org/obo/MONDO_0850283	acute asthma	http://purl.obolibrary.org/obo/MONDO_0004979	asthma		An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.
http://purl.obolibrary.org/obo/MONDO_0850284	extrinsic asthma	http://purl.obolibrary.org/obo/MONDO_0850282	chronic asthma		A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.
http://purl.obolibrary.org/obo/MONDO_0850285	environmental induced asthma	http://purl.obolibrary.org/obo/MONDO_0004765	intrinsic asthma		An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter.
http://purl.obolibrary.org/obo/MONDO_0850286	exercise-induced bronchoconstriction	http://purl.obolibrary.org/obo/MONDO_0004765	intrinsic asthma		An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.
http://purl.obolibrary.org/obo/MONDO_0850287	aspirin-induced respiratory disease	http://purl.obolibrary.org/obo/MONDO_0004765	intrinsic asthma		An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.
http://purl.obolibrary.org/obo/MONDO_0850289	human betaherpesvirus 5 infectious disease	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		A disease caused by infection with Human betaherpesvirus 5.
http://purl.obolibrary.org/obo/MONDO_0850301	pemphigoid	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.
http://purl.obolibrary.org/obo/MONDO_0850302	intracranial meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that arises within the cranial cavity.
http://purl.obolibrary.org/obo/MONDO_0850303	supratentorial meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A meningioma that affects the supratentorial brain.
http://purl.obolibrary.org/obo/MONDO_0850306	latent autoimmune diabetes in adults	http://purl.obolibrary.org/obo/MONDO_0005147	type 1 diabetes mellitus		A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0850312	anaplastic pleomorphic xanthoastrocytoma	http://purl.obolibrary.org/obo/MONDO_0021636	astrocytic tumor		A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.
http://purl.obolibrary.org/obo/MONDO_0850332	IDH-mutant anaplastic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016684	anaplastic astrocytoma		An anaplastic astrocytoma carrying IDH mutations.
http://purl.obolibrary.org/obo/MONDO_0850333	IDH-wildtype anaplastic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016684	anaplastic astrocytoma		An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.
http://purl.obolibrary.org/obo/MONDO_0850335	IDH-wildtype glioblastoma	http://purl.obolibrary.org/obo/MONDO_0018177	glioblastoma		A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.
http://purl.obolibrary.org/obo/MONDO_0850339	posterior fossa ependymoma	http://purl.obolibrary.org/obo/MONDO_0016700	anaplastic ependymoma		A high grade ependymoma that is located within the posterior fossa.
http://purl.obolibrary.org/obo/MONDO_0850340	supratentorial ependymoma	http://purl.obolibrary.org/obo/MONDO_0016700	anaplastic ependymoma		A high grade ependymoma that is located within the supratentorial brain.
http://purl.obolibrary.org/obo/MONDO_0850346	oral rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0005515	oral cavity cancer		A rhabdomyosarcoma located in the oral cavity.
http://purl.obolibrary.org/obo/MONDO_0850349	astroblastoma, MN1-altered	http://purl.obolibrary.org/obo/MONDO_0016707	astroblastoma		An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.
http://purl.obolibrary.org/obo/MONDO_0850353	castration-resistant prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_0005159	prostate carcinoma		A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.
http://purl.obolibrary.org/obo/MONDO_0850368	immunoglobulin heavy-and-light chain	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.
http://purl.obolibrary.org/obo/MONDO_0850415	rhabdomyolysis-myalgia syndrome	http://purl.obolibrary.org/obo/MONDO_0100150	RYR1-related myopathy		A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.
http://purl.obolibrary.org/obo/MONDO_0850416	autoimmune epilepsy	http://purl.obolibrary.org/obo/MONDO_0000568	autoimmune disorder of central nervous system		An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.
http://purl.obolibrary.org/obo/MONDO_0850417	tuberculous encephalopathy	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.
http://purl.obolibrary.org/obo/MONDO_0850418	diffuse large B-cell lymphoma activated B-cell type	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes.
http://purl.obolibrary.org/obo/MONDO_0850419	diffuse large B-cell lymphoma germinal center B-cell type	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification.
http://purl.obolibrary.org/obo/MONDO_0850420	acute necrotizing pancreatitis	http://purl.obolibrary.org/obo/MONDO_0006515	acute pancreatitis		An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.
http://purl.obolibrary.org/obo/MONDO_0850421	acute hemorrhagic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0006515	acute pancreatitis		An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.
http://purl.obolibrary.org/obo/MONDO_0850449	mixed phenotype acute leukemia with BCR-ABL1	http://purl.obolibrary.org/obo/MONDO_0020322	acute biphenotypic leukemia		An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.
http://purl.obolibrary.org/obo/MONDO_0850450	mixed phenotype acute leukemia with MLL rearranged	http://purl.obolibrary.org/obo/MONDO_0020322	acute biphenotypic leukemia		An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.
http://purl.obolibrary.org/obo/MONDO_0850451	mixed phenotype acute leukemia, B/myeloid	http://purl.obolibrary.org/obo/MONDO_0020322	acute biphenotypic leukemia		An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.
http://purl.obolibrary.org/obo/MONDO_0850452	mixed phenotype acute leukemia,T/myeloid	http://purl.obolibrary.org/obo/MONDO_0020322	acute biphenotypic leukemia		An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.
http://purl.obolibrary.org/obo/MONDO_0850468	BN2 diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.
http://purl.obolibrary.org/obo/MONDO_0850469	EZB diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding.
http://purl.obolibrary.org/obo/MONDO_0850470	MCD diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
http://purl.obolibrary.org/obo/MONDO_0850471	N1 diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features.
http://purl.obolibrary.org/obo/MONDO_0850472	ST2 diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding.
http://purl.obolibrary.org/obo/MONDO_0850473	A53 diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.
http://purl.obolibrary.org/obo/MONDO_0850492	acute myeloid leukemia, t(8;21)(q22; q22.1)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.
http://purl.obolibrary.org/obo/MONDO_0850495	acute myeloid leukemia, t(1;22)(p13;q13)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.
http://purl.obolibrary.org/obo/MONDO_0850618	injection anthrax	http://purl.obolibrary.org/obo/MONDO_0005119	anthrax infection		An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.
http://purl.obolibrary.org/obo/MONDO_0858910	dropped head syndrome	http://purl.obolibrary.org/obo/MONDO_0000812	vertebral column disorder		A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.
http://purl.obolibrary.org/obo/MONDO_0858916	pituitary blastoma	http://purl.obolibrary.org/obo/MONDO_0005565	blastoma		A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.
http://purl.obolibrary.org/obo/MONDO_0858917	cauda equina neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0003164	cauda equina neoplasm		A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.
http://purl.obolibrary.org/obo/MONDO_0858921	EWSR1-negative small round cell tumor	http://purl.obolibrary.org/obo/MONDO_0006974	small cell sarcoma		A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.
http://purl.obolibrary.org/obo/MONDO_0858926	developmental delay, hypotrophy, and dysmorphic features without moebius syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R).
http://purl.obolibrary.org/obo/MONDO_0858939	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	http://purl.obolibrary.org/obo/MONDO_1010030	pediatric high-grade glioma		A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.
http://purl.obolibrary.org/obo/MONDO_0858940	infant-type hemispheric glioma	http://purl.obolibrary.org/obo/MONDO_0021636	astrocytic tumor		A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.
http://purl.obolibrary.org/obo/MONDO_0858944	myxoid glioneuronal tumor	http://purl.obolibrary.org/obo/MONDO_0000628	central nervous system organ benign neoplasm		A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.
http://purl.obolibrary.org/obo/MONDO_0858950	traumatic brain injury	http://purl.obolibrary.org/obo/MONDO_0043510	brain injury		A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.
http://purl.obolibrary.org/obo/MONDO_0858956	diffuse leptomeningeal glioneuronal tumor	http://purl.obolibrary.org/obo/MONDO_0000628	central nervous system organ benign neoplasm		A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.
http://purl.obolibrary.org/obo/MONDO_0858957	multinodular and vacuolating neuronal tumor	http://purl.obolibrary.org/obo/MONDO_0000628	central nervous system organ benign neoplasm		A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.
http://purl.obolibrary.org/obo/MONDO_0858958	high-grade astrocytoma with piloid features	http://purl.obolibrary.org/obo/MONDO_0016684	anaplastic astrocytoma		An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.
http://purl.obolibrary.org/obo/MONDO_0858959	polymorphous low grade neuroepithelial tumor of the young	http://purl.obolibrary.org/obo/MONDO_0000628	central nervous system organ benign neoplasm		A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy.
http://purl.obolibrary.org/obo/MONDO_0858960	spindle cell oncocytoma	http://purl.obolibrary.org/obo/MONDO_0003257	posterior pituitary gland neoplasm		A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles.
http://purl.obolibrary.org/obo/MONDO_0858966	central nervous system tumor with bcor internal tandem duplication	http://purl.obolibrary.org/obo/MONDO_0000640	central nervous system primitive neuroectodermal neoplasm		A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.
http://purl.obolibrary.org/obo/MONDO_0858967	primary intracranial sarcoma, DICER1-mutant	http://purl.obolibrary.org/obo/MONDO_0002216	brain sarcoma		A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.
http://purl.obolibrary.org/obo/MONDO_0858974	breast implant illness	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. This syndrome may be related to breast implants
http://purl.obolibrary.org/obo/MONDO_0859588	keratosis pilaris atrophicans faciei	http://purl.obolibrary.org/obo/MONDO_0018855	keratosis pilaris atrophicans		A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.
http://purl.obolibrary.org/obo/MONDO_0859591	childhood low-grade glioma	http://purl.obolibrary.org/obo/MONDO_0021637	low grade glioma		A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.
http://purl.obolibrary.org/obo/MONDO_0859592	IDH-mutant and 1p/19q-codeleted oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0016696	anaplastic oligodendroglioma		An anaplastic oligodendroglioma that has material basis in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).
http://purl.obolibrary.org/obo/MONDO_0859597	cns neuroblastoma with FOXR2 activation	http://purl.obolibrary.org/obo/MONDO_0002900	cerebral neuroblastoma		A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.
http://purl.obolibrary.org/obo/MONDO_0859598	erythroleukemia	http://purl.obolibrary.org/obo/MONDO_0017858	acute erythroid leukemia		An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
http://purl.obolibrary.org/obo/MONDO_0859614	diffuse low-grade glioma, MAPK pathway–altered	http://purl.obolibrary.org/obo/MONDO_0021637	low grade glioma		A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.
http://purl.obolibrary.org/obo/MONDO_0859615	diffuse astrocytoma, MYB- or MYBL1-altered	http://purl.obolibrary.org/obo/MONDO_0016686	diffuse astrocytoma		A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.
http://purl.obolibrary.org/obo/MONDO_0859747	grade I lymphomatoid granulomatosis	http://purl.obolibrary.org/obo/MONDO_0019466	lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.
http://purl.obolibrary.org/obo/MONDO_0859748	grade II lymphomatoid granulomatosis	http://purl.obolibrary.org/obo/MONDO_0019466	lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.
http://purl.obolibrary.org/obo/MONDO_0859749	grade III lymphomatoid granulomatosis	http://purl.obolibrary.org/obo/MONDO_0019466	lymphomatoid granulomatosis		A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.
http://purl.obolibrary.org/obo/FOODON_02020889	cow material	http://purl.obolibrary.org/obo/FOODON_00005680	bovid material		Material that derives from some cow.
http://purl.obolibrary.org/obo/FOODON_02020890	cow substance	http://purl.obolibrary.org/obo/FOODON_02020889	cow material		Material which is produced by a cow.
http://purl.obolibrary.org/obo/FOODON_02020891	cow milk	http://purl.obolibrary.org/obo/FOODON_02020890	cow substance		Milk which is produced by cow lactation.
http://purl.obolibrary.org/obo/FOODON_02020892	cow	http://purl.obolibrary.org/obo/FOODON_02020889	cow material		A whole cow.
http://purl.obolibrary.org/obo/FOODON_02021055	goat material	http://purl.obolibrary.org/obo/FOODON_00005501	mammal material		Material that derives from some goat.
http://purl.obolibrary.org/obo/FOODON_02021056	goat substance	http://purl.obolibrary.org/obo/FOODON_02021055	goat material		Material which is produced by a goat.
http://purl.obolibrary.org/obo/FOODON_02021057	goat milk	http://purl.obolibrary.org/obo/FOODON_02021056	goat substance		Milk which is produced by goat lactation.
http://purl.obolibrary.org/obo/FOODON_02021445	crab material	http://purl.obolibrary.org/obo/FOODON_00005708	decapod material		Material that derives from some crab.
http://purl.obolibrary.org/obo/FOODON_02021446	crab	http://purl.obolibrary.org/obo/FOODON_02021445	crab material		A whole crab.
http://purl.obolibrary.org/obo/FOODON_02021462	shrimp material	http://purl.obolibrary.org/obo/FOODON_00005708	decapod material		Material that derives from some shrimp.
http://purl.obolibrary.org/obo/HP_6000531	Abnormal urinary organic compound level	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includes alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.
http://purl.obolibrary.org/obo/MONDO_1040002	PIK3CA-related overgrowth spectrum	http://purl.obolibrary.org/obo/MONDO_0019716	overgrowth syndrome		Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic
http://purl.obolibrary.org/obo/MONDO_1040004	PIK3R2-related overgrowth spectrum	http://purl.obolibrary.org/obo/MONDO_0019716	overgrowth syndrome		Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3R2 gene. The variants can be germline or somatic
http://purl.obolibrary.org/obo/MONDO_1040021	congenital myasthenic syndrome 4	http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome		Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene.
http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.
http://purl.obolibrary.org/obo/MONDO_0800502	childhood-onset self-limited focal epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0005384	focal epilepsy		A group of conditions characterized by age-dependent occurrence in otherwise normal children. Cognition and neurological evaluation are typically normal. Remission occurs in almost all patients by puberty. Presumed genetic factors have an important role. Seizure semiology and electroencephalographic (EEG) features are specific for each of the syndromes included in this group.
http://purl.obolibrary.org/obo/MONDO_0800495	variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration	http://purl.obolibrary.org/obo/MONDO_0100619	variable age epilepsy syndrome		An epilepsy syndrome characterized by seizures along with developmental and/or epileptic encephalopathy or progressive neurological deterioration where age at seizure onset varies.
http://purl.obolibrary.org/obo/MONDO_0800489	genetic epilepsy with febrile seizures plus spectrum	http://purl.obolibrary.org/obo/MONDO_0800488	neonatal/infantile-onset self-limited epilepsy syndrome		A neonatal/infantile-onset self-limited familial syndrome characterized by the presence of febrile seizures in an individual with a family history of seizures/epilepsy. Febrile seizures may be typical febrile seizures or 'febrile seizures plus' (FS+) may occur, where febrile seizures continue past 6 years of age and/or are accompanied by afebrile seizures which may be generalized or focal. FS+ and GEFS+ are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to both GEFS+ and FS+, with implications for specific genetic counselling, due to the variable severity of the epilepsy in different family members. Although febrile seizures are the hallmark of this familial syndrome, not all individuals in a family may have these.
http://purl.obolibrary.org/obo/MONDO_0800491	early-infantile DEE	http://purl.obolibrary.org/obo/MONDO_0800490	neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy		A neonatal/infantile epilepsy syndrome characterized by frequent drug-resistant seizures that begin ≤3 months of age, with abnormal interictal EEG and neurological examination. In up to 80% of patients, EIDEE is caused by an underlying structural, genetic, or metabolic reason.
http://purl.obolibrary.org/obo/MONDO_0800493	familial mesial temporal lobe epilepsy	http://purl.obolibrary.org/obo/MONDO_0800492	variable-age onset focal epilepsy syndrome		A focal epilepsy syndrome where the age at onset is typically in adolescence or adulthood. Affected individuals have focal aware seizures with mesial temporal lobe features, especially prominent déjà vu. Most patients have a normal MRI, and seizures respond to treatment. A subgroup is recognised that have antecedent febrile seizures, hippocampal atrophy, and drug resistant seizures. Direct questioning of relatives may be required to identify this familial epilepsy syndrome, as many individuals consider their déjà vu experiences as mild and they may not have been diagnosed as seizures.
http://purl.obolibrary.org/obo/MONDO_0800501	developmental and/or epileptic encephalopathy with spike-wave activation in sleep	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy).
http://purl.obolibrary.org/obo/MONDO_0800503	TMEM63B-related developmental and epileptic encephalopathy with anemia	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities.
http://purl.obolibrary.org/obo/MONDO_1012623	X-linked canine shaking pup, PLP1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012575	X-linked disease, non-human animal		Any X-linked tremor that occurs in dogs due to a mutation in the PLP1 gene.
http://purl.obolibrary.org/obo/MONDO_1012625	X-linked paralytic tremor, PLP1-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1011861	tremor, non-human animal		Any X-linked tremor that occurs in rabbits due to a mutation in the PLP1 gene.
http://purl.obolibrary.org/obo/MONDO_1012626	progressive degenerative myeloencephalopathy, PNPLA8-related, dog	http://purl.obolibrary.org/obo/MONDO_1011866	degenerative myeloencephalopathy, non-human animal		Any progressive degenerative myeloencephalopathy that occurs in dogs due to a mutation in the PNPLA8 gene.
http://purl.obolibrary.org/obo/MONDO_1012627	progressive degenerative myeloencephalopathy, PNPLA8-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011866	degenerative myeloencephalopathy, non-human animal		Any progressive degenerative myeloencephalopathy that occurs in cattle due to a mutation in the PNPLA8 gene.
http://purl.obolibrary.org/obo/MONDO_1012628	X-linked progressive retinal atrophy 1, RPGR-related, dog	http://purl.obolibrary.org/obo/MONDO_1012575	X-linked disease, non-human animal		X-linked form of progressive retinal atrophy that occurs in dogs due to a mutation in the RPGR gene and is characterized by normal photoreceptor morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc.
http://purl.obolibrary.org/obo/MONDO_1012630	rod-cone dysplasia 1, PDE6B-related, dog	http://purl.obolibrary.org/obo/MONDO_1012246	rod-cone dysplasia, dog		Any rod-cone dysplasia that occurs in dogs due to a mutation in the PDE6B gene.
http://purl.obolibrary.org/obo/MONDO_1012631	XX difference of sexual development, common carp	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual differentiation that occurs in common carp and is characterized by male sex reversal in gynogenetic females with XX karyotype.
http://purl.obolibrary.org/obo/MONDO_1012632	XX difference of sexual development, Japanese medaka	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual differentiation that occurs in Japanese medaka and is characterized by male sex reversal with female karyotype (XX).
http://purl.obolibrary.org/obo/MONDO_1012633	XX difference of sexual development, dog	http://purl.obolibrary.org/obo/MONDO_7770429	difference of sexual development, wolf		Any difference of sexual differentiation that occurs in dogs and is characterized by the presence of testicular tissue in the gonads and varying degrees of phenotypic masculinization with a female karyotype (XX) and absence of both the SRY gene and the Y chromosome.
http://purl.obolibrary.org/obo/MONDO_1012634	XX difference of sexual development, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual differentiation that occurs in domestic cats and is characterized by the presence of testicular tissue in the gonads with a female karyotype (XX) and absence of the SRY gene.
http://purl.obolibrary.org/obo/MONDO_1012635	XX difference of sexual development, horse	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual differentiation that occurs in horses and is characterized by testicular tissue in the gonads, varying levels of masculinization, a female karyotype (XX), and the absence of the SRY gene.
http://purl.obolibrary.org/obo/MONDO_1012636	XX difference of sexual development, pig	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual differentiation that occurs in pigs and is characterized by male sex reversal with female karyotype (XX) and absence of the SRY gene.
http://purl.obolibrary.org/obo/MONDO_1012637	XX difference of sexual development, llama	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual differentiation that occurs in llamas and is characterized by male sex reversal with female karyotype (XX) and absence of the SRY gene.
http://purl.obolibrary.org/obo/MONDO_1012638	XX difference of sexual development, goat	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual differentiation that occurs in goats and is characterized by the presence of testicular tissue in the gonads, abscence of horns (polled), with a female karyotype (XX) and absence of the SRY gene.
http://purl.obolibrary.org/obo/MONDO_1012640	von Willebrand disease I, dog	http://purl.obolibrary.org/obo/MONDO_1011612	Von Willebrand disease, dog		Any von Willebrand disease that occurs in dogs and is characterized by low plasma vWF concentrations and mild to moderate bleeding symptoms due to a mutation in the VWF gene.
http://purl.obolibrary.org/obo/MONDO_1012641	von Willebrand disease I, pig	http://purl.obolibrary.org/obo/MONDO_1011615	Von Willebrand disease, pig		Any von Willebrand disease that occurs in pigs and is characterized by low plasma vWF concentrations and mild to moderate bleeding symptoms.
http://purl.obolibrary.org/obo/MONDO_1012642	von Willebrand disease III, dog	http://purl.obolibrary.org/obo/MONDO_1011612	Von Willebrand disease, dog		Any von Willebrand disease that occurs in dogs and is characterized by no detectable or a severe quantitative deficiency of the glycoprotein von Willebrand factor (vWF) due to a mutation in the VWF gene.
http://purl.obolibrary.org/obo/MONDO_1012643	von Willebrand disease III, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011613	Von Willebrand disease, domestic cat		Any von Willebrand disease that occurs in cats and is characterized by no detectable or a severe quantitative deficiency of the glycoprotein von Willebrand factor (vWF).
http://purl.obolibrary.org/obo/MONDO_1012644	von Willebrand disease III, pig	http://purl.obolibrary.org/obo/MONDO_1011615	Von Willebrand disease, pig		Any von Willebrand disease that occurs in pigs and is characterized by no detectable or a severe quantitative deficiency of the glycoprotein von Willebrand factor (vWF) due to a mutation in the VWF gene.
http://purl.obolibrary.org/obo/MONDO_1012649	polysaccharide storage myopathy, type 1, horse	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any disorder of glycogen metabolism that occurs in horses due to a mutation in the GYS1 gene.
http://purl.obolibrary.org/obo/MONDO_1012651	autoimmune polyendocrinopathy, dog	http://purl.obolibrary.org/obo/MONDO_1012985	autoimmune disease, non-human animal		Any primary hypothyroidism and primary cortisol-deficient hypoadrenocorticism with increased serum concentrations of thyroglobulin autoantibodies and 21-hydroxylase autoantibodies that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012652	osteochondromatosis, EXT2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011972	osteochondromatosis, non-human animal		Any osteochondromatosis that occurs in dogs due to a mutation in the EXT2 gene.
http://purl.obolibrary.org/obo/MONDO_1012653	XY sex reversal, SRY-related, horse	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any disorder of sexual differentiation that occurs in horses due to a mutation in the SRY gene.
http://purl.obolibrary.org/obo/MONDO_1012654	XY sex reversal, SRY-related, Western roe deer	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any disorder of sexual differentiation that occurs in Western roe deer due to a mutation in the SRY gene.
http://purl.obolibrary.org/obo/MONDO_1012655	XY sex reversal, SRY-related, cattle	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any disorder of sexual differentiation that occurs in cattle due to a mutation in the SRY gene.
http://purl.obolibrary.org/obo/MONDO_1012656	XY sex reversal, SRY-related, rabbit	http://purl.obolibrary.org/obo/MONDO_7770368	difference of sexual development, rabbit		Any disorder of sexual differentiation that occurs in rabbits due to a mutation in the SRY gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012658	retinal degeneration, CEP290-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011245	retinal degeneration, domestic cat		Any retinal degeneration that occurs in cats due to a mutation in the CEP290 gene.
http://purl.obolibrary.org/obo/MONDO_1012659	retinal degeneration, GC1-related, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		Any retinal degeneration that occurs in chickens due to a mutation in the GC1 gene.
http://purl.obolibrary.org/obo/MONDO_1012661	rod-cone dysplasia 2, RD3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012246	rod-cone dysplasia, dog		Any rod-cone dysplasia that occurs in dogs due to a mutation in the RD3 gene.
http://purl.obolibrary.org/obo/MONDO_1012667	von Willebrand disease II, dog	http://purl.obolibrary.org/obo/MONDO_1011612	Von Willebrand disease, dog		Any von Willebrand disease that occurs in dogs and is characterized by qualitative abnormalities of the glycoprotein von Willebrand factor (vWF) and moderate to severe bleeding due to a mutation in the VWF gene.
http://purl.obolibrary.org/obo/MONDO_1012668	von Willebrand disease II, horse	http://purl.obolibrary.org/obo/MONDO_1011614	Von Willebrand disease, horse		Any von Willebrand disease that occurs in horses and is characterized by qualitative abnormalities of the glycoprotein von Willebrand factor (vWF) and moderate to severe bleeding.
http://purl.obolibrary.org/obo/MONDO_1012673	autosomal dominant progressive retinal atrophy, RHO-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Autosomal dominant form of progressive retinal atrophy that occurs in dogs due to a mutation in the RHO gene.
http://purl.obolibrary.org/obo/MONDO_1012677	Waardenburg syndrome, MITF-related, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011618	Waardenburg syndrome, golden hamster		Any Waardenburg syndrome that occurs in golden hamsters due to a mutation in the MITF gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012678	Waardenburg syndrome, MITF-related, pig	http://purl.obolibrary.org/obo/MONDO_1011447	Waardenburg syndrome, non-human animal		Any Waardenburg syndrome that occurs in pigs due to a mutation in the MITF gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012679	hereditary vitamin D-resistant rickets, VDR-related, dog	http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal		Any inherited rickets that occurs in dogs due to a mutation in the VDR gene.
http://purl.obolibrary.org/obo/MONDO_1012680	vitamin D-dependent rickets, VDR-related, cat	http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal		Any inherited rickets that occurs in domestic cats due to a mutation in the VDR gene.
http://purl.obolibrary.org/obo/MONDO_1012681	cone-rod dystrophy, RPGRIP1-related and MAP9-related, dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any cone-rod dystrophy that occurs in dogs due to mutations in the RPGRIP1 and MAP9 genes.
http://purl.obolibrary.org/obo/MONDO_1012682	multifocal retinopathy 1, BEST1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Any retinal disorder characterized by multiple areas of retinal degeneration that occurs in dogs due to a C(73)T stop mutation in the BEST1 gene.
http://purl.obolibrary.org/obo/MONDO_1012683	spondylo-epiphyseal dysplasia tarda, X-linked, dog	http://purl.obolibrary.org/obo/MONDO_1011194	osteochondrodysplasia, dog		Any X-linked chondrodysplasia characterized by spondylosis and arthrosis that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012696	multifocal symmetrical necrotizing encephalomyelopathy, Angus cattle	http://purl.obolibrary.org/obo/MONDO_1011850	necrotising myelopathy, non-human animal		A necrotizing encephalomyelopathy that occurs in calves of the Angus breed of cattle and is characterized by symmetrical degenerative lesions in the brain and spinal cord.
http://purl.obolibrary.org/obo/MONDO_1012697	demyelinating disorder, Limousin cattle	http://purl.obolibrary.org/obo/MONDO_1012987	demyelinating disease, non-human animal		Any demyelinating disease that occurs in calves of the Limousin breed of cattle and is characterized by progressively severe forelimb hypermetria, blindness, behavioural abnormalities and multifocal white matter vacuolation and demyelination.
http://purl.obolibrary.org/obo/MONDO_1012698	multifocal symmetrical necrotizing encephalomyelopathy, Simmental cattle	http://purl.obolibrary.org/obo/MONDO_1011850	necrotising myelopathy, non-human animal		Any necrotising myelopathy that occurs in calves of the Simmental breed of cattle and is characterized by progressive hindlimb ataxia and paralysis and bilateral symmetrical foci of necrosis throughout the grey matter of the brain.
http://purl.obolibrary.org/obo/MONDO_1012701	X-linked progressive retinal atrophy, type 3, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		X-linked form of progressive retinal atrophy that occurs in dogs.
http://purl.obolibrary.org/obo/MONDO_1012702	X-linked progressive retinal atrophy 2, RPGR-related, dog	http://purl.obolibrary.org/obo/MONDO_1012575	X-linked disease, non-human animal		X-linked form of progressive retinal atrophy that occurs in dogs due to a mutation in the RPGR gene and is characterized by severe manifestation during early retinal development.
http://purl.obolibrary.org/obo/MONDO_1012703	progressive retinal atrophy, CCDC66 related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the CCDC66 gene.
http://purl.obolibrary.org/obo/MONDO_1012704	oculoskeletal dysplasia, COL9A3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any retinal and skeletal dysplasia that occurs in dogs due to a mutation in the COL9A3 gene.
http://purl.obolibrary.org/obo/MONDO_1012705	oculoskeletal dysplasia, COL9A2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012971	dwarfism, non-human animal		Any retinal and skeletal dysplasia that occurs in dogs due to a mutation in the COL9A2 gene.
http://purl.obolibrary.org/obo/MONDO_1012707	neuronal ceroid lipofuscinosis, ATP13A2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog		Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the ATP13A2 gene.
http://purl.obolibrary.org/obo/MONDO_1012708	multifocal retinopathy 2, BEST1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Any retinal disorder characterized by multiple areas of retinal degeneration that occurs in dogs due to a G(482)A missense mutation in the BEST1 gene.
http://purl.obolibrary.org/obo/MONDO_1012709	multifocal retinopathy 3, BEST1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Any retinal disorder characterized by multiple areas of retinal degeneration that occurs in dogs due to a variant in exon 10 of the BEST1 gene.
http://purl.obolibrary.org/obo/MONDO_1012710	progressive retinal atrophy, SLC4A3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the SLC4A3 gene.
http://purl.obolibrary.org/obo/MONDO_1012714	XY difference of sexual development, dog	http://purl.obolibrary.org/obo/MONDO_7770429	difference of sexual development, wolf		Any difference of sexual development that occurs in dogs with a XY karyotype.
http://purl.obolibrary.org/obo/MONDO_1012715	XY difference of sexual development, domestic cat	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual development that occurs in domestic cats with a XY karyotype.
http://purl.obolibrary.org/obo/MONDO_1012716	XY difference of sexual development, horse	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual development that occurs in horses with a XY karyotype.
http://purl.obolibrary.org/obo/MONDO_1012717	early-onset retinal dystrophy, Bengal, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012243	retinal dystrophy, domestic cat		Any retinal dystrophy that occurs in the Bengal breed of domestic cats characterized as early-onset primary photoreceptor disorder that leads to blindness within the first year of age.
http://purl.obolibrary.org/obo/MONDO_1012722	rod-cone dysplasia 1a, PDE6B-related, dog	http://purl.obolibrary.org/obo/MONDO_1012630	rod-cone dysplasia 1, PDE6B-related, dog		Any rod-cone dysplasia that occurs in dogs due to an 8-bp insertion in exon 21 in the PDE6B gene.
http://purl.obolibrary.org/obo/MONDO_1012729	porcine stress syndrome, DMD-related, pig	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Any cardiomyopathy characterized by death under stressful conditions that occurs in pigs due to a mutation in the DMD gene.
http://purl.obolibrary.org/obo/MONDO_1012732	difference of sexual development, DMRT1-related, Japanese medaka	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any difference of sexual development that occurs in Japanese medaka due to a mutation in the DMRT1 gene.
http://purl.obolibrary.org/obo/MONDO_1012734	Waardenburg syndrome, EDNRB-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011447	Waardenburg syndrome, non-human animal		Any Waardenburg syndrome that occurs in sheep due to a mutation in the EDNRB gene.
http://purl.obolibrary.org/obo/MONDO_1012735	Y anomaly in low reproductive females, cattle	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any reproductive system disorder that occurs in female cattle and is characterized by decreased reproductive efficiency and the presence of Y chromosome segments.
http://purl.obolibrary.org/obo/MONDO_1012736	skeletal dysplasia, COL11A2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Any skeletal dysplasia that occurs in dogs due to a mutation in the COL11A2 gene.
http://purl.obolibrary.org/obo/MONDO_1012739	xanthinuria, type II, dog	http://purl.obolibrary.org/obo/MONDO_1011623	xanthinuria, dog		Any xanthinuria that occurs in dogs due to a mutation in the MOCOS gene.
http://purl.obolibrary.org/obo/MONDO_1012740	xanthinuria, MOCOS-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011450	xanthinuria, non-human animal		Any xanthinuria that occurs in cattle due to a mutation in the MOCOS gene.
http://purl.obolibrary.org/obo/MONDO_1012743	progressive retinal atrophy, SAG-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the SAG gene.
http://purl.obolibrary.org/obo/MONDO_1012748	polyneuropathy, ARHGEF10-related, dog	http://purl.obolibrary.org/obo/MONDO_1012354	polyneuropathy, dog		Any polyneuropathy that occurs in dogs due to a mutation in the ARHGEF10 gene.
http://purl.obolibrary.org/obo/MONDO_1012749	progressive retinal atrophy, FAM161A-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the FAM161A gene.
http://purl.obolibrary.org/obo/MONDO_1012753	progressive retinal atrophy, MERTK-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the MERTK gene.
http://purl.obolibrary.org/obo/MONDO_1012754	ptosis, intellectual disability, retarded growth and mortality syndrome, UBE3B-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Any syndromic disease that occurs in cattle due to a mutation in the UBE3B gene.
http://purl.obolibrary.org/obo/MONDO_1012761	muscular dystrophy, COL6A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog		Any muscular dystrophy that occurs in dogs due to a mutation in the COL6A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012762	polyneuropathy, RAB3GAP1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012354	polyneuropathy, dog		Any polyneuropathy that occurs in dogs due to a mutation in the RAB3GAP1 gene.
http://purl.obolibrary.org/obo/MONDO_1012763	neuroaxonal dystrophy, TECPR2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011561	neuroaxonal dystrophy, dog		Any neuroaxonal dystrophy that occurs in dogs due to a mutation in the TECPR2 gene.
http://purl.obolibrary.org/obo/MONDO_1012765	progressive retinal atrophy, CNGA1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the CNGA1 gene.
http://purl.obolibrary.org/obo/MONDO_1012782	progressive retinal atrophy, Whippet, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Progressive retinal atrophy that occurs in the Whippet breed of dog.
http://purl.obolibrary.org/obo/MONDO_1012787	neuroaxonal dystrophy, PLA2G6-related, dog	http://purl.obolibrary.org/obo/MONDO_1011561	neuroaxonal dystrophy, dog		Any neuroaxonal dystrophy that occurs in dogs due to a mutation in the PLA2G6 gene.
http://purl.obolibrary.org/obo/MONDO_1012788	neuroaxonal dystrophy, PLA2G6-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011565	neuroaxonal dystrophy, sheep		Any neuroaxonal dystrophy that occurs in sheep due to a mutation in the PLA2G6 gene.
http://purl.obolibrary.org/obo/MONDO_1012791	osteogenesis imperfecta, COL1A2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011581	osteogenesis imperfecta, dog		Any osteogenesis imperfecta that occurs in dogs due to a mutation in the COL1A2 gene.
http://purl.obolibrary.org/obo/MONDO_1012795	polyneuropathy, GJA9-related, dog	http://purl.obolibrary.org/obo/MONDO_1012354	polyneuropathy, dog		Any polyneuropathy that occurs in dogs due to a mutation in the GJA9 gene.
http://purl.obolibrary.org/obo/MONDO_1012796	polyneuropathy, NDRG1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012354	polyneuropathy, dog		Any polyneuropathy that occurs in dogs due to a mutation in the NDRG1 gene.
http://purl.obolibrary.org/obo/MONDO_1012797	osteogenesis imperfecta, type III, COL1A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011581	osteogenesis imperfecta, dog		Any osteogenesis imperfecta that occurs in dogs due to a mutation in the COL1A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012798	osteogenesis imperfecta, type II, COL1A1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011580	osteogenesis imperfecta, cattle		Any osteogenesis imperfecta that occurs in cattle due to a mutation in the COL1A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012799	skeletal dysplasia, FGF4-retrogene-related, dog	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Any skeletal dysplasia that occurs in dogs due to FGF4 retrogene insertions (FGF4L1 and/or FGF4L2).
http://purl.obolibrary.org/obo/MONDO_1012802	neuroaxonal dystrophy, VPS11-related, dog	http://purl.obolibrary.org/obo/MONDO_1011561	neuroaxonal dystrophy, dog		Any neuroaxonal dystrophy that occurs in dogs due to a mutation in the VPS11 gene.
http://purl.obolibrary.org/obo/MONDO_1012803	neuroaxonal dystrophy, MFN2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011561	neuroaxonal dystrophy, dog		Any neuroaxonal dystrophy that occurs in dogs due to a mutation in the MFN2 gene.
http://purl.obolibrary.org/obo/MONDO_1012806	progressive retinal atrophy, NECAP1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the NECAP1 gene.
http://purl.obolibrary.org/obo/MONDO_1012823	split spinal cord malformation type I, cattle	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Any congenital duplication of the spinal cords where there is a bony partition separating the cords and each is contained in their own meningeal sheath.
http://purl.obolibrary.org/obo/MONDO_1012824	split spinal cord malformation type II, cattle	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		Any congenital duplication of the spinal cords where the spinal cords are merged and covered by the same meninges.
http://purl.obolibrary.org/obo/MONDO_1012831	progressive retinal atrophy, Miniature Schnauzer, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in the Miniature Schnauzer breed of dog and is characterized by an average age of onset of seven years, mild clinical signs, and slow progression.
http://purl.obolibrary.org/obo/MONDO_1012832	palmoplantar hyperkeratosis, DSG1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012976	hyperkeratosis, non-human animal		Any hyperkeratosis that occurs in dogs due to a mutation in the DSG1 gene.
http://purl.obolibrary.org/obo/MONDO_1012833	progressive retinal atrophy, KIF3B-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012227	progressive retinal atrophy, domestic cat		Any progressive retinal atrophy that occurs in cats due to a mutation in the KIF3B gene.
http://purl.obolibrary.org/obo/MONDO_1012835	muscular dystrophy, COL6A3-related, dog	http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog		Any muscular dystrophy that occurs in dogs due to a mutation in the COL6A3 gene.
http://purl.obolibrary.org/obo/MONDO_1012838	progressive retinal atrophy, PDE6B-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the PDE6B gene.
http://purl.obolibrary.org/obo/MONDO_1012840	polyneuropathy, SBF2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012354	polyneuropathy, dog		Any polyneuropathy that occurs in dogs due to a mutation in the SBF2 gene.
http://purl.obolibrary.org/obo/MONDO_1012842	progressive retinal atrophy, IMPG2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the IMPG2 gene.
http://purl.obolibrary.org/obo/MONDO_1012844	XY sex reversal, NR5A1-related, dog	http://purl.obolibrary.org/obo/MONDO_7770429	difference of sexual development, wolf		Any XY sex reversal that occurs in dogs due to a mutation in the NR5A1 gene.
http://purl.obolibrary.org/obo/MONDO_1012845	neuropathy with splayed forelimbs, UCHL1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012972	hereditary neurological disease, non-human animal		Any hereditary neurological disease that occurs in cattle and that is characterized by an inability to stand, significant forelimb extensor rigidity and excessive forelimb lateral abduction at birth due to a mutation in the UCHL1 gene.
http://purl.obolibrary.org/obo/MONDO_1012861	progressive retinal atrophy, IFT122-related, dog	http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog		Any progressive retinal atrophy that occurs in dogs due to a mutation in the IFT122 gene.
http://purl.obolibrary.org/obo/MONDO_1012873	retinal dysplasia, NDP-related, dog	http://purl.obolibrary.org/obo/MONDO_1012241	retinal dysplasia, dog		Any retinal dysplasia that occurs in dogs due to a mutation in the NDP gene.
http://purl.obolibrary.org/obo/MONDO_1012875	Parkinson disease, PINK1-related, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Any Parkinson disease that occurs in crab-eating macaques due to a mutation in the PINK1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012876	Parkinson disease, PINK1-related, rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Any Parkinson disease that occurs in rhesus monkeys due to a mutation in the PINK1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012884	Parkinson disease, SNCA-related, rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Any Parkinson disease that occurs in rhesus monkeys due to a mutation in the SNCA gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012886	Parkinson disease, LRRK2-related, white-tufted-ear marmoset	http://purl.obolibrary.org/obo/MONDO_1012984	Parkinson disease, non-human animal		Any Parkinson disease that occurs in white-tufted-ear marmosets due to a mutation in the LRRK2 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012887	skeletal-cardio-enteric dysplasia, MAP2K2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Any syndromic congenital malformation characterized by reduced fetal growth, a short-spine, a long and narrow face, cardiac defects and heterotopy of the spiral colon that occurs in newborn cattle due to a mutation in the MAP2K2 gene.
http://purl.obolibrary.org/obo/MONDO_1012888	spinal muscular atrophy, LIX1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010996	spinal muscular atrophy, domestic cat		Any spinal muscular atrophy that occurs in domestic cats due to a mutation in the LIX1 gene.
http://purl.obolibrary.org/obo/MONDO_1012890	Rett syndrome, MECP2-related, crab-eating macaque	http://purl.obolibrary.org/obo/MONDO_1010005	autism spectrum disorder, non-human animal		Any autism spectrum disoder that occurs in crab-eating macaques due to a mutation in the MECP2 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012894	tuberous sclerosis, TSC1-related, pig	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		Any neoplastic disease characterized by multiple organ hamartomas that occurs in pigs due to a mutation in the TSC1 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012895	thrombocytopenia, TUBB1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010659	thrombocytopenia, dog		Any inherited macrothrombocytopenia that occurs in dogs due to a mutation in the TUBB1 gene.
http://purl.obolibrary.org/obo/MONDO_1012897	short QT syndrome, KCNH2-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1012982	heart disorder, non-human animal		Any heart disorder characterized by pathologically accelerated cardiac repolarization and increased ventricular tachycardia/fibrillation inducibility that occurs in rabbits due to a mutation in the KCNH2 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012898	osteopetrosis, SLC4A2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011181	osteopetrosis, cattle		Any osteopetrosis that occurs in cattle due to a mutation in the SLC4A2 gene.
http://purl.obolibrary.org/obo/MONDO_1012900	xanthinuria, XDH-related, dog	http://purl.obolibrary.org/obo/MONDO_1011623	xanthinuria, dog		Any xanthinuria that occurs in dogs due to a mutation in the XDH gene.
http://purl.obolibrary.org/obo/MONDO_1012903	Waardenburg syndrome, SOX10-related, pig	http://purl.obolibrary.org/obo/MONDO_1011447	Waardenburg syndrome, non-human animal		Any Waardenburg syndrome that occurs in pigs due to a mutation in the SOX10 gene created by genetic engineering or gene editing.
http://purl.obolibrary.org/obo/MONDO_1012911	neuromuscular channelopathy, KCNG1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012983	neuromuscular disease, non-human animal		Any neuromuscular disease characterized by a potassium channelopathy that occurs in cattle due to a mutation in the KCNG1 gene.
http://purl.obolibrary.org/obo/MONDO_1012912	complex skeletal dysplasia, LTBP3-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		Any skeletal dysplasia and deteriorating paraparesis due to complex skeletal malformations that occurs in domestic cats due to a mutation in the LTBP3 gene.
http://purl.obolibrary.org/obo/MONDO_1012919	XY sex reversal, sdY-related, Chinook salmon	http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal		Any XY sex reversal that occurs in Chinook salmon due to a mutation in the sdY gene.
http://purl.obolibrary.org/obo/MONDO_1012921	osteogenesis imperfecta, CREB3L1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011582	osteogenesis imperfecta, domestic cat		Any osteogenesis imperfecta that occurs in domestic cats due to a mutation in the CREB3L1 gene.
http://purl.obolibrary.org/obo/MONDO_1012930	familial acute respiratory distress syndrome, ANLN-related, dog	http://purl.obolibrary.org/obo/MONDO_1011923	respiratory distress syndrome, non-human animal		Any respiratory distress syndrome that occurs in dogs due to a mutation in the ANLN gene.
http://purl.obolibrary.org/obo/MONDO_1012935	osteochondromatosis, EXT1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011972	osteochondromatosis, non-human animal		Any osteochondromatosis that occurs in domestic cats due to a mutation in the EXT1 gene.
http://purl.obolibrary.org/obo/MONDO_1012936	persistent truncus arteriosus, GATA6-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010475	persistent truncus arteriosus, cattle		Any persistent truncus arteriosus that occurs in cattle due to a mutation in the GATA6 gene.
http://purl.obolibrary.org/obo/MONDO_1012939	perinatal mortality syndrome, GCK-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		Any syndromic disease characterized by perinatal mortality that occurs in cattle due to a mutation in the GCK gene.
http://purl.obolibrary.org/obo/MONDO_0100578	FANCM Fanconi-like genomic instability disorder	http://purl.obolibrary.org/obo/MONDO_0009217	Fanconi-like syndrome		FANCM Fanconi-like genomic instability disorder is autosomal recessive condition associated with an increased risk of cancer, infertility, and hypersensitivity to cytotoxic agents.
http://purl.obolibrary.org/obo/MONDO_0100579	GRHL3-related orofacial clefting	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		Any orofacial clefting in which the cause of the disease is a mutation in the GRHL3 gene.
http://purl.obolibrary.org/obo/MONDO_0100580	epilepsy, unknown whether focal or generalized	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		An epilepsy in which the type of seizure onset is unknown or unclear, making it uncertain whether it is a generalized or focal epilepsy. Seizures of unknown onset may still have features that can be classified.
http://purl.obolibrary.org/obo/MONDO_0100583	Jeune syndrome - GRK2-related	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene.
http://purl.obolibrary.org/obo/MONDO_0100584	SNUPN-related muscular dystrophy with or without multi-system involvement	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		A form of congenital muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene. The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present.
http://purl.obolibrary.org/obo/MONDO_0100587	A4GALT-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		Any congenital disorder of glycosylation in which the cause of the disease is a mutation in A4GALT.
http://purl.obolibrary.org/obo/MONDO_0100588	FAM20B-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		Any congenital disorder of glycosylation in which the cause of the disease is a mutation in FAM20B.
http://purl.obolibrary.org/obo/MONDO_0100589	ALG10-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		Any congenital disorder of glycosylation in which the cause of the disease is a mutation in ALG10.
http://purl.obolibrary.org/obo/MONDO_0100590	hemolytic uremic syndrome, atypical, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing immunoglobulin-mediated membranoproliferative glomerulonephritis.
http://purl.obolibrary.org/obo/CHEBI_138015	endocrine disruptor	http://purl.obolibrary.org/obo/CHEBI_51061	hormone receptor modulator		Any compound that can disrupt the functions of the endocrine (hormone) system
http://purl.obolibrary.org/obo/CHEBI_139589	retinoid anion	http://purl.obolibrary.org/obo/CHEBI_29067	carboxylic acid anion		A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group.
http://purl.obolibrary.org/obo/MONDO_0100076	juvenile idiopathic scoliosis	http://purl.obolibrary.org/obo/MONDO_0000726	idiopathic scoliosis		A scoliosis with no known cause arising in a juvenile.
http://purl.obolibrary.org/obo/FOODON_00003194	vegetarian food material	http://purl.obolibrary.org/obo/FOODON_00002147	food material by consumer group		A food product not including meat and animal tissue products (such as gelatin or animal-derived rennet).
http://purl.obolibrary.org/obo/MONDO_0020753	Orthocoronavirinae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005718	Coronaviridae infectious disease		Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.
http://purl.obolibrary.org/obo/HP_0034057	Fetal anomaly	http://purl.obolibrary.org/obo/HP_0001197	Abnormality of prenatal development or birth		Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.
http://purl.obolibrary.org/obo/HP_4000066	Abnormal iliac artery morphology	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		Any structural anomaly of the iliac artery.
http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Bacterial infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700095	Reoviridae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Reoviridae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700113	Anaplasmataceae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Anaplasmataceae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700114	vector-borne disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		Vector-borne disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700201	tick-borne infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700114	vector-borne disease, non-human animal		Tick-borne infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700202	Bunyaviridae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Bunyaviridae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700206	Parvoviridae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Parvoviridae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700208	Caliciviridae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Caliciviridae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700209	Strongylida infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0024969	parasitic disease, non-human animal		Strongylida infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700210	enterovirus infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Enterovirus infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700211	Erysipelothrix infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		Erysipelothrix infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700212	tuberculosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013104	mycobacterial infectious disease, non-human animal		Tuberculosis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700213	trypanosomiasis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0025114	protozoan infections, animal		Trypanosomiasis that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0700214	Herpesviridae infectious disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700053	viral infectious disease, non-human animal		Herpesviridae infectious disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_0100539	hemiplegic migraine-developmental and epileptic encephalopathy spectrum	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.
http://purl.obolibrary.org/obo/MONDO_0100541	GATA5-related congenital heart defects	http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease		A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.
http://purl.obolibrary.org/obo/MONDO_0100542	clonal hematopoiesis	http://purl.obolibrary.org/obo/MONDO_0060782	premalignant hematological system disease		A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage.
http://purl.obolibrary.org/obo/MONDO_0100543	clonal hematopoiesis of indeterminate potential	http://purl.obolibrary.org/obo/MONDO_0100542	clonal hematopoiesis		A precancerous condition characterized by the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential.
http://purl.obolibrary.org/obo/MONDO_0100544	age-related clonal hematopoiesis	http://purl.obolibrary.org/obo/MONDO_0100542	clonal hematopoiesis		A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.
http://purl.obolibrary.org/obo/MONDO_0100549	focal nodular hyperplasia	http://purl.obolibrary.org/obo/MONDO_0859689	hepatobiliary benign neoplasm		A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar.
http://purl.obolibrary.org/obo/MONDO_0100550	orbital myositis	http://purl.obolibrary.org/obo/MONDO_0004746	myopathy of extraocular muscle		A rare form of myositis that affects only the orbital muscles.
http://purl.obolibrary.org/obo/MONDO_0958094	adult-onset progressive leukoencephalopathy-early-onset deafness	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.
http://purl.obolibrary.org/obo/MONDO_0958106	congenital insensitivity to pain syndrome, Marsili type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat.
http://purl.obolibrary.org/obo/MONDO_0958119	embryonal tumor with multilayered rosettes	http://purl.obolibrary.org/obo/MONDO_0016713	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor		A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.
http://purl.obolibrary.org/obo/MONDO_0958199	myoclonic epilepsy of Lafora 1	http://purl.obolibrary.org/obo/MONDO_0009697	Lafora disease		Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.
http://purl.obolibrary.org/obo/HP_0025780	Abnormal volitional state	http://purl.obolibrary.org/obo/HP_0025766	Abnormal affect		An abnormality of internal states of motivation or drive that compromise, or interfere with, the ability of the person to attend to basic personal, social, or vocational activities.
http://purl.obolibrary.org/obo/HP_0025783	Diagnostic behavioral phenotype	http://purl.obolibrary.org/obo/HP_0000708	Atypical behavior		The Human Phenotype Ontology provides terms to describe specific phenotypic abnormalities rather than disease diagnoses. Nevertheless, it is common for descriptions such as 'Autism' to be used to describe individuals affected with Mendelian forms of neurodevelopmental disease and many other conditions. If possible, we recommend annotation using specific terms in other branchs of the Atypical behavior subontology, but if this is not possible, then terms from this branch may be used.
http://purl.obolibrary.org/obo/HP_6001025	Pathological inclusion body	http://purl.obolibrary.org/obo/HP_0025461	Abnormal cell morphology		Pathological inclusion bodies are are composed of glycogen, proteins, nucleic acids, lipids, hemosiderin, and calcium, that accumulate as metabolic by-products, catabolic products of macromolecular complexes, or in the context of cell injury.
http://purl.obolibrary.org/obo/MONDO_0800496	epilepsy with auditory features	http://purl.obolibrary.org/obo/MONDO_0800492	variable-age onset focal epilepsy syndrome		A variable-age onset focal epilepsy syndrome with characteristic focal aware sensory auditory seizures. Seizures often produce such mild symptoms that they are not diagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. EAF may occur as a familial syndrome, familial EAF (FEAF, previous known as autosomal dominant lateral temporal lobe epilepsy or autosomal dominant partial epilepsy with auditory features). Inheritance may be autosomal dominant (ADEAF), with incomplete penetrance.
http://purl.obolibrary.org/obo/MONDO_0800499	childhood-onset idiopathic generalized epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0005579	idiopathic generalized epilepsy		An idiopathic generalized epilepsy that has an onset during childhood.
http://purl.obolibrary.org/obo/ENVO_03000010	material transport process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		A process during which material is displaced from its original location and transported either to a new location or back to the original location.
http://purl.obolibrary.org/obo/ENVO_03000036	sedimentation in a water body	http://purl.obolibrary.org/obo/ENVO_03000009	material accumulation process		A material accumulation process during which solid particles are pulled through a water body by gravitation or centrifugal force and which ends when they settle on a solid surface.
http://purl.obolibrary.org/obo/ENVO_03000043	material transformation process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		A process during which a portion of some environmental material is converted into a different material or a collection of materials.
http://purl.obolibrary.org/obo/ENVO_03000055	desublimation of water vapour into ice	http://purl.obolibrary.org/obo/ENVO_01000726	desublimation process		A desublimation process during which water vapour is frozen into water ice.
http://purl.obolibrary.org/obo/ENVO_03000110	cryoform	http://purl.obolibrary.org/obo/ENVO_00000191	solid astronomical body part		A solid astronomical body part which is primarily composed of a continuous mass of snow and/or ice.
http://purl.obolibrary.org/obo/ENVO_03000111	snow mass	http://purl.obolibrary.org/obo/ENVO_01001691	mass of compounded environmental materials		A mass of snow.
http://purl.obolibrary.org/obo/ENVO_01000982	water flow process	http://purl.obolibrary.org/obo/ENVO_03000010	material transport process		A material transport process during which a volume of liquid water is transported due to a disequilibria in physical forces.
http://purl.obolibrary.org/obo/ENVO_09200014	temperature of water	http://purl.obolibrary.org/obo/ENVO_09200000	temperature of environmental material		The temperature of some water.
http://purl.obolibrary.org/obo/HP_0031094	Abnormal breast physiology	http://purl.obolibrary.org/obo/HP_0000769	Abnormality of the breast		Any anomaly of the function of the breast.
http://purl.obolibrary.org/obo/HP_0031192	Abnormal morphology of left ventricular trabeculae	http://purl.obolibrary.org/obo/HP_0030681	Abnormal morphology of myocardial trabeculae		Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).
http://purl.obolibrary.org/obo/ENVO_01001125	ice	http://purl.obolibrary.org/obo/ENVO_01000814	solid environmental material		An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure.
http://purl.obolibrary.org/obo/MONDO_0014100	dilated cardiomyopathy 1KK	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.
http://purl.obolibrary.org/obo/MONDO_0021066	urinary system neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003
http://purl.obolibrary.org/obo/MONDO_0021071	laryngeal neoplasm	http://purl.obolibrary.org/obo/MONDO_0020641	respiratory tract neoplasm		A benign or malignant neoplasm involving the larynx.
http://purl.obolibrary.org/obo/MONDO_0021088	papillary meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.
http://purl.obolibrary.org/obo/MONDO_0021091	papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0006349	papillary cystic neoplasm		A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.
http://purl.obolibrary.org/obo/MONDO_0021060	RASopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
http://purl.obolibrary.org/obo/MONDO_0021249	lip neoplasm	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		A neoplasm (disease) that involves the lip.
http://purl.obolibrary.org/obo/MONDO_0021250	tonsil neoplasm	http://purl.obolibrary.org/obo/MONDO_0020592	disorder of pharynx		A neoplasm (disease) that involves the tonsil.
http://purl.obolibrary.org/obo/MONDO_0021258	choroid neoplasm	http://purl.obolibrary.org/obo/MONDO_0021225	uvea neoplasm		A neoplasm (disease) that involves the optic choroid.
http://purl.obolibrary.org/obo/MONDO_0021260	sensory ganglionopathy	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		A disease or disorder that involves the sensory ganglion.
http://purl.obolibrary.org/obo/MONDO_0024470	benign chondrogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0024469	chondrogenic neoplasm		A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.
http://purl.obolibrary.org/obo/MONDO_0020704	inherited rippling muscle disease	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.
http://purl.obolibrary.org/obo/HP_0032309	Abnormal granulocyte count	http://purl.obolibrary.org/obo/HP_0011893	Abnormal leukocyte count		Abnormal increase or decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group.
http://purl.obolibrary.org/obo/MONDO_0100108	TPM3-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.
http://purl.obolibrary.org/obo/MONDO_0100121	SCN4A-related myopathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.
http://purl.obolibrary.org/obo/HP_0041078	Decreased immunoglobulin level in body fluid	http://purl.obolibrary.org/obo/HP_0041076	Abnormal immunoglobulin level in body fluid		An reduction from normal levels of immunoglobulins in body fluids, such as mucous.
http://purl.obolibrary.org/obo/HP_0033109	Abnormal circulating non-proteinogenic amino acid concentration	http://purl.obolibrary.org/obo/HP_0003112	Abnormal circulating amino acid concentration		Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.
http://purl.obolibrary.org/obo/HP_0033129	Abnormal shoulder physiology	http://purl.obolibrary.org/obo/HP_0034430	Abnormal joint physiology		Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.
http://purl.obolibrary.org/obo/HP_0033091	Tyrosinuria	http://purl.obolibrary.org/obo/HP_0033090	Increased aromatic amino acid level in urine		An abnormally increased level of tyrosine in the urine.
http://purl.obolibrary.org/obo/HP_0033152	Abnormal pharynx physiology	http://purl.obolibrary.org/obo/HP_0000600	Abnormality of the pharynx		A functional anomaly of the pharynx.
http://purl.obolibrary.org/obo/MONDO_0030840	mismatch repair cancer syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031219	mismatch repair cancer syndrome		An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by a high risk of many different types of childhood cancers, including hematological malignancies, brain tumors, intestinal polyposis, and colon cancer.
http://purl.obolibrary.org/obo/MONDO_0030841	mismatch repair cancer syndrome 3	http://purl.obolibrary.org/obo/MONDO_0031219	mismatch repair cancer syndrome		An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MSH6 mismatch repair gene is characterized by a high risk of childhood cancers, including hematological malignancies, brain tumors, and colorectal
http://purl.obolibrary.org/obo/MONDO_0030843	mismatch repair cancer syndrome 4	http://purl.obolibrary.org/obo/MONDO_0031219	mismatch repair cancer syndrome		An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis.
http://purl.obolibrary.org/obo/MONDO_0100230	fatty acyl-CoA reductase 1 upregulation	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.
http://purl.obolibrary.org/obo/MONDO_0100231	psoriatic arthritis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100232	psoriatic arthritis, susceptibility to		A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement.
http://purl.obolibrary.org/obo/MONDO_0100232	psoriatic arthritis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		An inherited susceptibility or predisposition to developing psoriatic arthritis.
http://purl.obolibrary.org/obo/MONDO_0100233	long COVID-19	http://purl.obolibrary.org/obo/MONDO_0100320	post-COVID-19 disorder		A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.
http://purl.obolibrary.org/obo/HP_0025668	Abnormal neck morphology	http://purl.obolibrary.org/obo/HP_0000464	Abnormality of the neck		Any structural anomaly of the neck region.
http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology	http://purl.obolibrary.org/obo/HP_0034057	Fetal anomaly		Any structural anomaly of the fetus.
http://purl.obolibrary.org/obo/HP_0034059	Abnormal fetal physiology	http://purl.obolibrary.org/obo/HP_0034057	Fetal anomaly		Any functional anomaly of the fetus.
http://purl.obolibrary.org/obo/FOODON_00004242	animal food product	http://purl.obolibrary.org/obo/FOODON_00001002	food product		A food product that is derived from some animal.
http://purl.obolibrary.org/obo/HP_0034548	Portal vein hypoplasia	http://purl.obolibrary.org/obo/HP_0031941	Abnormal portal venous system morphology		A developmental defect characterized by underdevelopment of the portal vein.
http://purl.obolibrary.org/obo/HP_0034644	Abnormal liver metabolite concentration	http://purl.obolibrary.org/obo/HP_0032243	Abnormal tissue metabolite concentration		The concentration of a metabolite in the liver is above or below the limits of normal.
http://purl.obolibrary.org/obo/HP_0034669	Abnormal knee morphology	http://purl.obolibrary.org/obo/HP_0002815	Abnormality of the knee		A structural abnormality of the knee joint or surrounding structures.
http://purl.obolibrary.org/obo/HP_0034670	Abnormal knee physiology	http://purl.obolibrary.org/obo/HP_0002815	Abnormality of the knee		A functional anomaly of the knee joint.
http://purl.obolibrary.org/obo/HP_0034673	Abnormal ankle morphology	http://purl.obolibrary.org/obo/HP_0003028	Abnormality of the ankle		A structural anomaly of the ankle.
http://purl.obolibrary.org/obo/HP_0034674	Abnormal ankle physiology	http://purl.obolibrary.org/obo/HP_0003028	Abnormality of the ankle		A functional anomaly of the ankle.
http://purl.obolibrary.org/obo/HP_0034684	Abnormal enzyme concentration or activity	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		Concentration or activity of an enzyme is above or below the limits of normal.
http://purl.obolibrary.org/obo/HP_5200024	Abnormal relationship	http://purl.obolibrary.org/obo/HP_0000708	Atypical behavior		The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.
http://purl.obolibrary.org/obo/HP_5200044	Reduced attention regulation	http://purl.obolibrary.org/obo/HP_0100543	Cognitive impairment		An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.
http://purl.obolibrary.org/obo/HP_5200046	Sensory behavioral abnormality	http://purl.obolibrary.org/obo/HP_0000708	Atypical behavior		Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.
http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0700226	food allergy	http://purl.obolibrary.org/obo/MONDO_0005271	allergic disease		Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.
http://purl.obolibrary.org/obo/MONDO_0700220	disease related to transplantation	http://purl.obolibrary.org/obo/MONDO_7770010	disease of primarily extrinsic mechanism		Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.
http://purl.obolibrary.org/obo/MONDO_0100217	developmental delay with short stature, dysmorphic facial features, and sparse hair 2	http://purl.obolibrary.org/obo/MONDO_0031632	developmental delay with short stature, dysmorphic facial features, and sparse hair		Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene.
http://purl.obolibrary.org/obo/MONDO_0100256	CTNNA1-related diffuse gastric and lobular breast cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0016419	hereditary breast carcinoma		Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern.
http://purl.obolibrary.org/obo/MONDO_0100287	POLE-related polyposis and colorectal cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0000147	polyposis		An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
http://purl.obolibrary.org/obo/MONDO_0100292	Carey-Fineman-Ziter syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031415	Carey-Fineman-Ziter syndrome		Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene.
http://purl.obolibrary.org/obo/MONDO_0100299	PAX5-related B lymphopenia and autism spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.
http://purl.obolibrary.org/obo/MONDO_0100301	hemangioma, capillary infantile, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An inherited susceptibility or predisposition to developing capillary infantile hemangioma.
http://purl.obolibrary.org/obo/MONDO_0100302	LADD syndrome 1	http://purl.obolibrary.org/obo/MONDO_0007872	LADD syndrome		Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.
http://purl.obolibrary.org/obo/MONDO_0100303	ichthyosis, annular epidermolytic 1	http://purl.obolibrary.org/obo/MONDO_0011870	annular epidermolytic ichthyosis		Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.
http://purl.obolibrary.org/obo/MONDO_0100518	hereditary attention deficit-hyperactivity disorder	http://purl.obolibrary.org/obo/MONDO_0007743	attention deficit-hyperactivity disorder		An instance of attention deficit-hyperactivity disorder that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0700221	disease related to solid organ transplantation	http://purl.obolibrary.org/obo/MONDO_0700220	disease related to transplantation		Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ transplant, or as a consequence of the transplantation.
http://purl.obolibrary.org/obo/MONDO_0850125	malignant adenoma	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.
http://purl.obolibrary.org/obo/MONDO_0850128	epididymis disease	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		A male reproductive system disease that is located in the epididymis.
http://purl.obolibrary.org/obo/MONDO_0850129	gastroesophageal cancer	http://purl.obolibrary.org/obo/MONDO_0002516	digestive system cancer		A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach.
http://purl.obolibrary.org/obo/MONDO_0850149	nephroma	http://purl.obolibrary.org/obo/MONDO_0002513	kidney benign neoplasm		A kidney benign neoplasm that is located in the kidney cortex.
http://purl.obolibrary.org/obo/MONDO_0850151	lymph node carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	carcinoma		A lymph node cancer that has material basis in abnormally proliferating cells derives from epithelial cells.
http://purl.obolibrary.org/obo/MONDO_0850152	auditory system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0002409	auditory system disorder		A sensory system benign neoplasm that is located in the auditory system.
http://purl.obolibrary.org/obo/MONDO_0850156	B-lymphoblastic leukemia/lymphoma MLL rearranged	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.
http://purl.obolibrary.org/obo/MONDO_0850157	B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.
http://purl.obolibrary.org/obo/MONDO_0850160	B-lymphoblastic leukemia/lymphoma with IL3-IGH	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).
http://purl.obolibrary.org/obo/MONDO_0850161	B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.
http://purl.obolibrary.org/obo/MONDO_0850162	B-lymphoblastic leukemia/lymphoma with IAMP21	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.
http://purl.obolibrary.org/obo/MONDO_0850199	NK cell deficiency	http://purl.obolibrary.org/obo/MONDO_0003778	inborn error of immunity		A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood.
http://purl.obolibrary.org/obo/MONDO_0850200	T cell and NK cell immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0003778	inborn error of immunity		A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.
http://purl.obolibrary.org/obo/MONDO_0850223	Libman-Sacks endocarditis	http://purl.obolibrary.org/obo/MONDO_0005025	endocarditis		An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.
http://purl.obolibrary.org/obo/MONDO_0850273	salivary gland mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	mucinous adenocarcinoma		A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.
http://purl.obolibrary.org/obo/MONDO_0850281	mammary analog secretory carcinoma	http://purl.obolibrary.org/obo/MONDO_0000521	salivary gland carcinoma		A salivary gland carcinoma that has material basis in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.
http://purl.obolibrary.org/obo/MONDO_0850292	subjective cognitive decline	http://purl.obolibrary.org/obo/MONDO_0002039	cognitive disorder		A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.
http://purl.obolibrary.org/obo/MONDO_0850295	acquired laryngomalacia	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.
http://purl.obolibrary.org/obo/MONDO_0850338	spinal ependymoma, MYCN-amplified	http://purl.obolibrary.org/obo/MONDO_0003473	spinal cord ependymoma		A spinal cord ependymoma that is characterized by MYCN amplification.
http://purl.obolibrary.org/obo/MONDO_0850345	lung pleomorphic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006279	lung sarcomatoid carcinoma		A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located in the lung.
http://purl.obolibrary.org/obo/MONDO_0850347	bladder sarcomatoid transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005611	bladder transitional cell carcinoma		A sarcomatoid transitional cell carcinoma that is located in the bladder.
http://purl.obolibrary.org/obo/MONDO_0850348	bladder small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004986	urinary bladder carcinoma		A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.
http://purl.obolibrary.org/obo/MONDO_0850371	nonobstructive coronary artery disease	http://purl.obolibrary.org/obo/MONDO_0005010	coronary artery disorder		A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.
http://purl.obolibrary.org/obo/MONDO_0850388	childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered	http://purl.obolibrary.org/obo/MONDO_0004378	pediatric cerebral ependymoblastoma		A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.
http://purl.obolibrary.org/obo/MONDO_0850426	high-grade B-cell lymphoma double-hit/triple-hit	http://purl.obolibrary.org/obo/MONDO_0004095	B-cell neoplasm		A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.
http://purl.obolibrary.org/obo/MONDO_0850445	benign peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0000650	peritoneal benign neoplasm		A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.
http://purl.obolibrary.org/obo/MONDO_0850459	primary cutaneous gamma-delta t-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0000607	primary cutaneous T-cell non-Hodgkin lymphoma		A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype.
http://purl.obolibrary.org/obo/MONDO_0850461	neurobehavioral disorder with prenatal alcohol exposure	http://purl.obolibrary.org/obo/MONDO_0000408	fetal alcohol spectrum disorder		A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.
http://purl.obolibrary.org/obo/MONDO_0850519	tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
http://purl.obolibrary.org/obo/MONDO_0850812	dendritic cell deficiency	http://purl.obolibrary.org/obo/MONDO_0003778	inborn error of immunity		A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.
http://purl.obolibrary.org/obo/MONDO_0851095	KINSSHIP syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.
http://purl.obolibrary.org/obo/MONDO_0851103	Bartholin's gland disease	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		A female reproductive system disease that is located in Bartholin's gland.
http://purl.obolibrary.org/obo/MONDO_0859083	systemic lupus erythematosus 17	http://purl.obolibrary.org/obo/MONDO_0007915	systemic lupus erythematosus		Any systemic lupus erythematosus in which the cause of the disease is a variation in the TLR7 gene.
http://purl.obolibrary.org/obo/MONDO_0859143	Radio-Tartaglia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
http://purl.obolibrary.org/obo/MONDO_0859152	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder caused by variation in the GEMIN5 gene, characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity.
http://purl.obolibrary.org/obo/MONDO_0859160	mitochondrial complex IV deficiency, nuclear type 22	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX16 gene.
http://purl.obolibrary.org/obo/MONDO_0859262	ACCES syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		A rare congenital disease caused by a mutation in the UBA2 gene, charcterized by scalp defects, digital and skeletal anomalies, early growth deficiency, and neurodevelopmental delay. Ectrodactyly presents in some cases.
http://purl.obolibrary.org/obo/MONDO_0859267	tumor predisposition syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma.
http://purl.obolibrary.org/obo/MONDO_0859295	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene. It is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.
http://purl.obolibrary.org/obo/MONDO_0859321	mitochondrial complex III deficiency, nuclear type 11	http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type		Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRH gene.
http://purl.obolibrary.org/obo/MONDO_0859520	mitochondrial complex IV deficiency, nuclear type 23	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX11 gene.
http://purl.obolibrary.org/obo/MAXO_0001397	therapeutic procedure of visual system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring visual system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001409	therapeutic procedure of digestive system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring digestive system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001410	therapeutic procedure of cardiovascular system	http://purl.obolibrary.org/obo/MAXO_0001411	therapeutic procedure of circulatory system		All manners of treatment to bring cardiovascular system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001411	therapeutic procedure of circulatory system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring circulatory system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001412	therapeutic procedure of excretory system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring excretory system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001413	therapeutic procedure of exocrine system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring exocrine system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001414	therapeutic procedure of genitourinary system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring genitourinary system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001415	therapeutic procedure of hematopoietic system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring hematopoietic system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001416	therapeutic procedure of integumental system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring integumental system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001417	therapeutic procedure of skin of body	http://purl.obolibrary.org/obo/MAXO_0001416	therapeutic procedure of integumental system		All manners of treatment to bring skin of body back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001418	therapeutic procedure of musculoskeletal system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring musculoskeletal system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001419	therapeutic procedure of nervous system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring nervous system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001420	therapeutic procedure of reproductive system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring reproductive system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001421	keratolytic agent therapy	http://purl.obolibrary.org/obo/MAXO_0001417	therapeutic procedure of skin of body		Treatment with a drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin.
http://purl.obolibrary.org/obo/MAXO_0001422	therapeutic procedure of vestibulo-auditory system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring vestibulo-auditory system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001423	therapeutic procedure of immune system	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring immune system back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance	http://purl.obolibrary.org/obo/MAXO_0000034	therapeutic procedure by site		All manners of treatment to bring organism substance back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001425	therapeutic procedure of amniotic fluid	http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance		All manners of treatment to bring amniotic fluid back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001426	therapeutic procedure of blood clot	http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance		All manners of treatment to bring blood clot back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001427	therapeutic procedure of excreta	http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance		All manners of treatment to bring excreta back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001428	therapeutic procedure of feces	http://purl.obolibrary.org/obo/MAXO_0001427	therapeutic procedure of excreta		All manners of treatment to bring feces back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001429	therapeutic procedure of urine	http://purl.obolibrary.org/obo/MAXO_0001427	therapeutic procedure of excreta		All manners of treatment to bring urine back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001430	therapeutic procedure of interstitial fluid	http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance		All manners of treatment to bring interstitial fluid back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001431	therapeutic procedure of ocular refractive media	http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance		All manners of treatment to bring ocular refractive media back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001432	therapeutic procedure of aqueous humor of eyeball	http://purl.obolibrary.org/obo/MAXO_0001431	therapeutic procedure of ocular refractive media		All manners of treatment to bring aqueous humor of eyeball back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001433	therapeutic procedure of vitreous humor	http://purl.obolibrary.org/obo/MAXO_0001431	therapeutic procedure of ocular refractive media		All manners of treatment to bring vitreous humor back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001435	therapeutic procedure of reproductive gland secretion	http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance		All manners of treatment to bring reproductive gland secretion back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001436	therapeutic procedure of female reproductive gland secretion	http://purl.obolibrary.org/obo/MAXO_0001435	therapeutic procedure of reproductive gland secretion		All manners of treatment to bring female reproductive gland secretion back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001437	therapeutic procedure of male reproductive gland secretion	http://purl.obolibrary.org/obo/MAXO_0001435	therapeutic procedure of reproductive gland secretion		All manners of treatment to bring male reproductive gland secretion back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001438	therapeutic procedure of respiratory system fluid/secretion	http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance		All manners of treatment to bring respiratory system fluid/secretion back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001440	therapeutic procedure of secretion of exocrine gland	http://purl.obolibrary.org/obo/MAXO_0001424	therapeutic procedure of organism substance		All manners of treatment to bring secretion of exocrine gland back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001441	therapeutic procedure of bile	http://purl.obolibrary.org/obo/MAXO_0001440	therapeutic procedure of secretion of exocrine gland		All manners of treatment to bring bile back to its normal state.
http://purl.obolibrary.org/obo/MAXO_0001442	therapeutic procedure of gastric juice	http://purl.obolibrary.org/obo/MAXO_0001440	therapeutic procedure of secretion of exocrine gland		All manners of treatment to bring gastric juice back to its normal state.
http://purl.obolibrary.org/obo/MONDO_0100530	myopathy caused by variation in CRPPA	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		Any myopathy in which the cause of the disease is a variation in the CRPPA gene.
http://purl.obolibrary.org/obo/MONDO_1030002	dysplasia of the proximal femoral epiphyses	http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy		A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1.
http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary	http://purl.obolibrary.org/obo/MONDO_0008315	prostate cancer		An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.
http://purl.obolibrary.org/obo/MONDO_1010845	GM1 gangliosidosis, GLB1-related, dog	http://purl.obolibrary.org/obo/MONDO_1010840	gangliosidosis, dog		A lysosomal storage disease in dogs due to a mutation in the GLB1 gene. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1010846	GM1 gangliosidosis, GLB1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010841	gangliosidosis, domestic cat		A lysosomal storage disease in cats due to a mutation in the GLB1 gene. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1010847	GM1 gangliosidosis, cattle	http://purl.obolibrary.org/obo/MONDO_1010843	gangliosidosis, cattle		A lysosomal storage disease in cattle. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1010848	GM1 gangliosidosis GLB1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1010167	gangliosidosis, non-human animal		A lysosomal storage disease in sheep due to a mutation in the GLB1 gene. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1010849	glycogen storage disease, GAA-related, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		A lysosomal storage disease in which there is a buildup of glycogen due to a lack of the enzyme alpha-glucosidase in Japanese quail.
http://purl.obolibrary.org/obo/MONDO_1010850	glycogen storage disease, GAA-related, dog	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in dogs due to a mutation in the GAA gene.
http://purl.obolibrary.org/obo/MONDO_1010851	glycogen storage disease, GAA-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in cats due to a mutation in the GAA gene.
http://purl.obolibrary.org/obo/MONDO_1010852	glycogen storage disease, GAA-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		Any glycogen storage disease that occurs in cattle due to a mutation in the GAA gene.
http://purl.obolibrary.org/obo/MONDO_1010853	glycogen storage disease II, sheep	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		A lysosomal storage disease in which there is a buildup of glycogen due to a lack of the enzyme alpha-glucosidase in sheep.
http://purl.obolibrary.org/obo/MONDO_1010868	mucopolysaccharidosis, GNS-related, goat	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any mucopolysaccharidosis that occurs in goats due to a mutation in the GNS gene.
http://purl.obolibrary.org/obo/MONDO_1010869	mucopolysaccharidosis, ARSB-related, dog	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any mucopolysaccharidosis that occurs in dogs due to a mutation in the ARSB gene.
http://purl.obolibrary.org/obo/MONDO_1010870	mucopolysaccharidosis, ARSB-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any mucopolysaccharidosis that occurs in cats due to a mutation in the ARSB gene.
http://purl.obolibrary.org/obo/MONDO_1010871	mucopolysaccharidosis, GUSB-related, dog	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any mucopolysaccharidosis that occurs in dogs due to a mutation in the GUSB gene.
http://purl.obolibrary.org/obo/MONDO_1010872	mucopolysaccharidosis, GUSB-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any mucopolysaccharidosis that occurs in cats due to a mutation in the GUSB gene.
http://purl.obolibrary.org/obo/MONDO_1010873	Niemann-Pick disease, type C, dog	http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog		A lysosomal storage disease characterised by impaired unesterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes that occurs in dogs. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death.
http://purl.obolibrary.org/obo/MONDO_1010874	Niemann-Pick disease, NPC1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat		A lysosomal storage disease characterised by impaired unesterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes that occurs in cats due to a mutation in the NPC1 gene. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death.
http://purl.obolibrary.org/obo/MONDO_1010875	Niemann-Pick disease, NPC1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010862	lysosomal storage disease, cattle		A lysosomal storage disease characterised by impaired unesterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes that occurs in cattle due to a mutation in the NPC1 gene. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death.
http://purl.obolibrary.org/obo/MONDO_1010876	mucopolysaccharidosis, SGSH-related, dog	http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal		Any mucopolysaccharidosis that occurs in dogs due to a mutation in the SGSH gene.
http://purl.obolibrary.org/obo/MONDO_1010878	GM2 gangliosidosis, GM2A-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010841	gangliosidosis, domestic cat		A lysosomal storage disease in cats due to a mutation in the GM2A gene. There is a buildup of G(M2) gangliosides in tissues. It is characterised by progressive neuromuscular dysfunction.
http://purl.obolibrary.org/obo/MONDO_1010879	neuronal ceroid lipofuscinosis, CLN6-related, dog	http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog		Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the CLN6 gene.
http://purl.obolibrary.org/obo/MONDO_1010880	neuronal ceroid lipofuscinosis, CLN6-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011571	neuronal ceroid lipofuscinosis, domestic cat		Any neuronal ceroid lipofuscinosis that occurs in cats due to a mutation in the CLN6 gene.
http://purl.obolibrary.org/obo/MONDO_1010881	neuronal ceroid lipofuscinosis, CLN6-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011578	neuronal ceroid lipofuscinosis, sheep		Any neuronal ceroid lipofuscinosis that occurs in sheep due to a mutation in the CLN6 gene.
http://purl.obolibrary.org/obo/MONDO_1010882	GM2 gangliosidosis, springbok	http://purl.obolibrary.org/obo/MONDO_1010167	gangliosidosis, non-human animal		A lysosomal storage disease in springboks. There is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase.
http://purl.obolibrary.org/obo/MONDO_1010883	GM2 gangliosidosis, HEXB-related dog	http://purl.obolibrary.org/obo/MONDO_1010840	gangliosidosis, dog		A lysosomal storage disease in dogs due to a mutation in the HEXB gene. There is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1010884	GM2 gangliosidosis, HEXB-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010841	gangliosidosis, domestic cat		A lysosomal storage disease in cats due to a mutation in the HEXB gene. There is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
http://purl.obolibrary.org/obo/MONDO_1010885	neuronal ceroid lipofuscinosis, TPP1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog		Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the TPP1 gene.
http://purl.obolibrary.org/obo/MONDO_1010886	neuronal ceroid lipofuscinosis, TPP1-related, pig	http://purl.obolibrary.org/obo/MONDO_1011577	neuronal ceroid lipofuscinosis, pig		Any neuronal ceroid lipofuscinosis that occurs in pigs due to a mutation in the TPP1 gene created using gene editing.
http://purl.obolibrary.org/obo/MONDO_1010887	neuronal ceroid lipofuscinosis, CLN5-related, dog	http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog		Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the CLN5 gene.
http://purl.obolibrary.org/obo/MONDO_1010888	neuronal ceroid lipofuscinosis, CLN5-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011568	neuronal ceroid lipofuscinosis, cattle		Any neuronal ceroid lipofuscinosis that occurs in cattle due to a mutation in the CLN5 gene.
http://purl.obolibrary.org/obo/MONDO_1010889	neuronal ceroid lipofuscinosis, CLN5-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011578	neuronal ceroid lipofuscinosis, sheep		Any neuronal ceroid lipofuscinosis that occurs in sheep due to a mutation in the CLN5 gene.
http://purl.obolibrary.org/obo/MONDO_1010890	neuronal ceroid lipofuscinosis, PPT1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog		Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the PPT1 gene.
http://purl.obolibrary.org/obo/MONDO_1010891	neuronal ceroid lipofuscinosis, PPT1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011578	neuronal ceroid lipofuscinosis, sheep		Any neuronal ceroid lipofuscinosis that occurs in sheep due to a mutation in the PPT1 gene created using CRISPR/Cas9 gene editing.
http://purl.obolibrary.org/obo/MONDO_1010892	neuronal ceroid lipofuscinosis, CTSD-related, dog	http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog		Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the CTSD gene.
http://purl.obolibrary.org/obo/MONDO_1010893	neuronal ceroid lipofuscinosis, CTSD-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011578	neuronal ceroid lipofuscinosis, sheep		Any neuronal ceroid lipofuscinosis that occurs in sheep due to a mutation in the CTSD gene.
http://purl.obolibrary.org/obo/MONDO_1010894	neuronal ceroid lipofuscinosis, CLN8, dog	http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog		Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the CLN8 gene.
http://purl.obolibrary.org/obo/MONDO_1010896	sphingomyelin lipidosis, raccoon	http://purl.obolibrary.org/obo/MONDO_1010171	lysosomal storage disease, non-human animal		Any lysosomal storage disease consistent with sphingomyelin lipidosis that occurs in raccoons.
http://purl.obolibrary.org/obo/MONDO_1010897	Niemann-Pick disease, SMPD1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat		Any lysosomal disease characterized by the accumulation of sphingomyelin and cholesterol in lysosomes that occurs in cats due to a mutation in the SMPD1 gene.
http://purl.obolibrary.org/obo/MONDO_1010898	sphingomyelinase deficiency, cattle	http://purl.obolibrary.org/obo/MONDO_1010862	lysosomal storage disease, cattle		Neurological disease characterized by ataxia, hypermetria, wide-base stance, and strabismus that occurs in cattle due to a sphingomyelinase deficiency resulting in the accumulation of sphingomyelin in neurons and macrophages.
http://purl.obolibrary.org/obo/MONDO_1010899	neuronal ceroid lipofuscinosis, Japanese macaque	http://purl.obolibrary.org/obo/MONDO_1011430	neuronal ceroid lipofuscinosis, non-human animal		Neuronal ceroid lipofuscinosis that occurs in Japanese macaques. Affected macaques display progressive neurological deficits including visual impairment, tremor, incoordination, ataxia and impaired balance.
http://purl.obolibrary.org/obo/MONDO_1010900	neuronal ceroid lipofuscinosis, MFSD8-related, dog	http://purl.obolibrary.org/obo/MONDO_1011570	neuronal ceroid lipofuscinosis, dog		Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the MFSD8 gene.
http://purl.obolibrary.org/obo/MONDO_1010901	neuronal ceroid lipofuscinosis, MFSD8-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011571	neuronal ceroid lipofuscinosis, domestic cat		Any neuronal ceroid lipofuscinosis that occurs in cats due to a mutation in the MFSD8 gene.
http://purl.obolibrary.org/obo/MONDO_1010902	Niemann-Pick disease, NPC2-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1010861	lysosomal storage disease, domestic cat		A lysosomal storage disorders characterized by characterized by the accumulation of unesterified cholesterol and glycolipids in cellular lysosomes and late endosomes that occurs in cats due to a mutation in the NPC2 gene.
http://purl.obolibrary.org/obo/MONDO_1010903	neuronal ceroid lipofuscinosis, CLN3-related, pig	http://purl.obolibrary.org/obo/MONDO_1011577	neuronal ceroid lipofuscinosis, pig		Any neuronal ceroid lipofuscinosis that occurs in pigs due to a mutation in the CLN3 gene created using gene editing.
http://purl.obolibrary.org/obo/MONDO_1010904	Gaucher disease, GBA1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011509	Gaucher disease, sheep		Gaucher disease that occurs in sheep due to a mutation in the GBA1 gene. Neonatal lambs display severe neurological disease with shaking and inability to stand. Their skin at birth is abnormal and thickened.
http://purl.obolibrary.org/obo/MONDO_1010926	congenital muscular dystonia, ATP2A1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1010196	congenital myopathy, non-human animal		Hereditary muscle myotonia in cattle due to a mutation in the ATP2A1 gene. This disease results in an inability to flex limbs and injurious falling. Animals also experience fatigue upon stimulation. The disorder in muscle function is due to a defect in the Ca2 pump.
http://purl.obolibrary.org/obo/MONDO_1010934	limb-girdle muscular dystrophy, SGCD-related, dog	http://purl.obolibrary.org/obo/MONDO_1010911	muscular dystrophy, dog		Any muscular dystrophy that occurs in dogs due to a mutation in the SGCD gene.
http://purl.obolibrary.org/obo/MONDO_1010959	neurofibromatosis, NF1-related, pig	http://purl.obolibrary.org/obo/MONDO_1011437	neurofibromatosis, non-human animal		Any neurofibromatosis that occurs in pigs due to a mutation in the NF1 gene.
http://purl.obolibrary.org/obo/MONDO_1011037	oculocutaneous albinism, SLC45A2-related, Japanese medaka	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Any oculocutaneous albinism that occurs in Japanese medaka due to a mutation in the SLC45A2 gene.
http://purl.obolibrary.org/obo/MONDO_1011038	oculocutaneous albinism, SLC45A2-related, western gorilla	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Any oculocutaneous albinism that occurs in western gorillas due to a mutation in the SLC45A2 gene.
http://purl.obolibrary.org/obo/MONDO_1011039	oculocutaneous albinism, SLC45A2-related, dog	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Any oculocutaneous albinism that occurs in dogs due to a mutation in the SLC45A2 gene.
http://purl.obolibrary.org/obo/MONDO_1011040	oculocutaneous albinism, SLC45A2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012579	oculocutaneous albinism, non-human animal		Any oculocutaneous albinism that occurs in cattle due to a mutation in the SLC45A2 gene.
http://purl.obolibrary.org/obo/MONDO_1011062	primary hyperoxaluria, GRHPR-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011907	nephropathy, non-human animal		Any acute-onset renal failure from deposition of oxalate crystals in renal tubules that occurs in cats due to a mutation in the GRHPR gene.
http://purl.obolibrary.org/obo/MONDO_1011100	primary hyperoxaluria, AGXT-related, dog	http://purl.obolibrary.org/obo/MONDO_1012186	nephropathy, dog		Any nephropathy characterized by renal tubular necrosis with extensive oxalate crystal deposition that occurs in dogs due to a mutation in the AGXT gene.
http://purl.obolibrary.org/obo/MONDO_1011101	primary hyperoxaluria, AGXT-related, sheep	http://purl.obolibrary.org/obo/MONDO_1012188	nephropathy, sheep		Any nephropathy characterized by extensive oxalate crystal deposition that occurs in sheep due to a mutation in the AGXT gene.
http://purl.obolibrary.org/obo/MONDO_1011105	polycystic kidney disease, PKD2-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011054	polycystic kidney disease, PKD1-related, domestic cat		Any polycystic kidney disease that occurs in cats due to a mutation in the PKD2 gene.
http://purl.obolibrary.org/obo/MONDO_1011106	polycystic kidney disease, PKD2-related, pig	http://purl.obolibrary.org/obo/MONDO_1011057	polycystic kidney disease, PKD1-related, pig		Any polycystic kidney disease that occurs in pigs due to a mutation in the PKD2 gene created using gene editing.
http://purl.obolibrary.org/obo/MONDO_1011183	vitamin D dependent rickets, CYP27B1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal		Any vitamin D dependent rickets that occurs in dogs due to a mutation in the CYP27B1 gene.
http://purl.obolibrary.org/obo/MONDO_1011184	vitamin D dependent rickets type 1A, CYP27B1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal		Any vitamin D dependent rickets that occurs in cats due to a mutation in the CYP27B1 gene.
http://purl.obolibrary.org/obo/MONDO_1011185	pseudo vitamin D-deficiency rickets, CYP27B1-related, pig	http://purl.obolibrary.org/obo/MONDO_1011595	rickets, pig		Any vitamin D dependent rickets that occurs in pigs due to a mutation in the CYP27B1 gene.
http://purl.obolibrary.org/obo/MONDO_1011197	inherited rickets, DMP1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal		Any inherited rickets in sheep due to a mutation in the DMP1 gene.
http://purl.obolibrary.org/obo/MONDO_1011198	hypophosphatemic rickets, DMP1-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1011456	rickets, non-human animal		Hypophosphatemic rickets in rabbits due to ablation of the DMP1 gene created using CRISPR/Cas9.
http://purl.obolibrary.org/obo/MONDO_1011254	rod-cone dysplasia, PDE6A-related, dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any progressive rod-cone degeneration that occurs in dogs due to a mutation in the PDE6A gene.
http://purl.obolibrary.org/obo/MONDO_1011256	achromatopsia, CNGB3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012578	achromatopsia, non-human animal		Any achromatopsia that occurs in dogs due to a mutation in the CNGB3 gene.
http://purl.obolibrary.org/obo/MONDO_1011257	achromatopsia, CNGB3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1012578	achromatopsia, non-human animal		Any achromatopsia that occurs in cattle due to a mutation in the CNGB3 gene.
http://purl.obolibrary.org/obo/MONDO_1011260	achromatopsia, CNGA3-related, dog	http://purl.obolibrary.org/obo/MONDO_1012578	achromatopsia, non-human animal		Any achromatopsia that occurs in dogs due to a mutation in the CNGA3 gene.
http://purl.obolibrary.org/obo/MONDO_1011261	achromatopsia, CNGA3-related, sheep	http://purl.obolibrary.org/obo/MONDO_1012578	achromatopsia, non-human animal		Any achromatopsia that occurs in sheep due to a mutation in the CNGA3 gene.
http://purl.obolibrary.org/obo/MONDO_1011264	cone-rod dystrophy, ADAM9-related, dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any cone-rod dystrophy that occurs in dogs due to a mutation in ADAM9 gene.
http://purl.obolibrary.org/obo/MONDO_1011265	rod-cone dysplasia, PCARE-related, dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any progressive rod-cone degeneration that occurs in dogs due to a mutation in the PCARE gene.
http://purl.obolibrary.org/obo/MONDO_1011266	cone-rod dystrophy, PDE6B-related dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any cone-rod dystrophy that occurs in dogs due to a mutation in the PDE6B gene.
http://purl.obolibrary.org/obo/MONDO_1011267	cone-rod dystrophy, IQCB1-related, black-footed cat	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any cone-rod dystrophy that occurs in black-footed cats due to a mutation in the IQCB1 gene.
http://purl.obolibrary.org/obo/MONDO_1011268	cone-rod dystrophy, IQCB1-related, dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any cone-rod dystrophy that occurs in dogs due to a mutation in the IQCB1 gene.
http://purl.obolibrary.org/obo/MONDO_1011272	cone-rod dystrophy, GUCY2D-related, pig	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		A disease created by lentiviral transgenesis to create pigs with a deleterious mutation in the GUCY2D gene known to cause cone-rod dystrophy 6 in humans.
http://purl.obolibrary.org/obo/MONDO_1011275	glaucoma, LTBP2-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011511	glaucoma, domestic cat		Any glaucoma that occurs in cats due to a mutation in the LTBP2 gene.
http://purl.obolibrary.org/obo/MONDO_1011276	retinitis pigmentosa, RP1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011259	retinitis pigmentosa, cattle		Any retinitis pigmentosa that occurs in cattle due to a mutation in RP1 gene.
http://purl.obolibrary.org/obo/MONDO_1011277	progressive retinal atrophy, BBS4-related, dog	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		Any progressive retinal atrophy in dogs due to a mutation in the BBS4 gene.
http://purl.obolibrary.org/obo/MONDO_1011281	achromatopsia, PDE6C-related, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1012578	achromatopsia, non-human animal		Any achromatopsia that occurs in Rhesus monkey due to a mutation in the PDE6C gene.
http://purl.obolibrary.org/obo/MONDO_1011282	Stargardt disease, ABCA4-related, dog	http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal		Any progressive rod-cone degeneration that occurs in dogs due to a mutation in the ABCA4 gene.
http://purl.obolibrary.org/obo/MONDO_1011283	syndromic retinal atrophy, BBS7-related, Rhesus monkey	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		Any syndromic retinal atrophy in Rhesus monkeys due to a mutation in the BBS7 gene.
http://purl.obolibrary.org/obo/MONDO_1011285	syndromic retinal atrophy, BBS2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		Any syndromic retinal atrophy in dogs due to a mutation in the BBS2 gene.
http://purl.obolibrary.org/obo/MONDO_1012578	achromatopsia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		Achromatopsia that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012581	mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012979	inborn errors of metabolism, non-human animal		Mucopolysaccharidosis or mucopolysaccharidosis-like disorder that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012582	cone-rod dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010326	retinal degeneration, non-human animal		Inherited cone-rod dystrophy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1030007	hypertensive urgency	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		A hypertensive disorder that is characterized by marked elevation in blood pressure, such as systolic blood pressure greater than 180 mmHg or diastolic blood pressure greater than 110 mmHg, and without evidence of target organ damage, such as pulmonary edema, cardiac ischemia, neurologic deficits, or acute renal failure.
http://purl.obolibrary.org/obo/MONDO_1030009	persistent atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0004981	atrial fibrillation		An atrial fibrillation disorder characterized by continuous atrial fibrillation that lasts for more than seven days.
http://purl.obolibrary.org/obo/MONDO_1030010	precerebral artery stenosis	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		A cerebrovascular disorder characterized by an abnormal narrowing of a precerebral artery.
http://purl.obolibrary.org/obo/MONDO_1030011	paroxysmal atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0004981	atrial fibrillation		An atrial fibrillation disorder characterized by intermittent atrial fibrillation that lasts less than seven days from onset.
http://purl.obolibrary.org/obo/MONDO_0100574	generalized epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		Epilepsy that is characterized by generalized seizure types and may have typical interictal and/or ictal EEG findings that accompany generalized seizure types (for example generalized spike-wave).
http://purl.obolibrary.org/obo/MONDO_0100575	genetic generalized epilepsy	http://purl.obolibrary.org/obo/MONDO_0100574	generalized epilepsy		A generalized epilepsy that is understood to have a genetic etiology. This does not always mean that the epilepsy is inherited or can be transmitted to offspring, as the genetic etiology may be a de novo pathogenic variant, or the genetic etiology may have complex/polygenic inheritance.
http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013242	central nervous system disorder, non-human animal		Neurodegenerative disease that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012962	cataract, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		Cataract that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1012963	centronuclear myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1010196	congenital myopathy, non-human animal		Centronuclear myopathy that occurs in non-human animals.
http://purl.obolibrary.org/obo/MONDO_1060190	APP-related brain and vascular amyloidosis	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		A hereditary amyloidosis characterized by a spectrum of neurodegenerative and neurovascular phenotypes caused by pathogenic variant in the APP gene, resulting in an abnormal clearance of amyloid peptides, either by overproduction and decreased clearance of amyloid peptides, with deposition of amyloid in plaques and blood vessel walls. Affected individuals may present with progressive cognitive decline, cerebral vascular amyloidosis with white matter changes, and stroke with or without hemorrhage.
http://purl.obolibrary.org/obo/MONDO_1060191	ciliopathy-IFT74	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		Any ciliopathy caused by variants in the IFT74 gene.
http://purl.obolibrary.org/obo/MONDO_1010184	macular telangiectasia	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		An eye disorder characterized by retinal capillary network incompetence, dilatations, and thinning which can be uniocular or binocular and causes gradual deterioration of central vision.
http://purl.obolibrary.org/obo/MONDO_1010182	premenstrual dysphoric disorder	http://purl.obolibrary.org/obo/MONDO_0004169	premenstrual tension		A severe form of premenstrual syndrome (PMS) that involves significant emotional and physical symptoms in the week or two before a period.
http://purl.obolibrary.org/obo/MONDO_1010183	macular telangiectasia type 2	http://purl.obolibrary.org/obo/MONDO_1010184	macular telangiectasia		A macular telangiectasia that causes slow deterioration of central vision, typically appearing in people between the ages of 50 and 60. It is characterized by the dilation and leakage of blood vessels in the macula, the part of the retina responsible for sharp, detailed vision, and is also linked to neurodegeneration in retinal cells.
http://purl.obolibrary.org/obo/MONDO_1010185	transplant rejection	http://purl.obolibrary.org/obo/MONDO_0700220	disease related to transplantation		A disease related to transplantation that occurs when transplant tissue is rejected by the recipient's immune system, which destroys the transplanted tissue.
http://purl.obolibrary.org/obo/MONDO_1010186	hyperacute transplant rejection	http://purl.obolibrary.org/obo/MONDO_1010185	transplant rejection		A transplant rejection that appears in the first minutes following transplantation and occurs only in vascularized grafts. This very fast rejection is characterized by vessels thrombosis leading to graft necrosis. Hyperacute rejection is caused by the presence of antidonor antibodies existing in the recipient before transplantation. These antibodies induce both complement activation and stimulation of endothelial cells to secrete Von Willebrand procoagulant factor, resulting in platelet adhesion and aggregation. The result of these series of reactions is the generation of intravascular thrombosis leading to lesion formation and ultimately to graft loss.
http://purl.obolibrary.org/obo/MONDO_1010187	acute transplant rejection	http://purl.obolibrary.org/obo/MONDO_1010185	transplant rejection		A transplant rejection that is caused by an immune response directed against the graft and occurs between 1 week and several months after transplantation. Acute rejection is diagnosed on histological analysis of a graft biopsy. Acute rejection is thought to result from two immunological mechanisms that may act alone or in combination: (1) a T-cell-dependent process that corresponds to acute cellular rejection, and (2) a B-cell-dependent process that generates the acute humoral rejection.
http://purl.obolibrary.org/obo/MONDO_1010188	chronic transplant rejection	http://purl.obolibrary.org/obo/MONDO_1010185	transplant rejection		An insidious form of transplant rejection that leads to graft destruction over months to years after tissue transplantation. Chronic rejection can be mediated by either humoral or cellular mechanisms linked to memory/plasma cells and antibodies. The presence of tertiary lymphoid organs in the graft is a characteristic of this form of rejection.
http://purl.obolibrary.org/obo/MONDO_1060194	FAS-related autoimmune lymphoproliferative immune disorder	http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome		An autoimmune lymphoproliferative syndrome that results from defective lymphocyte homoestasis, and is caused by variants in the FAS gene. It is characterized by non-malignant lymphoproliferation, autoimmune disease, and lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_1060195	SH2B3-related immune system disorder	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		A predisposition caused by a mutation in SH2B3 gene that presents with myeloproliferation and/or multi-organ autoimmunity.
http://purl.obolibrary.org/obo/CL_0020029	cuboidal epithelial cell	http://purl.obolibrary.org/obo/CL_0000075	columnar/cuboidal epithelial cell		An epithelial cell that has a cuboidal morphology.
http://purl.obolibrary.org/obo/IAO_8000000	ontology module	http://purl.obolibrary.org/obo/IAO_0000102	data about an ontology part	ontology file	
http://purl.obolibrary.org/obo/ENVO_00000097	desert area	http://purl.obolibrary.org/obo/ENVO_01000752	area of barren land		
http://purl.obolibrary.org/obo/HP_0100639	Erectile dysfunction	http://purl.obolibrary.org/obo/HP_0040307	Male sexual dysfunction		
http://purl.obolibrary.org/obo/HP_0032466	Aplasia of the olfactory bulb	http://purl.obolibrary.org/obo/HP_0040327	Abnormal morphology of the olfactory bulb		
http://purl.obolibrary.org/obo/UBERON_0001087	pleural fluid	http://purl.obolibrary.org/obo/UBERON_0036244	secretion of serous membrane		
http://purl.obolibrary.org/obo/UBERON_6003007	insect adult head	http://purl.obolibrary.org/obo/UBERON_6003005	insect adult tagma		
http://purl.obolibrary.org/obo/MONDO_0015874	benign ductal tumor of breast	http://purl.obolibrary.org/obo/MONDO_0021100	breast neoplasm		
http://purl.obolibrary.org/obo/MONDO_0024891	non-infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0021108	meningitis		
http://purl.obolibrary.org/obo/MONDO_0023538	Kaplowitz-Bodurtha syndrome	http://purl.obolibrary.org/obo/MONDO_0005152	hypopituitarism		
http://purl.obolibrary.org/obo/MONDO_0043135	microcephaly microphthalmos blindness	http://purl.obolibrary.org/obo/MONDO_0001941	blindness (disorder)		
http://purl.obolibrary.org/obo/MONDO_0018624	spontaneous intracranial hypotension	http://purl.obolibrary.org/obo/MONDO_0021146	headache disorder		
http://purl.obolibrary.org/obo/MONDO_0023093	exertional headache	http://purl.obolibrary.org/obo/MONDO_0021146	headache disorder		
http://purl.obolibrary.org/obo/MONDO_0971128	multiple evanescent white dot syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0020830	diaphragmitis	http://purl.obolibrary.org/obo/MONDO_0005728	diaphragm disorder		
http://purl.obolibrary.org/obo/MONDO_0016126	viral myositis	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		
http://purl.obolibrary.org/obo/MONDO_0016127	bacterial myositis	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		
http://purl.obolibrary.org/obo/MONDO_0016130	fungal myositis	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		
http://purl.obolibrary.org/obo/MONDO_0007595	factor VII and Factor VIII, combined deficiency of	http://purl.obolibrary.org/obo/MONDO_0021181	inherited blood coagulation disorder		
http://purl.obolibrary.org/obo/MONDO_0010097	Tatsumi factor deficiency	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		
http://purl.obolibrary.org/obo/MONDO_0013187	factor XIII, A subunit, deficiency of	http://purl.obolibrary.org/obo/MONDO_0018029	congenital factor XIII deficiency		
http://purl.obolibrary.org/obo/MONDO_0013190	factor XIII, b subunit, deficiency of	http://purl.obolibrary.org/obo/MONDO_0018029	congenital factor XIII deficiency		
http://purl.obolibrary.org/obo/MONDO_0018047	familial thrombomodulin anomalies	http://purl.obolibrary.org/obo/MONDO_0021181	inherited blood coagulation disorder		
http://purl.obolibrary.org/obo/MONDO_0018794	cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		
http://purl.obolibrary.org/obo/MONDO_0957097	hereditary hemolytic uremic syndrome	http://purl.obolibrary.org/obo/MONDO_0001549	hemolytic-uremic syndrome		
http://purl.obolibrary.org/obo/MONDO_0100326	Glanzmann thrombasthenia	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		
http://purl.obolibrary.org/obo/MONDO_0010781	ataxia and polyneuropathy, adult-onset	http://purl.obolibrary.org/obo/MONDO_0021190	DNA repair disease		
http://purl.obolibrary.org/obo/MONDO_0020771	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0014399	ataxia-telangiectasia-like disorder 2	http://purl.obolibrary.org/obo/MONDO_0011457	ataxia-telangiectasia-like disorder		
http://purl.obolibrary.org/obo/MONDO_0016100	rippling muscle disease with myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0008913	cardiac valvular defect, developmental	http://purl.obolibrary.org/obo/MONDO_0031323	cardiac valvular defect		
http://purl.obolibrary.org/obo/MONDO_0009168	Fowler syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009467	natal teeth-intestinal pseudoobstruction-patent ductus syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0010081	subaortic stenosis, membranous	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		
http://purl.obolibrary.org/obo/MONDO_0011411	Chudley-McCullough syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012462	autosomal recessive frontotemporal pachygyria	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0012634	craniofacial dysplasia - osteopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0016416	diphallia	http://purl.obolibrary.org/obo/MONDO_0003150	male reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0017471	congenital patella dislocation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0017474	macrodactyly of fingers	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0017475	macrodactyly of toes	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0019938	anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0010441	CK syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0016583	familial intestinal malrotation-facial anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0008666	volvulus of midgut		
http://purl.obolibrary.org/obo/MONDO_0017406	hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		
http://purl.obolibrary.org/obo/MONDO_0017468	congenital shoulder dislocation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0017469	congenital elbow dislocation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0017470	congenital knee dislocation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0017476	upper limb hypertrophy	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0017808	duplication of the pituitary gland	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0018655	hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	http://purl.obolibrary.org/obo/MONDO_0011897	leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism		
http://purl.obolibrary.org/obo/MONDO_0018703	isolated splenogonadal fusion	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0018780	congenital generalized hypercontractile muscle stiffness syndrome	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0019007	vaginal atresia	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0013394	porencephaly-microcephaly-bilateral congenital cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0979319	congenital peritoneal encapsulation	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		
http://purl.obolibrary.org/obo/MONDO_0035449	atelencephaly	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0035450	aprosencephaly	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0971109	isolated congenital femoral bifurcation	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0045011	keratinization disease	http://purl.obolibrary.org/obo/MONDO_0002051	integumentary system disorder		
http://purl.obolibrary.org/obo/MONDO_0045019	lactation disease	http://purl.obolibrary.org/obo/MONDO_0002657	breast disorder		
http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation	http://purl.obolibrary.org/obo/MONDO_0000471	tricuspid valve disorder		
http://purl.obolibrary.org/obo/MONDO_0014527	progeroid features-hepatocellular carcinoma predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0015256	blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0021147	disorder of development or morphogenesis		
http://purl.obolibrary.org/obo/MONDO_0015838	cordiform uterus	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0015839	septate uterus	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0015842	bicornuate uterus	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0015843	uterine hypoplasia	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0015844	agenesis and aplasia of uterine body	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0015845	uterine cervical aplasia and agenesis	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0025986	megacystis-microcolon-intestinal hypoperistalsis syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/HP_0001642	Pulmonic stenosis	http://purl.obolibrary.org/obo/HP_0031654	Abnormal pulmonary valve physiology		
http://purl.obolibrary.org/obo/HP_0010444	Pulmonic regurgitation	http://purl.obolibrary.org/obo/HP_0031654	Abnormal pulmonary valve physiology		
http://purl.obolibrary.org/obo/HP_0000356	Abnormality of the outer ear	http://purl.obolibrary.org/obo/HP_0031703	Abnormal ear morphology		
http://purl.obolibrary.org/obo/HP_0000359	Abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0031703	Abnormal ear morphology		
http://purl.obolibrary.org/obo/HP_0000370	Abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0031703	Abnormal ear morphology		
http://purl.obolibrary.org/obo/HP_0008771	Aplasia/Hypoplasia of the ear	http://purl.obolibrary.org/obo/HP_0031703	Abnormal ear morphology		
http://purl.obolibrary.org/obo/HP_0012780	Neoplasm of the ear	http://purl.obolibrary.org/obo/HP_0011793	Neoplasm by anatomical site		
http://purl.obolibrary.org/obo/HP_0000364	Hearing abnormality	http://purl.obolibrary.org/obo/HP_0031704	Abnormal ear physiology		
http://purl.obolibrary.org/obo/HP_0011389	Functional abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0031704	Abnormal ear physiology		
http://purl.obolibrary.org/obo/MONDO_0022729	chondrodysplasia punctata with steroid sulfatase deficiency	http://purl.obolibrary.org/obo/MONDO_0022723	chondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0023472	chondrodysplasia situs inversus imperforate anus polydactyly	http://purl.obolibrary.org/obo/MONDO_0022723	chondrodysplasia		
http://purl.obolibrary.org/obo/IAO_8000017	ontology module subsetted by expressivity	http://purl.obolibrary.org/obo/IAO_8000006	subset ontology module		
http://purl.obolibrary.org/obo/NCBITaxon_6681	Malacostraca	http://purl.obolibrary.org/obo/NCBITaxon_2172821	Multicrustacea		
http://purl.obolibrary.org/obo/GO_0006704	glucocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0008211	glucocorticoid metabolic process		
http://purl.obolibrary.org/obo/GO_0006705	mineralocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0042446	hormone biosynthetic process		
http://purl.obolibrary.org/obo/GO_1903108	regulation of mitochondrial transcription	http://purl.obolibrary.org/obo/GO_0006355	regulation of DNA-templated transcription		
http://purl.obolibrary.org/obo/GO_0070129	regulation of mitochondrial translation	http://purl.obolibrary.org/obo/GO_0006417	regulation of translation		
http://purl.obolibrary.org/obo/MAXO_0000259	insulin treatment	http://purl.obolibrary.org/obo/MAXO_0000572	hypoglycemic drug therapy		
http://purl.obolibrary.org/obo/MAXO_0000220	glucocorticicoid agent therapy	http://purl.obolibrary.org/obo/MAXO_0000300	inflammatory bowel disease agent therapy		
http://purl.obolibrary.org/obo/GO_0034650	cortisol metabolic process	http://purl.obolibrary.org/obo/GO_1902644	tertiary alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_0034651	cortisol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902645	tertiary alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0061370	testosterone biosynthetic process	http://purl.obolibrary.org/obo/GO_0042181	ketone biosynthetic process		
http://purl.obolibrary.org/obo/CL_1000320	large intestine goblet cell	http://purl.obolibrary.org/obo/CL_0002253	epithelial cell of large intestine		
http://purl.obolibrary.org/obo/CL_1000495	small intestine goblet cell	http://purl.obolibrary.org/obo/CL_1001598	small intestine secretory cell		
http://purl.obolibrary.org/obo/CL_0002203	tuft cell of large intestine	http://purl.obolibrary.org/obo/CL_0002253	epithelial cell of large intestine		
http://purl.obolibrary.org/obo/CL_0009080	tuft cell of small intestine	http://purl.obolibrary.org/obo/CL_0002254	epithelial cell of small intestine		
http://purl.obolibrary.org/obo/SO_0000651	cytosolic_LSU_rRNA	http://purl.obolibrary.org/obo/SO_0002343	cytosolic_rRNA		
http://purl.obolibrary.org/obo/MONDO_0020724	cerebral cavernous malformation 1	http://purl.obolibrary.org/obo/MONDO_0031037	famililal cerebral cavernous malformations		
http://purl.obolibrary.org/obo/MONDO_0859192	cerebral cavernous malformation 4	http://purl.obolibrary.org/obo/MONDO_0031037	famililal cerebral cavernous malformations		
http://purl.obolibrary.org/obo/MONDO_0975952	cerebral cavernous malformations 5	http://purl.obolibrary.org/obo/MONDO_0031037	famililal cerebral cavernous malformations		
http://purl.obolibrary.org/obo/MONDO_0800301	Friedreich ataxia with retained reflexes	http://purl.obolibrary.org/obo/MONDO_0100339	Friedreich ataxia		
http://purl.obolibrary.org/obo/HP_0011729	Abnormality of joint mobility	http://purl.obolibrary.org/obo/HP_0034430	Abnormal joint physiology		
http://purl.obolibrary.org/obo/ENVO_00000304	shore	http://purl.obolibrary.org/obo/ENVO_01001884	surface landform		
http://purl.obolibrary.org/obo/ENVO_00000176	elevated landform	http://purl.obolibrary.org/obo/ENVO_01001886	landform		
http://purl.obolibrary.org/obo/ENVO_00000309	depressed landform	http://purl.obolibrary.org/obo/ENVO_01001886	landform		
http://purl.obolibrary.org/obo/ENVO_00002000	slope	http://purl.obolibrary.org/obo/ENVO_01001886	landform		
http://purl.obolibrary.org/obo/ENVO_01003003	particle of clay	http://purl.obolibrary.org/obo/ENVO_01003002	particle		
http://purl.obolibrary.org/obo/ENVO_00000340	particle of sand	http://purl.obolibrary.org/obo/ENVO_01003002	particle		
http://purl.obolibrary.org/obo/MONDO_0957530	breast-ovarian cancer, familial, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0100526	breast-ovarian cancer, familial, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_7770567	myopathy, 'dozer lamb syndrome', sheep	http://purl.obolibrary.org/obo/MONDO_1010195	myopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0024965	muscular dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012983	neuromuscular disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0032814	microangiopathy and leukoencephalopathy, pontine, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0014945	myopathy, distal, with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0018949	distal myopathy		
http://purl.obolibrary.org/obo/MONDO_0013234	hypokalemic periodic paralysis, type 2	http://purl.obolibrary.org/obo/MONDO_0008223	hypokalemic periodic paralysis		
http://purl.obolibrary.org/obo/MONDO_0031169	odontochondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0030482	spastic paraplegia 84, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0014679	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0035664	neuromyelitis optica spectrum disorder with anti-MOG antibodies	http://purl.obolibrary.org/obo/MONDO_0019100	neuromyelitis optica		
http://purl.obolibrary.org/obo/MONDO_0035666	acute transverse myelitis with anti-MOG antibodies	http://purl.obolibrary.org/obo/MONDO_0015342	acute transverse myelitis		
http://purl.obolibrary.org/obo/MONDO_0035668	isolated optic neuritis with anti-MOG antibodies	http://purl.obolibrary.org/obo/MONDO_0044688	isolated optic neuritis		
http://purl.obolibrary.org/obo/MONDO_0035669	acute disseminated encephalomyelitis with anti-MOG antibodies	http://purl.obolibrary.org/obo/MONDO_0019383	acute disseminated encephalomyelitis		
http://purl.obolibrary.org/obo/MONDO_0030978	ENDOVE syndrome, limb-only type	http://purl.obolibrary.org/obo/MONDO_1040032	EN1-related dorsoventral syndrome		
http://purl.obolibrary.org/obo/MONDO_0030979	ENDOVE syndrome, limb-brain type	http://purl.obolibrary.org/obo/MONDO_1040032	EN1-related dorsoventral syndrome		
http://purl.obolibrary.org/obo/MONDO_1012009	renal amyloidosis, dog	http://purl.obolibrary.org/obo/MONDO_1011903	renal amyloidosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012093	glomerulonephropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011905	glomerulonephropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012186	nephropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011907	nephropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012219	polycystic mononephrosis, dog	http://purl.obolibrary.org/obo/MONDO_1011908	polycystic mononephrosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012237	renal insufficiency, dog	http://purl.obolibrary.org/obo/MONDO_1011911	renal insufficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012238	renal nephropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011912	renal nephropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012367	protein-losing nephropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011914	protein-losing nephropathy, non-human animal		
http://purl.obolibrary.org/obo/NCBITaxon_9223	Psittaciformes	http://purl.obolibrary.org/obo/NCBITaxon_3073809	Australaves		
http://purl.obolibrary.org/obo/NCBITaxon_9126	Passeriformes	http://purl.obolibrary.org/obo/NCBITaxon_3073809	Australaves		
http://purl.obolibrary.org/obo/NCBITaxon_2558200	Accipitriformes	http://purl.obolibrary.org/obo/NCBITaxon_3073811	Accipitrimorphae		
http://purl.obolibrary.org/obo/NCBITaxon_3073803	Mirandornithes	http://purl.obolibrary.org/obo/NCBITaxon_3078114	Neoaves		
http://purl.obolibrary.org/obo/NCBITaxon_3073808	Telluraves	http://purl.obolibrary.org/obo/NCBITaxon_3078114	Neoaves		
http://purl.obolibrary.org/obo/NCBITaxon_3073799	Columbimorphae	http://purl.obolibrary.org/obo/NCBITaxon_3078114	Neoaves		
http://purl.obolibrary.org/obo/NCBITaxon_1980413	Hantaviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151837	Elliovirales		
http://purl.obolibrary.org/obo/NCBITaxon_1980416	Peribunyaviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151837	Elliovirales		
http://purl.obolibrary.org/obo/NCBITaxon_32066	Fusobacteriota	http://purl.obolibrary.org/obo/NCBITaxon_3384189	Fusobacteriati		
http://purl.obolibrary.org/obo/HP_0003941	Stippled calcification of the elbow	http://purl.obolibrary.org/obo/HP_0020300	Abnormal elbow morphology		
http://purl.obolibrary.org/obo/HP_0003943	Abnormality of the joint spaces of the elbow	http://purl.obolibrary.org/obo/HP_0020300	Abnormal elbow morphology		
http://purl.obolibrary.org/obo/HP_0003946	Abnormal elbow epiphysis morphology	http://purl.obolibrary.org/obo/HP_0003839	Abnormal upper limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003949	Abnormal elbow metaphysis morphology	http://purl.obolibrary.org/obo/HP_0009809	Abnormal upper limb metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0100744	Abnormality of the humeroradial joint	http://purl.obolibrary.org/obo/HP_0020300	Abnormal elbow morphology		
http://purl.obolibrary.org/obo/HP_0100745	Abnormality of the humeroulnar joint	http://purl.obolibrary.org/obo/HP_0020300	Abnormal elbow morphology		
http://purl.obolibrary.org/obo/HP_0002996	Limited elbow movement	http://purl.obolibrary.org/obo/HP_0001376	Limitation of joint mobility		
http://purl.obolibrary.org/obo/HP_0003042	Elbow dislocation	http://purl.obolibrary.org/obo/HP_0030310	Upper extremity joint dislocation		
http://purl.obolibrary.org/obo/HP_0100299	Muscle fiber inclusion bodies	http://purl.obolibrary.org/obo/HP_0004303	Abnormal muscle fiber morphology		
http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease	http://purl.obolibrary.org/obo/MONDO_7770007	disease by developmental or physiological process		
http://purl.obolibrary.org/obo/MONDO_0032756	long QT syndrome 8	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		
http://purl.obolibrary.org/obo/MONDO_0859286	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0013066	46,XY sex reversal 3	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/CHEBI_26766	steroid lactone	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		
http://purl.obolibrary.org/obo/CHEBI_27216	urate(2-)	http://purl.obolibrary.org/obo/CHEBI_46818	urate anion		
http://purl.obolibrary.org/obo/CHEBI_22881	biopterins	http://purl.obolibrary.org/obo/CHEBI_26375	pterins		
http://purl.obolibrary.org/obo/CHEBI_30436	tetrahydropterin	http://purl.obolibrary.org/obo/CHEBI_26375	pterins		
http://purl.obolibrary.org/obo/CHEBI_35875	imidazopyrimidine	http://purl.obolibrary.org/obo/CHEBI_33833	heteroarene		
http://purl.obolibrary.org/obo/CHEBI_38297	thiabicycloalkane	http://purl.obolibrary.org/obo/CHEBI_38106	organosulfur heterocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_36078	cholanoid	http://purl.obolibrary.org/obo/CHEBI_35341	steroid		
http://purl.obolibrary.org/obo/CHEBI_26151	piperidines	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_37949	azacycloalkane	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_38925	benzopteridine	http://purl.obolibrary.org/obo/CHEBI_26979	organic heterotricyclic compound		
http://purl.obolibrary.org/obo/CHEBI_49103	drug metabolite	http://purl.obolibrary.org/obo/CHEBI_76967	human xenobiotic metabolite		
http://purl.obolibrary.org/obo/CHEBI_44185	methotrexate	http://purl.obolibrary.org/obo/CHEBI_35692	dicarboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_36887	18-oxo steroid	http://purl.obolibrary.org/obo/CHEBI_35789	oxo steroid		
http://purl.obolibrary.org/obo/CHEBI_35740	liposaccharide	http://purl.obolibrary.org/obo/CHEBI_63299	carbohydrate derivative		
http://purl.obolibrary.org/obo/CHEBI_48975	substituted aniline	http://purl.obolibrary.org/obo/CHEBI_22562	anilines		
http://purl.obolibrary.org/obo/CHEBI_15372	5,6,7,8-tetrahydrobiopterin	http://purl.obolibrary.org/obo/CHEBI_30436	tetrahydropterin		
http://purl.obolibrary.org/obo/CHEBI_33408	pnictogen oxoacid	http://purl.obolibrary.org/obo/CHEBI_33302	pnictogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33484	chalcogen oxoacid	http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35605	carbon oxoacid	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_50634	acetazolamide(1-)	http://purl.obolibrary.org/obo/CHEBI_25696	organic anion		
http://purl.obolibrary.org/obo/CHEBI_37022	amino-acid anion	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_51447	organic univalent group	http://purl.obolibrary.org/obo/CHEBI_33247	organic group		
http://purl.obolibrary.org/obo/CHEBI_51446	organic divalent group	http://purl.obolibrary.org/obo/CHEBI_33247	organic group		
http://purl.obolibrary.org/obo/CHEBI_33666	polycyclic hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_33663	cyclic hydrocarbon		
http://purl.obolibrary.org/obo/CHEBI_36853	hydroxy seco-steroid	http://purl.obolibrary.org/obo/CHEBI_35350	hydroxy steroid		
http://purl.obolibrary.org/obo/CHEBI_38164	organic heteropentacyclic compound	http://purl.obolibrary.org/obo/CHEBI_38166	organic heteropolycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_38877	intravenous anaesthetic	http://purl.obolibrary.org/obo/CHEBI_38869	general anaesthetic		
http://purl.obolibrary.org/obo/CHEBI_46663	silicate mineral	http://purl.obolibrary.org/obo/CHEBI_46662	mineral		
http://purl.obolibrary.org/obo/CHEBI_46723	phosphate mineral	http://purl.obolibrary.org/obo/CHEBI_46662	mineral		
http://purl.obolibrary.org/obo/CHEBI_46725	oxide mineral	http://purl.obolibrary.org/obo/CHEBI_24836	inorganic oxide		
http://purl.obolibrary.org/obo/CHEBI_22506	aminoglycan	http://purl.obolibrary.org/obo/CHEBI_35352	organonitrogen compound		
http://purl.obolibrary.org/obo/CHEBI_32594	barium atom	http://purl.obolibrary.org/obo/CHEBI_22313	alkaline earth metal atom		
http://purl.obolibrary.org/obo/CHEBI_30353	isopropyl group	http://purl.obolibrary.org/obo/CHEBI_50325	proteinogenic amino-acid side-chain group		
http://purl.obolibrary.org/obo/CHEBI_36830	monoanion	http://purl.obolibrary.org/obo/CHEBI_22563	anion		
http://purl.obolibrary.org/obo/CHEBI_23341	cobamides	http://purl.obolibrary.org/obo/CHEBI_23390	cobalt-corrinoid hexaamide		
http://purl.obolibrary.org/obo/CHEBI_33429	monoatomic monoanion	http://purl.obolibrary.org/obo/CHEBI_36830	monoanion		
http://purl.obolibrary.org/obo/CHEBI_25414	monoatomic monocation	http://purl.obolibrary.org/obo/CHEBI_23906	monoatomic cation		
http://purl.obolibrary.org/obo/CHEBI_52625	inorganic hydroxy compound	http://purl.obolibrary.org/obo/CHEBI_24835	inorganic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33461	phosphorus oxoanion	http://purl.obolibrary.org/obo/CHEBI_33459	pnictogen oxoanion		
http://purl.obolibrary.org/obo/CHEBI_24836	inorganic oxide	http://purl.obolibrary.org/obo/CHEBI_25741	oxide		
http://purl.obolibrary.org/obo/CHEBI_33242	inorganic hydride	http://purl.obolibrary.org/obo/CHEBI_33692	hydrides		
http://purl.obolibrary.org/obo/CHEBI_33262	elemental oxygen	http://purl.obolibrary.org/obo/CHEBI_33259	elemental molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33465	elemental pnictogen	http://purl.obolibrary.org/obo/CHEBI_33302	pnictogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_36093	inorganic chloride	http://purl.obolibrary.org/obo/CHEBI_23114	chloride salt		
http://purl.obolibrary.org/obo/CHEBI_24868	organic salt	http://purl.obolibrary.org/obo/CHEBI_24866	salt		
http://purl.obolibrary.org/obo/CHEBI_35479	alkali metal salt	http://purl.obolibrary.org/obo/CHEBI_33296	alkali metal molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33504	alkali metal cation	http://purl.obolibrary.org/obo/CHEBI_25213	metal cation		
http://purl.obolibrary.org/obo/CHEBI_36527	glycosylsphingoid	http://purl.obolibrary.org/obo/CHEBI_25513	neutral glycosphingolipid		
http://purl.obolibrary.org/obo/CHEBI_33309	noble gas atom	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		
http://purl.obolibrary.org/obo/CHEBI_26833	sulfur atom	http://purl.obolibrary.org/obo/CHEBI_33303	chalcogen		
http://purl.obolibrary.org/obo/CHEBI_35555	mancude organic heteromonocyclic parent	http://purl.obolibrary.org/obo/CHEBI_35571	mancude organic heterocyclic parent		
http://purl.obolibrary.org/obo/CHEBI_38099	thiadiazoles	http://purl.obolibrary.org/obo/CHEBI_25693	organic heteromonocyclic compound		
http://purl.obolibrary.org/obo/CHEBI_36389	saturated organic heteromonocyclic parent	http://purl.obolibrary.org/obo/CHEBI_36388	saturated organic heterocyclic parent		
http://purl.obolibrary.org/obo/CHEBI_23014	carbon oxide	http://purl.obolibrary.org/obo/CHEBI_36963	organooxygen compound		
http://purl.obolibrary.org/obo/CHEBI_25703	organic phosphate	http://purl.obolibrary.org/obo/CHEBI_26079	phosphoric acid derivative		
http://purl.obolibrary.org/obo/CHEBI_37247	elemental potassium	http://purl.obolibrary.org/obo/CHEBI_26217	potassium molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33327	silicon oxide	http://purl.obolibrary.org/obo/CHEBI_24836	inorganic oxide		
http://purl.obolibrary.org/obo/CHEBI_37246	elemental sodium	http://purl.obolibrary.org/obo/CHEBI_26712	sodium molecular entity		
http://purl.obolibrary.org/obo/CHEBI_38700	organic sodium salt	http://purl.obolibrary.org/obo/CHEBI_24868	organic salt		
http://purl.obolibrary.org/obo/CHEBI_33433	monoatomic halogen	http://purl.obolibrary.org/obo/CHEBI_33238	monoatomic entity		
http://purl.obolibrary.org/obo/CHEBI_33861	transition element coordination entity	http://purl.obolibrary.org/obo/CHEBI_33497	transition element molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35507	natural product fundamental parent	http://purl.obolibrary.org/obo/CHEBI_33245	organic fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_35552	heterocyclic organic fundamental parent	http://purl.obolibrary.org/obo/CHEBI_33245	organic fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_35573	organic mancude parent	http://purl.obolibrary.org/obo/CHEBI_35568	mancude ring		
http://purl.obolibrary.org/obo/CHEBI_33434	elemental halogen	http://purl.obolibrary.org/obo/CHEBI_33259	elemental molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33780	beryllium molecular entity	http://purl.obolibrary.org/obo/CHEBI_33299	alkaline earth molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33459	pnictogen oxoanion	http://purl.obolibrary.org/obo/CHEBI_35406	oxoanion		
http://purl.obolibrary.org/obo/CHEBI_35881	pnictogen hydride	http://purl.obolibrary.org/obo/CHEBI_33242	inorganic hydride		
http://purl.obolibrary.org/obo/CHEBI_36902	chalcogen hydride	http://purl.obolibrary.org/obo/CHEBI_33242	inorganic hydride		
http://purl.obolibrary.org/obo/CHEBI_26835	sulfur molecular entity	http://purl.obolibrary.org/obo/CHEBI_33304	chalcogen molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33485	chalcogen oxoanion	http://purl.obolibrary.org/obo/CHEBI_35406	oxoanion		
http://purl.obolibrary.org/obo/CHEBI_27363	zinc atom	http://purl.obolibrary.org/obo/BFO_0000004	independent continuant		
http://purl.obolibrary.org/obo/CHEBI_33561	d-block element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_30217	helium atom	http://purl.obolibrary.org/obo/CHEBI_33309	noble gas atom		
http://purl.obolibrary.org/obo/CHEBI_49475	argon atom	http://purl.obolibrary.org/obo/CHEBI_33309	noble gas atom		
http://purl.obolibrary.org/obo/CHEBI_33836	benzenoid aromatic compound	http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_33663	cyclic hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_24632	hydrocarbon		
http://purl.obolibrary.org/obo/CHEBI_33659	organic aromatic compound	http://purl.obolibrary.org/obo/CHEBI_33655	aromatic compound		
http://purl.obolibrary.org/obo/CHEBI_51958	organic polycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33635	polycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_23114	chloride salt	http://purl.obolibrary.org/obo/CHEBI_23117	chlorine molecular entity		
http://purl.obolibrary.org/obo/CHEBI_35344	21-hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_35350	hydroxy steroid		
http://purl.obolibrary.org/obo/CHEBI_36841	11-hydroxy steroid	http://purl.obolibrary.org/obo/CHEBI_35350	hydroxy steroid		
http://purl.obolibrary.org/obo/CHEBI_35722	sulfated glycosaminoglycan	http://purl.obolibrary.org/obo/CHEBI_18085	glycosaminoglycan		
http://purl.obolibrary.org/obo/CHEBI_48278	serotonergic drug	http://purl.obolibrary.org/obo/CHEBI_35942	neurotransmitter agent		
http://purl.obolibrary.org/obo/CHEBI_25865	penicillanic acids	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_47811	penamcarboxylate	http://purl.obolibrary.org/obo/CHEBI_35757	monocarboxylic acid anion		
http://purl.obolibrary.org/obo/CHEBI_26079	phosphoric acid derivative	http://purl.obolibrary.org/obo/CHEBI_36359	phosphorus oxoacid derivative		
http://purl.obolibrary.org/obo/CHEBI_36961	chalcocarbonic acid	http://purl.obolibrary.org/obo/CHEBI_36962	organochalcogen compound		
http://purl.obolibrary.org/obo/CHEBI_33241	oxoacid derivative	http://purl.obolibrary.org/obo/CHEBI_37577	heteroatomic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_25355	mitochondrial respiratory-chain inhibitor	http://purl.obolibrary.org/obo/CHEBI_38497	respiratory-chain inhibitor		
http://purl.obolibrary.org/obo/CHEBI_50329	2-carboxyethyl group	http://purl.obolibrary.org/obo/CHEBI_50325	proteinogenic amino-acid side-chain group		
http://purl.obolibrary.org/obo/CHEBI_50336	4-hydroxybenzyl group	http://purl.obolibrary.org/obo/CHEBI_50325	proteinogenic amino-acid side-chain group		
http://purl.obolibrary.org/obo/CHEBI_35106	nitrogen hydride	http://purl.obolibrary.org/obo/CHEBI_35881	pnictogen hydride		
http://purl.obolibrary.org/obo/CHEBI_33267	elemental nitrogen	http://purl.obolibrary.org/obo/CHEBI_33465	elemental pnictogen		
http://purl.obolibrary.org/obo/CHEBI_32859	valinate	http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion		
http://purl.obolibrary.org/obo/CHEBI_37134	elemental barium	http://purl.obolibrary.org/obo/CHEBI_37133	barium molecular entity		
http://purl.obolibrary.org/obo/CHEBI_37325	alloxazine	http://purl.obolibrary.org/obo/CHEBI_37326	benzo[g]pteridine-2,4-dione		
http://purl.obolibrary.org/obo/CHEBI_50817	iron oxide mineral	http://purl.obolibrary.org/obo/CHEBI_46725	oxide mineral		
http://purl.obolibrary.org/obo/HP_0007371	Corpus callosum atrophy	http://purl.obolibrary.org/obo/HP_0033725	Thin corpus callosum		
http://purl.obolibrary.org/obo/HP_0006266	Small placenta	http://purl.obolibrary.org/obo/HP_0012767	Abnormal placental size		
http://purl.obolibrary.org/obo/HP_0006267	Large placenta	http://purl.obolibrary.org/obo/HP_0012767	Abnormal placental size		
http://purl.obolibrary.org/obo/HP_0007774	Hypoplasia of the ciliary body	http://purl.obolibrary.org/obo/HP_0008055	Aplasia/Hypoplasia affecting the uvea		
http://purl.obolibrary.org/obo/HP_0012205	Globozoospermia	http://purl.obolibrary.org/obo/HP_0012865	Abnormal sperm head morphology		
http://purl.obolibrary.org/obo/HP_0002024	Malabsorption	http://purl.obolibrary.org/obo/HP_0025032	Abnormality of digestive system physiology		
http://purl.obolibrary.org/obo/HP_0002578	Gastroparesis	http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology		
http://purl.obolibrary.org/obo/HP_0012700	Abnormal large intestine physiology	http://purl.obolibrary.org/obo/HP_0025032	Abnormality of digestive system physiology		
http://purl.obolibrary.org/obo/HP_0012719	Functional abnormality of the gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0011024	Abnormality of the gastrointestinal tract		
http://purl.obolibrary.org/obo/HP_0012385	Camptodactyly	http://purl.obolibrary.org/obo/HP_0030044	Flexion contracture of digit		
http://purl.obolibrary.org/obo/HP_0005830	Flexion contracture of toe	http://purl.obolibrary.org/obo/HP_0034675	Toe joint contracture		
http://purl.obolibrary.org/obo/HP_0006956	Lateral ventricle dilatation	http://purl.obolibrary.org/obo/HP_0002119	Ventriculomegaly		
http://purl.obolibrary.org/obo/HP_0009007	Biceps hypoplasia	http://purl.obolibrary.org/obo/HP_0009782	Aplasia/Hypoplasia of the biceps		
http://purl.obolibrary.org/obo/HP_0100855	Triceps hypoplasia	http://purl.obolibrary.org/obo/HP_0009784	Aplasia/Hypoplasia of the triceps		
http://purl.obolibrary.org/obo/HP_0006387	Wide distal femoral metaphysis	http://purl.obolibrary.org/obo/HP_0006417	Wide femoral metaphysis		
http://purl.obolibrary.org/obo/HP_0010628	Facial palsy	http://purl.obolibrary.org/obo/HP_0010827	Abnormal seventh cranial physiology		
http://purl.obolibrary.org/obo/HP_0007209	Facial paralysis	http://purl.obolibrary.org/obo/HP_0003470	Paralysis		
http://purl.obolibrary.org/obo/HP_0032028	Macular dots	http://purl.obolibrary.org/obo/HP_0030500	Yellow/white macular lesion		
http://purl.obolibrary.org/obo/HP_0011460	Embryonal onset	http://purl.obolibrary.org/obo/HP_0030674	Antenatal onset		
http://purl.obolibrary.org/obo/HP_0011461	Fetal onset	http://purl.obolibrary.org/obo/HP_0030674	Antenatal onset		
http://purl.obolibrary.org/obo/HP_0010576	Intracranial cystic lesion	http://purl.obolibrary.org/obo/HP_0030724	Central nervous system cyst		
http://purl.obolibrary.org/obo/HP_0010307	Stridor	http://purl.obolibrary.org/obo/HP_0030829	Abnormal breath sound		
http://purl.obolibrary.org/obo/HP_0030828	Wheezing	http://purl.obolibrary.org/obo/HP_0030829	Abnormal breath sound		
http://purl.obolibrary.org/obo/HP_0011420	Age of death	http://purl.obolibrary.org/obo/HP_0040006	Mortality/Aging		
http://purl.obolibrary.org/obo/HP_0007542	Absent pigmentation of the ventral chest	http://purl.obolibrary.org/obo/HP_0040007	Absent pigmentation of chest		
http://purl.obolibrary.org/obo/HP_0010667	Aplasia of the maxilla	http://purl.obolibrary.org/obo/HP_0000326	Abnormal maxilla morphology		
http://purl.obolibrary.org/obo/HP_0010757	Aplasia of the premaxilla	http://purl.obolibrary.org/obo/HP_0010756	Aplasia/Hypoplasia of the premaxilla		
http://purl.obolibrary.org/obo/HP_0011845	Short second metatarsal	http://purl.obolibrary.org/obo/HP_0010743	Short metatarsal		
http://purl.obolibrary.org/obo/HP_0007840	Long upper eyelashes	http://purl.obolibrary.org/obo/HP_0000527	Long eyelashes		
http://purl.obolibrary.org/obo/HP_0040050	Sparse upper eyelashes	http://purl.obolibrary.org/obo/HP_0000653	Sparse eyelashes		
http://purl.obolibrary.org/obo/HP_0040054	Short upper eyelashes	http://purl.obolibrary.org/obo/HP_0010764	Short eyelashes		
http://purl.obolibrary.org/obo/HP_0007776	Sparse lower eyelashes	http://purl.obolibrary.org/obo/HP_0000653	Sparse eyelashes		
http://purl.obolibrary.org/obo/HP_0040053	Long lower eyelashes	http://purl.obolibrary.org/obo/HP_0000527	Long eyelashes		
http://purl.obolibrary.org/obo/HP_0040055	Short lower eyelashes	http://purl.obolibrary.org/obo/HP_0010764	Short eyelashes		
http://purl.obolibrary.org/obo/HP_0011839	Abnormal total T cell count	http://purl.obolibrary.org/obo/HP_0002843	Abnormal T cell morphology		
http://purl.obolibrary.org/obo/HP_0001888	Decreased total lymphocyte count	http://purl.obolibrary.org/obo/HP_0040088	Abnormal lymphocyte count		
http://purl.obolibrary.org/obo/HP_0010975	Abnormal B cell count	http://purl.obolibrary.org/obo/HP_0002846	Abnormal B cell morphology		
http://purl.obolibrary.org/obo/HP_0100827	Increased total lymphocyte count	http://purl.obolibrary.org/obo/HP_0040088	Abnormal lymphocyte count		
http://purl.obolibrary.org/obo/HP_0005625	Osteoporosis of vertebrae	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		
http://purl.obolibrary.org/obo/HP_0008665	Clitoral hypertrophy	http://purl.obolibrary.org/obo/HP_0040253	Increased size of the clitoris		
http://purl.obolibrary.org/obo/HP_0010301	Spinal dysraphism	http://purl.obolibrary.org/obo/HP_0002143	Abnormal spinal cord morphology		
http://purl.obolibrary.org/obo/HP_0034237	Open neural tube defect	http://purl.obolibrary.org/obo/HP_0045005	Neural tube defect		
http://purl.obolibrary.org/obo/HP_0034238	Closed neural tube defect	http://purl.obolibrary.org/obo/HP_0045005	Neural tube defect		
http://purl.obolibrary.org/obo/HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0006496	Aplasia/hypoplasia involving bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0009825	Aplasia involving bones of the extremities	http://purl.obolibrary.org/obo/HP_0045060	Aplasia/hypoplasia involving bones of the extremities		
http://purl.obolibrary.org/obo/HP_0007697	Hypoplasia of the lower eyelids	http://purl.obolibrary.org/obo/HP_0430009	Hypoplasia of eyelid		
http://purl.obolibrary.org/obo/HP_0040032	Hypoplasia of the upper eyelids	http://purl.obolibrary.org/obo/HP_0430009	Hypoplasia of eyelid		
http://purl.obolibrary.org/obo/HP_0005456	Absent ethmoidal sinuses	http://purl.obolibrary.org/obo/HP_0002689	Absent paranasal sinuses		
http://purl.obolibrary.org/obo/HP_0005290	Internal carotid artery hypoplasia	http://purl.obolibrary.org/obo/HP_3000062	Abnormal internal carotid artery morphology		
http://purl.obolibrary.org/obo/HP_0410006	Abnormality of ophthalmic artery	http://purl.obolibrary.org/obo/HP_3000062	Abnormal internal carotid artery morphology		
http://purl.obolibrary.org/obo/HP_0010826	Abnormality of the twelfth cranial nerve	http://purl.obolibrary.org/obo/HP_3000075	Abnormal lingual nerve morphology		
http://purl.obolibrary.org/obo/NCBITaxon_3136023	Pteropodoidea	http://purl.obolibrary.org/obo/NCBITaxon_30559	Yinpterochiroptera		
http://purl.obolibrary.org/obo/NCBITaxon_124129	Acipenserinae	http://purl.obolibrary.org/obo/NCBITaxon_7900	Acipenseridae		
http://purl.obolibrary.org/obo/NCBITaxon_9645	Ailuropoda	http://purl.obolibrary.org/obo/NCBITaxon_9632	Ursidae		
http://purl.obolibrary.org/obo/UBERON_0035005	preputial swelling of male	http://purl.obolibrary.org/obo/UBERON_0035004	preputial swelling		
http://purl.obolibrary.org/obo/NCBITaxon_10036	Mesocricetus auratus	http://purl.obolibrary.org/obo/NCBITaxon_10035	Mesocricetus		
http://purl.obolibrary.org/obo/NCBITaxon_47665	Phodopus campbelli	http://purl.obolibrary.org/obo/NCBITaxon_10043	Phodopus		
http://purl.obolibrary.org/obo/NCBITaxon_10047	Meriones unguiculatus	http://purl.obolibrary.org/obo/NCBITaxon_10046	Meriones		
http://purl.obolibrary.org/obo/NCBITaxon_291484	Hepatitis E virus	http://purl.obolibrary.org/obo/NCBITaxon_1009842	unclassified Hepeviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1678141	Orthohepevirus	http://purl.obolibrary.org/obo/NCBITaxon_1009842	unclassified Hepeviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10141	Cavia porcellus	http://purl.obolibrary.org/obo/NCBITaxon_10140	Cavia		
http://purl.obolibrary.org/obo/NCBITaxon_34839	Chinchilla lanigera	http://purl.obolibrary.org/obo/NCBITaxon_10151	Chinchilla		
http://purl.obolibrary.org/obo/NCBITaxon_1351	Enterococcus faecalis	http://purl.obolibrary.org/obo/NCBITaxon_1350	Enterococcus		
http://purl.obolibrary.org/obo/NCBITaxon_160	Treponema pallidum	http://purl.obolibrary.org/obo/NCBITaxon_157	Treponema		
http://purl.obolibrary.org/obo/NCBITaxon_37611	Estrildidae	http://purl.obolibrary.org/obo/NCBITaxon_175121	Passeroidea		
http://purl.obolibrary.org/obo/NCBITaxon_136841	Pseudomonas aeruginosa group	http://purl.obolibrary.org/obo/NCBITaxon_286	Pseudomonas		
http://purl.obolibrary.org/obo/NCBITaxon_6181	Schistosoma	http://purl.obolibrary.org/obo/NCBITaxon_31245	Schistosomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_34504	Paragonimus westermani	http://purl.obolibrary.org/obo/NCBITaxon_34503	Paragonimus		
http://purl.obolibrary.org/obo/NCBITaxon_51028	Enterobius vermicularis	http://purl.obolibrary.org/obo/NCBITaxon_51027	Enterobius		
http://purl.obolibrary.org/obo/NCBITaxon_562	Escherichia coli	http://purl.obolibrary.org/obo/NCBITaxon_561	Escherichia		
http://purl.obolibrary.org/obo/NCBITaxon_43075	Trichomonas tenax	http://purl.obolibrary.org/obo/NCBITaxon_5721	Trichomonas		
http://purl.obolibrary.org/obo/NCBITaxon_5722	Trichomonas vaginalis	http://purl.obolibrary.org/obo/NCBITaxon_5721	Trichomonas		
http://purl.obolibrary.org/obo/NCBITaxon_60468	Agapornis roseicollis	http://purl.obolibrary.org/obo/NCBITaxon_60461	Agapornis		
http://purl.obolibrary.org/obo/NCBITaxon_666	Vibrio cholerae	http://purl.obolibrary.org/obo/NCBITaxon_662	Vibrio		
http://purl.obolibrary.org/obo/NCBITaxon_7994	Astyanax mexicanus	http://purl.obolibrary.org/obo/NCBITaxon_7993	Astyanax		
http://purl.obolibrary.org/obo/NCBITaxon_8790	Dromaius novaehollandiae	http://purl.obolibrary.org/obo/NCBITaxon_8789	Dromaius		
http://purl.obolibrary.org/obo/NCBITaxon_9394	Tupaia	http://purl.obolibrary.org/obo/NCBITaxon_9393	Tupaiidae		
http://purl.obolibrary.org/obo/NCBITaxon_9615	Canis lupus familiaris	http://purl.obolibrary.org/obo/NCBITaxon_9612	Canis lupus		
http://purl.obolibrary.org/obo/NCBITaxon_494514	Vulpes lagopus	http://purl.obolibrary.org/obo/NCBITaxon_9625	Vulpes		
http://purl.obolibrary.org/obo/NCBITaxon_68732	Vulpes zerda	http://purl.obolibrary.org/obo/NCBITaxon_9625	Vulpes		
http://purl.obolibrary.org/obo/NCBITaxon_9627	Vulpes vulpes	http://purl.obolibrary.org/obo/NCBITaxon_9625	Vulpes		
http://purl.obolibrary.org/obo/NCBITaxon_9643	Ursus americanus	http://purl.obolibrary.org/obo/NCBITaxon_9639	Ursus		
http://purl.obolibrary.org/obo/NCBITaxon_9654	Procyon lotor	http://purl.obolibrary.org/obo/NCBITaxon_9653	Procyon		
http://purl.obolibrary.org/obo/NCBITaxon_169418	Mustelinae	http://purl.obolibrary.org/obo/NCBITaxon_9655	Mustelidae		
http://purl.obolibrary.org/obo/NCBITaxon_169417	Lutrinae	http://purl.obolibrary.org/obo/NCBITaxon_9655	Mustelidae		
http://purl.obolibrary.org/obo/NCBITaxon_69297	Tragelaphus eurycerus	http://purl.obolibrary.org/obo/NCBITaxon_9944	Tragelaphus		
http://purl.obolibrary.org/obo/NCBITaxon_59522	Antidorcas	http://purl.obolibrary.org/obo/NCBITaxon_9948	Antilopinae		
http://purl.obolibrary.org/obo/NCBITaxon_70999	Triatominae	http://purl.obolibrary.org/obo/NCBITaxon_27479	Reduviidae		
http://purl.obolibrary.org/obo/NCBITaxon_372083	Diphyllobothrium cordatum	http://purl.obolibrary.org/obo/NCBITaxon_28844	Diphyllobothrium		
http://purl.obolibrary.org/obo/NCBITaxon_5758	Entamoeba	http://purl.obolibrary.org/obo/NCBITaxon_33084	Entamoebidae		
http://purl.obolibrary.org/obo/NCBITaxon_40411	Chrysosporium	http://purl.obolibrary.org/obo/NCBITaxon_33184	Onygenaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5500	Coccidioides	http://purl.obolibrary.org/obo/NCBITaxon_33184	Onygenaceae		
http://purl.obolibrary.org/obo/NCBITaxon_9885	Muntiacus	http://purl.obolibrary.org/obo/NCBITaxon_34877	Muntiacinae		
http://purl.obolibrary.org/obo/NCBITaxon_9859	Cervus	http://purl.obolibrary.org/obo/NCBITaxon_34878	Cervinae		
http://purl.obolibrary.org/obo/NCBITaxon_35461	Chlorellaceae	http://purl.obolibrary.org/obo/NCBITaxon_35460	Chlorellales		
http://purl.obolibrary.org/obo/NCBITaxon_9090	Coturnix	http://purl.obolibrary.org/obo/NCBITaxon_466544	Perdicinae		
http://purl.obolibrary.org/obo/NCBITaxon_6282	Onchocerca volvulus	http://purl.obolibrary.org/obo/NCBITaxon_6281	Onchocerca		
http://purl.obolibrary.org/obo/NCBITaxon_42230	Mansonella	http://purl.obolibrary.org/obo/NCBITaxon_6296	Onchocercidae		
http://purl.obolibrary.org/obo/NCBITaxon_976	Bacteroidota	http://purl.obolibrary.org/obo/NCBITaxon_68336	Bacteroidota/Chlorobiota group		
http://purl.obolibrary.org/obo/NCBITaxon_9401	Pteropus	http://purl.obolibrary.org/obo/NCBITaxon_77225	Pteropodinae		
http://purl.obolibrary.org/obo/NCBITaxon_9739	Tursiops truncatus	http://purl.obolibrary.org/obo/NCBITaxon_9738	Tursiops		
http://purl.obolibrary.org/obo/NCBITaxon_685953	Philophthalmus	http://purl.obolibrary.org/obo/NCBITaxon_116926	Philophthalmidae		
http://purl.obolibrary.org/obo/NCBITaxon_41013	Tinea	http://purl.obolibrary.org/obo/NCBITaxon_236781	Tineinae		
http://purl.obolibrary.org/obo/NCBITaxon_27872	Xiphidiata	http://purl.obolibrary.org/obo/NCBITaxon_27871	Plagiorchiida		
http://purl.obolibrary.org/obo/NCBITaxon_116925	Troglotremata	http://purl.obolibrary.org/obo/NCBITaxon_27871	Plagiorchiida		
http://purl.obolibrary.org/obo/NCBITaxon_5873	Theileria	http://purl.obolibrary.org/obo/NCBITaxon_27994	Theileriidae		
http://purl.obolibrary.org/obo/NCBITaxon_11652	Primate lentivirus group	http://purl.obolibrary.org/obo/NCBITaxon_348386	unclassified Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_12721	Human immunodeficiency virus	http://purl.obolibrary.org/obo/NCBITaxon_348386	unclassified Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_5693	Trypanosoma cruzi	http://purl.obolibrary.org/obo/NCBITaxon_47570	Schizotrypanum		
http://purl.obolibrary.org/obo/NCBITaxon_12455	Borna disease virus	http://purl.obolibrary.org/obo/NCBITaxon_555864	unclassified Bornaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_5807	Cryptosporidium parvum	http://purl.obolibrary.org/obo/NCBITaxon_5806	Cryptosporidium		
http://purl.obolibrary.org/obo/NCBITaxon_84526	Heterophyidae	http://purl.obolibrary.org/obo/NCBITaxon_6194	Opisthorchiata		
http://purl.obolibrary.org/obo/NCBITaxon_2082223	Panagrolaimomorpha	http://purl.obolibrary.org/obo/NCBITaxon_6300	Tylenchina		
http://purl.obolibrary.org/obo/NCBITaxon_9217	Phoenicopterus ruber	http://purl.obolibrary.org/obo/NCBITaxon_9216	Phoenicopterus		
http://purl.obolibrary.org/obo/NCBITaxon_4858	Basidiobolaceae	http://purl.obolibrary.org/obo/NCBITaxon_1264872	Basidiobolales		
http://purl.obolibrary.org/obo/NCBITaxon_1257	Peptostreptococcus	http://purl.obolibrary.org/obo/NCBITaxon_186804	Peptostreptococcaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5738	Diplomonadida	http://purl.obolibrary.org/obo/NCBITaxon_207245	Fornicata		
http://purl.obolibrary.org/obo/NCBITaxon_29169	Ancylostoma	http://purl.obolibrary.org/obo/NCBITaxon_53469	Ancylostomatinae		
http://purl.obolibrary.org/obo/NCBITaxon_68459	Giardiinae	http://purl.obolibrary.org/obo/NCBITaxon_5739	Hexamitidae		
http://purl.obolibrary.org/obo/NCBITaxon_6258	Baylisascaris	http://purl.obolibrary.org/obo/NCBITaxon_6250	Ascarididae		
http://purl.obolibrary.org/obo/NCBITaxon_59263	Toxascaris	http://purl.obolibrary.org/obo/NCBITaxon_6250	Ascarididae		
http://purl.obolibrary.org/obo/NCBITaxon_6251	Ascaris	http://purl.obolibrary.org/obo/NCBITaxon_6250	Ascarididae		
http://purl.obolibrary.org/obo/NCBITaxon_4857	Entomophthorales	http://purl.obolibrary.org/obo/NCBITaxon_1399770	Entomophthoromycetes		
http://purl.obolibrary.org/obo/NCBITaxon_214035	Tunga penetrans	http://purl.obolibrary.org/obo/NCBITaxon_140713	Tunga		
http://purl.obolibrary.org/obo/NCBITaxon_7992	Characidae	http://purl.obolibrary.org/obo/NCBITaxon_1489739	Characoidei		
http://purl.obolibrary.org/obo/NCBITaxon_3391093	Acestrorhamphidae	http://purl.obolibrary.org/obo/NCBITaxon_1489739	Characoidei		
http://purl.obolibrary.org/obo/NCBITaxon_8113	Cichlidae	http://purl.obolibrary.org/obo/NCBITaxon_1489911	Cichliformes		
http://purl.obolibrary.org/obo/NCBITaxon_69291	Gasterosteidae	http://purl.obolibrary.org/obo/NCBITaxon_1490020	Gasterosteales		
http://purl.obolibrary.org/obo/NCBITaxon_33833	Vestibuliferida	http://purl.obolibrary.org/obo/NCBITaxon_163343	Trichostomatia		
http://purl.obolibrary.org/obo/NCBITaxon_9226	Ara ararauna	http://purl.obolibrary.org/obo/NCBITaxon_9225	Ara		
http://purl.obolibrary.org/obo/NCBITaxon_9851	Alces	http://purl.obolibrary.org/obo/NCBITaxon_9881	Odocoileinae		
http://purl.obolibrary.org/obo/NCBITaxon_9857	Capreolus	http://purl.obolibrary.org/obo/NCBITaxon_9881	Odocoileinae		
http://purl.obolibrary.org/obo/NCBITaxon_5691	Trypanosoma brucei	http://purl.obolibrary.org/obo/NCBITaxon_39700	Trypanozoon		
http://purl.obolibrary.org/obo/NCBITaxon_90338	Rhinosporidium	http://purl.obolibrary.org/obo/NCBITaxon_198624	Dermocystida		
http://purl.obolibrary.org/obo/NCBITaxon_3031449	Desulfovibrionia	http://purl.obolibrary.org/obo/NCBITaxon_200940	Thermodesulfobacteriota		
http://purl.obolibrary.org/obo/NCBITaxon_2039	Tropheryma whipplei	http://purl.obolibrary.org/obo/NCBITaxon_2038	Tropheryma		
http://purl.obolibrary.org/obo/NCBITaxon_194924	Desulfovibrionaceae	http://purl.obolibrary.org/obo/NCBITaxon_213115	Desulfovibrionales		
http://purl.obolibrary.org/obo/NCBITaxon_9688	Panthera	http://purl.obolibrary.org/obo/NCBITaxon_338153	Pantherinae		
http://purl.obolibrary.org/obo/NCBITaxon_7371	Calliphoridae	http://purl.obolibrary.org/obo/NCBITaxon_43755	Oestroidea		
http://purl.obolibrary.org/obo/NCBITaxon_7387	Oestridae	http://purl.obolibrary.org/obo/NCBITaxon_43755	Oestroidea		
http://purl.obolibrary.org/obo/NCBITaxon_28771	Rivulidae	http://purl.obolibrary.org/obo/NCBITaxon_45443	Aplocheiloidei		
http://purl.obolibrary.org/obo/NCBITaxon_6180	Strigeidida	http://purl.obolibrary.org/obo/NCBITaxon_6179	Digenea <flatworms>		
http://purl.obolibrary.org/obo/NCBITaxon_9650	Nasua	http://purl.obolibrary.org/obo/NCBITaxon_9647	Procyonidae		
http://purl.obolibrary.org/obo/NCBITaxon_89462	Bubalus bubalis	http://purl.obolibrary.org/obo/NCBITaxon_9918	Bubalus		
http://purl.obolibrary.org/obo/NCBITaxon_59728	Taeniopygia	http://purl.obolibrary.org/obo/NCBITaxon_40155	Estrildinae		
http://purl.obolibrary.org/obo/NCBITaxon_2212703	Mucoromycetes	http://purl.obolibrary.org/obo/NCBITaxon_451507	Mucoromycotina		
http://purl.obolibrary.org/obo/SO_0001500	heritable_phenotypic_marker	http://purl.obolibrary.org/obo/SO_0001645	genetic_marker		
http://purl.obolibrary.org/obo/GO_0007135	meiosis II	http://purl.obolibrary.org/obo/GO_0061983	meiosis II cell cycle process		
http://purl.obolibrary.org/obo/GO_0007140	male meiotic nuclear division	http://purl.obolibrary.org/obo/GO_0140013	meiotic nuclear division		
http://purl.obolibrary.org/obo/GO_0007143	female meiotic nuclear division	http://purl.obolibrary.org/obo/GO_0140013	meiotic nuclear division		
http://purl.obolibrary.org/obo/GO_0097711	ciliary basal body-plasma membrane docking	http://purl.obolibrary.org/obo/GO_0140056	organelle localization by membrane tethering		
http://purl.obolibrary.org/obo/HP_0006692	Short chordae tendineae of the tricuspid valve	http://purl.obolibrary.org/obo/HP_0031442	Abnormal tricuspid chordae tendinae morphology		
http://purl.obolibrary.org/obo/HP_0005150	Abnormal atrioventricular conduction	http://purl.obolibrary.org/obo/HP_0031546	Cardiac conduction abnormality		
http://purl.obolibrary.org/obo/HP_0012722	Heart block	http://purl.obolibrary.org/obo/HP_0031546	Cardiac conduction abnormality		
http://purl.obolibrary.org/obo/MONDO_0011571	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	http://purl.obolibrary.org/obo/MONDO_0007441	dentinogenesis imperfecta type 2		
http://purl.obolibrary.org/obo/MONDO_0012956	multiple sclerosis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0007462	multiple sclerosis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012957	multiple sclerosis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0007462	multiple sclerosis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012958	multiple sclerosis, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0007462	multiple sclerosis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0100168	desmoid tumor caused by somatic mutation	http://purl.obolibrary.org/obo/MONDO_0007608	desmoid tumor		
http://purl.obolibrary.org/obo/MONDO_0800209	fibrosis of extraocular muscles, congenital, 3b	http://purl.obolibrary.org/obo/MONDO_0007614	congenital fibrosis of extraocular muscles		
http://purl.obolibrary.org/obo/MONDO_0012262	fibrosis of extraocular muscles, congenital, 3c	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0012270	Tukel syndrome	http://purl.obolibrary.org/obo/MONDO_0007614	congenital fibrosis of extraocular muscles		
http://purl.obolibrary.org/obo/MONDO_0012310	fibrosis of extraocular muscles, congenital, with synergistic divergence	http://purl.obolibrary.org/obo/MONDO_0007614	congenital fibrosis of extraocular muscles		
http://purl.obolibrary.org/obo/MONDO_0015397	craniofacial microsomia	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		
http://purl.obolibrary.org/obo/MONDO_0859261	attention deficit-hyperactivity disorder 8	http://purl.obolibrary.org/obo/MONDO_0007743	attention deficit-hyperactivity disorder		
http://purl.obolibrary.org/obo/MONDO_0016000	familial isolated hypoparathyroidism due to impaired PTH secretion	http://purl.obolibrary.org/obo/MONDO_0007796	hypoparathyroidism, familial isolated 1		
http://purl.obolibrary.org/obo/MONDO_0011695	melanoma, uveal, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0007966	susceptibility to uveal melanoma		
http://purl.obolibrary.org/obo/MONDO_0011696	melanoma, uveal, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0007966	susceptibility to uveal melanoma		
http://purl.obolibrary.org/obo/MONDO_0011915	mitral valve prolapse, myxomatous 2	http://purl.obolibrary.org/obo/MONDO_0008004	familial mitral valve prolapse		
http://purl.obolibrary.org/obo/MONDO_0012569	mitral valve prolapse, myxomatous 3	http://purl.obolibrary.org/obo/MONDO_0008004	familial mitral valve prolapse		
http://purl.obolibrary.org/obo/MONDO_0024529	MVP1	http://purl.obolibrary.org/obo/MONDO_0008004	familial mitral valve prolapse		
http://purl.obolibrary.org/obo/MONDO_0008080	neurofibromatosis, type III, mixed central and peripheral	http://purl.obolibrary.org/obo/MONDO_0008075	schwannomatosis		
http://purl.obolibrary.org/obo/MONDO_0024517	SMARCB1-related schwannomatosis	http://purl.obolibrary.org/obo/MONDO_0008075	schwannomatosis		
http://purl.obolibrary.org/obo/MONDO_0014299	LZTR1-related schwannomatosis	http://purl.obolibrary.org/obo/MONDO_0008075	schwannomatosis		
http://purl.obolibrary.org/obo/MONDO_0979356	autosomal recessive hereditary chronic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0008185	hereditary chronic pancreatitis		
http://purl.obolibrary.org/obo/MONDO_0008200	autosomal dominant Parkinson disease 1	http://purl.obolibrary.org/obo/MONDO_0008199	late-onset Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0014604	Parkinson disease 21	http://purl.obolibrary.org/obo/MONDO_0008199	late-onset Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0017525	polydactyly of a triphalangeal thumb, unilateral	http://purl.obolibrary.org/obo/MONDO_0008270	polydactyly of a triphalangeal thumb		
http://purl.obolibrary.org/obo/MONDO_0017526	polydactyly of a triphalangeal thumb, bilateral	http://purl.obolibrary.org/obo/MONDO_0008270	polydactyly of a triphalangeal thumb		
http://purl.obolibrary.org/obo/MONDO_0017529	polysyndactyly, unilateral	http://purl.obolibrary.org/obo/MONDO_0008272	polysyndactyly 4		
http://purl.obolibrary.org/obo/MONDO_0017530	polysyndactyly, bilateral	http://purl.obolibrary.org/obo/MONDO_0008272	polysyndactyly 4		
http://purl.obolibrary.org/obo/MONDO_0800226	strabismus, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0008498	strabismus, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012351	zygodactyly type 1	http://purl.obolibrary.org/obo/MONDO_0008512	syndactyly type 1		
http://purl.obolibrary.org/obo/MONDO_0017543	zygodactyly type 2	http://purl.obolibrary.org/obo/MONDO_0008512	syndactyly type 1		
http://purl.obolibrary.org/obo/MONDO_0017544	zygodactyly type 3	http://purl.obolibrary.org/obo/MONDO_0008512	syndactyly type 1		
http://purl.obolibrary.org/obo/MONDO_0017545	zygodactyly type 4	http://purl.obolibrary.org/obo/MONDO_0008512	syndactyly type 1		
http://purl.obolibrary.org/obo/MONDO_0010752	VACTERL association, X-linked, with or without hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0010172	VACTERL with hydrocephalus		
http://purl.obolibrary.org/obo/MONDO_0010197	whistling face syndrome, recessive form	http://purl.obolibrary.org/obo/MONDO_0008675	Freeman-Sheldon syndrome		
http://purl.obolibrary.org/obo/MONDO_0800312	wooly hair, autosomal recessive 1, with or without hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0008686	isolated familial wooly hair disorder		
http://purl.obolibrary.org/obo/MONDO_0020717	autosomal dominant wooly hair	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0017972	classic congenital lipoid adrenal hyperplasia due to STAR deficency	http://purl.obolibrary.org/obo/MONDO_0008725	congenital lipoid adrenal hyperplasia due to STAR deficency		
http://purl.obolibrary.org/obo/MONDO_0017973	non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	http://purl.obolibrary.org/obo/MONDO_0008725	congenital lipoid adrenal hyperplasia due to STAR deficency		
http://purl.obolibrary.org/obo/MONDO_0012487	alopecia-intellectual disability syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008756	alopecia - intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0030009	alopecia-intellectual disability syndrome 4	http://purl.obolibrary.org/obo/MONDO_0008756	alopecia - intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0013492	alopecia-intellectual disability syndrome 3	http://purl.obolibrary.org/obo/MONDO_0008756	alopecia - intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0014696	cerebrooculofacioskeletal syndrome 3	http://purl.obolibrary.org/obo/MONDO_0008926	COFS syndrome		
http://purl.obolibrary.org/obo/MONDO_0013151	choroidal dystrophy, central areolar, 3	http://purl.obolibrary.org/obo/MONDO_0008982	central areolar choroidal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0976269	cranioectodermal dysplasia 5	http://purl.obolibrary.org/obo/MONDO_0009032	cranioectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0979883	cranioectodermal dysplasia 6	http://purl.obolibrary.org/obo/MONDO_0009032	cranioectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0013719	cranioectodermal dysplasia 4	http://purl.obolibrary.org/obo/MONDO_0009032	cranioectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0014915	short-rib thoracic dysplasia 16 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		
http://purl.obolibrary.org/obo/MONDO_0008569	thyroid hormone resistance, generalized, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0700478	resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta		
http://purl.obolibrary.org/obo/MONDO_0014955	RCBTB1-related retinopathy	http://purl.obolibrary.org/obo/MONDO_0009979	reticular dystrophy of the retinal pigment epithelium		
http://purl.obolibrary.org/obo/MONDO_0010603	hemophilia A with vascular abnormality	http://purl.obolibrary.org/obo/MONDO_0010602	hemophilia A		
http://purl.obolibrary.org/obo/MONDO_0800318	Emery-Dreifuss muscular dystrophy 6, X-linked	http://purl.obolibrary.org/obo/MONDO_0010680	X-linked Emery-Dreifuss muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0100531	Emery-Dreifuss muscular dystrophy 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0010680	X-linked Emery-Dreifuss muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0009090	hearing loss, sensorineural, autosomal-mitochondrial type	http://purl.obolibrary.org/obo/MONDO_0010779	mitochondrial non-syndromic sensorineural hearing loss		
http://purl.obolibrary.org/obo/MONDO_0007933	vitelliform macular dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0011979	adult-onset foveomacular vitelliform dystrophy		
http://purl.obolibrary.org/obo/MONDO_0957208	pituitary hormone deficiency, combined or isolated, 8	http://purl.obolibrary.org/obo/MONDO_0013099	combined pituitary hormone deficiencies, genetic form		
http://purl.obolibrary.org/obo/MONDO_0008131	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014720	autosomal dominant optic atrophy plus syndrome		
http://purl.obolibrary.org/obo/MONDO_0024569	optic atrophy 8	http://purl.obolibrary.org/obo/MONDO_0014720	autosomal dominant optic atrophy plus syndrome		
http://purl.obolibrary.org/obo/MONDO_0012406	hyperparathyroidism 3	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0014971	amelogenesis imperfecta, hypomaturation type, IIa6	http://purl.obolibrary.org/obo/MONDO_0015048	amelogenesis imperfecta type 2		
http://purl.obolibrary.org/obo/MONDO_0018599	congenital oculomotor nerve palsy	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0018600	congenital abducens nerve palsy	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0015007	spastic paraplegia, intellectual disability, nystagmus, and obesity	http://purl.obolibrary.org/obo/MONDO_0015087	autosomal dominant complex spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0007071	adrenocortical hypofunction, chronic primary congenital	http://purl.obolibrary.org/obo/MONDO_0015129	chronic primary adrenal insufficiency		
http://purl.obolibrary.org/obo/MONDO_0008731	familial adrenal hypoplasia with absent pituitary luteinizing hormone	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		
http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009679	arthrogryposis due to muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0012750	lethal arthrogryposis-anterior horn cell disease syndrome	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		
http://purl.obolibrary.org/obo/MONDO_0030281	arthrogryposis multiplex congenita 6	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		
http://purl.obolibrary.org/obo/MONDO_0025445	Wieacker-Wolff syndrome (spectrum)	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0100218	arthrogryposis multiplex congenita 5	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		
http://purl.obolibrary.org/obo/MONDO_0043143	microphthalmia microtia fetal akinesia	http://purl.obolibrary.org/obo/MONDO_0043009	hereditary lethal multiple congenital anomalies/dysmorphic syndrome		
http://purl.obolibrary.org/obo/MONDO_0000209	prenatal-onset spinal muscular atrophy with congenital bone fractures	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		
http://purl.obolibrary.org/obo/MONDO_0032778	arthrogryposis multiplex congenita 3, myogenic type	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		
http://purl.obolibrary.org/obo/MONDO_0032903	arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		
http://purl.obolibrary.org/obo/MONDO_0975826	arthrogryposis multiplex congenita 7, X-linked	http://purl.obolibrary.org/obo/MONDO_0015168	arthrogryposis multiplex congenita		
http://purl.obolibrary.org/obo/MONDO_0850072	non-syndromic unisutural craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015337	isolated craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0032836	Weiss-Kruszka syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0013615	craniosynostosis and dental anomalies	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0015086	cloverleaf skull-asphyxiating thoracic dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0015468	craniosynostosis-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0015338	syndromic craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0017237	hereditary sensorimotor neuropathy with hyperelastic skin	http://purl.obolibrary.org/obo/MONDO_0015358	hereditary motor and sensory neuropathy		
http://purl.obolibrary.org/obo/MONDO_0019551	hereditary motor and sensory neuropathy type 6	http://purl.obolibrary.org/obo/MONDO_0015358	hereditary motor and sensory neuropathy		
http://purl.obolibrary.org/obo/MONDO_0018776	demyelinating hereditary motor and sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0015352	distal hereditary motor neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0100350	neuronopathy, distal hereditary motor, type 5	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0976226	neuronopathy, distal hereditary motor, autosomal dominant 15	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0859300	neuronopathy, distal hereditary motor, autosomal dominant 10	http://purl.obolibrary.org/obo/MONDO_0015362	neuronopathy, distal hereditary motor, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0012049	orofaciodigital syndrome VII	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		
http://purl.obolibrary.org/obo/MONDO_0958230	orofaciodigital syndrome 20	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		
http://purl.obolibrary.org/obo/MONDO_0033045	orofaciodigital syndrome 16	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		
http://purl.obolibrary.org/obo/MONDO_0975827	orofaciodigital syndrome 21	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		
http://purl.obolibrary.org/obo/MONDO_0014932	orofaciodigital syndrome XV	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		
http://purl.obolibrary.org/obo/MONDO_0859310	orofaciodigital syndrome 19	http://purl.obolibrary.org/obo/MONDO_0015375	orofaciodigital syndrome		
http://purl.obolibrary.org/obo/MONDO_0020811	mitochondrial complex III deficiency, nuclear type	http://purl.obolibrary.org/obo/MONDO_0015448	mitochondrial complex III deficiency		
http://purl.obolibrary.org/obo/MONDO_0019662	short rib-polydactyly syndrome, Majewski type	http://purl.obolibrary.org/obo/MONDO_0015461	short rib-polydactyly syndrome		
http://purl.obolibrary.org/obo/MONDO_0011255	mandibulofacial dysostosis-macroblepharon-macrostomia syndrome	http://purl.obolibrary.org/obo/MONDO_0015483	mandibulofacial dysostosis		
http://purl.obolibrary.org/obo/MONDO_0014919	sessile serrated polyposis cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0015524	hyperplastic polyposis syndrome		
http://purl.obolibrary.org/obo/MONDO_0018804	MYO5B-related progressive familial intrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0030360	cholestasis, progressive familial intrahepatic, 6	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0031040	cholestasis, progressive familial intrahepatic, 12	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0030503	cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0030505	cholestasis, progressive familial intrahepatic, 8	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0975807	cholestasis, progressive familial intrahepatic, 13	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0030800	cholestasis, progressive familial intrahepatic, 9	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0030810	cholestasis, progressive familial intrahepatic, 10	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0030815	cholestasis, progressive familial intrahepatic, 11	http://purl.obolibrary.org/obo/MONDO_0015762	progressive familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0013982	ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015884	autosomal dominant hypohidrotic ectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0012720	Krabbe disease due to saposin A deficiency	http://purl.obolibrary.org/obo/MONDO_0100517	PSAP-related sphingolipidosis		
http://purl.obolibrary.org/obo/MONDO_0012725	lipoprotein glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0015905	syndromic dyslipidemia		
http://purl.obolibrary.org/obo/MONDO_0016596	hyperphosphatasia-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0017708	mevalonate kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0019240	sterol biosynthesis disorder		
http://purl.obolibrary.org/obo/MONDO_0800449	lysosomal acid lipase deficiency	http://purl.obolibrary.org/obo/MONDO_0019245	lysosomal lipid storage disorder		
http://purl.obolibrary.org/obo/MONDO_0033203	nephrotic syndrome 14	http://purl.obolibrary.org/obo/MONDO_0044765	steroid-resistant nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0013760	congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		
http://purl.obolibrary.org/obo/MONDO_0014832	intellectual disability, autosomal recessive 53	http://purl.obolibrary.org/obo/MONDO_0100598	autosomal recessive syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013928	dystonia 23	http://purl.obolibrary.org/obo/MONDO_0000477	focal dystonia		
http://purl.obolibrary.org/obo/MONDO_0100015	adult-onset segmental dystonia	http://purl.obolibrary.org/obo/MONDO_0000479	segmental dystonia		
http://purl.obolibrary.org/obo/MONDO_0010671	microphthalmia, syndromic 1	http://purl.obolibrary.org/obo/MONDO_0100124	NAA10-related syndrome		
http://purl.obolibrary.org/obo/MONDO_0010261	microphthalmia, syndromic 2	http://purl.obolibrary.org/obo/MONDO_0016073	syndromic microphthalmia		
http://purl.obolibrary.org/obo/MONDO_0022557	Behrens Baumann dust syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0011362	myopathy, myofibrillar, 9, with early respiratory failure	http://purl.obolibrary.org/obo/MONDO_0100494	autosomal dominant titinopathy		
http://purl.obolibrary.org/obo/MONDO_0019398	desmin-related myopathy with Mallory body-like inclusions	http://purl.obolibrary.org/obo/MONDO_0011271	rigid spine muscular dystrophy 1		
http://purl.obolibrary.org/obo/MONDO_0800339	laryngospasm, severe neonatal episodic	http://purl.obolibrary.org/obo/MONDO_0016120	myotonic syndrome		
http://purl.obolibrary.org/obo/MONDO_0008407	neurogenic scapuloperoneal syndrome, Kaeser type	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		
http://purl.obolibrary.org/obo/MONDO_0018889	hyaline body myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0012714	early-onset myopathy with fatal cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		
http://purl.obolibrary.org/obo/MONDO_0013968	PGM1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		
http://purl.obolibrary.org/obo/MONDO_0800367	cardiomyopathy, dilated, 1LL	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0957545	cardiomyopathy, dilated, 2I	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0971175	cardiomyopathy, dilated, 2K	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0979236	cardiomyopathy, dilated, 2l	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0979239	cardiomyopathy, dilated, 1QQ	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0979243	cardiomyopathy, dilated, 2M	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0859381	cardiomyopathy, dilated, 100	http://purl.obolibrary.org/obo/MONDO_0016333	familial dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0011895	idiopathic hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012306	cardiomyopathy, familial restrictive, 2	http://purl.obolibrary.org/obo/MONDO_0016340	familial restrictive cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0030330	cardiomyopathy, familial restrictive, 6	http://purl.obolibrary.org/obo/MONDO_0016340	familial restrictive cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0018018	wild type ATTR amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0016613	APC-related attenuated familial adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0021056	familial adenomatous polyposis 1		
http://purl.obolibrary.org/obo/MONDO_0016371	combined hyperactive dysfunction syndrome of the cranial nerves	http://purl.obolibrary.org/obo/MONDO_0016374	cranial neuralgia		
http://purl.obolibrary.org/obo/MONDO_0008261	hereditary sclerosing poikiloderma, Weary type	http://purl.obolibrary.org/obo/MONDO_0016382	hereditary poikiloderma		
http://purl.obolibrary.org/obo/MONDO_0859355	inflammatory poikiloderma with hair abnormalities and acral keratoses	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0020798	hypoparathyroidism, familial isolated, 2	http://purl.obolibrary.org/obo/MONDO_0016390	familial hypoparathyroidism		
http://purl.obolibrary.org/obo/MONDO_0016413	congenital hypothyroidism due to maternal intake of antithyroid drugs	http://purl.obolibrary.org/obo/MONDO_0016555	transient congenital hypothyroidism due to maternal factor		
http://purl.obolibrary.org/obo/MONDO_0032641	mirror movements 4	http://purl.obolibrary.org/obo/MONDO_0016558	familial congenital mirror movements		
http://purl.obolibrary.org/obo/MONDO_0015239	abnormal origin of the pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0016581	conotruncal heart malformations		
http://purl.obolibrary.org/obo/MONDO_0016077	congenital aortopulmonary window	http://purl.obolibrary.org/obo/MONDO_0016581	conotruncal heart malformations		
http://purl.obolibrary.org/obo/MONDO_0010547	X-linked progressive cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0016612	X-linked cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0010548	spinocerebellar ataxia, X-linked 2	http://purl.obolibrary.org/obo/MONDO_0016612	X-linked cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0010226	46,XY sex reversal 2	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0013410	46,XY sex reversal 6	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0014239	testicular anomalies with or without congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014480	46,XY sex reversal 9	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0014634	46,XY sex reversal 10	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0023148	fetal phenothiazine syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0008470	spondyloepiphyseal dysplasia with punctate corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0009139	dyssegmental dysplasia, Rolland-Desbuquois type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0009716	Richieri Costa-da Silva syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013228	spondylo-megaepiphyseal-metaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0014722	Roifman syndrome	http://purl.obolibrary.org/obo/MONDO_0100558	RNU4ATAC spectrum disorder		
http://purl.obolibrary.org/obo/MONDO_0018724	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0850099	MIR140-related spondyloepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0971093	MGP-related spondyloepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0979899	spondyloepiphyseal dysplasia, Holling type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0044312	immunoskeletal dysplasia with neurodevelopmental abnormalities	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0032721	spondyloepiphyseal dysplasia, kondo-fu type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0032835	spondyloepiphyseal dysplasia, nishimura type	http://purl.obolibrary.org/obo/MONDO_0016761	spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0014455	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0014748	progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014801	even-plus syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010151	tricarboxylic acid cycle, defect of	http://purl.obolibrary.org/obo/MONDO_0016790	tricarboxylic acid cycle disorder		
http://purl.obolibrary.org/obo/MONDO_0014804	sideroblastic anemia 3	http://purl.obolibrary.org/obo/MONDO_0016828	autosomal recessive sideroblastic anemia		
http://purl.obolibrary.org/obo/MONDO_0008785	sideroblastic anemia 2	http://purl.obolibrary.org/obo/MONDO_0016828	autosomal recessive sideroblastic anemia		
http://purl.obolibrary.org/obo/MONDO_0017283	DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion	http://purl.obolibrary.org/obo/MONDO_0018760	DeSanto-Shinawi syndrome		
http://purl.obolibrary.org/obo/MONDO_0011678	homozygous 11P15-p14 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016893	partial deletion of the short arm of chromosome 11		
http://purl.obolibrary.org/obo/MONDO_0014825	chromosome 11p13 deletion syndrome, distal	http://purl.obolibrary.org/obo/MONDO_0016893	partial deletion of the short arm of chromosome 11		
http://purl.obolibrary.org/obo/MONDO_0016477	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	http://purl.obolibrary.org/obo/MONDO_0007534	Beckwith-Wiedemann syndrome		
http://purl.obolibrary.org/obo/MONDO_0022752	chromosome 16p13.3 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0019188	Rubinstein-Taybi syndrome		
http://purl.obolibrary.org/obo/MONDO_0016860	familial adenomatous polyposis due to 5q22.2 microdeletion	http://purl.obolibrary.org/obo/MONDO_0021055	classic familial adenomatous polyposis		
http://purl.obolibrary.org/obo/MONDO_0018571	contractures-developmental delay-Pierre Robin syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0016656	7q31 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016906	partial deletion of the long arm of chromosome 7		
http://purl.obolibrary.org/obo/MONDO_0010852	chromosome 8Q12.1-q21.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016907	partial deletion of the long arm of chromosome 8		
http://purl.obolibrary.org/obo/MONDO_0014263	8q24.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		
http://purl.obolibrary.org/obo/MONDO_0008873	microcephalic osteodysplastic primordial dwarfism, type 3	http://purl.obolibrary.org/obo/MONDO_0000060	microcephalic osteodysplastic primordial dwarfism		
http://purl.obolibrary.org/obo/MONDO_0017077	myelocystocele	http://purl.obolibrary.org/obo/MONDO_0017069	spina bifida cystica		
http://purl.obolibrary.org/obo/MONDO_0013110	neurodegenerative syndrome due to cerebral folate transport deficiency	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0013456	constitutional megaloblastic anemia with severe neurologic disease	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		
http://purl.obolibrary.org/obo/MONDO_0971066	megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017313	disorder of folate metabolism and transport		
http://purl.obolibrary.org/obo/MONDO_0032705	neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0008276	generalized juvenile polyposis/juvenile polyposis coli	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		
http://purl.obolibrary.org/obo/MONDO_0012143	hereditary cryohydrocytosis with reduced stomatin	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0017737	intermediate severe Salla disease	http://purl.obolibrary.org/obo/MONDO_0019366	free sialic acid storage disease		
http://purl.obolibrary.org/obo/MONDO_0010027	free sialic acid storage disease, infantile form	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		
http://purl.obolibrary.org/obo/MONDO_0700284	carnitine palmitoyl transferase deficiency	http://purl.obolibrary.org/obo/MONDO_0017716	disorder of carnitine cycle and carnitine transport		
http://purl.obolibrary.org/obo/MONDO_0971138	progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		
http://purl.obolibrary.org/obo/MONDO_0010472	developmental and epileptic encephalopathy, 36	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0979317	ST3GAL3-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0017740	disorder of protein N-glycosylation		
http://purl.obolibrary.org/obo/MONDO_0976261	congenital disorder of glycosylation type 1EE with or without immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0017740	disorder of protein N-glycosylation		
http://purl.obolibrary.org/obo/MONDO_0014746	SLC39A8-CDG	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0017413	Reunion island Larsen syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017752	defect in V-ATPase	http://purl.obolibrary.org/obo/MONDO_0017749	disorder of multiple glycosylation		
http://purl.obolibrary.org/obo/MONDO_0017750	defect in conserved oligomeric Golgi complex	http://purl.obolibrary.org/obo/MONDO_0017749	disorder of multiple glycosylation		
http://purl.obolibrary.org/obo/MONDO_0014023	congenital muscular dystrophy with intellectual disability and severe epilepsy	http://purl.obolibrary.org/obo/MONDO_0018276	muscular dystrophy-dystroglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0014353	immunodeficiency 23	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0014647	developmental and epileptic encephalopathy, 50	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014789	CCDC115-CDG	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0014790	TMEM199-CDG	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0018477	bilirubin encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0011174	hyperzincemia with functional zinc depletion	http://purl.obolibrary.org/obo/MONDO_0017764	disorder of zinc metabolism		
http://purl.obolibrary.org/obo/MONDO_0044726	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0980749	apolipoprotein A-II deficiency	http://purl.obolibrary.org/obo/MONDO_0017773	hypoalphalipoproteinemia		
http://purl.obolibrary.org/obo/MONDO_0859290	familial apolipoprotein gene cluster deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0017773	hypoalphalipoproteinemia		
http://purl.obolibrary.org/obo/MONDO_0007812	ichthyosis, lamellar, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0017778	lamellar ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0011312	thyroid carcinoma, nonmedullary, with or without cell oxyphilia	http://purl.obolibrary.org/obo/MONDO_0017895	familial papillary or follicular thyroid carcinoma		
http://purl.obolibrary.org/obo/MONDO_0011653	thyroid cancer, nonmedullary, 3	http://purl.obolibrary.org/obo/MONDO_0017895	familial papillary or follicular thyroid carcinoma		
http://purl.obolibrary.org/obo/MONDO_0009947	glutathione synthetase deficiency with 5-oxoprolinuria	http://purl.obolibrary.org/obo/MONDO_0017909	inherited glutathione synthetase deficiency		
http://purl.obolibrary.org/obo/MONDO_0014912	autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0975955	autoinflammation, panniculitis, and dermatosis syndrome		
http://purl.obolibrary.org/obo/MONDO_0014472	periodic fever-infantile enterocolitis-autoinflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0017953	hereditary periodic fever syndrome		
http://purl.obolibrary.org/obo/MONDO_0030069	hyper-IgE recurrent infection syndrome 5, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018037	hyper-IgE syndrome		
http://purl.obolibrary.org/obo/MONDO_0030681	immunodeficiency 94 with autoinflammation and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0018037	hyper-IgE syndrome		
http://purl.obolibrary.org/obo/MONDO_0032796	hyper-IgE recurrent infection syndrome 4, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018037	hyper-IgE syndrome		
http://purl.obolibrary.org/obo/MONDO_0958115	autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		
http://purl.obolibrary.org/obo/MONDO_0958116	autosomal recessive combined immunodeficiency due to partial IL6ST deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0958117	autosomal dominant combined immunodeficiency due to partial IL6ST deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0958118	autosomal recessive combined immunodeficiency due to IL6R deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0958120	autosomal dominant combined immunodeficiency due to ERBIN deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0008026	autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	http://purl.obolibrary.org/obo/MONDO_0018190	autosomal dominant childhood-onset proximal spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0032660	spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018190	autosomal dominant childhood-onset proximal spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0014121	autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	http://purl.obolibrary.org/obo/MONDO_0018190	autosomal dominant childhood-onset proximal spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0011713	melanoma-pancreatic cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0018453	familial atypical multiple mole melanoma syndrome		
http://purl.obolibrary.org/obo/MONDO_0009440	ichthyosiform erythroderma, corneal involvement, and hearing loss	http://purl.obolibrary.org/obo/MONDO_0018781	KID syndrome		
http://purl.obolibrary.org/obo/MONDO_0011245	ichthyosis, hystrix-like, with hearing loss	http://purl.obolibrary.org/obo/MONDO_0018781	KID syndrome		
http://purl.obolibrary.org/obo/MONDO_0014757	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		
http://purl.obolibrary.org/obo/MONDO_0014837	thrombocytopenia 6	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0011721	distal myopathy with anterior tibial onset	http://purl.obolibrary.org/obo/MONDO_0016145	neuromuscular disease caused by qualitative or quantitative defects of dysferlin		
http://purl.obolibrary.org/obo/MONDO_0018371	nebulin-related early-onset distal myopathy	http://purl.obolibrary.org/obo/MONDO_0018949	distal myopathy		
http://purl.obolibrary.org/obo/MONDO_0975918	asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome	http://purl.obolibrary.org/obo/MONDO_0018949	distal myopathy		
http://purl.obolibrary.org/obo/MONDO_0024771	myopathy, distal, 7, adult-onset, X-linked	http://purl.obolibrary.org/obo/MONDO_0018949	distal myopathy		
http://purl.obolibrary.org/obo/MONDO_0008887	bronchiectasis with or without elevated sweat chloride 1	http://purl.obolibrary.org/obo/MONDO_0018956	idiopathic bronchiectasis		
http://purl.obolibrary.org/obo/MONDO_0957111	neurological muscular channelopathy due to a genetic sodium channel defect	http://purl.obolibrary.org/obo/MONDO_0019119	muscular channelopathy		
http://purl.obolibrary.org/obo/MONDO_0957112	neurological muscular channelopathy due to a genetic chloride channel defect	http://purl.obolibrary.org/obo/MONDO_0019119	muscular channelopathy		
http://purl.obolibrary.org/obo/MONDO_0957113	neurological muscular channelopathy due to a genetic calcium channel defect	http://purl.obolibrary.org/obo/MONDO_0019119	muscular channelopathy		
http://purl.obolibrary.org/obo/MONDO_0957114	neurological muscular channelopathy due to a genetic potassium channel defect	http://purl.obolibrary.org/obo/MONDO_0019119	muscular channelopathy		
http://purl.obolibrary.org/obo/MONDO_0008293	porokeratosis 3, disseminated superficial actinic type	http://purl.obolibrary.org/obo/MONDO_0019212	disseminated superficial actinic porokeratosis		
http://purl.obolibrary.org/obo/MONDO_0020636	Mendelian susceptibility to mycobacterial diseases due to a complete deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		
http://purl.obolibrary.org/obo/MONDO_0020637	Mendelian susceptibility to mycobacterial diseases due to a partial deficiency	http://purl.obolibrary.org/obo/MONDO_0019146	inherited susceptibility to mycobacterial diseases		
http://purl.obolibrary.org/obo/MONDO_0859317	pseudohypoaldosteronism, type IB2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0859318	pseudohypoaldosteronism, type IB3, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0010958	cardiac arrhythmia, ankyrin-B-related	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		
http://purl.obolibrary.org/obo/MONDO_0800323	long QT syndrome 4	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		
http://purl.obolibrary.org/obo/MONDO_0100316	long QT syndrome 1	http://purl.obolibrary.org/obo/MONDO_0019171	familial long QT syndrome		
http://purl.obolibrary.org/obo/MONDO_0032915	long QT syndrome 16	http://purl.obolibrary.org/obo/MONDO_0017990	catecholaminergic polymorphic ventricular tachycardia		
http://purl.obolibrary.org/obo/MONDO_0007135	nonsyndromic congenital nail disorder 6	http://purl.obolibrary.org/obo/MONDO_0019211	isolated congenital anonychia		
http://purl.obolibrary.org/obo/MONDO_0019577	anonychia-onychodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0019211	isolated congenital anonychia		
http://purl.obolibrary.org/obo/MONDO_0012857	porokeratosis 5, disseminated superficial actinic type	http://purl.obolibrary.org/obo/MONDO_0019212	disseminated superficial actinic porokeratosis		
http://purl.obolibrary.org/obo/MONDO_0012874	porokeratosis 6, disseminated superficial actinic type	http://purl.obolibrary.org/obo/MONDO_0019212	disseminated superficial actinic porokeratosis		
http://purl.obolibrary.org/obo/MONDO_0011900	porokeratosis 4, disseminated superficial actinic type	http://purl.obolibrary.org/obo/MONDO_0019212	disseminated superficial actinic porokeratosis		
http://purl.obolibrary.org/obo/MONDO_0013868	porokeratosis 7, multiple types	http://purl.obolibrary.org/obo/MONDO_0019212	disseminated superficial actinic porokeratosis		
http://purl.obolibrary.org/obo/MONDO_0014479	porokeratosis 8, disseminated superficial actinic type	http://purl.obolibrary.org/obo/MONDO_0019212	disseminated superficial actinic porokeratosis		
http://purl.obolibrary.org/obo/MONDO_0009346	histidinuria due to a renal tubular defect	http://purl.obolibrary.org/obo/MONDO_0009345	histidinemia		
http://purl.obolibrary.org/obo/MONDO_0012216	foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0044203	foveal hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0014559	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0008659	transcobalamin I deficiency	http://purl.obolibrary.org/obo/MONDO_0019220	inborn disorder of cobalamin metabolism and transport		
http://purl.obolibrary.org/obo/MONDO_0029144	extraoral halitosis due to methanethiol oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0014332	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	http://purl.obolibrary.org/obo/MONDO_0800153	urea cycle disorder or inherited hyperammonemia		
http://purl.obolibrary.org/obo/MONDO_0010498	MEND syndrome	http://purl.obolibrary.org/obo/MONDO_0019240	sterol biosynthesis disorder		
http://purl.obolibrary.org/obo/MONDO_0014793	microcephaly-congenital cataract-psoriasiform dermatitis syndrome	http://purl.obolibrary.org/obo/MONDO_0019240	sterol biosynthesis disorder		
http://purl.obolibrary.org/obo/MONDO_0979339	infantile neuronal ceroid lipofuscinosis 1	http://purl.obolibrary.org/obo/MONDO_0009744	neuronal ceroid lipofuscinosis 1		
http://purl.obolibrary.org/obo/MONDO_0979343	infantile neuronal ceroid lipofuscinosis 2	http://purl.obolibrary.org/obo/MONDO_0008769	neuronal ceroid lipofuscinosis 2		
http://purl.obolibrary.org/obo/MONDO_0014355	cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0013980	palmoplantar keratoderma, punctate type ib	http://purl.obolibrary.org/obo/MONDO_0019332	punctate palmoplantar keratoderma type 1		
http://purl.obolibrary.org/obo/MONDO_0016582	congenital mitral malformation	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		
http://purl.obolibrary.org/obo/MONDO_0800321	congenital heart defects, multiple types, 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		
http://purl.obolibrary.org/obo/MONDO_0019820	univentricular cardiopathy	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		
http://purl.obolibrary.org/obo/MONDO_0022357	congenital acardia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries	http://purl.obolibrary.org/obo/MONDO_0019512	congenital heart malformation		
http://purl.obolibrary.org/obo/MONDO_0958335	cutis laxa, autosomal recessive, type 1d	http://purl.obolibrary.org/obo/MONDO_0019572	autosomal recessive cutis laxa type 1		
http://purl.obolibrary.org/obo/MONDO_0011770	aortic aneurysm, familial thoracic 2	http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection		
http://purl.obolibrary.org/obo/MONDO_0013418	aortic aneurysm, familial thoracic 7	http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection		
http://purl.obolibrary.org/obo/MONDO_0024559	aortic aneurysm, familial thoracic 1	http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection		
http://purl.obolibrary.org/obo/MONDO_0030731	aortic aneurysm, familial thoracic 12	http://purl.obolibrary.org/obo/MONDO_0019625	familial thoracic aortic aneurysm and aortic dissection		
http://purl.obolibrary.org/obo/MONDO_0010815	spondyloepiphyseal dysplasia tarda with characteristic facies	http://purl.obolibrary.org/obo/MONDO_0019667	spondyloepiphyseal dysplasia tarda		
http://purl.obolibrary.org/obo/MONDO_0012219	spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type	http://purl.obolibrary.org/obo/MONDO_0019667	spondyloepiphyseal dysplasia tarda		
http://purl.obolibrary.org/obo/MONDO_0011187	polydactyly, postaxial, type A2	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0011813	polydactyly, postaxial, type A3	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0012059	polydactyly, postaxial, type A4	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0009893	polydactyly, postaxial, type A5	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0017531	postaxial polydactyly type A, unilateral	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0017532	postaxial polydactyly type A, bilateral	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0014090	polydactyly, postaxial, type A6	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0029130	polydactyly, postaxial, type A8	http://purl.obolibrary.org/obo/MONDO_0019673	postaxial polydactyly type A		
http://purl.obolibrary.org/obo/MONDO_0010116	thoracomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		
http://purl.obolibrary.org/obo/MONDO_0800356	short-rib thoracic dysplasia 7/20 with polydactyly, digenic	http://purl.obolibrary.org/obo/MONDO_0019691	short rib dysplasia		
http://purl.obolibrary.org/obo/MONDO_0007895	platyspondylic dysplasia, Torrance type	http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy		
http://purl.obolibrary.org/obo/MONDO_0033682	skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0015708	immuno-osseous dysplasia		
http://purl.obolibrary.org/obo/MONDO_0009416	hypoinsulinemic hypoglycemia and body hemihypertrophy	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0018445	global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0018710	megalencephaly-severe kyphoscoliosis-overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0014863	macrocephaly, dysmorphic facies, and psychomotor retardation		
http://purl.obolibrary.org/obo/MONDO_0971047	PRC-2 complex-related overgrowth spectrum	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0015109	congenital anomaly of the mitral subvalvular apparatus	http://purl.obolibrary.org/obo/MONDO_0003767	mitral valve disorder		
http://purl.obolibrary.org/obo/MONDO_0016614	autosomal recessive ataxia due to PEX10 deficiency	http://purl.obolibrary.org/obo/MONDO_0020044	autosomal recessive metabolic cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0013572	Keppen-Lubinsky syndrome	http://purl.obolibrary.org/obo/MONDO_0020087	hereditary lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0014402	severe neurodegenerative syndrome with lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0015493	lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0020087	hereditary lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0018358	neonatal autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0018356	secondary neonatal autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0010235	X-linked intellectual disability-psychosis-macroorchidism syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010286	syndromic X-linked intellectual disability Siderius type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010325	X-linked intellectual disability, Stocco dos Santos type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010355	syndromic X-linked intellectual disability Claes-Jensen type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010670	X-linked intellectual disability-spastic quadriparesis syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010250	intellectual disability, X-linked 49	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010512	intellectual disability, X-linked, syndromic, Bain type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0016160	X-linked intellectual disability-epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0015653	monogenic epilepsy		
http://purl.obolibrary.org/obo/MONDO_0017616	X-linked intellectual disability, Schutz type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0018709	X-linked intellectual disability-hypotonia-movement disorder syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0019032	X-linked intellectual disability with isolated growth hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0958322	intellectual developmental disorder, X-linked, syndromic 37	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0024772	intellectual developmental disorder, X-linked, syndromic, Pilorge type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030908	intellectual disability, X-linked, syndromic, 35	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030909	intellectual disability, X-linked, syndromic, Houge type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0026724	Paganini-Miozzo syndrome	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0026733	intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0859080	intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	http://purl.obolibrary.org/obo/MONDO_0020119	X-linked syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0015994	muscular dystrophy-white matter spongiosis syndrome	http://purl.obolibrary.org/obo/MONDO_0020120	skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0016610	idiopathic eosinophilic myositis	http://purl.obolibrary.org/obo/MONDO_0020122	acquired idiopathic inflammatory myopathy		
http://purl.obolibrary.org/obo/MONDO_0017106	retrocerebellar cyst	http://purl.obolibrary.org/obo/MONDO_0020134	cystic malformation of the posterior fossa		
http://purl.obolibrary.org/obo/MONDO_0030258	pontocerebellar hypoplasia, type 14	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0030259	pontocerebellar hypoplasia, type 15	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0030260	pontocerebellar hypoplasia, type 1E	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0030261	pontocerebellar hypoplasia, type 1F	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0030438	pontocerebellar hypoplasia, type 16	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0030890	pontocerebellar hypoplasia, IIA 17	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0054844	pontocerebellar hypoplasia, type 1D	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0032643	pontocerebellar hypoplasia, type 12	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0032831	pontocerebellar hypoplasia, type 13	http://purl.obolibrary.org/obo/MONDO_0020135	pontocerebellar hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0008133	optic atrophy 3	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0012543	optic atrophy 5	http://purl.obolibrary.org/obo/MONDO_0020250	autosomal dominant optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0014285	congenital dyserythropoietic anemia type type 1B	http://purl.obolibrary.org/obo/MONDO_0020337	congenital dyserythropoietic anemia type 1		
http://purl.obolibrary.org/obo/MONDO_0008132	optic atrophy with demyelinating disease of CNS	http://purl.obolibrary.org/obo/MONDO_0020478	Leber plus disease		
http://purl.obolibrary.org/obo/MONDO_0010772	Leber optic atrophy and dystonia	http://purl.obolibrary.org/obo/MONDO_0010788	Leber hereditary optic neuropathy		
http://purl.obolibrary.org/obo/MONDO_0008525	syringomyelia, isolated	http://purl.obolibrary.org/obo/MONDO_0020508	primary syringomyelia		
http://purl.obolibrary.org/obo/MONDO_0041755	twin reversal arterial perfusion syndrome	http://purl.obolibrary.org/obo/MONDO_0019805	twin to twin transfusion syndrome		
http://purl.obolibrary.org/obo/MONDO_0958097	primary superior vena cava aneurysm	http://purl.obolibrary.org/obo/MONDO_0019829	congenital anomaly of superior vena cava		
http://purl.obolibrary.org/obo/MONDO_0958098	primary inferior vena cava aneurysm	http://purl.obolibrary.org/obo/MONDO_0019830	congenital anomaly of the inferior vena cava		
http://purl.obolibrary.org/obo/MONDO_0022758	chromosome 22, monosome mosaic	http://purl.obolibrary.org/obo/MONDO_0019891	monosomy 22		
http://purl.obolibrary.org/obo/MONDO_0021957	autosomal recessive nonsyndromic congenital nuclear cataract	http://purl.obolibrary.org/obo/MONDO_0020376	early-onset nuclear cataract		
http://purl.obolibrary.org/obo/MONDO_0012202	malaria, mild, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0021024	malaria, susceptibility to		
http://purl.obolibrary.org/obo/NCBITaxon_103829	Thelazioidea	http://purl.obolibrary.org/obo/NCBITaxon_2072716	Spiruromorpha		
http://purl.obolibrary.org/obo/NCBITaxon_6295	Filarioidea	http://purl.obolibrary.org/obo/NCBITaxon_2072716	Spiruromorpha		
http://purl.obolibrary.org/obo/MONDO_0021948	cutaneous tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000368	extrapulmonary tuberculosis		
http://purl.obolibrary.org/obo/MONDO_0023209	galactorrhoea-hyperprolactinaemia	http://purl.obolibrary.org/obo/MONDO_0009256	galactorrhea		
http://purl.obolibrary.org/obo/MONDO_0024620	meningitis caused by poliovirus	http://purl.obolibrary.org/obo/MONDO_0024618	poliovirus infection		
http://purl.obolibrary.org/obo/HP_0002113	Pulmonary infiltrates	http://purl.obolibrary.org/obo/HP_0031983	Abnormal pulmonary thoracic imaging finding		
http://purl.obolibrary.org/obo/MONDO_7770217	lameness, goat	http://purl.obolibrary.org/obo/MONDO_0024953	lameness, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770257	lameness, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770544	lameness, zebu cattle	http://purl.obolibrary.org/obo/MONDO_0024953	lameness, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0958150	Borrelia miyamotoi disease	http://purl.obolibrary.org/obo/MONDO_0006681	Borrelia infectious disease		
http://purl.obolibrary.org/obo/MONDO_1012448	mammary tumor, dog	http://purl.obolibrary.org/obo/MONDO_0700139	canine neoplasm		
http://purl.obolibrary.org/obo/MONDO_0022471	childhood aortic valve stenosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017735	congenital aortic valve stenosis	http://purl.obolibrary.org/obo/MONDO_0042981	aortic valve stenosis		
http://purl.obolibrary.org/obo/MONDO_0013607	monocytopenia with susceptibility to infections	http://purl.obolibrary.org/obo/MONDO_0042982	GATA2 deficiency with susceptibility to MDS/AML		
http://purl.obolibrary.org/obo/MONDO_0024459	Aeromonas hydrophila intestinal disease	http://purl.obolibrary.org/obo/MONDO_0005117	Aeromonas hydrophila infectious disease		
http://purl.obolibrary.org/obo/MONDO_0012255	chromosome 18 pericentric inversion	http://purl.obolibrary.org/obo/MONDO_0700125	chromosome 18 disorder		
http://purl.obolibrary.org/obo/MONDO_0014362	chromosome 16 inversion, 0.45-Mb	http://purl.obolibrary.org/obo/MONDO_0700023	chromosome 16 disorder		
http://purl.obolibrary.org/obo/MONDO_0033839	osteoradionecrosis of the mandible	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		
http://purl.obolibrary.org/obo/MONDO_0012910	age-related hearing impairment 1	http://purl.obolibrary.org/obo/MONDO_0037940	inherited auditory system disease		
http://purl.obolibrary.org/obo/MONDO_0013068	age-related hearing impairment 2	http://purl.obolibrary.org/obo/MONDO_0037940	inherited auditory system disease		
http://purl.obolibrary.org/obo/MONDO_0958151	cepacia syndrome	http://purl.obolibrary.org/obo/MONDO_0000316	opportunistic bacterial infectious disease		
http://purl.obolibrary.org/obo/MONDO_0009202	Thakker-Donnai syndrome	http://purl.obolibrary.org/obo/MONDO_0043009	hereditary lethal multiple congenital anomalies/dysmorphic syndrome		
http://purl.obolibrary.org/obo/MONDO_0009359	multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0013050	lethal polymalformative syndrome, Boissel type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0100352	episodic kinesigenic dyskinesia 1	http://purl.obolibrary.org/obo/MONDO_0100556	PRRT2-associated paroxysmal movement disorder		
http://purl.obolibrary.org/obo/MONDO_0859380	episodic kinesigenic dyskinesia 3	http://purl.obolibrary.org/obo/MONDO_0044202	episodic kinesigenic dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0957385	dystonia 37, early-onset, with striatal lesions	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		
http://purl.obolibrary.org/obo/MONDO_0957539	dystonia 22, juvenile-onset	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		
http://purl.obolibrary.org/obo/MONDO_0957542	dystonia 22, adult-onset	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		
http://purl.obolibrary.org/obo/MONDO_0025691	dystonia 30	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		
http://purl.obolibrary.org/obo/MONDO_0030958	dystonia 35, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		
http://purl.obolibrary.org/obo/MONDO_0030455	dystonia 31	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		
http://purl.obolibrary.org/obo/MONDO_0030486	dystonia 32	http://purl.obolibrary.org/obo/MONDO_0100617	VPS11-related neurological disorder		
http://purl.obolibrary.org/obo/MONDO_0030513	dystonia 33	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		
http://purl.obolibrary.org/obo/MONDO_0030538	dystonia 34, myoclonic	http://purl.obolibrary.org/obo/MONDO_0044807	inherited dystonia		
http://purl.obolibrary.org/obo/MONDO_0014889	striatonigral degeneration, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0003122	striatonigral degeneration		
http://purl.obolibrary.org/obo/MONDO_0015003	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0017713	disorder of fatty acid oxidation and ketogenesis	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0024651	corticosteroid-induced osteoporosis	http://purl.obolibrary.org/obo/MONDO_0024650	drug-induced osteoporosis		
http://purl.obolibrary.org/obo/MONDO_0041448	metastasis from malignant tumor of colon	http://purl.obolibrary.org/obo/MONDO_0021063	malignant colon neoplasm		
http://purl.obolibrary.org/obo/MONDO_0009646	monosomy 7 myelodysplasia and leukemia syndrome 1	http://purl.obolibrary.org/obo/MONDO_0044645	familial monosomy 7 syndrome		
http://purl.obolibrary.org/obo/MONDO_0030801	monosomy 7 myelodysplasia and leukemia syndrome 2	http://purl.obolibrary.org/obo/MONDO_0044645	familial monosomy 7 syndrome		
http://purl.obolibrary.org/obo/MONDO_0971049	single isolated optic neuritis	http://purl.obolibrary.org/obo/MONDO_0044688	isolated optic neuritis		
http://purl.obolibrary.org/obo/MONDO_0971050	relapsing isolated optic neuritis	http://purl.obolibrary.org/obo/MONDO_0044688	isolated optic neuritis		
http://purl.obolibrary.org/obo/MONDO_0035667	isolated optic neuritis without anti-MOG antibodies	http://purl.obolibrary.org/obo/MONDO_0044688	isolated optic neuritis		
http://purl.obolibrary.org/obo/MONDO_0700245	epidermolytic hyperkeratosis 2B, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0958184	epidermolytic hyperkeratosis 2		
http://purl.obolibrary.org/obo/HP_0031690	Opportunistic infection	http://purl.obolibrary.org/obo/HP_0032101	Unusual infection		
http://purl.obolibrary.org/obo/MONDO_0020775	congenital disorder of glycosylation with defective fucosylation 1	http://purl.obolibrary.org/obo/MONDO_0060720	congenital disorder of glycosylation with defective fucosylation		
http://purl.obolibrary.org/obo/MONDO_0020777	congenital disorder of glycosylation with defective fucosylation 2	http://purl.obolibrary.org/obo/MONDO_0060720	congenital disorder of glycosylation with defective fucosylation		
http://purl.obolibrary.org/obo/NCBITaxon_2585030	unclassified Riboviria	http://purl.obolibrary.org/obo/NCBITaxon_2559587	Riboviria		
http://purl.obolibrary.org/obo/NCBITaxon_35325	dsRNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_2559587	Riboviria		
http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae	http://purl.obolibrary.org/obo/NCBITaxon_2559587	Riboviria		
http://purl.obolibrary.org/obo/NCBITaxon_2732397	Pararnavirae	http://purl.obolibrary.org/obo/NCBITaxon_2559587	Riboviria		
http://purl.obolibrary.org/obo/NCBITaxon_216285	Trochoidea <superfamily>	http://purl.obolibrary.org/obo/NCBITaxon_2315720	Trochida		
http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea	http://purl.obolibrary.org/obo/NCBITaxon_2301119	Rhabditomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_55879	Rhabditoidea	http://purl.obolibrary.org/obo/NCBITaxon_2301119	Rhabditomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_9322	Macropus sp.	http://purl.obolibrary.org/obo/NCBITaxon_2649300	unclassified Macropus		
http://purl.obolibrary.org/obo/HP_0000092	Renal tubular atrophy	http://purl.obolibrary.org/obo/HP_0032599	Abnormal renal tubular epithelial morphology		
http://purl.obolibrary.org/obo/NCBITaxon_29178	Foraminifera	http://purl.obolibrary.org/obo/NCBITaxon_2662056	Retaria		
http://purl.obolibrary.org/obo/NCBITaxon_5719	Parabasalia	http://purl.obolibrary.org/obo/NCBITaxon_2611341	Metamonada		
http://purl.obolibrary.org/obo/MONDO_0980937	oculopharyngodistal myopathy 5	http://purl.obolibrary.org/obo/MONDO_0025193	oculopharyngodistal myopathy		
http://purl.obolibrary.org/obo/MONDO_0023671	oculopharyngodistal myopathy 3	http://purl.obolibrary.org/obo/MONDO_0025193	oculopharyngodistal myopathy		
http://purl.obolibrary.org/obo/MONDO_0030134	oculopharyngodistal myopathy 2	http://purl.obolibrary.org/obo/MONDO_0025193	oculopharyngodistal myopathy		
http://purl.obolibrary.org/obo/MONDO_0030712	oculopharyngodistal myopathy 4	http://purl.obolibrary.org/obo/MONDO_0025193	oculopharyngodistal myopathy		
http://purl.obolibrary.org/obo/MONDO_0020793	oculopharyngodistal myopathy 1	http://purl.obolibrary.org/obo/MONDO_0025193	oculopharyngodistal myopathy		
http://purl.obolibrary.org/obo/MONDO_0030087	diabetes mellitus, permanent neonatal 2	http://purl.obolibrary.org/obo/MONDO_0100164	permanent neonatal diabetes mellitus		
http://purl.obolibrary.org/obo/MONDO_0030088	diabetes mellitus, permanent neonatal 3	http://purl.obolibrary.org/obo/MONDO_0100164	permanent neonatal diabetes mellitus		
http://purl.obolibrary.org/obo/MONDO_0030089	diabetes mellitus, permanent neonatal 4	http://purl.obolibrary.org/obo/MONDO_0100164	permanent neonatal diabetes mellitus		
http://purl.obolibrary.org/obo/HP_0003826	Stillbirth	http://purl.obolibrary.org/obo/HP_0034241	Prenatal death		
http://purl.obolibrary.org/obo/HP_0005268	Miscarriage	http://purl.obolibrary.org/obo/HP_0034241	Prenatal death		
http://purl.obolibrary.org/obo/UBERON_0002148	locus ceruleus	http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0002528	sacral lymph node	http://purl.obolibrary.org/obo/UBERON_0005179	pelvic region element		
http://purl.obolibrary.org/obo/NCBITaxon_10911	Coltivirus	http://purl.obolibrary.org/obo/NCBITaxon_2946187	Spinareoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_12103	Cardiovirus	http://purl.obolibrary.org/obo/NCBITaxon_2946627	Caphthovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2960224	unclassified Ensavirinae	http://purl.obolibrary.org/obo/NCBITaxon_2946630	Ensavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_12091	Hepatovirus	http://purl.obolibrary.org/obo/NCBITaxon_2946633	Heptrevirinae		
http://purl.obolibrary.org/obo/NCBITaxon_1809	Mycobacterium ulcerans	http://purl.obolibrary.org/obo/NCBITaxon_2993898	Mycobacterium ulcerans group		
http://purl.obolibrary.org/obo/NCBITaxon_1781	Mycobacterium marinum	http://purl.obolibrary.org/obo/NCBITaxon_2993898	Mycobacterium ulcerans group		
http://purl.obolibrary.org/obo/NCBITaxon_6760	Scylla	http://purl.obolibrary.org/obo/NCBITaxon_600346	Portuninae		
http://purl.obolibrary.org/obo/NCBITaxon_2104	Mycoplasmoides pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_2995234	Mycoplasmoides		
http://purl.obolibrary.org/obo/MONDO_0020722	nephrolithiasis susceptibility caused by SLC26A1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0978293	Houge-Janssens syndrome 4	http://purl.obolibrary.org/obo/MONDO_0957553	Houge-Janssens syndrome		
http://purl.obolibrary.org/obo/MONDO_0032697	Houge-Janssens syndrome 3	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0014605	Houge-Janssens syndrome 2	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0700248	epidermolytic hyperkeratosis 2A, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020702	autosomal dominant epidermolytic ichthyosis		
http://purl.obolibrary.org/obo/ENVO_01001827	climactic ecological succession	http://purl.obolibrary.org/obo/ENVO_01001824	ecological succession		
http://purl.obolibrary.org/obo/ENVO_01000219	anthropogenic terrestrial biome	http://purl.obolibrary.org/obo/ENVO_00000446	terrestrial biome		
http://purl.obolibrary.org/obo/GO_0032774	RNA biosynthetic process	http://purl.obolibrary.org/obo/GO_0016070	RNA metabolic process		
http://purl.obolibrary.org/obo/CL_0000525	syncytiotrophoblast cell	http://purl.obolibrary.org/obo/CL_0000351	trophoblast cell		
http://purl.obolibrary.org/obo/CL_0002372	myotube	http://purl.obolibrary.org/obo/CL_0000737	striated muscle cell		
http://purl.obolibrary.org/obo/MONDO_0034021	spondylodysplastic Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		
http://purl.obolibrary.org/obo/MONDO_0034092	optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		
http://purl.obolibrary.org/obo/HP_0001251	Ataxia	http://purl.obolibrary.org/obo/HP_0011443	Abnormality of coordination		
http://purl.obolibrary.org/obo/UBERON_0016410	male breast	http://purl.obolibrary.org/obo/UBERON_0000310	breast		
http://purl.obolibrary.org/obo/NCBITaxon_34619	Dermacentor	http://purl.obolibrary.org/obo/NCBITaxon_426437	Rhipicephalinae		
http://purl.obolibrary.org/obo/NCBITaxon_34630	Rhipicephalus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_426437	Rhipicephalinae		
http://purl.obolibrary.org/obo/NBO_0000266	cognitive behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000243	behavioral phenotype		
http://purl.obolibrary.org/obo/PATO_0040019	fibrotic	http://purl.obolibrary.org/obo/PATO_0000025	composition		
http://purl.obolibrary.org/obo/PATO_0040060	absence of anatomical entity	http://purl.obolibrary.org/obo/PATO_0040058	absence of physical object		
http://purl.obolibrary.org/obo/PATO_0040048	erythematous	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0010006	cell morphology	http://purl.obolibrary.org/obo/PATO_0000051	morphology		
http://purl.obolibrary.org/obo/PATO_0001793	right side of	http://purl.obolibrary.org/obo/PATO_0000140	position		
http://purl.obolibrary.org/obo/PATO_0050000	rate of occurence	http://purl.obolibrary.org/obo/PATO_0000161	rate		
http://purl.obolibrary.org/obo/PATO_0055004	decreased rate of occurrence	http://purl.obolibrary.org/obo/PATO_0050000	rate of occurence		
http://purl.obolibrary.org/obo/PATO_0055003	increased rate of occurrence	http://purl.obolibrary.org/obo/PATO_0050000	rate of occurence		
http://purl.obolibrary.org/obo/PATO_0015024	increased porosity	http://purl.obolibrary.org/obo/PATO_0002305	increased object quality		
http://purl.obolibrary.org/obo/PATO_0015025	decreased porosity	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0000125	mass	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0000146	temperature	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001025	pressure	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/ENVO_01000203	environmental condition	http://purl.obolibrary.org/obo/PATO_0001018	physical quality		
http://purl.obolibrary.org/obo/PATO_0001167	damaged	http://purl.obolibrary.org/obo/PATO_0001020	damage		
http://purl.obolibrary.org/obo/PATO_0001995	organismal quality	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/PATO_0040058	absence of physical object	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/ENVO_01001164	geodiversity	http://purl.obolibrary.org/obo/PATO_0001241	physical object quality		
http://purl.obolibrary.org/obo/PATO_0001375	haploid	http://purl.obolibrary.org/obo/PATO_0001393	euploid		
http://purl.obolibrary.org/obo/PATO_0001377	polyploid	http://purl.obolibrary.org/obo/PATO_0001393	euploid		
http://purl.obolibrary.org/obo/PATO_0001394	diploid	http://purl.obolibrary.org/obo/PATO_0001393	euploid		
http://purl.obolibrary.org/obo/PATO_0010007	multiciliated	http://purl.obolibrary.org/obo/PATO_0001408	ciliated		
http://purl.obolibrary.org/obo/PATO_0040042	decreased ratio	http://purl.obolibrary.org/obo/PATO_0002303	decreased object quality		
http://purl.obolibrary.org/obo/PATO_0000122	length	http://purl.obolibrary.org/obo/PATO_0001708	1-D extent		
http://purl.obolibrary.org/obo/PATO_0000918	volume	http://purl.obolibrary.org/obo/PATO_0001710	3-D extent		
http://purl.obolibrary.org/obo/PATO_0001546	quality of a solid	http://purl.obolibrary.org/obo/PATO_0002198	quality of a substance		
http://purl.obolibrary.org/obo/PATO_0001547	quality of a gas	http://purl.obolibrary.org/obo/PATO_0002198	quality of a substance		
http://purl.obolibrary.org/obo/PATO_0001548	quality of a liquid	http://purl.obolibrary.org/obo/PATO_0002198	quality of a substance		
http://purl.obolibrary.org/obo/PATO_0070060	quality of interaction of a substance with electromagnetic radiation	http://purl.obolibrary.org/obo/PATO_0002198	quality of a substance		
http://purl.obolibrary.org/obo/NBO_0002519	adipsia	http://purl.obolibrary.org/obo/NBO_0000993	decreased frequency of drinking		
http://purl.obolibrary.org/obo/NCBITaxon_38626	Phascolarctos cinereus	http://purl.obolibrary.org/obo/NCBITaxon_38625	Phascolarctos		
http://purl.obolibrary.org/obo/NCBITaxon_9782	Elephas	http://purl.obolibrary.org/obo/NCBITaxon_9780	Elephantidae		
http://purl.obolibrary.org/obo/UBERON_0019198	dorsal nerve of clitoris	http://purl.obolibrary.org/obo/UBERON_0003444	pelvis nerve		
http://purl.obolibrary.org/obo/NCIT_C15492	Estrogen Receptor Positive	http://purl.obolibrary.org/obo/NCIT_C16150	Estrogen Receptor Status		
http://purl.obolibrary.org/obo/NCIT_C15496	Progesterone Receptor Positive	http://purl.obolibrary.org/obo/NCIT_C16149	Progesterone Receptor Status		
http://purl.obolibrary.org/obo/NCIT_C12919	Organ System	http://purl.obolibrary.org/obo/NCIT_C12219	Anatomic Structure, System, or Substance		
http://purl.obolibrary.org/obo/NCIT_C25444	Body Cavity	http://purl.obolibrary.org/obo/NCIT_C12219	Anatomic Structure, System, or Substance		
http://purl.obolibrary.org/obo/NCIT_C12922	Neoplastic Cell	http://purl.obolibrary.org/obo/NCIT_C12913	Abnormal Cell		
http://purl.obolibrary.org/obo/NCIT_C36745	Abnormal Epithelial Cell	http://purl.obolibrary.org/obo/NCIT_C12913	Abnormal Cell		
http://purl.obolibrary.org/obo/NCIT_C36843	Abnormal Connective and Soft Tissue Cell	http://purl.obolibrary.org/obo/NCIT_C12913	Abnormal Cell		
http://purl.obolibrary.org/obo/NCIT_C49163	Surgical Procedure by Site or System	http://purl.obolibrary.org/obo/NCIT_C15329	Surgical Procedure		
http://purl.obolibrary.org/obo/NCIT_C16956	Pathologic Process	http://purl.obolibrary.org/obo/NCIT_C17828	Biological Process		
http://purl.obolibrary.org/obo/NCIT_C16326	Behavior	http://purl.obolibrary.org/obo/NCIT_C43431	Activity		
http://purl.obolibrary.org/obo/NCIT_C16203	Clinical or Research Activity	http://purl.obolibrary.org/obo/NCIT_C43431	Activity		
http://purl.obolibrary.org/obo/NCIT_C3367	Finding	http://purl.obolibrary.org/obo/NCIT_C7057	Disease, Disorder or Finding		
http://purl.obolibrary.org/obo/NCIT_C16152	HER2/Neu Status	http://purl.obolibrary.org/obo/NCIT_C94299	Receptor Status		
http://purl.obolibrary.org/obo/NCIT_C188928	Hormone Receptor Status	http://purl.obolibrary.org/obo/NCIT_C94299	Receptor Status		
http://purl.obolibrary.org/obo/NCIT_C36779	Malignant Epithelial Cell	http://purl.obolibrary.org/obo/NCIT_C36807	Dysplastic Epithelial Cell		
http://purl.obolibrary.org/obo/NCIT_C52005	Enterostomy	http://purl.obolibrary.org/obo/NCIT_C15290	Ostomy		
http://purl.obolibrary.org/obo/NCIT_C15290	Ostomy	http://purl.obolibrary.org/obo/NCIT_C49165	Surgical Procedure by Method		
http://purl.obolibrary.org/obo/HP_0410373	Abnormal naive CD4+ T cell proportion	http://purl.obolibrary.org/obo/HP_0031396	Abnormal naive T cell proportion		
http://purl.obolibrary.org/obo/HP_0005415	Decreased CD8+ T cell proportion	http://purl.obolibrary.org/obo/HP_0031393	Abnormal CD8+ T cell proportion		
http://purl.obolibrary.org/obo/HP_0005372	Abnormal B cell physiology	http://purl.obolibrary.org/obo/HP_0031409	Abnormal lymphocyte physiology		
http://purl.obolibrary.org/obo/HP_0011840	Abnormal T cell physiology	http://purl.obolibrary.org/obo/HP_0031409	Abnormal lymphocyte physiology		
http://purl.obolibrary.org/obo/HP_0012177	Abnormal natural killer cell physiology	http://purl.obolibrary.org/obo/HP_0031409	Abnormal lymphocyte physiology		
http://purl.obolibrary.org/obo/HP_0000155	Oral ulcer	http://purl.obolibrary.org/obo/HP_0031446	Erosion of oral mucosa		
http://purl.obolibrary.org/obo/HP_0011107	Recurrent aphthous stomatitis	http://purl.obolibrary.org/obo/HP_0010280	Stomatitis		
http://purl.obolibrary.org/obo/HP_0032154	Aphthous ulcer	http://purl.obolibrary.org/obo/HP_0031446	Erosion of oral mucosa		
http://purl.obolibrary.org/obo/HP_0000737	Irritability	http://purl.obolibrary.org/obo/HP_0031467	Dysregulated negative emotional state		
http://purl.obolibrary.org/obo/HP_0001394	Cirrhosis	http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology		
http://purl.obolibrary.org/obo/HP_0001395	Hepatic fibrosis	http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology		
http://purl.obolibrary.org/obo/HP_0002240	Hepatomegaly	http://purl.obolibrary.org/obo/HP_0003271	Visceromegaly		
http://purl.obolibrary.org/obo/HP_0002605	Hepatic necrosis	http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology		
http://purl.obolibrary.org/obo/HP_0006707	Abnormality of the hepatic vasculature	http://purl.obolibrary.org/obo/HP_0002597	Abnormality of the vasculature		
http://purl.obolibrary.org/obo/HP_0005237	Degenerative liver disease	http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology		
http://purl.obolibrary.org/obo/HP_0006559	Hepatic calcification	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0012115	Hepatitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0030146	Abnormal liver parenchyma morphology	http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology		
http://purl.obolibrary.org/obo/HP_0030722	Ectopic liver	http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology		
http://purl.obolibrary.org/obo/HP_0410259	Hepatopulmonary fusion	http://purl.obolibrary.org/obo/HP_0410042	Abnormal liver morphology		
http://purl.obolibrary.org/obo/GO_0097734	extracellular exosome biogenesis	http://purl.obolibrary.org/obo/GO_0140112	extracellular vesicle biogenesis		
http://purl.obolibrary.org/obo/MONDO_0700096	human disease	http://purl.obolibrary.org/obo/MONDO_0000001	disease		
http://purl.obolibrary.org/obo/MONDO_0020720	X-linked hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0000425	X-linked disease		
http://purl.obolibrary.org/obo/MONDO_0008250	isolated growth hormone deficiency type II	http://purl.obolibrary.org/obo/MONDO_0000050	isolated congenital growth hormone deficiency		
http://purl.obolibrary.org/obo/MONDO_0010615	isolated growth hormone deficiency type III	http://purl.obolibrary.org/obo/MONDO_0000050	isolated congenital growth hormone deficiency		
http://purl.obolibrary.org/obo/MONDO_0032567	isolated growth hormone deficiency, type 4	http://purl.obolibrary.org/obo/MONDO_0000050	isolated congenital growth hormone deficiency		
http://purl.obolibrary.org/obo/MONDO_0032569	isolated growth hormone deficiency, type 5	http://purl.obolibrary.org/obo/MONDO_0000050	isolated congenital growth hormone deficiency		
http://purl.obolibrary.org/obo/MONDO_0957543	auriculocondylar syndrome 4	http://purl.obolibrary.org/obo/MONDO_0000107	auriculocondylar syndrome		
http://purl.obolibrary.org/obo/MONDO_0957544	auriculocondylar syndrome 2B	http://purl.obolibrary.org/obo/MONDO_0000107	auriculocondylar syndrome		
http://purl.obolibrary.org/obo/MONDO_0013013	question mark ears, isolated	http://purl.obolibrary.org/obo/MONDO_0000107	auriculocondylar syndrome		
http://purl.obolibrary.org/obo/MONDO_0014312	auriculocondylar syndrome 3	http://purl.obolibrary.org/obo/MONDO_0000107	auriculocondylar syndrome		
http://purl.obolibrary.org/obo/MONDO_0007195	bifid nose, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0000110	bifid nose		
http://purl.obolibrary.org/obo/MONDO_0013018	keratosis follicularis spinulosa decalvans, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0000136	keratosis follicularis spinulosa decalvans		
http://purl.obolibrary.org/obo/MONDO_0010637	keratosis follicularis spinulosa decalvans, X-linked	http://purl.obolibrary.org/obo/MONDO_0000136	keratosis follicularis spinulosa decalvans		
http://purl.obolibrary.org/obo/MONDO_0011546	heterotaxy, visceral, 2, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0007729	developmental dysplasia of the hip 1	http://purl.obolibrary.org/obo/MONDO_0000158	developmental dysplasia of the hip		
http://purl.obolibrary.org/obo/MONDO_0979872	developmental dysplasia of the hip 4	http://purl.obolibrary.org/obo/MONDO_0000158	developmental dysplasia of the hip		
http://purl.obolibrary.org/obo/MONDO_0014277	developmental dysplasia of the hip 2	http://purl.obolibrary.org/obo/MONDO_0000158	developmental dysplasia of the hip		
http://purl.obolibrary.org/obo/MONDO_0035930	neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0000179	Neu-Laxova syndrome		
http://purl.obolibrary.org/obo/MONDO_0013561	chondrodysplasia with joint dislocations, gPAPP type	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0045032	congenital secretory diarrhea	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		
http://purl.obolibrary.org/obo/MONDO_0045038	cutaneous basidiobolomycosis	http://purl.obolibrary.org/obo/MONDO_0000302	basidiobolomycosis		
http://purl.obolibrary.org/obo/MONDO_0042484	disseminated sporotrichosis	http://purl.obolibrary.org/obo/MONDO_0005968	sporotrichosis		
http://purl.obolibrary.org/obo/MONDO_0045039	systemic basidiobolomycosis	http://purl.obolibrary.org/obo/MONDO_0000302	basidiobolomycosis		
http://purl.obolibrary.org/obo/MONDO_0010290	goiter, multinodular 2	http://purl.obolibrary.org/obo/MONDO_0000334	multinodular goiter		
http://purl.obolibrary.org/obo/MONDO_0011635	goiter, multinodular 3	http://purl.obolibrary.org/obo/MONDO_0000334	multinodular goiter		
http://purl.obolibrary.org/obo/MONDO_0009681	Ullrich congenital muscular dystrophy 1A	http://purl.obolibrary.org/obo/MONDO_0100225	collagen 6-related myopathy		
http://purl.obolibrary.org/obo/MONDO_0958235	Ullrich congenital muscular dystrophy 1B	http://purl.obolibrary.org/obo/MONDO_0000355	Ullrich congenital muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0958236	Ullrich congenital muscular dystrophy 1C	http://purl.obolibrary.org/obo/MONDO_0000355	Ullrich congenital muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0011276	orofacial cleft 2	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		
http://purl.obolibrary.org/obo/MONDO_0012022	orofacial cleft 4	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		
http://purl.obolibrary.org/obo/MONDO_0012478	orofacial cleft 9	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		
http://purl.obolibrary.org/obo/MONDO_0013023	orofacial cleft 12	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		
http://purl.obolibrary.org/obo/MONDO_0013466	orofacial cleft 13	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		
http://purl.obolibrary.org/obo/MONDO_0700251	orofacial cleft 7	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		
http://purl.obolibrary.org/obo/MONDO_0029145	orofacial cleft 8	http://purl.obolibrary.org/obo/MONDO_0000358	orofacial cleft		
http://purl.obolibrary.org/obo/MONDO_0013122	glaucoma 3, primary congenital, D	http://purl.obolibrary.org/obo/MONDO_0100236	LTBP2-related ocular dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0013121	glaucoma 3, primary congenital, C	http://purl.obolibrary.org/obo/MONDO_0000365	primary congenital glaucoma		
http://purl.obolibrary.org/obo/MONDO_0018761	SMARCA4-deficient sarcoma of thorax	http://purl.obolibrary.org/obo/MONDO_0020641	respiratory tract neoplasm		
http://purl.obolibrary.org/obo/MONDO_0859689	hepatobiliary benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000385	benign digestive system neoplasm		
http://purl.obolibrary.org/obo/MONDO_0011548	cerebral palsy, ataxic, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0000397	ataxic cerebral palsy		
http://purl.obolibrary.org/obo/MONDO_0010567	cone dystrophy, X-linked, with tapetal-like sheen	http://purl.obolibrary.org/obo/MONDO_0000455	cone dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010646	macular dystrophy, X-linked	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010491	X-linked acrogigantism due to Xq26 microduplication	http://purl.obolibrary.org/obo/MONDO_0017010	partial duplication of the long arm of chromosome X		
http://purl.obolibrary.org/obo/MONDO_0010581	diabetes insipidus, nephrogenic, X-linked	http://purl.obolibrary.org/obo/MONDO_0016383	nephrogenic diabetes insipidus		
http://purl.obolibrary.org/obo/MONDO_0020721	X-linked sideroblastic anemia 1	http://purl.obolibrary.org/obo/MONDO_0020099	inherited sideroblastic anemia		
http://purl.obolibrary.org/obo/MONDO_0020768	X-linked deafness	http://purl.obolibrary.org/obo/MONDO_0037940	inherited auditory system disease		
http://purl.obolibrary.org/obo/MONDO_0007030	autosomal dominant Aarskog syndrome	http://purl.obolibrary.org/obo/MONDO_0021005	faciodigitogenital syndrome		
http://purl.obolibrary.org/obo/MONDO_0008338	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	http://purl.obolibrary.org/obo/MONDO_0020937	contractures, pterygia, and variable skeletal fusions syndrome		
http://purl.obolibrary.org/obo/MONDO_0016353	palmoplantar keratoderma-spastic paralysis syndrome	http://purl.obolibrary.org/obo/MONDO_0007853	palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome		
http://purl.obolibrary.org/obo/MONDO_0020820	distal arthrogryposis type 2B1	http://purl.obolibrary.org/obo/MONDO_0011128	Sheldon-hall syndrome		
http://purl.obolibrary.org/obo/MONDO_0800444	Birt-Hogg-Dube syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0054833	Charcot-Marie-tooth disease, axonal, type 2DD	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		
http://purl.obolibrary.org/obo/MONDO_0020745	ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		
http://purl.obolibrary.org/obo/MONDO_0020702	autosomal dominant epidermolytic ichthyosis	http://purl.obolibrary.org/obo/MONDO_0007239	epidermolytic ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0700307	spastic paraplegia 30A, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012476	hereditary spastic paraplegia 30		
http://purl.obolibrary.org/obo/MONDO_0032750	arthrogryposis, distal, type 2B2	http://purl.obolibrary.org/obo/MONDO_0011128	Sheldon-hall syndrome		
http://purl.obolibrary.org/obo/MONDO_0032751	arthrogryposis, distal, type 2B3	http://purl.obolibrary.org/obo/MONDO_0011128	Sheldon-hall syndrome		
http://purl.obolibrary.org/obo/MONDO_0014227	hypopigmentation-punctate palmoplantar keratoderma syndrome	http://purl.obolibrary.org/obo/MONDO_0000426	autosomal dominant disease		
http://purl.obolibrary.org/obo/MONDO_0014336	intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014376	intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0015452	Coffin-Siris syndrome		
http://purl.obolibrary.org/obo/MONDO_0015006	epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0850514	inclusion body myopathy and brain white matter abnormalities	http://purl.obolibrary.org/obo/MONDO_0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		
http://purl.obolibrary.org/obo/MONDO_0033304	nonsyndromic deafness, Y-linked	http://purl.obolibrary.org/obo/MONDO_0019497	nonsyndromic genetic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0850112	breast implant-associated anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0000430	mature T-cell and NK-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0100280	Waldenstrom macroglobulinemia	http://purl.obolibrary.org/obo/MONDO_0017594	indolent B-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0032767	pheochromocytoma/paraganglioma syndrome 6	http://purl.obolibrary.org/obo/MONDO_0017366	hereditary pheochromocytoma-paraganglioma		
http://purl.obolibrary.org/obo/MONDO_0032771	pheochromocytoma/paraganglioma syndrome 7	http://purl.obolibrary.org/obo/MONDO_0017366	hereditary pheochromocytoma-paraganglioma		
http://purl.obolibrary.org/obo/MONDO_0859368	short QT syndrome 7	http://purl.obolibrary.org/obo/MONDO_0000453	short QT syndrome		
http://purl.obolibrary.org/obo/MONDO_0008374	retinal cone dystrophy type 1	http://purl.obolibrary.org/obo/MONDO_0000455	cone dystrophy		
http://purl.obolibrary.org/obo/MONDO_0009368	urofacial syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0000463	Ochoa syndrome		
http://purl.obolibrary.org/obo/MONDO_0800108	cleft leaflet of tricuspid valve	http://purl.obolibrary.org/obo/MONDO_0000471	tricuspid valve disorder		
http://purl.obolibrary.org/obo/MONDO_0979323	carotid web	http://purl.obolibrary.org/obo/MONDO_0000473	arterial disorder		
http://purl.obolibrary.org/obo/MONDO_0021896	anterior spinal artery stroke	http://purl.obolibrary.org/obo/MONDO_0020688	spinal cord ischemia		
http://purl.obolibrary.org/obo/MONDO_0859151	fibromuscular dysplasia, multifocal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0851102	pulmonary artery disease	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		
http://purl.obolibrary.org/obo/MONDO_0018708	squamous cell carcinoma of the oral tongue	http://purl.obolibrary.org/obo/MONDO_0000500	tongue squamous cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0018428	9q31.1q31.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016908	partial monosomy of the long arm of chromosome 9		
http://purl.obolibrary.org/obo/MONDO_0979353	2p25.3 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016939	partial duplication of the short arm of chromosome 2		
http://purl.obolibrary.org/obo/MONDO_0968978	aplasia cutis-enamel dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0014358	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0018645	IgG4-related sclerosing cholangitis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		
http://purl.obolibrary.org/obo/MONDO_0018676	eosinophilic angiocentric fibrosis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		
http://purl.obolibrary.org/obo/MONDO_0018359	neonatal dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		
http://purl.obolibrary.org/obo/MONDO_0044981	pseudoallergy	http://purl.obolibrary.org/obo/MONDO_0000605	hypersensitivity reaction disease		
http://purl.obolibrary.org/obo/MONDO_0045071	mycosis fungoides variant	http://purl.obolibrary.org/obo/MONDO_0015821	mycosis fungoides and variants		
http://purl.obolibrary.org/obo/MONDO_0976234	tubulointerstitial kidney disease, autosomal dominant 6	http://purl.obolibrary.org/obo/MONDO_0000608	familial juvenile hyperuricemic nephropathy		
http://purl.obolibrary.org/obo/MONDO_0013643	hyperuricemic nephropathy, familial juvenile type 3	http://purl.obolibrary.org/obo/MONDO_0000608	familial juvenile hyperuricemic nephropathy		
http://purl.obolibrary.org/obo/MONDO_0958101	lymphocytic mastitis	http://purl.obolibrary.org/obo/MONDO_0000620	breast benign neoplasm		
http://purl.obolibrary.org/obo/MONDO_0979292	primary vitreoretinal large b-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018905	diffuse large B-cell lymphoma		
http://purl.obolibrary.org/obo/MONDO_0015819	indolent primary cutaneous B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015820	primary cutaneous B-cell lymphoma		
http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system	http://purl.obolibrary.org/obo/MONDO_0001406	peripheral nervous system neoplasm		
http://purl.obolibrary.org/obo/MONDO_0044764	benign choroid plexus neoplasm	http://purl.obolibrary.org/obo/MONDO_0043218	neurovascular disorder		
http://purl.obolibrary.org/obo/MONDO_0851105	cerebrovascular benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000629	cardiovascular organ benign neoplasm		
http://purl.obolibrary.org/obo/MONDO_0700292	desmoplastic fibroma	http://purl.obolibrary.org/obo/MONDO_0000631	bone benign neoplasm		
http://purl.obolibrary.org/obo/MONDO_0017800	pseudo-Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0000646	ovarian benign neoplasm		
http://purl.obolibrary.org/obo/MONDO_0017801	atypical Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0000646	ovarian benign neoplasm		
http://purl.obolibrary.org/obo/MONDO_0013579	methylmalonate semialdehyde dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0019242	inborn disorder of branched-chain amino acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0010648	major affective disorder 2	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0800335	migraine, familial hemiplegic, 4	http://purl.obolibrary.org/obo/MONDO_0000700	familial hemiplegic migraine		
http://purl.obolibrary.org/obo/MONDO_0020756	migraine, familial hemiplegic, 1	http://purl.obolibrary.org/obo/MONDO_0100254	CACNA1A-related complex neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0011984	synpolydactyly type 2	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		
http://purl.obolibrary.org/obo/MONDO_0012447	synpolydactyly type 3	http://purl.obolibrary.org/obo/MONDO_0000722	non-syndromic synpolydactyly		
http://purl.obolibrary.org/obo/MONDO_0012232	stuttering, familial persistent, 2	http://purl.obolibrary.org/obo/MONDO_0000723	stutter disorder		
http://purl.obolibrary.org/obo/MONDO_0013841	stuttering, familial persistent, 3	http://purl.obolibrary.org/obo/MONDO_0000723	stutter disorder		
http://purl.obolibrary.org/obo/MONDO_0013844	stuttering, familial persistent, 4	http://purl.obolibrary.org/obo/MONDO_0000723	stutter disorder		
http://purl.obolibrary.org/obo/MONDO_0011710	specific language impairment 1	http://purl.obolibrary.org/obo/MONDO_0000724	specific language impairment		
http://purl.obolibrary.org/obo/MONDO_0011711	specific language impairment 2	http://purl.obolibrary.org/obo/MONDO_0000724	specific language impairment		
http://purl.obolibrary.org/obo/MONDO_0011780	specific language impairment 3	http://purl.obolibrary.org/obo/MONDO_0000724	specific language impairment		
http://purl.obolibrary.org/obo/MONDO_0012917	specific language impairment 4	http://purl.obolibrary.org/obo/MONDO_0000724	specific language impairment		
http://purl.obolibrary.org/obo/MONDO_0043125	mcpherson robertson cammarano syndrome	http://purl.obolibrary.org/obo/MONDO_0000728	ptosis		
http://purl.obolibrary.org/obo/MONDO_0043127	mehta lewis patton syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		
http://purl.obolibrary.org/obo/MONDO_0957537	combined oxidative phosphorylation deficiency 58	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0030311	combined oxidative phosphorylation deficiency 52	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0030006	combined oxidative phosphorylation deficiency 40	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0030007	combined oxidative phosphorylation deficiency 41	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0030008	combined oxidative phosphorylation deficiency 42	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0030017	combined oxidative phosphorylation deficiency 43	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0030020	combined oxidative phosphorylation deficiency 44	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0030543	combined oxidative phosphorylation deficiency 54	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0033533	combined oxidative phosphorylation deficiency 45	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0033534	combined oxidative phosphorylation deficiency 46	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0033537	combined oxidative phosphorylation deficiency 47	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0033566	combined oxidative phosphorylation deficiency 48	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0033631	combined oxidative phosphorylation deficiency 51	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0054654	combined oxidative phosphorylation deficiency 32	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0054677	combined oxidative phosphorylation deficiency 33	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0054742	combined oxidative phosphorylation deficiency 35	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0054781	combined oxidative phosphorylation deficiency 36	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0978298	combined oxidative phosphorylation deficiency 60	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0032679	combined oxidative phosphorylation deficiency 37	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0032712	combined oxidative phosphorylation deficiency 38	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0032726	combined oxidative phosphorylation deficiency 39	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0859228	combined oxidative phosphorylation deficiency 55	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0859323	combined oxidative phosphorylation deficiency 56	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0859337	combined oxidative phosphorylation deficiency 57	http://purl.obolibrary.org/obo/MONDO_0000732	combined oxidative phosphorylation deficiency		
http://purl.obolibrary.org/obo/MONDO_0007372	cornea plana 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0000733	cornea plana		
http://purl.obolibrary.org/obo/MONDO_0012993	dyschromatosis universalis hereditaria 2	http://purl.obolibrary.org/obo/MONDO_0000736	dyschromatosis universalis hereditaria		
http://purl.obolibrary.org/obo/MONDO_0024524	dyschromatosis universalis hereditaria 1	http://purl.obolibrary.org/obo/MONDO_0000736	dyschromatosis universalis hereditaria		
http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15	http://purl.obolibrary.org/obo/MONDO_0000761	syndrome caused by partial chromosomal deletion		
http://purl.obolibrary.org/obo/MONDO_0016866	partial deletion of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0700008	chromosome 1 disorder		
http://purl.obolibrary.org/obo/MONDO_0016867	partial deletion of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0700009	chromosome 2 disorder		
http://purl.obolibrary.org/obo/MONDO_0016868	partial deletion of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0700010	chromosome 3 disorder		
http://purl.obolibrary.org/obo/MONDO_0016869	partial deletion of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0700011	chromosome 4 disorder		
http://purl.obolibrary.org/obo/MONDO_0016870	partial deletion of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0700012	chromosome 5 disorder		
http://purl.obolibrary.org/obo/MONDO_0016871	partial deletion of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0700013	chromosome 6 disorder		
http://purl.obolibrary.org/obo/MONDO_0016872	partial deletion of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0700014	chromosome 7 disorder		
http://purl.obolibrary.org/obo/MONDO_0016873	partial deletion of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0700015	chromosome 8 disorder		
http://purl.obolibrary.org/obo/MONDO_0016874	partial deletion of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0700016	chromosome 9 disorder		
http://purl.obolibrary.org/obo/MONDO_0016875	partial deletion of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0700017	chromosome 10 disorder		
http://purl.obolibrary.org/obo/MONDO_0016876	partial deletion of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0700018	chromosome 11 disorder		
http://purl.obolibrary.org/obo/MONDO_0016878	partial deletion of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0700023	chromosome 16 disorder		
http://purl.obolibrary.org/obo/MONDO_0016879	partial deletion of chromosome 17	http://purl.obolibrary.org/obo/MONDO_0020583	chromosome 17 disorder		
http://purl.obolibrary.org/obo/MONDO_0016880	partial deletion of chromosome 18	http://purl.obolibrary.org/obo/MONDO_0700125	chromosome 18 disorder		
http://purl.obolibrary.org/obo/MONDO_0016881	partial deletion of chromosome 19	http://purl.obolibrary.org/obo/MONDO_0700024	chromosome 19 disorder		
http://purl.obolibrary.org/obo/MONDO_0016882	partial deletion of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0700025	chromosome 20 disorder		
http://purl.obolibrary.org/obo/MONDO_0016919	partial deletion of the long arm of chromosome 21	http://purl.obolibrary.org/obo/MONDO_0000761	syndrome caused by partial chromosomal deletion		
http://purl.obolibrary.org/obo/MONDO_0017003	partial deletion of chromosome X	http://purl.obolibrary.org/obo/MONDO_0700027	chromosome X disorder		
http://purl.obolibrary.org/obo/MONDO_0017277	partial deletion of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0700019	chromosome 12 disorder		
http://purl.obolibrary.org/obo/MONDO_0022760	chromosome 22q deletion	http://purl.obolibrary.org/obo/MONDO_0000761	syndrome caused by partial chromosomal deletion		
http://purl.obolibrary.org/obo/MONDO_0016929	partial duplication of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0700015	chromosome 8 disorder		
http://purl.obolibrary.org/obo/MONDO_0016921	partial duplication of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0700008	chromosome 1 disorder		
http://purl.obolibrary.org/obo/MONDO_0016922	partial duplication of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0700009	chromosome 2 disorder		
http://purl.obolibrary.org/obo/MONDO_0016923	partial duplication of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0700010	chromosome 3 disorder		
http://purl.obolibrary.org/obo/MONDO_0016924	partial duplication of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0700011	chromosome 4 disorder		
http://purl.obolibrary.org/obo/MONDO_0016925	partial trisomy/tetrasomy of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0700012	chromosome 5 disorder		
http://purl.obolibrary.org/obo/MONDO_0016927	partial duplication of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0700013	chromosome 6 disorder		
http://purl.obolibrary.org/obo/MONDO_0016928	partial duplication of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0700014	chromosome 7 disorder		
http://purl.obolibrary.org/obo/MONDO_0016930	partial trisomy/tetrasomy of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0700016	chromosome 9 disorder		
http://purl.obolibrary.org/obo/MONDO_0016931	partial duplication of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0700017	chromosome 10 disorder		
http://purl.obolibrary.org/obo/MONDO_0016932	partial duplication of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0700018	chromosome 11 disorder		
http://purl.obolibrary.org/obo/MONDO_0016934	partial duplication of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0700023	chromosome 16 disorder		
http://purl.obolibrary.org/obo/MONDO_0016935	partial duplication of chromosome 17	http://purl.obolibrary.org/obo/MONDO_0020583	chromosome 17 disorder		
http://purl.obolibrary.org/obo/MONDO_0016937	partial duplication of chromosome 19	http://purl.obolibrary.org/obo/MONDO_0700024	chromosome 19 disorder		
http://purl.obolibrary.org/obo/MONDO_0016938	partial trisomy of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0700025	chromosome 20 disorder		
http://purl.obolibrary.org/obo/MONDO_0017008	partial duplication of chromosome X	http://purl.obolibrary.org/obo/MONDO_0700027	chromosome X disorder		
http://purl.obolibrary.org/obo/MONDO_0016972	partial duplication of the long arm of chromosome 22	http://purl.obolibrary.org/obo/MONDO_0000762	syndrome caused by partial chromosomal duplication		
http://purl.obolibrary.org/obo/MONDO_0700029	partial duplication of chromosome 13	http://purl.obolibrary.org/obo/MONDO_0700020	chromosome 13 disorder		
http://purl.obolibrary.org/obo/MONDO_0042968	partial duplication of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0700019	chromosome 12 disorder		
http://purl.obolibrary.org/obo/MONDO_0016964	partial duplication of the long arm of chromosome 14	http://purl.obolibrary.org/obo/MONDO_0000762	syndrome caused by partial chromosomal duplication		
http://purl.obolibrary.org/obo/MONDO_0007375	epithelial basement membrane dystrophy	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0011565	metabolic syndrome X	http://purl.obolibrary.org/obo/MONDO_0000816	abdominal obesity-metabolic syndrome		
http://purl.obolibrary.org/obo/MONDO_0014431	LIPE-related familial partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0011566	abdominal obesity-metabolic syndrome quantitative trait locus 2	http://purl.obolibrary.org/obo/MONDO_0000816	abdominal obesity-metabolic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032837	abdominal obesity-metabolic syndrome 4	http://purl.obolibrary.org/obo/MONDO_0000816	abdominal obesity-metabolic syndrome		
http://purl.obolibrary.org/obo/MONDO_0030338	anencephaly 2	http://purl.obolibrary.org/obo/MONDO_0000819	anencephaly		
http://purl.obolibrary.org/obo/MONDO_0035401	isolated anencephaly	http://purl.obolibrary.org/obo/MONDO_0000819	anencephaly		
http://purl.obolibrary.org/obo/MONDO_0957253	diarrhea 13	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		
http://purl.obolibrary.org/obo/MONDO_0030335	diarrhea 12, with microvillus atrophy	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		
http://purl.obolibrary.org/obo/MONDO_0976266	diarrhea 14, congenital	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		
http://purl.obolibrary.org/obo/MONDO_0976268	diarrhea 15, congenital	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		
http://purl.obolibrary.org/obo/MONDO_0032575	diarrhea 9	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		
http://purl.obolibrary.org/obo/MONDO_0032586	diarrhea 10, protein-losing enteropathy type	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		
http://purl.obolibrary.org/obo/MONDO_0032857	diarrhea 11, malabsorptive, congenital	http://purl.obolibrary.org/obo/MONDO_0000824	congenital diarrhea		
http://purl.obolibrary.org/obo/MONDO_0800369	Parkinson disease 19B, early-onset	http://purl.obolibrary.org/obo/MONDO_0000828	juvenile-onset Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0035008	isolated splenic vein thrombosis	http://purl.obolibrary.org/obo/MONDO_0004634	vein disorder		
http://purl.obolibrary.org/obo/MONDO_0035009	isolated mesenteric vein thrombosis	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		
http://purl.obolibrary.org/obo/MONDO_0043168	panostotic fibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0009692	primary myelofibrosis		
http://purl.obolibrary.org/obo/MONDO_0011021	neuronal intestinal dysplasia, type B	http://purl.obolibrary.org/obo/MONDO_0017574	chronic intestinal pseudoobstruction		
http://purl.obolibrary.org/obo/MONDO_0010782	myopathy, lactic acidosis, and sideroblastic anemia 3	http://purl.obolibrary.org/obo/MONDO_0000863	myopathy, lactic acidosis, and sideroblastic anemia		
http://purl.obolibrary.org/obo/MONDO_0957217	cortical dysplasia, complex, with other brain malformations 12	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		
http://purl.obolibrary.org/obo/MONDO_0032578	cortical dysplasia, complex, with other brain malformations 9	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		
http://purl.obolibrary.org/obo/MONDO_0032866	cortical dysplasia, complex, with other brain malformations 10	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		
http://purl.obolibrary.org/obo/MONDO_0859332	cortical dysplasia, complex, with other brain malformations 11	http://purl.obolibrary.org/obo/MONDO_0000904	complex cortical dysplasia with other brain malformations		
http://purl.obolibrary.org/obo/MONDO_0009576	megalocornea	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0015298	pellucid marginal degeneration	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		
http://purl.obolibrary.org/obo/MONDO_0021921	Arnold stickler bourne syndrome	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0025667	limbal stem cell deficiency	http://purl.obolibrary.org/obo/MONDO_0000942	corneal disorder		
http://purl.obolibrary.org/obo/MONDO_0022843	congenital mumps	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0018343	periodic paralysis with later-onset distal motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0023575	Krauss Herman Holmes syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023577	Krieble Bixler syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0015687	chronic eosinophilic leukemia	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		
http://purl.obolibrary.org/obo/MONDO_0022055	Calabro syndrome	http://purl.obolibrary.org/obo/MONDO_0001029	Klippel-Feil syndrome		
http://purl.obolibrary.org/obo/MONDO_0014689	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0976124	intellectual developmental disorder with polymicrogyria and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032594	intellectual developmental disorder and retinitis pigmentosa; IDDRP	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0022948	Deal Barratt Dillon syndrome	http://purl.obolibrary.org/obo/MONDO_0001083	Fanconi renotubular syndrome		
http://purl.obolibrary.org/obo/MONDO_0054801	erythrocytosis, familial, 6	http://purl.obolibrary.org/obo/MONDO_0001115	familial polycythemia		
http://purl.obolibrary.org/obo/MONDO_0054802	erythrocytosis, familial, 7	http://purl.obolibrary.org/obo/MONDO_0001115	familial polycythemia		
http://purl.obolibrary.org/obo/MONDO_0980935	microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0043137	isolated microcephaly	http://purl.obolibrary.org/obo/MONDO_0001149	microcephaly		
http://purl.obolibrary.org/obo/MONDO_0000060	microcephalic osteodysplastic primordial dwarfism	http://purl.obolibrary.org/obo/MONDO_0001149	microcephaly		
http://purl.obolibrary.org/obo/MONDO_0000181	microcephaly and chorioretinopathy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0043164	palmer pagon syndrome	http://purl.obolibrary.org/obo/MONDO_0001150	hydrocephalus		
http://purl.obolibrary.org/obo/MONDO_0007655	fissured tongue	http://purl.obolibrary.org/obo/MONDO_0001165	tongue disorder		
http://purl.obolibrary.org/obo/MONDO_0022699	cerebral palsy spastic hemiplegic	http://purl.obolibrary.org/obo/MONDO_0001168	spastic hemiplegia		
http://purl.obolibrary.org/obo/MONDO_0022700	cerebral palsy spastic monoplegic	http://purl.obolibrary.org/obo/MONDO_0001169	spastic monoplegia		
http://purl.obolibrary.org/obo/MONDO_0019360	rickettsialpox	http://purl.obolibrary.org/obo/MONDO_0001195	spotted fever		
http://purl.obolibrary.org/obo/MONDO_0021203	serous otitis media	http://purl.obolibrary.org/obo/MONDO_0001212	non-suppurative otitis media		
http://purl.obolibrary.org/obo/MONDO_0015357	secondary hypoparathyroidism due to impaired parathormon secretion	http://purl.obolibrary.org/obo/MONDO_0001220	hypoparathyroidism		
http://purl.obolibrary.org/obo/MONDO_0021644	esophageal varices without bleeding	http://purl.obolibrary.org/obo/MONDO_0001221	esophageal varices		
http://purl.obolibrary.org/obo/MONDO_0021645	esophageal varices with bleeding	http://purl.obolibrary.org/obo/MONDO_0001221	esophageal varices		
http://purl.obolibrary.org/obo/MONDO_0009451	Nezelof syndrome	http://purl.obolibrary.org/obo/MONDO_0001222	congenital T-cell immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0017209	infectious posterior uveitis	http://purl.obolibrary.org/obo/MONDO_0016047	endophthalmitis		
http://purl.obolibrary.org/obo/MONDO_0017212	paraneoplastic uveitis	http://purl.obolibrary.org/obo/MONDO_0001280	choroiditis		
http://purl.obolibrary.org/obo/MONDO_0023165	florid cystic endosalpingiosis of the uterus	http://purl.obolibrary.org/obo/MONDO_0002654	uterine disorder		
http://purl.obolibrary.org/obo/MONDO_0007320	chondrocalcinosis due to apatite crystal deposition	http://purl.obolibrary.org/obo/MONDO_0001314	chondrocalcinosis		
http://purl.obolibrary.org/obo/MONDO_0010917	chondrocalcinosis 1	http://purl.obolibrary.org/obo/MONDO_0001314	chondrocalcinosis		
http://purl.obolibrary.org/obo/MONDO_0034216	resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	http://purl.obolibrary.org/obo/MONDO_0001328	thyroid hormone resistance syndrome		
http://purl.obolibrary.org/obo/MONDO_0011470	hyperlipidemia, combined, 2	http://purl.obolibrary.org/obo/MONDO_0001336	familial hyperlipidemia		
http://purl.obolibrary.org/obo/MONDO_0010019	secretory component deficiency	http://purl.obolibrary.org/obo/MONDO_0001341	selective IgA deficiency disease		
http://purl.obolibrary.org/obo/MONDO_0012850	hypophosphatemic nephrolithiasis/osteoporosis 1	http://purl.obolibrary.org/obo/MONDO_0000079	nephrolithiasis/osteoporosis, hypophosphatemic		
http://purl.obolibrary.org/obo/MONDO_0012851	hypophosphatemic nephrolithiasis/osteoporosis 2	http://purl.obolibrary.org/obo/MONDO_0000079	nephrolithiasis/osteoporosis, hypophosphatemic		
http://purl.obolibrary.org/obo/MONDO_0010884	muscular dystrophy, scapulohumeral	http://purl.obolibrary.org/obo/MONDO_0001347	facioscapulohumeral muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0030354	facioscapulohumeral muscular dystrophy 3, digenic	http://purl.obolibrary.org/obo/MONDO_0001347	facioscapulohumeral muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0030355	facioscapulohumeral muscular dystrophy 4, digenic	http://purl.obolibrary.org/obo/MONDO_0001347	facioscapulohumeral muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0958267	non-syndromic bridging bronchus	http://purl.obolibrary.org/obo/MONDO_0001358	bronchial disorder		
http://purl.obolibrary.org/obo/MONDO_0958268	non-syndromic congenital bronchial atresia	http://purl.obolibrary.org/obo/MONDO_0001358	bronchial disorder		
http://purl.obolibrary.org/obo/MONDO_0020248	vitreoretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0020246	inherited vitreoretinopathy		
http://purl.obolibrary.org/obo/MONDO_0009713	myopia 18, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0010377	myopia 13, X-linked	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0010685	myopia 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0011300	myopia 3, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012021	myopia 17, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012045	myopia 5, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012227	myopia 7	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012228	myopia 8	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012229	myopia 9	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012230	myopia 10	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012388	myopia 11, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012389	myopia 12, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012469	myopia 14	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012932	myopia 16, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0012995	myopia 15, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0030697	myopia 28, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0049221	myopia 26, X-linked, female-limited	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0032941	myopia 27	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0013508	myopia 19, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0013603	myopia 20, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0013670	myopia, high, with cataract and vitreoretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0014177	myopia 22, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0014183	myopia 23, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0014411	myopia 24, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0001384	myopia		
http://purl.obolibrary.org/obo/MONDO_0043133	microcephaly micropenis convulsions	http://purl.obolibrary.org/obo/MONDO_0001386	visual epilepsy		
http://purl.obolibrary.org/obo/MONDO_0043139	microcephaly sparse hair intellectual disability seizures	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		
http://purl.obolibrary.org/obo/MONDO_0019782	humero-ulnar synostosis	http://purl.obolibrary.org/obo/MONDO_0001411	synostosis		
http://purl.obolibrary.org/obo/MONDO_0850084	non-syndromic pansynostosis	http://purl.obolibrary.org/obo/MONDO_0001411	synostosis		
http://purl.obolibrary.org/obo/MONDO_0043083	coronal synostosis, syndactyly and jejunal atresia	http://purl.obolibrary.org/obo/MONDO_0001411	synostosis		
http://purl.obolibrary.org/obo/MONDO_0007354	coloboma of optic nerve	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0020355	coloboma of eye lens	http://purl.obolibrary.org/obo/MONDO_0001476	coloboma		
http://purl.obolibrary.org/obo/MONDO_0022060	calloso-genital dysplasia	http://purl.obolibrary.org/obo/MONDO_0009022	corpus callosum, agenesis of		
http://purl.obolibrary.org/obo/MONDO_0007350	coloboma, ocular, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008452	spinal muscular atrophy, facioscapulohumeral type	http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0008455	spinal muscular atrophy, segmental	http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0010057	spinal muscular atrophy, Ryukyuan type	http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0010058	scapuloperoneal spinal muscular atrophy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0016113	bulbospinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0001516	spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0020651	mixed germ cell tumor of vulva	http://purl.obolibrary.org/obo/MONDO_0015864	mixed germ cell tumor		
http://purl.obolibrary.org/obo/MONDO_0034103	infection-related hemolytic uremic syndrome	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		
http://purl.obolibrary.org/obo/MONDO_0043207	urethral obstruction sequence	http://purl.obolibrary.org/obo/MONDO_0018559	fetal lower urinary tract obstruction		
http://purl.obolibrary.org/obo/MONDO_0023642	Weber syndrome	http://purl.obolibrary.org/obo/MONDO_0001584	ocular motility disease		
http://purl.obolibrary.org/obo/MONDO_0007325	choreoathetosis, familial inverted	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0011061	chorea, remitting, with nystagmus and cataract	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0030707	Trichomonas balanoposthitis	http://purl.obolibrary.org/obo/MONDO_0002154	trichomoniasis		
http://purl.obolibrary.org/obo/MONDO_0035161	progressive dementia with neuroserpin inclusion bodies	http://purl.obolibrary.org/obo/MONDO_0001627	dementia		
http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0045030	non-infectious diarrheal disease	http://purl.obolibrary.org/obo/MONDO_0001673	diarrheal disease		
http://purl.obolibrary.org/obo/MONDO_0009386	hyperlexia	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0020112	vitamin B12- and folate-independent constitutional megaloblastic anemia	http://purl.obolibrary.org/obo/MONDO_0016624	hereditary anemia		
http://purl.obolibrary.org/obo/MONDO_0000014	colorblindness, partial	http://purl.obolibrary.org/obo/MONDO_0001703	color vision disorder		
http://purl.obolibrary.org/obo/MONDO_0013851	autosomal dominant aplasia and myelodysplasia	http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome		
http://purl.obolibrary.org/obo/MONDO_0014317	pancytopenia-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome		
http://purl.obolibrary.org/obo/MONDO_0958264	infectious scleritis	http://purl.obolibrary.org/obo/MONDO_0043885	eye infectious disorder		
http://purl.obolibrary.org/obo/MONDO_0958265	idiopathic scleritis	http://purl.obolibrary.org/obo/MONDO_0001718	scleritis		
http://purl.obolibrary.org/obo/MONDO_0958266	immune-mediated scleritis	http://purl.obolibrary.org/obo/MONDO_0001718	scleritis		
http://purl.obolibrary.org/obo/MONDO_0850007	syndromic lacrimal system disorder	http://purl.obolibrary.org/obo/MONDO_0001854	lacrimal apparatus disorder		
http://purl.obolibrary.org/obo/MONDO_0030038	hereditary glaucoma, primary closed-angle	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		
http://purl.obolibrary.org/obo/MONDO_0018967	short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0010615	isolated growth hormone deficiency type III		
http://purl.obolibrary.org/obo/MONDO_0009967	renal tubular acidosis 3	http://purl.obolibrary.org/obo/MONDO_0001909	renal tubular acidosis		
http://purl.obolibrary.org/obo/MONDO_0011268	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0018440	autosomal recessive distal renal tubular acidosis		
http://purl.obolibrary.org/obo/MONDO_0043075	neuroaxonal dystrophy renal tubular acidosis	http://purl.obolibrary.org/obo/MONDO_0002283	neuroaxonal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0850058	chronic neurovisceral acid sphingomyelinase deficiency	http://purl.obolibrary.org/obo/MONDO_0001982	Niemann-Pick disease		
http://purl.obolibrary.org/obo/MONDO_0010316	FG syndrome 3	http://purl.obolibrary.org/obo/MONDO_0002010	FG syndrome		
http://purl.obolibrary.org/obo/MONDO_0010366	FG syndrome 5	http://purl.obolibrary.org/obo/MONDO_0002010	FG syndrome		
http://purl.obolibrary.org/obo/MONDO_0700298	isolated methylmalonic aciduria cblD type	http://purl.obolibrary.org/obo/MONDO_0002012	methylmalonic acidemia		
http://purl.obolibrary.org/obo/MONDO_0018717	mixed cystic lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0002013	lymphangioma		
http://purl.obolibrary.org/obo/MONDO_0019329	microcystic lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0002013	lymphangioma		
http://purl.obolibrary.org/obo/MONDO_0013324	lymphedema-posterior choanal atresia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0850100	body integrity dysphoria	http://purl.obolibrary.org/obo/MONDO_0002025	psychiatric disorder		
http://purl.obolibrary.org/obo/MONDO_0022636	candida glabrata infection	http://purl.obolibrary.org/obo/MONDO_0002026	candidiasis		
http://purl.obolibrary.org/obo/MONDO_0018668	scedosporiosis	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		
http://purl.obolibrary.org/obo/MONDO_0979307	emergomycosis	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		
http://purl.obolibrary.org/obo/MONDO_0859004	invasive scopulariopsis infection	http://purl.obolibrary.org/obo/MONDO_0002041	fungal infectious disease		
http://purl.obolibrary.org/obo/MONDO_0020161	congenital ectropion	http://purl.obolibrary.org/obo/MONDO_0002043	ectropion		
http://purl.obolibrary.org/obo/MONDO_0024277	neonatal thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0002049	thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0007422	keratoderma hereditarium mutilans	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014574	peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0800107	anterior deviation infundibular septum	http://purl.obolibrary.org/obo/MONDO_0002070	ventricular septal defect		
http://purl.obolibrary.org/obo/MONDO_0009954	Ramon syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859182	Short stature, Dauber-Argente type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007713	clonic hemifacial spasm	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		
http://purl.obolibrary.org/obo/MONDO_0043300	actinic cheilitis	http://purl.obolibrary.org/obo/MONDO_0002102	cheilitis		
http://purl.obolibrary.org/obo/MONDO_0007677	hyperglycinuria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007748	hypercalciuria, absorptive, 2	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011802	hypercalciuria, absorptive, 1	http://purl.obolibrary.org/obo/MONDO_0002118	urinary system disorder		
http://purl.obolibrary.org/obo/MONDO_0100338	urinary tract infection	http://purl.obolibrary.org/obo/MONDO_0005550	infectious disease		
http://purl.obolibrary.org/obo/MONDO_0018606	extensive peripapillary myelinated nerve fibers	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0009421	hypogonadism, male	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0042962	Slti-Salem syndrome	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		
http://purl.obolibrary.org/obo/MONDO_0043077	weinstein kliman scully syndrome	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0010541	X-linked calvarial hyperostosis	http://purl.obolibrary.org/obo/MONDO_0002185	hyperostosis		
http://purl.obolibrary.org/obo/MONDO_0035136	isolated melanotic schwannoma	http://purl.obolibrary.org/obo/MONDO_0021089	peripheral nervous system cancer		
http://purl.obolibrary.org/obo/MONDO_0011615	East Texas bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		
http://purl.obolibrary.org/obo/MONDO_0035742	factor V short isoforms-related bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		
http://purl.obolibrary.org/obo/MONDO_0035743	factor V amsterdam bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		
http://purl.obolibrary.org/obo/MONDO_0035759	factor V atlanta bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		
http://purl.obolibrary.org/obo/MONDO_0035776	combined deficiency of factor VII and factor X	http://purl.obolibrary.org/obo/MONDO_0002242	coagulation protein disease		
http://purl.obolibrary.org/obo/MONDO_0013775	thrombomodulin-related bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		
http://purl.obolibrary.org/obo/MONDO_0015801	hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		
http://purl.obolibrary.org/obo/MONDO_0850054	hemophilia B leyden	http://purl.obolibrary.org/obo/MONDO_0002243	hemorrhagic disease		
http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0035738	acquired factor VII deficiency	http://purl.obolibrary.org/obo/MONDO_0020599	acquired coagulation factor deficiency		
http://purl.obolibrary.org/obo/MONDO_0018809	idiopathic peliosis hepatis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0007097	Finnish type amyloidosis	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0007123	ankyloblepharon filiforme adnatum-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0007432	cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0007539	encephalopathy, recurrent, of childhood	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0007853	palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0008517	syndactyly-polydactyly-ear lobe syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0008904	camptomelic syndrome, long-limb type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0009598	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0009634	microtia with meatal atresia and conductive deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010082	subaortic stenosis-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0010207	wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0010263	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0010992	Ayme-Gripp syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0011052	amelia cleft lip palate hydrocephalus iris coloboma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011203	Pierre Robin sequence with pectus excavatum and rib and scapular anomalies	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0011882	skin fragility-woolly hair-palmoplantar keratoderma syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0012243	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012257	Cerebrorenodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0014196	Hartsfield-Bixler-Demyer syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0015457	corpus callosum agenesis-double urinary collecting system syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0015726	distal trisomy 14q	http://purl.obolibrary.org/obo/MONDO_0016964	partial duplication of the long arm of chromosome 14		
http://purl.obolibrary.org/obo/MONDO_0017126	oculo-skeletal-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017980	syngnathia multiple anomalies	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		
http://purl.obolibrary.org/obo/MONDO_0018320	primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0009485	oculocerebrofacial syndrome, Kaufman type	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010515	Meester-Loeys syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011239	colobomatous macrophthalmia-microcornea syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		
http://purl.obolibrary.org/obo/MONDO_0016821	shoulder and girdle defects-familial intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0016827	myopathy-growth delay-intellectual disability-hypospadias syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017281	renal caliceal diverticuli-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017613	intellectual disability-hypotonia-skin hyperpigmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017642	intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017798	Spigelian hernia-cryptorchidism syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017856	X-linked spasticity-intellectual disability-epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0017994	severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0017995	spondylocostal dysostosis-hypospadias-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0018021	hypotrichosis-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0018122	digital anomalies-intellectual disability-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0018249	finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0018317	growth retardation-mild developmental delay-chronic hepatitis syndrome	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		
http://purl.obolibrary.org/obo/MONDO_0018476	dystonia-aphonia syndrome	http://purl.obolibrary.org/obo/MONDO_0020065	combined dystonia		
http://purl.obolibrary.org/obo/MONDO_0018572	severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0018573	intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0018577	pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0018821	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0800195	achalasia-alacrima syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0800300	black locks with albinism and deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0850049	painful legs and moving toes syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0850050	congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0850059	hereditary persistence of fetal hemoglobin-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0850071	developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0850087	primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0850115	early-onset obesity-hyperphagia-severe developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0850009	syndromic microspherophakia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0957473	craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0957477	MYT1L-related developmental delay-intellectual disability-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0021670	post-infectious syndrome	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		
http://purl.obolibrary.org/obo/MONDO_0031329	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0971064	orofacial clefting-cardiac anomalies-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0971080	Grisel syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0975751	brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0011636	Diamond-Blackfan anemia 2	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		
http://purl.obolibrary.org/obo/MONDO_0958227	polydactyly-macrocephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0958256	pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0958257	psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0958279	megalencephaly-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0970944	Leigh syndrome, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0970998	auroneurodental syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042911	Schwartz-Cohen-addad-Lambert syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0979261	RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0979898	Dursun-Ozgul neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980702	immune dysregulation, neurodevelopmental defects, and colitis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0980703	Harel-Tora neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980707	Valence-Farazi cerebellar ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0980712	dyschromatosis, ichthyosis, deafness, and atopic disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0980751	Ramond-Elliott neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980973	STAD syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0980974	craniosynostosis-scoliosis syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0022887	craniofrontonasal syndrome Teebi type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0021829	agnathia-microstomia-synotia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0021905	Apert-like polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0021918	arena syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0021962	baetz-greenwalt syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0021964	bagatelle Cassidy syndrome	http://purl.obolibrary.org/obo/MONDO_0016608	megalencephaly		
http://purl.obolibrary.org/obo/MONDO_0022067	Cantu Sanchez-Corona Fragoso syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022089	Carnevale hernandez castillo syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022094	Cartwright Nelson Fryns syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022337	AIDS dysmorphic syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022417	alopecia congenita keratosis palmoplantaris	http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0022424	alpha-mannosidosis type 1	http://purl.obolibrary.org/obo/MONDO_0009561	alpha-mannosidosis		
http://purl.obolibrary.org/obo/MONDO_0022456	ankle defects short stature	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022457	ankyloblepharon filiforme imperforate anus	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022504	arthrogryposis spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022510	atlanto-axial fusion	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022545	Barnicoat Baraitser syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022553	BD syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022555	Beardwell syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022567	bhaskar jagannathan syndrome	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		
http://purl.obolibrary.org/obo/MONDO_0022568	bidirectional tachycardia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022576	bilirubin induced brain injury in the newborn	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022587	bone dysplasia corpus callosum agenesis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0022598	brachydactyly absence of distal phalanges	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022599	brachydactyly anonychia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022602	brachydactyly small stature face anomalies	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022603	brachydactyly tibial hypoplasia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022608	brittle bone syndrome lethal type	http://purl.obolibrary.org/obo/MONDO_0011375	brittle bone disorder		
http://purl.obolibrary.org/obo/MONDO_0022610	bronchiectasis oligospermia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022612	Brunsting-Perry syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022613	bruyn scheltens syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022615	burn goodship syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022633	camptodactyly joint contractures and facial skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022634	camptodactyly vertebral fusion	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022639	Cantu Sanchez-Corona Garcia-Cruz syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022644	cardiac hydatid cysts with intracavitary expansion	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022645	cardioencephalomyopathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022646	cardiofacial syndrome short limbs	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022647	cardiomelic syndrome stratton Koehler type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022650	cardiomyopathy diabetes deafness	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022654	cardiomyopathy hypogonadism collagenoma syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022655	cardiomyopathy hypogonadism metabolic anomalies	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0022656	cardiomyopathy spherocytosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022662	carpo tarsal osteolysis recessive	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022675	cataract skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022682	cennamo gangemi syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022685	cerebellar agenesis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022691	cerebello-olivary atrophy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022693	cerebral calcification cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022694	cerebral calcifications opalescent teeth phosphaturia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022712	oculo digital syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022733	choreoacanthocytosis amyotrophic	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022734	chorioretinopathy dominant form microcephaly	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022739	Christian Demyer Franken syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022740	Christian Johnson angenieta syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022761	chromosome 3 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0700010	chromosome 3 disorder		
http://purl.obolibrary.org/obo/MONDO_0022765	chronic demyelinizing neuropathy with IgM monoclonal	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022769	ciliary dyskinesia-bronchiectasis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022770	circumscribed cutaneous aplasia of the vertex	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022771	circumscribed disseminated keratosis Jadassohn lew type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022775	cleft lip and palate malrotation cardiopathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022776	cleft lip and/or palate with mucous cysts of lower	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022777	cleft lip palate dysmorphism kumar type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022778	cleft lip palate intellectual disability corneal opacity	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022779	cleft lip palate oligodontia syndactyly pili torti	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022780	cleft lip palate pituitary deficiency	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022781	cleft lip palate-tetraphocomelia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022782	cleft lower lip cleft lateral canthi chorioretinal	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022785	cleft palate cardiac defect ectrodactyly	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022786	cleft palate colobomata radial synostosis deafness	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022787	cleft palate heart disease polydactyly absent tibia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022790	cleft tongue	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022791	coarse face hypotonia constipation	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022798	Cohen Lockood Wyborney syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022802	Collins-Sakati syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022803	coloboma porencephaly hydronephrosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022804	colobomata unilobar lung heart defect	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022805	colonic malakoplakia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022809	Colver Steer Godman syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022810	Combarros Calleja Leno syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022815	congenital absence of the sternocleidomastoid muscle	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022817	congenital amputation	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022818	congenital aneurysms of the great vessels	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022820	congenital articular rigidity	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022821	congenital benign spinal muscular atrophy dominant	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022822	congenital cardiovascular shunt	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022823	congenital contractures	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022824	congenital craniosynostosis maternal hyperthyroiditis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022825	congenital cystic eye	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022831	congenital heart disease ptosis hypodontia craniostosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022832	congenital heart disease radio ulnar synostosis intellectual disability	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022849	congenital stenosis of cervical medullary canal	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022854	congenital unilateral pulmonary hypoplasia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022855	congenital vagal hyperreflexivity	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022862	Cormier Rustin Munnich syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022863	corneal crystals myopathy neuropathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022865	corneal dystrophy ichthyosis microcephaly intellectual disability	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022866	corneal dystrophy pigmentary anomaly malabsorption	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022871	corpus callosum agenesis of blepharophimosis robin type	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0022872	corpus callosum dysgenesis X-linked recessive	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0022873	corpus callosum dysgenesis cleft spasm	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0022874	corpus callosum dysgenesis hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0022875	cortada Koussef Matsumoto syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022876	Cortes Lacassie syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022883	craniofacial and skeletal defects	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022884	craniofacial dysostosis arthrogryposis progeroid appearance	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022889	craniostenosis with congenital heart disease intellectual disability	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022899	crawfurd syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022908	cutis gyratum acanthosis nigricans craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022909	cutis laxa osteoporosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022934	Davis Lafer syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022936	de Hauwere Leroy adriaenssens syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022937	deafness conductive stapedial ear malformation facial palsy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022938	deafness goiter stippled epiphyses	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022941	deafness hypospadias metacarpal and metatarsal syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022942	deafness mesenteric diverticula of small bowel neuropathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022945	deafness peripheral neuropathy arterial disease	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022946	deafness progressive cataract autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022960	dermatocardioskeletal syndrome boronne type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022971	diabetes persistent mullerian ducts	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022975	diaphragmatic agenesis radial aplasia omphalocele	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022977	diaphragmatic hernia exomphalos corpus callosum agenesis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022978	diaphragmatic hernia upper limb defects	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022981	die Smulders droog van dijk syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022989	diomedi bernardi placidi syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022990	diphallus rachischisis imperforate anus	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0022999	distichiasis heart congenital anomalies	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023002	double discordia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023005	double uterus-hemivagina-renal agenesis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023013	Duker-Weiss-Siber syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023015	duodenal atresia tetralogy of fallot	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023016	duplication of leg mirror foot	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023017	duplication of the thumb unilateral biphalangeal	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023018	dupont sellier chochillon syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023019	dwarfism bluish sclerae	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023020	dwarfism deafness retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023021	dwarfism lethal type advanced bone age	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023022	dwarfism thin bones multiple fractures	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023030	dysmorphism cleft palate loose skin	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023050	ectrodactyly cardiopathy dysmorphism	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023059	Elliott ludman Teebi syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023061	enamel hypoplasia cataract hydrocephaly	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023062	encephalocele anencephaly	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023066	enchondromatosis dwarfism deafness	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023068	Engelhard Yatziv syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023069	enlarged vestibular aqueduct syndrome	http://purl.obolibrary.org/obo/MONDO_0024654	skull disorder		
http://purl.obolibrary.org/obo/MONDO_0023079	epidermal nevus vitamin D resistant rickets	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023083	epimetaphyseal dysplasia cataract	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023084	epiphyseal dysplasia dysmorphism camptodactyly	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023091	esophageal atresia coloboma talipes	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023098	extrasystoles short stature hyperpigmentation microcephaly	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023100	facial clefting corpus callosum agenesis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023101	facio digito genital syndrome recessive form	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023102	facio skeletal genital syndrome rippberger type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023111	familial capillaro-venous leptomeningeal angiomatosis	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023133	Faye-Petersen-Ward-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023137	feigenbaum Bergeron syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023138	Feingold trainer syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023142	fetal brain disruption sequence	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023143	fetal enterovirus syndrome	http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy		
http://purl.obolibrary.org/obo/MONDO_0023154	fibromatosis multiple non ossifying	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023155	fibula aplasia complex brachydactyly	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023157	fibular hypoplasia scapulo pelvic dysplasia absent	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023167	focal alopecia congenital megalencephaly	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023170	focal or multifocal malformations in neuronal migration	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023175	Fontaine farriaux blanckaert syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023186	Fraser Jequier Chen syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023193	Friedman Goodman syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023196	frontonasal malformation cloacal exstrophy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023197	frontonasal dysplasia Klippel feil syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023199	frontonasal dysplasia phocomelic upper limbs	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023200	Fryns Fabry Remans syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023201	Fryns Smeets Thiry syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023204	Fukuda-Miyanomae-Nakata syndrome	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0023208	Fuqua Berkovitz syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023212	Garret-Tripp syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023214	gas bloat syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023221	Gaucher ichthyosis restrictive dermopathy	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023226	gershinibaruch Leibo syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023230	Ghose-Sachdev-Kumar syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023240	gigantism advanced bone age hoarse cry	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023255	glossopalatine ankylosis micrognathia ear anomalies	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023267	goldstein hutt syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023272	goniodysgenesis intellectual disability short stature	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023288	green sandford davison syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023290	grix Blankenship Peterson syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023510	Jaffer-Beighton syndrome	http://purl.obolibrary.org/obo/MONDO_0008475	spondylolisthesis		
http://purl.obolibrary.org/obo/MONDO_0023521	Judge Misch wright syndrome	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0023540	Kashani-Strom-Utley syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023541	Kasznica-Carlson-Coppedge syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023543	Katsantoni-Papadakou-Lagoyanni syndrome	http://purl.obolibrary.org/obo/MONDO_0002917	disorder of pilosebaceous unit		
http://purl.obolibrary.org/obo/MONDO_0023558	Kocher-debre-Semelaigne syndrome	http://purl.obolibrary.org/obo/MONDO_0018612	congenital hypothyroidism		
http://purl.obolibrary.org/obo/MONDO_0023561	Koone-Rizzo-Elias syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023567	Kozlowski Brown Hardwick syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023569	Kozlowski Ouvrier syndrome	http://purl.obolibrary.org/obo/MONDO_0009022	corpus callosum, agenesis of		
http://purl.obolibrary.org/obo/MONDO_0023571	Kozlowski Rafinski Klicharska syndrome	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		
http://purl.obolibrary.org/obo/MONDO_0023573	Kozlowski Warren Fisher syndrome	http://purl.obolibrary.org/obo/MONDO_0017042	thanatophoric dysplasia		
http://purl.obolibrary.org/obo/MONDO_0023579	Kuster Majewski Hammerstein syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023581	Kuster syndrome	http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate		
http://purl.obolibrary.org/obo/MONDO_0023605	Laugier-Hunziker syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023607	Laurence-Prosser-Rocker syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023609	le Marec-Bracq-Picaud syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0023809	Milner-Khallouf-Gibson syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0024234	Seckel like syndrome majoor-krakauer type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0024418	muscular fibrosis multifocal obstructed vessels	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0035027	microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0035586	Cramp-fasciculation syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0035707	blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0035775	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0035819	cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0035823	KLHL7-related Bohring-Opitz-like syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0035824	KLHL7-related cold-induced sweating-like syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0976286	Tayoun-Maawali syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0100212	IFAP syndrome	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0033938	acute radiation syndrome	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0036042	KAT6B-related multiple congenital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0036189	oculogastrointestinal-neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0036212	spastic paraparesis-cataracts-speech delay syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0042498	Ruzicka-Goerz-Anton syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042600	Sammartino-Decreccio syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042601	Samson-Gardner syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042602	Samson-Viljoen syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042603	Sanderson-Fraser syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042604	Sandhaus-Ben-Ami syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042705	prostatic malacoplakia associated with prostatic abscess	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042717	Saul-Wilkes-Stevenson syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042726	macrogyria, pseudobulbar palsy and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042912	Schlegelberger-Grote syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042913	Schrander-stumpel-Theunissen-Hulsmans syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042956	Saal-Bulas syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0042960	Sackey-Sakati-Aur syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043069	Zerres Rietschel Majewski syndrome	http://purl.obolibrary.org/obo/MONDO_0015514	hereditary endocrine growth disease		
http://purl.obolibrary.org/obo/MONDO_0043071	Zazam Sheriff Phillips syndrome	http://purl.obolibrary.org/obo/MONDO_0019172	aniridia		
http://purl.obolibrary.org/obo/MONDO_0043073	Zadik-Barak-Levin syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043087	thickened earlobes with conductive deafness from incus-stapes abnormalities	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043106	ichthyosis linearis circumflexa	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0043108	infantile striato thalamic degeneration	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043114	Landy-Donnai syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043129	merlob grunebaum reisner syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043170	Pavone Fiumara Rizzo syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043172	pfeiffer rockelein syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043174	Pfeiffer Tietze Welte syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043176	phosphoribosylpyrophosphate synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0019254	inborn disorder of purine or pyrimidine metabolism		
http://purl.obolibrary.org/obo/MONDO_0043179	piepkorn karp hickok syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043183	podder-tolmie syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043185	pointer syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043193	richieri-costa guion-almeida cohen syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043195	Rubinstein Taybi like syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043197	ruvalcaba churesigaew myhre syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0043199	short limb dwarf lethal colavita kozlowski type	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0044634	retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0054573	Lopes-Maciel-Rodan syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0054636	Skraban-Deardorff syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0100347	carcinoid syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0976127	Muggenthaler-Chowdhury-Chioza syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0978295	craniofaciocardiohepatic syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0978296	FICUS syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0978303	Li-Takada-Miyake syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0979227	Guillouet-Gordon syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0979234	ICHAD syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0979240	cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0979866	oculovertebral syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0979871	Alsahan-Harris syndrome	http://purl.obolibrary.org/obo/MONDO_0005308	ciliopathy		
http://purl.obolibrary.org/obo/MONDO_0979877	Ververi-Brady syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0026730	Basilicata-Akhtar syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032572	cardiac, facial, and digital anomalies with developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033853	congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033864	infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0034145	oculocerebrodental syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0034204	syndromic congenital sodium diarrhea	http://purl.obolibrary.org/obo/MONDO_0015170	congenital sodium diarrhea		
http://purl.obolibrary.org/obo/MONDO_0975795	Kariminejad neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0975797	myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0975799	brain malformation renal syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0975830	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0975836	Karayol-Borroto-Haghshenas neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0975837	neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0975848	Morimoto-Ryu-Malicdan neuromuscular syndrome	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		
http://purl.obolibrary.org/obo/MONDO_0975874	neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0975877	neurodevelopmental disorder with variable familial hypercholanemia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0975953	Pan-Chung-Bellen syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0975957	telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013659	microcephaly-capillary malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013711	peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014119	intellectual disability-strabismus syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		
http://purl.obolibrary.org/obo/MONDO_0014218	severe dermatitis-multiple allergies-metabolic wasting syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014219	alacrima, achalasia, and intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0014258	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0014335	diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0014495	retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014497	polyendocrine-polyneuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0015770	congenital hypogonadotropic hypogonadism		
http://purl.obolibrary.org/obo/MONDO_0014686	short stature, microcephaly, and endocrine dysfunction	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		
http://purl.obolibrary.org/obo/MONDO_0014723	PMP22-RAI1 contiguous gene duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016967	partial duplication of the long arm of chromosome 17		
http://purl.obolibrary.org/obo/MONDO_0014747	familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0024458	disorder of visual system		
http://purl.obolibrary.org/obo/MONDO_0014791	Luscan-Lumish syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014952	intellectual disability-epilepsy-extrapyramidal syndrome	http://purl.obolibrary.org/obo/MONDO_0800443	DEAF1-associated neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0015498	oromandibular-limb anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		
http://purl.obolibrary.org/obo/MONDO_0016292	nodular neuronal heterotopia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0016417	congenital ichthyosis-microcephalus-tetraplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0016509	microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0024171	radio-digito-facial dysplasia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0024421	short stature contractures hypotonia	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0958091	cleft palate-congenital heart defect-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0958205	Yuksel-Vogel-Bauer syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0850092	post-cardiac arrest syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0850201	hereditary alpha tryptasemia syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	syndromic disease		
http://purl.obolibrary.org/obo/MONDO_0009375	hymen, imperforate	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0019370	vulvovaginal gingival syndrome	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0859205	delayed puberty, self-limited	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0015299	Asherman syndrome	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0019128	mullerian aplasia	http://purl.obolibrary.org/obo/MONDO_0002263	female reproductive system disorder		
http://purl.obolibrary.org/obo/MONDO_0017238	hemoglobinopathy Toms River	http://purl.obolibrary.org/obo/MONDO_0013511	cyanosis, transient neonatal		
http://purl.obolibrary.org/obo/MONDO_0017145	beta-thalassemia and related diseases	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		
http://purl.obolibrary.org/obo/MONDO_0041775	intraoperative floppy iris syndrome	http://purl.obolibrary.org/obo/MONDO_0002289	iris disorder		
http://purl.obolibrary.org/obo/MONDO_0971124	perifoveal exudative vascular anomalous complex	http://purl.obolibrary.org/obo/MONDO_0002311	retinal vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0013640	familial retinal arterial macroaneurysm	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		
http://purl.obolibrary.org/obo/MONDO_0859255	peripheral motor neuropathy, childhood-onset, biotin-responsive	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0009687	myasthenia, congenital, refractory to acetylcholinesterase inhibitors	http://purl.obolibrary.org/obo/MONDO_0018940	congenital myasthenic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012612	intellectual disability, autosomal recessive 12	http://purl.obolibrary.org/obo/MONDO_0979317	ST3GAL3-congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0020247	congenital vitreoretinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0020246	inherited vitreoretinopathy		
http://purl.obolibrary.org/obo/MONDO_0020344	postsynaptic congenital myasthenic syndrome	http://purl.obolibrary.org/obo/MONDO_0018940	congenital myasthenic syndrome		
http://purl.obolibrary.org/obo/MONDO_0018145	congenital retinal arteriovenous communication	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		
http://purl.obolibrary.org/obo/MONDO_0018682	congenital insensitivity to pain with severe intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0012490	cone-rod synaptic disorder, congenital nonprogressive	http://purl.obolibrary.org/obo/MONDO_0016293	congenital stationary night blindness		
http://purl.obolibrary.org/obo/MONDO_0958275	segmental spinal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0002545	spinal cord disorder		
http://purl.obolibrary.org/obo/MONDO_0979371	congenital neuronal ceroid lipofuscinosis 10	http://purl.obolibrary.org/obo/MONDO_0012414	neuronal ceroid lipofuscinosis 10		
http://purl.obolibrary.org/obo/MONDO_0022998	distal arthrogryposis Moore weaver type	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0030341	myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018940	congenital myasthenic syndrome		
http://purl.obolibrary.org/obo/MONDO_0035402	isolated exencephaly	http://purl.obolibrary.org/obo/MONDO_0002320	congenital nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0030912	intellectual disability, autosomal dominant 47	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030913	intellectual disability, autosomal dominant 48	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0044299	myasthenic syndrome, congenital, 22	http://purl.obolibrary.org/obo/MONDO_0018940	congenital myasthenic syndrome		
http://purl.obolibrary.org/obo/MONDO_0044701	childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0031007	spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0800101	NMNAT1-related retinopathy		
http://purl.obolibrary.org/obo/MONDO_0032596	myasthenic syndrome, congenital, 23, presynaptic	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032597	myasthenic syndrome, congenital, 24, presynaptic	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032675	myasthenic syndrome, congenital, 25, presynaptic	http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032808	developmental and epileptic encephalopathy, 77	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032811	night blindness, congenital stationary, type1i	http://purl.obolibrary.org/obo/MONDO_0100453	GUCY2D-related recessive retinopathy		
http://purl.obolibrary.org/obo/MONDO_0034106	developmental and epileptic encephalopathy, 73	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014003	developmental and epileptic encephalopathy, 15	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014201	developmental and epileptic encephalopathy, 18	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014371	developmental and epileptic encephalopathy, 23	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014787	severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0014848	TELO2-related intellectual disability-neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0014892	micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014944	short stature-brachydactyly-obesity-global developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0100598	autosomal recessive syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0015252	severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		
http://purl.obolibrary.org/obo/MONDO_0015519	congenital or early infantile CACH syndrome	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		
http://purl.obolibrary.org/obo/MONDO_0016155	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	http://purl.obolibrary.org/obo/MONDO_0018282	neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan		
http://purl.obolibrary.org/obo/MONDO_0016319	congenital insensitivity to pain with hyperhidrosis	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		
http://purl.obolibrary.org/obo/MONDO_0018681	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0033352	neuropathy, congenital hypomelinating	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0035133	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0015757	lymphoid hemopathy	http://purl.obolibrary.org/obo/MONDO_0002334	hematopoietic and lymphoid system neoplasm		
http://purl.obolibrary.org/obo/MONDO_0014414	STAT3-related early-onset multisystem autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000213	autoimmune disease, multisystem, infantile-onset		
http://purl.obolibrary.org/obo/MONDO_0015756	myeloid hemopathy	http://purl.obolibrary.org/obo/MONDO_0002334	hematopoietic and lymphoid system neoplasm		
http://purl.obolibrary.org/obo/MONDO_0035459	idiopathic multidrug-resistant nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0018170	idiopathic nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0031061	nephrotic syndrome, IIa 26	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0033262	nephrotic syndrome 15	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0033280	nephrotic syndrome 16	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0030895	nephrotic syndrome, type 22	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0030962	nephrotic syndrome, type 23	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0031008	nephrotic syndrome, type 24	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0026726	nephrotic syndrome, type 20	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032580	nephrotic syndrome, type 17	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032581	nephrotic syndrome, type 18	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032582	nephrotic syndrome, type 19	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032826	nephrotic syndrome, type 21	http://purl.obolibrary.org/obo/MONDO_0002350	familial nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0017783	congenital pancreatic cyst	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		
http://purl.obolibrary.org/obo/MONDO_0979284	acinar cystic transformation of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		
http://purl.obolibrary.org/obo/MONDO_0979310	lymphoepithelial cyst of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002356	pancreas disorder		
http://purl.obolibrary.org/obo/MONDO_0021078	glandular papilloma	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		
http://purl.obolibrary.org/obo/MONDO_0035357	portosinusoidal vascular disease	http://purl.obolibrary.org/obo/MONDO_0002405	hepatic vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0009381	hyperbilirubinemia, conjugated, type 3	http://purl.obolibrary.org/obo/MONDO_0002408	hereditary hyperbilirubinemia		
http://purl.obolibrary.org/obo/MONDO_0009383	transient familial neonatal hyperbilirubinemia	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		
http://purl.obolibrary.org/obo/MONDO_0009382	hyperbilirubinemia, shunt, primary	http://purl.obolibrary.org/obo/MONDO_0002408	hereditary hyperbilirubinemia		
http://purl.obolibrary.org/obo/MONDO_0017992	autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0016527	glycogen storage disease due to lactate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0002412	disorder of glycogen metabolism		
http://purl.obolibrary.org/obo/MONDO_0800302	glycogen storage disease Id	http://purl.obolibrary.org/obo/MONDO_0002413	glycogen storage disease I		
http://purl.obolibrary.org/obo/MONDO_0017591	combined pulmonary fibrosis-emphysema syndrome	http://purl.obolibrary.org/obo/MONDO_0002429	idiopathic interstitial pneumonia		
http://purl.obolibrary.org/obo/MONDO_0851100	malignant olfactory nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002433	malignant cranial nerve neoplasm		
http://purl.obolibrary.org/obo/MONDO_0030067	Treacher Collins syndrome 4	http://purl.obolibrary.org/obo/MONDO_0002457	Treacher-Collins syndrome		
http://purl.obolibrary.org/obo/MONDO_0014937	aniridia 2	http://purl.obolibrary.org/obo/MONDO_0007119	isolated aniridia		
http://purl.obolibrary.org/obo/MONDO_0011125	trichothiodystrophy 1, photosensitive	http://purl.obolibrary.org/obo/MONDO_0002470	photosensitive trichothiodystrophy		
http://purl.obolibrary.org/obo/MONDO_0014615	trichothiodystrophy 2, photosensitive	http://purl.obolibrary.org/obo/MONDO_0002470	photosensitive trichothiodystrophy		
http://purl.obolibrary.org/obo/MONDO_0014619	trichothiodystrophy 3, photosensitive	http://purl.obolibrary.org/obo/MONDO_0002470	photosensitive trichothiodystrophy		
http://purl.obolibrary.org/obo/MONDO_0040698	subacute bursitis	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0971154	hepatic cutaneous porphyria	http://purl.obolibrary.org/obo/MONDO_0002520	hepatic porphyria		
http://purl.obolibrary.org/obo/MONDO_0021655	secondary catabolic mucinosis of skin	http://purl.obolibrary.org/obo/MONDO_0002523	cutaneous mucinosis		
http://purl.obolibrary.org/obo/MONDO_0018432	lichen myxedematosus	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0014421	glucocorticoid resistance	http://purl.obolibrary.org/obo/MONDO_0015898	adrenogenital syndrome		
http://purl.obolibrary.org/obo/MONDO_0017748	inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis		
http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis	http://purl.obolibrary.org/obo/MONDO_0002525	inherited lipid metabolism disorder		
http://purl.obolibrary.org/obo/MONDO_0030037	neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis		
http://purl.obolibrary.org/obo/MONDO_0032822	developmental and epileptic encephalopathy, 80	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0017986	disorder of plasmalogens biosynthesis	http://purl.obolibrary.org/obo/MONDO_0100257	peroxisomal single enzyme/protein defect		
http://purl.obolibrary.org/obo/MONDO_0029140	glycosylphosphatidylinositol biosynthesis defect 18	http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis		
http://purl.obolibrary.org/obo/MONDO_0100251	familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0971056	ocular surface squamous neoplasia	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		
http://purl.obolibrary.org/obo/MONDO_0008705	lysosomal acid phosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease		
http://purl.obolibrary.org/obo/MONDO_0009296	glycoprotein storage disease	http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease		
http://purl.obolibrary.org/obo/MONDO_0017731	glycoproteinosis	http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease		
http://purl.obolibrary.org/obo/MONDO_0017736	disorder of sialic acid metabolism	http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease		
http://purl.obolibrary.org/obo/MONDO_0019246	inborn disorder of lysosomal amino acid transport	http://purl.obolibrary.org/obo/MONDO_0002561	lysosomal storage disease		
http://purl.obolibrary.org/obo/MONDO_0022025	boylan dew greco syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0021553	transverse myelitis	http://purl.obolibrary.org/obo/MONDO_0002565	myelitis		
http://purl.obolibrary.org/obo/MONDO_0015935	extragonadal germinoma	http://purl.obolibrary.org/obo/MONDO_0003113	extragonadal germ cell cancer		
http://purl.obolibrary.org/obo/MONDO_0022338	ALK+ histiocytosis	http://purl.obolibrary.org/obo/MONDO_0002637	histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0015855	isolated congenital breast hypoplasia/aplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0043166	pancreatic lipomatosis duodenal stenosis	http://purl.obolibrary.org/obo/MONDO_0021470	benign neoplasm of pancreas		
http://purl.obolibrary.org/obo/MONDO_0023286	graphite pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		
http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related	http://purl.obolibrary.org/obo/MONDO_0100137	telomere syndrome		
http://purl.obolibrary.org/obo/MONDO_0041959	fibrosis of bile duct	http://purl.obolibrary.org/obo/MONDO_0002887	bile duct disorder		
http://purl.obolibrary.org/obo/MONDO_0023263	glyceraldehyde-3-phosphate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0002908	glucose metabolism disease		
http://purl.obolibrary.org/obo/MONDO_0019278	hair anomaly	http://purl.obolibrary.org/obo/MONDO_0024481	skin appendage disorder		
http://purl.obolibrary.org/obo/MONDO_0016277	malignant mixed epithelial and mesenchymal tumor of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0002974	cervical cancer		
http://purl.obolibrary.org/obo/MONDO_0957048	isolated macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0003004	macular degeneration		
http://purl.obolibrary.org/obo/MONDO_0014501	macular degeneration, early-onset	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010456	renal cell carcinoma, Xp11-associated	http://purl.obolibrary.org/obo/MONDO_0017886	MIT family translocation renal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0980972	hypotrichosis 16	http://purl.obolibrary.org/obo/MONDO_0003037	hypotrichosis		
http://purl.obolibrary.org/obo/MONDO_0022841	congenital hypotrichosis milia	http://purl.obolibrary.org/obo/MONDO_0003037	hypotrichosis		
http://purl.obolibrary.org/obo/MONDO_0032649	hypotrichosis 14	http://purl.obolibrary.org/obo/MONDO_0003037	hypotrichosis		
http://purl.obolibrary.org/obo/MONDO_0859341	hypotrichosis 15	http://purl.obolibrary.org/obo/MONDO_0003037	hypotrichosis		
http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011201	tremor, hereditary essential, 2	http://purl.obolibrary.org/obo/MONDO_0003233	essential tremor		
http://purl.obolibrary.org/obo/MONDO_0012671	tremor, hereditary essential, 3	http://purl.obolibrary.org/obo/MONDO_0003233	essential tremor		
http://purl.obolibrary.org/obo/MONDO_0030027	tremor, hereditary essential, 6	http://purl.obolibrary.org/obo/MONDO_0003233	essential tremor		
http://purl.obolibrary.org/obo/MONDO_0033980	RELA fusion-positive ependymoma	http://purl.obolibrary.org/obo/MONDO_0003266	ependymal tumor		
http://purl.obolibrary.org/obo/MONDO_0043154	neonatal ovarian cyst	http://purl.obolibrary.org/obo/MONDO_0003282	ovarian cyst		
http://purl.obolibrary.org/obo/MONDO_0011056	Wilms tumor 4	http://purl.obolibrary.org/obo/MONDO_0003321	hereditary Wilms tumor		
http://purl.obolibrary.org/obo/MONDO_0979876	Wilms tumor 7	http://purl.obolibrary.org/obo/MONDO_0003321	hereditary Wilms tumor		
http://purl.obolibrary.org/obo/MONDO_0971123	isolated retinal racemose hemangioma	http://purl.obolibrary.org/obo/MONDO_0003343	retinal hemangioblastoma		
http://purl.obolibrary.org/obo/MONDO_0015374	primary central nervous system vasculitis	http://purl.obolibrary.org/obo/MONDO_0003346	central nervous system vasculitis		
http://purl.obolibrary.org/obo/MONDO_0008537	telecanthus	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		
http://purl.obolibrary.org/obo/MONDO_0024480	dermatosis of eyelid	http://purl.obolibrary.org/obo/MONDO_0003382	eyelid disorder		
http://purl.obolibrary.org/obo/MONDO_0971084	colonic duplication	http://purl.obolibrary.org/obo/MONDO_0003409	colonic disorder		
http://purl.obolibrary.org/obo/MONDO_0017822	mixed functioning pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0003429	functioning pituitary gland adenoma		
http://purl.obolibrary.org/obo/MONDO_0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	http://purl.obolibrary.org/obo/MONDO_0003538	precursor lymphoblastic lymphoma/leukemia		
http://purl.obolibrary.org/obo/MONDO_0010644	proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0007705	Heinz body anemia	http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia		
http://purl.obolibrary.org/obo/MONDO_0017164	hemolytic disease of the newborn with Kell alloimmunization	http://purl.obolibrary.org/obo/MONDO_0003664	hemolytic anemia		
http://purl.obolibrary.org/obo/MONDO_0012858	primary CD59 deficiency	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0859172	hemolytic disease of fetus and newborn, RH-induced	http://purl.obolibrary.org/obo/MONDO_0003689	familial hemolytic anemia		
http://purl.obolibrary.org/obo/MONDO_0957459	congenital esophageal stenosis	http://purl.obolibrary.org/obo/MONDO_0003749	esophageal disorder		
http://purl.obolibrary.org/obo/MONDO_0010625	immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0009464	immunodeficiency with defective T-cell response to interleukin 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010293	ectodermal dysplasia and immune deficiency	http://purl.obolibrary.org/obo/MONDO_0016535	hypohidrotic ectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0010514	combined immunodeficiency due to moesin deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0015708	immuno-osseous dysplasia	http://purl.obolibrary.org/obo/MONDO_0003778	inborn error of immunity		
http://purl.obolibrary.org/obo/MONDO_0979328	immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0979233	immunodysregulation with variable immunodeficiency and autoimmunity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033968	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0033969	inflammatory bowel disease-recurrent sinopulmonary infections syndrome	http://purl.obolibrary.org/obo/MONDO_0003778	inborn error of immunity		
http://purl.obolibrary.org/obo/MONDO_0014313	autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0015697	immunoglobulin heavy chain deficiency	http://purl.obolibrary.org/obo/MONDO_0003778	inborn error of immunity		
http://purl.obolibrary.org/obo/MONDO_0012594	complement factor I deficiency	http://purl.obolibrary.org/obo/MONDO_0003832	complement deficiency		
http://purl.obolibrary.org/obo/MONDO_0013487	recurrent Neisseria infections due to factor D deficiency	http://purl.obolibrary.org/obo/MONDO_0003832	complement deficiency		
http://purl.obolibrary.org/obo/MONDO_0015699	immunodeficiency due to a classical component pathway complement deficiency	http://purl.obolibrary.org/obo/MONDO_0003832	complement deficiency		
http://purl.obolibrary.org/obo/MONDO_0007038	Achoo syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007049	acroleukopathy, symmetric	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007050	acromegaloid changes, cutis verticis gyrata, and corneal leukoma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007066	adenosine triphosphatase deficiency, anemia due to	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007090	amastia, bilateral, with ureteral triplication and dysmorphism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007091	amelia and terminal transverse hemimelia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007096	amenorrhea-galactorrhea syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007102	amyotrophic dystonic paraplegia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007106	anal sphincter dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007107	anal sphincter myopathy, internal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007121	aniridia, microcornea, and spontaneously Reabsorbed cataract	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007128	annular erythema	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007132	anonychia-ectrodactyly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007133	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007144	aortic arch interruption, facial palsy, and retinal coloboma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007151	arms, malformation of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007155	arteritis, familial granulomatous, with juvenile polyarthritis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007156	arthritis, sacroiliac	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007162	asymmetric short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007178	aurocephalosyndactyly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007180	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007183	azotemia, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007197	bladder diverticulum	http://purl.obolibrary.org/obo/MONDO_0006026	urinary bladder disorder		
http://purl.obolibrary.org/obo/MONDO_0007199	blepharochalasis, superior	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007210	Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007228	brachymesomelia-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007234	branchial myoclonus with spastic paraparesis and cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007241	bundle branch block, familial isolated complete right	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007246	calcific aortic disease with immunologic abnormalities, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007253	cancer, familial, with in vitro Radioresistance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007260	Car factor deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007261	Carabelli anomaly of maxillary molar teeth	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007302	cervical hypertrichosis with underlying kyphoscoliosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007305	cervical vertebral dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007314	chemodectoma, intraabdominal, with cutaneous angiolipomas	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007328	choroidal osteoma, bilateral	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007357	colonic varices without portal hypertension	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007358	comedones, familial Dyskeratotic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007370	coracoclavicular joint, anomalous	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007371	cornea guttata with anterior polar cataracts	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007373	corneal degeneration, ribbonlike, with deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007393	cranioacrofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007398	craniorhiny	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007406	cryofibrinogenemia, familial primary	http://purl.obolibrary.org/obo/MONDO_0022904	cryofibrinogenemia		
http://purl.obolibrary.org/obo/MONDO_0007408	cryptotia, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007423	deafness, mid-tone neural	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007425	deafness, sensorineural, with peripheral neuropathy and arterial disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007426	deafness, unilateral	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007427	deafness with anhidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007431	dens in dente and palatal invaginations	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007433	dementia/parkinsonism with non-Alzheimer amyloid plaques	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007434	primary failure of tooth eruption	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007439	deoxyribose-5-phosphate aldolase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007444	dermal Ridges, patternless	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007456	diarrhea, glucose-stimulated secretory, with common variable immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007457	diastema, dental medial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007463	distal osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007465	distichiasis with congenital anomalies of the heart and peripheral vasculature	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007469	double nail for fifth toe	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007474	duodenal ulcer due to antral G-cell hyperfunction	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007475	duodenal ulcer, hyperpepsinogenemic 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007479	dwarfism, Levi type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007480	dwarfism with stiff joints and ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007491	dystelephalangy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007512	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007513	ectodermal dysplasia with adrenal cyst	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007515	ectopia pupillae	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007516	ectrodactyly and ectodermal dysplasia without cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007517	ectrodactyly-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007518	edema, familial idiopathic, prepubertal	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0007553	epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007557	epidermolysis bullosa with congenital localized absence of skin and deformity of nails	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007569	erythema nodosum, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007577	esophageal ring, lower	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007581	exchondrosis of pinna, posterior	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007597	factor VIII and Factor IX, combined deficiency of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007598	factors VIII, IX and XI, combined deficiency of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007599	factor 9 and Factor XI, combined deficiency of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007605	fibrinolytic defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007616	fibula, recurrent dislocation of head of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007625	focal epithelial hyperplasia of the oral mucosa	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007633	Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007634	intellectual disability, FRA12A type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007643	gamma-A-globulin, defect in assembly of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007647	gastric volvulus, intrathoracic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007654	genu valgum, st. Helena familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007668	globulin anomaly involving beta (2A)-globulin	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007673	Glucoglycinuria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007682	granddad syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007685	granulosis rubra nasi	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007687	graying of hair, precocious	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007694	hairy nose tip	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007695	hairy palms and soles	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007706	cavernous hemangiomas of face-supraumbilical midline raphe syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007715	hemolytic poikilocytic anemia due to reduced ankyrin binding sites	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007718	hepatic adenomas, familial	http://purl.obolibrary.org/obo/MONDO_0018902	hepatocellular adenoma		
http://purl.obolibrary.org/obo/MONDO_0007720	hernia, double inguinal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007722	heterochromia iridis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007730	histiocytic dermatoarthritis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007746	orthostatic hypotensive disorder, Streeten type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007752	hyperheparinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007755	hyperimmunoglobulin G1(A1) syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007760	hyperlipoproteinemia, type II, and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007765	hyperostosis cranialis interna	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007770	hyperpigmentation of Fuldauer and Kuijpers	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007773	hyperproglucagonemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007775	hypersecretion of adrenal androgens, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007777	hypotaurinemic retinal degeneration and cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007782	hyperthermia, cutaneous, with headaches and nausea	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007785	hyperthyroxinemia, dystransthyretinemic	http://purl.obolibrary.org/obo/MONDO_0005333	hyperthyroxinemia		
http://purl.obolibrary.org/obo/MONDO_0007789	hypertrophia musculorum vera	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007840	internal carotid artery, spontaneous dissection of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007849	keratitis fugax hereditaria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007855	keratosis, familial actinic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007873	lactic acidosis, chronic adult form	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007877	laryngeal adductor paralysis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007882	lattice degeneration of retina leading to retinal detachment	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007883	periodic fever, immunodeficiency, and thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007884	leg ulcers, familial, of juvenile onset	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007890	lentiginosis, centrofacial neurodysraphic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007898	leukocyte nuclear appendages, hereditary prevalence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007901	levator-medial rectus synkinesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007905	lip, hamartomatous	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007914	lumbar stenosis, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007923	macrocephaly, benign familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007945	mannose 6-phosphate receptor recognition defect, Lebanese type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007948	marfanoid hypermobility syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007951	masticatory muscles, hypertrophy of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007952	maxillofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007973	mental and growth retardation with amblyopia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007976	mesomelic dwarfism of hypoplastic tibia and radius type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007985	metatarsus varus, type 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007996	microphthalmia, isolated, with corectopia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007997	microspherophakia with hernia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008001	milia, multiple eruptive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008012	Monophalangy of great toe	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008020	multiple exostoses with spastic tetraparesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008022	muscle cramps, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008027	muscular atrophy, malignant neurogenic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008035	muscular hypoplasia, congenital universal, of Krabbe	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008052	myopathy with storage of glycoproteins and Glycosaminoglycans	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008063	nasal alar collapse, bilateral	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008064	nasal bones, absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008079	neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008084	neuropathy, congenital, with arthrogryposis multiplex	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008088	neuropathy, with paraprotein in serum, cerebrospinal fluid and urine	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008089	neutropenia, chronic familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008096	nevus flammeus of nape of neck	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008103	noduli Cutanei, multiple, with urinary tract abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008105	nose, anomalous shape of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008121	onychogryposis, pedal, with keratosis plantaris and coarse hair	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008128	ophthalmoplegia, familial static	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008129	ophthalmoplegia, familial total, with iris transillumination	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008140	ossified ear cartilages	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008141	ossicular malformations, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008160	osteosclerosis with ichthyosis and fractures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008166	ovalocytosis, hereditary hemolytic, with defective erythropoiesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008169	osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008186	pancytopenia and occlusive vascular disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008188	papillomatosis, confluent and reticulated	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008202	Parotidomegaly, hereditary bilateral	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008208	patella, familial recurrent dislocation of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008212	Pechet factor deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008216	pelvic lipomatosis with crossed renal ectopia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008229	peroneal nerve, accessory deep	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008232	phagocytosis, plasma-related defect 1N	http://purl.obolibrary.org/obo/MONDO_0024627	phagocytic cell dysfunction		
http://purl.obolibrary.org/obo/MONDO_0008235	pheochromocytoma-islet cell tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008236	phlebectasia of lips	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008240	6-phosphogluconolactonase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008242	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008248	pigmented purpuric eruption	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008253	platelet aggregation, spontaneous	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008254	platelet disorder, undefined	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008255	platelet factor 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008258	platelet signal processing defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008282	polyposis, intestinal, with multiple exostoses	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008284	polyposis of gastric fundus without polyposis coli	http://purl.obolibrary.org/obo/MONDO_0000147	polyposis		
http://purl.obolibrary.org/obo/MONDO_0008285	polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008299	posterior column ataxia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008307	presenile dementia, Kraepelin type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008308	priapism, familial idiopathic	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0008314	pronation-supination of the forearm, impairment of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008321	pruritus, hereditary localized	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008324	pseudoarthrogryposis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008325	Pseudoatrophoderma colli	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008330	pseudomonilethrix	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008336	pterygium colli, isolated	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008342	pubic bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008349	pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008352	pupillary membrane, persistence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008354	purpura simplex	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008356	radial heads, posterior dislocation of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008362	ragweed sensitivity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008363	raindrop hypopigmentation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008367	red cell phospholipid defect with hemolysis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008385	rhiny	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008391	Robinow-Sorauf syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008424	sella turcica, bridged	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008430	skeletal dysplasia with delayed epiphyseal and carpal bone ossification	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008441	spastic paraplegia with associated extrapyramidal signs	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008444	spastic paraplegia, optic atrophy, and dementia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008456	spinocerebellar ataxia with rigidity and peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008459	spinocerebellar atrophy with pupillary paralysis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008461	splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008463	split-hand and split-foot with hypodontia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008496	storm syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008500	striae distensae, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008506	symphalangism of toes	http://purl.obolibrary.org/obo/MONDO_0000151	symphalangism		
http://purl.obolibrary.org/obo/MONDO_0008508	symphalangism, C. S. Lewis type	http://purl.obolibrary.org/obo/MONDO_0000151	symphalangism		
http://purl.obolibrary.org/obo/MONDO_0008522	synovial chondromatosis, familial, with dwarfism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008524	syringomas, multiple	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008526	talonavicular coalition	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008530	teeth, odd shapes of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008543	tetralogy of fallot and glaucoma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008561	thumb deformity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008568	thyroid hormone plasma membrane transport defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008573	tibial torsion, bilateral medial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008584	torus palatinus and torus mandibularis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008589	tremor of intention, ataxia, and lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008595	trichoepitheliomas, multiple desmoplastic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008604	triphalangeal thumb with double phalanges	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008605	triphalangeal thumb, Nonopposable	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008613	Tuftsin deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008615	tune deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008623	Undritz anomaly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008626	ureter, bifid or double	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008635	uterine anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008649	venular insufficiency, systemic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008651	vertebral hypoplasia with lumbar kyphosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008655	vestibulocochlear dysfunction, progressive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008773	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008775	Amobarbital, deficient N-hydroxylation of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008776	amyloidosis of gingiva and conjunctiva, with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008778	amyloidosis, cutaneous bullous	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008793	angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008802	antithrombin, familial hemorrhagic diathesis due to	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008819	arteriosclerosis, severe juvenile	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008821	arthrogryposis, distal, with intellectual disability and characteristic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008835	asthma, short stature, and elevated IgA	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008836	ataxia with myoclonic epilepsy and presenile dementia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008837	ataxia, deafness, and cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008839	ataxia-microcephaly-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008844	Athrombia, essential	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008845	atonic-astatic syndrome of Foerster	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008859	berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008860	beta-aminoisobutyric acid, urinary excretion of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008868	biliary malformation with renal tubular insufficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008880	Bowen syndrome of multiple malformations	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008883	brachydactyly, type A2, with microcephaly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008886	Sabinas brittle hair syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008902	camptodactyly-ichthyosis syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008909	congenital disorder of glycosylation, type i/IIx	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008912	cardiac septal defects with coarctation of the aorta	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008914	cardioauditory syndrome of Sanchez Cascos	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008916	cardiomyopathy associated with myopathy and sudden death	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008920	carnitine deficiency, myopathic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008933	cephalin lipidosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008936	cerebellar ataxia and neurosensory deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008937	cerebellar ataxia, benign, with thermoanalgesia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008946	cerebral angiopathy, dysphoric	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008949	cerebral malformation, seizures, hypertrichosis, and overlapping fingers	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008951	cerebrocortical degeneration of infancy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008957	cervical vertebrae, agenesis of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008959	CHAND syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008968	cholestasis with gallstone, ataxia, and visual disturbance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008969	cholesterol pneumonia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008976	chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008983	chromosomal instability with tissue-specific radiosensitivity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008986	circumvallate placenta syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0008989	citrulline transport defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009013	convulsive disorder, familial, with prenatal or early onset	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009029	cranial nerves, congenital paresis of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009030	cranial nerves, recurrent paresis of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009037	craniosynostosis with anomalies of the cranial base and digits	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009040	craniosynostosis-intellectual disability syndrome of 51N and Gettig	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009057	cyanosis and hepatic disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009059	cysteine Peptiduria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009060	cystic disease of lung	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009077	deafness, congenital, and familial myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009087	deafness, neural, congenital moderate	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009088	deafness, neural, with atypical atopic dermatitis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009098	dextrocardia with unusual facies and microphthalmia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009102	diaminopentanuria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009118	disseminated sclerosis with narcolepsy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009122	Dohle bodies and leukemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009127	dwarfism, low-birth-weight type, with unresponsiveness to growth hormone	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009128	dwarfism, intellectual disability, and eye abnormality	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009129	dwarfism, proportionate, with hip dislocation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009132	dysautonomia-like disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009137	dysmyelination with jaundice	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009142	dystonia with Ringbinden	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009153	ectopia lentis et pupillae	http://purl.obolibrary.org/obo/MONDO_0015998	isolated ectopia lentis		
http://purl.obolibrary.org/obo/MONDO_0009163	encephalomalacia, multilocular	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009170	endocardial fibroelastosis and coarctation of abdominal aorta	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009171	endothelial dystrophy, congenital hereditary, with nail hypoplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009184	epidermolysis bullosa with diaphragmatic hernia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009186	epilepsy, photogenic, with spastic diplegia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009190	epiphyseal dysplasia of femoral head, myopia, and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009193	epithelial squamous dysplasia, keratinizing desquamative, of urinary tract	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009199	ethanolaminosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009201	facial abnormalities, kyphoscoliosis, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009208	faciothoracogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009225	fever, familial lifelong persistent	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009230	fibrosclerosis, multifocal	http://purl.obolibrary.org/obo/MONDO_0018848	IgG4-related retroperitoneal fibrosis		
http://purl.obolibrary.org/obo/MONDO_0009243	Fraser-like syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009246	Friedreich ataxia and congenital glaucoma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009248	fructose and galactose intolerance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009280	monosodium glutamate sensitivity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009298	GOMBO syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009305	granulocytopenia with immunoglobulin abnormality	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009311	grouped pigmentation of the retina	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009323	Halothane hepatitis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009328	hemangiomatosis, cutaneous, with associated features	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009343	Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009347	familial lipochrome histiocytosis	http://purl.obolibrary.org/obo/MONDO_0024627	phagocytic cell dysfunction		
http://purl.obolibrary.org/obo/MONDO_0009355	Hooft disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009358	Hutterite cerebroosteonephrodysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009374	hydroxyprolinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009385	hyperleucine-Isoleucinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009391	hypermetabolism due to defect in mitochondria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009392	hyperopia, high	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009396	hyperparathyroidism, neonatal self-limited primary, with hypercalciuria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009399	hyperphosphatemia, polyuria, and seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009403	hypertelorism and tetralogy of fallot	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009407	hypertrophic neuropathy and cataract	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009408	hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009415	hypoglycemia, leucine-induced	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009418	hypogonadism with low-grade mental deficiency and microcephaly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009422	hypohidrosis with abnormal palmar dermal Ridges	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009423	hypokalemic alkalosis, familial, with specific renal tubulopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009429	hypophosphatemia, renal, with intracerebral calcifications	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009432	hypopituitarism, congenital, with central diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009442	ichthyosis congenita with biliary atresia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009447	ichthyosis, split hairs, and amino aciduria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009460	indolylacroyl glycinuria with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009462	inosine phosphorylase deficiency, immune defect due to	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009487	keratoconus and congenital hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009488	keratoconus posticus circumscriptus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009497	Kifafa seizure disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009506	specific granule deficiency	http://purl.obolibrary.org/obo/MONDO_0024626	defective phagocytic cell engulfment		
http://purl.obolibrary.org/obo/MONDO_0009508	Lambotte syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009521	leukemia, acute myelocytic, with polyposis coli and colon cancer	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0009538	lymphoid system deterioration, progressive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009541	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009542	lysine malabsorption syndrome	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		
http://purl.obolibrary.org/obo/MONDO_0009545	macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009546	macrosomia adiposa congenita	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009555	malocclusion and short stature	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009559	mandibulofacial dysostosis with mental deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009560	oculotrichoanal syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0009573	megaepiphyseal dwarfism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009574	megalencephaly with dysmyelination	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009587	mesoaxial hexadactyly and cardiac malformation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009596	metaphyseal chondrodysplasia, Pena type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009600	metaphyseal dysplasia, anetoderma, and optic atrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009602	metaphyseal modeling abnormality, skin lesions, and spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009608	methionine malabsorption syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009619	microcephaly-micromelia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009632	microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009663	mucus inspissation of respiratory tract	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009674	muscular dystrophy, adult-onset, with leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009684	muscular hypertonia, lethal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009686	musk, inability to smell	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009694	myeloperoxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0024626	defective phagocytic cell engulfment		
http://purl.obolibrary.org/obo/MONDO_0009701	myopathy, granulovacuolar lobular, with electrical myotonia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009702	myopathy due to malate-aspartate shuttle defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009707	myopathy with giant abnormal mitochondria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009743	neurologic disease, infantile multisystem, with osseous fragility	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009750	neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009752	neuropathy, painful	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009765	ocular myopathy with curare sensitivity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009772	oculorenocerebellar syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009778	olivopontocerebellar atrophy II, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009781	Onychotrichodysplasia and neutropenia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009782	ophthalmoplegia totalis with ptosis and miosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009784	ophthalmoplegic neuromuscular disorder with abnormal mitochondria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009790	Opticocochleodentate degeneration	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009802	osteodysplasty, precocious, of Danks, Mayne, and Kozlowski	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009811	osteoma of middle ear	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009822	otoonychoperoneal syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0009828	palant cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009836	pancreatitis, sclerosing cholangitis, and sicca complex	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009840	Partington-Anderson syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009844	pellagra-like syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009851	peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009881	pituitary dwarfism with large sella turcica	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009882	plasma clot retraction factor, deficiency of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009884	platelet prostacyclin receptor defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009886	pleoconial myopathy with salt craving	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009888	polycystic kidney, cataract, and congenital blindness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009896	polymyoclonus, infantile	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009898	polysaccharide, storage of unusual	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009899	polyhydramnios, chronic idiopathic	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0009907	Prepapillary vascular loops	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009909	progesterone resistance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009911	prolactin deficiency, isolated	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009912	prolactin deficiency with obesity and enlarged testes	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009913	prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009922	Pseudouridinuria and mental defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009932	pulmonary bullae causing pneumothorax	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009939	pulmonic stenosis and congenital nephrosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009944	pyloric atresia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009951	radiculoneuropathy, fatal neonatal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009956	red skin pigment anomaly of new guinea	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009957	Reese retinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009961	renal and mullerian duct hypoplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009972	respiratory underresponsiveness to hypoxia and hypercapnia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009976	retinal degeneration and epilepsy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009980	retinal telangiectasia and hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009982	retinitis pigmentosa inversa with deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009986	retinopathy, pigmentary, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010000	rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010003	Rowley-Rosenberg syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010018	second metatarsal-metacarpal syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010025	short stature-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010032	Sjogren-Larsson-like ichthyosis without CNS or eye involvement	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010042	spastic diplegia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010048	spastic paraplegia with myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010054	spinal muscular atrophy with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010055	spinal muscular atrophy with microcephaly and mental subnormality	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010067	splenoportal vascular anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010084	sucrosuria, hiatus hernia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010093	syndesmodysplasic dwarfism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010109	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010112	thalamic degeneration, symmetric infantile	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010126	thymic aplasia with fetal death	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010141	tiglic acidemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010145	tibia, absence of, with congenital deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010157	Tryptophanuria with dwarfism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010163	Tyrosinosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010166	ulnar agenesis and endocardial fibroelastosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010175	van Bogaert-Hozay syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010189	vitiligo, progressive, with intellectual disability and urethral duplication	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010219	xylosidase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010260	arthrogryposis, congenital, lower limb, X-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010262	hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010276	radioulnar synostosis, radial ray abnormalities, and severe malformations in the male	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010312	radial ray deficiency, X-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010380	cataract, ataxia, short stature, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010381	Tn polyagglutination syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010416	deafness, cataract, retinitis pigmentosa, and sperm abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010439	cardiomyopathy, fatal fetal, due to myocardial calcification	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010552	Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010573	cutis verticis gyrata, thyroid aplasia, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010597	glutamyl ribose-5-phosphate storage disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010599	granulomas, congenital cerebral	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010608	Hhhh syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010634	jaundice, familial obstructive, of infancy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010636	Kallmann syndrome with spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010673	modifier, X-linked, for Neurofunctional defects	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010697	ophthalmoplegia, external, and myopia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010700	optic atrophy--spastic paraplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010707	Paine syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010719	radiation sensitivity of natural killer activity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010721	reticuloendotheliosis, X-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010734	spatial visualization, aptitude for	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010740	taurodontism, microdontia, and dens invaginatus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010744	thrombocytopenia with elevated serum IgA and renal disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010757	widow's peak syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010769	hairy ears, Y-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010776	hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010793	nephropathy, chronic tubulointerstitial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010812	macrocytosis, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010813	pancreatic beta cell agenesis with neonatal diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010871	succinic acidemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010874	enteropathy, familial, with villous edema and immunoglobulin G2 deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010875	pachydermodactyly, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010904	setting-Sun phenomenon, familial benign	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010919	varicella, severe recurrent	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010928	dwarfism, familial, with muscle spasms	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010955	ectodermal dysplasia with intellectual disability and syndactyly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010956	enamel hypoplasia, cataracts, and aqueductal stenosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010970	cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010978	portal vein, cavernous transformation of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010980	midline malformations, multiple, with limb abnormalities and hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010982	ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011005	trisomy 18-like syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011009	muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011039	atrophia maculosa varioliformis cutis, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011040	spinal dysplasia, Anhalt type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011043	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011044	ectrodactyly of lower limbs, congenital heart defect, and micrognathia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011069	cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011077	microcephaly, corpus callosum dysgenesis, and cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011100	microcephaly, retinitis pigmentosa, and sutural cataract	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011115	spastic paraplegia and Evans syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011117	iris pigment epithelium anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011130	sebaceous gland hyperplasia, familial presenile	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011135	superior transverse scapular ligament, calcification of, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011150	acroosteolysis-keloid-like lesions-premature aging syndrome	http://purl.obolibrary.org/obo/MONDO_0019303	premature aging syndrome		
http://purl.obolibrary.org/obo/MONDO_0011155	vacuolar Neuromyopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011172	otofacioosseous-gonadal syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011180	broad terminal phalanges, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011205	medium chain 3-ketoacyl-Coa thiolase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011206	ventriculomegaly with defects of the radius and kidney	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011212	sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011221	Weyers ulnar ray/oligodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011228	creases, infra-auricular cutaneous, with tall stature and advanced bone age	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011241	pseudoacromegaly with severe insulin resistance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011247	jejunal atresia with renal adysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011250	microcephaly, macrotia, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011251	facial dysmorphism, cleft palate, hearing loss, and camptodactyly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011254	brachydactyly, intraventricular septal defect, and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011256	emphysema, congenital, with deafness, penoscrotal web, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011263	skeletal dysplasia and progressive central nervous system degeneration, lethal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011267	intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011288	spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011290	dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011306	muscular dystrophy, congenital, with cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011309	familial gestational hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/MONDO_0011315	Osebold skeletal dysplasia/osteolysis syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011316	osteosclerotic chondrodysplasia, lethal, with intracellular inclusions	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011317	microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011318	Tonoki syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011321	expansile bone lesions	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011322	Oroacral syndrome, Verloes-Koulischer type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011341	microcephaly, facial abnormalities, micromelia, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011343	follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011344	parotitis, juvenile recurrent	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011345	facial dysmorphism, selective tooth agenesis, and choroid calcification	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011349	osteoma of cranial vault, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011352	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011353	atrial septal defect, secundum, with various cardiac and Noncardiac defects	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011356	exostosis, Dupuytren subungual	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011357	eccrine syringofibroadenomatosis with eyelid abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011358	blue nevi, familial multiple	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011406	cholesteatoma, congenital	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011410	Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011419	camera-Marugo-Cohen syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011433	anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011446	myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011453	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011455	lissencephaly, familial, with cleft palate and cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011478	growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011483	polycystic bone disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011492	mandibulofacial dysostosis syndrome, Bauru type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011494	hyaluronan metabolism, defect 1N	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011507	diabetes mellitus, congenital autoimmune	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011511	clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011538	frontoocular syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011550	fibromatosis, gingival, with hypertrichosis and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011574	tetralogy of fallot syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011590	anisomastia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011611	short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011617	arthropathy, erosive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011618	liver fibrocystic disease and polydactyly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011619	crumpled helices and small mouth	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011626	acromegaloid features, overgrowth, cleft palate, and hernia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011637	Sener syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011646	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011651	intellectual disability, short stature, facial anomalies, and joint dislocations	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011654	intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011677	Megarbane syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011726	peripheral arterial occlusive disease 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011733	parasomnia, sleep bruxism type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011734	Cardioneuromyopathy with hyaline masses and nemaline rods	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011736	Cree intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011745	duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011746	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011779	laryngeal atresia, encephalocele, and limb deformities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011798	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011836	thyroid Hurthle cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005034	thyroid gland follicular carcinoma		
http://purl.obolibrary.org/obo/MONDO_0011853	Camptosynpolydactyly, complex	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011854	secretory diarrhea, myopathy, and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011858	spastic paraplegia, ataxia, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011867	microphthalmia with cyst, bilateral facial clefts, and limb anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011887	cataract, congenital, with mental impairment and dentate gyrus atrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011922	nonimmune chronic idiopathic neutropenia of adults	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0011949	Thai symphalangism syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011958	bile and pancreatic ducts, complete absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011973	zinc deficiency, transient neonatal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012001	mandibulofacial dysostosis with ptosis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012005	growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012007	scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012047	alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012068	brachial palsy, familial congenital	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012075	oligodontia-cancer predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012076	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012107	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012129	leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012131	metaphyseal undermodeling, spondylar dysplasia, and overgrowth	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		
http://purl.obolibrary.org/obo/MONDO_0012133	lateral semicircular canal malformation, familial, with external and middle ear abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012171	marfanoid habitus with situs inversus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012174	peripheral cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012178	intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012182	skeletal dysplasia, rhizomelic, with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012207	umbilicus, familial flat	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012223	hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012242	syncope, familial vasovagal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012272	intellectual disability, keratoconus, febrile seizures, and sinoatrial block	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012283	cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012284	nephropathy, progressive, with deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012288	iridogoniodysgenesis and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012298	omphalocele, diaphragmatic hernia, and radial ray defects	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012311	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012325	Nguyen syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012329	short stature and Facioauriculothoracic malformations	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012347	hamartoma, Precalcaneal congenital fibrolipomatous	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012352	vasculitis, lymphocytic, cutaneous small vessel	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012373	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012374	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012385	metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012386	trichoscyphodysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012390	arthrogryposis multiplex with deafness, inguinal hernias, and early death	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012397	brachydactyly, coloboma, and anterior segment dysgenesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012416	Devriendt syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012468	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012473	right pulmonary artery, anomalous origin of, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012486	preauricular tag, isolated, autosomal dominant, 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012494	testicular microlithiasis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012535	holoprosencephaly, recurrent infections, and monocytosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012558	epiphyseal dysplasia, Baumann type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012564	Polyosteolysis-hyperostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012572	Sakoda complex	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012657	Mungan syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012692	renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012711	peripapillary atrophy, beta type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012722	Dauwerse-Peters syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012732	tremor, hereditary essential, and idiopathic normal pressure hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0012749	mesomelic dysplasia, camera type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012772	Stevenson-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012773	Hunter-Macdonald syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012795	hypophosphatemic rickets and hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012798	deafness, unilateral, with delayed endolymphatic hydrops	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012814	diastasis recti and weakness of the linea alba	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012865	Pseudofolliculitis barbae	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012909	skeletal defects, genital hypoplasia, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012998	faciocardiomelic syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013004	hypotonia, seizures, and precocious puberty	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013009	Megarbane-Jalkh syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013037	Giacheti syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013054	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013055	Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013077	Santos syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013149	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013214	bile acid malabsorption, primary, 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013473	Hirschsprung disease, cardiac defects, and autonomic dysfunction	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013483	obesity, hyperphagia, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013493	acetyl-coa carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013535	hydroxyacyl glutathione hydrolase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013548	acetyl-CoA acetyltransferase-2 deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013663	platelet-activating factor acetylhydrolase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014415	kallikrein, decreased urinary activity of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014535	hyperproinsulinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0016641	limb transversal defect-cardiac anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0018046	thrombocytopenia-Robin sequence syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0018237	acrofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0009390	hyperlysinuria with hyperammonemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009457	immunoglobulin d level in plasma, low	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009463	internal carotid arteries, hypoplasia of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009472	acetylation, slow	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009474	isovaleric acid, inability to smell	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009481	Jumping Frenchmen of Maine	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009496	Kniest-like dysplasia with pursed lips and ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009551	magnesium, elevated red cell	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009766	oculocerebral hypopigmentation syndrome of Preus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009788	optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009791	oral sensibility, disturbance of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009850	periodontitis, chronic, adult	http://purl.obolibrary.org/obo/MONDO_0005593	chronic periodontitis		
http://purl.obolibrary.org/obo/MONDO_0009854	peroneus tertius muscle, absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009860	phenformin 4-hydroxylation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0009938	pulmonic stenosis	http://purl.obolibrary.org/obo/MONDO_0017865	congenital pulmonary valve stenosis		
http://purl.obolibrary.org/obo/MONDO_0010022	senile plaque formation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010037	sodium-potassium-ATPase activity of red cell	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010040	ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010096	tardive dyskinesia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010103	teeth, fused	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010106	testes, rudimentary	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010124	thumb, distal hyperextensibility of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010147	tongue, pigmented fungiform papillae of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010158	T-substance anomaly	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010244	CGF1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010267	episodic muscle weakness, X-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010516	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0010263	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		
http://purl.obolibrary.org/obo/MONDO_0010536	tubulin, beta	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010546	central incisors, absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010605	hemopoietic proliferation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010623	ichthyosis and male hypogonadism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010628	immunoglobulin M, level of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010629	impacted teeth, multiple	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010630	imprinting gene related to retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010681	myelolymphatic insufficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010692	nuclear ribonucleic acid	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010695	occipital hair, white lock of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010696	omphalocele, X-linked	http://purl.obolibrary.org/obo/MONDO_0019015	omphalocele		
http://purl.obolibrary.org/obo/MONDO_0010739	Taqi polymorphism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010746	thumbs, congenital Clasped	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010751	unique green phenomenon	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010770	ubiquitin-activating enzyme, Y-linked	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010777	cardiomyopathy, infantile hypertrophic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010784	chloramphenicol toxicity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010872	parotid salivary glands, polycystic dysgenetic disease of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010937	isoproterenol-mediated vasodilatation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010944	mitochondrial import-stimulating factor	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0010960	protocadherin 3	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011000	guanylate cyclase 2E	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011029	myeloid tumor suppressor	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011030	epithelial basolateral chloride conductance regulator, rabbit, homolog of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011042	Martinez-Frias syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011126	acute insulin response	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0011161	sperm-specific antigen 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011210	mitochondrial intermembrane space protein Tim12, yeast, homolog of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0020099	inherited sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0015194	sideroblastic anemia		
http://purl.obolibrary.org/obo/MONDO_0016604	dysraphism-cleft lip/palate-limb reduction defects syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0017981	syngnathia-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0018601	autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		
http://purl.obolibrary.org/obo/MONDO_0020792	dwarfism with tall vertebrae	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0100247	multiple congenital anomalies-hypotonia-seizures syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0023880	WHIM syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0023961	visceral neuropathy, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0024189	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0024193	portal hypertension, noncirrhotic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0800198	alopecia universalis	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		
http://purl.obolibrary.org/obo/MONDO_0800296	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0800299	myopathy, congenital, with excess of muscle spindles	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0800310	pregnancy loss, recurrent, 4	http://purl.obolibrary.org/obo/MONDO_0000144	pregnancy loss, recurrent, susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800408	urogenital adysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0800412	yakut short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957204	autoinflammation with pulmonary and cutaneous vasculitis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957210	neurooculorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957260	combined low LDL and fibrinogen	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957268	hypersulfaturia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957307	woolly hair-skin fragility syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957497	disabling pansclerotic morphea of childhood	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0020629	microcephaly, growth restriction and increased sister chromatid exchange	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031415	Carey-Fineman-Ziter syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031632	developmental delay with short stature, dysmorphic facial features, and sparse hair	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0971173	autoinflammation with arthritis and vasculitis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011282	tumor suppressor gene on chromosome 11	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011289	apraxia of eyelid opening	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011310	long chain fatty acids, defect in transport of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011332	Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011404	Caronte	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011509	low density lipoprotein cholesterol, mild elevation of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011516	early response to neural induction gene	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011594	ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011641	baculum, congenital absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011714	partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011751	COPD, severe early onset	http://purl.obolibrary.org/obo/MONDO_0005002	chronic obstructive pulmonary disease		
http://purl.obolibrary.org/obo/MONDO_0011796	epilepsy, partial, with pericentral spikes	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011825	streptococcus, group A, severity of infection by	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011848	headache associated with sexual activity	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011861	breath-holding Spells	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011863	prostate cancer aggressiveness quantitative trait locus on chromosome 19	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0011993	aspirin resistance	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012038	speech-sound disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012218	dandy-walker malformation with occipital cephalocele, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012328	trichilemmal cyst	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012428	kyphoscoliosis 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012451	esophagitis, eosinophilic, 1	http://purl.obolibrary.org/obo/MONDO_0005361	eosinophilic esophagitis		
http://purl.obolibrary.org/obo/MONDO_0012524	corticosterone methyloxidase type 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0018541	familial hypoaldosteronism		
http://purl.obolibrary.org/obo/MONDO_0012550	iris pattern	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012668	Tented eyebrows	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0012687	familial cavitary optic disk anomaly	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0012712	dystonia with cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013194	Pseudopili annulati	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013245	syndromic multisystem autoimmune disease due to ITCH deficiency	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013251	Birbeck granule deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013260	esophagitis, eosinophilic, 2	http://purl.obolibrary.org/obo/MONDO_0005361	eosinophilic esophagitis		
http://purl.obolibrary.org/obo/MONDO_0013318	early repolarization associated with ventricular fibrillation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013319	chromosome 4Q32.1-q32.2 triplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016955	partial duplication of the long arm of chromosome 4		
http://purl.obolibrary.org/obo/MONDO_0013321	forsythe-wakeling syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013330	agenesis of the corpus callosum and congenital lymphedema	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013332	brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013335	tuberculin skin test reactivity, absence of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013353	intellectual disability, anterior maxillary protrusion, and strabismus	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013362	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013374	supernumerary der(22)t(8;22) syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013462	fucosyltransferase 6 deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0015525	congenital pseudoarthrosis of the limbs	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		
http://purl.obolibrary.org/obo/MONDO_0020606	sex-linked disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0020647	microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0020736	uncombable hair syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008621	uncombable hair syndrome		
http://purl.obolibrary.org/obo/MONDO_0958237	isolated hyperferritinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0980757	periodontitis, aggressive	http://purl.obolibrary.org/obo/MONDO_0005593	chronic periodontitis		
http://purl.obolibrary.org/obo/MONDO_0980732	Pitt-Hopkins or Pitt-Hopkins-like syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0979360	ADNP-related blepharophimosis-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0017393	blepharophimosis - intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0980727	developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0980728	developmental delay with sleep apnea	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0980746	intellectual developmental disorder, autosomal recessive 84	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0980748	intellectual developmental disorder, autosomal dominant 77	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0980763	dental radicular dysplasia	http://purl.obolibrary.org/obo/MONDO_0006999	tooth disorder		
http://purl.obolibrary.org/obo/MONDO_0980942	intellectual developmental disorder with seizures and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0022113	central centrifugal cicatricial alopecia	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		
http://purl.obolibrary.org/obo/MONDO_0023003	double fingernail of fifth finger	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0023099	FRAXD syndrome	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		
http://purl.obolibrary.org/obo/MONDO_0023121	familial partial paralysis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0957317	hematuria, benign familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030012	Diets-Jongmans syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030018	autoinflammation with episodic fever and lymphadenopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030026	retinal dystrophy with leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030029	skeletal dysplasia, mild, with joint laxity and advanced bone age	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030030	Nizon-Isidor syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030033	seizures, early-onset, with neurodegeneration and brain calcifications	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030035	leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030036	leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030042	proteinuria, chronic benign	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030047	microcephaly, developmental delay, and brittle hair syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030049	46,xx sex reversal 5	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030051	intellectual developmental disorder with autistic features and language delay, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030057	neurodevelopmental, jaw, eye, and digital syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030065	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030071	retinitis pigmentosa 89	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030074	spondylometaphyseal dysplasia with corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030639	Teebi hypertelorism syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030796	leukoencephalopathy, hereditary diffuse, with spheroids	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031115	dyskinesia with orofacial involvement	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031400	Tessadori-Van-Haaften neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0800031	central hypoventilation syndrome, congenital	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031646	Braddock-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031200	Bryant-Li-Bhoj neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033532	Suleiman-El-Hattab syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033543	cone-rod synaptic disorder syndrome, congenital nonprogressive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033544	Tolchin-Le Caignec syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033547	Li-Ghorbani-Weisz-Hubshman syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033558	autoinflammation, immune dysregulation, and eosinophilia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033559	intellectual developmental disorder with seizures and language delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033560	mitochondrial complex 1 deficiency, nuclear type 35	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033561	deeah syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033569	combined oxidative phosphorylation deficiency 49	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033570	combined oxidative phosphorylation deficiency 50	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0100209	X inactivation, familial skewed	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0100210	growth hormone insensitivity syndrome with immune dysregulation	http://purl.obolibrary.org/obo/MONDO_0015892	growth hormone insensitivity syndrome		
http://purl.obolibrary.org/obo/MONDO_0033618	Vissers-Bodmer syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033621	spinal muscular atrophy, infantile, James type	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033640	vitamin D-dependent rickets, type 3	http://purl.obolibrary.org/obo/MONDO_0024299	vitamin D-dependent rickets		
http://purl.obolibrary.org/obo/MONDO_0033641	cleft palate, proliferative retinopathy, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0033644	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031280	Stuve-Wiedemann syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0042605	Y chromosome infertility due to DAZ1 deletion	http://purl.obolibrary.org/obo/MONDO_0015607	partial chromosome Y deletion		
http://purl.obolibrary.org/obo/MONDO_0044302	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0044303	congenital heart defects and ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0044316	thrombocytopenia, anemia, and myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0044321	structural heart defects and renal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0044738	Gabriele de Vries syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0020774	Menke-Hennekam syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0968982	autoinflammation with episodic fever and immune dysregulation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0000023	infantile liver failure	http://purl.obolibrary.org/obo/MONDO_0100192	liver failure		
http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous	http://purl.obolibrary.org/obo/MONDO_0018612	congenital hypothyroidism		
http://purl.obolibrary.org/obo/MONDO_0000111	camptodactyly syndrome, Guadalajara	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0000114	cerebelloparenchymal disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0000213	autoimmune disease, multisystem, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0030835	developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030849	intellectual developmental disorder with speech delay and axonal peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030871	vertebral hypersegmentation and orofacial anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030873	cardiofacioneurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030878	Kaya-Barakat-Masson syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030893	leukoencephalopathy, progressive, infantile-onset, with or without deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030897	Lessel-Kreienkamp syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030900	intellectual developmental disorder with paroxysmal dyskinesia or seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030963	Li-Campeau syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030966	neurofacioskeletal syndrome with or without renal agenesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030967	deafness, congenital, and adult-onset progressive leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030976	oculomotor-abducens synkinesis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030986	blistering, acantholytic, of oral and laryngeal mucosa	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030987	vertebral, cardiac, tracheoesophageal, renal, and limb defects	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030988	developmental delay with dysmorphic facies and dental anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030990	Kohlschutter-Tonz syndrome-like	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030991	bile acid conjugation defect 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030992	short stature, oligodontia, dysmorphic facies, and motor delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0030995	global developmental delay with speech and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031001	vitreoretinopathy with phalangeal epiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031002	Baralle-Macken syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031439	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0100328	microcephaly, epilepsy, and diabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031432	thyroid hormone metabolism, abnormal	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0957599	epilepsy, early-onset	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0975955	autoinflammation, panniculitis, and dermatosis syndrome	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		
http://purl.obolibrary.org/obo/MONDO_0976136	ocular pterygium-digital keloid dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0026722	Mullegama-Klein-Martinez syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0026727	Shukla-Vernon syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032565	ophthalmoplegia, external, with rib and vertebral anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032568	intellectual developmental disorder with macrocephaly, seizures, and speech delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032574	osteochondrodysplasia, brachydactyly, and overlapping malformed digits	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032579	warburg-cinotti syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032600	Snijders Blok-Campeau syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032601	inflammatory bowel disease, immunodeficiency, and encephalopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032607	vertebral anomalies and variable endocrine and T-cell dysfunction	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032642	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032645	trichohepatoneurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032648	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032653	cardiac-urogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032655	visual impairment and progressive phthisis bulbi	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032656	microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032658	macrocephaly, acquired, with impaired intellectual development	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032659	mucocutaneous ulceration, chronic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032680	global developmental delay with or without impaired intellectual development	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032685	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032687	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032688	polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032690	microcephaly, growth deficiency, seizures, and brain malformations	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032703	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		
http://purl.obolibrary.org/obo/MONDO_0032707	turnpenny-fry syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032714	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032716	leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0032733	global developmental delay, progressive ataxia, and elevated glutamine	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032736	metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032738	gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032759	intellectual developmental disorder with short stature and variable skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032760	developmental delay with or without dysmorphic facies and autism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032764	Khan-Khan-Katsanis syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032774	cerebellar, ocular, craniofacial, and genital syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032780	hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032781	congenital hypotonia, epilepsy, developmental delay, and digital anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032788	cerebellar atrophy with seizures and variable developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032793	O'Donnell-Luria-Rodan syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032798	ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032805	hypopigmentation, organomegaly, and delayed myelination and development	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032824	glycosylphosphatidylinositol biosynthesis defect 21	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032828	spastic tetraplegia and axial hypotonia, progressive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032830	snijders blok-fisher syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032832	intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032833	lower urinary tract obstruction, congenital	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032841	Usher syndrome, type 1M	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032842	Siddiqi syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032843	oculopharyngeal myopathy with leukoencephalopathy 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032850	neurooculocardiogenitourinary syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032851	intellectual developmental disorder with impaired language and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032862	hydrocephalus, congenital communicating, 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032864	intellectual developmental disorder with speech delay, autism, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032868	lessel-kubisch syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032870	intellectual developmental disorder with short stature and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032875	short stature and microcephaly with genital anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032879	megabladder, congenital	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032882	Heyn-Sproul-Jackson syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032883	intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032884	ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032886	Liang-Wang syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032890	neuromuscular disease and ocular or auditory anomalies with or without seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032892	structural brain anomalies with impaired intellectual development and craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032893	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032897	intellectual developmental disorder with hypotonia and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032901	Catifa syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032908	CEBALID syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032913	congenital heart defects, multiple types, 7	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032916	Imagawa-Matsumoto syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032920	juvenile arthritis due to defect in LACC1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032922	Beck-Fahrner syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032925	respiratory papillomatosis, juvenile recurrent, congenital	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032926	sandestig-stefanova syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032927	triokinase and FMN cyclase deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032928	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032930	intellectual developmental disorder with poor growth and with or without seizures or ataxia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032931	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032933	chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0017012	partial duplication of the short arm of chromosome 1		
http://purl.obolibrary.org/obo/MONDO_0032934	genitourinary and/or brain malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0032935	rhizomelic limb shortening with dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0031323	cardiac valvular defect	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859156	dysostosis multiplex, Ain-Naz type	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		
http://purl.obolibrary.org/obo/MONDO_0859167	hypokalemic tubulopathy and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859170	retinal dystrophy and microvillus inclusion disease	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859184	ventriculomegaly and arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859231	macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859248	corneal dystrophy, punctiform and polychromatic pre-descemet	http://purl.obolibrary.org/obo/MONDO_0018102	corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0859254	hepatorenocardiac degenerative fibrosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859273	liver disease, severe congenital	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		
http://purl.obolibrary.org/obo/MONDO_0859281	intellectual developmental disorder with autism and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859302	hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859322	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859336	muscular dystrophy, congenital, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859370	respiratory infections, recurrent, and failure to thrive with or without diarrhea	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0975810	short stature with nonspecific skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0020718	congenital short bowel syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014097	congenital short bowel syndrome		
http://purl.obolibrary.org/obo/MONDO_0020937	contractures, pterygia, and variable skeletal fusions syndrome	http://purl.obolibrary.org/obo/MONDO_0017415	multiple pterygium syndrome		
http://purl.obolibrary.org/obo/MONDO_0975835	bronchiectasis and nasal polyposis	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		
http://purl.obolibrary.org/obo/MONDO_0975951	spastic paraplegia, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007054	acromial dimples	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007153	arteries, anomalies of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007175	PR interval, variation in	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007192	beta-amino acids, renal transport of	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007206	bone pain, periodic	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007229	Brachymetatarsus 4	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007242	butyrylesterase 1	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007258	canine teeth, absence of upper permanent	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007274	carpal displacement	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007304	cervical vertebral Bridge	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007323	Chondronectin	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0007359	commissural lip pits	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013488	lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013497	Okt4 epitope deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013511	cyanosis, transient neonatal	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013532	protein Z deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013543	trypsinogen deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013549	N-acetylaspartate deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013564	anhaptoglobinemia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013575	plasma fibronectin deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013614	hypertelorism-preauricular sinus-punctual pits-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013618	craniofacial anomalies and anterior segment dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013660	arthrogryposis, Perthes disease, and upward gaze palsy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013680	cognitive impairment with or without cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013732	glucocorticoid therapy, response to	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013771	transient infantile hypertriglyceridemia and hepatosteatosis	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		
http://purl.obolibrary.org/obo/MONDO_0013772	Huppke-Brendel syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013787	psychomotor retardation, epilepsy, and craniofacial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013793	encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013856	hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0013857	alar cleft, isolated	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014008	phosphohydroxylysinuria	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014205	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014238	severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014255	complement factor b deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014274	L-ferritin deficiency	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		
http://purl.obolibrary.org/obo/MONDO_0014404	Webb-Dattani syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014553	Tenorio syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014563	mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0044970	mitochondrial disease		
http://purl.obolibrary.org/obo/MONDO_0014643	congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014698	microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0014741	DeSanto-Shinawi syndrome due to WAC point mutation	http://purl.obolibrary.org/obo/MONDO_0018760	DeSanto-Shinawi syndrome		
http://purl.obolibrary.org/obo/MONDO_0014766	leukodystrophy and acquired microcephaly with or without dystonia;	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect	http://purl.obolibrary.org/obo/MONDO_0005047	infertility disorder		
http://purl.obolibrary.org/obo/MONDO_0014778	Lamb-Shaffer syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014795	exercise intolerance, riboflavin-responsive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014816	split-foot malformation-mesoaxial polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0014833	heart and brain malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014839	chorea, childhood-onset, with psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014850	retinitis pigmentosa and erythrocytic microcytosis	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014863	macrocephaly, dysmorphic facies, and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014918	tall stature-intellectual disability-renal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014931	Alazami-Yuan syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014936	ZTTK syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014948	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014956	Chitayat syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014957	language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014963	Shashi-Pena syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014973	sudden cardiac failure, infantile	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014974	sudden cardiac failure, alcohol-induced	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014980	cone-rod dystrophy and hearing loss	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014984	lung disease, immunodeficiency, and chromosome breakage syndrome;	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0014994	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0015014	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0015021	hypotonia, ataxia, and delayed development syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0015232	radial deficiency-tibial hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0016024	shoulder and thorax deformity-congenital heart disease syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0019182	inherited obesity	http://purl.obolibrary.org/obo/MONDO_0011122	obesity disorder		
http://purl.obolibrary.org/obo/MONDO_0029131	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0029143	intellectual developmental disorder with hypertelorism and distinctive facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0100250	46,XX sex reversal 1	http://purl.obolibrary.org/obo/MONDO_0100249	46,XX testicular disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0031386	cardioacrofacial dysplasia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859046	rhabdomyosarcoma, embryonal, 2	http://purl.obolibrary.org/obo/MONDO_0005212	rhabdomyosarcoma		
http://purl.obolibrary.org/obo/MONDO_0859139	blepharophimosis-impaired intellectual development syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859144	Buratti-Harel syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859146	growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859158	ataxia, intention tremor, and hypotonia syndrome, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859159	deafness, cataract, impaired intellectual development, and polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859161	onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859163	Faundes-Banka syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859164	osteootohepatoenteric syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859169	White-Kernohan syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859171	Luo-Schoch-Yamamoto syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859174	Usmani-Riazuddin syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859177	VISS syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859178	developmental delay, impaired speech, and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859180	bile acid malabsorption, primary, 2	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859181	DEGCAGS syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859186	Chopra-Amiel-Gordon syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859189	muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859190	neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859191	biliary, renal, neurologic, and skeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859194	Boudin-Mortier syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859196	Usmani-Riazuddin syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859197	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859198	short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859199	developmental delay with or without intellectual impairment or behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859200	cerebellar ataxia, brain abnormalities, and cardiac conduction defects	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859202	developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859204	fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859208	Hengel-Maroofian-Schols syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859209	Zaki syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859215	dystonia, early-onset, and/or spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859218	developmental delay with variable neurologic and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859219	Rauch-Steindl syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859224	intellectual disability and myopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859229	cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859230	Kury-Isidor syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859240	intellectual developmental disorder with or without peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859244	phosphoribosylaminoimidazole carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859247	neurocardiofaciodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859253	osteoporosis, childhood- or juvenile-onset, with developmental delay	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859263	developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859276	primordial dwarfism-immunodeficiency-lipodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859277	intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859278	keratoderma-ichthyosis-deafness syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859280	developmental delay, hypotonia, and impaired language	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859288	bone marrow failure and diabetes mellitus syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859292	developmental delay, behavioral abnormalities, and neuropsychiatric disorders	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859303	intellectual developmental disorder with ocular anomalies and distinctive facial features	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859306	developmental delay with variable intellectual disability and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859324	developmental delay, language impairment, and ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859331	Rabin-Pappas syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859351	obesity and hypopigmentation	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859369	joint contractures, osteochondromas, and B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859375	developmental delay with hypotonia, myopathy, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0859393	Atelis syndrome	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0800450	microcephaly, short stature, and impaired glucose metabolism	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0700293	WFS1-related disorder	http://purl.obolibrary.org/obo/MONDO_0003847	hereditary disease		
http://purl.obolibrary.org/obo/MONDO_0016663	overlapping connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0024863	small size posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0003927	posterior uveal melanoma		
http://purl.obolibrary.org/obo/MONDO_0024864	medium/large size posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0003927	posterior uveal melanoma		
http://purl.obolibrary.org/obo/MONDO_0957432	neonatal compartment syndrome	http://purl.obolibrary.org/obo/MONDO_0004001	compartment syndrome		
http://purl.obolibrary.org/obo/MONDO_0020658	infiltrating ureter transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004030	ureter transitional cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0010105	teratoma, pineal	http://purl.obolibrary.org/obo/MONDO_0004015	pineal region teratoma		
http://purl.obolibrary.org/obo/MONDO_0016800	mitochondrial membrane transport disorder	http://purl.obolibrary.org/obo/MONDO_0004069	inborn mitochondrial metabolism disorder		
http://purl.obolibrary.org/obo/MONDO_0017047	infantile axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0978310	adenomatoid tumour of the peritoneum	http://purl.obolibrary.org/obo/MONDO_0004230	adenomatoid tumor		
http://purl.obolibrary.org/obo/MONDO_0018506	mesenchymal tumor of small intestine	http://purl.obolibrary.org/obo/MONDO_0004251	small intestine neoplasm		
http://purl.obolibrary.org/obo/MONDO_0041903	gonococcal infection of joint	http://purl.obolibrary.org/obo/MONDO_0004471	bacterial arthritis		
http://purl.obolibrary.org/obo/MONDO_0971085	pyloric duplication	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		
http://purl.obolibrary.org/obo/MONDO_0971082	gastric duplication	http://purl.obolibrary.org/obo/MONDO_0004298	stomach disorder		
http://purl.obolibrary.org/obo/MONDO_0020690	adult glioblastoma	http://purl.obolibrary.org/obo/MONDO_0018177	glioblastoma		
http://purl.obolibrary.org/obo/MONDO_0009119	diverticulosis, small-intestinal	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		
http://purl.obolibrary.org/obo/MONDO_0018962	common mesentery	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		
http://purl.obolibrary.org/obo/MONDO_0016531	digestive duplication	http://purl.obolibrary.org/obo/MONDO_0004335	digestive system disorder		
http://purl.obolibrary.org/obo/MONDO_0100110	adenovirus renal infection	http://purl.obolibrary.org/obo/MONDO_0043479	adenoviridae infectious disease		
http://purl.obolibrary.org/obo/MONDO_0958099	idiopathic subglottic stenosis	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		
http://purl.obolibrary.org/obo/MONDO_0015395	congenital subglottic stenosis	http://purl.obolibrary.org/obo/MONDO_0004382	laryngeal disorder		
http://purl.obolibrary.org/obo/MONDO_0014013	maternal riboflavin deficiency	http://purl.obolibrary.org/obo/MONDO_0017757	disorder of metabolite absorption and transport		
http://purl.obolibrary.org/obo/MONDO_0009988	retinoschisis of fovea	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0800319	cone dystrophy 5, X-linked	http://purl.obolibrary.org/obo/MONDO_0004580	retinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0800320	cone dystrophy 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0004580	retinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0016293	congenital stationary night blindness	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0850154	tongue carcinoma	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		
http://purl.obolibrary.org/obo/MONDO_0024685	Philadelphia-positive myelogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0004643	myeloid leukemia		
http://purl.obolibrary.org/obo/MONDO_0041850	pneumonia caused by gram negative bacteria	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		
http://purl.obolibrary.org/obo/MONDO_0020480	sulfite oxidase deficiency due to molybdenum cofactor deficiency	http://purl.obolibrary.org/obo/MONDO_0019358	encephalopathy due to sulfite oxidase deficiency		
http://purl.obolibrary.org/obo/MONDO_0971178	polycystic kidney disease 8	http://purl.obolibrary.org/obo/MONDO_0004691	autosomal dominant polycystic kidney disease		
http://purl.obolibrary.org/obo/MONDO_0031062	polycystic kidney disease 7	http://purl.obolibrary.org/obo/MONDO_0004691	autosomal dominant polycystic kidney disease		
http://purl.obolibrary.org/obo/MONDO_0019235	inborn disorder of phenylalanine and tyrosine metabolism	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0800331	hyperglycinemia, transient neonatal	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0022321	2-methylacetoacetyl CoA thiolase deficiency	http://purl.obolibrary.org/obo/MONDO_0004736	inborn disorder of amino acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0025556	isocyanate induced asthma	http://purl.obolibrary.org/obo/MONDO_0004784	allergic asthma		
http://purl.obolibrary.org/obo/MONDO_0034189	primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome	http://purl.obolibrary.org/obo/MONDO_0016264	autoimmune hepatitis		
http://purl.obolibrary.org/obo/MONDO_0015978	functional neutrophil defect	http://purl.obolibrary.org/obo/MONDO_0004805	leukocyte disorder		
http://purl.obolibrary.org/obo/MONDO_0007642	isolated agenesis of gallbladder	http://purl.obolibrary.org/obo/MONDO_0004868	biliary tract disorder		
http://purl.obolibrary.org/obo/MONDO_0018807	idiopathic ductopenia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0018656	tremor-ataxia-central hypomyelination syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		
http://purl.obolibrary.org/obo/MONDO_0013138	vertigo, benign recurrent, 2	http://purl.obolibrary.org/obo/MONDO_0004900	peripheral vertigo		
http://purl.obolibrary.org/obo/MONDO_8000019	vertigo, benign recurrent, 1	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0023043	ectodermal dysplasia alopecia preaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0021208	endocrine alopecia	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		
http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0015082	alopecia antibody deficiency	http://purl.obolibrary.org/obo/MONDO_0004907	alopecia		
http://purl.obolibrary.org/obo/MONDO_0957427	B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0957428	B-lymphoblastic leukemia/lymphoma with t(17;19)	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0975864	B-lymphoblastic leukemia with NUTM1 rearrangement	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0975865	B-lymphoblastic leukemia with PAX5alt	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0975867	B-lymphoblastic leukemia with ZNF384 rearrangement	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0975863	B-lymphoblastic leukemia with MYC rearrangement	http://purl.obolibrary.org/obo/MONDO_0004947	B-cell acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0018503	carcinoma of stomach, salivary gland type	http://purl.obolibrary.org/obo/MONDO_0004950	gastric carcinoma		
http://purl.obolibrary.org/obo/MONDO_0010273	lymphoma, Hodgkin, X-linked pseudoautosomal	http://purl.obolibrary.org/obo/MONDO_0004952	Hodgkins lymphoma		
http://purl.obolibrary.org/obo/MONDO_0010762	lymphoma, Hodgkin, Y-linked pseudoautosomal	http://purl.obolibrary.org/obo/MONDO_0004952	Hodgkins lymphoma		
http://purl.obolibrary.org/obo/MONDO_0019463	non-amyloid monoclonal immunoglobulin deposition disease	http://purl.obolibrary.org/obo/MONDO_0004959	plasma cell neoplasm		
http://purl.obolibrary.org/obo/MONDO_0022196	chronic erosive gastritis	http://purl.obolibrary.org/obo/MONDO_0004966	gastritis		
http://purl.obolibrary.org/obo/MONDO_0009539	lymphoblastic leukemia, acute, with lymphomatous features	http://purl.obolibrary.org/obo/MONDO_0004967	acute lymphoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0850130	gastroesophageal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004970	adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0019668	adenoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0021040	pancreatic neoplasm		
http://purl.obolibrary.org/obo/MONDO_0008782	amyotrophic lateral sclerosis with polyglucosan bodies	http://purl.obolibrary.org/obo/MONDO_0004976	amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0009776	spermatogenic failure 1	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0010767	spermatogenic failure, Y-linked, 2	http://purl.obolibrary.org/obo/MONDO_0015607	partial chromosome Y deletion		
http://purl.obolibrary.org/obo/MONDO_0013070	spermatogenic failure 7	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0010763	spermatogenic failure, Y-linked, 1	http://purl.obolibrary.org/obo/MONDO_0015607	partial chromosome Y deletion		
http://purl.obolibrary.org/obo/MONDO_0957202	spermatogenic failure, X-linked, 7	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0957249	spermatogenic failure 82	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0957250	spermatogenic failure 83	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0957301	spermatogenic failure 84	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0975747	spermatogenic failure 95	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0020851	spermatogenic failure 30	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0020852	spermatogenic failure 31	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0020855	spermatogenic failure 32	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0958242	spermatogenic failure 90	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0970943	spermatogenic failure, X-linked, 8	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0970952	spermatogenic failure 91	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0970999	spermatogenic failure 92	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0971000	spermatogenic failure 93	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0971002	spermatogenic failure 94	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0980708	spermatogenic failure 102	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0023664	spermatogenic failure 54	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030307	spermatogenic failure 55	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0024773	spermatogenic failure, X-linked, 4	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030716	spermatogenic failure 66	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030718	spermatogenic failure 67	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030721	spermatogenic failure 68	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030732	spermatogenic failure 69	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030733	spermatogenic failure 70	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030972	spermatogenic failure 74	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030984	spermatogenic failure 75	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0031077	spermatogenic failure 76	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0031083	spermatogenic failure 77	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030430	spermatogenic failure 56	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030439	spermatogenic failure 57	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030463	spermatogenic failure 58	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030492	spermatogenic failure 59	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030493	spermatogenic failure 60	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030507	spermatogenic failure 61	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030508	spermatogenic failure 62	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030515	spermatogenic failure 63	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030522	spermatogenic failure 64	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030531	spermatogenic failure 65	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0033622	spermatogenic failure 44	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0033671	spermatogenic failure 45	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0033673	spermatogenic failure 46	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0700290	spermatogenic failure 98	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054615	spermatogenic failure 18	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054723	spermatogenic failure 19	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054724	spermatogenic failure 20	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054725	spermatogenic failure 21	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054726	spermatogenic failure 22	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054727	spermatogenic failure 23	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054728	spermatogenic failure 24	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0054730	spermatogenic failure 26	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030926	spermatogenic failure 51	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030938	spermatogenic failure 52	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030989	spermatogenic failure 53	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0976123	spermatogenic failure, X-linked, 9	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0978297	spermatogenic failure 99	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0978302	spermatogenic failure 100	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0979572	spermatogenic failure 101	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032686	spermatogenic failure 35	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032739	spermatogenic failure 36	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032744	spermatogenic failure 37	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032748	spermatogenic failure 38	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032845	spermatogenic failure 39	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032859	spermatogenic failure 40	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032863	spermatogenic failure 41	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032896	spermatogenic failure 42	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0032898	spermatogenic failure 43	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0975842	spermatogenic failure 96	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0975958	spermatogenic failure 97	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0007161	spermatogenic failure 2	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0029147	spermatogenic failure 33	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0029148	spermatogenic failure 34	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030787	spermatogenic failure 71	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030809	spermatogenic failure 72	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030818	spermatogenic failure 73	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0958206	spermatogenic failure 89	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030844	spermatogenic failure 47	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030846	spermatogenic failure 48	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030868	spermatogenic failure 49	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0030869	spermatogenic failure 50	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0859338	spermatogenic failure 78	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0859352	spermatogenic failure 79	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0859364	spermatogenic failure 80	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0859477	spermatogenic failure, X-linked, 5	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0859478	spermatogenic failure, X-linked, 6	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0859522	spermatogenic failure 81	http://purl.obolibrary.org/obo/MONDO_0004983	spermatogenic failure		
http://purl.obolibrary.org/obo/MONDO_0012319	major affective disorder 3	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0012881	major affective disorder 7	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0012642	major affective disorder 4	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0012685	major affective disorder 5	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0012686	major affective disorder 6	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0012877	major affective disorder 8	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0012882	major affective disorder 9	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0045059	cribriform carcinoma of breast	http://purl.obolibrary.org/obo/MONDO_0006176	cribriform carcinoma		
http://purl.obolibrary.org/obo/MONDO_0858997	cancer of unknown primary site	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		
http://purl.obolibrary.org/obo/MONDO_0020633	anaplastic cancer	http://purl.obolibrary.org/obo/MONDO_0004992	cancer		
http://purl.obolibrary.org/obo/MONDO_0022653	cardiomyopathy due to anthracyclines	http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0023006	doxorubicin induced cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004994	cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0979357	idiopathic chronic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0005003	chronic pancreatitis		
http://purl.obolibrary.org/obo/MONDO_0850101	spitzoid melanoma	http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma		
http://purl.obolibrary.org/obo/MONDO_0850110	melanoma in congenital melanocytic nevus	http://purl.obolibrary.org/obo/MONDO_0005012	cutaneous melanoma		
http://purl.obolibrary.org/obo/MONDO_0018765	cryptogenic multifocal ulcerous stenosing enteritis	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		
http://purl.obolibrary.org/obo/MONDO_0018766	chronic enteropathy associated with SLCO2A1 gene	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		
http://purl.obolibrary.org/obo/MONDO_0022330	4-hydroxyphenylacetic aciduria	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0859166	visceral leiomyopathy, African degenerative	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		
http://purl.obolibrary.org/obo/MONDO_0859289	intestinal dysmotility syndrome	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		
http://purl.obolibrary.org/obo/MONDO_0018438	eosinophilic gastrointestinal disease	http://purl.obolibrary.org/obo/MONDO_0005020	intestinal disorder		
http://purl.obolibrary.org/obo/MONDO_0015653	monogenic epilepsy	http://purl.obolibrary.org/obo/MONDO_0005027	epilepsy		
http://purl.obolibrary.org/obo/MONDO_0018202	gonadal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0005040	germ cell tumor		
http://purl.obolibrary.org/obo/MONDO_0020650	germ cell tumor of the vulva	http://purl.obolibrary.org/obo/MONDO_0021049	vulvar neoplasm		
http://purl.obolibrary.org/obo/MONDO_0957341	secondary early-onset glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	glaucoma		
http://purl.obolibrary.org/obo/MONDO_0023530	kallikrein hypertension	http://purl.obolibrary.org/obo/MONDO_0005044	hypertensive disorder		
http://purl.obolibrary.org/obo/MONDO_0009726	proteosome-associated autoinflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0017787	erythroderma desquamativum	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		
http://purl.obolibrary.org/obo/MONDO_0850068	early-onset autoimmunity-autoinflammation-immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		
http://purl.obolibrary.org/obo/MONDO_0850070	CADINS disease	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		
http://purl.obolibrary.org/obo/MONDO_0100211	growth hormone insensitivity with immune dysregulation 1, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100210	growth hormone insensitivity syndrome with immune dysregulation		
http://purl.obolibrary.org/obo/MONDO_0024627	phagocytic cell dysfunction	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		
http://purl.obolibrary.org/obo/MONDO_0017769	acquired immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0005046	immune system disorder		
http://purl.obolibrary.org/obo/MONDO_0023067	endemic Kaposi sarcoma	http://purl.obolibrary.org/obo/MONDO_0005055	Kaposi's sarcoma		
http://purl.obolibrary.org/obo/MONDO_0850122	solid adenocarcinoma with mucin production	http://purl.obolibrary.org/obo/MONDO_0005061	lung adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0017207	primary organ-specific lymphoma	http://purl.obolibrary.org/obo/MONDO_0005062	lymphoma		
http://purl.obolibrary.org/obo/MONDO_0971140	well-differentiated papillary mesothelial tumour of the pleura	http://purl.obolibrary.org/obo/MONDO_0005065	mesothelioma		
http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0024431	bilirubin metabolism disease	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		
http://purl.obolibrary.org/obo/MONDO_0041261	disorder of acid-base balance	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		
http://purl.obolibrary.org/obo/MONDO_0000129	glutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0005066	metabolic disease		
http://purl.obolibrary.org/obo/MONDO_0022609	bronchial adenomas/carcinoids childhood	http://purl.obolibrary.org/obo/MONDO_0005070	neoplasm		
http://purl.obolibrary.org/obo/MONDO_0021143	melanocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021635	neurocristopathy		
http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		
http://purl.obolibrary.org/obo/MONDO_0017297	chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0018362	persistent idiopathic facial pain	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0018620	hypothalamic adipsic hypernatraemia syndrome	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0018752	exercise-induced malignant hyperthermia	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0975898	post-selective serotonin reuptake inhibitor sexual dysfunction	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0975897	post 5-alpha-reductase inhibitors treatment syndrome	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0033926	prepubertal anorexia nervosa	http://purl.obolibrary.org/obo/MONDO_0005351	anorexia nervosa		
http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases	http://purl.obolibrary.org/obo/MONDO_0005071	nervous system disorder		
http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0024183	wet beriberi	http://purl.obolibrary.org/obo/MONDO_0006676	beriberi		
http://purl.obolibrary.org/obo/MONDO_0016831	linear verrucous nevus syndrome	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		
http://purl.obolibrary.org/obo/MONDO_0018258	Angora hair nevus	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		
http://purl.obolibrary.org/obo/MONDO_0018259	didymosis aplasticosebacea	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		
http://purl.obolibrary.org/obo/MONDO_0018260	scalp syndrome	http://purl.obolibrary.org/obo/MONDO_0005073	melanocytic nevus		
http://purl.obolibrary.org/obo/MONDO_0021075	neoplastic polyp	http://purl.obolibrary.org/obo/MONDO_0021074	precancerous condition		
http://purl.obolibrary.org/obo/MONDO_0012264	preeclampsia/eclampsia 2	http://purl.obolibrary.org/obo/MONDO_0005081	preeclampsia		
http://purl.obolibrary.org/obo/MONDO_0012265	preeclampsia/eclampsia 3	http://purl.obolibrary.org/obo/MONDO_0005081	preeclampsia		
http://purl.obolibrary.org/obo/MONDO_0100467	preeclampsia/eclampsia 1	http://purl.obolibrary.org/obo/MONDO_0005081	preeclampsia		
http://purl.obolibrary.org/obo/MONDO_0022205	pustular psoriasis	http://purl.obolibrary.org/obo/MONDO_0005083	psoriasis		
http://purl.obolibrary.org/obo/MONDO_0007763	nonpapillary renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005086	renal cell carcinoma		
http://purl.obolibrary.org/obo/MONDO_0018978	IgG4-related mediastinitis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		
http://purl.obolibrary.org/obo/MONDO_0017357	transient hyperammonemia of the newborn	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		
http://purl.obolibrary.org/obo/MONDO_0958269	isolated left bronchial isomerism	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		
http://purl.obolibrary.org/obo/MONDO_0015012	mucopolysaccharidosis-plus syndrome	http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement		
http://purl.obolibrary.org/obo/MONDO_0020001	respiratory or thoracic malformation	http://purl.obolibrary.org/obo/MONDO_0005087	respiratory system disorder		
http://purl.obolibrary.org/obo/MONDO_0800358	schizophrenia 17	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		
http://purl.obolibrary.org/obo/MONDO_0957430	childhood-onset schizophrenia	http://purl.obolibrary.org/obo/MONDO_0005090	schizophrenia		
http://purl.obolibrary.org/obo/MONDO_0033312	schizophrenia 19	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0013696	chromosome 2p16.3 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016884	partial deletion of the short arm of chromosome 2		
http://purl.obolibrary.org/obo/MONDO_0007990	multiple benign circumferential skin creases on limbs	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0017772	oral erosive lichen	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0018025	chronic actinic dermatitis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0018679	primary cutaneous plasmacytosis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		
http://purl.obolibrary.org/obo/MONDO_0971103	Nicolau syndrome	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0022907	cutaneous sclerosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0035879	granuloma faciale	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0017396	toxic dermatosis	http://purl.obolibrary.org/obo/MONDO_0005093	skin disorder		
http://purl.obolibrary.org/obo/MONDO_0020657	human papillomavirus-related squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor		
http://purl.obolibrary.org/obo/MONDO_0979280	pure squamous carcinoma of the urothelial tract	http://purl.obolibrary.org/obo/MONDO_0040679	urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0022623	CDK4 linked melanoma	http://purl.obolibrary.org/obo/MONDO_0005105	melanoma		
http://purl.obolibrary.org/obo/MONDO_0018583	human infection by orthopoxvirus	http://purl.obolibrary.org/obo/MONDO_0005108	viral infectious disease		
http://purl.obolibrary.org/obo/MONDO_0022839	congenital human immunodeficiency virus	http://purl.obolibrary.org/obo/MONDO_0005109	HIV infectious disease		
http://purl.obolibrary.org/obo/MONDO_0018008	idiopathic giant cell myocarditis	http://purl.obolibrary.org/obo/MONDO_0023232	giant cell myocarditis		
http://purl.obolibrary.org/obo/MONDO_0018111	idiopathic severe pneumococcemia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0018602	necrotizing soft tissue infection	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		
http://purl.obolibrary.org/obo/MONDO_0024389	anaerobic bacteria infectious disease	http://purl.obolibrary.org/obo/MONDO_0005113	bacterial infectious disease		
http://purl.obolibrary.org/obo/MONDO_0022888	craniostenosis cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		
http://purl.obolibrary.org/obo/MONDO_0045049	hypermature cataract	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		
http://purl.obolibrary.org/obo/MONDO_0030465	cataract 49	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		
http://purl.obolibrary.org/obo/MONDO_0032735	cataract 48	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		
http://purl.obolibrary.org/obo/MONDO_0859382	cataract 50 with or without glaucoma	http://purl.obolibrary.org/obo/MONDO_0005129	cataract		
http://purl.obolibrary.org/obo/MONDO_0018108	idiopathic disseminated cytomegalovirus infection	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0016128	parasitic myositis	http://purl.obolibrary.org/obo/MONDO_0023483	infectious myositis		
http://purl.obolibrary.org/obo/MONDO_0100345	lactose intolerance	http://purl.obolibrary.org/obo/MONDO_0020598	malabsorption syndrome		
http://purl.obolibrary.org/obo/MONDO_0040732	Pseudomonas aeruginosa infectious disease	http://purl.obolibrary.org/obo/MONDO_0005141	Pseudomonas infection		
http://purl.obolibrary.org/obo/MONDO_0007103	amyotrophic lateral sclerosis type 1	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0011691	amyotrophic lateral sclerosis type 3	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0011952	amyotrophic lateral sclerosis type 7	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0957538	amyotrophic lateral sclerosis 28	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0027694	amyotrophic lateral sclerosis type 23	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0030885	amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0030872	frontotemporal dementia and/or amyotrophic lateral sclerosis 8	http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0030875	frontotemporal dementia and/or amyotrophic lateral sclerosis 5	http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0859529	amyotrophic lateral sclerosis 27, juvenile	http://purl.obolibrary.org/obo/MONDO_0005144	familial amyotrophic lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0011027	diabetes mellitus, noninsulin-dependent, 1	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0011072	diabetes mellitus, noninsulin-dependent, 2	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0011363	diabetes mellitus, noninsulin-dependent, 3	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0011955	diabetes mellitus, noninsulin-dependent, 4	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0017157	pulmonary hypertension owing to lung disease and/or hypoxia	http://purl.obolibrary.org/obo/MONDO_0005149	pulmonary hypertension		
http://purl.obolibrary.org/obo/MONDO_0013458	hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0012674	age related macular degeneration 10	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		
http://purl.obolibrary.org/obo/MONDO_0014515	macular dystrophy with central cone involvement	http://purl.obolibrary.org/obo/MONDO_0005150	age-related macular degeneration		
http://purl.obolibrary.org/obo/MONDO_0017322	disorders of vitamin D metabolism	http://purl.obolibrary.org/obo/MONDO_0005528	inborn vitamin metabolic disorder		
http://purl.obolibrary.org/obo/MONDO_0800378	17,20-lyase deficiency, isolated	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0800379	17-alpha-hydroxylase/17,20-lyase deficiency, combined complete	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0800380	17-alpha-hydroxylase/17,20-lyase deficiency, combined partial	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0975922	acquired hypothalamic obesity	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0015127	pituitary deficiency	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0015514	hereditary endocrine growth disease	http://purl.obolibrary.org/obo/MONDO_0005151	endocrine system disorder		
http://purl.obolibrary.org/obo/MONDO_0800322	membranous obstruction of inferior vena cava	http://purl.obolibrary.org/obo/MONDO_0005154	liver disorder		
http://purl.obolibrary.org/obo/MONDO_0024615	T-cell and NK-cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005157	lymphoid neoplasm		
http://purl.obolibrary.org/obo/MONDO_0008233	pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0005165	benign neoplasm		
http://purl.obolibrary.org/obo/MONDO_0008154	osteomas of mandible	http://purl.obolibrary.org/obo/MONDO_0021522	benign neoplasm of lower jaw bone		
http://purl.obolibrary.org/obo/MONDO_0011227	short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0800344	brachydactyly-syndactyly-oligodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		
http://purl.obolibrary.org/obo/MONDO_0000151	symphalangism	http://purl.obolibrary.org/obo/MONDO_0005172	skeletal system disorder		
http://purl.obolibrary.org/obo/MONDO_0010796	Parkinson disease, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0005180	Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0013167	Parkinson disease 16	http://purl.obolibrary.org/obo/MONDO_0005180	Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions	http://purl.obolibrary.org/obo/MONDO_0005181	progressive external ophthalmoplegia		
http://purl.obolibrary.org/obo/MONDO_0018368	primary peritoneal serous/papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0006386	primary peritoneal serous adenocarcinoma		
http://purl.obolibrary.org/obo/MONDO_0042972	meningococcemia	http://purl.obolibrary.org/obo/MONDO_0005373	meningococcal infection		
http://purl.obolibrary.org/obo/MONDO_0024414	anaerobic cellulitis	http://purl.obolibrary.org/obo/MONDO_0024389	anaerobic bacteria infectious disease		
http://purl.obolibrary.org/obo/MONDO_0008071	autosomal dominant progressive nephropathy with hypertension	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0018671	IgG4-related kidney disease	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		
http://purl.obolibrary.org/obo/MONDO_0800337	acute tubulointerstitial nephritis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0971105	neonatal renal venous thrombosis	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0958093	non-syndromic supernumerary kidneys	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0035763	idiopathic non-lupus full-house nephropathy	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0043112	lachiewicz sibley syndrome	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0034110	atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	http://purl.obolibrary.org/obo/MONDO_0005240	kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0018559	fetal lower urinary tract obstruction	http://purl.obolibrary.org/obo/MONDO_0019356	urogenital tract malformation		
http://purl.obolibrary.org/obo/MONDO_0800207	neuropathy, small fiber	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0958122	idiopathic small fibers neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0024334	peripheral nerve lesion	http://purl.obolibrary.org/obo/MONDO_0005244	peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0022735	choroid plexus cyst	http://purl.obolibrary.org/obo/MONDO_0005262	central nervous system cyst		
http://purl.obolibrary.org/obo/MONDO_0030314	inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0005265	inflammatory bowel disease		
http://purl.obolibrary.org/obo/MONDO_0022535	autonomic facial cephalgia	http://purl.obolibrary.org/obo/MONDO_0005269	carotid artery disorder		
http://purl.obolibrary.org/obo/MONDO_0008669	vulvovaginitis, allergic seminal	http://purl.obolibrary.org/obo/MONDO_0007019	vulvovaginitis		
http://purl.obolibrary.org/obo/MONDO_0018469	pulmonary non-tuberculous mycobacterial infection	http://purl.obolibrary.org/obo/MONDO_0020590	mycobacterial infectious disease		
http://purl.obolibrary.org/obo/MONDO_0022736	occupational lung disease	http://purl.obolibrary.org/obo/MONDO_0100366	occupational disorder		
http://purl.obolibrary.org/obo/MONDO_0023011	Wilson-Mikity syndrome	http://purl.obolibrary.org/obo/MONDO_0005275	lung disorder		
http://purl.obolibrary.org/obo/MONDO_0971083	gallbladder duplication	http://purl.obolibrary.org/obo/MONDO_0005281	gallbladder disorder		
http://purl.obolibrary.org/obo/MONDO_0010633	iris hypoplasia with glaucoma	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0957337	isolated chorioretinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		
http://purl.obolibrary.org/obo/MONDO_0971125	torpedo maculopathy	http://purl.obolibrary.org/obo/MONDO_0005283	retinal disorder		
http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0020246	inherited vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0015807	myopic macular degeneration	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0022151	Chitty Hall Webb syndrome	http://purl.obolibrary.org/obo/MONDO_0005287	developmental disability		
http://purl.obolibrary.org/obo/MONDO_0018315	X-linked osteoporosis with fractures	http://purl.obolibrary.org/obo/MONDO_0005298	osteoporosis		
http://purl.obolibrary.org/obo/MONDO_0000079	nephrolithiasis/osteoporosis, hypophosphatemic	http://purl.obolibrary.org/obo/MONDO_0005298	osteoporosis		
http://purl.obolibrary.org/obo/MONDO_0020655	juvenile ankylosing spondylitis	http://purl.obolibrary.org/obo/MONDO_0005306	ankylosing spondylitis		
http://purl.obolibrary.org/obo/MONDO_0012425	corneal dystrophy, fuchs endothelial, 2	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy		
http://purl.obolibrary.org/obo/MONDO_0013205	corneal dystrophy, fuchs endothelial, 5	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy		
http://purl.obolibrary.org/obo/MONDO_0013207	corneal dystrophy, fuchs endothelial, 7	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs' endothelial dystrophy		
http://purl.obolibrary.org/obo/MONDO_0017299	acute annular outer retinopathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0017318	phakomatosis pigmentovascularis	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0850008	anterior segment developmental abnormality with extraocular manifestations	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0850010	congenital optic disk excavation	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0971126	isolated angioid streaks	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0971129	stellate multiform amelanotic choroidopathy	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0033809	isolated blepharochalasis	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0016205	IRVAN syndrome	http://purl.obolibrary.org/obo/MONDO_0005328	eye disorder		
http://purl.obolibrary.org/obo/MONDO_0859193	neuroocular syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0036045	euthyroid dysprealbuminemic hyperthyroxinemia	http://purl.obolibrary.org/obo/MONDO_0005333	hyperthyroxinemia		
http://purl.obolibrary.org/obo/MONDO_0012350	complement factor H deficiency	http://purl.obolibrary.org/obo/MONDO_0018013	complement 3 glomerulopathy		
http://purl.obolibrary.org/obo/MONDO_0010923	proximal myopathy with focal depletion of mitochondria	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0009703	myopathy with abnormal lipid metabolism	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0000192	polyglucosan body myopathy	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0979249	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0014220	myopathy due to myoadenylate deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0859530	myopathy, sarcoplasmic body	http://purl.obolibrary.org/obo/MONDO_0700223	hereditary skeletal muscle disorder		
http://purl.obolibrary.org/obo/MONDO_0011129	glaucoma type 1C	http://purl.obolibrary.org/obo/MONDO_0020366	congenital glaucoma		
http://purl.obolibrary.org/obo/MONDO_0010410	alopecia, androgenetic, 2	http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated		
http://purl.obolibrary.org/obo/MONDO_0800201	baldness, male pattern	http://purl.obolibrary.org/obo/MONDO_0005339	androgenetic alopecia		
http://purl.obolibrary.org/obo/MONDO_0012899	alopecia, androgenetic, 3	http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated		
http://purl.obolibrary.org/obo/MONDO_0007184	alopecia, androgenetic, 1	http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated		
http://purl.obolibrary.org/obo/MONDO_0007082	alopecia areata 1	http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated		
http://purl.obolibrary.org/obo/MONDO_0011465	infundibulocystic basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0019317	follicular atrophoderma-basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0010535	Bazex-Dupre-Christol syndrome		
http://purl.obolibrary.org/obo/MONDO_0010384	hypospadias 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0005345	hypospadias		
http://purl.obolibrary.org/obo/MONDO_0010423	hypospadias 2, X-linked	http://purl.obolibrary.org/obo/MONDO_0005345	hypospadias		
http://purl.obolibrary.org/obo/MONDO_0010458	hypospadias 4, X-linked	http://purl.obolibrary.org/obo/MONDO_0005345	hypospadias		
http://purl.obolibrary.org/obo/MONDO_0035821	isolated female hypospadias	http://purl.obolibrary.org/obo/MONDO_0005345	hypospadias		
http://purl.obolibrary.org/obo/MONDO_0007788	hypertriglyceridemia 1	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0859149	hypertriglyceridemia 2	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0012046	congenital corneal opacities, cornea guttata, and corectopia	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0011586	otosclerosis 2	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0011999	otosclerosis 3	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0012121	otosclerosis 5	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0012696	otosclerosis 4	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0012697	otosclerosis 7	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0012797	otosclerosis 8	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0968980	otosclerosis 12	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0014264	otosclerosis 10	http://purl.obolibrary.org/obo/MONDO_0005349	otosclerosis		
http://purl.obolibrary.org/obo/MONDO_0020677	sudden hearing loss disorder	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0850094	drug-induced hearing loss	http://purl.obolibrary.org/obo/MONDO_0005365	hearing loss disorder		
http://purl.obolibrary.org/obo/MONDO_0043156	nephrotic syndrome ocular anomalies	http://purl.obolibrary.org/obo/MONDO_0005377	nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0018635	idiopathic phalangeal acro-osteolysis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0022983	Dieterich disease	http://purl.obolibrary.org/obo/MONDO_0005380	osteonecrosis		
http://purl.obolibrary.org/obo/MONDO_0017930	mixed sclerosing bone dystrophy with extra-skeletal manifestations	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		
http://purl.obolibrary.org/obo/MONDO_0971119	proteoglycan-related bone disorder	http://purl.obolibrary.org/obo/MONDO_0005381	bone disorder		
http://purl.obolibrary.org/obo/MONDO_0011183	Paget disease of bone 2, early-onset	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		
http://purl.obolibrary.org/obo/MONDO_0011656	paget disease of bone 4	http://purl.obolibrary.org/obo/MONDO_0005382	bone Paget disease		
http://purl.obolibrary.org/obo/MONDO_0014792	Paget disease of bone 6	http://purl.obolibrary.org/obo/MONDO_0005382	bone Paget disease		
http://purl.obolibrary.org/obo/MONDO_0031240	familial panic disorder	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0007385	idiopathic spontaneous coronary artery dissection	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0017818	lethal arteriopathy syndrome due to fibulin-4 deficiency	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0957452	segmental arterial mediolysis	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0020674	vascular insufficiency disorder	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0958229	bleeding disorder, vascular-type	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0021658	vascular ectasia	http://purl.obolibrary.org/obo/MONDO_0005385	vascular disorder		
http://purl.obolibrary.org/obo/MONDO_0013079	primary biliary cholangitis 2	http://purl.obolibrary.org/obo/MONDO_0005388	primary biliary cholangitis		
http://purl.obolibrary.org/obo/MONDO_0013080	primary biliary cholangitis 3	http://purl.obolibrary.org/obo/MONDO_0005388	primary biliary cholangitis		
http://purl.obolibrary.org/obo/MONDO_0007193	primary biliary cholangitis 1	http://purl.obolibrary.org/obo/MONDO_0005388	primary biliary cholangitis		
http://purl.obolibrary.org/obo/MONDO_0013636	primary biliary cholangitis 4	http://purl.obolibrary.org/obo/MONDO_0005388	primary biliary cholangitis		
http://purl.obolibrary.org/obo/MONDO_0013637	primary biliary cholangitis 5	http://purl.obolibrary.org/obo/MONDO_0005388	primary biliary cholangitis		
http://purl.obolibrary.org/obo/MONDO_0008591	tremor-nystagmus-duodenal ulcer syndrome	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		
http://purl.obolibrary.org/obo/MONDO_0018425	Huntington disease-like syndrome due to C9ORF72 expansions	http://purl.obolibrary.org/obo/MONDO_0015548	Huntington disease-like syndrome		
http://purl.obolibrary.org/obo/MONDO_0018692	variably protease-sensitive prionopathy	http://purl.obolibrary.org/obo/MONDO_0018926	human prion disease		
http://purl.obolibrary.org/obo/MONDO_0018243	intellectual disability-hyperkinetic movement-truncal ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0005395	movement disorder		
http://purl.obolibrary.org/obo/MONDO_0011703	spongiform encephalopathy with neuropsychiatric features	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0017233	familial Alzheimer-like prion disease	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0018328	homozygous familial hypercholesterolemia	http://purl.obolibrary.org/obo/MONDO_0005439	familial hypercholesterolemia		
http://purl.obolibrary.org/obo/MONDO_0016203	hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0019218	inborn disorder of bile acid synthesis		
http://purl.obolibrary.org/obo/MONDO_0017328	non-central nervous system-localized embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0005440	embryonal carcinoma		
http://purl.obolibrary.org/obo/MONDO_0018192	paratesticular adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005447	testicular cancer		
http://purl.obolibrary.org/obo/MONDO_0000119	congenital heart defects, multiple types	http://purl.obolibrary.org/obo/MONDO_0005453	congenital heart disease		
http://purl.obolibrary.org/obo/MONDO_0018793	primary condylar hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005473	temporomandibular joint disorder		
http://purl.obolibrary.org/obo/MONDO_0011265	tooth agenesis, selective, 2	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		
http://purl.obolibrary.org/obo/MONDO_0012583	tooth agenesis, selective, 5	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		
http://purl.obolibrary.org/obo/MONDO_0859339	tooth agenesis, selective, 10	http://purl.obolibrary.org/obo/MONDO_0005486	tooth agenesis		
http://purl.obolibrary.org/obo/MONDO_0008353	pruritic urticarial papules and plaques of pregnancy	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/MONDO_0008634	urticaria, familial localized heat	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0044211	idiopathic urticaria	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0958263	isolated micronodular adrenocortical disease	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		
http://purl.obolibrary.org/obo/MONDO_0015900	hypoaldosteronism disease	http://purl.obolibrary.org/obo/MONDO_0005495	adrenal gland disorder		
http://purl.obolibrary.org/obo/MONDO_0026729	congenital disorder of glycosylation, type ICC	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		
http://purl.obolibrary.org/obo/MONDO_0014904	congenital disorder of glycosylation, type IAA	http://purl.obolibrary.org/obo/MONDO_0005500	congenital disorder of glycosylation type I		
http://purl.obolibrary.org/obo/MONDO_0957540	congenital disorder of glycosylation, type IIaa	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0980705	congenital disorder of glycosylation, type IIcc	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0030043	congenital disorder of glycosylation, type iit	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0030423	congenital disorder of glycosylation, type 2v	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0030437	congenital disorder of glycosylation, type IIw	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0026765	congenital disorder of glycosylation, type IIr	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0054559	congenital disorder of glycosylation, type IIq	http://purl.obolibrary.org/obo/MONDO_0017750	defect in conserved oligomeric Golgi complex		
http://purl.obolibrary.org/obo/MONDO_0013810	COG6-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0017750	defect in conserved oligomeric Golgi complex		
http://purl.obolibrary.org/obo/MONDO_0859356	congenital disorder of glycosylation, type IIy	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0859357	congenital disorder of glycosylation, type IIz	http://purl.obolibrary.org/obo/MONDO_0005501	congenital disorder of glycosylation type II		
http://purl.obolibrary.org/obo/MONDO_0010846	exostoses, multiple, type III	http://purl.obolibrary.org/obo/MONDO_0005508	hereditary multiple osteochondromas		
http://purl.obolibrary.org/obo/MONDO_0010836	nanophthalmos 1	http://purl.obolibrary.org/obo/MONDO_0005514	nanophthalmia		
http://purl.obolibrary.org/obo/MONDO_0012754	nanophthalmos 3	http://purl.obolibrary.org/obo/MONDO_0005514	nanophthalmia		
http://purl.obolibrary.org/obo/MONDO_0008994	cleidocranial dysplasia, recessive form	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0009597	metaphyseal chondrodysplasia, Spahr type	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0011064	lethal chondrodysplasia, Seller type	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0023106	Fairbank disease	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0859307	cleidocranial dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0019702	neonatal osteosclerotic dysplasia	http://purl.obolibrary.org/obo/MONDO_0005516	osteochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0024299	vitamin D-dependent rickets	http://purl.obolibrary.org/obo/MONDO_0005520	rickets		
http://purl.obolibrary.org/obo/MONDO_0018841	congenital bile acid synthesis defect	http://purl.obolibrary.org/obo/MONDO_0005523	steroid inherited metabolic disorder		
http://purl.obolibrary.org/obo/MONDO_0016511	infectious embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0016666	unexplained long-lasting fever/inflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		
http://purl.obolibrary.org/obo/MONDO_0018015	intermittent hydrarthrosis	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		
http://purl.obolibrary.org/obo/MONDO_0018783	fibroblastic rheumatism	http://purl.obolibrary.org/obo/MONDO_0005554	rheumatic disorder		
http://purl.obolibrary.org/obo/MONDO_0017803	primary progressive apraxia of speech	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		
http://purl.obolibrary.org/obo/MONDO_0975885	hypertrophic olivary degeneration	http://purl.obolibrary.org/obo/MONDO_0005559	neurodegenerative disease		
http://purl.obolibrary.org/obo/MONDO_0017103	encephaloclastic disorder	http://purl.obolibrary.org/obo/MONDO_0005560	brain disorder		
http://purl.obolibrary.org/obo/MONDO_0000137	leukoencephalopathy, megalencephalic	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0000166	encephalopathy, acute, infection-induced	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0975801	encephalopathy, acute transient	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0013583	occipital pachygyria and polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0850095	X-linked severe syndromic thoracic aortic aneurysm and dissection	http://purl.obolibrary.org/obo/MONDO_0005561	aortic disorder		
http://purl.obolibrary.org/obo/MONDO_0018678	polyclonal hyperviscosity syndrome	http://purl.obolibrary.org/obo/MONDO_0005570	hematologic disorder		
http://purl.obolibrary.org/obo/MONDO_0022904	cryofibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0005576	cryoglobulinemia		
http://purl.obolibrary.org/obo/MONDO_0043152	negative rheumatoid factor polyarthritis	http://purl.obolibrary.org/obo/MONDO_0005578	arthritic joint disease		
http://purl.obolibrary.org/obo/MONDO_0017167	malignant epithelial tumor of salivary glands	http://purl.obolibrary.org/obo/MONDO_0021223	digestive system neoplasm		
http://purl.obolibrary.org/obo/MONDO_0015317	laryngotracheal angioma	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0015042	primary plasmacytoma of the bone	http://purl.obolibrary.org/obo/MONDO_0005615	plasmacytoma		
http://purl.obolibrary.org/obo/MONDO_0015043	extramedullary soft tissue plasmacytoma	http://purl.obolibrary.org/obo/MONDO_0005615	plasmacytoma		
http://purl.obolibrary.org/obo/MONDO_0011918	anxiety	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0037254	transitional cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		
http://purl.obolibrary.org/obo/MONDO_0021096	papillary epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		
http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0005626	epithelial neoplasm		
http://purl.obolibrary.org/obo/MONDO_0044750	lassa virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005650	Arenaviridae infectious disease		
http://purl.obolibrary.org/obo/MONDO_0040728	Campylobacter fetus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005688	campylobacteriosis		
http://purl.obolibrary.org/obo/MONDO_0010606	hernia, anterior diaphragmatic	http://purl.obolibrary.org/obo/MONDO_0005711	congenital diaphragmatic hernia		
http://purl.obolibrary.org/obo/MONDO_0859571	diaphragmatic hernia 4, with cardiovascular defects	http://purl.obolibrary.org/obo/MONDO_0005711	congenital diaphragmatic hernia		
http://purl.obolibrary.org/obo/MONDO_0008106	nystagmus 2, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus		
http://purl.obolibrary.org/obo/MONDO_0008107	nystagmus, hereditary vertical	http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus		
http://purl.obolibrary.org/obo/MONDO_0008654	spinocerebellar ataxia 27A	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0010694	nystagmus, myoclonic	http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus		
http://purl.obolibrary.org/obo/MONDO_0009762	nystagmus, congenital, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus		
http://purl.obolibrary.org/obo/MONDO_0010369	nystagmus 5, congenital, X-linked	http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus		
http://purl.obolibrary.org/obo/MONDO_0010435	nystagmus 6, congenital, X-linked	http://purl.obolibrary.org/obo/MONDO_0700230	GPR143-related foveal hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0012015	nystagmus 3, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus		
http://purl.obolibrary.org/obo/MONDO_0013903	nystagmus 7, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0005712	congenital nystagmus		
http://purl.obolibrary.org/obo/MONDO_0100293	diaphragmatic malformation	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0023071	enterovirus antenatal infection	http://purl.obolibrary.org/obo/MONDO_0005747	enterovirus infectious disease		
http://purl.obolibrary.org/obo/MONDO_0015927	idiopathic eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0040671	class V glucose-6-phosphate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0005775	G6PD deficiency		
http://purl.obolibrary.org/obo/MONDO_0022529	BK-virus nephropathy	http://purl.obolibrary.org/obo/MONDO_0005784	hantavirus hemorrhagic fever with renal syndrome		
http://purl.obolibrary.org/obo/MONDO_0859362	hyperinsulinemic hypoglycemia, familial, 8	http://purl.obolibrary.org/obo/MONDO_0005803	hyperinsulinemic hypoglycemia		
http://purl.obolibrary.org/obo/MONDO_0040922	latent early syphilis	http://purl.obolibrary.org/obo/MONDO_0005822	latent syphilis		
http://purl.obolibrary.org/obo/MONDO_0024335	retrobulbar neuritis	http://purl.obolibrary.org/obo/MONDO_0005885	optic neuritis		
http://purl.obolibrary.org/obo/MONDO_0040998	Pasteurella multocida infectious disease	http://purl.obolibrary.org/obo/MONDO_0005901	pasteurellosis		
http://purl.obolibrary.org/obo/MONDO_0024655	rheumatic pericarditis	http://purl.obolibrary.org/obo/MONDO_0006955	rheumatic heart disease		
http://purl.obolibrary.org/obo/MONDO_0024363	rapid eye movement sleep disorder	http://purl.obolibrary.org/obo/MONDO_0024361	circadian rhythm sleep disorder		
http://purl.obolibrary.org/obo/MONDO_0043283	silicosiderosis	http://purl.obolibrary.org/obo/MONDO_0005960	silicosis		
http://purl.obolibrary.org/obo/MONDO_0024893	toxocara canis infection (canine roundworms)	http://purl.obolibrary.org/obo/MONDO_0005988	toxocariasis		
http://purl.obolibrary.org/obo/MONDO_0957467	primary genito-urinary tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006002	urogenital tuberculosis		
http://purl.obolibrary.org/obo/MONDO_0040925	latent yaws	http://purl.obolibrary.org/obo/MONDO_0006019	yaws		
http://purl.obolibrary.org/obo/MONDO_0042452	tertiary lesion of yaws	http://purl.obolibrary.org/obo/MONDO_0006019	yaws		
http://purl.obolibrary.org/obo/MONDO_0009231	acromesomelic dysplasia 2B	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0011978	CoQ-responsive OXPHOS deficiency	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0013803	leukoencephalopathy with calcifications and cysts	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0009361	autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius	http://purl.obolibrary.org/obo/MONDO_0016349	congenital hydrocephalus		
http://purl.obolibrary.org/obo/MONDO_0010118	inherited threoninemia	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0018218	autosomal recessive cerebral atrophy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0018657	pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0028226	autosomal recessive severe congenital neutropenia	http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0971149	spastic paraplegia 30B, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012476	hereditary spastic paraplegia 30		
http://purl.obolibrary.org/obo/MONDO_0013427	immunodeficiency 31B	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0020628	microcephaly, growth restriction, and increased sister chromatid exchange 2	http://purl.obolibrary.org/obo/MONDO_0020629	microcephaly, growth restriction and increased sister chromatid exchange		
http://purl.obolibrary.org/obo/MONDO_0020831	congenital vertebral-cardiac-renal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0980747	brain small vessel disease 2B, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0020496	familial porencephaly		
http://purl.obolibrary.org/obo/MONDO_0100215	Rajab interstitial lung disease with brain calcifications 1	http://purl.obolibrary.org/obo/MONDO_0100214	Rajab interstitial lung disease with brain calcifications		
http://purl.obolibrary.org/obo/MONDO_0054813	Ehlers-Danlos syndrome, classic-like, 2	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		
http://purl.obolibrary.org/obo/MONDO_0020781	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	http://purl.obolibrary.org/obo/MONDO_0014960	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy		
http://purl.obolibrary.org/obo/MONDO_0700309	spastic paraplegia 18b, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012639	hereditary spastic paraplegia 18		
http://purl.obolibrary.org/obo/MONDO_0979867	cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	http://purl.obolibrary.org/obo/MONDO_0007432	cerebral arteriopathy with subcortical infarcts and leukoencephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032724	spondyloepimetaphyseal dysplasia with joint laxity, type 3	http://purl.obolibrary.org/obo/MONDO_0019675	spondyloepimetaphyseal dysplasia with joint laxity		
http://purl.obolibrary.org/obo/MONDO_0033850	autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect	http://purl.obolibrary.org/obo/MONDO_0017762	disorder of copper metabolism		
http://purl.obolibrary.org/obo/MONDO_0034109	congenital myopathy with reduced type 2 muscle fibers	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0034121	NAD(P)HX dehydratase deficiency	http://purl.obolibrary.org/obo/MONDO_0014960	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014131	hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0014953	gnb5-related intellectual disability-cardiac arrhythmia syndrome	http://purl.obolibrary.org/obo/MONDO_0006025	autosomal recessive disease		
http://purl.obolibrary.org/obo/MONDO_0029134	severe combined immunodeficiency due to CARMIL2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0021746	pyelocystitis	http://purl.obolibrary.org/obo/MONDO_0006938	pyelitis		
http://purl.obolibrary.org/obo/MONDO_0957462	primary pulmonary tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006052	pulmonary tuberculosis		
http://purl.obolibrary.org/obo/MONDO_0007907	lipoma of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0021630	lipoma of face		
http://purl.obolibrary.org/obo/MONDO_0007052	growth hormone secreting pituitary adenoma 1	http://purl.obolibrary.org/obo/MONDO_0017824	familial isolated pituitary adenoma		
http://purl.obolibrary.org/obo/MONDO_0032746	hydatidiform mole, recurrent, 3	http://purl.obolibrary.org/obo/MONDO_0006248	hydatidiform mole		
http://purl.obolibrary.org/obo/MONDO_0032747	hydatidiform mole, recurrent, 4	http://purl.obolibrary.org/obo/MONDO_0006248	hydatidiform mole		
http://purl.obolibrary.org/obo/MONDO_0971141	localized pleural mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma		
http://purl.obolibrary.org/obo/MONDO_0971142	diffused pleural mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma		
http://purl.obolibrary.org/obo/MONDO_0971143	pleural mesothelioma in situ	http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma		
http://purl.obolibrary.org/obo/MONDO_0975890	mesothelioma of the tunica vaginalis	http://purl.obolibrary.org/obo/MONDO_0006292	malignant mesothelioma		
http://purl.obolibrary.org/obo/MONDO_0971145	peritoneal mesothelioma in situ	http://purl.obolibrary.org/obo/MONDO_0006362	peritoneal mesothelioma		
http://purl.obolibrary.org/obo/MONDO_0017824	familial isolated pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0023238	giant mammary hamartoma	http://purl.obolibrary.org/obo/MONDO_0006499	hamartoma		
http://purl.obolibrary.org/obo/MONDO_0024478	mesenchymal hamartoma	http://purl.obolibrary.org/obo/MONDO_0006499	hamartoma		
http://purl.obolibrary.org/obo/MONDO_0016223	infantile hemangioma of rare localization	http://purl.obolibrary.org/obo/MONDO_0006500	hemangioma		
http://purl.obolibrary.org/obo/MONDO_0022985	diffuse cavernous hemangioma of the rectum	http://purl.obolibrary.org/obo/MONDO_0021462	benign neoplasm of rectum		
http://purl.obolibrary.org/obo/MONDO_0021162	carotenemia	http://purl.obolibrary.org/obo/MONDO_0006504	acquired metabolic disease		
http://purl.obolibrary.org/obo/MONDO_0000105	anemia, nonspherocytic hemolytic	http://purl.obolibrary.org/obo/MONDO_0006506	congenital nonspherocytic hemolytic anemia		
http://purl.obolibrary.org/obo/MONDO_0022323	2-hydroxyethyl methacrylate sensitization	http://purl.obolibrary.org/obo/MONDO_0006525	allergic contact dermatitis		
http://purl.obolibrary.org/obo/MONDO_0009178	epidermolysis bullosa dystrophica Neurotrophica	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		
http://purl.obolibrary.org/obo/MONDO_0800206	epidermolysis bullosa dystrophica with subcorneal cleavage	http://purl.obolibrary.org/obo/MONDO_0006543	epidermolysis bullosa dystrophica		
http://purl.obolibrary.org/obo/MONDO_0024343	pityriasis simplex	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		
http://purl.obolibrary.org/obo/MONDO_0024344	pityriasis folliculorum	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		
http://purl.obolibrary.org/obo/MONDO_0024346	pityriasis amiantacea	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		
http://purl.obolibrary.org/obo/MONDO_0024350	pityriasis steatoides	http://purl.obolibrary.org/obo/MONDO_0006547	exanthem		
http://purl.obolibrary.org/obo/MONDO_0035592	congenital infiltrating lipomatosis of the face	http://purl.obolibrary.org/obo/MONDO_0006574	lipomatosis		
http://purl.obolibrary.org/obo/MONDO_0020814	miliaria alba	http://purl.obolibrary.org/obo/MONDO_0006580	miliaria		
http://purl.obolibrary.org/obo/MONDO_0020816	miliaria papulosa	http://purl.obolibrary.org/obo/MONDO_0006580	miliaria		
http://purl.obolibrary.org/obo/MONDO_0020817	miliaria vesiculosa	http://purl.obolibrary.org/obo/MONDO_0006580	miliaria		
http://purl.obolibrary.org/obo/MONDO_0020823	infantile miliaria	http://purl.obolibrary.org/obo/MONDO_0006580	miliaria		
http://purl.obolibrary.org/obo/MONDO_0019555	panniculitis and localized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0019194	localized lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0041182	polymorphic light eruption	http://purl.obolibrary.org/obo/MONDO_0006597	photosensitivity disease		
http://purl.obolibrary.org/obo/MONDO_0017256	idiopathic anterior uveitis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0017634	non-infectious anterior uveitis	http://purl.obolibrary.org/obo/MONDO_0006651	anterior uveitis		
http://purl.obolibrary.org/obo/MONDO_0041825	bacterial meningitis caused by gram-negative bacteria	http://purl.obolibrary.org/obo/MONDO_0021678	gram-negative bacterial infections		
http://purl.obolibrary.org/obo/MONDO_0024392	anaerobic balanitis	http://purl.obolibrary.org/obo/MONDO_0024389	anaerobic bacteria infectious disease		
http://purl.obolibrary.org/obo/MONDO_0024182	dry beriberi	http://purl.obolibrary.org/obo/MONDO_0006676	beriberi		
http://purl.obolibrary.org/obo/MONDO_0022618	burning mouth syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0006687	burning mouth syndrome		
http://purl.obolibrary.org/obo/MONDO_0022394	cervical intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0006736	dysplasia of cervix		
http://purl.obolibrary.org/obo/MONDO_0034150	idiopathic gastroparesis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0957460	spontaneous intestinal perforation	http://purl.obolibrary.org/obo/MONDO_0006807	intestinal perforation		
http://purl.obolibrary.org/obo/MONDO_0022208	crystal arthropathy	http://purl.obolibrary.org/obo/MONDO_0006816	arthropathy		
http://purl.obolibrary.org/obo/MONDO_0022768	chronic polyradiculoneuritis	http://purl.obolibrary.org/obo/MONDO_0006915	polyradiculoneuropathy		
http://purl.obolibrary.org/obo/MONDO_0016171	polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies	http://purl.obolibrary.org/obo/MONDO_0006915	polyradiculoneuropathy		
http://purl.obolibrary.org/obo/MONDO_0043099	Hordnes Engebretsen Knudtson syndrome	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		
http://purl.obolibrary.org/obo/MONDO_0027091	xanthogranulomatous sialadenitis	http://purl.obolibrary.org/obo/MONDO_0006969	sialadenitis		
http://purl.obolibrary.org/obo/MONDO_0008502	sulfhemoglobinemia, congenital	http://purl.obolibrary.org/obo/MONDO_0009332	congenital hematological disorder		
http://purl.obolibrary.org/obo/MONDO_0007236	branchiootorenal syndrome 1	http://purl.obolibrary.org/obo/MONDO_0007029	branchio-oto-renal syndrome		
http://purl.obolibrary.org/obo/MONDO_0016533	apolipoprotein A-II amyloidosis	http://purl.obolibrary.org/obo/MONDO_0007099	familial visceral amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0971004	amyloidosis, hereditary systemic 1	http://purl.obolibrary.org/obo/MONDO_0007100	familial amyloid neuropathy		
http://purl.obolibrary.org/obo/MONDO_0971008	amyloidosis, hereditary systemic 3	http://purl.obolibrary.org/obo/MONDO_0007100	familial amyloid neuropathy		
http://purl.obolibrary.org/obo/MONDO_0971009	amyloidosis, hereditary systemic 5	http://purl.obolibrary.org/obo/MONDO_0007100	familial amyloid neuropathy		
http://purl.obolibrary.org/obo/MONDO_0971010	amyloidosis, hereditary systemic 6	http://purl.obolibrary.org/obo/MONDO_0007100	familial amyloid neuropathy		
http://purl.obolibrary.org/obo/MONDO_0013502	amyloidosis, primary localized cutaneous, 2	http://purl.obolibrary.org/obo/MONDO_0007101	familial primary localized cutaneous amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0018461	Angelman syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0007113	Angelman syndrome		
http://purl.obolibrary.org/obo/MONDO_0018462	Angelman syndrome due to imprinting defect in 15q11-q13	http://purl.obolibrary.org/obo/MONDO_0007113	Angelman syndrome		
http://purl.obolibrary.org/obo/MONDO_0017943	autoerythrocyte sensitization syndrome	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0018356	secondary neonatal autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0018756	euthyroid Graves orbitopathy	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0850102	non-specific autoimmune supratentorial encephalitis with characteristic antibodies	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0850103	non-specific autoimmune supratentorial encephalitis without characteristic antibodies	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0850105	non-specific autoimmune brainstem encephalitis with characteristic antibodies	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0850106	non-specific autoimmune brainstem encephalitis without characteristic antibodies	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0850108	non-specific autoimmune cerebellar ataxia with characteristic antibodies	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0850109	non-specific autoimmune cerebellar ataxia without characteristic antibodies	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0975847	autoimmune disease with susceptibility to mycobacterium tuberculosis	http://purl.obolibrary.org/obo/MONDO_0007179	autoimmune disease		
http://purl.obolibrary.org/obo/MONDO_0035524	blepharophimosis-ptosis-epicanthus inversus syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome		
http://purl.obolibrary.org/obo/MONDO_0035525	blepharophimosis-ptosis-epicanthus inversus syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome		
http://purl.obolibrary.org/obo/MONDO_0700249	epidermolytic hyperkeratosis 1	http://purl.obolibrary.org/obo/MONDO_0007239	epidermolytic ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0100042	cardiac conduction defect	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		
http://purl.obolibrary.org/obo/MONDO_0054866	sudden arrhythmia death syndrome	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		
http://purl.obolibrary.org/obo/MONDO_0015257	sino-auricular heart block	http://purl.obolibrary.org/obo/MONDO_0007263	cardiac rhythm disease		
http://purl.obolibrary.org/obo/MONDO_0010182	hypercarotenemia and vitamin A deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0007272	hereditary hypercarotenemia and vitamin A deficiency		
http://purl.obolibrary.org/obo/MONDO_0020730	carpal tunnel syndrome 1	http://purl.obolibrary.org/obo/MONDO_0007275	carpal tunnel syndrome		
http://purl.obolibrary.org/obo/MONDO_0030883	carpal tunnel syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007275	carpal tunnel syndrome		
http://purl.obolibrary.org/obo/MONDO_0016861	Alagille syndrome due to 20p12 microdeletion	http://purl.obolibrary.org/obo/MONDO_0016898	partial monosomy of the short arm of chromosome 20		
http://purl.obolibrary.org/obo/MONDO_0007322	chondrodysplasia punctata, tibial-metacarpal type	http://purl.obolibrary.org/obo/MONDO_0007321	autosomal dominant chondrodysplasia punctata		
http://purl.obolibrary.org/obo/MONDO_0011238	chondrodysplasia punctata, brachytelephalangic, autosomal	http://purl.obolibrary.org/obo/MONDO_0007321	autosomal dominant chondrodysplasia punctata		
http://purl.obolibrary.org/obo/MONDO_0010927	orofacial cleft 3	http://purl.obolibrary.org/obo/MONDO_0016043	isolated cleft lip		
http://purl.obolibrary.org/obo/MONDO_0017382	familial clubfoot due to 5q31 microdeletion	http://purl.obolibrary.org/obo/MONDO_0007342	clubfoot		
http://purl.obolibrary.org/obo/MONDO_0017383	familial clubfoot due to PITX1 point mutation	http://purl.obolibrary.org/obo/MONDO_0007342	clubfoot		
http://purl.obolibrary.org/obo/MONDO_0020791	corneal dystrophy, Meesmann, 1	http://purl.obolibrary.org/obo/MONDO_0007379	Meesmann corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0032904	corneal dystrophy, Meesmann, 2	http://purl.obolibrary.org/obo/MONDO_0007379	Meesmann corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0022311	cote katsantoni syndrome	http://purl.obolibrary.org/obo/MONDO_0007405	Crouzon syndrome		
http://purl.obolibrary.org/obo/MONDO_0022552	Bazopoulou Kyrkanidou syndrome	http://purl.obolibrary.org/obo/MONDO_0007405	Crouzon syndrome		
http://purl.obolibrary.org/obo/MONDO_0017819	atypical dentin dysplasia due to SMOC2 deficiency	http://purl.obolibrary.org/obo/MONDO_0007436	dentin dysplasia type I		
http://purl.obolibrary.org/obo/MONDO_0700387	dentin dysplasia, type IB	http://purl.obolibrary.org/obo/MONDO_0007436	dentin dysplasia type I		
http://purl.obolibrary.org/obo/MONDO_0020682	Ehlers-Danlos syndrome, spondylodysplastic type, 1	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		
http://purl.obolibrary.org/obo/MONDO_0020684	Ehlers-Danlos syndrome, periodontal type 1	http://purl.obolibrary.org/obo/MONDO_0007527	Ehlers-Danlos syndrome, periodontitis type		
http://purl.obolibrary.org/obo/MONDO_0014954	Ehlers-Danlos syndrome, periodontal type 2	http://purl.obolibrary.org/obo/MONDO_0007527	Ehlers-Danlos syndrome, periodontitis type		
http://purl.obolibrary.org/obo/MONDO_0023182	Franceschini Vardeu Guala syndrome	http://purl.obolibrary.org/obo/MONDO_0007534	Beckwith-Wiedemann syndrome		
http://purl.obolibrary.org/obo/MONDO_0016475	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	http://purl.obolibrary.org/obo/MONDO_0007534	Beckwith-Wiedemann syndrome		
http://purl.obolibrary.org/obo/MONDO_0016476	Beckwith-Wiedemann syndrome due to CDKN1C mutation	http://purl.obolibrary.org/obo/MONDO_0007534	Beckwith-Wiedemann syndrome		
http://purl.obolibrary.org/obo/MONDO_0016478	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	http://purl.obolibrary.org/obo/MONDO_0007534	Beckwith-Wiedemann syndrome		
http://purl.obolibrary.org/obo/MONDO_0016547	Beckwith-Wiedemann syndrome due to NSD1 mutation	http://purl.obolibrary.org/obo/MONDO_0007534	Beckwith-Wiedemann syndrome		
http://purl.obolibrary.org/obo/MONDO_0024525	Fanconi renotubular syndrome 1	http://purl.obolibrary.org/obo/MONDO_0007600	primary Fanconi syndrome		
http://purl.obolibrary.org/obo/MONDO_0018877	retinitis punctata albescens	http://purl.obolibrary.org/obo/MONDO_0007639	fundus albipunctatus		
http://purl.obolibrary.org/obo/MONDO_0009918	fundus dystrophy, pseudoinflammatory, recessive form	http://purl.obolibrary.org/obo/MONDO_0007640	Sorsby fundus dystrophy		
http://purl.obolibrary.org/obo/MONDO_0009357	humeroradial synostosis with craniofacial anomalies	http://purl.obolibrary.org/obo/MONDO_0007737	humeroradial synostosis		
http://purl.obolibrary.org/obo/MONDO_0017550	humero-radial synostosis, unilateral	http://purl.obolibrary.org/obo/MONDO_0007737	humeroradial synostosis		
http://purl.obolibrary.org/obo/MONDO_0017551	humero-radial synostosis, bilateral	http://purl.obolibrary.org/obo/MONDO_0007737	humeroradial synostosis		
http://purl.obolibrary.org/obo/MONDO_0042980	Westphal disease	http://purl.obolibrary.org/obo/MONDO_0007739	Huntington disease		
http://purl.obolibrary.org/obo/MONDO_0859577	lacrimoauriculodentodigital syndrome 2	http://purl.obolibrary.org/obo/MONDO_0007872	LADD syndrome		
http://purl.obolibrary.org/obo/MONDO_0859578	lacrimoauriculodentodigital syndrome 3	http://purl.obolibrary.org/obo/MONDO_0007872	LADD syndrome		
http://purl.obolibrary.org/obo/MONDO_0015101	Marin-Amat syndrome	http://purl.obolibrary.org/obo/MONDO_0007946	jaw-winking syndrome		
http://purl.obolibrary.org/obo/MONDO_0013363	chromosome 2q31.1 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016953	partial duplication of the long arm of chromosome 2		
http://purl.obolibrary.org/obo/MONDO_0054593	microcephaly 18, primary, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007988	autosomal dominant primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0030928	microcephaly 26, primary, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007988	autosomal dominant primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0030929	microcephaly 27, primary, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007988	autosomal dominant primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0020738	multiple benign circumferential skin creases on limbs 1	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0014755	skin creases, congenital symmetric circumferential, 2	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0700341	monilethrix-2	http://purl.obolibrary.org/obo/MONDO_0008009	monilethrix		
http://purl.obolibrary.org/obo/MONDO_0700342	monilethrix-3	http://purl.obolibrary.org/obo/MONDO_0008009	monilethrix		
http://purl.obolibrary.org/obo/MONDO_0700343	monilethrix-1	http://purl.obolibrary.org/obo/MONDO_0008009	monilethrix		
http://purl.obolibrary.org/obo/MONDO_0958233	Bethlem myopathy 1B	http://purl.obolibrary.org/obo/MONDO_0008029	Bethlem myopathy		
http://purl.obolibrary.org/obo/MONDO_0958234	Bethlem myopathy 1C	http://purl.obolibrary.org/obo/MONDO_0008029	Bethlem myopathy		
http://purl.obolibrary.org/obo/MONDO_0024530	Bethlem myopathy 1A	http://purl.obolibrary.org/obo/MONDO_0100225	collagen 6-related myopathy		
http://purl.obolibrary.org/obo/MONDO_0034022	Bethlem myopathy 2	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		
http://purl.obolibrary.org/obo/MONDO_0035646	congenital-onset Steinert myotonic dystrophy	http://purl.obolibrary.org/obo/MONDO_0008056	myotonic dystrophy type 1		
http://purl.obolibrary.org/obo/MONDO_0018365	malignant non-epithelial tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0008170	ovarian cancer		
http://purl.obolibrary.org/obo/MONDO_0010687	nephrolithiasis, X-linked recessive, with renal failure	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0017472	patella aplasia/hypoplasia, unilateral	http://purl.obolibrary.org/obo/MONDO_0008205	patella aplasia/hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0017473	patella aplasia/hypoplasia, bilateral	http://purl.obolibrary.org/obo/MONDO_0008205	patella aplasia/hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0700286	leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical	http://purl.obolibrary.org/obo/MONDO_0008215	adult-onset autosomal dominant demyelinating leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0700295	leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical	http://purl.obolibrary.org/obo/MONDO_0008215	adult-onset autosomal dominant demyelinating leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0019322	pemphigus vegetans	http://purl.obolibrary.org/obo/MONDO_0008219	pemphigus vulgaris		
http://purl.obolibrary.org/obo/MONDO_0042979	hypokalemic periodic paralysis, type 1	http://purl.obolibrary.org/obo/MONDO_0008223	hypokalemic periodic paralysis		
http://purl.obolibrary.org/obo/MONDO_0017365	hereditary acrokeratotic poikiloderma, Weary type	http://purl.obolibrary.org/obo/MONDO_0008260	Kindler syndrome		
http://purl.obolibrary.org/obo/MONDO_0017523	polydactyly of a biphalangeal thumb, unilateral	http://purl.obolibrary.org/obo/MONDO_0008269	polydactyly of a biphalangeal thumb		
http://purl.obolibrary.org/obo/MONDO_0017524	polydactyly of a biphalangeal thumb, bilateral	http://purl.obolibrary.org/obo/MONDO_0008269	polydactyly of a biphalangeal thumb		
http://purl.obolibrary.org/obo/MONDO_0017527	polydactyly of an index finger, unilateral	http://purl.obolibrary.org/obo/MONDO_0008271	polydactyly of an index finger		
http://purl.obolibrary.org/obo/MONDO_0017528	polydactyly of an index finger, bilateral	http://purl.obolibrary.org/obo/MONDO_0008271	polydactyly of an index finger		
http://purl.obolibrary.org/obo/MONDO_0958130	Greig cephalopolysyndactyly-contiguous gene syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014243	Schaaf-Yang syndrome	http://purl.obolibrary.org/obo/MONDO_0008300	Prader-Willi syndrome		
http://purl.obolibrary.org/obo/MONDO_0015785	Prader-Willi syndrome due to translocation	http://purl.obolibrary.org/obo/MONDO_0008300	Prader-Willi syndrome		
http://purl.obolibrary.org/obo/MONDO_0015786	Prader-Willi syndrome due to imprinting mutation	http://purl.obolibrary.org/obo/MONDO_0008300	Prader-Willi syndrome		
http://purl.obolibrary.org/obo/MONDO_0020301	Prader-Willi syndrome due to paternal 15q11q13 deletion	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		
http://purl.obolibrary.org/obo/MONDO_0029132	Liddle syndrome 3	http://purl.obolibrary.org/obo/MONDO_0008323	Liddle syndrome		
http://purl.obolibrary.org/obo/MONDO_0010280	ptosis, hereditary congenital 2	http://purl.obolibrary.org/obo/MONDO_0008340	congenital ptosis		
http://purl.obolibrary.org/obo/MONDO_0009336	hemosiderosis, pulmonary, with deficiency of gamma-a globulin	http://purl.obolibrary.org/obo/MONDO_0008346	pulmonary hemosiderosis		
http://purl.obolibrary.org/obo/MONDO_0014301	dowling-degos disease 3	http://purl.obolibrary.org/obo/MONDO_0008371	Dowling-Degos disease		
http://purl.obolibrary.org/obo/MONDO_0018161	non-hereditary retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0008380	retinoblastoma		
http://purl.obolibrary.org/obo/MONDO_0023249	polyarticular juvenile rheumatoid arthritis	http://purl.obolibrary.org/obo/MONDO_0008383	rheumatoid arthritis		
http://purl.obolibrary.org/obo/MONDO_0010727	Russell-silver syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome		
http://purl.obolibrary.org/obo/MONDO_0030116	silver-russell syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome		
http://purl.obolibrary.org/obo/MONDO_0030118	silver-russell syndrome 4	http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome		
http://purl.obolibrary.org/obo/MONDO_0020795	Silver-Russell syndrome 5	http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome		
http://purl.obolibrary.org/obo/MONDO_0020796	Silver-Russell syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome		
http://purl.obolibrary.org/obo/MONDO_0014663	Silver-Russell syndrome 3	http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome		
http://purl.obolibrary.org/obo/MONDO_0016479	silver-Russell syndrome due to 7p11.2p13 microduplication	http://purl.obolibrary.org/obo/MONDO_0016944	partial duplication of the short arm of chromosome 7		
http://purl.obolibrary.org/obo/MONDO_0016480	silver-Russell syndrome due to an imprinting defect of 11p15	http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome		
http://purl.obolibrary.org/obo/MONDO_0016481	silver-Russell syndrome due to 11p15 microduplication	http://purl.obolibrary.org/obo/MONDO_0016948	partial duplication of the short arm of chromosome 11		
http://purl.obolibrary.org/obo/MONDO_0016482	silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0043162	pagon stephan syndrome	http://purl.obolibrary.org/obo/MONDO_0008428	septooptic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0010065	spinocerebellar degeneration with slow eye movements	http://purl.obolibrary.org/obo/MONDO_0008458	spinocerebellar ataxia type 2		
http://purl.obolibrary.org/obo/MONDO_0018581	progressive encephalomyelitis with rigidity and myoclonus	http://purl.obolibrary.org/obo/MONDO_0008491	stiff-person syndrome		
http://purl.obolibrary.org/obo/MONDO_0018625	classic stiff person syndrome	http://purl.obolibrary.org/obo/MONDO_0008491	stiff-person syndrome		
http://purl.obolibrary.org/obo/MONDO_0018629	focal stiff limb syndrome	http://purl.obolibrary.org/obo/MONDO_0008491	stiff-person syndrome		
http://purl.obolibrary.org/obo/MONDO_0009219	fascial dystrophy, congenital	http://purl.obolibrary.org/obo/MONDO_0008492	stiff skin syndrome		
http://purl.obolibrary.org/obo/MONDO_0020733	proximal symphalangism 1A	http://purl.obolibrary.org/obo/MONDO_0100521	NOG-related symphalangism spectrum disorder		
http://purl.obolibrary.org/obo/MONDO_0007994	micromelic bone dysplasia with cloverleaf skull	http://purl.obolibrary.org/obo/MONDO_0008547	thanatophoric dysplasia type 2		
http://purl.obolibrary.org/obo/MONDO_0017546	congenital vertical talus, unilateral	http://purl.obolibrary.org/obo/MONDO_0008652	congenital vertical talus		
http://purl.obolibrary.org/obo/MONDO_0017547	congenital vertical talus, bilateral	http://purl.obolibrary.org/obo/MONDO_0008652	congenital vertical talus		
http://purl.obolibrary.org/obo/MONDO_0100044	acrofrontofacionasal dysostosis 1	http://purl.obolibrary.org/obo/MONDO_0008715	acrofrontofacionasal dysostosis		
http://purl.obolibrary.org/obo/MONDO_0008735	adrenocortical unresponsiveness to ACTH with postreceptor defect	http://purl.obolibrary.org/obo/MONDO_0008733	familial glucocorticoid deficiency		
http://purl.obolibrary.org/obo/MONDO_0012214	glucocorticoid deficiency 3	http://purl.obolibrary.org/obo/MONDO_0008733	familial glucocorticoid deficiency		
http://purl.obolibrary.org/obo/MONDO_0016638	familial hypodysfibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0008737	congenital afibrinogenemia		
http://purl.obolibrary.org/obo/MONDO_0009754	neutropenia, lethal congenital, with eosinophilia	http://purl.obolibrary.org/obo/MONDO_0008742	autosomal dominant severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0979346	juvenile neuronal ceroid lipofuscinosis 3	http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0979347	protracted juvenile neuronal ceroid lipofuscinosis 3	http://purl.obolibrary.org/obo/MONDO_0008767	neuronal ceroid lipofuscinosis 3		
http://purl.obolibrary.org/obo/MONDO_0979344	late infantile neuronal ceroid lipofuscinosis 2	http://purl.obolibrary.org/obo/MONDO_0008769	neuronal ceroid lipofuscinosis 2		
http://purl.obolibrary.org/obo/MONDO_0979345	juvenile neuronal ceroid lipofuscinosis 2	http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0043123	massa casaer ceulemans syndrome	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		
http://purl.obolibrary.org/obo/MONDO_0043141	microdontia hypodontia short stature	http://purl.obolibrary.org/obo/MONDO_0015514	hereditary endocrine growth disease		
http://purl.obolibrary.org/obo/MONDO_0020667	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	http://purl.obolibrary.org/obo/MONDO_0008803	Antley-Bixler syndrome		
http://purl.obolibrary.org/obo/MONDO_0010242	fetal akinesia syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0008824	fetal akinesia deformation sequence		
http://purl.obolibrary.org/obo/MONDO_0008841	ataxia-telangiectasia with generalized skin pigmentation and early death	http://purl.obolibrary.org/obo/MONDO_0008840	ataxia telangiectasia		
http://purl.obolibrary.org/obo/MONDO_0971005	MHC class II deficiency 1	http://purl.obolibrary.org/obo/MONDO_0008855	MHC class II deficiency		
http://purl.obolibrary.org/obo/MONDO_0971013	MHC class II deficiency 2	http://purl.obolibrary.org/obo/MONDO_0008855	MHC class II deficiency		
http://purl.obolibrary.org/obo/MONDO_0971014	MHC class II deficiency 3	http://purl.obolibrary.org/obo/MONDO_0008855	MHC class II deficiency		
http://purl.obolibrary.org/obo/MONDO_0971015	MHC class II deficiency 4	http://purl.obolibrary.org/obo/MONDO_0008855	MHC class II deficiency		
http://purl.obolibrary.org/obo/MONDO_0971016	MHC class II deficiency 5	http://purl.obolibrary.org/obo/MONDO_0008855	MHC class II deficiency		
http://purl.obolibrary.org/obo/MONDO_0020747	sitosterolemia 1	http://purl.obolibrary.org/obo/MONDO_0008863	sitosterolemia		
http://purl.obolibrary.org/obo/MONDO_0020748	sitosterolemia 2	http://purl.obolibrary.org/obo/MONDO_0008863	sitosterolemia		
http://purl.obolibrary.org/obo/MONDO_0022573	biliary atresia intrahepatic non syndromic form	http://purl.obolibrary.org/obo/MONDO_0008867	biliary atresia		
http://purl.obolibrary.org/obo/MONDO_0022574	biliary atresia intrahepatic syndromic form	http://purl.obolibrary.org/obo/MONDO_0008867	biliary atresia		
http://purl.obolibrary.org/obo/MONDO_0009906	prenatal bowing	http://purl.obolibrary.org/obo/MONDO_0008882	congenital bowing of long bones		
http://purl.obolibrary.org/obo/MONDO_0011580	cerebellar ataxia and hypergonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0008935	cerebellar ataxia-hypogonadism syndrome		
http://purl.obolibrary.org/obo/MONDO_0007247	basal ganglia calcification, idiopathic, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0980939	basal ganglia calcification, idiopathic, 11, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008947	bilateral striopallidodentate calcinosis		
http://purl.obolibrary.org/obo/MONDO_0024538	basal ganglia calcification, idiopathic, 1	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0968977	basal ganglia calcification, idiopathic, 9, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008947	bilateral striopallidodentate calcinosis		
http://purl.obolibrary.org/obo/MONDO_0032673	basal ganglia calcification, idiopathic, 7, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0032938	basal ganglia calcification, idiopathic, 8, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0975875	basal ganglia calcification, idiopathic, 10, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008947	bilateral striopallidodentate calcinosis		
http://purl.obolibrary.org/obo/MONDO_0014004	basal ganglia calcification, idiopathic, 4	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0014204	basal ganglia calcification, idiopathic, 5	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0054738	Fraser syndrome 2	http://purl.obolibrary.org/obo/MONDO_0009046	Fraser syndrome		
http://purl.obolibrary.org/obo/MONDO_0054739	Fraser syndrome 3	http://purl.obolibrary.org/obo/MONDO_0009046	Fraser syndrome		
http://purl.obolibrary.org/obo/MONDO_0009438	hypouricemia, hypercalcinuria, and decreased bone density	http://purl.obolibrary.org/obo/MONDO_0009071	hereditary renal hypouricemia		
http://purl.obolibrary.org/obo/MONDO_0010620	hypouricemia, familial renal, due to tubular hypersecretion	http://purl.obolibrary.org/obo/MONDO_0009071	hereditary renal hypouricemia		
http://purl.obolibrary.org/obo/MONDO_0968951	hypouricemia, renal	http://purl.obolibrary.org/obo/MONDO_0009071	hereditary renal hypouricemia		
http://purl.obolibrary.org/obo/MONDO_0017110	isolated Dandy-Walker malformation with hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0009072	Dandy-Walker syndrome		
http://purl.obolibrary.org/obo/MONDO_0017111	isolated Dandy-Walker malformation without hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0009072	Dandy-Walker syndrome		
http://purl.obolibrary.org/obo/MONDO_0022930	Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia	http://purl.obolibrary.org/obo/MONDO_0009072	Dandy-Walker syndrome		
http://purl.obolibrary.org/obo/MONDO_0020749	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	http://purl.obolibrary.org/obo/MONDO_0009092	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly		
http://purl.obolibrary.org/obo/MONDO_0020750	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	http://purl.obolibrary.org/obo/MONDO_0009092	polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly		
http://purl.obolibrary.org/obo/MONDO_0017618	congenital sucrase-isomaltase deficiency with starch intolerance	http://purl.obolibrary.org/obo/MONDO_0009114	congenital sucrase-isomaltase deficiency		
http://purl.obolibrary.org/obo/MONDO_0017619	congenital sucrase-isomaltase deficiency with minimal starch tolerance	http://purl.obolibrary.org/obo/MONDO_0009114	congenital sucrase-isomaltase deficiency		
http://purl.obolibrary.org/obo/MONDO_0017620	congenital sucrase-isomaltase deficiency without starch intolerance	http://purl.obolibrary.org/obo/MONDO_0009114	congenital sucrase-isomaltase deficiency		
http://purl.obolibrary.org/obo/MONDO_0017621	congenital sucrase-isomaltase deficiency with starch and lactose intolerance	http://purl.obolibrary.org/obo/MONDO_0009114	congenital sucrase-isomaltase deficiency		
http://purl.obolibrary.org/obo/MONDO_0017622	congenital sucrase-isomaltase deficiency without sucrose intolerance	http://purl.obolibrary.org/obo/MONDO_0009114	congenital sucrase-isomaltase deficiency		
http://purl.obolibrary.org/obo/MONDO_0023250	global disaccharide intolerance	http://purl.obolibrary.org/obo/MONDO_0009114	congenital sucrase-isomaltase deficiency		
http://purl.obolibrary.org/obo/MONDO_0023513	Jeune syndrome situs inversus	http://purl.obolibrary.org/obo/MONDO_0009162	Ellis-van Creveld syndrome		
http://purl.obolibrary.org/obo/MONDO_0017691	erythrocyte galactose epimerase deficiency	http://purl.obolibrary.org/obo/MONDO_0800152	disorder of galactose and fructose metabolism		
http://purl.obolibrary.org/obo/MONDO_0017692	generalized galactose epimerase deficiency	http://purl.obolibrary.org/obo/MONDO_0800152	disorder of galactose and fructose metabolism		
http://purl.obolibrary.org/obo/MONDO_0018332	multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	http://purl.obolibrary.org/obo/MONDO_0009282	multiple acyl-CoA dehydrogenase deficiency		
http://purl.obolibrary.org/obo/MONDO_0018333	multiple acyl-CoA dehydrogenase deficiency, mild type	http://purl.obolibrary.org/obo/MONDO_0009282	multiple acyl-CoA dehydrogenase deficiency		
http://purl.obolibrary.org/obo/MONDO_0017695	glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	http://purl.obolibrary.org/obo/MONDO_0009292	glycogen storage disease due to glycogen branching enzyme deficiency		
http://purl.obolibrary.org/obo/MONDO_0017696	glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	http://purl.obolibrary.org/obo/MONDO_0009292	glycogen storage disease due to glycogen branching enzyme deficiency		
http://purl.obolibrary.org/obo/MONDO_0017697	glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0009292	glycogen storage disease due to glycogen branching enzyme deficiency		
http://purl.obolibrary.org/obo/MONDO_0017698	glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0009292	glycogen storage disease due to glycogen branching enzyme deficiency		
http://purl.obolibrary.org/obo/MONDO_0017699	glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	http://purl.obolibrary.org/obo/MONDO_0009292	glycogen storage disease due to glycogen branching enzyme deficiency		
http://purl.obolibrary.org/obo/MONDO_0017700	glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0009292	glycogen storage disease due to glycogen branching enzyme deficiency		
http://purl.obolibrary.org/obo/MONDO_0017701	glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0009292	glycogen storage disease due to glycogen branching enzyme deficiency		
http://purl.obolibrary.org/obo/MONDO_0971176	ovarian dysgenesis 11	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0020857	ovarian dysgenesis 7	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0024463	ovarian dysgenesis 1	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0030736	ovarian dysgenesis 10	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0030506	ovarian dysgenesis 9	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0054666	ovarian dysgenesis 5	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0032590	ovarian dysgenesis 8	http://purl.obolibrary.org/obo/MONDO_0009299	46 XX gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0016304	classic pantothenate kinase-associated neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0009319	pantothenate kinase-associated neurodegeneration		
http://purl.obolibrary.org/obo/MONDO_0016305	atypical pantothenate kinase-associated neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0009319	pantothenate kinase-associated neurodegeneration		
http://purl.obolibrary.org/obo/MONDO_0016855	Mowat-Wilson syndrome due to monosomy 2q22	http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2		
http://purl.obolibrary.org/obo/MONDO_0016856	Mowat-Wilson syndrome due to a ZEB2 point mutation	http://purl.obolibrary.org/obo/MONDO_0009341	Mowat-Wilson syndrome		
http://purl.obolibrary.org/obo/MONDO_0009389	hyperlysinemia due to defect in lysine transport into mitochondria	http://purl.obolibrary.org/obo/MONDO_0009388	hyperlysinemia		
http://purl.obolibrary.org/obo/MONDO_0016089	infantile Krabbe disease	http://purl.obolibrary.org/obo/MONDO_0009499	Krabbe disease		
http://purl.obolibrary.org/obo/MONDO_0016090	late-infantile/juvenile Krabbe disease	http://purl.obolibrary.org/obo/MONDO_0009499	Krabbe disease		
http://purl.obolibrary.org/obo/MONDO_0017732	alpha-mannosidosis, infantile form	http://purl.obolibrary.org/obo/MONDO_0009561	alpha-mannosidosis		
http://purl.obolibrary.org/obo/MONDO_0017733	alpha-mannosidosis, adult form	http://purl.obolibrary.org/obo/MONDO_0009561	alpha-mannosidosis		
http://purl.obolibrary.org/obo/MONDO_0014057	maple syrup urine disease, mild variant	http://purl.obolibrary.org/obo/MONDO_0009563	maple syrup urine disease		
http://purl.obolibrary.org/obo/MONDO_0009601	metaphyseal dysplasia without hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0009595	cartilage-hair hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0018828	pseudo-TORCH syndrome 2	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0020789	pseudo-TORCH syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009626	pseudo-TORCH syndrome		
http://purl.obolibrary.org/obo/MONDO_0030044	pseudo-TORCH syndrome 3	http://purl.obolibrary.org/obo/MONDO_0009626	pseudo-TORCH syndrome		
http://purl.obolibrary.org/obo/MONDO_0030471	Galloway-Mowat syndrome 9	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0030476	Galloway-Mowat syndrome 10	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0033005	Galloway-Mowat syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0033006	Galloway-Mowat syndrome 2, X-linked	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0033007	Galloway-Mowat syndrome 3	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0033008	Galloway-Mowat syndrome 4	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0033009	Galloway-Mowat syndrome 5	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0032691	Galloway-Mowat syndrome 6	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0032692	Galloway-Mowat syndrome 7	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0032693	Galloway-Mowat syndrome 8	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway-Mowat syndrome		
http://purl.obolibrary.org/obo/MONDO_0009638	mitochondrial myopathy with a defect in mitochondrial-protein transport	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		
http://purl.obolibrary.org/obo/MONDO_0010773	mitochondrial myopathy with diabetes	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		
http://purl.obolibrary.org/obo/MONDO_0013116	congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0010780	mitochondrial myopathy with reversible cytochrome C oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		
http://purl.obolibrary.org/obo/MONDO_0019016	maternally-inherited progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0020714	mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		
http://purl.obolibrary.org/obo/MONDO_0100224	mitochondrial complex I deficiency, nuclear type 1	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0044714	mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		
http://purl.obolibrary.org/obo/MONDO_0031230	mitochondrial complex II deficiency, nuclear type	http://purl.obolibrary.org/obo/MONDO_0009637	inborn mitochondrial myopathy		
http://purl.obolibrary.org/obo/MONDO_0014532	autosomal dominant mitochondrial myopathy with exercise intolerance	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0017171	mucopolysaccharidosis type 6, rapidly progressing	http://purl.obolibrary.org/obo/MONDO_0009661	mucopolysaccharidosis type 6		
http://purl.obolibrary.org/obo/MONDO_0017172	mucopolysaccharidosis type 6, slowly progressing	http://purl.obolibrary.org/obo/MONDO_0009661	mucopolysaccharidosis type 6		
http://purl.obolibrary.org/obo/MONDO_0013221	Miyoshi muscular dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0009685	Miyoshi myopathy		
http://purl.obolibrary.org/obo/MONDO_0013222	Miyoshi muscular dystrophy 3	http://purl.obolibrary.org/obo/MONDO_0009685	Miyoshi myopathy		
http://purl.obolibrary.org/obo/MONDO_0008036	myasthenia, limb-girdle, autoimmune	http://purl.obolibrary.org/obo/MONDO_0009688	myasthenia gravis		
http://purl.obolibrary.org/obo/MONDO_0011768	myasthenia gravis with thymus hyperplasia	http://purl.obolibrary.org/obo/MONDO_0009688	myasthenia gravis		
http://purl.obolibrary.org/obo/MONDO_0800305	myelofibrosis with myeloid metaplasia	http://purl.obolibrary.org/obo/MONDO_0009692	primary myelofibrosis		
http://purl.obolibrary.org/obo/MONDO_0023119	familial myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0009692	primary myelofibrosis		
http://purl.obolibrary.org/obo/MONDO_0100435	Schwartz-Jampel syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009717	Schwartz-Jampel syndrome		
http://purl.obolibrary.org/obo/MONDO_0019681	juvenile sialidosis type 2	http://purl.obolibrary.org/obo/MONDO_0009738	sialidosis type 2		
http://purl.obolibrary.org/obo/MONDO_0019682	congenital sialidosis type 2	http://purl.obolibrary.org/obo/MONDO_0009738	sialidosis type 2		
http://purl.obolibrary.org/obo/MONDO_0979340	late infantile neuronal ceroid lipofuscinosis 1	http://purl.obolibrary.org/obo/MONDO_0009744	neuronal ceroid lipofuscinosis 1		
http://purl.obolibrary.org/obo/MONDO_0979341	juvenile neuronal ceroid lipofuscinosis 1	http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0979342	adult neuronal ceroid lipofuscinosis 1	http://purl.obolibrary.org/obo/MONDO_0019260	adult neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0979348	late infantile neuronal ceroid lipofuscinosis 5	http://purl.obolibrary.org/obo/MONDO_0009745	neuronal ceroid lipofuscinosis 5		
http://purl.obolibrary.org/obo/MONDO_0979349	juvenile neuronal ceroid lipofuscinosis 5	http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0979350	adult neuronal ceroid lipofuscinosis 5	http://purl.obolibrary.org/obo/MONDO_0019260	adult neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0800308	orotic aciduria without megaloblastic anemia	http://purl.obolibrary.org/obo/MONDO_0009797	orotic aciduria		
http://purl.obolibrary.org/obo/MONDO_0008193	paralysis agitans, juvenile, of Hunt	http://purl.obolibrary.org/obo/MONDO_0009830	parkinsonian-pyramidal syndrome		
http://purl.obolibrary.org/obo/MONDO_0008184	pancreas, dorsal, agenesis of	http://purl.obolibrary.org/obo/MONDO_0009832	pancreatic agenesis		
http://purl.obolibrary.org/obo/MONDO_0975839	pancreatic agenesis 3	http://purl.obolibrary.org/obo/MONDO_0009832	pancreatic agenesis		
http://purl.obolibrary.org/obo/MONDO_0009471	intrinsic factor and r binder, combined congenital deficiency of	http://purl.obolibrary.org/obo/MONDO_0009852	hereditary intrinsic factor deficiency		
http://purl.obolibrary.org/obo/MONDO_0043191	radial defect robin sequence	http://purl.obolibrary.org/obo/MONDO_0009869	isolated Pierre-Robin syndrome		
http://purl.obolibrary.org/obo/MONDO_0020723	vitamin D-dependent rickets, type 1A	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		
http://purl.obolibrary.org/obo/MONDO_0020713	pulmonary venoocclusive disease 1	http://purl.obolibrary.org/obo/MONDO_0009937	pulmonary venoocclusive disease		
http://purl.obolibrary.org/obo/MONDO_0020741	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	http://purl.obolibrary.org/obo/MONDO_0009945	pyridoxine-dependent epilepsy		
http://purl.obolibrary.org/obo/MONDO_0009456	Immunoerythromyeloid hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009973	reticular dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0970950	Rothmund-Thomson syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0010002	Rothmund-Thomson syndrome		
http://purl.obolibrary.org/obo/MONDO_0014347	Rothmund-Thomson syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		
http://purl.obolibrary.org/obo/MONDO_0017721	Sandhoff disease, infantile form	http://purl.obolibrary.org/obo/MONDO_0010006	Sandhoff disease		
http://purl.obolibrary.org/obo/MONDO_0017722	Sandhoff disease, juvenile form	http://purl.obolibrary.org/obo/MONDO_0010006	Sandhoff disease		
http://purl.obolibrary.org/obo/MONDO_0011354	situs inversus totalis with cystic dysplasia of kidneys and pancreas	http://purl.obolibrary.org/obo/MONDO_0010029	situs inversus		
http://purl.obolibrary.org/obo/MONDO_0017724	Tay-Sachs disease, b variant, infantile form	http://purl.obolibrary.org/obo/MONDO_0010100	Tay-Sachs disease		
http://purl.obolibrary.org/obo/MONDO_0017725	Tay-Sachs disease, b variant, juvenile form	http://purl.obolibrary.org/obo/MONDO_0010100	Tay-Sachs disease		
http://purl.obolibrary.org/obo/MONDO_0017726	Tay-Sachs disease, B variant, adult form	http://purl.obolibrary.org/obo/MONDO_0010100	Tay-Sachs disease		
http://purl.obolibrary.org/obo/MONDO_0017728	Tay-Sachs disease, B1 variant	http://purl.obolibrary.org/obo/MONDO_0010100	Tay-Sachs disease		
http://purl.obolibrary.org/obo/MONDO_0010274	testicular germ cell tumor 1	http://purl.obolibrary.org/obo/MONDO_0010108	testicular germ cell tumor		
http://purl.obolibrary.org/obo/MONDO_0018193	testicular teratoma	http://purl.obolibrary.org/obo/MONDO_0010108	testicular germ cell tumor		
http://purl.obolibrary.org/obo/MONDO_0020716	thyroid dyshormonogenesis 1	http://purl.obolibrary.org/obo/MONDO_0010132	familial thyroid dyshormonogenesis		
http://purl.obolibrary.org/obo/MONDO_0017490	tibial hemimelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0010144	tibial hemimelia		
http://purl.obolibrary.org/obo/MONDO_0017491	tibial hemimelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0010144	tibial hemimelia		
http://purl.obolibrary.org/obo/MONDO_0010436	chromosome Xq28 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010283	syndromic X-linked intellectual disability Lubs type		
http://purl.obolibrary.org/obo/MONDO_0010642	Lesch-Nyhan phenotype with normal HGPRT	http://purl.obolibrary.org/obo/MONDO_0010298	Lesch-Nyhan syndrome		
http://purl.obolibrary.org/obo/MONDO_0008034	muscular dystrophy, pseudohypertrophic, with Internalized capillaries	http://purl.obolibrary.org/obo/MONDO_0010311	Becker muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0037149	HSD10 disease, atypical type	http://purl.obolibrary.org/obo/MONDO_0010327	HSD10 mitochondrial disease		
http://purl.obolibrary.org/obo/MONDO_0018670	symptomatic form of fragile X syndrome in female carrier	http://purl.obolibrary.org/obo/MONDO_0010706	premature ovarian failure 1		
http://purl.obolibrary.org/obo/MONDO_0023178	fragile X syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010383	fragile X syndrome		
http://purl.obolibrary.org/obo/MONDO_0023179	fragile X syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0010383	fragile X syndrome		
http://purl.obolibrary.org/obo/MONDO_0023180	fragile X syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0010383	fragile X syndrome		
http://purl.obolibrary.org/obo/MONDO_0010399	chromosome Xp21 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0017004	partial monosomy of the short arm of chromosome X		
http://purl.obolibrary.org/obo/MONDO_0010223	ichthyosis, X-linked, without steroid sulfatase deficiency	http://purl.obolibrary.org/obo/MONDO_0010622	recessive X-linked ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0022846	congenital nonhemolytic jaundice	http://purl.obolibrary.org/obo/MONDO_0010634	jaundice, familial obstructive, of infancy		
http://purl.obolibrary.org/obo/MONDO_0007887	leiomyoma of vulva and esophagus	http://purl.obolibrary.org/obo/MONDO_0010641	X-linked diffuse leiomyomatosis-Alport syndrome		
http://purl.obolibrary.org/obo/MONDO_0012286	myopathy, autophagic vacuolar, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0010684	X-linked myopathy with excessive autophagy		
http://purl.obolibrary.org/obo/MONDO_0009301	46,XY sex reversal 7	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0011766	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0013120	46,XY sex reversal 5	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0013664	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0020712	46,XY sex reversal 1	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0008911	cardiac lipidosis, familial	http://purl.obolibrary.org/obo/MONDO_0010771	histiocytoid cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0979370	late infantile neuronal ceroid lipofuscinosis 8	http://purl.obolibrary.org/obo/MONDO_0010830	neuronal ceroid lipofuscinosis 8		
http://purl.obolibrary.org/obo/MONDO_0017289	fetal lung interstitial tumor	http://purl.obolibrary.org/obo/MONDO_0011014	pleuropulmonary blastoma		
http://purl.obolibrary.org/obo/MONDO_0018832	HTRA1-related autosomal dominant cerebral small vessel disease	http://purl.obolibrary.org/obo/MONDO_0011057	cerebrovascular disorder		
http://purl.obolibrary.org/obo/MONDO_0020377	early-onset partial cataract	http://purl.obolibrary.org/obo/MONDO_0011060	early-onset non-syndromic cataract		
http://purl.obolibrary.org/obo/MONDO_0024466	facial paresis, hereditary congenital, 1	http://purl.obolibrary.org/obo/MONDO_0011090	isolated hereditary congenital facial paralysis		
http://purl.obolibrary.org/obo/MONDO_0020729	autosomal recessive agammaglobulinemia 1	http://purl.obolibrary.org/obo/MONDO_0011096	autosomal agammaglobulinemia		
http://purl.obolibrary.org/obo/MONDO_0979367	late infantile neuronal ceroid lipofuscinosis 6	http://purl.obolibrary.org/obo/MONDO_0011144	ceroid lipofuscinosis, neuronal, 6A		
http://purl.obolibrary.org/obo/MONDO_0979368	juvenile neuronal ceroid lipofuscinosis 6	http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0979354	sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant	http://purl.obolibrary.org/obo/MONDO_0011382	sickle cell disease		
http://purl.obolibrary.org/obo/MONDO_0024555	megalencephalic leukoencephalopathy with subcortical cysts 1	http://purl.obolibrary.org/obo/MONDO_0011391	megalencephalic leukoencephalopathy with subcortical cysts		
http://purl.obolibrary.org/obo/MONDO_0013490	megalencephalic leukoencephalopathy with subcortical cysts 2A	http://purl.obolibrary.org/obo/MONDO_0011391	megalencephalic leukoencephalopathy with subcortical cysts		
http://purl.obolibrary.org/obo/MONDO_0013491	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011391	megalencephalic leukoencephalopathy with subcortical cysts		
http://purl.obolibrary.org/obo/MONDO_0015095	Peters anomaly-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0011414	Peters anomaly		
http://purl.obolibrary.org/obo/MONDO_0018456	polyarticular juvenile idiopathic arthritis	http://purl.obolibrary.org/obo/MONDO_0011429	juvenile idiopathic arthritis		
http://purl.obolibrary.org/obo/MONDO_0971006	MHC class I deficiency 1	http://purl.obolibrary.org/obo/MONDO_0011476	MHC class I deficiency		
http://purl.obolibrary.org/obo/MONDO_0971011	MHC class I deficiency 2	http://purl.obolibrary.org/obo/MONDO_0011476	MHC class I deficiency		
http://purl.obolibrary.org/obo/MONDO_0971012	MHC class I deficiency 3	http://purl.obolibrary.org/obo/MONDO_0011476	MHC class I deficiency		
http://purl.obolibrary.org/obo/MONDO_0011114	familial multiple trichoepithelioma	http://purl.obolibrary.org/obo/MONDO_0011512	Brooke-Spiegler syndrome		
http://purl.obolibrary.org/obo/MONDO_0971068	Phelan-McDermid syndrome due to 22q13.3 deletion	http://purl.obolibrary.org/obo/MONDO_0022760	chromosome 22q deletion		
http://purl.obolibrary.org/obo/MONDO_0971069	Phelan-McDermid syndrome due to SHANK3 mutation	http://purl.obolibrary.org/obo/MONDO_0011652	Phelan-McDermid syndrome		
http://purl.obolibrary.org/obo/MONDO_0017809	parkinsonism due to ATP13A2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0030019	anauxetic dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0011773	anauxetic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0020790	gaze palsy, familial horizontal, with progressive scoliosis 1	http://purl.obolibrary.org/obo/MONDO_0011810	horizontal gaze palsy with progressive scoliosis		
http://purl.obolibrary.org/obo/MONDO_0054602	gaze palsy, familial horizontal, with progressive scoliosis, 2	http://purl.obolibrary.org/obo/MONDO_0011810	horizontal gaze palsy with progressive scoliosis		
http://purl.obolibrary.org/obo/MONDO_0016863	Okihiro syndrome due to 20q13 microdeletion	http://purl.obolibrary.org/obo/MONDO_0016918	partial deletion of the long arm of chromosome 20		
http://purl.obolibrary.org/obo/MONDO_0016864	Okihiro syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0011812	Duane-radial ray syndrome		
http://purl.obolibrary.org/obo/MONDO_0024560	PDA1	http://purl.obolibrary.org/obo/MONDO_0011827	patent ductus arteriosus		
http://purl.obolibrary.org/obo/MONDO_0014878	patent ductus arteriosus 2	http://purl.obolibrary.org/obo/MONDO_1010098	TFAP2B-related congenital heart disease spectrum disorder		
http://purl.obolibrary.org/obo/MONDO_0859574	ichthyosis, annular epidermolytic, 2	http://purl.obolibrary.org/obo/MONDO_0011870	annular epidermolytic ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0100600	hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome	http://purl.obolibrary.org/obo/MONDO_0011897	leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism		
http://purl.obolibrary.org/obo/MONDO_0011898	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012014	Charcot-Marie-Tooth disease recessive intermediate A		
http://purl.obolibrary.org/obo/MONDO_0020783	capillary malformation-arteriovenous malformation 1	http://purl.obolibrary.org/obo/MONDO_0012016	capillary malformation-arteriovenous malformation syndrome		
http://purl.obolibrary.org/obo/MONDO_0020785	capillary malformation-arteriovenous malformation 2	http://purl.obolibrary.org/obo/MONDO_0700080	EPHB4-associated vascular malformation spectrum		
http://purl.obolibrary.org/obo/MONDO_0008423	sinus node disease and myopia	http://purl.obolibrary.org/obo/MONDO_0012061	familial sick sinus syndrome		
http://purl.obolibrary.org/obo/MONDO_0859173	sick sinus syndrome 4	http://purl.obolibrary.org/obo/MONDO_0012061	familial sick sinus syndrome		
http://purl.obolibrary.org/obo/MONDO_0009890	Gillessen-Kaesbach-Nishimura syndrome	http://purl.obolibrary.org/obo/MONDO_0012117	ALG9-congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0016061	immunodeficiency with factor H anomaly	http://purl.obolibrary.org/obo/MONDO_0012350	complement factor H deficiency		
http://purl.obolibrary.org/obo/MONDO_0979372	late infantile neuronal ceroid lipofuscinosis 10	http://purl.obolibrary.org/obo/MONDO_0012414	neuronal ceroid lipofuscinosis 10		
http://purl.obolibrary.org/obo/MONDO_0979373	juvenile neuronal ceroid lipofuscinosis 10	http://purl.obolibrary.org/obo/MONDO_0019262	juvenile neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0016865	Kleefstra syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0012455	Kleefstra syndrome		
http://purl.obolibrary.org/obo/MONDO_0018216	Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016915	partial deletion of the long arm of chromosome 17		
http://purl.obolibrary.org/obo/MONDO_0018217	Koolen-de Vries syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0012496	Koolen-de Vries syndrome		
http://purl.obolibrary.org/obo/MONDO_0957264	cerebroretinal microangiopathy with calcifications and cysts 3	http://purl.obolibrary.org/obo/MONDO_0012815	Coats plus syndrome		
http://purl.obolibrary.org/obo/MONDO_0033556	muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15	http://purl.obolibrary.org/obo/MONDO_0000172	muscular dystrophy-dystroglycanopathy, type B		
http://purl.obolibrary.org/obo/MONDO_0030676	parkinsonism-dystonia 3, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0013150	parkinsonism-dystonia, infantile		
http://purl.obolibrary.org/obo/MONDO_0021105	NAFLD1	http://purl.obolibrary.org/obo/MONDO_0013209	metabolic dysfunction-associated steatotic liver disease		
http://purl.obolibrary.org/obo/MONDO_0013313	ectodermal dysplasia-cutaneous syndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0013311	ectodermal dysplasia-syndactyly syndrome		
http://purl.obolibrary.org/obo/MONDO_0018611	early-onset lamellar cataract	http://purl.obolibrary.org/obo/MONDO_0013411	cataract 16 multiple types		
http://purl.obolibrary.org/obo/MONDO_0011199	nephropathy, progressive tubulointerstitial, with cholestatic liver disease	http://purl.obolibrary.org/obo/MONDO_0013433	primary sclerosing cholangitis		
http://purl.obolibrary.org/obo/MONDO_0979288	combined immunodeficiency due to dimerization defective IKAROS mutation	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0979290	late-onset combined immunodeficiency due to ICOSL deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0979315	combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0979316	early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0979327	combined immunodeficiency with low Ig due to BCL10 deficiency	http://purl.obolibrary.org/obo/MONDO_0014491	immunodeficiency 37		
http://purl.obolibrary.org/obo/MONDO_0035694	combined immunodeficiency due to RELA haploinsufficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0975891	combined immunodeficiency due to TBX1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0044725	combined immunodeficiency due to GINS1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015131	combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0029133	muscular dystrophy, limb-girdle, autosomal dominant 4	http://purl.obolibrary.org/obo/MONDO_0015151	muscular dystrophy, limb-girdle, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0957270	muscular dystrophy, limb-girdle, autosomal recessive 28	http://purl.obolibrary.org/obo/MONDO_0015152	autosomal recessive limb-girdle muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0971171	muscular dystrophy, limb-girdle, autosomal recessive 29	http://purl.obolibrary.org/obo/MONDO_0100584	SNUPN-related muscular dystrophy with or without multi-system involvement		
http://purl.obolibrary.org/obo/MONDO_0030014	muscular dystrophy, limb-girdle, autosomal recessive 26	http://purl.obolibrary.org/obo/MONDO_0015152	autosomal recessive limb-girdle muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0030456	muscular dystrophy, limb-girdle, autosomal recessive 27	http://purl.obolibrary.org/obo/MONDO_0015152	autosomal recessive limb-girdle muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0029135	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	http://purl.obolibrary.org/obo/MONDO_0000173	muscular dystrophy-dystroglycanopathy, type C		
http://purl.obolibrary.org/obo/MONDO_0029136	muscular dystrophy, limb-girdle, autosomal recessive 23	http://purl.obolibrary.org/obo/MONDO_0100228	LAMA2-related muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0007724	hirsutism-skeletal dysplasia-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0008130	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0011145	colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0011722	intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013036	Zechi-Ceide syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013798	chromosome 16q22 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016914	partial deletion of the long arm of chromosome 16		
http://purl.obolibrary.org/obo/MONDO_0017393	blepharophimosis - intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0017284	Xp22.13p22.2 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0017009	partial duplication of the short arm of chromosome X		
http://purl.obolibrary.org/obo/MONDO_0017805	intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	http://purl.obolibrary.org/obo/MONDO_0100239	inherited hypertrophic pyloric stenosis		
http://purl.obolibrary.org/obo/MONDO_0017932	muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0018253	intellectual disability-facial dysmorphism-hand anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0018273	XYLT1-congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0015327	developmental anomaly of metabolic origin		
http://purl.obolibrary.org/obo/MONDO_0018429	14q24.1q24.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016912	partial deletion of the long arm of chromosome 14		
http://purl.obolibrary.org/obo/MONDO_0018443	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0018632	11q22.2q22.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016910	partial deletion of the long arm of chromosome 11		
http://purl.obolibrary.org/obo/MONDO_0018697	1p35.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016883	partial deletion of the short arm of chromosome 1		
http://purl.obolibrary.org/obo/MONDO_0018711	intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0018725	corpus callosum agenesis-macrocephaly-hypertelorism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0971137	severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0975887	2q13 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2		
http://purl.obolibrary.org/obo/MONDO_0975882	intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0979291	3q26q28 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016902	partial deletion of the long arm of chromosome 3		
http://purl.obolibrary.org/obo/MONDO_0044696	early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0858998	mesomelic dysplasia-digital anomalies-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0858999	KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0859000	SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0859002	intellectual disability-early-onset cataract-microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0033683	congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0034142	pancreatic agenesis-holoprosencephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014067	short ulna-dysmorphism-hypotonia-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014609	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0014881	transketolase deficiency	http://purl.obolibrary.org/obo/MONDO_0100547	cardiogenetic disease		
http://purl.obolibrary.org/obo/MONDO_0014886	severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		
http://purl.obolibrary.org/obo/MONDO_0016560	ptosis-syndactyly-learning difficulties syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0018760	DeSanto-Shinawi syndrome	http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0008786	pyridoxine-responsive sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0015194	sideroblastic anemia		
http://purl.obolibrary.org/obo/MONDO_0010832	Bardet-Biedl syndrome 3	http://purl.obolibrary.org/obo/MONDO_1040065	ARL6-related ciliopathy		
http://purl.obolibrary.org/obo/MONDO_0011523	Bardet-Biedl syndrome 6	http://purl.obolibrary.org/obo/MONDO_1040050	MKKS-related ciliopathy		
http://purl.obolibrary.org/obo/MONDO_0014433	Bardet-Biedl syndrome 4	http://purl.obolibrary.org/obo/MONDO_1040044	BBS4-related ciliopathy		
http://purl.obolibrary.org/obo/MONDO_0023670	Bardet-Biedl syndrome 20	http://purl.obolibrary.org/obo/MONDO_0015229	Bardet-Biedl syndrome		
http://purl.obolibrary.org/obo/MONDO_0011950	infantile-onset autosomal recessive nonprogressive cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0014084	ataxia with oculomotor apraxia type 3	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0020047	autosomal recessive syndromic cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0030312	spinocerebellar ataxia, autosomal recessive 29	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0030318	spinocerebellar ataxia, autosomal recessive 30	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0030323	spinocerebellar ataxia, autosomal recessive 31	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0033115	spinocerebellar ataxia, autosomal recessive 25	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0033116	spinocerebellar ataxia, autosomal recessive 26	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0032706	spinocerebellar ataxia, autosomal recessive 27	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0032923	spinocerebellar ataxia, autosomal recessive 28	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0018446	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0015653	monogenic epilepsy		
http://purl.obolibrary.org/obo/MONDO_0859245	spinocerebellar ataxia, autosomal recessive 32	http://purl.obolibrary.org/obo/MONDO_0015244	autosomal recessive cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0859360	spinocerebellar ataxia, autosomal recessive 33	http://purl.obolibrary.org/obo/MONDO_1060223	RNU12-related minor spliceopathy disorder		
http://purl.obolibrary.org/obo/MONDO_0031071	Diamond-Blackfan anemia 21	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		
http://purl.obolibrary.org/obo/MONDO_0044309	Diamond-Blackfan anemia 16	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		
http://purl.obolibrary.org/obo/MONDO_0044310	Diamond-Blackfan anemia 17	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		
http://purl.obolibrary.org/obo/MONDO_0979244	Diamond-Blackfan anemia 22	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		
http://purl.obolibrary.org/obo/MONDO_0032668	Diamond-Blackfan anemia 18	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		
http://purl.obolibrary.org/obo/MONDO_0032669	Diamond-Blackfan anemia 19	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		
http://purl.obolibrary.org/obo/MONDO_0032670	Diamond-Blackfan anemia 20	http://purl.obolibrary.org/obo/MONDO_0015253	Diamond-Blackfan anemia		
http://purl.obolibrary.org/obo/MONDO_0007257	candidiasis, familial, 1	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		
http://purl.obolibrary.org/obo/MONDO_0009534	chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		
http://purl.obolibrary.org/obo/MONDO_0009536	chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		
http://purl.obolibrary.org/obo/MONDO_0009540	chronic mucocutaneous candidiasis due to lymphokine deficiency	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		
http://purl.obolibrary.org/obo/MONDO_0009645	chronic mucocutaneous candidiasis due to monocyte chemotactic disorder	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		
http://purl.obolibrary.org/obo/MONDO_0011880	candidiasis, familial, 3	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		
http://purl.obolibrary.org/obo/MONDO_0013500	immunodeficiency 51	http://purl.obolibrary.org/obo/MONDO_0015279	chronic mucocutaneous candidiasis		
http://purl.obolibrary.org/obo/MONDO_0011525	Carney complex type 2	http://purl.obolibrary.org/obo/MONDO_0015285	Carney complex		
http://purl.obolibrary.org/obo/MONDO_0018278	congenital muscular dystrophy with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0018276	muscular dystrophy-dystroglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0800353	congenital disorder of glycosylation, type Ibb	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0022622	congenital disorder of glycosylation syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0975846	congenital disorder of glycosylation, type 1DD	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0859223	congenital disorder of glycosylation, type Iw, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015286	congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0007101	familial primary localized cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0100118	hereditary skin disorder		
http://purl.obolibrary.org/obo/MONDO_0011209	progeroid facial appearance with hand anomalies	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		
http://purl.obolibrary.org/obo/MONDO_0957266	RECON progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		
http://purl.obolibrary.org/obo/MONDO_0700300	achalasia-progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		
http://purl.obolibrary.org/obo/MONDO_0700301	Fischer-Zirnsak progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		
http://purl.obolibrary.org/obo/MONDO_0030880	mandibuloacral dysplasia progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		
http://purl.obolibrary.org/obo/MONDO_0014157	mandibular hypoplasia-deafness-progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		
http://purl.obolibrary.org/obo/MONDO_0014831	progeroid and marfanoid aspect-lipodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0859147	Marbach-Rustad progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0015333	progeroid syndrome		
http://purl.obolibrary.org/obo/MONDO_0018431	cold-induced sweating syndrome - hyperthermia spectrum	http://purl.obolibrary.org/obo/MONDO_0015364	hereditary sensory and autonomic neuropathy		
http://purl.obolibrary.org/obo/MONDO_0025699	Coffin-Siris syndrome 12	http://purl.obolibrary.org/obo/MONDO_0015452	Coffin-Siris syndrome		
http://purl.obolibrary.org/obo/MONDO_0032791	Coffin-Siris syndrome 10	http://purl.obolibrary.org/obo/MONDO_0015452	Coffin-Siris syndrome		
http://purl.obolibrary.org/obo/MONDO_0032912	Coffin-Siris syndrome 11	http://purl.obolibrary.org/obo/MONDO_0015452	Coffin-Siris syndrome		
http://purl.obolibrary.org/obo/MONDO_0007397	craniometaphyseal dysplasia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015465	craniometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0021021	craniodiaphyseal dysplasia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015465	craniometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0010903	craniosynostosis, Adelaide type	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0011347	craniosynostosis with ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0012006	craniosynostosis with ocular abnormalities and hallucal defects	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850073	non-syndromic unicoronal craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850074	non-syndromic unilambdoid craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850075	non-syndromic unifrontosphenoidal craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850076	non-syndromic unisquamosal craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850077	non-syndromic multisutural craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850078	non-syndromic non-specific multisutural craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850079	non-syndromic bilambdoid craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850080	non-syndromic unicoronal and sagittal craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850081	non-syndromic metopic and sagittal craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850082	non-syndromic bicoronal and metopic craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0850083	non-syndromic bicoronal and sagittal craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022890	craniosynostosis Fontaine type	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022891	craniosynostosis Maroteaux Fonfria type	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022892	craniosynostosis alopecia brain defect	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022893	craniosynostosis arthrogryposis cleft palate	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022894	craniosynostosis autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022895	craniosynostosis cleft lip palate arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022896	craniosynostosis contractures cleft	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022897	craniosynostosis exostoses nevus epibulbar dermoid	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0022898	craniosynostosis intellectual disability heart defects	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0043116	Iida Kannari syndrome	http://purl.obolibrary.org/obo/MONDO_0015469	craniosynostosis		
http://purl.obolibrary.org/obo/MONDO_0012069	keratoconus 3	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0012158	keratoconus 2	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0012236	keratoconus 4	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0054771	keratoconus 9	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0013830	keratoconus 5	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0013831	keratoconus 6	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0013832	keratoconus 8	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0013833	keratoconus 7	http://purl.obolibrary.org/obo/MONDO_0015486	keratoconus		
http://purl.obolibrary.org/obo/MONDO_0007814	immune deficiency, familial variable	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0009413	immunodeficiency, common variable, 2	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0011864	immunodeficiency, common variable, 1	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0013283	immunodeficiency, common variable, 3	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0013284	immunodeficiency, common variable, 4	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0054691	immunodeficiency, common variable, 14	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0013862	immunodeficiency, common variable, 7	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0013863	combined immunodeficiency due to LRBA deficiency	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0014338	IL21-related infantile inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0015535	xanthoma disseminatum	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0024617	xanthogranuloma	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0015532	generalized eruptive histiocytosis	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0015533	benign cephalic histiocytosis	http://purl.obolibrary.org/obo/MONDO_0015531	non-Langerhans cell histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0018003	limbic encephalitis with DPP6 antibodies	http://purl.obolibrary.org/obo/MONDO_0015588	limbic encephalitis		
http://purl.obolibrary.org/obo/MONDO_0031044	advance sleep phase syndrome, familial, 4	http://purl.obolibrary.org/obo/MONDO_0015609	advanced sleep phase syndrome		
http://purl.obolibrary.org/obo/MONDO_0010155	Dorfman-Chanarin disease	http://purl.obolibrary.org/obo/MONDO_0015611	neutral lipid storage disease		
http://purl.obolibrary.org/obo/MONDO_0012545	neutral lipid storage myopathy	http://purl.obolibrary.org/obo/MONDO_0015611	neutral lipid storage disease		
http://purl.obolibrary.org/obo/MONDO_0007310	Charcot-Marie-Tooth disease, Guadalajara neuronal type	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0007312	Charcot-Marie-Tooth disease with ptosis and parkinsonism	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0007790	Charcot-Marie-Tooth disease type 3	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0018778	intermediate Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0980963	Charcot-Marie-Tooth disease, axonal, type 2KK	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0980969	Charcot-Marie-Tooth disease, axonal, type 2LL	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0980971	charcot-marie-tooth disease, axonal, type 2MM	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0030677	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	http://purl.obolibrary.org/obo/MONDO_0700277	POLR3B-related disorder		
http://purl.obolibrary.org/obo/MONDO_0030689	Charcot-Marie-Tooth disease, demyelinating, IIA 1H	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0031068	Charcot-Marie-Tooth disease, axonal, IIa 2II	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0030433	Charcot-Marie-Tooth disease, axonal, type 2FF	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0030458	Charcot-Marie-Tooth disease, axonal, Type 2HH	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0976227	Charcot-Marie-tooth disease, axonal, type 2JJ	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0859311	Charcot-Marie-Tooth disease, demyelinating, type 1J	http://purl.obolibrary.org/obo/MONDO_0015626	Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0012305	photoparoxysmal response 3	http://purl.obolibrary.org/obo/MONDO_0015643	photosensitive epilepsy		
http://purl.obolibrary.org/obo/MONDO_0012304	photoparoxysmal response 2	http://purl.obolibrary.org/obo/MONDO_0015643	photosensitive epilepsy		
http://purl.obolibrary.org/obo/MONDO_0017833	primary hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome		
http://purl.obolibrary.org/obo/MONDO_0017834	secondary hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0015691	hypereosinophilic syndrome		
http://purl.obolibrary.org/obo/MONDO_0014346	white sponge nevus 2	http://purl.obolibrary.org/obo/MONDO_0015748	hereditary mucosal leukokeratosis		
http://purl.obolibrary.org/obo/MONDO_0800366	dyskeratosis congenita, autosomal dominant 4	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		
http://purl.obolibrary.org/obo/MONDO_0800370	dyskeratosis congenita, autosomal recessive 7	http://purl.obolibrary.org/obo/MONDO_0100569	ACD-related short telomere syndrome		
http://purl.obolibrary.org/obo/MONDO_0031057	dyskeratosis congenita, digenic	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		
http://purl.obolibrary.org/obo/MONDO_0859319	dyskeratosis congenita, autosomal recessive 8	http://purl.obolibrary.org/obo/MONDO_0015780	dyskeratosis congenita		
http://purl.obolibrary.org/obo/MONDO_0850127	epithelioid inflammatory myofibroblastic sarcoma	http://purl.obolibrary.org/obo/MONDO_0015798	inflammatory myofibroblastic tumor		
http://purl.obolibrary.org/obo/MONDO_0957536	intellectual developmental disorder, autosomal dominant 73	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0020847	intellectual disability, autosomal dominant 58	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030910	intellectual disability, autosomal dominant 45	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030911	intellectual disability, autosomal dominant 46	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030914	Clark-Baraitser syndrome	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030916	intellectual disability, autosomal dominant 50	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030917	intellectual disability, autosomal dominant 51	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030918	intellectual disability, autosomal dominant 52	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030919	intellectual disability, autosomal dominant 53	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030920	intellectual disability, autosomal dominant 54	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030921	intellectual disability, autosomal dominant 55, with seizures	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030922	intellectual disability, autosomal dominant 56	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0054837	intellectual disability, autosomal dominant 57	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032485	intellectual developmental disorder 61	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032795	intellectual developmental disorder 59	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032823	intellectual developmental disorder 60 with seizures	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032919	intellectual developmental disorder 62	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032939	intellectual developmental disorder, autosomal dominant 63, with macrocephaly	http://purl.obolibrary.org/obo/MONDO_0015802	autosomal dominant non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0021272	inherited orthostatic hypotension	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0017026	interstitial lung disease specific to adulthood	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		
http://purl.obolibrary.org/obo/MONDO_0017039	drug or radiation exposure-related interstitial lung disease	http://purl.obolibrary.org/obo/MONDO_0015925	interstitial lung disease		
http://purl.obolibrary.org/obo/MONDO_0022745	mixed dust pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0015926	pneumoconiosis		
http://purl.obolibrary.org/obo/MONDO_0018197	mitochondrial DNA depletion syndrome, hepatocerebrorenal form	http://purl.obolibrary.org/obo/MONDO_0100512	mitochondrial DNA depletion syndrome, hepatocerebral form		
http://purl.obolibrary.org/obo/MONDO_0010296	immunodeficiency 61	http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia		
http://purl.obolibrary.org/obo/MONDO_0018338	activated PI3K-delta syndrome	http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia		
http://purl.obolibrary.org/obo/MONDO_0859234	agammaglobulinemia 8b, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015977	agammaglobulinemia		
http://purl.obolibrary.org/obo/MONDO_0010905	cone-rod dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		
http://purl.obolibrary.org/obo/MONDO_0011355	cone-rod dystrophy 7	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010443	macular degeneration, X-linked atrophic	http://purl.obolibrary.org/obo/MONDO_0100437	RPGR-related retinopathy		
http://purl.obolibrary.org/obo/MONDO_0800326	cone-rod dystrophy 14	http://purl.obolibrary.org/obo/MONDO_0700376	GUCA1A-related retinopathy		
http://purl.obolibrary.org/obo/MONDO_0957240	cone-rod dystrophy 24	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		
http://purl.obolibrary.org/obo/MONDO_0030440	cone-rod dystrophy 22	http://purl.obolibrary.org/obo/MONDO_0015993	cone-rod dystrophy		
http://purl.obolibrary.org/obo/MONDO_0958262	isolated primary pigmented nodular adrenocortical disease	http://purl.obolibrary.org/obo/MONDO_0015999	primary pigmented nodular adrenocortical disease		
http://purl.obolibrary.org/obo/MONDO_0010021	seizures, benign familial neonatal, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016027	benign neonatal seizures		
http://purl.obolibrary.org/obo/MONDO_0011990	seizures, benign familial neonatal, 3	http://purl.obolibrary.org/obo/MONDO_0016027	benign neonatal seizures		
http://purl.obolibrary.org/obo/MONDO_0035149	secondary erythromelalgia	http://purl.obolibrary.org/obo/MONDO_0016028	erythromelalgia		
http://purl.obolibrary.org/obo/MONDO_0010471	Cornelia de Lange syndrome 5	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		
http://purl.obolibrary.org/obo/MONDO_0016039	infantile digital fibromatosis	http://purl.obolibrary.org/obo/MONDO_0016037	superficial Fibromatosis		
http://purl.obolibrary.org/obo/MONDO_0042961	sacral hemangiomas multiple congenital abnormalities	http://purl.obolibrary.org/obo/MONDO_0016063	Cowden disease		
http://purl.obolibrary.org/obo/MONDO_0971092	soft and hard cleft palate	http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate		
http://purl.obolibrary.org/obo/MONDO_0015092	cleft hard palate	http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate		
http://purl.obolibrary.org/obo/MONDO_0015479	submucosal cleft palate	http://purl.obolibrary.org/obo/MONDO_0016064	cleft palate		
http://purl.obolibrary.org/obo/MONDO_0011563	fibromatosis, gingival, 2	http://purl.obolibrary.org/obo/MONDO_0016070	hereditary gingival fibromatosis		
http://purl.obolibrary.org/obo/MONDO_0012378	fibromatosis, gingival, 3	http://purl.obolibrary.org/obo/MONDO_0016070	hereditary gingival fibromatosis		
http://purl.obolibrary.org/obo/MONDO_0012598	fibromatosis, gingival, 4	http://purl.obolibrary.org/obo/MONDO_0016070	hereditary gingival fibromatosis		
http://purl.obolibrary.org/obo/MONDO_0033493	fibromatosis, gingival, 5	http://purl.obolibrary.org/obo/MONDO_0016070	hereditary gingival fibromatosis		
http://purl.obolibrary.org/obo/MONDO_0975841	fibromatosis, gingival, 6	http://purl.obolibrary.org/obo/MONDO_0016070	hereditary gingival fibromatosis		
http://purl.obolibrary.org/obo/MONDO_0018759	childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0014800	progressive scapulohumeroperoneal distal myopathy	http://purl.obolibrary.org/obo/MONDO_0100084	alpha-actinopathy		
http://purl.obolibrary.org/obo/MONDO_0035647	childhood-onset Steinert myotonic dystrophy	http://purl.obolibrary.org/obo/MONDO_0016107	myotonic dystrophy		
http://purl.obolibrary.org/obo/MONDO_0035648	juvenile-onset Steinert myotonic dystrophy	http://purl.obolibrary.org/obo/MONDO_0016107	myotonic dystrophy		
http://purl.obolibrary.org/obo/MONDO_0035649	adult-onset Steinert myotonic dystrophy	http://purl.obolibrary.org/obo/MONDO_0016107	myotonic dystrophy		
http://purl.obolibrary.org/obo/MONDO_0035650	late-onset Steinert myotonic dystrophy	http://purl.obolibrary.org/obo/MONDO_0016107	myotonic dystrophy		
http://purl.obolibrary.org/obo/MONDO_0033613	neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0016226	specific language disorder	http://purl.obolibrary.org/obo/MONDO_0016225	specific learning disability		
http://purl.obolibrary.org/obo/MONDO_0014476	episodic ataxia type 8	http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia		
http://purl.obolibrary.org/obo/MONDO_0030064	episodic ataxia, type 9	http://purl.obolibrary.org/obo/MONDO_0016227	hereditary episodic ataxia		
http://purl.obolibrary.org/obo/MONDO_0018159	atypical hemolytic-uremic syndrome with DGKE deficiency	http://purl.obolibrary.org/obo/MONDO_0016244	atypical hemolytic-uremic syndrome		
http://purl.obolibrary.org/obo/MONDO_0035290	atypical hemolytic uremic syndrome with complement gene abnormality	http://purl.obolibrary.org/obo/MONDO_0016244	atypical hemolytic-uremic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032564	hennekam lymphangiectasia-lymphedema syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016256	Hennekam syndrome		
http://purl.obolibrary.org/obo/MONDO_0008768	ceroid lipofuscinosis, neuronal, 6B (Kufs type)	http://purl.obolibrary.org/obo/MONDO_0016295	neuronal ceroid lipofuscinosis		
http://purl.obolibrary.org/obo/MONDO_0976262	holoprosencephaly 10	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		
http://purl.obolibrary.org/obo/MONDO_0026763	holoprosencephaly 13, X-linked	http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive disease		
http://purl.obolibrary.org/obo/MONDO_0030886	holoprosencephaly 14	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		
http://purl.obolibrary.org/obo/MONDO_0032787	holoprosencephaly 12 with or without pancreatic agenesis	http://purl.obolibrary.org/obo/MONDO_0016296	holoprosencephaly		
http://purl.obolibrary.org/obo/MONDO_0011051	lethal short-limb skeletal dysplasia, Al Gazali type	http://purl.obolibrary.org/obo/MONDO_0016357	dysplastic cortical hyperostosis		
http://purl.obolibrary.org/obo/MONDO_0032819	hypothyroidism, congenital, nongoitrous, 7	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		
http://purl.obolibrary.org/obo/MONDO_0012949	aneurysm, intracranial berry, 9	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0010468	aneurysm, intracranial berry, 5	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0012053	aneurysm, intracranial berry, 2	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0012194	aneurysm, intracranial berry, 3	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0012443	aneurysm, intracranial berry, 4	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0012752	aneurysm, intracranial berry, 6	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0012810	aneurysm, intracranial berry, 7	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0012811	aneurysm, intracranial berry, 8	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0012950	aneurysm, intracranial berry, 10	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0032891	aneurysm, intracranial berry, 12	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0007111	aneurysm, intracranial berry type 1	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0013654	aneurysm, intracranial berry, 11	http://purl.obolibrary.org/obo/MONDO_0016483	intracranial berry aneurysm		
http://purl.obolibrary.org/obo/MONDO_0010465	Kabuki syndrome 2	http://purl.obolibrary.org/obo/MONDO_0016512	Kabuki syndrome		
http://purl.obolibrary.org/obo/MONDO_0014875	hyperaldosteronism, familial, type IV	http://purl.obolibrary.org/obo/MONDO_0016525	familial hyperaldosteronism		
http://purl.obolibrary.org/obo/MONDO_0044921	atypical lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0060782	premalignant hematological system disease		
http://purl.obolibrary.org/obo/MONDO_0034054	severe combined immunodeficiency due to CD70 deficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0100186	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	http://purl.obolibrary.org/obo/MONDO_0100184	GTP cyclohydrolase I deficiency		
http://purl.obolibrary.org/obo/MONDO_0008984	ciliary discoordination due to random ciliary orientation	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0008985	ciliary dyskinesia with transposition of ciliary microtubules	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0009449	ciliary dyskinesia with defective radial spokes	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0009450	ciliary dyskinesia with excessively long cilia	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0957252	ciliary dyskinesia, primary, 50	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0957396	ciliary dyskinesia, primary, 51	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0030332	ciliary dyskinesia, primary, 46	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0030346	ciliary dyskinesia, primary, 47, and lissencephaly	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0031054	ciliary dyskinesia, primary, 48, without situs inversus	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0033204	ciliary dyskinesia, primary, 37	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0054843	ciliary dyskinesia, primary, 38	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0032637	ciliary dyskinesia, primary, 39	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0032664	ciliary dyskinesia, primary, 40	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0032757	ciliary dyskinesia, primary, 41	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0032872	ciliary dyskinesia, primary, 42	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0032874	ciliary dyskinesia, primary, 43	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0032914	ciliary dyskinesia, primary, 44	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0032924	ciliary dyskinesia, primary, 45	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0859353	ciliary dyskinesia, primary, 49, without situs inversus	http://purl.obolibrary.org/obo/MONDO_0016575	primary ciliary dyskinesia		
http://purl.obolibrary.org/obo/MONDO_0017248	congenital pulmonary airway malformation type 0	http://purl.obolibrary.org/obo/MONDO_0016580	congenital pulmonary airway malformation		
http://purl.obolibrary.org/obo/MONDO_0017249	congenital pulmonary airway malformation type 1	http://purl.obolibrary.org/obo/MONDO_0016580	congenital pulmonary airway malformation		
http://purl.obolibrary.org/obo/MONDO_0017250	congenital pulmonary airway malformation type 2	http://purl.obolibrary.org/obo/MONDO_0016580	congenital pulmonary airway malformation		
http://purl.obolibrary.org/obo/MONDO_0017251	congenital pulmonary airway malformation type 3	http://purl.obolibrary.org/obo/MONDO_0016580	congenital pulmonary airway malformation		
http://purl.obolibrary.org/obo/MONDO_0017252	congenital pulmonary airway malformation type 4	http://purl.obolibrary.org/obo/MONDO_0016580	congenital pulmonary airway malformation		
http://purl.obolibrary.org/obo/MONDO_0009544	macrocephaly/megalencephaly syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0013983	ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016619	autosomal recessive hypohidrotic ectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0011648	radiation-induced meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	meningioma		
http://purl.obolibrary.org/obo/MONDO_0011082	oculoauriculofrontonasal syndrome	http://purl.obolibrary.org/obo/MONDO_0016643	frontonasal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0013271	frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	http://purl.obolibrary.org/obo/MONDO_0016643	frontonasal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0054680	epiphyseal dysplasia, multiple, 7	http://purl.obolibrary.org/obo/MONDO_0016648	multiple epiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0011372	microcephaly with simplified gyral pattern	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0011437	microcephaly 4, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0011435	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0030339	microcephaly 28, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0031060	microcephaly 29, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0054716	microcephaly 19, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0054804	microcephaly 21, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0054806	microcephaly 23, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0032583	microcephaly 24, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0032694	microcephaly 25, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0014660	microcephaly 15, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0014730	microcephaly 16, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0859342	microcephaly 30, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016660	autosomal recessive primary microcephaly		
http://purl.obolibrary.org/obo/MONDO_0971118	pilocytic astrocytoma with histological features of anaplasia	http://purl.obolibrary.org/obo/MONDO_0016691	pilocytic astrocytoma		
http://purl.obolibrary.org/obo/MONDO_0016752	benign peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0016749	tumor of cranial and spinal nerves		
http://purl.obolibrary.org/obo/MONDO_0010190	pontocerebellar hypoplasia type 2A	http://purl.obolibrary.org/obo/MONDO_0016759	pontocerebellar hypoplasia type 2		
http://purl.obolibrary.org/obo/MONDO_0011856	spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0011939	Spondyloenchondrodysplasia with immune dysregulation	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0012185	spondylometaphyseal dysplasia, A4 type	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0012713	spondylometaphyseal dysplasia, East African type	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0018255	spondylometaphyseal dysplasia, Czarny-Ratajczak type	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0018663	regressive spondylometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0850096	SBDS-related severe neonatal spondylometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0030487	spondylometaphyseal dysplasia, pagnamenta type	http://purl.obolibrary.org/obo/MONDO_0016763	spondylometaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0981050	Meier-Gorlin syndrome 10	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		
http://purl.obolibrary.org/obo/MONDO_0033046	Meier-Gorlin syndrome 8	http://purl.obolibrary.org/obo/MONDO_0016817	Meier-Gorlin syndrome		
http://purl.obolibrary.org/obo/MONDO_0009649	moyamoya disease 1	http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease		
http://purl.obolibrary.org/obo/MONDO_0012122	moyamoya disease 3	http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease		
http://purl.obolibrary.org/obo/MONDO_0980949	Moyamoya disease 8	http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease		
http://purl.obolibrary.org/obo/MONDO_0958202	moyamoya disease 7	http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease		
http://purl.obolibrary.org/obo/MONDO_0010657	methylmalonic acidemia with homocystinuria, type cblX	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013925	methylmalonic acidemia with homocystinuria, type cblJ	http://purl.obolibrary.org/obo/MONDO_0016826	methylmalonic aciduria and homocystinuria		
http://purl.obolibrary.org/obo/MONDO_0975798	methylmalonic aciduria and homocystinuria, cb1L type	http://purl.obolibrary.org/obo/MONDO_0016826	methylmalonic aciduria and homocystinuria		
http://purl.obolibrary.org/obo/MONDO_0030896	chromosome 13q33-q34 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016911	partial deletion of the long arm of chromosome 13		
http://purl.obolibrary.org/obo/MONDO_0013672	chromosome 15q25 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016913	partial deletion of the long arm of chromosome 15		
http://purl.obolibrary.org/obo/MONDO_0016959	partial duplication of the long arm of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0016929	partial duplication of chromosome 8		
http://purl.obolibrary.org/obo/MONDO_0035432	POMGNT2-related limb-girdle muscular dystrophy R24	http://purl.obolibrary.org/obo/MONDO_0016971	limb-girdle muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010114	thanatophoric dysplasia, Glasgow variant	http://purl.obolibrary.org/obo/MONDO_0017042	thanatophoric dysplasia		
http://purl.obolibrary.org/obo/MONDO_0009800	Blount disease, adolescent	http://purl.obolibrary.org/obo/MONDO_0017194	Blount disease		
http://purl.obolibrary.org/obo/MONDO_0034143	early-onset calcifying leukoencephalopathy-skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0014080	osteosclerotic metaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0017198	osteopetrosis		
http://purl.obolibrary.org/obo/MONDO_0017685	vitamin B12-responsive methylmalonic acidemia, type cblDv2	http://purl.obolibrary.org/obo/MONDO_0100463	methylmalonic aciduria and/or homocystinuria, cblD type		
http://purl.obolibrary.org/obo/MONDO_0011218	autosomal recessive congenital ichthyosis 11	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0033091	ichthyosis, congenital, autosomal recessive 14	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0033092	ichthyosis, congenital, autosomal recessive 13	http://purl.obolibrary.org/obo/MONDO_0017265	autosomal recessive congenital ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0010360	Parkinson disease 12	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0011220	Parkinson disease 3, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0011737	Parkinson disease 10	http://purl.obolibrary.org/obo/MONDO_0017279	young-onset Parkinson disease		
http://purl.obolibrary.org/obo/MONDO_0033047	Perrault syndrome 6	http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome		
http://purl.obolibrary.org/obo/MONDO_0976232	Perrault syndrome 7	http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome		
http://purl.obolibrary.org/obo/MONDO_0009334	hemolytic anemia with thermal sensitivity of red cells	http://purl.obolibrary.org/obo/MONDO_0017319	hereditary elliptocytosis		
http://purl.obolibrary.org/obo/MONDO_0014561	3-methylglutaconic aciduria, type VIIB	http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria		
http://purl.obolibrary.org/obo/MONDO_0044724	3-methylglutaconic aciduria type 9	http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria		
http://purl.obolibrary.org/obo/MONDO_0859237	3-methylglutaconic aciduria, type VIIA	http://purl.obolibrary.org/obo/MONDO_0017359	3-methylglutaconic aciduria		
http://purl.obolibrary.org/obo/MONDO_0859154	Bartsocas-Papas syndrome 2	http://purl.obolibrary.org/obo/MONDO_0017435	popliteal pterygium syndrome		
http://purl.obolibrary.org/obo/MONDO_0981031	lethal congenital contracture syndrome 12	http://purl.obolibrary.org/obo/MONDO_0017436	lethal congenital contracture syndrome		
http://purl.obolibrary.org/obo/MONDO_0017535	central polydactyly of fingers, unilateral	http://purl.obolibrary.org/obo/MONDO_0017456	central polydactyly of fingers		
http://purl.obolibrary.org/obo/MONDO_0017536	central polydactyly of fingers, bilateral	http://purl.obolibrary.org/obo/MONDO_0017456	central polydactyly of fingers		
http://purl.obolibrary.org/obo/MONDO_0017537	Preaxial polydactyly of toes, unilateral	http://purl.obolibrary.org/obo/MONDO_0017457	Preaxial polydactyly of toes		
http://purl.obolibrary.org/obo/MONDO_0017538	Preaxial polydactyly of toes, bilateral	http://purl.obolibrary.org/obo/MONDO_0017457	Preaxial polydactyly of toes		
http://purl.obolibrary.org/obo/MONDO_0017562	congenital patella dislocation, unilateral	http://purl.obolibrary.org/obo/MONDO_0017471	congenital patella dislocation		
http://purl.obolibrary.org/obo/MONDO_0017563	congenital patella dislocation, bilateral	http://purl.obolibrary.org/obo/MONDO_0017471	congenital patella dislocation		
http://purl.obolibrary.org/obo/MONDO_0017564	macrodactyly of fingers, unilateral	http://purl.obolibrary.org/obo/MONDO_0017474	macrodactyly of fingers		
http://purl.obolibrary.org/obo/MONDO_0017565	macrodactyly of fingers, bilateral	http://purl.obolibrary.org/obo/MONDO_0017474	macrodactyly of fingers		
http://purl.obolibrary.org/obo/MONDO_0017566	macrodactyly of toes, unilateral	http://purl.obolibrary.org/obo/MONDO_0017475	macrodactyly of toes		
http://purl.obolibrary.org/obo/MONDO_0017567	macrodactyly of toes, bilateral	http://purl.obolibrary.org/obo/MONDO_0017475	macrodactyly of toes		
http://purl.obolibrary.org/obo/MONDO_0012317	visceral neuropathy, familial, 3, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0017574	chronic intestinal pseudoobstruction		
http://purl.obolibrary.org/obo/MONDO_0015191	myopathic intestinal pseudoobstruction	http://purl.obolibrary.org/obo/MONDO_0017574	chronic intestinal pseudoobstruction		
http://purl.obolibrary.org/obo/MONDO_0009915	46,XX disorder of sex development-skeletal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0017576	46,XX disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0800381	46,XX true hermaphroditism, SRY-positive	http://purl.obolibrary.org/obo/MONDO_0017576	46,XX disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0043131	Michels Caskey syndrome	http://purl.obolibrary.org/obo/MONDO_0017576	46,XX disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0016981	infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	http://purl.obolibrary.org/obo/MONDO_0017578	disorder of thiamine metabolism and transport		
http://purl.obolibrary.org/obo/MONDO_0012190	epidermolysis bullosa simplex 7, with nephropathy and deafness	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0030489	epidermolysis bullosa simplex 2A, generalized severe	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0030525	epidermolysis bullosa simplex 2B, generalized intermediate	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0030527	epidermolysis bullosa simplex 2C, localized	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0030535	epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0014014	epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0014180	epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0016514	epidermolysis bullosa simplex with anodontia/hypodontia	http://purl.obolibrary.org/obo/MONDO_0017610	epidermolysis bullosa simplex		
http://purl.obolibrary.org/obo/MONDO_0009177	late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		
http://purl.obolibrary.org/obo/MONDO_0859233	epidermolysis bullosa, junctional 6, with pyloric atresia	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		
http://purl.obolibrary.org/obo/MONDO_0030746	epidermolysis bullosa, junctional 2A, intermediate	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		
http://purl.obolibrary.org/obo/MONDO_0030747	epidermolysis bullosa, junctional 2B, severe	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		
http://purl.obolibrary.org/obo/MONDO_0030748	epidermolysis bullosa, junctional 3A, intermediate	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		
http://purl.obolibrary.org/obo/MONDO_0030749	epidermolysis bullosa, junctional 3B, severe	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		
http://purl.obolibrary.org/obo/MONDO_0030750	epidermolysis bullosa, junctional 4, intermediate	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		
http://purl.obolibrary.org/obo/MONDO_0030768	epidermolysis bullosa, junctional 5A, intermediate	http://purl.obolibrary.org/obo/MONDO_0017612	junctional epidermolysis bullosa		
http://purl.obolibrary.org/obo/MONDO_0011593	seizures, benign familial infantile, 2	http://purl.obolibrary.org/obo/MONDO_0100556	PRRT2-associated paroxysmal movement disorder		
http://purl.obolibrary.org/obo/MONDO_0012965	seizures, benign familial infantile, 4	http://purl.obolibrary.org/obo/MONDO_0017615	benign familial infantile epilepsy		
http://purl.obolibrary.org/obo/MONDO_0042499	benign familial neonatal-infantile seizures 1	http://purl.obolibrary.org/obo/MONDO_0017615	benign familial infantile epilepsy		
http://purl.obolibrary.org/obo/MONDO_0017677	focal acral hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0017675	punctate palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0975925	adenoid ameloblastoma	http://purl.obolibrary.org/obo/MONDO_0017795	ameloblastoma		
http://purl.obolibrary.org/obo/MONDO_0011755	senior-loken syndrome 3	http://purl.obolibrary.org/obo/MONDO_0017842	Senior-Loken syndrome		
http://purl.obolibrary.org/obo/MONDO_0032753	spastic ataxia 9, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017845	spastic ataxia		
http://purl.obolibrary.org/obo/MONDO_0014803	spasticity-ataxia-gait anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0018424	inherited lipoic acid biosynthesis defect		
http://purl.obolibrary.org/obo/MONDO_0018853	transgrediens et progrediens palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis		
http://purl.obolibrary.org/obo/MONDO_0033012	erythrokeratodermia variabilis et progressiva 2	http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis		
http://purl.obolibrary.org/obo/MONDO_0033013	erythrokeratodermia variabilis et progressiva 3	http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis		
http://purl.obolibrary.org/obo/MONDO_0033014	erythrokeratodermia variabilis et progressiva 4	http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis		
http://purl.obolibrary.org/obo/MONDO_0033015	erythrokeratodermia variabilis et progressiva 5	http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis		
http://purl.obolibrary.org/obo/MONDO_0030941	erythrokeratodermia variabilis et progressiva 7	http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis		
http://purl.obolibrary.org/obo/MONDO_0032801	erythrokeratodermia variabilis et progressiva 6	http://purl.obolibrary.org/obo/MONDO_0017851	erythrokeratodermia variabilis		
http://purl.obolibrary.org/obo/MONDO_0054752	multiple synostoses syndrome 4	http://purl.obolibrary.org/obo/MONDO_0017923	multiple synostoses syndrome		
http://purl.obolibrary.org/obo/MONDO_0011158	autoimmune lymphoproliferative syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0017979	autoimmune lymphoproliferative syndrome		
http://purl.obolibrary.org/obo/MONDO_0800374	ventricular tachycardia, catecholaminergic polymorphic 6	http://purl.obolibrary.org/obo/MONDO_0017990	catecholaminergic polymorphic ventricular tachycardia		
http://purl.obolibrary.org/obo/MONDO_0012066	atrial fibrillation, familial, 1	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		
http://purl.obolibrary.org/obo/MONDO_0800345	atrial fibrillation, familial, 17	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		
http://purl.obolibrary.org/obo/MONDO_0800349	atrial fibrillation, familial, 16	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		
http://purl.obolibrary.org/obo/MONDO_0012167	atrial fibrillation, familial, 2	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		
http://purl.obolibrary.org/obo/MONDO_0012678	atrial fibrillation, familial, 5	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		
http://purl.obolibrary.org/obo/MONDO_0013100	atrial fibrillation, familial, 8	http://purl.obolibrary.org/obo/MONDO_0018054	familial atrial fibrillation		
http://purl.obolibrary.org/obo/MONDO_0007537	lateral meningocele syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0017087	neurenteric cyst	http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect		
http://purl.obolibrary.org/obo/MONDO_0017088	isolated amyelia	http://purl.obolibrary.org/obo/MONDO_0018075	neural tube defect		
http://purl.obolibrary.org/obo/MONDO_0014314	sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0957461	primary tuberculous lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		
http://purl.obolibrary.org/obo/MONDO_0957463	primary bone and joint tuberculosis	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		
http://purl.obolibrary.org/obo/MONDO_0957465	multifocal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		
http://purl.obolibrary.org/obo/MONDO_0957466	primary tuberculosis of the digestive system	http://purl.obolibrary.org/obo/MONDO_0018076	tuberculosis		
http://purl.obolibrary.org/obo/MONDO_0007601	familial Mediterranean fever, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018088	familial Mediterranean fever		
http://purl.obolibrary.org/obo/MONDO_0018498	double outlet right ventricle with subaortic or doubly committed ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0018089	double outlet right ventricle		
http://purl.obolibrary.org/obo/MONDO_0018499	double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy	http://purl.obolibrary.org/obo/MONDO_0018089	double outlet right ventricle		
http://purl.obolibrary.org/obo/MONDO_0030983	Waardenburg syndrome 2F	http://purl.obolibrary.org/obo/MONDO_0018094	Waardenburg syndrome		
http://purl.obolibrary.org/obo/MONDO_0013176	Weill-Marchesani 4 syndrome, recessive	http://purl.obolibrary.org/obo/MONDO_0018096	Weill-Marchesani syndrome		
http://purl.obolibrary.org/obo/MONDO_0850088	EGF-related primary hypomagnesemia with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0018100	familial primary hypomagnesemia		
http://purl.obolibrary.org/obo/MONDO_0859328	hypomagnesemia 7, renal, with or without dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0018100	familial primary hypomagnesemia		
http://purl.obolibrary.org/obo/MONDO_0007936	macular dystrophy, fenestrated sheen type	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010800	Wolfram syndrome, mitochondrial form	http://purl.obolibrary.org/obo/MONDO_0018105	Wolfram syndrome		
http://purl.obolibrary.org/obo/MONDO_0030105	galactosemia 4	http://purl.obolibrary.org/obo/MONDO_0800152	disorder of galactose and fructose metabolism		
http://purl.obolibrary.org/obo/MONDO_0958129	COQ7-related distal hereditary motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0033615	coenzyme q10 deficiency, primary, 9	http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency		
http://purl.obolibrary.org/obo/MONDO_0013836	familial steroid-resistant nephrotic syndrome with sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0014562	neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0018151	coenzyme Q10 deficiency		
http://purl.obolibrary.org/obo/MONDO_0012708	primary lateral sclerosis, adult, 1	http://purl.obolibrary.org/obo/MONDO_0018155	lateral sclerosis		
http://purl.obolibrary.org/obo/MONDO_0011283	mitochondrial DNA depletion syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017575	mitochondrial neurogastrointestinal encephalomyopathy		
http://purl.obolibrary.org/obo/MONDO_0013350	mitochondrial DNA depletion syndrome 4b	http://purl.obolibrary.org/obo/MONDO_0017575	mitochondrial neurogastrointestinal encephalomyopathy		
http://purl.obolibrary.org/obo/MONDO_0100512	mitochondrial DNA depletion syndrome, hepatocerebral form	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0980967	mitochondrial dna depletion syndrome 14A (encephalomyopathic type)	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0030326	mitochondrial dna depletion syndrome 16B (neuroophthalmic type)	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0030696	mitochondrial DNA depletion syndrome 20 (mngie type)	http://purl.obolibrary.org/obo/MONDO_0017575	mitochondrial neurogastrointestinal encephalomyopathy		
http://purl.obolibrary.org/obo/MONDO_0033545	mitochondrial DNA depletion syndrome 19	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0976132	mitochondrial dna depletion syndrome 21	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0032799	mitochondrial DNA depletion syndrome 16 (hepatic type)	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0032815	mitochondrial DNA depletion syndrome 17	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0032932	mitochondrial DNA depletion syndrome 18	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0014062	mitochondrial DNA deletion syndrome with progressive myopathy	http://purl.obolibrary.org/obo/MONDO_0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions		
http://purl.obolibrary.org/obo/MONDO_0014820	mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0014959	mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018158	mitochondrial DNA depletion syndrome		
http://purl.obolibrary.org/obo/MONDO_0007663	glaucoma with elevated episcleral venous pressure	http://purl.obolibrary.org/obo/MONDO_0018174	hereditary glaucoma		
http://purl.obolibrary.org/obo/MONDO_0013470	generalized epilepsy with febrile seizures plus, type 7	http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus		
http://purl.obolibrary.org/obo/MONDO_0012346	generalized epilepsy with febrile seizures plus, type 4	http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus		
http://purl.obolibrary.org/obo/MONDO_0012846	generalized epilepsy with febrile seizures plus, type 6	http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus		
http://purl.obolibrary.org/obo/MONDO_0013448	generalized epilepsy with febrile seizures plus, type 8	http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus		
http://purl.obolibrary.org/obo/MONDO_0958324	generalized epilepsy with febrile seizures plus, type 12	http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus		
http://purl.obolibrary.org/obo/MONDO_0032777	generalized epilepsy with febrile seizures plus, type 10	http://purl.obolibrary.org/obo/MONDO_0018214	generalized epilepsy with febrile seizures plus		
http://purl.obolibrary.org/obo/MONDO_0009526	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		
http://purl.obolibrary.org/obo/MONDO_0011235	pelvic dysplasia-arthrogryposis of lower limbs syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017442	congenital absence of thigh and lower leg with foot present	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017444	congenital absence of both lower leg and foot	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017445	acheiria	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017446	apodia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017450	split foot	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		
http://purl.obolibrary.org/obo/MONDO_0018563	adactyly of foot	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0000156	trigonocephaly	http://purl.obolibrary.org/obo/MONDO_0018234	dysostosis		
http://purl.obolibrary.org/obo/MONDO_0859005	preaxial digit brachydactyly-webbed fingers	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		
http://purl.obolibrary.org/obo/MONDO_0859006	proximal femoral focal deficiency	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0000172	muscular dystrophy-dystroglycanopathy, type B	http://purl.obolibrary.org/obo/MONDO_0018276	muscular dystrophy-dystroglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0000173	muscular dystrophy-dystroglycanopathy, type C	http://purl.obolibrary.org/obo/MONDO_0018276	muscular dystrophy-dystroglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A	http://purl.obolibrary.org/obo/MONDO_0018276	muscular dystrophy-dystroglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0009307	granulomatous disease with defect in neutrophil chemotaxis	http://purl.obolibrary.org/obo/MONDO_0018305	chronic granulomatous disease		
http://purl.obolibrary.org/obo/MONDO_0009308	granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	http://purl.obolibrary.org/obo/MONDO_0018305	chronic granulomatous disease		
http://purl.obolibrary.org/obo/MONDO_0010600	granulomatous disease, chronic, X-linked	http://purl.obolibrary.org/obo/MONDO_0018305	chronic granulomatous disease		
http://purl.obolibrary.org/obo/MONDO_0030066	granulomatous disease, chronic, autosomal recessive, 5	http://purl.obolibrary.org/obo/MONDO_0018305	chronic granulomatous disease		
http://purl.obolibrary.org/obo/MONDO_0013507	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	http://purl.obolibrary.org/obo/MONDO_0018305	chronic granulomatous disease		
http://purl.obolibrary.org/obo/MONDO_0054763	neurodegeneration with brain iron accumulation 7	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		
http://purl.obolibrary.org/obo/MONDO_0054764	neurodegeneration with brain iron accumulation 8	http://purl.obolibrary.org/obo/MONDO_0018307	neurodegeneration with brain iron accumulation		
http://purl.obolibrary.org/obo/MONDO_0975906	unifocal langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0975907	pulmonary langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0975908	single-system multifocal langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0975909	multisystem langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis		
http://purl.obolibrary.org/obo/MONDO_0014021	familial episodic pain syndrome with predominantly upper body involvement	http://purl.obolibrary.org/obo/MONDO_0018319	familial episodic pain syndrome		
http://purl.obolibrary.org/obo/MONDO_0018929	medial condensing osteitis of the clavicle	http://purl.obolibrary.org/obo/MONDO_0018381	osteochondrosis		
http://purl.obolibrary.org/obo/MONDO_0024519	renal hypodysplasia/aplasia 1	http://purl.obolibrary.org/obo/MONDO_0018470	renal agenesis		
http://purl.obolibrary.org/obo/MONDO_0024520	renal hypodysplasia/aplasia 3	http://purl.obolibrary.org/obo/MONDO_0018470	renal agenesis		
http://purl.obolibrary.org/obo/MONDO_0030822	renal hypodysplasia/aplasia 4	http://purl.obolibrary.org/obo/MONDO_0018470	renal agenesis		
http://purl.obolibrary.org/obo/MONDO_0980936	neutropenia, severe congenital, 12, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0030726	neutropenia, severe congenital, 9, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0032899	neutropenia, severe congenital, 8, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018542	severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0030010	hypogonadotropic hypogonadism 25 with anosmia	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		
http://purl.obolibrary.org/obo/MONDO_0030684	hypogonadotropic hypogonadism 27 without anosmia	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		
http://purl.obolibrary.org/obo/MONDO_0030534	hypogonadotropic hypogonadism 26 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0018555	hypogonadotropic hypogonadism		
http://purl.obolibrary.org/obo/MONDO_0100522	hypotrichosis 4	http://purl.obolibrary.org/obo/MONDO_0018631	Marie Unna hereditary hypotrichosis		
http://purl.obolibrary.org/obo/MONDO_0007099	familial visceral amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018634	hereditary amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0018591	ITM2B amyloidosis	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0018647	secondary sclerosing cholangitis	http://purl.obolibrary.org/obo/MONDO_0018646	sclerosing cholangitis		
http://purl.obolibrary.org/obo/MONDO_0010991	laterality defects, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0011659	heterotaxy, visceral, 3, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0030070	heterotaxy, visceral, 9, autosomal, with male infertility	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0030474	heterotaxy, visceral, 10, autosomal, with male infertility	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0030475	heterotaxy, visceral, 11, autosomal, with male infertility	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0976134	heterotaxy, visceral, 13, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0976135	heterotaxy, visceral, 14, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0859222	heterotaxy, visceral, 12, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0013887	heterotaxy, visceral, 6, autosomal	http://purl.obolibrary.org/obo/MONDO_0018677	visceral heterotaxy		
http://purl.obolibrary.org/obo/MONDO_0030356	short-rib thoracic dysplasia 21 without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		
http://purl.obolibrary.org/obo/MONDO_0033485	short-rib thoracic dysplasia 19 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		
http://purl.obolibrary.org/obo/MONDO_0036483	short-rib thoracic dysplasia 18 with polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		
http://purl.obolibrary.org/obo/MONDO_0014907	short-rib thoracic dysplasia 15 with polydactyly	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome		
http://purl.obolibrary.org/obo/MONDO_0800363	Joubert syndrome 19	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0800372	Joubert syndrome 29	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0800382	Joubert syndrome 11	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0800383	Joubert syndrome 34	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0030353	Joubert syndrome 38	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0030454	Joubert syndrome 39	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0030462	Joubert syndrome 40	http://purl.obolibrary.org/obo/MONDO_1060191	ciliopathy-IFT74		
http://purl.obolibrary.org/obo/MONDO_0033308	Joubert syndrome 30	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0033309	Joubert syndrome 32	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0033310	Joubert syndrome 31	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0033311	Joubert syndrome 33	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0030933	Joubert syndrome 37	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0032570	Joubert syndrome 35	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0032902	Joubert syndrome 36	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome		
http://purl.obolibrary.org/obo/MONDO_0015148	lissencephaly type 3	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		
http://purl.obolibrary.org/obo/MONDO_0015146	classic lissencephaly	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		
http://purl.obolibrary.org/obo/MONDO_0030031	lissencephaly 10	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		
http://purl.obolibrary.org/obo/MONDO_0014596	lissencephaly 7 with cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0018838	lissencephaly spectrum disorders		
http://purl.obolibrary.org/obo/MONDO_0008849	atrophoderma vermiculata	http://purl.obolibrary.org/obo/MONDO_0018855	keratosis pilaris atrophicans		
http://purl.obolibrary.org/obo/MONDO_0009590	metachromatic leukodystrophy due to saposin B deficiency	http://purl.obolibrary.org/obo/MONDO_0100517	PSAP-related sphingolipidosis		
http://purl.obolibrary.org/obo/MONDO_0018004	acute megakaryoblastic leukemia without down syndrome	http://purl.obolibrary.org/obo/MONDO_0018872	acute megakaryoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0971091	acute megakaryoblastic leukemia in adult	http://purl.obolibrary.org/obo/MONDO_0018872	acute megakaryoblastic leukemia		
http://purl.obolibrary.org/obo/MONDO_0018434	acute myeloid leukemia with t(9;11)(p22;q23)	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		
http://purl.obolibrary.org/obo/MONDO_0975868	acute myeloid leukemia with CBFA2T3-GLIS2 fusion	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		
http://purl.obolibrary.org/obo/MONDO_0975870	acute myeloid leukemia with FUS-ERG fusion	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		
http://purl.obolibrary.org/obo/MONDO_0975871	acute myeloid leukemia with MNX1-ETV6 fusion	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		
http://purl.obolibrary.org/obo/MONDO_0975872	acute myeloid leukemia with NPM1-MLF1 fusion	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		
http://purl.obolibrary.org/obo/MONDO_0015166	acute myeloid leukemia with t(8;21)(q22;q22) translocation	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		
http://purl.obolibrary.org/obo/MONDO_0035112	acute myeloid leukemia with BCR-ABL1	http://purl.obolibrary.org/obo/MONDO_0018874	acute myeloid leukemia		
http://purl.obolibrary.org/obo/MONDO_0007360	branchiootic syndrome 2	http://purl.obolibrary.org/obo/MONDO_0018878	branchiootic syndrome		
http://purl.obolibrary.org/obo/MONDO_0018640	secondary vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	vasculitis		
http://purl.obolibrary.org/obo/MONDO_0012502	normophosphatemic familial tumoral calcinosis	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0100252	tumoral calcinosis, hyperphosphatemic, familial, 1	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0800346	left ventricular noncompaction 9	http://purl.obolibrary.org/obo/MONDO_0018901	left ventricular noncompaction		
http://purl.obolibrary.org/obo/MONDO_0800350	left ventricular noncompaction 4	http://purl.obolibrary.org/obo/MONDO_0018901	left ventricular noncompaction		
http://purl.obolibrary.org/obo/MONDO_0800351	left ventricular noncompaction 5	http://purl.obolibrary.org/obo/MONDO_0018901	left ventricular noncompaction		
http://purl.obolibrary.org/obo/MONDO_0012285	left ventricular noncompaction 2	http://purl.obolibrary.org/obo/MONDO_0018901	left ventricular noncompaction		
http://purl.obolibrary.org/obo/MONDO_0030899	oculocutaneous albinism type 8	http://purl.obolibrary.org/obo/MONDO_0018910	oculocutaneous albinism		
http://purl.obolibrary.org/obo/MONDO_0978299	maturity-onset diabetes of the young, type 12	http://purl.obolibrary.org/obo/MONDO_0018911	maturity-onset diabetes of the young		
http://purl.obolibrary.org/obo/MONDO_0009966	NPHP3-related Meckel-like syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0033044	Meckel syndrome 13	http://purl.obolibrary.org/obo/MONDO_0018921	Meckel syndrome		
http://purl.obolibrary.org/obo/MONDO_0030819	meckel syndrome 14	http://purl.obolibrary.org/obo/MONDO_0018921	Meckel syndrome		
http://purl.obolibrary.org/obo/MONDO_0013157	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		
http://purl.obolibrary.org/obo/MONDO_0014140	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		
http://purl.obolibrary.org/obo/MONDO_0700466	presynaptic congenital myasthenic syndrome	http://purl.obolibrary.org/obo/MONDO_0018940	congenital myasthenic syndrome		
http://purl.obolibrary.org/obo/MONDO_0035406	furuncular myiasis due to Dermatobia hominis	http://purl.obolibrary.org/obo/MONDO_0018941	furuncular myiasis		
http://purl.obolibrary.org/obo/MONDO_0035407	furuncular myiasis due to Cordylobia anthropophaga	http://purl.obolibrary.org/obo/MONDO_0018941	furuncular myiasis		
http://purl.obolibrary.org/obo/MONDO_0035408	furuncular myiasis due to Cordylobia rodhaini	http://purl.obolibrary.org/obo/MONDO_0018941	furuncular myiasis		
http://purl.obolibrary.org/obo/MONDO_0013472	fatal infantile hypertonic myofibrillar myopathy	http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy		
http://purl.obolibrary.org/obo/MONDO_0033620	myofibrillar myopathy 10	http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy		
http://purl.obolibrary.org/obo/MONDO_0030927	myofibrillar myopathy 11	http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy		
http://purl.obolibrary.org/obo/MONDO_0859168	myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0018943	myofibrillar myopathy		
http://purl.obolibrary.org/obo/MONDO_0054695	myopathy, centronuclear, 6, with fiber-type disproportion	http://purl.obolibrary.org/obo/MONDO_0018947	centronuclear myopathy		
http://purl.obolibrary.org/obo/MONDO_0012302	parietal foramina 3	http://purl.obolibrary.org/obo/MONDO_0018953	parietal foramina		
http://purl.obolibrary.org/obo/MONDO_0013426	aneurysm-osteoarthritis syndrome	http://purl.obolibrary.org/obo/MONDO_0018954	Loeys-Dietz syndrome		
http://purl.obolibrary.org/obo/MONDO_0030500	Loeys-Dietz syndrome 6	http://purl.obolibrary.org/obo/MONDO_0018954	Loeys-Dietz syndrome		
http://purl.obolibrary.org/obo/MONDO_0957281	nemaline myopathy 5B, autosomal recessive, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0018958	nemaline myopathy		
http://purl.obolibrary.org/obo/MONDO_0957284	nemaline myopathy 5C, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0018958	nemaline myopathy		
http://purl.obolibrary.org/obo/MONDO_0007965	melanoma, malignant familial intraocular	http://purl.obolibrary.org/obo/MONDO_0018961	familial melanoma		
http://purl.obolibrary.org/obo/MONDO_0009604	methemoglobin reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0018963	hereditary methemoglobinemia		
http://purl.obolibrary.org/obo/MONDO_0018023	hemoglobin M disease	http://purl.obolibrary.org/obo/MONDO_0018963	hereditary methemoglobinemia		
http://purl.obolibrary.org/obo/MONDO_0009606	methemoglobinemia due to deficiency of methemoglobin reductase	http://purl.obolibrary.org/obo/MONDO_0018963	hereditary methemoglobinemia		
http://purl.obolibrary.org/obo/MONDO_0020835	methemoglobinemia, alpha type	http://purl.obolibrary.org/obo/MONDO_0018963	hereditary methemoglobinemia		
http://purl.obolibrary.org/obo/MONDO_0958104	digenic Alport syndrome	http://purl.obolibrary.org/obo/MONDO_0018965	Alport syndrome		
http://purl.obolibrary.org/obo/MONDO_0017060	open iniencephaly	http://purl.obolibrary.org/obo/MONDO_0018968	iniencephaly		
http://purl.obolibrary.org/obo/MONDO_0017061	closed iniencephaly	http://purl.obolibrary.org/obo/MONDO_0018968	iniencephaly		
http://purl.obolibrary.org/obo/MONDO_0008078	neurofibromatosis, familial spinal	http://purl.obolibrary.org/obo/MONDO_0018975	neurofibromatosis type 1		
http://purl.obolibrary.org/obo/MONDO_0018208	neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	http://purl.obolibrary.org/obo/MONDO_0018975	neurofibromatosis type 1		
http://purl.obolibrary.org/obo/MONDO_0018567	autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	http://purl.obolibrary.org/obo/MONDO_0011468	hereditary motor and sensory neuropathy, Okinawa type		
http://purl.obolibrary.org/obo/MONDO_0044640	Charcot-Marie-Tooth disease type 2T	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		
http://purl.obolibrary.org/obo/MONDO_0032728	Charcot-Marie-Tooth disease, axonal, type 2EE	http://purl.obolibrary.org/obo/MONDO_0018993	Charcot-Marie-Tooth disease type 2		
http://purl.obolibrary.org/obo/MONDO_0011531	Noonan syndrome 2	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		
http://purl.obolibrary.org/obo/MONDO_0030679	Noonan syndrome 14	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		
http://purl.obolibrary.org/obo/MONDO_0033669	Noonan syndrome 13	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		
http://purl.obolibrary.org/obo/MONDO_0032786	Noonan syndrome 11	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		
http://purl.obolibrary.org/obo/MONDO_0032839	noonan syndrome 12	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan syndrome		
http://purl.obolibrary.org/obo/MONDO_0008372	retinal aplasia	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis		
http://purl.obolibrary.org/obo/MONDO_0032794	Leber congenital amaurosis 19	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis		
http://purl.obolibrary.org/obo/MONDO_0859175	nephronophthisis-like nephropathy 2	http://purl.obolibrary.org/obo/MONDO_0019005	nephronophthisis		
http://purl.obolibrary.org/obo/MONDO_0011559	benign recurrent intrahepatic cholestasis type 2	http://purl.obolibrary.org/obo/MONDO_0019008	benign recurrent intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0979281	giant omphalocele	http://purl.obolibrary.org/obo/MONDO_0019015	omphalocele		
http://purl.obolibrary.org/obo/MONDO_0979282	small omphalocele	http://purl.obolibrary.org/obo/MONDO_0019015	omphalocele		
http://purl.obolibrary.org/obo/MONDO_0011375	brittle bone disorder	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0017791	high bone mass osteogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0030714	osteogenesis imperfecta, IIA 22	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0032846	osteogenesis imperfecta, type 20	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0030861	osteogenesis imperfecta, type 21	http://purl.obolibrary.org/obo/MONDO_0019019	osteogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0012278	supranuclear palsy, progressive, 2	http://purl.obolibrary.org/obo/MONDO_0019037	progressive supranuclear palsy		
http://purl.obolibrary.org/obo/MONDO_0012576	supranuclear palsy, progressive, 3	http://purl.obolibrary.org/obo/MONDO_0019037	progressive supranuclear palsy		
http://purl.obolibrary.org/obo/MONDO_0018576	non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0019397	unknown leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0971077	episodic memory defect leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0958226	leukoencephalopathy, porphyria-related	http://purl.obolibrary.org/obo/MONDO_0700382	HMBS-related hepatic porphyria		
http://purl.obolibrary.org/obo/MONDO_0980752	leukoencephalopathy without lacunae, adult-onset	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0025701	leukodystrophy, hypomyelinating, 22	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0030514	leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0976138	leukodystrophy, demyelinating, adult-onset	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0033657	leukodystrophy, hypomyelinating, 20	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0033043	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0017847	autosomal recessive spastic ataxia		
http://purl.obolibrary.org/obo/MONDO_0033486	leukodystrophy, hypomyelinating, 14	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0044718	alkaline ceramidase 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0054782	leukodystrophy, hypomyelinating, 15	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0054791	leukodystrophy, hypomyelinating, 16	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0054817	leukodystrophy, hypomyelinating, 17	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0979226	leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0032730	leukodystrophy, hypomyelinating, 18	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0032871	leukodystrophy, hypomyelinating, 19, transient infantile	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0859246	leukodystrophy, childhood-onset, remitting	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0859518	leukodystrophy, hypomyelinating, 26, with chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0975833	leukodystrophy, hypomyelinating, 28	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0014115	hypomyelination with brain stem and spinal cord involvement and leg spasticity	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0014292	leukoencephalopathy with mild cerebellar ataxia and white matter edema	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0859242	leukodystrophy, hypomyelinating, 24	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0859378	leukodystrophy, hypomyelinating, 25	http://purl.obolibrary.org/obo/MONDO_0019046	leukodystrophy		
http://purl.obolibrary.org/obo/MONDO_0979355	homozygous hemoglobin O Arab disease	http://purl.obolibrary.org/obo/MONDO_0019050	inherited hemoglobinopathy		
http://purl.obolibrary.org/obo/MONDO_0013534	apolipoprotein c-III deficiency	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0017757	disorder of metabolite absorption and transport	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0019250	inborn disorder of biogenic amine metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0019254	inborn disorder of purine or pyrimidine metabolism	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0022333	5-nucleotidase syndrome	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0022481	APO A-i deficiency	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0022795	deficiency of coenzyme q cytochrome c reductase	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0022949	defective apolipoprotein b-100	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0031376	congenital disorder of deglycosylation	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0000210	thiopurine metabolic disease	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0000214	hypermanganesemia with dystonia	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0030982	sulfide quinone oxidoreductase deficiency	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0032766	hypoalphalipoproteinemia, primary, 2	http://purl.obolibrary.org/obo/MONDO_0700513	apolipoprotein A-I deficiency		
http://purl.obolibrary.org/obo/MONDO_0032773	uridine-cytidineuria	http://purl.obolibrary.org/obo/MONDO_0019052	inborn errors of metabolism		
http://purl.obolibrary.org/obo/MONDO_0013601	gluthathione peroxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0024626	defective phagocytic cell engulfment		
http://purl.obolibrary.org/obo/MONDO_0017913	pure or complex hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0957274	spastic paraplegia 89, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0957308	spastic paraplegia 90A, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0957309	spastic paraplegia 90B, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0975746	spastic paraplegia 92, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0975919	IFIH1-related hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0975920	RNASEH2B-related hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0979273	ADAR-related hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0031019	spastic paraplegia 87, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0033614	spastic paraplegia 83, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0032737	spastic paraplegia 80, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0032905	spastic paraplegia 81, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0975796	spastic paraplegia 93, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0859309	spastic paraplegia 88, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0859363	spastic paraplegia 79A, autosomal dominant, with ataxia	http://purl.obolibrary.org/obo/MONDO_0019064	hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0018589	AApoAIV amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0018590	ABeta2M amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0018613	AH amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019065	amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0030331	Ritscher-Schinzel syndrome 4	http://purl.obolibrary.org/obo/MONDO_0019078	Ritscher-Schinzel syndrome		
http://purl.obolibrary.org/obo/MONDO_0030864	Ritscher-Schinzel syndrome 3	http://purl.obolibrary.org/obo/MONDO_0019078	Ritscher-Schinzel syndrome		
http://purl.obolibrary.org/obo/MONDO_0014025	lower motor neuron syndrome with late-adult onset	http://purl.obolibrary.org/obo/MONDO_0019079	proximal spinal muscular atrophy		
http://purl.obolibrary.org/obo/MONDO_0012551	alopecia areata 2	http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated		
http://purl.obolibrary.org/obo/MONDO_0035663	neuromyelitis optica spectrum disorder with anti-AQP4 antibodies	http://purl.obolibrary.org/obo/MONDO_0019100	neuromyelitis optica		
http://purl.obolibrary.org/obo/MONDO_0035665	neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies	http://purl.obolibrary.org/obo/MONDO_0019100	neuromyelitis optica		
http://purl.obolibrary.org/obo/MONDO_0035736	acquired hemophilia B	http://purl.obolibrary.org/obo/MONDO_0019139	acquired hemophilia		
http://purl.obolibrary.org/obo/MONDO_0035740	acquired factor XI deficiency	http://purl.obolibrary.org/obo/MONDO_0020587	factor XI deficiency		
http://purl.obolibrary.org/obo/MONDO_0017231	erythropoietic uroporphyria associated with myeloid malignancy	http://purl.obolibrary.org/obo/MONDO_0019142	inherited porphyria		
http://purl.obolibrary.org/obo/MONDO_0012860	thrombophilia due to protein C deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019145	hereditary thrombophilia due to congenital protein C deficiency		
http://purl.obolibrary.org/obo/MONDO_0020568	cutaneous myiasis	http://purl.obolibrary.org/obo/MONDO_0019147	myiasis		
http://purl.obolibrary.org/obo/MONDO_0958270	central precocious puberty in male	http://purl.obolibrary.org/obo/MONDO_0019165	central precocious puberty		
http://purl.obolibrary.org/obo/MONDO_0958354	genetic central precocious puberty in female	http://purl.obolibrary.org/obo/MONDO_0019165	central precocious puberty		
http://purl.obolibrary.org/obo/MONDO_0958355	secondary central precocious puberty in female	http://purl.obolibrary.org/obo/MONDO_0019165	central precocious puberty		
http://purl.obolibrary.org/obo/MONDO_0015713	idiopathic central precocious puberty	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0015714	secondary central precocious puberty	http://purl.obolibrary.org/obo/MONDO_0019165	central precocious puberty		
http://purl.obolibrary.org/obo/MONDO_0018593	primary polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0019170	polyarteritis nodosa		
http://purl.obolibrary.org/obo/MONDO_0010996	hereditary hemorrhagic telangiectasia type 3	http://purl.obolibrary.org/obo/MONDO_0019180	hereditary hemorrhagic telangiectasia		
http://purl.obolibrary.org/obo/MONDO_0012532	hereditary hemorrhagic telangiectasia type 4	http://purl.obolibrary.org/obo/MONDO_0019180	hereditary hemorrhagic telangiectasia		
http://purl.obolibrary.org/obo/MONDO_0010289	intellectual disability, X-linked 72	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010317	intellectual disability, X-linked, with or without seizures, ARX-related	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010326	intellectual disability, X-linked 46	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010344	intellectual disability, X-linked 45	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010363	intellectual disability, X-linked 91	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010230	intellectual disability, X-linked 23	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010231	intellectual disability, X-linked 20	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010236	intellectual disability, X-linked 14	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010251	intellectual disability, X-linked 50	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010300	intellectual disability, X-linked 53	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010307	intellectual disability, X-linked 73	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010309	intellectual disability, X-linked 42	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010322	intellectual disability, X-linked 2	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010324	intellectual disability, X-linked 81	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010329	intellectual disability, X-linked 77	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010347	intellectual disability, X-linked 84	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010352	intellectual disability, X-linked 82	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010406	chromosome Xp11.22 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010413	intellectual disability, X-linked 95	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010450	intellectual disability, X-linked 89	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010453	intellectual disability, X-linked 92	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0010454	intellectual disability, X-linked 88	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0957203	intellectual developmental disorder, X-linked 111	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0957496	intellectual developmental disorder, X-linked 112	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030907	intellectual disability, X-linked 106	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0026723	intellectual developmental disorder, X-linked 108	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0975828	intellectual developmental disorder, X-linked 114	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0958200	intellectual developmental disorder, X-linked 113	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0859086	intellectual developmental disorder, X-linked 110	http://purl.obolibrary.org/obo/MONDO_0019181	non-syndromic X-linked intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0800328	retinitis pigmentosa 94, variable age at onset	http://purl.obolibrary.org/obo/MONDO_1040070	SPATA7-related retinopathy		
http://purl.obolibrary.org/obo/MONDO_0800348	retinitis pigmentosa 53	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0800352	retinitis pigmentosa 65	http://purl.obolibrary.org/obo/MONDO_0700375	CDHR1-related retinopathy		
http://purl.obolibrary.org/obo/MONDO_0800359	retinitis pigmentosa 64	http://purl.obolibrary.org/obo/MONDO_0022410	retinal ciliopathy		
http://purl.obolibrary.org/obo/MONDO_0957314	retinitis pigmentosa 97	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0981164	retinitis pigmentosa 101	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0033563	retinitis pigmentosa 90	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0036482	retinitis pigmentosa 81	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0044314	retinitis pigmentosa 78	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0044320	retinitis pigmentosa 79	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0978291	retinitis pigmentosa 99	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0979574	retinitis pigmentosa 100	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0032577	retinitis pigmentosa 83	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0032604	retinitis pigmentosa 84	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0032689	retinitis pigmentosa 85	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0032834	retinitis pigmentosa 86	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0032873	retinitis pigmentosa 87 with choroidal involvement	http://purl.obolibrary.org/obo/MONDO_0100452	RPE65-related dominant retinopathy		
http://purl.obolibrary.org/obo/MONDO_0032940	retinitis pigmentosa 88	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0975840	retinitis pigmentosa 98	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0014522	retinal dystrophy and obesity	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0030619	retinitis pigmentosa 92	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0859308	retinitis pigmentosa 95	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0859367	retinitis pigmentosa 96	http://purl.obolibrary.org/obo/MONDO_0019200	retinitis pigmentosa		
http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis	http://purl.obolibrary.org/obo/MONDO_0016789	pyruvate metabolism disorder		
http://purl.obolibrary.org/obo/MONDO_0018605	disorders of pentose/polyol metabolism	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		
http://purl.obolibrary.org/obo/MONDO_0017690	disorder of galactose metabolism	http://purl.obolibrary.org/obo/MONDO_0019214	inborn carbohydrate metabolic disorder		
http://purl.obolibrary.org/obo/MONDO_0019223	disorder of fatty acid and ketone body metabolism	http://purl.obolibrary.org/obo/MONDO_0019243	inborn disorder of energy metabolism		
http://purl.obolibrary.org/obo/MONDO_0031422	familial mucolipidosis	http://purl.obolibrary.org/obo/MONDO_0019248	mucolipidosis		
http://purl.obolibrary.org/obo/MONDO_0030524	mucopolysaccharidosis, type 10	http://purl.obolibrary.org/obo/MONDO_0019249	mucopolysaccharidosis		
http://purl.obolibrary.org/obo/MONDO_0043094	ichthyosis, follicular	http://purl.obolibrary.org/obo/MONDO_0019269	ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0018777	autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019280	hypertrichosis		
http://purl.obolibrary.org/obo/MONDO_0011149	premature aging syndrome, Okamoto type	http://purl.obolibrary.org/obo/MONDO_0019303	premature aging syndrome		
http://purl.obolibrary.org/obo/MONDO_0023563	Kotzot-Richter syndrome	http://purl.obolibrary.org/obo/MONDO_0019312	Hermansky-Pudlak syndrome		
http://purl.obolibrary.org/obo/MONDO_0030903	Hermansky-Pudlak syndrome 11	http://purl.obolibrary.org/obo/MONDO_0019312	Hermansky-Pudlak syndrome		
http://purl.obolibrary.org/obo/MONDO_0011914	hypotrichosis-lymphedema-telangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0007670	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)		
http://purl.obolibrary.org/obo/MONDO_0019073	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	http://purl.obolibrary.org/obo/MONDO_0007670	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)		
http://purl.obolibrary.org/obo/MONDO_0012765	lymphatic malformation 2	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0023662	lymphatic malformation 10	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0030270	lymphatic malformation 9	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0030316	lymphatic malformation 11	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0031043	lymphatic malformation 12	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0032907	lymphatic malformation 8	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0014797	lymphatic malformation 6	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0015009	lymphatic malformation 7	http://purl.obolibrary.org/obo/MONDO_0700080	EPHB4-associated vascular malformation spectrum		
http://purl.obolibrary.org/obo/MONDO_0859379	lymphatic malformation 13	http://purl.obolibrary.org/obo/MONDO_0019313	lymphatic malformation		
http://purl.obolibrary.org/obo/MONDO_0019576	telangiectasia macularis eruptiva perstans	http://purl.obolibrary.org/obo/MONDO_0019316	maculopapular cutaneous mastocytosis		
http://purl.obolibrary.org/obo/MONDO_0015554	typical urticaria pigmentosa	http://purl.obolibrary.org/obo/MONDO_0019316	maculopapular cutaneous mastocytosis		
http://purl.obolibrary.org/obo/MONDO_0015555	plaque-form urticaria pigmentosa	http://purl.obolibrary.org/obo/MONDO_0019316	maculopapular cutaneous mastocytosis		
http://purl.obolibrary.org/obo/MONDO_0015556	nodular urticaria pigmentosa	http://purl.obolibrary.org/obo/MONDO_0019316	maculopapular cutaneous mastocytosis		
http://purl.obolibrary.org/obo/MONDO_0043257	pemphigus and fogo selvagem	http://purl.obolibrary.org/obo/MONDO_0019324	pemphigus foliaceus		
http://purl.obolibrary.org/obo/MONDO_0010900	intrauterine growth retardation with increased mitomycin c sensitivity	http://purl.obolibrary.org/obo/MONDO_0019342	Seckel syndrome		
http://purl.obolibrary.org/obo/MONDO_0958328	Seckel syndrome 11	http://purl.obolibrary.org/obo/MONDO_0019342	Seckel syndrome		
http://purl.obolibrary.org/obo/MONDO_0010819	Stargardt disease 3	http://purl.obolibrary.org/obo/MONDO_0700227	ELOVL4-related maculopathy		
http://purl.obolibrary.org/obo/MONDO_0980722	Stargardt disease 5	http://purl.obolibrary.org/obo/MONDO_0019353	Stargardt disease		
http://purl.obolibrary.org/obo/MONDO_0031047	Stickler syndrome, type 6	http://purl.obolibrary.org/obo/MONDO_0019354	Stickler syndrome		
http://purl.obolibrary.org/obo/MONDO_0007160	Stickler syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0100602	COL2A1-related spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0035670	acute disseminated encephalomyelitis without anti-MOG antibodies	http://purl.obolibrary.org/obo/MONDO_0019383	acute disseminated encephalomyelitis		
http://purl.obolibrary.org/obo/MONDO_0044325	Fanconi anemia, complementation group W	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		
http://purl.obolibrary.org/obo/MONDO_0979241	fanconi anemia, complementation group 10	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia		
http://purl.obolibrary.org/obo/MONDO_0008545	thalassemia, beta+, silent allele	http://purl.obolibrary.org/obo/MONDO_0019402	beta thalassemia		
http://purl.obolibrary.org/obo/MONDO_0010444	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	http://purl.obolibrary.org/obo/MONDO_0100089	GATA1-Related X-Linked Cytopenia		
http://purl.obolibrary.org/obo/MONDO_0030711	Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019403	congenital dyserythropoietic anemia		
http://purl.obolibrary.org/obo/MONDO_0975829	anemia, congenital dyserythropoietic, type IVb	http://purl.obolibrary.org/obo/MONDO_0019403	congenital dyserythropoietic anemia		
http://purl.obolibrary.org/obo/MONDO_0980723	fetomaternal alloimmune thrombocytopenia 1	http://purl.obolibrary.org/obo/MONDO_0019415	fetal and neonatal alloimmune thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0980724	fetomaternal alloimmune thrombocytopenia 2	http://purl.obolibrary.org/obo/MONDO_0019415	fetal and neonatal alloimmune thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0980725	fetomaternal alloimmune thrombocytopenia 3	http://purl.obolibrary.org/obo/MONDO_0019415	fetal and neonatal alloimmune thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0016615	oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0019433	oligoarticular juvenile idiopathic arthritis		
http://purl.obolibrary.org/obo/MONDO_0016616	oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0019433	oligoarticular juvenile idiopathic arthritis		
http://purl.obolibrary.org/obo/MONDO_0016302	isolated congenitally uncorrected transposition of the great arteries	http://purl.obolibrary.org/obo/MONDO_0019443	dextro-looped transposition of the great arteries		
http://purl.obolibrary.org/obo/MONDO_0016303	congenitally uncorrected transposition of the great arteries with cardiac malformation	http://purl.obolibrary.org/obo/MONDO_0019443	dextro-looped transposition of the great arteries		
http://purl.obolibrary.org/obo/MONDO_0007701	progressive familial heart block type II	http://purl.obolibrary.org/obo/MONDO_0019490	progressive familial heart block		
http://purl.obolibrary.org/obo/MONDO_0029141	Usher syndrome, type 4	http://purl.obolibrary.org/obo/MONDO_0019501	Usher syndrome		
http://purl.obolibrary.org/obo/MONDO_0957288	intellectual developmental disorder, autosomal recessive 79	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0012617	intellectual disability, autosomal recessive 9	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0012618	intellectual disability, autosomal recessive 10	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0012619	intellectual disability, autosomal recessive 11	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0012623	intellectual disability, autosomal recessive 4	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0020846	intellectual disability, autosomal recessive 64	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0020850	intellectual disability, autosomal recessive 65	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0968944	intellectual developmental disorder, autosomal recessive 82	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030968	intellectual developmental disorder, autosomal recessive 76	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0031031	intellectual developmental disorder, autosomal recessive 77	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030533	intellectual developmental disorder, autosomal recessive 73	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0976231	intellectual developmental disorder, autosomal recessive 83	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032605	intellectual disability, autosomal recessive 66	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032662	intellectual developmental disorder, autosomal recessive 67	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032665	intellectual developmental disorder, autosomal recessive 68	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032715	intellectual developmental disorder, autosomal recessive 69	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032729	intellectual developmental disorder, autosomal recessive 70	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032789	intellectual developmental disorder, autosomal recessive 71	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032860	intellectual developmental disorder, autosomal recessive 72	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013629	intellectual disability, autosomal recessive 16	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013694	intellectual disability, autosomal recessive 31	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013697	intellectual disability, autosomal recessive 29	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013703	intellectual disability, autosomal recessive 33	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013704	intellectual disability, autosomal recessive 30	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013705	intellectual disability, autosomal recessive 19	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013706	intellectual disability, autosomal recessive 23	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013707	intellectual disability, autosomal recessive 24	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013708	intellectual disability, autosomal recessive 25	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0013709	intellectual disability, autosomal recessive 28	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014648	Al-Raqad syndrome	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030785	intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0958204	intellectual developmental disorder, autosomal recessive 81	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0859373	intellectual developmental disorder, autosomal recessive 78	http://purl.obolibrary.org/obo/MONDO_0019502	autosomal recessive non-syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0007138	anterior segment dysgenesis 1	http://purl.obolibrary.org/obo/MONDO_0019503	anterior segment dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0011119	iridogoniodysgenesis	http://purl.obolibrary.org/obo/MONDO_0019503	anterior segment dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0033810	isolated iridoschisis	http://purl.obolibrary.org/obo/MONDO_0019503	anterior segment dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0015016	anterior segment dysgenesis 6	http://purl.obolibrary.org/obo/MONDO_0800472	CYP1B1-related glaucoma with or without anterior segment dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0968955	hypocalcified amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0019507	amelogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0031084	amelogenesis imperfecta, IIa 1K	http://purl.obolibrary.org/obo/MONDO_0019507	amelogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0015047	amelogenesis imperfecta type 1	http://purl.obolibrary.org/obo/MONDO_0019507	amelogenesis imperfecta		
http://purl.obolibrary.org/obo/MONDO_0011592	exudative vitreoretinopathy 3	http://purl.obolibrary.org/obo/MONDO_0019516	exudative vitreoretinopathy		
http://purl.obolibrary.org/obo/MONDO_0033123	exudative vitreoretinopathy 7	http://purl.obolibrary.org/obo/MONDO_0100571	CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy		
http://purl.obolibrary.org/obo/MONDO_0979571	exudative vitreoretinopathy 8	http://purl.obolibrary.org/obo/MONDO_0019516	exudative vitreoretinopathy		
http://purl.obolibrary.org/obo/MONDO_0010841	Waardenburg syndrome type 2B	http://purl.obolibrary.org/obo/MONDO_0019517	Waardenburg syndrome type 2		
http://purl.obolibrary.org/obo/MONDO_0010756	Von Willebrand disease, X-linked form	http://purl.obolibrary.org/obo/MONDO_0019565	hereditary von Willebrand disease		
http://purl.obolibrary.org/obo/MONDO_0010228	hearing loss, X-linked 3	http://purl.obolibrary.org/obo/MONDO_0019586	X-linked nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0010577	hearing loss, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0019586	X-linked nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0011920	autosomal dominant nonsyndromic hearing loss 48	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0958232	hearing loss, autosomal dominant 90	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0030058	hearing loss, autosomal dominant 77	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0030549	hearing loss, autosomal dominant 81	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0030719	hearing loss, autosomal dominant 82	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0030723	hearing loss, autosomal dominant 83	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0030724	hearing loss, autosomal dominant 84	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0981166	autosomal dominant nonsyndromic hearing loss 91	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0033665	hearing loss, autosomal dominant 78	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0033668	hearing loss, autosomal dominant 79	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0033258	hearing loss, autosomal dominant 71	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0033259	hearing loss, autosomal dominant 72	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0033260	hearing loss, autosomal dominant 73	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0033261	hearing loss, autosomal dominant 34, with or without inflammation	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0030998	hearing loss, autosomal dominant 80	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0032802	hearing loss, autosomal dominant 37	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0032911	hearing loss, autosomal dominant 75	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0032917	hearing loss, autosomal dominant 76	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0029137	hearing loss, autosomal dominant 74	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0859366	hearing loss, autosomal dominant 85	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0859524	hearing loss, autosomal dominant 86	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0859525	hearing loss, autosomal dominant 87	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0859527	hearing loss, autosomal dominant 88	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0859528	hearing loss, autosomal dominant 89	http://purl.obolibrary.org/obo/MONDO_0019587	autosomal dominant nonsyndromic hearing loss		
http://purl.obolibrary.org/obo/MONDO_0971152	hearing loss, autosomal recessive 125	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0958228	hearing loss, autosomal recessive 122	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0958277	hearing loss, autosomal recessive 123	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0030449	hearing loss, autosomal recessive 118, with cochlear aplasia	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0030480	hearing loss, autosomal recessive 119	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0033670	hearing loss, autosomal recessive 116	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0033198	hearing loss, autosomal recessive 106	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0033199	hearing loss, autosomal recessive 107	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0033200	hearing loss, autosomal recessive 108	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0033201	hearing loss, autosomal recessive 57	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0033202	hearing loss, autosomal recessive 109	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0968981	autosomal recessive nonsyndromic hearing loss 124	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0030905	hearing loss, autosomal recessive 117	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0032639	hearing loss, autosomal recessive 112	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0032732	hearing loss, autosomal recessive 113	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0032740	hearing loss, autosomal recessive 100	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0032749	hearing loss, autosomal recessive 94	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0032761	hearing loss, autosomal recessive 114	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0032762	hearing loss, autosomal recessive 115	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0032776	hearing loss, autosomal recessive 99	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0029142	hearing loss, autosomal recessive 111	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0859374	hearing loss, autosomal recessive 120	http://purl.obolibrary.org/obo/MONDO_0019588	hearing loss, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0010712	panhypopituitarism, X-linked	http://purl.obolibrary.org/obo/MONDO_0019591	panhypopituitarism		
http://purl.obolibrary.org/obo/MONDO_0008690	xeroderma pigmentosum, autosomal dominant, mild	http://purl.obolibrary.org/obo/MONDO_0019600	xeroderma pigmentosum		
http://purl.obolibrary.org/obo/MONDO_0800298	peroxisome biogenesis disorder, complementation group 2	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		
http://purl.obolibrary.org/obo/MONDO_0013945	peroxisome biogenesis disorder 9B	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger spectrum disorders		
http://purl.obolibrary.org/obo/MONDO_0023660	angioedema, hereditary, 6	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		
http://purl.obolibrary.org/obo/MONDO_0025712	angioedema, hereditary, 4	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		
http://purl.obolibrary.org/obo/MONDO_0025713	angioedema, hereditary, 7	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		
http://purl.obolibrary.org/obo/MONDO_0030293	angioedema, hereditary, 5	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		
http://purl.obolibrary.org/obo/MONDO_0030298	angioedema, hereditary, 8	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		
http://purl.obolibrary.org/obo/MONDO_0035220	PLG-related hereditary angioedema with normal C1inh	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		
http://purl.obolibrary.org/obo/MONDO_0035734	hereditary angioedema with normal C1inh not related to F12 or PLG variant	http://purl.obolibrary.org/obo/MONDO_0019623	hereditary angioedema		
http://purl.obolibrary.org/obo/MONDO_0033948	acquired angioedema with C1Inh deficiency	http://purl.obolibrary.org/obo/MONDO_0019624	acquired angioedema		
http://purl.obolibrary.org/obo/MONDO_0008417	sclerocornea, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019629	sclerocornea		
http://purl.obolibrary.org/obo/MONDO_0012653	persistent hyperplastic primary vitreous, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019631	persistent hyperplastic primary vitreous		
http://purl.obolibrary.org/obo/MONDO_0019669	hypochondrogenesis	http://purl.obolibrary.org/obo/MONDO_0022800	type 2 collagenopathy		
http://purl.obolibrary.org/obo/MONDO_0008227	peripheral dysostosis	http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0012274	acromesomelic dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0019696	acromesomelic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0021805	acromesomelic dysplasia, Campailla Martinelli type	http://purl.obolibrary.org/obo/MONDO_0019696	acromesomelic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0030553	acromesomelic dysplasia 4	http://purl.obolibrary.org/obo/MONDO_0019696	acromesomelic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0032646	congenital anomalies of kidney and urinary tract 3	http://purl.obolibrary.org/obo/MONDO_0019719	congenital anomaly of kidney and urinary tract		
http://purl.obolibrary.org/obo/MONDO_0017070	total spina bifida cystica	http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele		
http://purl.obolibrary.org/obo/MONDO_0017071	thoracolumbosacral spina bifida cystica	http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele		
http://purl.obolibrary.org/obo/MONDO_0017072	lumbosacral spina bifida cystica	http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele		
http://purl.obolibrary.org/obo/MONDO_0017073	cervical spina bifida cystica	http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele		
http://purl.obolibrary.org/obo/MONDO_0017074	cervicothoracic spina bifida cystica	http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele		
http://purl.obolibrary.org/obo/MONDO_0017075	upper thoracic spina bifida cystica	http://purl.obolibrary.org/obo/MONDO_0019773	myelomeningocele		
http://purl.obolibrary.org/obo/MONDO_0016685	low-grade astrocytoma	http://purl.obolibrary.org/obo/MONDO_0021638	low grade astrocytic tumor		
http://purl.obolibrary.org/obo/MONDO_0033862	primary autoimmune enteropathy	http://purl.obolibrary.org/obo/MONDO_0019787	autoimmune enteropathy		
http://purl.obolibrary.org/obo/MONDO_0015174	autoimmune enteropathy type 3	http://purl.obolibrary.org/obo/MONDO_0019787	autoimmune enteropathy		
http://purl.obolibrary.org/obo/MONDO_0007115	angioma serpiginosum, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019803	angioma serpiginosum		
http://purl.obolibrary.org/obo/MONDO_0010391	angioma serpiginosum, X-linked	http://purl.obolibrary.org/obo/MONDO_0019803	angioma serpiginosum		
http://purl.obolibrary.org/obo/MONDO_0007136	hereditary anorectal anomalies	http://purl.obolibrary.org/obo/MONDO_0019938	anorectal malformation		
http://purl.obolibrary.org/obo/MONDO_0978312	isolated anal canal duplication	http://purl.obolibrary.org/obo/MONDO_0019938	anorectal malformation		
http://purl.obolibrary.org/obo/MONDO_0007364	arthrogryposis, distal, type 2E	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0016675	distal arthrogryposis type 10	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0800200	arthrogryposis, distal, type 2B4	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0031045	arthrogryposis, distal, IIa 11	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0014941	arthrogryposis, distal, with impaired proprioception and touch	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0030847	arthrogryposis, distal, type 1C	http://purl.obolibrary.org/obo/MONDO_0019942	distal arthrogryposis		
http://purl.obolibrary.org/obo/MONDO_0010414	myopathy, reducing body, X-linked, early-onset, severe	http://purl.obolibrary.org/obo/MONDO_0800462	FHL1-related myopathy		
http://purl.obolibrary.org/obo/MONDO_0010415	myopathy, reducing body, X-linked, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0800462	FHL1-related myopathy		
http://purl.obolibrary.org/obo/MONDO_0009682	muscular dystrophy, congenital, with rapid progression	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0011246	megaconial type congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis		
http://purl.obolibrary.org/obo/MONDO_0018276	muscular dystrophy-dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0958077	collagen 6-related congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0014896	congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	http://purl.obolibrary.org/obo/MONDO_0019950	congenital muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0009708	myopathy, myosin storage, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0012929	Compton-North congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0957215	congenital myopathy 20	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0957224	congenital myopathy 21 with early respiratory failure	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0957247	congenital myopathy 22A, classic	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0957265	congenital myopathy 22B, severe fetal	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0979897	congenital myopathy 27	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0980756	congenital myopathy 28 with rigid spine	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0981030	congenital myopathy 29 with contractures	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0033548	myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0979229	congenital myopathy 26	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0032797	myopathy, congenital, with tremor	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0032821	myopathy, congenital, progressive, with scoliosis	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0032852	myopathy, congenital, with structured cores and z-line abnormalities	http://purl.obolibrary.org/obo/MONDO_0700349	ACTN2-related cardiac and skeletal myopathy		
http://purl.obolibrary.org/obo/MONDO_0032936	myopathy, congenital, with respiratory insufficiency and bone fractures	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0032937	myopathy, congenital proximal, with minicore lesions	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0859264	congenital myopathy 11	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0859335	congenital myopathy 15	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0859514	congenital myopathy 18	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0859515	congenital myopathy 10b, mild variant	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0859517	congenital myopathy 2b, severe infantile, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0859523	congenital myopathy 2c, severe infantile, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0975808	congenital myopathy 25	http://purl.obolibrary.org/obo/MONDO_0019952	congenital myopathy		
http://purl.obolibrary.org/obo/MONDO_0850104	paraneoplastic isolated brainstem encephalitis	http://purl.obolibrary.org/obo/MONDO_0019956	encephalitis		
http://purl.obolibrary.org/obo/MONDO_0032800	robinow syndrome, autosomal recessive 2	http://purl.obolibrary.org/obo/MONDO_0019978	Robinow syndrome		
http://purl.obolibrary.org/obo/MONDO_0017967	testicular agenesis	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0043120	male pseudohermaphroditism due to defective lh molecule	http://purl.obolibrary.org/obo/MONDO_0020040	46,XY disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0007528	Ehlers-Danlos syndrome, autosomal dominant, type unspecified	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		
http://purl.obolibrary.org/obo/MONDO_0012114	Ehlers-Danlos syndrome, Beasley-Cohen type	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		
http://purl.obolibrary.org/obo/MONDO_0011670	Ehlers-Danlos syndrome due to tenascin-X deficiency	http://purl.obolibrary.org/obo/MONDO_0020066	Ehlers-Danlos syndrome		
http://purl.obolibrary.org/obo/MONDO_0020068	postinfectious encephalitis	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		
http://purl.obolibrary.org/obo/MONDO_0030034	epilepsy, progressive myoclonic, 11	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		
http://purl.obolibrary.org/obo/MONDO_0030936	epilepsy, progressive myoclonic, 12	http://purl.obolibrary.org/obo/MONDO_0020074	progressive myoclonus epilepsy		
http://purl.obolibrary.org/obo/MONDO_0009695	myeloproliferative disease, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		
http://purl.obolibrary.org/obo/MONDO_0020703	erythroid neoplasm	http://purl.obolibrary.org/obo/MONDO_0020076	myeloproliferative neoplasm		
http://purl.obolibrary.org/obo/MONDO_0017230	autosomal semi-dominant severe lipodystrophic laminopathy	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0019192	AKT2-related familial partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0011448	PPARG-related familial partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0013478	PLIN1-related familial partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0014098	CIDEC-related familial partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0020088	familial partial lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0008028	muscular dystrophy, Barnes type	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010675	muscular dystrophy, cardiac type	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010676	muscular dystrophy, Hemizygous lethal type	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010677	muscular dystrophy, Mabry type	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010678	muscular dystrophy, progressive Pectorodorsal	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0016106	progressive muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0700285	DMD-related muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020121	muscular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0007592	familial recurrent peripheral facial palsy	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0007975	meralgia paraesthetica, familial	http://purl.obolibrary.org/obo/MONDO_0023757	meralgia paresthetica		
http://purl.obolibrary.org/obo/MONDO_0018319	familial episodic pain syndrome	http://purl.obolibrary.org/obo/MONDO_0021667	neuralgia		
http://purl.obolibrary.org/obo/MONDO_0018894	distal hereditary motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		
http://purl.obolibrary.org/obo/MONDO_0800304	neuropathy, hereditary sensory and autonomic, type IId	http://purl.obolibrary.org/obo/MONDO_0020127	hereditary peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0024457	neurodegeneration with brain iron accumulation 2A	http://purl.obolibrary.org/obo/MONDO_0017998	PLA2G6-associated neurodegeneration		
http://purl.obolibrary.org/obo/MONDO_0018973	patterned dystrophy of the retinal pigment epithelium	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0958326	macular dystrophy with or without cone dysfunction	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0031166	macular dystrophy, retinal	http://purl.obolibrary.org/obo/MONDO_0020242	hereditary macular dystrophy		
http://purl.obolibrary.org/obo/MONDO_0800166	Knobloch syndrome	http://purl.obolibrary.org/obo/MONDO_0020248	vitreoretinal degeneration		
http://purl.obolibrary.org/obo/MONDO_0859565	atrioventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0020290	familial atrioventricular septal defect		
http://purl.obolibrary.org/obo/MONDO_0054776	epilepsy, familial focal, with variable foci 4	http://purl.obolibrary.org/obo/MONDO_0020310	familial focal epilepsy with variable foci		
http://purl.obolibrary.org/obo/MONDO_0015558	isolated bone marrow mastocytosis	http://purl.obolibrary.org/obo/MONDO_0020331	indolent systemic mastocytosis		
http://purl.obolibrary.org/obo/MONDO_0015559	lymphoadenopathic mastocytosis with eosinophilia	http://purl.obolibrary.org/obo/MONDO_0020333	aggressive systemic mastocytosis		
http://purl.obolibrary.org/obo/MONDO_0011966	periventricular heterotopia with microcephaly, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia		
http://purl.obolibrary.org/obo/MONDO_0011967	heterotopia, periventricular, associated with chromosome 5P anomalies	http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia		
http://purl.obolibrary.org/obo/MONDO_0013031	chromosome 5Q14.3 deletion syndrome, distal	http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia		
http://purl.obolibrary.org/obo/MONDO_0010233	heterotopia, periventricular, X-linked dominant	http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia		
http://purl.obolibrary.org/obo/MONDO_0030061	periventricular nodular heterotopia 9	http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia		
http://purl.obolibrary.org/obo/MONDO_0032588	periventricular nodular heterotopia 8	http://purl.obolibrary.org/obo/MONDO_0020341	periventricular nodular heterotopia		
http://purl.obolibrary.org/obo/MONDO_0054832	corneal dystrophy, posterior polymorphous, 4	http://purl.obolibrary.org/obo/MONDO_0020364	posterior polymorphous corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0012101	glaucoma 1, open angle, J	http://purl.obolibrary.org/obo/MONDO_0020367	juvenile open angle glaucoma		
http://purl.obolibrary.org/obo/MONDO_0012102	glaucoma 1, open angle, K	http://purl.obolibrary.org/obo/MONDO_0020367	juvenile open angle glaucoma		
http://purl.obolibrary.org/obo/MONDO_0800210	glaucoma 1, open angle, l	http://purl.obolibrary.org/obo/MONDO_0020367	juvenile open angle glaucoma		
http://purl.obolibrary.org/obo/MONDO_0012515	glaucoma 1, open angle, M	http://purl.obolibrary.org/obo/MONDO_0020367	juvenile open angle glaucoma		
http://purl.obolibrary.org/obo/MONDO_0012645	glaucoma 1, open angle, N	http://purl.obolibrary.org/obo/MONDO_0020367	juvenile open angle glaucoma		
http://purl.obolibrary.org/obo/MONDO_0013029	spinocerebellar ataxia 9	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0030805	spinocerebellar ataxia 49	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0981162	spinocerebellar ataxia 52	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0033479	spinocerebellar ataxia 44	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0032526	spinocerebellar ataxia 48	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0975800	spinocerebellar ataxia 51	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0859334	spinocerebellar ataxia 50	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0859340	spinocerebellar ataxia 27B, late-onset	http://purl.obolibrary.org/obo/MONDO_0020380	autosomal dominant cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0980711	brain small vessel disease 6 with leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0020496	familial porencephaly		
http://purl.obolibrary.org/obo/MONDO_0979873	brain small vessel disease 4	http://purl.obolibrary.org/obo/MONDO_0020496	familial porencephaly		
http://purl.obolibrary.org/obo/MONDO_0979880	brain small vessel disease 5 with osteoporosis	http://purl.obolibrary.org/obo/MONDO_0020496	familial porencephaly		
http://purl.obolibrary.org/obo/MONDO_0011073	diabetes mellitus, transient neonatal, 1	http://purl.obolibrary.org/obo/MONDO_0020525	transient neonatal diabetes mellitus		
http://purl.obolibrary.org/obo/MONDO_0008344	pulmonary edema of mountaineers, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010918	epilepsy, idiopathic generalized, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012050	major depressive disorder 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012100	major depressive disorder 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012153	Alzheimer disease 9	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0009335	hemolytic uremic syndrome, atypical, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0009409	hypervitaminosis a, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0009500	kuru, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0009789	nonarteritic anterior ischemic optic neuropathy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010331	coronary heart disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010348	dyslexia, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010433	systemic lupus erythematosus, susceptibility to, 15	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010640	Leber optic atrophy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010843	dyslexia, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010853	Helicobacter pylori infection, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011037	renal dysplasia, cystic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011179	leishmaniasis, tegumentary, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011207	xanthomatosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0018643	susceptibility to localized juvenile periodontitis	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0100202	lumbar disk herniation, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0100206	lumbar disk degeneration, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800215	multicentric Castleman disease, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800222	pelvic organ prolapse, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800224	amyotrophic lateral sclerosis, susceptibility to, 13	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800250	Graves disease, susceptibility to, X-linked 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800261	autoimmune thyroid disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800268	atrioventricular septal defect, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800271	epilepsy, juvenile myoclonic, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800274	autoimmune disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800279	epilepsy, idiopathic generalized, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800340	seasonal affective disorder, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800409	ventricular fibrillation during myocardial infarction, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800410	UV-induced skin damage, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800413	antisocial behavior, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800414	aplastic anemia, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800421	cardiomyopathy, familial hypertrophic, 4, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800422	cirrhosis, noncryptogenic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800425	coronary artery disease, severe, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800426	dengue fever, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800427	dengue hemorrhagic fever, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800428	dengue shock syndrome, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800429	dyslexia, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800430	dyslexia, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800431	efavirenz central nervous system toxicity, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800432	obesity, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0100295	Alzheimer disease, susceptibility to, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0100519	epilepsy, idiopathic generalized, susceptibility to, 17	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0975748	Parkinson disease 26, autosomal dominant, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011373	urinary tract infections, recurrent, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011384	hypertension, essential, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011409	hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011418	dyslexia, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011427	Ascaris lumbricoides infection, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011440	hypertension, essential, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011491	epilepsy, idiopathic generalized, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011520	systemic lupus erythematosus, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011560	systemic lupus erythematosus, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011684	vitiligo-associated multiple autoimmune disease susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011685	polysubstance abuse, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011689	dyslexia, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011693	glaucoma, normal tension, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011727	anorexia nervosa, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011729	stroke, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011747	dyslexia, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011753	epilepsy, idiopathic generalized, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011793	celiac disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011807	systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011815	hypertension, essential, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011846	bulimia nervosa, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011860	leprosy, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011942	systemic lupus erythematosus with nephritis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011943	systemic lupus erythematosus with nephritis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011944	systemic lupus erythematosus with nephritis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012009	coronary heart disease, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012010	coronary heart disease, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012027	autoimmune disease, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012028	autoimmune disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012036	systemic lupus erythematosus, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012039	myocardial infarction, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012057	legionnaire disease, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012058	myocardial infarction, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012109	hypertension, essential, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012113	epilepsy, idiopathic generalized, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012134	myoclonic epilepsy, juvenile, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012147	coronary heart disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012149	attention deficit-hyperactivity disorder, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012150	attention deficit-hyperactivity disorder, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012151	attention deficit-hyperactivity disorder, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012152	attention deficit-hyperactivity disorder, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012168	dyslexia, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012263	autoimmune disease, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012292	hepatitis C virus, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012338	epilepsy, idiopathic generalized, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012339	celiac disease, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012340	celiac disease, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012341	celiac disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012358	leprosy, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012361	systemic lupus erythematosus, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012369	systemic lupus erythematosus, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012402	opioid dependence, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012403	systemic lupus erythematosus, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012404	systemic lupus erythematosus, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012458	hypertension, essential, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012459	hypertension, essential, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012482	West Nile virus, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012488	hepatitis B virus, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012499	Buruli ulcer, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012568	osteoarthritis susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012587	hypertension, essential, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012599	hypertension, essential, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012628	coronary heart disease, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012655	myoclonic epilepsy, juvenile, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012660	susceptibility to visceral leishmaniasis, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012661	susceptibility to visceral leishmaniasis, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012702	celiac disease, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012760	epilepsy, idiopathic generalized, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012776	celiac disease, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012777	celiac disease, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012778	celiac disease, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012779	celiac disease, susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012780	celiac disease, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012781	celiac disease, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012782	celiac disease, susceptibility to, 13	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012788	coronary heart disease, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012836	systemic lupus erythematosus, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012862	attention deficit-hyperactivity disorder, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012863	attention deficit-hyperactivity disorder, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012884	systemic lupus erythematosus, susceptibility to, 13	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012889	sarcoidosis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012894	osteoarthritis susceptibility 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013075	herpes simplex encephalitis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013076	attention deficit-hyperactivity disorder, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013124	pelvic organ prolapse, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013152	systemic lupus erythematosus, susceptibility to, 14	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013213	hearing loss, cisplatin-induced, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013237	susceptibility to mononeuropathy of the median nerve, mild	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013246	fatty liver disease, nonalcoholic, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013257	leprosy, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0020715	multiple system atrophy 1, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0958238	hyperemesis gravidarum, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0980764	scoliosis, isolated, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0024512	spondyloarthropathy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0035548	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0100489	Graves disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0976267	polycystic kidney disease 9, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0030434	epilepsy, idiopathic generalized, susceptibility to, 18	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0100532	blepharospasm, benign essential, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0800447	bleeding disorder, platelet-type, 13, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_1030001	epilepsy, juvenile absence, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0700077	vitiligo-associated multiple autoimmune disease susceptibility 6	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0054750	amyotrophic lateral sclerosis, susceptibility to, 24	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0020759	epilepsy, childhood absence, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0000065	microvascular complications of diabetes, susceptibility	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0000070	Mycobacterium tuberculosis, susceptibility	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0000108	bacteremia, susceptibility	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0000144	pregnancy loss, recurrent, susceptibility	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0000162	autoimmune thyroid disease, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0020752	myoclonic epilepsy, juvenile, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0976128	epilepsy, idiopathic generalized, susceptibility to, 19	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0979250	rhabdomyolysis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0032699	epilepsy, idiopathic generalized, susceptibility to, 15	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0032809	hepatitis, fulminant viral, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0032827	epilepsy, idiopathic generalized, susceptibility to, 16	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0007148	appendicitis, proneness to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0007169	atherosclerosis susceptibility	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013562	aspergillosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013665	epilepsy, juvenile myoclonic, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013713	dengue virus, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013814	podoconiosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013846	peripartum cardiomyopathy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013855	influenza, severe, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013908	thyrotoxic periodic paralysis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013909	human herpesvirus 8, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013919	epilepsy, idiopathic generalized, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0014151	pulmonary hypertension, neonatal, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0014251	melioidosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0014519	chronic mountain sickness, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0014734	epilepsy, idiopathic generalized, susceptibility to, 14	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0859183	Parkinson disease 24, autosomal dominant, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0859316	iron overload, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0859376	hydrocephalus, congenital, 5, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020573	inherited disease susceptibility		
http://purl.obolibrary.org/obo/MONDO_0007221	brachydactyly type C	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		
http://purl.obolibrary.org/obo/MONDO_0011757	brachydactyly type A1B	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		
http://purl.obolibrary.org/obo/MONDO_0017424	non-syndromic brachydactyly	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		
http://purl.obolibrary.org/obo/MONDO_0020701	brachydactyly type A1A	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		
http://purl.obolibrary.org/obo/MONDO_0021994	Berk-Tabatznik syndrome	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		
http://purl.obolibrary.org/obo/MONDO_0007217	brachydactyly type A3	http://purl.obolibrary.org/obo/MONDO_0021004	brachydactyly		
http://purl.obolibrary.org/obo/MONDO_0010375	developmental and epileptic encephalopathy, 8	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0017729	metachromatic leukodystrophy, late infantile form	http://purl.obolibrary.org/obo/MONDO_0009591	metachromatic leukodystrophy, juvenile form		
http://purl.obolibrary.org/obo/MONDO_0017730	metachromatic leukodystrophy, adult form	http://purl.obolibrary.org/obo/MONDO_0009591	metachromatic leukodystrophy, juvenile form		
http://purl.obolibrary.org/obo/MONDO_0010365	myopathy, congenital, with fiber-type disproportion, X-linked	http://purl.obolibrary.org/obo/MONDO_0009711	congenital fiber-type disproportion myopathy		
http://purl.obolibrary.org/obo/MONDO_0008069	necrotizing encephalomyelopathy, subacute, of Leigh, adult	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0019083	Leigh syndrome with cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0009723	Leigh syndrome		
http://purl.obolibrary.org/obo/MONDO_0054700	proteasome-associated autoinflammatory syndrome 2	http://purl.obolibrary.org/obo/MONDO_0009726	proteosome-associated autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0968983	proteasome-associated autoinflammatory syndrome 6	http://purl.obolibrary.org/obo/MONDO_0009726	proteosome-associated autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0030924	proteasome-associated autoinflammatory syndrome 5	http://purl.obolibrary.org/obo/MONDO_0009726	proteosome-associated autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0030931	proteasome-associated autoinflammatory syndrome 4	http://purl.obolibrary.org/obo/MONDO_0009726	proteosome-associated autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0017187	diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019265	diazoxide-resistant focal hyperinsulinism		
http://purl.obolibrary.org/obo/MONDO_0019333	autosomal recessive hyperinsulinism due to SUR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0015625	diazoxide-resistant diffuse hyperinsulinism		
http://purl.obolibrary.org/obo/MONDO_0020746	contractures, pterygia, and variable skeletal fusions syndrome 1B	http://purl.obolibrary.org/obo/MONDO_0020937	contractures, pterygia, and variable skeletal fusions syndrome		
http://purl.obolibrary.org/obo/MONDO_0008971	chondrodysplasia calcificans Metaphysealis	http://purl.obolibrary.org/obo/MONDO_0009943	Pyle disease		
http://purl.obolibrary.org/obo/MONDO_0000138	metaphyseal chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0009943	Pyle disease		
http://purl.obolibrary.org/obo/MONDO_0016993	generalized peeling skin syndrome type C	http://purl.obolibrary.org/obo/MONDO_0010033	generalized peeling skin syndrome		
http://purl.obolibrary.org/obo/MONDO_0010774	striatonigral degeneration, infantile, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010080	familial infantile bilateral striatal necrosis		
http://purl.obolibrary.org/obo/MONDO_0012097	spondylocostal dysostosis 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010180	autosomal recessive spondylocostal dysostosis		
http://purl.obolibrary.org/obo/MONDO_0020692	spondylocostal dysostosis 1, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010180	autosomal recessive spondylocostal dysostosis		
http://purl.obolibrary.org/obo/MONDO_0011068	type 1 diabetes mellitus 12	http://purl.obolibrary.org/obo/MONDO_0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012806	ectodermal dysplasia and immunodeficiency 2	http://purl.obolibrary.org/obo/MONDO_0010293	ectodermal dysplasia and immune deficiency		
http://purl.obolibrary.org/obo/MONDO_0020740	ectodermal dysplasia and immunodeficiency 1	http://purl.obolibrary.org/obo/MONDO_0100162	IKBKG-related immunodeficiency with or without ectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0035826	symptomatic form of X-linked centronuclear myopathy in female carriers	http://purl.obolibrary.org/obo/MONDO_0010683	X-linked myotubular myopathy		
http://purl.obolibrary.org/obo/MONDO_0800415	asthma, aspirin-induced, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		
http://purl.obolibrary.org/obo/MONDO_0012067	asthma-related traits, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		
http://purl.obolibrary.org/obo/MONDO_0012379	asthma-related traits, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		
http://purl.obolibrary.org/obo/MONDO_0012577	asthma-related traits, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		
http://purl.obolibrary.org/obo/MONDO_0012666	asthma-related traits, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		
http://purl.obolibrary.org/obo/MONDO_0013180	asthma-related traits, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0010940	inherited susceptibility to asthma		
http://purl.obolibrary.org/obo/MONDO_0012800	trichoepithelioma, multiple familial, 2	http://purl.obolibrary.org/obo/MONDO_0011114	familial multiple trichoepithelioma		
http://purl.obolibrary.org/obo/MONDO_0020681	Ehlers-Danlos syndrome, musculocontractural type 1	http://purl.obolibrary.org/obo/MONDO_0011142	Ehlers-Danlos syndrome, musculocontractural type		
http://purl.obolibrary.org/obo/MONDO_0017188	diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019265	diazoxide-resistant focal hyperinsulinism		
http://purl.obolibrary.org/obo/MONDO_0019334	autosomal recessive hyperinsulinism due to Kir6.2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015625	diazoxide-resistant diffuse hyperinsulinism		
http://purl.obolibrary.org/obo/MONDO_0009929	surfactant metabolism dysfunction, pulmonary, 1	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0010424	surfactant metabolism dysfunction, pulmonary, 4	http://purl.obolibrary.org/obo/MONDO_0012580	hereditary pulmonary alveolar proteinosis		
http://purl.obolibrary.org/obo/MONDO_0018603	SFTPC-related interstitial lung disease	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		
http://purl.obolibrary.org/obo/MONDO_0024465	surfactant metabolism dysfunction, pulmonary, 2	http://purl.obolibrary.org/obo/MONDO_0012580	hereditary pulmonary alveolar proteinosis		
http://purl.obolibrary.org/obo/MONDO_0014206	severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	http://purl.obolibrary.org/obo/MONDO_0012580	hereditary pulmonary alveolar proteinosis		
http://purl.obolibrary.org/obo/MONDO_0016323	chronic respiratory distress with surfactant metabolism deficiency	http://purl.obolibrary.org/obo/MONDO_0012580	hereditary pulmonary alveolar proteinosis		
http://purl.obolibrary.org/obo/MONDO_0011006	hereditary spastic paraplegia 9A	http://purl.obolibrary.org/obo/MONDO_0015091	autosomal dominant spastic paraplegia type 9		
http://purl.obolibrary.org/obo/MONDO_0018644	autosomal dominant complex spastic paraplegia type 9B	http://purl.obolibrary.org/obo/MONDO_0015091	autosomal dominant spastic paraplegia type 9		
http://purl.obolibrary.org/obo/MONDO_0100344	Bartter disease type 1	http://purl.obolibrary.org/obo/MONDO_0015231	Bartter syndrome		
http://purl.obolibrary.org/obo/MONDO_0033557	hemophagocytic lymphohistiocytosis, familial, 6	http://purl.obolibrary.org/obo/MONDO_0015541	hereditary hemophagocytic lymphohistiocytosis		
http://purl.obolibrary.org/obo/MONDO_0010388	rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0015637	benign non-familial infantile seizures	http://purl.obolibrary.org/obo/MONDO_0015642	benign partial infantile seizures		
http://purl.obolibrary.org/obo/MONDO_0859390	epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0010850	Tessier number 4 facial cleft	http://purl.obolibrary.org/obo/MONDO_0015824	oculomaxillofacial dysostosis		
http://purl.obolibrary.org/obo/MONDO_0011139	preaxial hallucal polydactyly	http://purl.obolibrary.org/obo/MONDO_0016018	diabetic embryopathy		
http://purl.obolibrary.org/obo/MONDO_0979359	TARDBP-related predominantly upper-limb distal myopathy	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		
http://purl.obolibrary.org/obo/MONDO_0979361	asymetric thumb-handgrip weakness-distal myopathy	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		
http://purl.obolibrary.org/obo/MONDO_0979362	calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	http://purl.obolibrary.org/obo/MONDO_0016108	autosomal dominant distal myopathy		
http://purl.obolibrary.org/obo/MONDO_0032591	hyperparathyroidism, transient neonatal	http://purl.obolibrary.org/obo/MONDO_0800096	abnormal mineralization disorder		
http://purl.obolibrary.org/obo/MONDO_0011184	childhood apraxia of speech	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0850030	complete hemimelia	http://purl.obolibrary.org/obo/MONDO_0016240	hemimelia		
http://purl.obolibrary.org/obo/MONDO_0010799	deafness, aminoglycoside-induced	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0030062	arrhythmogenic right ventricular dysplasia, familial, 14	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017401	familial isolated arrhythmogenic ventricular dysplasia, left dominant form	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017402	familial isolated arrhythmogenic ventricular dysplasia, biventricular form	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017403	familial isolated arrhythmogenic ventricular dysplasia, right dominant form	http://purl.obolibrary.org/obo/MONDO_0016342	familial isolated arrhythmogenic right ventricular dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017116	congenital communicating hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0016349	congenital hydrocephalus		
http://purl.obolibrary.org/obo/MONDO_0017117	congenital non-communicating hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0016349	congenital hydrocephalus		
http://purl.obolibrary.org/obo/MONDO_0800313	xeroderma pigmentosum, type F/Cockayne syndrome	http://purl.obolibrary.org/obo/MONDO_0016354	xeroderma pigmentosum-Cockayne syndrome complex		
http://purl.obolibrary.org/obo/MONDO_0800314	xeroderma pigmentosum, type G/Cockayne syndrome	http://purl.obolibrary.org/obo/MONDO_0016354	xeroderma pigmentosum-Cockayne syndrome complex		
http://purl.obolibrary.org/obo/MONDO_0016598	autosomal recessive secondary polycythemia not associated with VHL gene	http://purl.obolibrary.org/obo/MONDO_0016540	congenital secondary polycythemia		
http://purl.obolibrary.org/obo/MONDO_0012074	mandibuloacral dysplasia with type B lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0021106	laminopathy		
http://purl.obolibrary.org/obo/MONDO_0012870	chromosome 2q31.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016901	partial deletion of the long arm of chromosome 2		
http://purl.obolibrary.org/obo/MONDO_0017180	10q22.3q23.3 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016961	partial duplication of the long arm of chromosome 10		
http://purl.obolibrary.org/obo/MONDO_0010507	Xq25 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0017010	partial duplication of the long arm of chromosome X		
http://purl.obolibrary.org/obo/MONDO_0016423	autoimmune polyendocrinopathy type 4	http://purl.obolibrary.org/obo/MONDO_0017278	autoimmune polyendocrinopathy		
http://purl.obolibrary.org/obo/MONDO_0009864	phosphoenolpyruvate carboxykinase deficiency, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0017320	phosphoenolpyruvate carboxykinase deficiency		
http://purl.obolibrary.org/obo/MONDO_0011432	blepharophimosis - intellectual disability syndrome, Verloes type	http://purl.obolibrary.org/obo/MONDO_0017393	blepharophimosis - intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0017659	sporadic hyperekplexia	http://purl.obolibrary.org/obo/MONDO_0017658	hyperekplexia		
http://purl.obolibrary.org/obo/MONDO_0009505	lactic aciduria due to D-lactic acid	http://purl.obolibrary.org/obo/MONDO_0017688	disorder of glycolysis		
http://purl.obolibrary.org/obo/MONDO_0013536	heme oxygenase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017754	inborn disorder of porphyrin metabolism		
http://purl.obolibrary.org/obo/MONDO_0054601	pituitary adenoma 5, multiple types	http://purl.obolibrary.org/obo/MONDO_0017824	familial isolated pituitary adenoma		
http://purl.obolibrary.org/obo/MONDO_0054665	pituitary adenoma 3, multiple types	http://purl.obolibrary.org/obo/MONDO_0017824	familial isolated pituitary adenoma		
http://purl.obolibrary.org/obo/MONDO_0034146	spastic ataxia-dysarthria due to glutaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0600001	glutaminase deficiency		
http://purl.obolibrary.org/obo/MONDO_0017866	subpulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0017865	congenital pulmonary valve stenosis		
http://purl.obolibrary.org/obo/MONDO_0017870	supravalvular pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0017865	congenital pulmonary valve stenosis		
http://purl.obolibrary.org/obo/MONDO_0012444	neurodegeneration with brain iron accumulation 2B	http://purl.obolibrary.org/obo/MONDO_0017998	PLA2G6-associated neurodegeneration		
http://purl.obolibrary.org/obo/MONDO_0014576	lipoyl transferase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0018424	inherited lipoic acid biosynthesis defect		
http://purl.obolibrary.org/obo/MONDO_0009968	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0018440	autosomal recessive distal renal tubular acidosis		
http://purl.obolibrary.org/obo/MONDO_0019231	inborn disorder of pentose phosphate metabolism	http://purl.obolibrary.org/obo/MONDO_0018605	disorders of pentose/polyol metabolism		
http://purl.obolibrary.org/obo/MONDO_0010070	brachyolmia type 1, Hobaek type	http://purl.obolibrary.org/obo/MONDO_0018662	autosomal recessive brachyolmia		
http://purl.obolibrary.org/obo/MONDO_0010074	brachyolmia type 1, toledo type	http://purl.obolibrary.org/obo/MONDO_0018662	autosomal recessive brachyolmia		
http://purl.obolibrary.org/obo/MONDO_0010511	vas deferens, congenital bilateral aplasia of, X-linked	http://purl.obolibrary.org/obo/MONDO_0018801	congenital bilateral absence of vas deferens		
http://purl.obolibrary.org/obo/MONDO_0800311	vas deferens, congenital unilateral aplasia of	http://purl.obolibrary.org/obo/MONDO_0018801	congenital bilateral absence of vas deferens		
http://purl.obolibrary.org/obo/MONDO_0979300	PPARG-associated congenital generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0018883	Berardinelli-Seip congenital lipodystrophy		
http://purl.obolibrary.org/obo/MONDO_0010596	membranoproliferative glomerulonephritis, X-linked	http://purl.obolibrary.org/obo/MONDO_0018904	primary membranoproliferative glomerulonephritis		
http://purl.obolibrary.org/obo/MONDO_0009647	Morquio syndrome C	http://purl.obolibrary.org/obo/MONDO_0018938	mucopolysaccharidosis type 4		
http://purl.obolibrary.org/obo/MONDO_0017939	classic multiminicore myopathy	http://purl.obolibrary.org/obo/MONDO_0100493	autosomal recessive titinopathy		
http://purl.obolibrary.org/obo/MONDO_0015793	moderate multiminicore disease with hand involvement	http://purl.obolibrary.org/obo/MONDO_0018948	multiminicore myopathy		
http://purl.obolibrary.org/obo/MONDO_0015794	antenatal multiminicore disease with arthrogryposis multiplex congenita	http://purl.obolibrary.org/obo/MONDO_0018948	multiminicore myopathy		
http://purl.obolibrary.org/obo/MONDO_0017683	methylcobalamin deficiency type cblDv1	http://purl.obolibrary.org/obo/MONDO_0100463	methylmalonic aciduria and/or homocystinuria, cblD type		
http://purl.obolibrary.org/obo/MONDO_0700297	homocystinuria-megaloblastic anemia cblD type	http://purl.obolibrary.org/obo/MONDO_0018964	homocystinuria without methylmalonic aciduria		
http://purl.obolibrary.org/obo/MONDO_0016306	Niemann-Pick disease type C, severe perinatal form	http://purl.obolibrary.org/obo/MONDO_0018982	Niemann-Pick disease type C		
http://purl.obolibrary.org/obo/MONDO_0016307	Niemann-Pick disease type C, severe early infantile neurologic onset	http://purl.obolibrary.org/obo/MONDO_0018982	Niemann-Pick disease type C		
http://purl.obolibrary.org/obo/MONDO_0016308	Niemann-Pick disease type C, late infantile neurologic onset	http://purl.obolibrary.org/obo/MONDO_0018982	Niemann-Pick disease type C		
http://purl.obolibrary.org/obo/MONDO_0016309	Niemann-Pick disease type C, juvenile neurologic onset	http://purl.obolibrary.org/obo/MONDO_0018982	Niemann-Pick disease type C		
http://purl.obolibrary.org/obo/MONDO_0016310	Niemann-Pick disease type C, adult neurologic onset	http://purl.obolibrary.org/obo/MONDO_0018982	Niemann-Pick disease type C		
http://purl.obolibrary.org/obo/MONDO_0019652	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0019653	familial idiopathic steroid-resistant nephrotic syndrome with minimal changes	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0019654	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	http://purl.obolibrary.org/obo/MONDO_0019006	familial idiopathic steroid-resistant nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0957262	osteopetrosis, autosomal recessive 9	http://purl.obolibrary.org/obo/MONDO_0019026	autosomal recessive osteopetrosis		
http://purl.obolibrary.org/obo/MONDO_0859081	chromosome Xq13 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		
http://purl.obolibrary.org/obo/MONDO_0859155	chromosome 1p36 deletion syndrome, proximal	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		
http://purl.obolibrary.org/obo/MONDO_0859210	chromosome 16q12 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0019040	chromosomal disorder		
http://purl.obolibrary.org/obo/MONDO_0013974	ectodermal dysplasia 6, hair/nail type	http://purl.obolibrary.org/obo/MONDO_0019071	pure hair and nail ectodermal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0010525	neural tube defects, X-linked	http://purl.obolibrary.org/obo/MONDO_0019351	isolated spina bifida		
http://purl.obolibrary.org/obo/MONDO_0011120	neural tube defects, folate-sensitive	http://purl.obolibrary.org/obo/MONDO_0019351	isolated spina bifida		
http://purl.obolibrary.org/obo/MONDO_0017062	spina bifida aperta	http://purl.obolibrary.org/obo/MONDO_0019351	isolated spina bifida		
http://purl.obolibrary.org/obo/MONDO_0010089	isolated sulfite oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0019358	encephalopathy due to sulfite oxidase deficiency		
http://purl.obolibrary.org/obo/MONDO_0032792	neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	http://purl.obolibrary.org/obo/MONDO_0019551	hereditary motor and sensory neuropathy type 6		
http://purl.obolibrary.org/obo/MONDO_0016159	Gemignani syndrome	http://purl.obolibrary.org/obo/MONDO_0020047	autosomal recessive syndromic cerebellar ataxia		
http://purl.obolibrary.org/obo/MONDO_0030436	anemia, sideroblastic, 5	http://purl.obolibrary.org/obo/MONDO_0020099	inherited sideroblastic anemia		
http://purl.obolibrary.org/obo/MONDO_0010314	polymicrogyria, bilateral perisylvian, X-linked	http://purl.obolibrary.org/obo/MONDO_0020340	bilateral perisylvian polymicrogyria		
http://purl.obolibrary.org/obo/MONDO_0014333	polymicrogyria, bilateral perisylvian, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0009643	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	http://purl.obolibrary.org/obo/MONDO_0020480	sulfite oxidase deficiency due to molybdenum cofactor deficiency		
http://purl.obolibrary.org/obo/MONDO_0009644	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1	http://purl.obolibrary.org/obo/MONDO_0020480	sulfite oxidase deficiency due to molybdenum cofactor deficiency		
http://purl.obolibrary.org/obo/MONDO_0980701	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2	http://purl.obolibrary.org/obo/MONDO_0020480	sulfite oxidase deficiency due to molybdenum cofactor deficiency		
http://purl.obolibrary.org/obo/MONDO_0010873	band heterotopia of brain	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0009992	myoglobinuria, acute recurrent, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0034987	intraductal tubulopapillary neoplasm of pancreas	http://purl.obolibrary.org/obo/MONDO_0021040	pancreatic neoplasm		
http://purl.obolibrary.org/obo/MONDO_0859692	immune-mediated cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0016593	acquired ataxia		
http://purl.obolibrary.org/obo/MONDO_0979286	sickle cell-beta zero-thalassemia	http://purl.obolibrary.org/obo/MONDO_0016668	sickle cell-beta-thalassemia disease syndrome		
http://purl.obolibrary.org/obo/MONDO_0979287	sickle cell-beta plus-thalassemia	http://purl.obolibrary.org/obo/MONDO_0016668	sickle cell-beta-thalassemia disease syndrome		
http://purl.obolibrary.org/obo/MONDO_0016802	mitochondrial protein import disorder	http://purl.obolibrary.org/obo/MONDO_0016800	mitochondrial membrane transport disorder		
http://purl.obolibrary.org/obo/MONDO_0020754	visceral myopathy 1	http://purl.obolibrary.org/obo/MONDO_0016829	familial visceral myopathy		
http://purl.obolibrary.org/obo/MONDO_0859157	visceral myopathy 2	http://purl.obolibrary.org/obo/MONDO_0016829	familial visceral myopathy		
http://purl.obolibrary.org/obo/MONDO_0019320	acanthokeratolytic verrucous nevus	http://purl.obolibrary.org/obo/MONDO_0016831	linear verrucous nevus syndrome		
http://purl.obolibrary.org/obo/MONDO_0019318	inflammatory linear verrucous epidermal nevus	http://purl.obolibrary.org/obo/MONDO_0016831	linear verrucous nevus syndrome		
http://purl.obolibrary.org/obo/MONDO_0016884	partial deletion of the short arm of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0016867	partial deletion of chromosome 2		
http://purl.obolibrary.org/obo/MONDO_0016885	partial deletion of the short arm of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0016868	partial deletion of chromosome 3		
http://purl.obolibrary.org/obo/MONDO_0016902	partial deletion of the long arm of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0016868	partial deletion of chromosome 3		
http://purl.obolibrary.org/obo/MONDO_0035521	blepharophimosis-ptosis-epicanthus inversus syndrome plus	http://purl.obolibrary.org/obo/MONDO_0016868	partial deletion of chromosome 3		
http://purl.obolibrary.org/obo/MONDO_0022762	chromosome 4 short arm deletion	http://purl.obolibrary.org/obo/MONDO_0016869	partial deletion of chromosome 4		
http://purl.obolibrary.org/obo/MONDO_0016888	partial deletion of the short arm of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016871	partial deletion of chromosome 6		
http://purl.obolibrary.org/obo/MONDO_0016908	partial monosomy of the long arm of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0016874	partial deletion of chromosome 9		
http://purl.obolibrary.org/obo/MONDO_0016909	partial monosomy of the long arm of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016875	partial deletion of chromosome 10		
http://purl.obolibrary.org/obo/MONDO_0016914	partial deletion of the long arm of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0016878	partial deletion of chromosome 16		
http://purl.obolibrary.org/obo/MONDO_0016915	partial deletion of the long arm of chromosome 17	http://purl.obolibrary.org/obo/MONDO_0016879	partial deletion of chromosome 17		
http://purl.obolibrary.org/obo/MONDO_0016897	partial deletion of the short arm of chromosome 19	http://purl.obolibrary.org/obo/MONDO_0016881	partial deletion of chromosome 19		
http://purl.obolibrary.org/obo/MONDO_0016917	partial deletion of the long arm of chromosome 19	http://purl.obolibrary.org/obo/MONDO_0016881	partial deletion of chromosome 19		
http://purl.obolibrary.org/obo/MONDO_0016898	partial monosomy of the short arm of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0016882	partial deletion of chromosome 20		
http://purl.obolibrary.org/obo/MONDO_0016918	partial deletion of the long arm of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0016882	partial deletion of chromosome 20		
http://purl.obolibrary.org/obo/MONDO_0018131	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion	http://purl.obolibrary.org/obo/MONDO_0018681	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0016845	21q22.11q22.12 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016919	partial deletion of the long arm of chromosome 21		
http://purl.obolibrary.org/obo/MONDO_0017056	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	http://purl.obolibrary.org/obo/MONDO_0013578	DYRK1A-related intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0017012	partial duplication of the short arm of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0016921	partial duplication of chromosome 1		
http://purl.obolibrary.org/obo/MONDO_0016952	partial duplication of the long arm of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0016921	partial duplication of chromosome 1		
http://purl.obolibrary.org/obo/MONDO_0016941	partial duplication of the short arm of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0016924	partial duplication of chromosome 4		
http://purl.obolibrary.org/obo/MONDO_0016942	partial trisomy/tetrasomy of the short arm of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0016925	partial trisomy/tetrasomy of chromosome 5		
http://purl.obolibrary.org/obo/MONDO_0016960	partial trisomy of the long arm of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0016930	partial trisomy/tetrasomy of chromosome 9		
http://purl.obolibrary.org/obo/MONDO_0700043	syndrome caused by partial chromosomal duplication of the short arm of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0016930	partial trisomy/tetrasomy of chromosome 9		
http://purl.obolibrary.org/obo/MONDO_0016961	partial duplication of the long arm of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016931	partial duplication of chromosome 10		
http://purl.obolibrary.org/obo/MONDO_0016947	partial duplication of the short arm of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016931	partial duplication of chromosome 10		
http://purl.obolibrary.org/obo/MONDO_0022173	chromosome 11q trisomy	http://purl.obolibrary.org/obo/MONDO_0016932	partial duplication of chromosome 11		
http://purl.obolibrary.org/obo/MONDO_0016948	partial duplication of the short arm of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016932	partial duplication of chromosome 11		
http://purl.obolibrary.org/obo/MONDO_0016966	partial trisomy of the long arm of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0016934	partial duplication of chromosome 16		
http://purl.obolibrary.org/obo/MONDO_0016967	partial duplication of the long arm of chromosome 17	http://purl.obolibrary.org/obo/MONDO_0016935	partial duplication of chromosome 17		
http://purl.obolibrary.org/obo/MONDO_0016950	partial duplication of the short arm of chromosome 17	http://purl.obolibrary.org/obo/MONDO_0016935	partial duplication of chromosome 17		
http://purl.obolibrary.org/obo/MONDO_0016951	partial trisomy/tetrasomy of the short arm of chromosome 18	http://purl.obolibrary.org/obo/MONDO_0016936	partial trisomy/tetrasomy of chromosome 18		
http://purl.obolibrary.org/obo/MONDO_0016968	partial trisomy of the long arm of chromosome 18	http://purl.obolibrary.org/obo/MONDO_0016936	partial trisomy/tetrasomy of chromosome 18		
http://purl.obolibrary.org/obo/MONDO_0018659	partial duplication of the short arm of chromosome 19	http://purl.obolibrary.org/obo/MONDO_0016937	partial duplication of chromosome 19		
http://purl.obolibrary.org/obo/MONDO_0016969	partial duplication of the long arm of chromosome 19	http://purl.obolibrary.org/obo/MONDO_0016937	partial duplication of chromosome 19		
http://purl.obolibrary.org/obo/MONDO_0016970	partial trisomy of the long arm of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0016938	partial trisomy of chromosome 20		
http://purl.obolibrary.org/obo/MONDO_0017004	partial monosomy of the short arm of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017003	partial deletion of chromosome X		
http://purl.obolibrary.org/obo/MONDO_0017007	partial deletion of the long arm of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017003	partial deletion of chromosome X		
http://purl.obolibrary.org/obo/MONDO_0017009	partial duplication of the short arm of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017008	partial duplication of chromosome X		
http://purl.obolibrary.org/obo/MONDO_0017015	primary interstitial lung disease specific to childhood	http://purl.obolibrary.org/obo/MONDO_0017014	interstitial lung disease specific to childhood		
http://purl.obolibrary.org/obo/MONDO_0017063	total spina bifida aperta	http://purl.obolibrary.org/obo/MONDO_0017062	spina bifida aperta		
http://purl.obolibrary.org/obo/MONDO_0017064	thoracolumbosacral spina bifida aperta	http://purl.obolibrary.org/obo/MONDO_0017062	spina bifida aperta		
http://purl.obolibrary.org/obo/MONDO_0017065	lumbosacral spina bifida aperta	http://purl.obolibrary.org/obo/MONDO_0017062	spina bifida aperta		
http://purl.obolibrary.org/obo/MONDO_0017066	cervical spina bifida aperta	http://purl.obolibrary.org/obo/MONDO_0017062	spina bifida aperta		
http://purl.obolibrary.org/obo/MONDO_0017067	cervicothoracic spina bifida aperta	http://purl.obolibrary.org/obo/MONDO_0017062	spina bifida aperta		
http://purl.obolibrary.org/obo/MONDO_0017068	upper thoracic spina bifida aperta	http://purl.obolibrary.org/obo/MONDO_0017062	spina bifida aperta		
http://purl.obolibrary.org/obo/MONDO_0017096	isolated focal cortical dysplasia type Ia	http://purl.obolibrary.org/obo/MONDO_0017095	isolated focal cortical dysplasia type I		
http://purl.obolibrary.org/obo/MONDO_0017097	isolated focal cortical dysplasia type Ib	http://purl.obolibrary.org/obo/MONDO_0017095	isolated focal cortical dysplasia type I		
http://purl.obolibrary.org/obo/MONDO_0017098	isolated focal cortical dysplasia type Ic	http://purl.obolibrary.org/obo/MONDO_0017095	isolated focal cortical dysplasia type I		
http://purl.obolibrary.org/obo/MONDO_0017108	isolated total cerebellar vermis agenesis	http://purl.obolibrary.org/obo/MONDO_0017107	isolated cerebellar vermis agenesis		
http://purl.obolibrary.org/obo/MONDO_0017109	isolated partial cerebellar vermis agenesis	http://purl.obolibrary.org/obo/MONDO_0017107	isolated cerebellar vermis agenesis		
http://purl.obolibrary.org/obo/MONDO_0009935	pulmonary hypertension, primary, 5	http://purl.obolibrary.org/obo/MONDO_0017148	heritable pulmonary arterial hypertension		
http://purl.obolibrary.org/obo/MONDO_0958334	pulmonary hypertension, primary, 6	http://purl.obolibrary.org/obo/MONDO_0017148	heritable pulmonary arterial hypertension		
http://purl.obolibrary.org/obo/MONDO_0979237	pulmonary hypertension, primary, 7	http://purl.obolibrary.org/obo/MONDO_0017148	heritable pulmonary arterial hypertension		
http://purl.obolibrary.org/obo/MONDO_0017191	sporadic pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0017190	sporadic pheochromocytoma/secreting paraganglioma		
http://purl.obolibrary.org/obo/MONDO_0017192	sporadic secreting paraganglioma	http://purl.obolibrary.org/obo/MONDO_0017190	sporadic pheochromocytoma/secreting paraganglioma		
http://purl.obolibrary.org/obo/MONDO_0017926	multiple paragangliomas associated with polycythemia	http://purl.obolibrary.org/obo/MONDO_0017190	sporadic pheochromocytoma/secreting paraganglioma		
http://purl.obolibrary.org/obo/MONDO_0016206	idiopathic uveal effusion syndrome	http://purl.obolibrary.org/obo/MONDO_0017258	idiopathic panuveitis		
http://purl.obolibrary.org/obo/MONDO_0016877	partial deletion of the long arm of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0017277	partial deletion of chromosome 12		
http://purl.obolibrary.org/obo/MONDO_0019325	phakomatosis cesioflammea	http://purl.obolibrary.org/obo/MONDO_0017318	phakomatosis pigmentovascularis		
http://purl.obolibrary.org/obo/MONDO_0019326	phakomatosis cesiomarmorata	http://purl.obolibrary.org/obo/MONDO_0017318	phakomatosis pigmentovascularis		
http://purl.obolibrary.org/obo/MONDO_0019327	phakomatosis spilorosea	http://purl.obolibrary.org/obo/MONDO_0017318	phakomatosis pigmentovascularis		
http://purl.obolibrary.org/obo/MONDO_0017345	Epstein-Barr virus-associated mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0017342	Epstein-Barr virus-related tumor		
http://purl.obolibrary.org/obo/MONDO_0017344	Epstein-Barr virus-associated carcinoma	http://purl.obolibrary.org/obo/MONDO_0017342	Epstein-Barr virus-related tumor		
http://purl.obolibrary.org/obo/MONDO_0017439	tetra-amelia	http://purl.obolibrary.org/obo/MONDO_0017419	non-syndromic amelia		
http://purl.obolibrary.org/obo/MONDO_0017478	amelia of upper limb, unilateral	http://purl.obolibrary.org/obo/MONDO_0017437	amelia of upper limb		
http://purl.obolibrary.org/obo/MONDO_0017479	amelia of upper limb, bilateral	http://purl.obolibrary.org/obo/MONDO_0017437	amelia of upper limb		
http://purl.obolibrary.org/obo/MONDO_0017480	amelia of lower limb, unilateral	http://purl.obolibrary.org/obo/MONDO_0017438	amelia of lower limb		
http://purl.obolibrary.org/obo/MONDO_0017481	amelia of lower limb, bilateral	http://purl.obolibrary.org/obo/MONDO_0017438	amelia of lower limb		
http://purl.obolibrary.org/obo/MONDO_0017482	humeral agenesis/hypoplasia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017440	humeral agenesis/hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0017483	humeral agenesis/hypoplasia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017440	humeral agenesis/hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0017496	congenital absence of thigh and lower leg with foot present, unilateral	http://purl.obolibrary.org/obo/MONDO_0017442	congenital absence of thigh and lower leg with foot present		
http://purl.obolibrary.org/obo/MONDO_0017497	congenital absence of thigh and lower leg with foot present, bilateral	http://purl.obolibrary.org/obo/MONDO_0017442	congenital absence of thigh and lower leg with foot present		
http://purl.obolibrary.org/obo/MONDO_0017500	congenital absence of both lower leg and foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0017444	congenital absence of both lower leg and foot		
http://purl.obolibrary.org/obo/MONDO_0017501	congenital absence of both lower leg and foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0017444	congenital absence of both lower leg and foot		
http://purl.obolibrary.org/obo/MONDO_0017502	acheiria, unilateral	http://purl.obolibrary.org/obo/MONDO_0017445	acheiria		
http://purl.obolibrary.org/obo/MONDO_0017503	acheiria, bilateral	http://purl.obolibrary.org/obo/MONDO_0017445	acheiria		
http://purl.obolibrary.org/obo/MONDO_0017504	apodia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017446	apodia		
http://purl.obolibrary.org/obo/MONDO_0017505	apodia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017446	apodia		
http://purl.obolibrary.org/obo/MONDO_0017513	split foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0017450	split foot		
http://purl.obolibrary.org/obo/MONDO_0017514	split foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0017450	split foot		
http://purl.obolibrary.org/obo/MONDO_0017515	brachydactyly of fingers, unilateral	http://purl.obolibrary.org/obo/MONDO_0017451	non-syndromic brachydactyly of fingers		
http://purl.obolibrary.org/obo/MONDO_0017516	brachydactyly of fingers, bilateral	http://purl.obolibrary.org/obo/MONDO_0017451	non-syndromic brachydactyly of fingers		
http://purl.obolibrary.org/obo/MONDO_0017517	brachydactyly of toes, unilateral	http://purl.obolibrary.org/obo/MONDO_0017452	non-syndromic brachydactyly of toes		
http://purl.obolibrary.org/obo/MONDO_0017518	brachydactyly of toes, bilateral	http://purl.obolibrary.org/obo/MONDO_0017452	non-syndromic brachydactyly of toes		
http://purl.obolibrary.org/obo/MONDO_0017521	hyperphalangy, unilateral	http://purl.obolibrary.org/obo/MONDO_0017455	hyperphalangy		
http://purl.obolibrary.org/obo/MONDO_0017522	hyperphalangy, bilateral	http://purl.obolibrary.org/obo/MONDO_0017455	hyperphalangy		
http://purl.obolibrary.org/obo/MONDO_0017558	congenital elbow dislocation, unilateral	http://purl.obolibrary.org/obo/MONDO_0017469	congenital elbow dislocation		
http://purl.obolibrary.org/obo/MONDO_0017559	congenital elbow dislocation, bilateral	http://purl.obolibrary.org/obo/MONDO_0017469	congenital elbow dislocation		
http://purl.obolibrary.org/obo/MONDO_0017561	congenital genu flexum	http://purl.obolibrary.org/obo/MONDO_0017470	congenital knee dislocation		
http://purl.obolibrary.org/obo/MONDO_0018180	staphylococcal scarlet fever	http://purl.obolibrary.org/obo/MONDO_0017592	staphylococcal toxemia		
http://purl.obolibrary.org/obo/MONDO_0007445	dermatopathia pigmentosa reticularis	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		
http://purl.obolibrary.org/obo/MONDO_0007866	Bart-Pumphrey syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0008416	palmoplantar keratoderma-sclerodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0010849	palmoplantar keratoderma, Bothnian type	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0018250	diffuse palmoplantar keratoderma with painful fissures	http://purl.obolibrary.org/obo/MONDO_0017666	diffuse palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0014089	corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	http://purl.obolibrary.org/obo/MONDO_0020212	superficial corneal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0018252	focal palmoplantar keratoderma with joint keratoses	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0014622	isolated focal non-epidermolytic palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0017758	disorder of vitamin and non-protein cofactor absorption and transport	http://purl.obolibrary.org/obo/MONDO_0017757	disorder of metabolite absorption and transport		
http://purl.obolibrary.org/obo/MONDO_0017761	disorder of mineral absorption and transport	http://purl.obolibrary.org/obo/MONDO_0017757	disorder of metabolite absorption and transport		
http://purl.obolibrary.org/obo/MONDO_0017578	disorder of thiamine metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0017758	disorder of vitamin and non-protein cofactor absorption and transport		
http://purl.obolibrary.org/obo/MONDO_0017766	disorder of manganese transport	http://purl.obolibrary.org/obo/MONDO_0017761	disorder of mineral absorption and transport		
http://purl.obolibrary.org/obo/MONDO_0017763	disorder of iron metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0017761	disorder of mineral absorption and transport		
http://purl.obolibrary.org/obo/MONDO_0017823	somatomammotropinoma	http://purl.obolibrary.org/obo/MONDO_0017822	mixed functioning pituitary adenoma		
http://purl.obolibrary.org/obo/MONDO_0017835	lymphocytic hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0017834	secondary hypereosinophilic syndrome		
http://purl.obolibrary.org/obo/MONDO_0017245	intralobar congenital pulmonary sequestration	http://purl.obolibrary.org/obo/MONDO_0017843	congenital pulmonary sequestration		
http://purl.obolibrary.org/obo/MONDO_0017246	extralobar congenital pulmonary sequestration	http://purl.obolibrary.org/obo/MONDO_0017843	congenital pulmonary sequestration		
http://purl.obolibrary.org/obo/MONDO_0017247	communicating congenital bronchopulmonary-foregut malformation	http://purl.obolibrary.org/obo/MONDO_0017843	congenital pulmonary sequestration		
http://purl.obolibrary.org/obo/MONDO_0975895	non-fibrotic hypersensitivity pneumonitis	http://purl.obolibrary.org/obo/MONDO_0017853	hypersensitivity pneumonitis		
http://purl.obolibrary.org/obo/MONDO_0957556	congenital pulmonary vein atresia	http://purl.obolibrary.org/obo/MONDO_0017864	congenital pulmonary veins atresia or stenosis		
http://purl.obolibrary.org/obo/MONDO_0009625	diencephalic-mesencephalic junction dysplasia syndrome 1	http://purl.obolibrary.org/obo/MONDO_0017868	diencephalic-mesencephalic junction dysplasia		
http://purl.obolibrary.org/obo/MONDO_0020762	diencephalic-mesencephalic junction dysplasia syndrome 2	http://purl.obolibrary.org/obo/MONDO_0017868	diencephalic-mesencephalic junction dysplasia		
http://purl.obolibrary.org/obo/MONDO_0035639	mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	http://purl.obolibrary.org/obo/MONDO_0020743	mixed phenotype acute leukemia		
http://purl.obolibrary.org/obo/MONDO_0035642	mixed phenotype acute leukemia with t(v;11q23.3)	http://purl.obolibrary.org/obo/MONDO_0020743	mixed phenotype acute leukemia		
http://purl.obolibrary.org/obo/MONDO_0017548	humero-radio-ulnar synostosis, unilateral	http://purl.obolibrary.org/obo/MONDO_0017983	humero-radio-ulnar synostosis		
http://purl.obolibrary.org/obo/MONDO_0017549	humero-radio-ulnar synostosis, bilateral	http://purl.obolibrary.org/obo/MONDO_0017983	humero-radio-ulnar synostosis		
http://purl.obolibrary.org/obo/MONDO_0017554	radio-ulnar synostosis, unilateral	http://purl.obolibrary.org/obo/MONDO_0017985	congenital radioulnar synostosis		
http://purl.obolibrary.org/obo/MONDO_0017555	radio-ulnar synostosis, bilateral	http://purl.obolibrary.org/obo/MONDO_0017985	congenital radioulnar synostosis		
http://purl.obolibrary.org/obo/MONDO_0971107	common arterial trunk with aortic dominance	http://purl.obolibrary.org/obo/MONDO_0018072	persistent truncus arteriosus		
http://purl.obolibrary.org/obo/MONDO_0971108	common arterial trunk with pulmonary dominance and interrupted aortic arch	http://purl.obolibrary.org/obo/MONDO_0018072	persistent truncus arteriosus		
http://purl.obolibrary.org/obo/MONDO_0017556	Madelung deformity, unilateral	http://purl.obolibrary.org/obo/MONDO_0018154	Madelung deformity		
http://purl.obolibrary.org/obo/MONDO_0017557	Madelung deformity, bilateral	http://purl.obolibrary.org/obo/MONDO_0018154	Madelung deformity		
http://purl.obolibrary.org/obo/MONDO_0035460	idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy	http://purl.obolibrary.org/obo/MONDO_0018170	idiopathic nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0010201	Winchester syndrome	http://purl.obolibrary.org/obo/MONDO_0018298	multicentric osteolysis-nodulosis-arthropathy spectrum		
http://purl.obolibrary.org/obo/MONDO_0018357	neonatal antiphospholipid syndrome	http://purl.obolibrary.org/obo/MONDO_0021008	secondary antiphospholipid syndrome		
http://purl.obolibrary.org/obo/MONDO_0018361	neonatal scleroderma	http://purl.obolibrary.org/obo/MONDO_0019340	scleroderma		
http://purl.obolibrary.org/obo/MONDO_0018374	secondary avascular necrosis	http://purl.obolibrary.org/obo/MONDO_0018373	avascular necrosis		
http://purl.obolibrary.org/obo/MONDO_0018379	primary avascular necrosis	http://purl.obolibrary.org/obo/MONDO_0018373	avascular necrosis		
http://purl.obolibrary.org/obo/MONDO_0013143	hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		
http://purl.obolibrary.org/obo/MONDO_0018375	traumatic avascular necrosis	http://purl.obolibrary.org/obo/MONDO_0018374	secondary avascular necrosis		
http://purl.obolibrary.org/obo/MONDO_0018376	secondary non-traumatic avascular necrosis	http://purl.obolibrary.org/obo/MONDO_0018374	secondary avascular necrosis		
http://purl.obolibrary.org/obo/MONDO_0017509	adactyly of foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0018563	adactyly of foot		
http://purl.obolibrary.org/obo/MONDO_0017510	adactyly of foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0018563	adactyly of foot		
http://purl.obolibrary.org/obo/MONDO_0019440	wild type ABeta2M amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018590	ABeta2M amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0979334	necrotizing cellulitis	http://purl.obolibrary.org/obo/MONDO_0018602	necrotizing soft tissue infection		
http://purl.obolibrary.org/obo/MONDO_0979337	necrotizing myositis	http://purl.obolibrary.org/obo/MONDO_0018602	necrotizing soft tissue infection		
http://purl.obolibrary.org/obo/MONDO_0034976	iatrogenic Creutzfeldt-Jakob disease	http://purl.obolibrary.org/obo/MONDO_0043544	nosocomial infection		
http://purl.obolibrary.org/obo/MONDO_0036484	Charcot-Marie-Tooth disease, dominant intermediate G	http://purl.obolibrary.org/obo/MONDO_0018778	intermediate Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0018168	primary non-essential cutis verticis gyrata	http://purl.obolibrary.org/obo/MONDO_0019033	primary cutis verticis gyrata		
http://purl.obolibrary.org/obo/MONDO_0022912	cutis verticis gyrata mental deficiency	http://purl.obolibrary.org/obo/MONDO_0019033	primary cutis verticis gyrata		
http://purl.obolibrary.org/obo/MONDO_0019649	idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis	http://purl.obolibrary.org/obo/MONDO_0019067	idiopathic steroid-sensitive nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0019650	idiopathic steroid-sensitive nephrotic syndrome with minimal change	http://purl.obolibrary.org/obo/MONDO_0019067	idiopathic steroid-sensitive nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0019651	idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation	http://purl.obolibrary.org/obo/MONDO_0019067	idiopathic steroid-sensitive nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0035764	idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance	http://purl.obolibrary.org/obo/MONDO_0019067	idiopathic steroid-sensitive nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0018480	carcinoma of esophagus, salivary gland type	http://purl.obolibrary.org/obo/MONDO_0019086	carcinoma of esophagus		
http://purl.obolibrary.org/obo/MONDO_0018134	disorder of melanin metabolism	http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0019230	inborn disorder of ornithine or proline metabolism	http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0017352	disorder of glutamine metabolism	http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0017684	disorder of beta and omega amino acid metabolism	http://purl.obolibrary.org/obo/MONDO_0019189	inborn disorder of amino acid and other organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0020698	inborn error of biotin metabolism	http://purl.obolibrary.org/obo/MONDO_0020699	biotin metabolic disease		
http://purl.obolibrary.org/obo/MONDO_0800375	developmental delay, epilepsy, and neonatal diabetes 1	http://purl.obolibrary.org/obo/MONDO_0019207	DEND syndrome		
http://purl.obolibrary.org/obo/MONDO_0800376	developmental delay, epilepsy, and neonatal diabetes 2	http://purl.obolibrary.org/obo/MONDO_0019207	DEND syndrome		
http://purl.obolibrary.org/obo/MONDO_0014490	ketoacidosis due to monocarboxylate transporter-1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019223	disorder of fatty acid and ketone body metabolism		
http://purl.obolibrary.org/obo/MONDO_0017306	disorder of phenylalanine metabolism	http://purl.obolibrary.org/obo/MONDO_0045022	disorder of organic acid metabolism		
http://purl.obolibrary.org/obo/MONDO_0019219	inborn disorder of neurotransmitter metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0019250	inborn disorder of biogenic amine metabolism and transport		
http://purl.obolibrary.org/obo/MONDO_0019253	metabolic disease involving other neurotransmitter deficiency	http://purl.obolibrary.org/obo/MONDO_0019250	inborn disorder of biogenic amine metabolism and transport		
http://purl.obolibrary.org/obo/MONDO_0007859	palmoplantar keratoderma i, striate, focal, or diffuse	http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0017672	focal palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0968949	palmoplantar keratoderma, epidermolytic	http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0014327	palmoplantar keratoderma, nonepidermolytic, focal or diffuse	http://purl.obolibrary.org/obo/MONDO_0019272	hereditary palmoplantar keratoderma		
http://purl.obolibrary.org/obo/MONDO_0016617	rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0019432	rheumatoid factor-negative juvenile idiopathic arthritis		
http://purl.obolibrary.org/obo/MONDO_0016618	rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0019432	rheumatoid factor-negative juvenile idiopathic arthritis		
http://purl.obolibrary.org/obo/MONDO_0013592	nonsyndromic congenital nail disorder 9	http://purl.obolibrary.org/obo/MONDO_0019577	anonychia-onychodystrophy syndrome		
http://purl.obolibrary.org/obo/MONDO_0017825	silent pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0019613	non-functioning pituitary adenoma		
http://purl.obolibrary.org/obo/MONDO_0017826	null pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0019613	non-functioning pituitary adenoma		
http://purl.obolibrary.org/obo/MONDO_0019646	unilateral congenital megacalycosis	http://purl.obolibrary.org/obo/MONDO_0019639	congenital megacalycosis		
http://purl.obolibrary.org/obo/MONDO_0019647	congenital bilateral megacalycosis	http://purl.obolibrary.org/obo/MONDO_0019639	congenital megacalycosis		
http://purl.obolibrary.org/obo/MONDO_0017488	ulnar hemimelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0019670	ulnar hemimelia		
http://purl.obolibrary.org/obo/MONDO_0017489	ulnar hemimelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0019670	ulnar hemimelia		
http://purl.obolibrary.org/obo/MONDO_0017486	radial hemimelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0019671	radial hemimelia		
http://purl.obolibrary.org/obo/MONDO_0017487	radial hemimelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0019671	radial hemimelia		
http://purl.obolibrary.org/obo/MONDO_0017492	fibular hemimelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0019672	fibular hemimelia		
http://purl.obolibrary.org/obo/MONDO_0017493	fibular hemimelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0019672	fibular hemimelia		
http://purl.obolibrary.org/obo/MONDO_0017533	postaxial polydactyly type B, unilateral	http://purl.obolibrary.org/obo/MONDO_0019674	postaxial polydactyly type B		
http://purl.obolibrary.org/obo/MONDO_0017534	postaxial polydactyly type B, bilateral	http://purl.obolibrary.org/obo/MONDO_0019674	postaxial polydactyly type B		
http://purl.obolibrary.org/obo/MONDO_0017552	humero-ulnar synostosis, unilateral	http://purl.obolibrary.org/obo/MONDO_0019782	humero-ulnar synostosis		
http://purl.obolibrary.org/obo/MONDO_0017553	humero-ulnar synostosis, bilateral	http://purl.obolibrary.org/obo/MONDO_0019782	humero-ulnar synostosis		
http://purl.obolibrary.org/obo/MONDO_0850069	familial hyperinflammatory lymphoproliferative immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0020083	immunodeficiency-associated lymphoproliferative disease		
http://purl.obolibrary.org/obo/MONDO_0020379	early-onset zonular cataract	http://purl.obolibrary.org/obo/MONDO_0020377	early-onset partial cataract		
http://purl.obolibrary.org/obo/MONDO_0018610	early-onset posterior subcapsular cataract	http://purl.obolibrary.org/obo/MONDO_0020377	early-onset partial cataract		
http://purl.obolibrary.org/obo/MONDO_0016976	well-differentiated thymic neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0020516	thymic neuroendocrine carcinoma		
http://purl.obolibrary.org/obo/MONDO_0016977	moderately-differentiated thymic neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0020516	thymic neuroendocrine carcinoma		
http://purl.obolibrary.org/obo/MONDO_0016978	poorly differentiated thymic neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0020516	thymic neuroendocrine carcinoma		
http://purl.obolibrary.org/obo/MONDO_0017592	staphylococcal toxemia	http://purl.obolibrary.org/obo/MONDO_0024313	staphylococcal infection		
http://purl.obolibrary.org/obo/CL_0000210	photoreceptor cell	http://purl.obolibrary.org/obo/CL_0000101	sensory neuron		
http://purl.obolibrary.org/obo/CL_0000748	retinal bipolar neuron	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		
http://purl.obolibrary.org/obo/CL_0010011	cerebral cortex GABAergic interneuron	http://purl.obolibrary.org/obo/CL_0011005	GABAergic interneuron		
http://purl.obolibrary.org/obo/CL_1001569	hippocampal interneuron	http://purl.obolibrary.org/obo/CL_0002608	hippocampal neuron		
http://purl.obolibrary.org/obo/ENVO_01000952	anthropisation	http://purl.obolibrary.org/obo/ENVO_01001434	anthropogenic ecosystem conversion process		
http://purl.obolibrary.org/obo/ENVO_01000819	hydrosphere	http://purl.obolibrary.org/obo/ENVO_01001477	liquid astronomical body part		
http://purl.obolibrary.org/obo/ENVO_01001785	land	http://purl.obolibrary.org/obo/ENVO_01001311	solid surface layer		
http://purl.obolibrary.org/obo/ENVO_01001548	freezing	http://purl.obolibrary.org/obo/ENVO_01001510	material congelation process		
http://purl.obolibrary.org/obo/ENVO_01000724	condensation process	http://purl.obolibrary.org/obo/ENVO_01001510	material congelation process		
http://purl.obolibrary.org/obo/ENVO_01000726	desublimation process	http://purl.obolibrary.org/obo/ENVO_01001510	material congelation process		
http://purl.obolibrary.org/obo/ENVO_01001215	visible spectrum stellar radiation	http://purl.obolibrary.org/obo/ENVO_01001211	stellar radiation		
http://purl.obolibrary.org/obo/ENVO_01001216	ultraviolet stellar radiation	http://purl.obolibrary.org/obo/ENVO_01001211	stellar radiation		
http://purl.obolibrary.org/obo/GO_0032940	secretion by cell	http://purl.obolibrary.org/obo/GO_0046903	secretion		
http://purl.obolibrary.org/obo/GO_0140353	lipid export from cell	http://purl.obolibrary.org/obo/GO_0006869	lipid transport		
http://purl.obolibrary.org/obo/NCIT_C177683	Genetic Fusion Positive	http://purl.obolibrary.org/obo/NCIT_C103223	Genetic Finding		
http://purl.obolibrary.org/obo/NCIT_C131069	RET Fusion Positive	http://purl.obolibrary.org/obo/NCIT_C158948	Rearrangement Detected		
http://purl.obolibrary.org/obo/NCIT_C138156	TRK Receptor Family Fusion Positive	http://purl.obolibrary.org/obo/NCIT_C138155	TRK Receptor Family Alteration Positive		
http://purl.obolibrary.org/obo/HP_0012486	Myelitis	http://purl.obolibrary.org/obo/HP_0002143	Abnormal spinal cord morphology		
http://purl.obolibrary.org/obo/HP_0100653	Optic neuritis	http://purl.obolibrary.org/obo/HP_0000587	Abnormal optic nerve morphology		
http://purl.obolibrary.org/obo/MONDO_0010218	46,XX sex reversal 2	http://purl.obolibrary.org/obo/MONDO_0100249	46,XX testicular disorder of sex development		
http://purl.obolibrary.org/obo/MONDO_0010442	46,XX sex reversal 3	http://purl.obolibrary.org/obo/MONDO_0100249	46,XX testicular disorder of sex development		
http://purl.obolibrary.org/obo/HP_0008776	Abnormal renal artery morphology	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		
http://purl.obolibrary.org/obo/MONDO_0030374	WHIM syndrome 2	http://purl.obolibrary.org/obo/MONDO_0023880	WHIM syndrome		
http://purl.obolibrary.org/obo/MONDO_0030376	Martsolf syndrome 2	http://purl.obolibrary.org/obo/MONDO_0023910	Martsolf syndrome		
http://purl.obolibrary.org/obo/MONDO_0030399	visceral neuropathy, familial, 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0023961	visceral neuropathy, familial		
http://purl.obolibrary.org/obo/MONDO_0030375	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	http://purl.obolibrary.org/obo/MONDO_0024189	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		
http://purl.obolibrary.org/obo/MONDO_8000012	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	http://purl.obolibrary.org/obo/MONDO_0024189	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		
http://purl.obolibrary.org/obo/MONDO_0030397	portal hypertension, noncirrhotic, 2	http://purl.obolibrary.org/obo/MONDO_0024193	portal hypertension, noncirrhotic		
http://purl.obolibrary.org/obo/MONDO_8000013	portal hypertension, noncirrhotic, 1	http://purl.obolibrary.org/obo/MONDO_0024193	portal hypertension, noncirrhotic		
http://purl.obolibrary.org/obo/NCBITaxon_12475	Hepatitis delta virus	http://purl.obolibrary.org/obo/NCBITaxon_2844074	Deltavirus italiense		
http://purl.obolibrary.org/obo/MONDO_0100119	Knobloch syndrome 2	http://purl.obolibrary.org/obo/MONDO_0800166	Knobloch syndrome		
http://purl.obolibrary.org/obo/MONDO_0800167	Knobloch syndrome 1	http://purl.obolibrary.org/obo/MONDO_0800166	Knobloch syndrome		
http://purl.obolibrary.org/obo/MONDO_1011659	gastric dilatation volvulus syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011661	esophageal motility disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011662	stomach ulcer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011363	ulcer disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011663	displaced abomasum, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011664	gluten-sensitive enteropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011665	anal furunculosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011666	non-specific digestive disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011667	Lundehund syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011775	idiopathic hepatic fibrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011776	inborn error of hepatic metabolism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011777	portosystemic hepatic encephalopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011778	chronic active hepatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011779	neonatal hepatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011780	gallbladder mucocele, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011781	congential hepatic fibrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011782	hepatocellular fibrinogen storage disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770385	cloaca, cattle	http://purl.obolibrary.org/obo/MONDO_1011311	digestive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700105	difference of sexual differentiation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011673	spontaneous autoimmune thyroiditis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011674	hyperosmolar nonketotic diabetes mellitus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011675	hypoadrenocorticism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011676	primary hypoadrenocorticism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011677	congenital hypoplasia of mammary gland, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011678	primary hypothyroidism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011679	hereditary pancreatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011680	postpartum dysgalactia syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011681	ACTH-independent adrenal Cushing syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011682	anal gland disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770196	mammary gland abnormality, sheep	http://purl.obolibrary.org/obo/MONDO_1011317	endocrine system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700102	lymphoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700100	leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011684	alloimmune hemolytic anemia of the newborn, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011685	bleeding disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011686	contact activation defect, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011687	cyclic neutropenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011688	congenital dyserythropoietic anemia with dyskeratosis and progressive alopecia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011689	hemolytic anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011690	primary autoimmune hemolytic anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011691	platelet function defect, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011692	protein C deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011694	thrombasthenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011695	thrombopathia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011696	stomatocytosis and gastrits, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011697	hemophagocytic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011699	reduced glutathione deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011700	trapped neutrophil syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011701	combined deficiency of factors IX and XII, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011702	neonatal pancytopenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011703	selective ADP deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011704	exercise-induced pulmonary hemorrhage, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011705	combined deficiency of factors VIII, IX, and X, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011706	atypical thrombasthenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011707	congenital dyserythropoietic anemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011708	dyserythropoietic anemia and myopathy syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770098	macrothrombocytopenia, dog	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770174	delayed postoperative hemorrhage, dog	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770486	glucose-6-phosphate dehydrogenase deficiency, dog	http://purl.obolibrary.org/obo/MONDO_1011319	hematologic disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700110	pneumonia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013398	respiratory tract infectious disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012424	llama syndrome chondrodysplasia, sheep	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011653	craniomandibular osteopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011765	micromelia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011766	warts between hooves, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011767	laminitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011768	bone spavin, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011769	dysplasia epiphysealis hememelica, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011770	necrosis of digits, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011771	medial coronoid disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011772	hoof wall separation syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011773	degenerative suspensory ligament desmitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011774	digital dermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011787	degenerative myopathy of deep pectoral muscle, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011788	degenerative myopathy of obturator-externus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011789	fibrodysplasia ossificans, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011790	dysphagia-associated muscular dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011791	mitochondrial myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011792	subacute progressive myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011793	progressive myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011794	spastic lameness, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011795	masticatory muscle myositis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011796	high-frequency tremor, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011797	myopathy of the diaphragmatic muscles, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011798	forelimb-girdle muscular anomaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011799	inherited periodic spasticity, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011800	contractural arachnodactyly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011801	type 2 polysaccharide storage myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011802	congenital merosin-deficient muscular dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011803	muscular dystrophy-dystroglycanopathy (limb-girdle), non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011804	congenital myopathy with fiber-type disproportion, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011805	exercise induced metabolic myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011806	immune-mediated myositis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011807	atypical myopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011936	arthritis deformans, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011937	type-II collagen-immune complex arthritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011938	arthrogryposis and palatoschisis syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011939	brachygnathia superior and degenerative joint disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011940	ocular-skeletal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011941	Ancon dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011942	autosomal dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011943	pituitary dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011944	multiple exostoses, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011945	hypothyroidism and dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011946	congenital joint laxity and dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011947	muscle contracture and chondrodysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011948	navicular disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011949	occipital dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011950	osteochondroma causing progressive posterior paresis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011951	osteodystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011952	polyarthritis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011953	spinal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011954	tibial dyschondroplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011955	spondylosis deformans, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011956	growth-hormone-receptor deficiency dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011957	hypochondroplastic dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011958	Laron dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011959	growth-hormone deficiency dwarfism,, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011960	rupture of the cranial cruciate ligament, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011961	brachygnathia, cardiomegaly and renal hypoplasia syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011962	vitamin D-deficiency rickets, non-type I, non-type II, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011963	proportionate dwarfism with inflammatory lesions, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011964	idiopathic congenital chondrodystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011965	disproportionate short-limbed chondrodysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011966	skeletal dysplasia with craniofacial deformity and disproportionate dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011967	vertebral and spinal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011968	lethal arthrogryposis syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011969	Dahlem dwarfism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011970	asymmetrical occipital condylar dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011971	caudal cruciate ligament disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011972	osteochondromatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011973	pyknodysostosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770193	caudal articular process dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770199	heterotopic ossification, gray parrot	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770234	complex vertebral malformation, elk	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770237	spondyloocular syndrome, medaka	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770249	patellar fracture and dental anomaly syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770251	brachygnathia, giraffe	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770258	sacral agenesis, dog	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770306	brachygnathia, pig	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770365	equine odontoclastic tooth resorption and hypercementosis, horse	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770366	feline odontoclastic resorptive lesion, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770374	muscular hypertrophy (double muscling), yellow catfish	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770376	dental abnormalities, fox	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770381	cervicothoracic vertebral malformation, horse	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770400	complex vertebral malformation, dog	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770405	brachygnathia superior, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770406	dental abnormalities, horse	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770431	shoulder luxation, alpaca	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770432	dental abnormalities, dog	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770434	leg weakness, mallard	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770460	vertebral anomalies, dog	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770488	brachygnathia, white-tailed deer	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770489	brachygnathia superior, white-tailed deer	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770490	polysaccharide storage myopathy, mule	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770510	fibroblast growth factor 10 deficiency, Iberian ribbed newt	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770518	leg weakness, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770531	vertebral anomalies, horse	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770533	osteochondrodysplastic and cardiomyopathic syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770548	skeletal deformity, Atlantic salmon	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770603	skeletal abnormality, silver carp	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770621	dental abnormalities, sheep	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770631	dental abnormalities, guinea pig	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770701	craniofacial dysplasia-hydrocephalus-dwarfism syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770705	dyplasias with multiple joint dislocations, cattle	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770713	quantitative variation vertebrae, medaka	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770736	lower limb hyperextension, goat	http://purl.obolibrary.org/obo/MONDO_1011335	musculoskeletal system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012522	turning calves syndrome, SLC25A46-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011626	hyperkinesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011627	myoclonus epilepsy of Lafora, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011628	paroxysm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011629	quaking, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011630	congenital lethal spasms, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011631	stringhalt, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011632	tetanic torticollar spasms, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011633	progressive ataxia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011634	self-mutilation syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011635	familial convulsions and ataxia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011636	compulsive disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011637	juvenile idiopathic epilepsy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011638	attention deficit hyperactivity disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011639	generalized myoclonic epilepsy with photosensitivity, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011829	progressive ataxia with degenerative thoracic myelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011830	audiogenic seizure, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011831	distal axonopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011832	peripheral axonopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011833	cerebellar Purkinje cell degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011834	cerebellar abiotrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011835	congenital cerebellar anomaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011836	cerebellar cortical atrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011837	cerebellar disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011838	congenital copper deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011839	degenerative myelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011840	delta 9-tetrahydrocannabinol seizure, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011841	faded shaker, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011842	granule cell type cerebellar hypoplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011843	internal hydrocephalus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011844	hypertrophic neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011845	congenital hypomyelinogenesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011846	hypothalamic dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011847	hypotrophic axonopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011848	lower motor neuron disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011849	myasthenia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011850	necrotising myelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011851	congenital neuromuscular disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011852	neurogenic muscular atrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011853	neurological syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011854	thalamic-cerebellar neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011855	distal sensorimotor polyneuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011856	progressive axonopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011857	progressive cerebellar abiotrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011858	progressive spinal myelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011859	spastic paresis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011860	spastic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011861	tremor, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011862	tremor syndrome with central axonopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011863	subacute necrotising encephalopathy of Leigh, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011864	polymicrogyria and asymmetrical ventricular dilation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011865	axonopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011866	degenerative myeloencephalopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011867	neuronal abiotrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011868	motor neuron disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011869	spinal dysmyelination, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011870	polioencephalomyelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011871	progressive neuronopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011872	polyneuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011873	neuronal vacuolar disorder, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011874	degenerative neuromuscular disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011875	progressive ataxia with head tremor and seizures, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011876	unilateral subcortical heterotopia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011877	exercise-induced collapse, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011878	sensory ataxic neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011879	necrotizing meningoencephalitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011880	neonatal encephalopathy with seizures, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011881	tomaculous neuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011882	segmental axonopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011883	dilute coat color with neurological defects, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011884	acral mutilation syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011885	episodic falling, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011886	neuroaxonal dystrophy with cerebellar abiotrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011887	retinal dysplasia and internal hydrocephalus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011888	congenital hydranencephaly and cerebellar hypoplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011889	familial episodic spinocerebellar ataxia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011890	leukoencephalomyelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011891	cervical vertebral compressive myelopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011892	spinal intradural arachnoid cyst, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011894	degenerative encephalopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011895	Guillain-Barr-like polyradiculoneuropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011897	cavitating leukodystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011898	hypomyelinating leukodystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011899	olivopontocerebellar degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011926	shivers, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770028	spongiform myelopathy, cattle	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770167	fragile X syndrome, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770183	Rett syndrome, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770185	thoracolumbar myelopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770202	macrocephaly, macaque	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770241	ataxia, middle-African hedgehog	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770263	frontotemporal dementia and/or amyotrophic lateral sclerosis 1, macaque	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770319	lissencephaly, dog	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770320	lissencephaly, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770321	lissencephaly, cattle	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770322	lissencephaly, goat	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770413	NPY2R-related nervous system disorder, medaka	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770451	clumped feathers, high-stress reactivity, and tameness, Australian zebra finch	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770455	muscle hypertrophy, dysphagia, and gait abnormalities, dog	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770485	hereditary myelopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770496	MIR137-related neurodevelopmental disorder, pig	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770506	corpus callosum hypoplasia / dysplasia, coyote	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770523	lissencephaly, ferret	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770527	ataxia, lion	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770550	episodic ataxia, dog	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770612	adrenoleukodystrophy, rabbit	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770632	hypothalamic hamartoma, dog	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770636	corpus callosum hypoplasia / dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011336	nervous system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011709	ear necrosis syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011301	auditory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011710	bilateral deafness and vestibular dysfunction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011301	auditory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011711	unilateral deafness and vestibular dysfunction, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011301	auditory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770293	external auditory canal atresia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011301	auditory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770294	external auditory canal atresia, dog	http://purl.obolibrary.org/obo/MONDO_1011301	auditory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770058	macrostomus, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770233	craniofacial deformities, Nile tilapia	http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770252	wry nose, giraffe	http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770253	midfacial cleft, giraffe	http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770387	brachycephaly, cattle	http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770458	brachycephaly, brown trout	http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770733	brachycephaly, sheep	http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770746	macrostomus, rabbit	http://purl.obolibrary.org/obo/MONDO_1011302	branchial arch disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011808	Hodgkin disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011809	multiple lipomatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011810	megakaryoblastic leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011811	congenital melanoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011812	ocular squamous cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011813	sarcoid, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011814	melanoblastoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011815	renal cystadenocarcinoma and nodular dermatofibrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011816	lymphoproliferative disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011817	anal sac gland carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011818	invasive transitional cell carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011819	chronic myelogenous leukemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011820	colorectal hamartomatous polyposis and ganglioneuromatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011821	malignant melanoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011822	squamous cell carcinoma of the digit, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011823	hemangiosarcoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011824	horn cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011825	choroid plexus tumour, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011826	dysplastic gangliocytoma of the cerebellum, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011827	congenital mast cell tumor, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011901	white skin color and iridophoroma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770215	RAD50 double-stranded break point repair protein deficiency, medaka	http://purl.obolibrary.org/obo/MONDO_1011305	cancer or benign tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011640	atrial septal defect and atrial fibrillation, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011641	cardiomyopathy and woolly haircoat syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011642	spontaneous cardiomyopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011643	mitral valve disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011644	persistent right aortic arch, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011645	ventricular arrhythmias and sudden death, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011646	persistent truncus arteriosus with ventricular septal defect and patent foramen ovale, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011647	chronic valvular disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011648	familial thoracic aortic aneurysm, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011649	persistent right aortic arch with subclavian artery and ligamentum arteriosum, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011650	pentalogy of Fallot, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011651	cardiomyopathy and juvenile mortality, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011652	mitral valve dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770163	arrhythmogenic left ventricular cardiomyopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770269	thoracoabdominal syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770295	cardiac defects, medaka	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770370	vena cava defect, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770371	vena cava defect, dog	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770390	omphallorhagia, cattle	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770422	heart defect with mitral regurgitation, saddlebill stork	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770601	patched1-related cardiovascular disorder, Nile tilapia	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770722	congenital portal vein hypoplasia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011306	cardiovascular disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770201	chromosomal abnormality, pig	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770272	chromosomal abnormality, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770273	chromosomal abnormality, dog	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770420	chromosomal abnormality, horse	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770491	chromosomal abnormality, donkey	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770537	chromosomal abnormality, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770538	chromosomal abnormality, common quail	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770539	chromosomal abnormality, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770540	chromosomal abnormality, chukar partridge	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770541	chromosomal abnormality, houbara bustard	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770542	chromosomal abnormality, Barbary partridge	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770657	duplication chromosomal structural anomaly, cattle	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770658	duplication chromosomal structural anomaly, horse	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770659	translocation chromosomal structural anomaly, water buffalo	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770660	translocation chromosomal structural anomaly, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770661	translocation chromosomal structural anomaly, dog	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770662	translocation chromosomal structural anomaly, pig	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770663	translocation chromosomal structural anomaly, pink salmon	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770664	translocation chromosomal structural anomaly, sheep	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770665	chromosomal structural anomaly, translocation, centric fusion, goat	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770666	chromosomal structural anomaly, translocation, centric fusion, sheep	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770667	chromosomal structural anomaly, translocation, centric fusion, pig	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770668	chromosomal structural anomaly, translocation, centric fusion, dog	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770669	chromosomal structural anomaly, translocation, centric fusion, Arabian oryx	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770670	chromosomal structural anomaly, translocation, centric fusion, dingo	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770671	chromosomal structural anomaly, translocation, centric fusion, American beaver	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770672	chromosomal structural anomaly, translocation, centric fusion, raccoon dog	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770673	chromosomal structural anomaly, translocation, centric fusion, rock goby	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770674	chromosomal structural anomaly, translocation, centric fusion, rabbit	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770675	chromosomal structural anomaly, translocation, centric fusion, Eurasian beaver	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770676	chromosomal structural anomaly, translocation, centric fusion, Atlantic cod	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770677	chromosomal structural anomaly, translocation, centric fusion, European plaice	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770678	chromosomal structural anomaly, translocation, centric fusion, pink salmon	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770679	chromosomal structural anomaly, translocation, centric fusion, common shrew	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770680	chromosomal structural anomaly, translocation, centric fusion, brown trout	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770682	tetraploidy polyploidy, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770709	chromosomal abnormality, isochromosome, sex chromosome, cattle	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770723	chromosomal structural anomaly, translocation, centric fusion, horse	http://purl.obolibrary.org/obo/MONDO_1011307	chromosomal disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011668	perosomus elumbis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011669	spina bifida with myelomeningocele, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011670	spina bifida with raduschisis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011671	spinal dysraphism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770211	adactyly, rhesus macaque	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770218	claw/hoof disorders, goat	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770304	amelia, horse	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770305	adactyly, pig	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770311	leg defects, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770312	claw/hoof disorders, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770327	leg defects, sheep	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770386	amorphus globosus, cattle	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770388	amelia, cattle	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770389	shoulder and hip luxation, cattle	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770391	amorphus globosus, goat	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770392	amorphus globosus, horse	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770398	claw/hoof disorders, horse	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770407	amelia, dog	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770462	leg defects, horse	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770483	tail abnormalities, cattle	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770619	hernia, koala	http://purl.obolibrary.org/obo/MONDO_1011313	disorder of development or morphogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770314	eye defects, black-footed ferret	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770409	caruncular trichiasis, dog	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770473	nasolacrimal duct obstruction, alpaca	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770474	nasolacrimal duct obstruction, llama	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770475	nasolacrimal duct obstruction, dog	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770476	nasolacrimal duct obstruction, horse	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770477	nasolacrimal duct obstruction, cattle	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770478	nasolacrimal duct obstruction, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770643	lens luxation, Huon tree kangaroo	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770651	eye defects, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770724	miosis, dog	http://purl.obolibrary.org/obo/MONDO_1011316	disorder of visual system, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011925	primary ciliary dyskinesia, non-human animal	http://purl.obolibrary.org/obo/MONDO_7770017	disease by molecular mechanism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770106	haplotype with homozygous deficiency NH8, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770300	mummified fetus, pig	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770383	haplotype with homozygous deficiency HH1, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770384	haplotype with homozygous deficiency JH1, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770446	embryonic lethality, cattle	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770470	haplotype with homozygous deficiency, MTRDHH2 to 5, sheep	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770526	haplotype with homozygous deficiency, SEL05, SEL07, SEL18, sheep	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770741	monorchidism, dog	http://purl.obolibrary.org/obo/MONDO_1011321	hereditary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011733	atopy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011734	black hair follicular dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011735	dermal allergy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011736	dermatosis vegetans, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011737	dystrophic epidermolysis bullosa, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011738	focal metatarsal fistula, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011739	congenital hypotrichosis with thymic aplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011740	primary seborrhea-oleosa, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011741	cutaneous papillomatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011742	congenital erythropoietic porphyria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011743	nodular dermatofibrosis and kidney disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011744	cutaneous and renal vasculopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011745	comedo syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011746	facial eczema, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011747	recessive hypotrichosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011748	urticaria pigmentosa, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011749	linear IgA disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011750	follicular dysplasia and interface dermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011751	acrochordonous plaque, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011752	nasal parakeratosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011753	juvenile with age-dependent emphysema hypotrichosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011754	reactive perforating collagenosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011755	sebaceous adenitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011756	exfoliative cutaneous lupus erythematosus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011757	sebaceous gland dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011758	zinc deficiency-like syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011759	hypotrichosis with short life expectancy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011760	symmetrical onychomadesis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011761	naked foal syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011762	verrucous epidermal keratinocytic nevi, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011763	lethal acrodermatitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770072	pink eye, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770104	ectodermal dysplasia, pig	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770105	ectodermal dysplasia, rabbit	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770116	albinism coat color, red-necked wallaby	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770169	albinism skin color, goldfish	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770187	inflammation and necrosis syndrome, pig	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770195	ectopic paw pads, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770245	nasal dermal arteritis, dog	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770310	crest, mallard	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770611	neutrophilic dermatosis, dog	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770649	depigmentation syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770654	pinching-off syndrome, white-tailed eagle	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770712	albinism coat color, New Zealand fur seal	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770745	excessive skin folds, sheep	http://purl.obolibrary.org/obo/MONDO_1011328	integumentary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011712	alloxan-diabetes, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011713	malignant hyperthermia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011714	hypocatalasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011715	pseudocholinesterase deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011716	hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011717	pulmonary hypoplasia with anasarca, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011718	Kurosawa and Kusanagi hypercholesterolaemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011719	intestinal cobalamin (vitamin B12) malabsorption, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011720	subclinical hypocalcemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011721	subclinical hypomagnesemia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011722	cytochrome B-related exercise intolerance, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011723	mitochondrial fission encephalopathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011783	alpha fucosidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770031	ascites, cockatiel	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770194	circadian disruption, macaque	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770284	fatty metamorphosis of viscera, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770362	lipid storage disease, superb bird-of-paradise	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770441	hyperuricemia, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_7770543	polyglucosan storage disease, black-headed parrot	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770579	fatty metamorphosis of viscera, rabbit	http://purl.obolibrary.org/obo/MONDO_1011331	metabolic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700103	nutritional deficiency disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011338	nutritional disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770396	diclofenac toxicity	http://purl.obolibrary.org/obo/MONDO_1011345	poisoning, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011784	premature senesence, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011350	premature aging syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011918	tetragametic chimerism, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011919	androgen insensitivity syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011920	yellow-semen syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011921	pyometra, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011922	retained placenta, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770051	short tail sperm, pig	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770175	asthenoteratozoospermia, macaque	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770176	asthenoteratozoospermia, northern tree shrew	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770190	infertility, dzo	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770214	sterile, pig	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770242	infertility, dog	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770292	cystic ovary, medaka	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770296	transmission ratio distortion, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770297	transmission ratio distortion, horse	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770298	transmission ratio distortion, cattle	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770308	infertility, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770358	short tail sperm, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770377	fetal death, pig	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770399	sterile, cattle	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770421	DND1-related reproductive disorder, striped catfish	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770529	cystic ovary, guinea pig	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770549	fetal death, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770553	persistent frenulum praeputii, cheetah	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770605	gamatogenic failure, medaka	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770607	ovulatory failure, Atlantic salmon	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770633	sterile, male, sheep	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770650	infertility, macaque	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770702	cystic ovary, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770703	cystic ovary, dog	http://purl.obolibrary.org/obo/MONDO_1011354	reproductive system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011654	facial digital syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011655	polled and multisystemic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011656	facial dysplasia syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011657	goldenhar syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011658	calvarial hyperostotic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011683	caprine-like generalized hypoplasia syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011785	lethal multi-organ developmental dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011786	perinatal weak calf syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011900	hypopigmentation and deafness, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011902	neuropathy and feather color dilution, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770554	peracute mortality syndrome, red panda	http://purl.obolibrary.org/obo/MONDO_1011360	syndromic disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011660	megaesophagus, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011364	upper digestive tract disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011906	hemolytic uremic syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011910	renal dysplasia and bladder aplasia-hypoplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011915	diffuse cystic renal dysplasia and hepatic fibrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011916	Meckel-like hepatorenal fibrocystic dysplasia syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011917	idiopathic hypercalciuria, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770207	ureter abnormality, dog	http://purl.obolibrary.org/obo/MONDO_1011365	urinary system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011974	aniridia with cataract, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011975	congenital blindness, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011976	Collie eye anomaly, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011978	central retinal degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011979	retinal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011980	retinal dystrophy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011981	rod-cone degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011982	rod-cone dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011983	tapetal degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011984	retinal and skeletal dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012973	skeletal dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011985	early retinal degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011987	photoreceptor dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011988	retinal dysplasia and degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011989	blindness with enlarged globe, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011990	retinal dysplasia and persistent primary vitreous, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011991	rod dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011992	congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011993	lacrimal fistula, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011994	fluoroquinolone-induced retinal degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011995	gyrate atrophy of choroid and retina, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011996	ocular melanosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011997	recurrent uveitis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011998	primary open angle glaucoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011999	pectinate ligament dysplasia, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012000	sudden acquired retinal degeneration syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012001	bilateral corneal stromal loss, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012002	vitreous degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012003	corneal sequestra, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012004	osseous choristoma of the ciliary body, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011367	vision disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0958137	early-onset autoimmune disorder due to DOCK11 partial deficiency	http://purl.obolibrary.org/obo/MONDO_0957494	autoinflammatory disease, multisystem, with immune dysregulation, X-linked		
http://purl.obolibrary.org/obo/MONDO_0958138	early-onset immune dysregulation due to DOCK11 complete deficiency	http://purl.obolibrary.org/obo/MONDO_0957494	autoinflammatory disease, multisystem, with immune dysregulation, X-linked		
http://purl.obolibrary.org/obo/MONDO_1012296	imperforate hymen, horse	http://purl.obolibrary.org/obo/MONDO_1010279	hymen, imperforate, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012297	imperforate hymen, cattle	http://purl.obolibrary.org/obo/MONDO_1010279	hymen, imperforate, non-human animal		
http://purl.obolibrary.org/obo/HP_0005620	Hypermobility of interphalangeal joints	http://purl.obolibrary.org/obo/HP_0430046	Small joint hypermobilty		
http://purl.obolibrary.org/obo/HP_0006094	Finger joint hypermobility	http://purl.obolibrary.org/obo/HP_0006256	Abnormality of hand joint mobility		
http://purl.obolibrary.org/obo/HP_0000176	Submucous cleft hard palate	http://purl.obolibrary.org/obo/HP_0410005	Cleft hard palate		
http://purl.obolibrary.org/obo/HP_0011819	Submucous cleft soft palate	http://purl.obolibrary.org/obo/HP_0000185	Cleft soft palate		
http://purl.obolibrary.org/obo/HP_0410031	Submucous cleft of soft and hard palate	http://purl.obolibrary.org/obo/HP_0410005	Cleft hard palate		
http://purl.obolibrary.org/obo/NCBITaxon_3243772	Dipodascales	http://purl.obolibrary.org/obo/NCBITaxon_3239873	Dipodascomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_34353	Dipodascaceae	http://purl.obolibrary.org/obo/NCBITaxon_3243772	Dipodascales		
http://purl.obolibrary.org/obo/CL_0000059	ameloblast	http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000150	glandular secretory epithelial cell	http://purl.obolibrary.org/obo/CL_1100001	secretory epithelial cell		
http://purl.obolibrary.org/obo/CL_0000160	goblet cell	http://purl.obolibrary.org/obo/CL_0000319	mucus secreting cell		
http://purl.obolibrary.org/obo/CL_0000164	enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0000163	endocrine cell		
http://purl.obolibrary.org/obo/CL_0000165	neuroendocrine cell	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000216	Sertoli cell	http://purl.obolibrary.org/obo/CL_0002625	seminiferous tubule epithelial cell		
http://purl.obolibrary.org/obo/CL_0000242	Merkel cell	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002180	mucous cell of stomach	http://purl.obolibrary.org/obo/CL_0002178	epithelial cell of stomach		
http://purl.obolibrary.org/obo/CL_1001590	epididymis secretory cell	http://purl.obolibrary.org/obo/CL_0000068	duct epithelial cell		
http://purl.obolibrary.org/obo/CL_1001591	oviduct secretory cell	http://purl.obolibrary.org/obo/CL_1100001	secretory epithelial cell		
http://purl.obolibrary.org/obo/CL_1001598	small intestine secretory cell	http://purl.obolibrary.org/obo/CL_0002254	epithelial cell of small intestine		
http://purl.obolibrary.org/obo/CL_0008055	respiratory tract secretory epithelial cell	http://purl.obolibrary.org/obo/CL_0002368	respiratory tract epithelial cell		
http://purl.obolibrary.org/obo/CL_2000027	cerebellar basket cell	http://purl.obolibrary.org/obo/CL_0000118	basket cell		
http://purl.obolibrary.org/obo/CL_1000306	fibroblast of tunica adventitia of artery	http://purl.obolibrary.org/obo/CL_4052030	adventitial fibroblast		
http://purl.obolibrary.org/obo/FOODON_00005680	bovid material	http://purl.obolibrary.org/obo/FOODON_00005501	mammal material		
http://purl.obolibrary.org/obo/FOODON_00005683	aquatic invertebrate material	http://purl.obolibrary.org/obo/FOODON_00005522	invertebrate material		
http://purl.obolibrary.org/obo/FOODON_00001176	invertebrate food product	http://purl.obolibrary.org/obo/FOODON_00004242	animal food product		
http://purl.obolibrary.org/obo/FOODON_00005708	decapod material	http://purl.obolibrary.org/obo/FOODON_00005704	crustacean material		
http://purl.obolibrary.org/obo/FOODON_00001792	crustacean food product	http://purl.obolibrary.org/obo/FOODON_00001293	shellfish food product		
http://purl.obolibrary.org/obo/FOODON_00005704	crustacean material	http://purl.obolibrary.org/obo/FOODON_00005683	aquatic invertebrate material		
http://purl.obolibrary.org/obo/FOODON_00005703	echinoderm material	http://purl.obolibrary.org/obo/FOODON_00005683	aquatic invertebrate material		
http://purl.obolibrary.org/obo/FOODON_00003318	echinoderm food product	http://purl.obolibrary.org/obo/FOODON_00001293	shellfish food product		
http://purl.obolibrary.org/obo/CL_0002059	CD8-alpha-positive thymic conventional dendritic cell	http://purl.obolibrary.org/obo/CL_0000941	thymic conventional dendritic cell		
http://purl.obolibrary.org/obo/CL_0002460	CD8-alpha-negative thymic conventional dendritic cell	http://purl.obolibrary.org/obo/CL_0000941	thymic conventional dendritic cell		
http://purl.obolibrary.org/obo/HP_0000005	Mode of inheritance	http://purl.obolibrary.org/obo/HP_0000001	All		
http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality	http://purl.obolibrary.org/obo/HP_0000001	All		
http://purl.obolibrary.org/obo/HP_0012823	Clinical modifier	http://purl.obolibrary.org/obo/HP_0000001	All		
http://purl.obolibrary.org/obo/HP_0000098	Tall stature	http://purl.obolibrary.org/obo/HP_0000002	Abnormality of body height		
http://purl.obolibrary.org/obo/HP_0004322	Short stature	http://purl.obolibrary.org/obo/HP_0001510	Growth delay		
http://purl.obolibrary.org/obo/HP_0000130	Abnormality of the uterus	http://purl.obolibrary.org/obo/HP_0000008	Abnormal morphology of female internal genitalia		
http://purl.obolibrary.org/obo/HP_0000137	Abnormality of the ovary	http://purl.obolibrary.org/obo/HP_0000008	Abnormal morphology of female internal genitalia		
http://purl.obolibrary.org/obo/HP_0000142	Abnormal vagina morphology	http://purl.obolibrary.org/obo/HP_0000008	Abnormal morphology of female internal genitalia		
http://purl.obolibrary.org/obo/HP_0011027	Abnormal fallopian tube morphology	http://purl.obolibrary.org/obo/HP_0000008	Abnormal morphology of female internal genitalia		
http://purl.obolibrary.org/obo/HP_0000011	Neurogenic bladder	http://purl.obolibrary.org/obo/HP_0000009	Functional abnormality of the bladder		
http://purl.obolibrary.org/obo/HP_0000009	Functional abnormality of the bladder	http://purl.obolibrary.org/obo/HP_0000014	Abnormality of the bladder		
http://purl.obolibrary.org/obo/HP_0008775	Abnormal prostate morphology	http://purl.obolibrary.org/obo/HP_0000022	Abnormal male internal genitalia morphology		
http://purl.obolibrary.org/obo/HP_0009714	Abnormal epididymis morphology	http://purl.obolibrary.org/obo/HP_0000022	Abnormal male internal genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000026	Male hypogonadism	http://purl.obolibrary.org/obo/HP_0000135	Hypogonadism		
http://purl.obolibrary.org/obo/HP_0008669	Abnormal spermatogenesis	http://purl.obolibrary.org/obo/HP_0000025	Functional abnormality of male internal genitalia		
http://purl.obolibrary.org/obo/HP_0011961	Non-obstructive azoospermia	http://purl.obolibrary.org/obo/HP_0000027	Azoospermia		
http://purl.obolibrary.org/obo/HP_0011962	Obstructive azoospermia	http://purl.obolibrary.org/obo/HP_0000027	Azoospermia		
http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology	http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000037	Male pseudohermaphroditism	http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000050	Hypoplastic male external genitalia	http://purl.obolibrary.org/obo/HP_0003241	External genital hypoplasia		
http://purl.obolibrary.org/obo/HP_0000028	Cryptorchidism	http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology		
http://purl.obolibrary.org/obo/HP_0000029	Testicular atrophy	http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology		
http://purl.obolibrary.org/obo/HP_0010470	Supernumerary testes	http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology		
http://purl.obolibrary.org/obo/HP_0010789	Abnormality of the Leydig cells	http://purl.obolibrary.org/obo/HP_0000035	Abnormal testis morphology		
http://purl.obolibrary.org/obo/HP_0008736	Hypoplasia of penis	http://purl.obolibrary.org/obo/HP_0000050	Hypoplastic male external genitalia		
http://purl.obolibrary.org/obo/HP_0030261	Absent penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0030262	Narrow penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0030264	Webbed penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0030265	Wide penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0032076	Abnormal male urethral meatus morphology	http://purl.obolibrary.org/obo/HP_0000036	Abnormal penis morphology		
http://purl.obolibrary.org/obo/HP_0000046	Small scrotum	http://purl.obolibrary.org/obo/HP_0000050	Hypoplastic male external genitalia		
http://purl.obolibrary.org/obo/HP_0000048	Bifid scrotum	http://purl.obolibrary.org/obo/HP_0000045	Abnormal scrotum morphology		
http://purl.obolibrary.org/obo/HP_0003244	Penile hypospadias	http://purl.obolibrary.org/obo/HP_0000047	Hypospadias		
http://purl.obolibrary.org/obo/HP_0008734	Decreased testicular size	http://purl.obolibrary.org/obo/HP_0010468	Aplasia/Hypoplasia of the testes		
http://purl.obolibrary.org/obo/HP_0000056	Abnormal clitoris morphology	http://purl.obolibrary.org/obo/HP_0000055	Abnormal female external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000058	Abnormal labia morphology	http://purl.obolibrary.org/obo/HP_0000055	Abnormal female external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000067	Urethral atresia, female	http://purl.obolibrary.org/obo/HP_0000068	Urethral atresia		
http://purl.obolibrary.org/obo/HP_0012815	Hypoplastic female external genitalia	http://purl.obolibrary.org/obo/HP_0003241	External genital hypoplasia		
http://purl.obolibrary.org/obo/HP_0040255	Aplasia/Hypoplasia of the clitoris	http://purl.obolibrary.org/obo/HP_0000056	Abnormal clitoris morphology		
http://purl.obolibrary.org/obo/HP_0040252	Abnormal size of the clitoris	http://purl.obolibrary.org/obo/HP_0000056	Abnormal clitoris morphology		
http://purl.obolibrary.org/obo/HP_0000065	Labial hypertrophy	http://purl.obolibrary.org/obo/HP_0000058	Abnormal labia morphology		
http://purl.obolibrary.org/obo/HP_0000066	Labial hypoplasia	http://purl.obolibrary.org/obo/HP_0012815	Hypoplastic female external genitalia		
http://purl.obolibrary.org/obo/HP_0012880	Abnormal labia minora morphology	http://purl.obolibrary.org/obo/HP_0000058	Abnormal labia morphology		
http://purl.obolibrary.org/obo/HP_0012881	Abnormal labia majora morphology	http://purl.obolibrary.org/obo/HP_0000058	Abnormal labia morphology		
http://purl.obolibrary.org/obo/HP_0008683	Enlarged labia minora	http://purl.obolibrary.org/obo/HP_0012880	Abnormal labia minora morphology		
http://purl.obolibrary.org/obo/HP_0000059	Hypoplastic labia majora	http://purl.obolibrary.org/obo/HP_0012881	Abnormal labia majora morphology		
http://purl.obolibrary.org/obo/HP_0000064	Hypoplastic labia minora	http://purl.obolibrary.org/obo/HP_0012880	Abnormal labia minora morphology		
http://purl.obolibrary.org/obo/HP_0000052	Urethral atresia, male	http://purl.obolibrary.org/obo/HP_0000068	Urethral atresia		
http://purl.obolibrary.org/obo/HP_0000074	Ureteropelvic junction obstruction	http://purl.obolibrary.org/obo/HP_0000071	Ureteral stenosis		
http://purl.obolibrary.org/obo/HP_0008714	Ureterovesical stenosis	http://purl.obolibrary.org/obo/HP_0000071	Ureteral stenosis		
http://purl.obolibrary.org/obo/HP_0030037	Bifid ureter	http://purl.obolibrary.org/obo/HP_0000073	Ureteral duplication		
http://purl.obolibrary.org/obo/HP_0005580	Duplication of renal pelvis	http://purl.obolibrary.org/obo/HP_0010944	Abnormal renal pelvis morphology		
http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology	http://purl.obolibrary.org/obo/HP_0000077	Abnormality of the kidney		
http://purl.obolibrary.org/obo/HP_0012211	Abnormal renal physiology	http://purl.obolibrary.org/obo/HP_0011277	Abnormality of the urinary system physiology		
http://purl.obolibrary.org/obo/HP_0000080	Abnormality of reproductive system physiology	http://purl.obolibrary.org/obo/HP_0000078	Abnormality of the genital system		
http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology	http://purl.obolibrary.org/obo/HP_0000078	Abnormality of the genital system		
http://purl.obolibrary.org/obo/HP_0000809	Urinary tract atresia	http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system		
http://purl.obolibrary.org/obo/HP_0010935	Abnormality of the upper urinary tract	http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system		
http://purl.obolibrary.org/obo/HP_0010936	Abnormality of the lower urinary tract	http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system		
http://purl.obolibrary.org/obo/HP_0011277	Abnormality of the urinary system physiology	http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system		
http://purl.obolibrary.org/obo/HP_0000135	Hypogonadism	http://purl.obolibrary.org/obo/HP_0008373	Puberty and gonadal disorders		
http://purl.obolibrary.org/obo/HP_0000144	Decreased fertility	http://purl.obolibrary.org/obo/HP_0000080	Abnormality of reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0012874	Abnormal male reproductive system physiology	http://purl.obolibrary.org/obo/HP_0000080	Abnormality of reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0030012	Abnormal female reproductive system physiology	http://purl.obolibrary.org/obo/HP_0000080	Abnormality of reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0030016	Dyspareunia	http://purl.obolibrary.org/obo/HP_0000080	Abnormality of reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0008682	Renal tubular epithelial necrosis	http://purl.obolibrary.org/obo/HP_0032618	Renal necrosis		
http://purl.obolibrary.org/obo/HP_0032950	Abnormal renal tubular lumen morphology	http://purl.obolibrary.org/obo/HP_0000091	Abnormal renal tubule morphology		
http://purl.obolibrary.org/obo/HP_0000096	Glomerular sclerosis	http://purl.obolibrary.org/obo/HP_0000095	Abnormal renal glomerulus morphology		
http://purl.obolibrary.org/obo/HP_0000099	Glomerulonephritis	http://purl.obolibrary.org/obo/HP_0000123	Nephritis		
http://purl.obolibrary.org/obo/HP_0001966	Abnormal glomerular mesangium morphology	http://purl.obolibrary.org/obo/HP_0000095	Abnormal renal glomerulus morphology		
http://purl.obolibrary.org/obo/HP_0030162	Glomerulomegaly	http://purl.obolibrary.org/obo/HP_0000095	Abnormal renal glomerulus morphology		
http://purl.obolibrary.org/obo/HP_0001548	Overgrowth	http://purl.obolibrary.org/obo/HP_0000098	Tall stature		
http://purl.obolibrary.org/obo/HP_0000113	Polycystic kidney dysplasia	http://purl.obolibrary.org/obo/HP_0000107	Renal cyst		
http://purl.obolibrary.org/obo/HP_0000119	Abnormality of the genitourinary system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000152	Abnormality of head or neck	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000478	Abnormality of the eye	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000598	Abnormality of the ear	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000769	Abnormality of the breast	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001197	Abnormality of prenatal development or birth	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001507	Growth abnormality	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001574	Abnormality of the integument	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001608	Abnormality of the voice	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001626	Abnormality of the cardiovascular system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0002086	Abnormality of the respiratory system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0002664	Neoplasm	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0002715	Abnormality of the immune system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000707	Abnormality of the nervous system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0045027	Abnormality of the thoracic cavity	http://purl.obolibrary.org/obo/HP_0000118	Phenotypic abnormality		
http://purl.obolibrary.org/obo/HP_0000078	Abnormality of the genital system	http://purl.obolibrary.org/obo/HP_0000119	Abnormality of the genitourinary system		
http://purl.obolibrary.org/obo/HP_0000079	Abnormality of the urinary system	http://purl.obolibrary.org/obo/HP_0000119	Abnormality of the genitourinary system		
http://purl.obolibrary.org/obo/HP_0012620	Cloacal abnormality	http://purl.obolibrary.org/obo/HP_0010866	Abdominal wall defect		
http://purl.obolibrary.org/obo/HP_0011038	Abnormal renal tubular resorption	http://purl.obolibrary.org/obo/HP_0000124	Renal tubular dysfunction		
http://purl.obolibrary.org/obo/HP_0008684	Aplasia/hypoplasia of the uterus	http://purl.obolibrary.org/obo/HP_0000130	Abnormality of the uterus		
http://purl.obolibrary.org/obo/HP_0012888	Abnormal uterine cervix morphology	http://purl.obolibrary.org/obo/HP_0000130	Abnormality of the uterus		
http://purl.obolibrary.org/obo/HP_0000044	Hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/HP_0000135	Hypogonadism		
http://purl.obolibrary.org/obo/HP_0000134	Female hypogonadism	http://purl.obolibrary.org/obo/HP_0031066	Abnormal ovarian physiology		
http://purl.obolibrary.org/obo/HP_0000815	Hypergonadotropic hypogonadism	http://purl.obolibrary.org/obo/HP_0000135	Hypogonadism		
http://purl.obolibrary.org/obo/HP_0031065	Abnormal ovarian morphology	http://purl.obolibrary.org/obo/HP_0000137	Abnormality of the ovary		
http://purl.obolibrary.org/obo/HP_0000147	Polycystic ovaries	http://purl.obolibrary.org/obo/HP_0000138	Ovarian cyst		
http://purl.obolibrary.org/obo/HP_0000141	Amenorrhea	http://purl.obolibrary.org/obo/HP_0000140	Abnormality of the menstrual cycle		
http://purl.obolibrary.org/obo/HP_0000858	Irregular menstruation	http://purl.obolibrary.org/obo/HP_0000140	Abnormality of the menstrual cycle		
http://purl.obolibrary.org/obo/HP_0000132	Menorrhagia	http://purl.obolibrary.org/obo/HP_0001892	Abnormal bleeding		
http://purl.obolibrary.org/obo/HP_0000148	Vaginal atresia	http://purl.obolibrary.org/obo/HP_0001827	Genital tract atresia		
http://purl.obolibrary.org/obo/HP_0001153	Septate vagina	http://purl.obolibrary.org/obo/HP_0000142	Abnormal vagina morphology		
http://purl.obolibrary.org/obo/HP_0011026	Aplasia/Hypoplasia of the vagina	http://purl.obolibrary.org/obo/HP_0000142	Abnormal vagina morphology		
http://purl.obolibrary.org/obo/HP_0100672	Vaginal hernia	http://purl.obolibrary.org/obo/HP_0100823	Genital hernia		
http://purl.obolibrary.org/obo/HP_0000789	Infertility	http://purl.obolibrary.org/obo/HP_0000144	Decreased fertility		
http://purl.obolibrary.org/obo/HP_0000234	Abnormality of the head	http://purl.obolibrary.org/obo/HP_0000152	Abnormality of head or neck		
http://purl.obolibrary.org/obo/HP_0000464	Abnormality of the neck	http://purl.obolibrary.org/obo/HP_0000152	Abnormality of head or neck		
http://purl.obolibrary.org/obo/HP_0000157	Abnormality of the tongue	http://purl.obolibrary.org/obo/HP_0000153	Abnormality of the mouth		
http://purl.obolibrary.org/obo/HP_0000177	Abnormal upper lip morphology	http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology		
http://purl.obolibrary.org/obo/HP_0000178	Abnormal lower lip morphology	http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology		
http://purl.obolibrary.org/obo/HP_0000233	Thin vermilion border	http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology		
http://purl.obolibrary.org/obo/HP_0100267	Lip pit	http://purl.obolibrary.org/obo/HP_0100276	Skin pit		
http://purl.obolibrary.org/obo/HP_0100788	Fused lips	http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology		
http://purl.obolibrary.org/obo/HP_0000159	Abnormal lip morphology	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0000164	Abnormality of the dentition	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0000174	Abnormal palate morphology	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0000202	Orofacial cleft	http://purl.obolibrary.org/obo/HP_5201015	Craniofacial cleft		
http://purl.obolibrary.org/obo/HP_0006477	Abnormal alveolar ridge morphology	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0010286	Abnormal salivary gland morphology	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0011337	Abnormality of mouth size	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0011338	Abnormality of mouth shape	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0011830	Abnormal oral mucosa morphology	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0410012	Abnormal mouth floor morphology	http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology		
http://purl.obolibrary.org/obo/HP_0000692	Tooth malposition	http://purl.obolibrary.org/obo/HP_0000164	Abnormality of the dentition		
http://purl.obolibrary.org/obo/HP_0000704	Periodontitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0006482	Abnormal dental morphology	http://purl.obolibrary.org/obo/HP_0000164	Abnormality of the dentition		
http://purl.obolibrary.org/obo/HP_0011061	Abnormality of dental structure	http://purl.obolibrary.org/obo/HP_0000164	Abnormality of the dentition		
http://purl.obolibrary.org/obo/HP_0006483	Abnormal number of teeth	http://purl.obolibrary.org/obo/HP_0000164	Abnormality of the dentition		
http://purl.obolibrary.org/obo/HP_0000212	Gingival overgrowth	http://purl.obolibrary.org/obo/HP_0000168	Abnormality of the gingiva		
http://purl.obolibrary.org/obo/HP_0000222	Gingival hyperkeratosis	http://purl.obolibrary.org/obo/HP_0000962	Hyperkeratosis		
http://purl.obolibrary.org/obo/HP_0000230	Gingivitis	http://purl.obolibrary.org/obo/HP_0000168	Abnormality of the gingiva		
http://purl.obolibrary.org/obo/HP_0012292	Fusion of gums	http://purl.obolibrary.org/obo/HP_0000168	Abnormality of the gingiva		
http://purl.obolibrary.org/obo/HP_0025141	Gingival calcification	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0000193	Bifid uvula	http://purl.obolibrary.org/obo/HP_0000172	Abnormal uvula morphology		
http://purl.obolibrary.org/obo/HP_0010293	Aplasia/Hypoplasia of the uvula	http://purl.obolibrary.org/obo/HP_0000172	Abnormal uvula morphology		
http://purl.obolibrary.org/obo/HP_0010809	Broad uvula	http://purl.obolibrary.org/obo/HP_0000172	Abnormal uvula morphology		
http://purl.obolibrary.org/obo/HP_0010810	Long uvula	http://purl.obolibrary.org/obo/HP_0000172	Abnormal uvula morphology		
http://purl.obolibrary.org/obo/HP_0010811	Narrow uvula	http://purl.obolibrary.org/obo/HP_0000172	Abnormal uvula morphology		
http://purl.obolibrary.org/obo/HP_0430017	Abnormality of uvular muscle	http://purl.obolibrary.org/obo/HP_0430014	Abnormality of musculature of soft palate		
http://purl.obolibrary.org/obo/HP_0000175	Cleft palate	http://purl.obolibrary.org/obo/HP_0000202	Orofacial cleft		
http://purl.obolibrary.org/obo/HP_0000189	Narrow palate	http://purl.obolibrary.org/obo/HP_0000174	Abnormal palate morphology		
http://purl.obolibrary.org/obo/HP_0000218	High palate	http://purl.obolibrary.org/obo/HP_0000174	Abnormal palate morphology		
http://purl.obolibrary.org/obo/HP_0100736	Abnormal soft palate morphology	http://purl.obolibrary.org/obo/HP_0000174	Abnormal palate morphology		
http://purl.obolibrary.org/obo/HP_0100737	Abnormal hard palate morphology	http://purl.obolibrary.org/obo/HP_0000174	Abnormal palate morphology		
http://purl.obolibrary.org/obo/HP_5201016	Submucous cleft palate	http://purl.obolibrary.org/obo/HP_0000175	Cleft palate		
http://purl.obolibrary.org/obo/HP_0000185	Cleft soft palate	http://purl.obolibrary.org/obo/HP_0100736	Abnormal soft palate morphology		
http://purl.obolibrary.org/obo/HP_0410005	Cleft hard palate	http://purl.obolibrary.org/obo/HP_0100737	Abnormal hard palate morphology		
http://purl.obolibrary.org/obo/HP_0000188	Short upper lip	http://purl.obolibrary.org/obo/HP_0000177	Abnormal upper lip morphology		
http://purl.obolibrary.org/obo/HP_0000204	Cleft upper lip	http://purl.obolibrary.org/obo/HP_0410030	Cleft lip		
http://purl.obolibrary.org/obo/HP_0011339	Abnormality of upper lip vermillion	http://purl.obolibrary.org/obo/HP_0000177	Abnormal upper lip morphology		
http://purl.obolibrary.org/obo/HP_0011341	Long upper lip	http://purl.obolibrary.org/obo/HP_0000177	Abnormal upper lip morphology		
http://purl.obolibrary.org/obo/HP_0010281	Cleft lower lip	http://purl.obolibrary.org/obo/HP_0410030	Cleft lip		
http://purl.obolibrary.org/obo/HP_0010282	Thin lower lip vermilion	http://purl.obolibrary.org/obo/HP_0000233	Thin vermilion border		
http://purl.obolibrary.org/obo/HP_0000216	Broad secondary alveolar ridge	http://purl.obolibrary.org/obo/HP_0000187	Broad alveolar ridges		
http://purl.obolibrary.org/obo/HP_0009740	Aplasia of the parotid gland	http://purl.obolibrary.org/obo/HP_0000197	Abnormal parotid gland morphology		
http://purl.obolibrary.org/obo/HP_0010289	Cleft maxillary alveolar ridge	http://purl.obolibrary.org/obo/HP_0000202	Orofacial cleft		
http://purl.obolibrary.org/obo/HP_5201010	Microform cleft of the upper lip	http://purl.obolibrary.org/obo/HP_0000204	Cleft upper lip		
http://purl.obolibrary.org/obo/HP_0041051	Ageusia	http://purl.obolibrary.org/obo/HP_0000223	Abnormality of taste sensation		
http://purl.obolibrary.org/obo/HP_0000219	Thin upper lip vermilion	http://purl.obolibrary.org/obo/HP_0011339	Abnormality of upper lip vermillion		
http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0001965	Abnormal scalp morphology	http://purl.obolibrary.org/obo/HP_0000234	Abnormality of the head		
http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face	http://purl.obolibrary.org/obo/HP_0000234	Abnormality of the head		
http://purl.obolibrary.org/obo/HP_3000036	Abnormal head blood vessel morphology	http://purl.obolibrary.org/obo/HP_0025015	Abnormal vascular morphology		
http://purl.obolibrary.org/obo/HP_5201015	Craniofacial cleft	http://purl.obolibrary.org/obo/HP_0000234	Abnormality of the head		
http://purl.obolibrary.org/obo/HP_0011328	Abnormal fontanelle morphology	http://purl.obolibrary.org/obo/HP_0000235	Abnormal cranial suture/fontanelle morphology		
http://purl.obolibrary.org/obo/HP_0011329	Abnormality of cranial sutures	http://purl.obolibrary.org/obo/HP_0000235	Abnormal cranial suture/fontanelle morphology		
http://purl.obolibrary.org/obo/HP_0040195	Decreased head circumference	http://purl.obolibrary.org/obo/HP_0000240	Abnormality of skull size		
http://purl.obolibrary.org/obo/HP_0000246	Sinusitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0002687	Abnormality of frontal sinus	http://purl.obolibrary.org/obo/HP_0000245	Abnormal paranasal sinus morphology		
http://purl.obolibrary.org/obo/HP_0009120	Aplasia/Hypoplasia involving the sinuses	http://purl.obolibrary.org/obo/HP_0009116	Aplasia/Hypoplasia involving bones of the skull		
http://purl.obolibrary.org/obo/HP_0430022	Abnormality of the sphenoid sinus	http://purl.obolibrary.org/obo/HP_0000245	Abnormal paranasal sinus morphology		
http://purl.obolibrary.org/obo/HP_0430023	Abnormality of the maxillary sinus	http://purl.obolibrary.org/obo/HP_0000245	Abnormal paranasal sinus morphology		
http://purl.obolibrary.org/obo/HP_0000255	Acute sinusitis	http://purl.obolibrary.org/obo/HP_0000246	Sinusitis		
http://purl.obolibrary.org/obo/HP_0004481	Progressive macrocephaly	http://purl.obolibrary.org/obo/HP_0000256	Macrocephaly		
http://purl.obolibrary.org/obo/HP_0000265	Mastoiditis	http://purl.obolibrary.org/obo/HP_0000264	Abnormal mastoid morphology		
http://purl.obolibrary.org/obo/HP_0012761	Absent mastoid	http://purl.obolibrary.org/obo/HP_0000264	Abnormal mastoid morphology		
http://purl.obolibrary.org/obo/HP_0004484	Craniofacial asymmetry	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0000275	Narrow face	http://purl.obolibrary.org/obo/HP_0000274	Small face		
http://purl.obolibrary.org/obo/HP_0011219	Short face	http://purl.obolibrary.org/obo/HP_0000274	Small face		
http://purl.obolibrary.org/obo/HP_0009118	Aplasia/Hypoplasia of the mandible	http://purl.obolibrary.org/obo/HP_0009116	Aplasia/Hypoplasia involving bones of the skull		
http://purl.obolibrary.org/obo/HP_0010753	Midline defect of mandible	http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology		
http://purl.obolibrary.org/obo/HP_0000278	Retrognathia	http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology		
http://purl.obolibrary.org/obo/HP_0009754	Fibrous syngnathia	http://purl.obolibrary.org/obo/HP_0006477	Abnormal alveolar ridge morphology		
http://purl.obolibrary.org/obo/HP_0009940	Asymmetry of the mandible	http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology		
http://purl.obolibrary.org/obo/HP_0012801	Narrow jaw	http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology		
http://purl.obolibrary.org/obo/HP_0012802	Broad jaw	http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology		
http://purl.obolibrary.org/obo/HP_0100539	Periorbital edema	http://purl.obolibrary.org/obo/HP_0000606	Abnormality of the periorbital region		
http://purl.obolibrary.org/obo/HP_0000337	Broad forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0000340	Sloping forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0000341	Narrow forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0000348	High forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0000350	Small forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0002003	Large forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0011220	Prominent forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0004425	Flat forehead	http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology		
http://purl.obolibrary.org/obo/HP_0005336	Forehead hyperpigmentation	http://purl.obolibrary.org/obo/HP_0007400	Irregular hyperpigmentation		
http://purl.obolibrary.org/obo/HP_0005556	Abnormality of the metopic suture	http://purl.obolibrary.org/obo/HP_0011329	Abnormality of cranial sutures		
http://purl.obolibrary.org/obo/HP_0000287	Increased facial adipose tissue	http://purl.obolibrary.org/obo/HP_0000291	Abnormality of facial adipose tissue		
http://purl.obolibrary.org/obo/HP_0000292	Loss of facial adipose tissue	http://purl.obolibrary.org/obo/HP_0008887	Adipose tissue loss		
http://purl.obolibrary.org/obo/HP_0000297	Facial hypotonia	http://purl.obolibrary.org/obo/HP_0001252	Hypotonia		
http://purl.obolibrary.org/obo/HP_0004660	Hypoplasia of facial musculature	http://purl.obolibrary.org/obo/HP_0000301	Abnormality of facial musculature		
http://purl.obolibrary.org/obo/HP_0012892	Facial muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0003712	Skeletal muscle hypertrophy		
http://purl.obolibrary.org/obo/HP_0045037	Abnormality of jaw muscles	http://purl.obolibrary.org/obo/HP_0000301	Abnormality of facial musculature		
http://purl.obolibrary.org/obo/HP_0430018	Abnormality of nasal musculature	http://purl.obolibrary.org/obo/HP_0000301	Abnormality of facial musculature		
http://purl.obolibrary.org/obo/HP_0010668	Abnormal zygomatic bone morphology	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0011800	Midface retrusion	http://purl.obolibrary.org/obo/HP_0000309	Abnormal midface morphology		
http://purl.obolibrary.org/obo/HP_0001144	Orbital cyst	http://purl.obolibrary.org/obo/HP_0000315	Abnormality of the orbital region		
http://purl.obolibrary.org/obo/HP_0000327	Hypoplasia of the maxilla	http://purl.obolibrary.org/obo/HP_0000326	Abnormal maxilla morphology		
http://purl.obolibrary.org/obo/HP_0002010	Narrow maxilla	http://purl.obolibrary.org/obo/HP_0000326	Abnormal maxilla morphology		
http://purl.obolibrary.org/obo/HP_0009117	Aplasia/Hypoplasia of the maxilla	http://purl.obolibrary.org/obo/HP_0009116	Aplasia/Hypoplasia involving bones of the skull		
http://purl.obolibrary.org/obo/HP_0010755	Asymmetry of the maxilla	http://purl.obolibrary.org/obo/HP_0000326	Abnormal maxilla morphology		
http://purl.obolibrary.org/obo/HP_0010758	Abnormality of the premaxilla	http://purl.obolibrary.org/obo/HP_0000326	Abnormal maxilla morphology		
http://purl.obolibrary.org/obo/HP_0005439	Maxillozygomatic hypoplasia	http://purl.obolibrary.org/obo/HP_0010669	Hypoplasia of the zygomatic bone		
http://purl.obolibrary.org/obo/HP_0000372	Abnormal auditory canal morphology	http://purl.obolibrary.org/obo/HP_0000356	Abnormality of the outer ear		
http://purl.obolibrary.org/obo/HP_0000377	Abnormal pinna morphology	http://purl.obolibrary.org/obo/HP_0000356	Abnormality of the outer ear		
http://purl.obolibrary.org/obo/HP_0000369	Low-set ears	http://purl.obolibrary.org/obo/HP_0000357	Abnormal location of ears		
http://purl.obolibrary.org/obo/HP_0010722	Asymmetry of the ears	http://purl.obolibrary.org/obo/HP_0000357	Abnormal location of ears		
http://purl.obolibrary.org/obo/HP_0011390	Abnormal inner ear morphology	http://purl.obolibrary.org/obo/HP_0000359	Abnormality of the inner ear		
http://purl.obolibrary.org/obo/HP_0000365	Hearing impairment	http://purl.obolibrary.org/obo/HP_0000364	Hearing abnormality		
http://purl.obolibrary.org/obo/HP_0001742	Nasal congestion	http://purl.obolibrary.org/obo/HP_0000366	Abnormality of the nose		
http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology	http://purl.obolibrary.org/obo/HP_0000366	Abnormality of the nose		
http://purl.obolibrary.org/obo/HP_0012384	Rhinitis	http://purl.obolibrary.org/obo/HP_0000366	Abnormality of the nose		
http://purl.obolibrary.org/obo/HP_0000421	Epistaxis	http://purl.obolibrary.org/obo/HP_0001892	Abnormal bleeding		
http://purl.obolibrary.org/obo/HP_0011452	Functional abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0000370	Abnormality of the middle ear		
http://purl.obolibrary.org/obo/HP_0008609	Abnormal middle ear morphology	http://purl.obolibrary.org/obo/HP_0000370	Abnormality of the middle ear		
http://purl.obolibrary.org/obo/HP_0100799	Neoplasm of the middle ear	http://purl.obolibrary.org/obo/HP_0012780	Neoplasm of the ear		
http://purl.obolibrary.org/obo/HP_0040115	Abnormal Eustachian tube morphology	http://purl.obolibrary.org/obo/HP_0000370	Abnormality of the middle ear		
http://purl.obolibrary.org/obo/HP_0000402	Stenosis of the external auditory canal	http://purl.obolibrary.org/obo/HP_0000372	Abnormal auditory canal morphology		
http://purl.obolibrary.org/obo/HP_0000413	Atresia of the external auditory canal	http://purl.obolibrary.org/obo/HP_0000372	Abnormal auditory canal morphology		
http://purl.obolibrary.org/obo/HP_0005102	Cochlear degeneration	http://purl.obolibrary.org/obo/HP_0000375	Abnormal cochlea morphology		
http://purl.obolibrary.org/obo/HP_0008554	Cochlear malformation	http://purl.obolibrary.org/obo/HP_0000375	Abnormal cochlea morphology		
http://purl.obolibrary.org/obo/HP_0011395	Aplasia/Hypoplasia of the cochlea	http://purl.obolibrary.org/obo/HP_0008774	Aplasia/Hypoplasia of the inner ear		
http://purl.obolibrary.org/obo/HP_0000357	Abnormal location of ears	http://purl.obolibrary.org/obo/HP_0000377	Abnormal pinna morphology		
http://purl.obolibrary.org/obo/HP_0000400	Macrotia	http://purl.obolibrary.org/obo/HP_0000377	Abnormal pinna morphology		
http://purl.obolibrary.org/obo/HP_0000411	Protruding ear	http://purl.obolibrary.org/obo/HP_0000377	Abnormal pinna morphology		
http://purl.obolibrary.org/obo/HP_0005103	Calcification of the auricular cartilage	http://purl.obolibrary.org/obo/HP_0100593	Calcification of cartilage		
http://purl.obolibrary.org/obo/HP_0008608	Hypertrophic auricular cartilage	http://purl.obolibrary.org/obo/HP_0000377	Abnormal pinna morphology		
http://purl.obolibrary.org/obo/HP_0008772	Aplasia/Hypoplasia of the external ear	http://purl.obolibrary.org/obo/HP_0008771	Aplasia/Hypoplasia of the ear		
http://purl.obolibrary.org/obo/HP_0400004	Long ear	http://purl.obolibrary.org/obo/HP_0000377	Abnormal pinna morphology		
http://purl.obolibrary.org/obo/HP_0400005	Short ear	http://purl.obolibrary.org/obo/HP_0000377	Abnormal pinna morphology		
http://purl.obolibrary.org/obo/HP_0000371	Acute otitis media	http://purl.obolibrary.org/obo/HP_0000388	Otitis media		
http://purl.obolibrary.org/obo/HP_0000452	Choanal stenosis	http://purl.obolibrary.org/obo/HP_0000415	Abnormal choanae morphology		
http://purl.obolibrary.org/obo/HP_0000453	Choanal atresia	http://purl.obolibrary.org/obo/HP_0000415	Abnormal choanae morphology		
http://purl.obolibrary.org/obo/HP_0000430	Underdeveloped nasal alae	http://purl.obolibrary.org/obo/HP_0009924	Aplasia/Hypoplasia involving the nose		
http://purl.obolibrary.org/obo/HP_0005275	Cartilaginous ossification of nose	http://purl.obolibrary.org/obo/HP_0000429	Abnormal morphology of the nasal alae		
http://purl.obolibrary.org/obo/HP_0009928	Thick nasal alae	http://purl.obolibrary.org/obo/HP_0000429	Abnormal morphology of the nasal alae		
http://purl.obolibrary.org/obo/HP_0010649	Flat nasal alae	http://purl.obolibrary.org/obo/HP_0000429	Abnormal morphology of the nasal alae		
http://purl.obolibrary.org/obo/HP_0000414	Bulbous nose	http://purl.obolibrary.org/obo/HP_0000436	Abnormal nasal tip morphology		
http://purl.obolibrary.org/obo/HP_0000437	Depressed nasal tip	http://purl.obolibrary.org/obo/HP_0000436	Abnormal nasal tip morphology		
http://purl.obolibrary.org/obo/HP_0000451	Triangular nasal tip	http://purl.obolibrary.org/obo/HP_0000436	Abnormal nasal tip morphology		
http://purl.obolibrary.org/obo/HP_0000455	Broad nasal tip	http://purl.obolibrary.org/obo/HP_0000436	Abnormal nasal tip morphology		
http://purl.obolibrary.org/obo/HP_0000456	Bifid nasal tip	http://purl.obolibrary.org/obo/HP_0000436	Abnormal nasal tip morphology		
http://purl.obolibrary.org/obo/HP_0005278	Hypoplastic nasal tip	http://purl.obolibrary.org/obo/HP_0000436	Abnormal nasal tip morphology		
http://purl.obolibrary.org/obo/HP_0003722	Neck flexor weakness	http://purl.obolibrary.org/obo/HP_0000467	Neck muscle weakness		
http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology	http://purl.obolibrary.org/obo/HP_0000478	Abnormality of the eye		
http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology	http://purl.obolibrary.org/obo/HP_0000478	Abnormality of the eye		
http://purl.obolibrary.org/obo/HP_0000480	Retinal coloboma	http://purl.obolibrary.org/obo/HP_0000589	Coloboma		
http://purl.obolibrary.org/obo/HP_0000488	Retinopathy	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0000532	Abnormal chorioretinal morphology	http://purl.obolibrary.org/obo/HP_0000610	Abnormal choroid morphology		
http://purl.obolibrary.org/obo/HP_0000546	Retinal degeneration	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0001103	Abnormal macular morphology	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0008046	Abnormal retinal vascular morphology	http://purl.obolibrary.org/obo/HP_0008047	Abnormality of the vasculature of the eye		
http://purl.obolibrary.org/obo/HP_0000556	Retinal dystrophy	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0007973	Retinal dysplasia	http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology		
http://purl.obolibrary.org/obo/HP_0008061	Aplasia/Hypoplasia of the retina	http://purl.obolibrary.org/obo/HP_0008057	Aplasia/Hypoplasia affecting the fundus		
http://purl.obolibrary.org/obo/HP_0001120	Abnormality of corneal size	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0001131	Corneal dystrophy	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0007957	Corneal opacity	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0011495	Abnormal corneal epithelium morphology	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0100691	Abnormality of the curvature of the cornea	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0007705	Corneal degeneration	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0011486	Abnormal corneal thickness	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0011488	Abnormal corneal endothelium morphology	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0011492	Abnormal corneal stroma morphology	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0040004	Abnormality of corneal shape	http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology		
http://purl.obolibrary.org/obo/HP_0000286	Epicanthus	http://purl.obolibrary.org/obo/HP_0000492	Abnormal eyelid morphology		
http://purl.obolibrary.org/obo/HP_0000498	Blepharitis	http://purl.obolibrary.org/obo/HP_0100533	Inflammatory abnormality of the eye		
http://purl.obolibrary.org/obo/HP_0000499	Abnormal eyelash morphology	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0000506	Telecanthus	http://purl.obolibrary.org/obo/HP_0000492	Abnormal eyelid morphology		
http://purl.obolibrary.org/obo/HP_0007406	Hyperpigmentation of eyelids	http://purl.obolibrary.org/obo/HP_0007400	Irregular hyperpigmentation		
http://purl.obolibrary.org/obo/HP_0009755	Ankyloblepharon	http://purl.obolibrary.org/obo/HP_0000492	Abnormal eyelid morphology		
http://purl.obolibrary.org/obo/HP_0010732	Nodular changes affecting the eyelids	http://purl.obolibrary.org/obo/HP_0200036	Skin nodule		
http://purl.obolibrary.org/obo/HP_0011226	Aplasia/Hypoplasia of the eyelid	http://purl.obolibrary.org/obo/HP_0000492	Abnormal eyelid morphology		
http://purl.obolibrary.org/obo/HP_0100540	Palpebral edema	http://purl.obolibrary.org/obo/HP_0100539	Periorbital edema		
http://purl.obolibrary.org/obo/HP_0430008	Accessory eyelid	http://purl.obolibrary.org/obo/HP_0000492	Abnormal eyelid morphology		
http://purl.obolibrary.org/obo/HP_0000549	Abnormal conjugate eye movement	http://purl.obolibrary.org/obo/HP_0000496	Abnormality of eye movement		
http://purl.obolibrary.org/obo/HP_0000597	Ophthalmoparesis	http://purl.obolibrary.org/obo/HP_0000496	Abnormality of eye movement		
http://purl.obolibrary.org/obo/HP_0000657	Oculomotor apraxia	http://purl.obolibrary.org/obo/HP_0002186	Apraxia		
http://purl.obolibrary.org/obo/HP_0000527	Long eyelashes	http://purl.obolibrary.org/obo/HP_0000499	Abnormal eyelash morphology		
http://purl.obolibrary.org/obo/HP_0002227	White eyelashes	http://purl.obolibrary.org/obo/HP_0009887	Abnormality of hair pigmentation		
http://purl.obolibrary.org/obo/HP_0200102	Sparse or absent eyelashes	http://purl.obolibrary.org/obo/HP_0000499	Abnormal eyelash morphology		
http://purl.obolibrary.org/obo/HP_0008496	Multiple rows of eyelashes	http://purl.obolibrary.org/obo/HP_0000499	Abnormal eyelash morphology		
http://purl.obolibrary.org/obo/HP_0010764	Short eyelashes	http://purl.obolibrary.org/obo/HP_0000499	Abnormal eyelash morphology		
http://purl.obolibrary.org/obo/HP_0430006	Ectopic cilia of eyelid	http://purl.obolibrary.org/obo/HP_0000499	Abnormal eyelash morphology		
http://purl.obolibrary.org/obo/HP_0008054	Abnormal morphology of the conjunctival vasculature	http://purl.obolibrary.org/obo/HP_0008047	Abnormality of the vasculature of the eye		
http://purl.obolibrary.org/obo/HP_0000509	Conjunctivitis	http://purl.obolibrary.org/obo/HP_0025337	Red eye		
http://purl.obolibrary.org/obo/HP_0000505	Visual impairment	http://purl.obolibrary.org/obo/HP_0000504	Abnormality of vision		
http://purl.obolibrary.org/obo/HP_0011514	Abnormality of binocular vision	http://purl.obolibrary.org/obo/HP_0000504	Abnormality of vision		
http://purl.obolibrary.org/obo/HP_0000622	Blurred vision	http://purl.obolibrary.org/obo/HP_0000504	Abnormality of vision		
http://purl.obolibrary.org/obo/HP_0000572	Visual loss	http://purl.obolibrary.org/obo/HP_0000505	Visual impairment		
http://purl.obolibrary.org/obo/HP_0007663	Reduced visual acuity	http://purl.obolibrary.org/obo/HP_0000505	Visual impairment		
http://purl.obolibrary.org/obo/HP_0000518	Cataract	http://purl.obolibrary.org/obo/HP_0000517	Abnormal lens morphology		
http://purl.obolibrary.org/obo/HP_0001083	Ectopia lentis	http://purl.obolibrary.org/obo/HP_0000517	Abnormal lens morphology		
http://purl.obolibrary.org/obo/HP_0011526	Abnormality of lens shape	http://purl.obolibrary.org/obo/HP_0000517	Abnormal lens morphology		
http://purl.obolibrary.org/obo/HP_0008063	Aplasia/Hypoplasia of the lens	http://purl.obolibrary.org/obo/HP_0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye		
http://purl.obolibrary.org/obo/HP_0007834	Progressive cataract	http://purl.obolibrary.org/obo/HP_0000518	Cataract		
http://purl.obolibrary.org/obo/HP_0000612	Iris coloboma	http://purl.obolibrary.org/obo/HP_0000589	Coloboma		
http://purl.obolibrary.org/obo/HP_0000615	Abnormal pupil morphology	http://purl.obolibrary.org/obo/HP_0000525	Abnormality iris morphology		
http://purl.obolibrary.org/obo/HP_0001089	Iris atrophy	http://purl.obolibrary.org/obo/HP_0000525	Abnormality iris morphology		
http://purl.obolibrary.org/obo/HP_0001101	Iritis	http://purl.obolibrary.org/obo/HP_0000525	Abnormality iris morphology		
http://purl.obolibrary.org/obo/HP_0008034	Abnormal iris pigmentation	http://purl.obolibrary.org/obo/HP_0000525	Abnormality iris morphology		
http://purl.obolibrary.org/obo/HP_0008053	Aplasia/Hypoplasia of the iris	http://purl.obolibrary.org/obo/HP_0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye		
http://purl.obolibrary.org/obo/HP_0007905	Abnormal iris vasculature	http://purl.obolibrary.org/obo/HP_0008047	Abnormality of the vasculature of the eye		
http://purl.obolibrary.org/obo/HP_0000533	Chorioretinal atrophy	http://purl.obolibrary.org/obo/HP_0000532	Abnormal chorioretinal morphology		
http://purl.obolibrary.org/obo/HP_0000567	Chorioretinal coloboma	http://purl.obolibrary.org/obo/HP_0000589	Coloboma		
http://purl.obolibrary.org/obo/HP_0001135	Chorioretinal dystrophy	http://purl.obolibrary.org/obo/HP_0000556	Retinal dystrophy		
http://purl.obolibrary.org/obo/HP_0007858	Chorioretinal lacunae	http://purl.obolibrary.org/obo/HP_0000532	Abnormal chorioretinal morphology		
http://purl.obolibrary.org/obo/HP_0007661	Abnormality of chorioretinal pigmentation	http://purl.obolibrary.org/obo/HP_0000532	Abnormal chorioretinal morphology		
http://purl.obolibrary.org/obo/HP_0007731	Chorioretinal dysplasia	http://purl.obolibrary.org/obo/HP_0000532	Abnormal chorioretinal morphology		
http://purl.obolibrary.org/obo/HP_0012424	Chorioretinitis	http://purl.obolibrary.org/obo/HP_0000532	Abnormal chorioretinal morphology		
http://purl.obolibrary.org/obo/HP_0000574	Thick eyebrow	http://purl.obolibrary.org/obo/HP_0000534	Abnormal eyebrow morphology		
http://purl.obolibrary.org/obo/HP_0002226	White eyebrow	http://purl.obolibrary.org/obo/HP_0009887	Abnormality of hair pigmentation		
http://purl.obolibrary.org/obo/HP_0100840	Aplasia/Hypoplasia of the eyebrow	http://purl.obolibrary.org/obo/HP_0000534	Abnormal eyebrow morphology		
http://purl.obolibrary.org/obo/HP_0004523	Long eyebrows	http://purl.obolibrary.org/obo/HP_0000534	Abnormal eyebrow morphology		
http://purl.obolibrary.org/obo/HP_0010730	Double eyebrow	http://purl.obolibrary.org/obo/HP_0000534	Abnormal eyebrow morphology		
http://purl.obolibrary.org/obo/HP_0011229	Broad eyebrow	http://purl.obolibrary.org/obo/HP_0000534	Abnormal eyebrow morphology		
http://purl.obolibrary.org/obo/HP_0001105	Retinal atrophy	http://purl.obolibrary.org/obo/HP_0000546	Retinal degeneration		
http://purl.obolibrary.org/obo/HP_0000608	Macular degeneration	http://purl.obolibrary.org/obo/HP_0001103	Abnormal macular morphology		
http://purl.obolibrary.org/obo/HP_0008035	Retinitis pigmentosa inversa	http://purl.obolibrary.org/obo/HP_0000546	Retinal degeneration		
http://purl.obolibrary.org/obo/HP_0000486	Strabismus	http://purl.obolibrary.org/obo/HP_0000549	Abnormal conjugate eye movement		
http://purl.obolibrary.org/obo/HP_0000525	Abnormality iris morphology	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0000610	Abnormal choroid morphology	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		
http://purl.obolibrary.org/obo/HP_0008055	Aplasia/Hypoplasia affecting the uvea	http://purl.obolibrary.org/obo/HP_0008056	Aplasia/Hypoplasia affecting the eye		
http://purl.obolibrary.org/obo/HP_0000554	Uveitis	http://purl.obolibrary.org/obo/HP_0100533	Inflammatory abnormality of the eye		
http://purl.obolibrary.org/obo/HP_0007646	Absent lower eyelashes	http://purl.obolibrary.org/obo/HP_0000561	Absent eyelashes		
http://purl.obolibrary.org/obo/HP_0040056	Absent upper eyelashes	http://purl.obolibrary.org/obo/HP_0000561	Absent eyelashes		
http://purl.obolibrary.org/obo/HP_0007678	Lacrimal duct stenosis	http://purl.obolibrary.org/obo/HP_0000579	Nasolacrimal duct obstruction		
http://purl.obolibrary.org/obo/HP_0001093	Optic nerve dysplasia	http://purl.obolibrary.org/obo/HP_0000587	Abnormal optic nerve morphology		
http://purl.obolibrary.org/obo/HP_0001138	Optic neuropathy	http://purl.obolibrary.org/obo/HP_0000587	Abnormal optic nerve morphology		
http://purl.obolibrary.org/obo/HP_0008058	Aplasia/Hypoplasia of the optic nerve	http://purl.obolibrary.org/obo/HP_0008057	Aplasia/Hypoplasia affecting the fundus		
http://purl.obolibrary.org/obo/HP_0007807	Optic nerve compression	http://purl.obolibrary.org/obo/HP_0001293	Cranial nerve compression		
http://purl.obolibrary.org/obo/HP_0012795	Abnormal optic disc morphology	http://purl.obolibrary.org/obo/HP_0000587	Abnormal optic nerve morphology		
http://purl.obolibrary.org/obo/HP_0000588	Optic disc coloboma	http://purl.obolibrary.org/obo/HP_0012795	Abnormal optic disc morphology		
http://purl.obolibrary.org/obo/HP_0100719	Lens coloboma	http://purl.obolibrary.org/obo/HP_0008063	Aplasia/Hypoplasia of the lens		
http://purl.obolibrary.org/obo/HP_0000592	Blue sclerae	http://purl.obolibrary.org/obo/HP_0000591	Abnormal sclera morphology		
http://purl.obolibrary.org/obo/HP_0007832	Pigmentation of the sclera	http://purl.obolibrary.org/obo/HP_0000591	Abnormal sclera morphology		
http://purl.obolibrary.org/obo/HP_0030823	Scleral thickening	http://purl.obolibrary.org/obo/HP_0000591	Abnormal sclera morphology		
http://purl.obolibrary.org/obo/HP_0000602	Ophthalmoplegia	http://purl.obolibrary.org/obo/HP_0000597	Ophthalmoparesis		
http://purl.obolibrary.org/obo/HP_0007715	Weak extraocular muscles	http://purl.obolibrary.org/obo/HP_0000597	Ophthalmoparesis		
http://purl.obolibrary.org/obo/HP_0007942	Internal ophthalmoplegia	http://purl.obolibrary.org/obo/HP_0000602	Ophthalmoplegia		
http://purl.obolibrary.org/obo/HP_0001106	Periorbital hyperpigmentation	http://purl.obolibrary.org/obo/HP_0001000	Abnormality of skin pigmentation		
http://purl.obolibrary.org/obo/HP_0011479	Abnormal lacrimal punctum morphology	http://purl.obolibrary.org/obo/HP_0000614	Abnormal nasolacrimal system morphology		
http://purl.obolibrary.org/obo/HP_0011481	Abnormal lacrimal duct morphology	http://purl.obolibrary.org/obo/HP_0000614	Abnormal nasolacrimal system morphology		
http://purl.obolibrary.org/obo/HP_0011482	Abnormal lacrimal gland morphology	http://purl.obolibrary.org/obo/HP_0000614	Abnormal nasolacrimal system morphology		
http://purl.obolibrary.org/obo/HP_0009918	Ectopia pupillae	http://purl.obolibrary.org/obo/HP_0000615	Abnormal pupil morphology		
http://purl.obolibrary.org/obo/HP_0000636	Upper eyelid coloboma	http://purl.obolibrary.org/obo/HP_0000625	Eyelid coloboma		
http://purl.obolibrary.org/obo/HP_0000652	Lower eyelid coloboma	http://purl.obolibrary.org/obo/HP_0000625	Eyelid coloboma		
http://purl.obolibrary.org/obo/HP_0008043	Focal retinal arteriolar constriction	http://purl.obolibrary.org/obo/HP_0000630	Abnormal retinal arterial/arteriolar morphology		
http://purl.obolibrary.org/obo/HP_0000633	Decreased lacrimation	http://purl.obolibrary.org/obo/HP_0000632	Lacrimation abnormality		
http://purl.obolibrary.org/obo/HP_0000522	Alacrima	http://purl.obolibrary.org/obo/HP_0000633	Decreased lacrimation		
http://purl.obolibrary.org/obo/HP_0000705	Amelogenesis imperfecta	http://purl.obolibrary.org/obo/HP_0000682	Abnormal dental enamel morphology		
http://purl.obolibrary.org/obo/HP_0006297	Enamel hypoplasia	http://purl.obolibrary.org/obo/HP_0000685	Hypoplasia of teeth		
http://purl.obolibrary.org/obo/HP_0000689	Dental malocclusion	http://purl.obolibrary.org/obo/HP_0000692	Tooth malposition		
http://purl.obolibrary.org/obo/HP_0000166	Severe periodontitis	http://purl.obolibrary.org/obo/HP_0000704	Periodontitis		
http://purl.obolibrary.org/obo/HP_0011059	Localized periodontitis	http://purl.obolibrary.org/obo/HP_0000704	Periodontitis		
http://purl.obolibrary.org/obo/HP_0012433	Abnormal social behavior	http://purl.obolibrary.org/obo/HP_0000708	Atypical behavior		
http://purl.obolibrary.org/obo/HP_0031466	Impairment in personality functioning	http://purl.obolibrary.org/obo/HP_0000708	Atypical behavior		
http://purl.obolibrary.org/obo/HP_5200045	Reduced impulse control	http://purl.obolibrary.org/obo/HP_0000708	Atypical behavior		
http://purl.obolibrary.org/obo/HP_0100033	Tics	http://purl.obolibrary.org/obo/HP_0000722	Compulsive behaviors		
http://purl.obolibrary.org/obo/HP_0002145	Frontotemporal dementia	http://purl.obolibrary.org/obo/HP_0000726	Dementia		
http://purl.obolibrary.org/obo/HP_0000717	Autism	http://purl.obolibrary.org/obo/HP_0000729	Autistic behavior		
http://purl.obolibrary.org/obo/HP_5200029	Social disinhibition	http://purl.obolibrary.org/obo/HP_5200123	Abnormal response to social norms		
http://purl.obolibrary.org/obo/HP_0000764	Peripheral axonal degeneration	http://purl.obolibrary.org/obo/HP_0000759	Abnormal peripheral nervous system morphology		
http://purl.obolibrary.org/obo/HP_0001291	Abnormal cranial nerve morphology	http://purl.obolibrary.org/obo/HP_0000759	Abnormal peripheral nervous system morphology		
http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination	http://purl.obolibrary.org/obo/HP_0012447	Abnormal myelination		
http://purl.obolibrary.org/obo/HP_0003406	Peripheral nerve compression	http://purl.obolibrary.org/obo/HP_0000759	Abnormal peripheral nervous system morphology		
http://purl.obolibrary.org/obo/HP_0006802	Abnormal anterior horn cell morphology	http://purl.obolibrary.org/obo/HP_0002450	Abnormal motor neuron morphology		
http://purl.obolibrary.org/obo/HP_0012645	Enlarged peripheral nerve	http://purl.obolibrary.org/obo/HP_0000759	Abnormal peripheral nervous system morphology		
http://purl.obolibrary.org/obo/HP_0003390	Sensory axonal neuropathy	http://purl.obolibrary.org/obo/HP_0003477	Peripheral axonal neuropathy		
http://purl.obolibrary.org/obo/HP_0003477	Peripheral axonal neuropathy	http://purl.obolibrary.org/obo/HP_0009830	Peripheral neuropathy		
http://purl.obolibrary.org/obo/HP_0000766	Abnormal sternum morphology	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0000782	Abnormal scapula morphology	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0000889	Abnormal clavicle morphology	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0001547	Abnormal rib cage morphology	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0003043	Abnormal shoulder morphology	http://purl.obolibrary.org/obo/HP_0011844	Abnormal appendicular skeleton morphology		
http://purl.obolibrary.org/obo/HP_0005257	Thoracic hypoplasia	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0100711	Abnormal thoracic spine morphology	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0006711	Aplasia/Hypoplasia involving bones of the thorax	http://purl.obolibrary.org/obo/HP_0009122	Aplasia/hypoplasia affecting bones of the axial skeleton		
http://purl.obolibrary.org/obo/HP_0010306	Short thorax	http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology		
http://purl.obolibrary.org/obo/HP_0000767	Pectus excavatum	http://purl.obolibrary.org/obo/HP_0000766	Abnormal sternum morphology		
http://purl.obolibrary.org/obo/HP_0000893	Bulging of the costochondral junction	http://purl.obolibrary.org/obo/HP_0000919	Abnormality of the costochondral junction		
http://purl.obolibrary.org/obo/HP_0006714	Aplasia/Hypoplasia of the sternum	http://purl.obolibrary.org/obo/HP_0006711	Aplasia/Hypoplasia involving bones of the thorax		
http://purl.obolibrary.org/obo/HP_0000768	Pectus carinatum	http://purl.obolibrary.org/obo/HP_0000766	Abnormal sternum morphology		
http://purl.obolibrary.org/obo/HP_0006637	Sternal punctate calcifications	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0011863	Abnormal sternal ossification	http://purl.obolibrary.org/obo/HP_0003336	Abnormal enchondral ossification		
http://purl.obolibrary.org/obo/HP_0100892	Abnormality of the xiphoid process	http://purl.obolibrary.org/obo/HP_0000766	Abnormal sternum morphology		
http://purl.obolibrary.org/obo/HP_0000883	Thin ribs	http://purl.obolibrary.org/obo/HP_0000772	Abnormal rib morphology		
http://purl.obolibrary.org/obo/HP_0000885	Broad ribs	http://purl.obolibrary.org/obo/HP_0000772	Abnormal rib morphology		
http://purl.obolibrary.org/obo/HP_0000892	Bifid ribs	http://purl.obolibrary.org/obo/HP_0000772	Abnormal rib morphology		
http://purl.obolibrary.org/obo/HP_0000900	Thickened ribs	http://purl.obolibrary.org/obo/HP_0000772	Abnormal rib morphology		
http://purl.obolibrary.org/obo/HP_0000902	Rib fusion	http://purl.obolibrary.org/obo/HP_0000772	Abnormal rib morphology		
http://purl.obolibrary.org/obo/HP_0000919	Abnormality of the costochondral junction	http://purl.obolibrary.org/obo/HP_0000772	Abnormal rib morphology		
http://purl.obolibrary.org/obo/HP_0005815	Supernumerary ribs	http://purl.obolibrary.org/obo/HP_0009144	Supernumerary bones of the axial skeleton		
http://purl.obolibrary.org/obo/HP_0006712	Aplasia/Hypoplasia of the ribs	http://purl.obolibrary.org/obo/HP_0006711	Aplasia/Hypoplasia involving bones of the thorax		
http://purl.obolibrary.org/obo/HP_0012306	Abnormal rib ossification	http://purl.obolibrary.org/obo/HP_0003336	Abnormal enchondral ossification		
http://purl.obolibrary.org/obo/HP_0000776	Congenital diaphragmatic hernia	http://purl.obolibrary.org/obo/HP_0100790	Hernia		
http://purl.obolibrary.org/obo/HP_0010315	Aplasia/Hypoplasia of the diaphragm	http://purl.obolibrary.org/obo/HP_0000775	Abnormality of the diaphragm		
http://purl.obolibrary.org/obo/HP_0001474	Sclerotic scapulae	http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density		
http://purl.obolibrary.org/obo/HP_0006713	Aplasia/Hypoplasia of the scapulae	http://purl.obolibrary.org/obo/HP_0006711	Aplasia/Hypoplasia involving bones of the thorax		
http://purl.obolibrary.org/obo/HP_0011912	Abnormality of the glenoid fossa	http://purl.obolibrary.org/obo/HP_0003043	Abnormal shoulder morphology		
http://purl.obolibrary.org/obo/HP_0000068	Urethral atresia	http://purl.obolibrary.org/obo/HP_0000795	Abnormality of the urethra		
http://purl.obolibrary.org/obo/HP_0000796	Urethral obstruction	http://purl.obolibrary.org/obo/HP_0000795	Abnormality of the urethra		
http://purl.obolibrary.org/obo/HP_0100627	Displacement of the urethral meatus	http://purl.obolibrary.org/obo/HP_0032076	Abnormal male urethral meatus morphology		
http://purl.obolibrary.org/obo/HP_0500006	Urethritis	http://purl.obolibrary.org/obo/HP_0000795	Abnormality of the urethra		
http://purl.obolibrary.org/obo/HP_0008661	Urethral stenosis	http://purl.obolibrary.org/obo/HP_0000796	Urethral obstruction		
http://purl.obolibrary.org/obo/HP_0000032	Abnormal male external genitalia morphology	http://purl.obolibrary.org/obo/HP_0010461	Abnormality of the male genitalia		
http://purl.obolibrary.org/obo/HP_0000042	Absent external genitalia	http://purl.obolibrary.org/obo/HP_0000811	Abnormal external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000055	Abnormal female external genitalia morphology	http://purl.obolibrary.org/obo/HP_0010460	Abnormality of the female genitalia		
http://purl.obolibrary.org/obo/HP_0003241	External genital hypoplasia	http://purl.obolibrary.org/obo/HP_0000811	Abnormal external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0003247	Overgrowth of external genitalia	http://purl.obolibrary.org/obo/HP_0000811	Abnormal external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0012293	Abnormal genital pigmentation	http://purl.obolibrary.org/obo/HP_0000811	Abnormal external genitalia morphology		
http://purl.obolibrary.org/obo/HP_0000008	Abnormal morphology of female internal genitalia	http://purl.obolibrary.org/obo/HP_0010460	Abnormality of the female genitalia		
http://purl.obolibrary.org/obo/HP_0000022	Abnormal male internal genitalia morphology	http://purl.obolibrary.org/obo/HP_0010461	Abnormality of the male genitalia		
http://purl.obolibrary.org/obo/HP_0000133	Gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0000812	Abnormal internal genitalia		
http://purl.obolibrary.org/obo/HP_0008639	Gonadal hypoplasia	http://purl.obolibrary.org/obo/HP_0000812	Abnormal internal genitalia		
http://purl.obolibrary.org/obo/HP_0008702	Absent internal genitalia	http://purl.obolibrary.org/obo/HP_0000812	Abnormal internal genitalia		
http://purl.obolibrary.org/obo/HP_0008703	Gonadal calcification	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0000820	Abnormality of the thyroid gland	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0000828	Abnormality of the parathyroid gland	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0000834	Abnormality of the adrenal glands	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0000847	Abnormality of renin-angiotensin system	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0000864	Abnormality of the hypothalamus-pituitary axis	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0003117	Abnormal circulating hormone concentration	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0008373	Puberty and gonadal disorders	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0000777	Abnormal thymus morphology	http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system		
http://purl.obolibrary.org/obo/HP_0000819	Diabetes mellitus	http://purl.obolibrary.org/obo/HP_0001952	Glucose intolerance		
http://purl.obolibrary.org/obo/HP_0012029	Abnormal urine hormone level	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0012093	Abnormality of endocrine pancreas physiology	http://purl.obolibrary.org/obo/HP_0012091	Abnormality of pancreas physiology		
http://purl.obolibrary.org/obo/HP_0012680	Abnormality of the pineal gland	http://purl.obolibrary.org/obo/HP_0000818	Abnormality of the endocrine system		
http://purl.obolibrary.org/obo/HP_0002926	Abnormality of thyroid physiology	http://purl.obolibrary.org/obo/HP_0000820	Abnormality of the thyroid gland		
http://purl.obolibrary.org/obo/HP_0011772	Abnormal thyroid morphology	http://purl.obolibrary.org/obo/HP_0000820	Abnormality of the thyroid gland		
http://purl.obolibrary.org/obo/HP_0000832	Primary hypothyroidism	http://purl.obolibrary.org/obo/HP_0000821	Hypothyroidism		
http://purl.obolibrary.org/obo/HP_0010465	Precocious puberty in females	http://purl.obolibrary.org/obo/HP_0000826	Precocious puberty		
http://purl.obolibrary.org/obo/HP_0011767	Abnormality of the parathyroid physiology	http://purl.obolibrary.org/obo/HP_0000828	Abnormality of the parathyroid gland		
http://purl.obolibrary.org/obo/HP_0011766	Abnormal parathyroid morphology	http://purl.obolibrary.org/obo/HP_0000828	Abnormality of the parathyroid gland		
http://purl.obolibrary.org/obo/HP_0000824	Decreased response to growth hormone stimulation test	http://purl.obolibrary.org/obo/HP_0031073	Abnormal response to endocrine stimulation test		
http://purl.obolibrary.org/obo/HP_0000871	Panhypopituitarism	http://purl.obolibrary.org/obo/HP_0000830	Anterior hypopituitarism		
http://purl.obolibrary.org/obo/HP_0011732	Abnormal adrenal morphology	http://purl.obolibrary.org/obo/HP_0031071	Abnormal endocrine morphology		
http://purl.obolibrary.org/obo/HP_0011733	Abnormality of adrenal physiology	http://purl.obolibrary.org/obo/HP_0000834	Abnormality of the adrenal glands		
http://purl.obolibrary.org/obo/HP_0008239	Adrenal medullary hypoplasia	http://purl.obolibrary.org/obo/HP_0000835	Adrenal hypoplasia		
http://purl.obolibrary.org/obo/HP_0000825	Hyperinsulinemic hypoglycemia	http://purl.obolibrary.org/obo/HP_0000842	Hyperinsulinemia		
http://purl.obolibrary.org/obo/HP_0008207	Primary adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0000846	Adrenal insufficiency		
http://purl.obolibrary.org/obo/HP_0040084	Abnormal circulating renin concentration	http://purl.obolibrary.org/obo/HP_0000847	Abnormality of renin-angiotensin system		
http://purl.obolibrary.org/obo/HP_0040085	Abnormal circulating aldosterone concentration	http://purl.obolibrary.org/obo/HP_0000847	Abnormality of renin-angiotensin system		
http://purl.obolibrary.org/obo/HP_0008182	Adrenocortical hypoplasia	http://purl.obolibrary.org/obo/HP_0000849	Adrenocortical abnormality		
http://purl.obolibrary.org/obo/HP_0012285	Abnormal hypothalamus physiology	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0012503	Abnormal pituitary gland morphology	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0006584	Small abnormally formed scapulae	http://purl.obolibrary.org/obo/HP_0000882	Hypoplastic scapulae		
http://purl.obolibrary.org/obo/HP_0000890	Long clavicles	http://purl.obolibrary.org/obo/HP_0000889	Abnormal clavicle morphology		
http://purl.obolibrary.org/obo/HP_0000916	Broad clavicles	http://purl.obolibrary.org/obo/HP_0000889	Abnormal clavicle morphology		
http://purl.obolibrary.org/obo/HP_0006710	Aplasia/Hypoplasia of the clavicles	http://purl.obolibrary.org/obo/HP_0006711	Aplasia/Hypoplasia involving bones of the thorax		
http://purl.obolibrary.org/obo/HP_0006645	Thin clavicles	http://purl.obolibrary.org/obo/HP_0000889	Abnormal clavicle morphology		
http://purl.obolibrary.org/obo/HP_0000920	Enlargement of the costochondral junction	http://purl.obolibrary.org/obo/HP_0000919	Abnormality of the costochondral junction		
http://purl.obolibrary.org/obo/HP_0006600	Progressive calcification of costochondral cartilage	http://purl.obolibrary.org/obo/HP_0100593	Calcification of cartilage		
http://purl.obolibrary.org/obo/HP_0006607	Precocious costochondral ossification	http://purl.obolibrary.org/obo/HP_0012306	Abnormal rib ossification		
http://purl.obolibrary.org/obo/HP_0003306	Spinal rigidity	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0003319	Abnormality of the cervical spine	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0003413	Atlantoaxial abnormality	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0003416	Spinal canal stenosis	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0005107	Abnormal sacrum morphology	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0005108	Abnormal intervertebral disk morphology	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0008518	Aplasia/Hypoplasia involving the vertebral column	http://purl.obolibrary.org/obo/HP_0009122	Aplasia/hypoplasia affecting bones of the axial skeleton		
http://purl.obolibrary.org/obo/HP_0008519	Abnormal coccyx morphology	http://purl.obolibrary.org/obo/HP_0002644	Abnormal pelvic girdle bone morphology		
http://purl.obolibrary.org/obo/HP_0010674	Abnormal curvature of the vertebral column	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0008423	Spinal dysplasia	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0008443	Neuropathic spinal arthropathy	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0100712	Abnormal lumbar spine morphology	http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column		
http://purl.obolibrary.org/obo/HP_0002750	Delayed skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927	Abnormality of skeletal maturation		
http://purl.obolibrary.org/obo/HP_0005616	Accelerated skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927	Abnormality of skeletal maturation		
http://purl.obolibrary.org/obo/HP_0000235	Abnormal cranial suture/fontanelle morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0000240	Abnormality of skull size	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0000264	Abnormal mastoid morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0002679	Abnormal sella turcica morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0002693	Abnormal skull base morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0002699	Abnormal foramen magnum morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0002703	Abnormality of skull ossification	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0009116	Aplasia/Hypoplasia involving bones of the skull	http://purl.obolibrary.org/obo/HP_0009122	Aplasia/hypoplasia affecting bones of the axial skeleton		
http://purl.obolibrary.org/obo/HP_0009911	Abnormal temporal bone morphology	http://purl.obolibrary.org/obo/HP_0000929	Abnormal skull morphology		
http://purl.obolibrary.org/obo/HP_0005445	Enlarged posterior fossa	http://purl.obolibrary.org/obo/HP_0000932	Abnormal posterior cranial fossa morphology		
http://purl.obolibrary.org/obo/HP_0010558	Abnormality of the clivus	http://purl.obolibrary.org/obo/HP_0000932	Abnormal posterior cranial fossa morphology		
http://purl.obolibrary.org/obo/HP_0000941	Short diaphyses	http://purl.obolibrary.org/obo/HP_0000940	Abnormal diaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003034	Diaphyseal sclerosis	http://purl.obolibrary.org/obo/HP_0006392	Increased density of long bones		
http://purl.obolibrary.org/obo/HP_0006487	Bowing of the long bones	http://purl.obolibrary.org/obo/HP_0000940	Abnormal diaphysis morphology		
http://purl.obolibrary.org/obo/HP_0009808	Anomaly of the upper limb diaphyses	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0006440	Increased density of long bone diaphyses	http://purl.obolibrary.org/obo/HP_0006392	Increased density of long bones		
http://purl.obolibrary.org/obo/HP_0006470	Thin long bone diaphyses	http://purl.obolibrary.org/obo/HP_0000940	Abnormal diaphysis morphology		
http://purl.obolibrary.org/obo/HP_0012699	Anomaly of lower limb diaphyses	http://purl.obolibrary.org/obo/HP_0000940	Abnormal diaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003016	Metaphyseal widening	http://purl.obolibrary.org/obo/HP_0000944	Abnormal metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003051	Enlarged metaphyses	http://purl.obolibrary.org/obo/HP_0000944	Abnormal metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0009809	Abnormal upper limb metaphysis morphology	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0100255	Metaphyseal dysplasia	http://purl.obolibrary.org/obo/HP_0002652	Skeletal dysplasia		
http://purl.obolibrary.org/obo/HP_0004979	Metaphyseal sclerosis	http://purl.obolibrary.org/obo/HP_0000944	Abnormal metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0006490	Abnormal lower-limb metaphysis morphology	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0100866	Short iliac bones	http://purl.obolibrary.org/obo/HP_0000946	Hypoplastic ilia		
http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology	http://purl.obolibrary.org/obo/HP_0000951	Abnormality of the skin		
http://purl.obolibrary.org/obo/HP_0011122	Abnormality of skin physiology	http://purl.obolibrary.org/obo/HP_0000951	Abnormality of the skin		
http://purl.obolibrary.org/obo/HP_0007400	Irregular hyperpigmentation	http://purl.obolibrary.org/obo/HP_0000953	Hyperpigmentation of the skin		
http://purl.obolibrary.org/obo/HP_0007440	Generalized hyperpigmentation	http://purl.obolibrary.org/obo/HP_0000953	Hyperpigmentation of the skin		
http://purl.obolibrary.org/obo/HP_0007500	Decreased number of sweat glands	http://purl.obolibrary.org/obo/HP_0000971	Abnormal sweat gland morphology		
http://purl.obolibrary.org/obo/HP_0011135	Aplasia/Hypoplasia of the sweat glands	http://purl.obolibrary.org/obo/HP_0000971	Abnormal sweat gland morphology		
http://purl.obolibrary.org/obo/HP_0001114	Xanthelasma	http://purl.obolibrary.org/obo/HP_0010732	Nodular changes affecting the eyelids		
http://purl.obolibrary.org/obo/HP_0007537	Severe photosensitivity	http://purl.obolibrary.org/obo/HP_0000992	Cutaneous photosensitivity		
http://purl.obolibrary.org/obo/HP_0009003	Increased subcutaneous truncal adipose tissue	http://purl.obolibrary.org/obo/HP_0009126	Increased adipose tissue		
http://purl.obolibrary.org/obo/HP_0000952	Jaundice	http://purl.obolibrary.org/obo/HP_0001396	Cholestasis		
http://purl.obolibrary.org/obo/HP_0009889	Localized hirsutism	http://purl.obolibrary.org/obo/HP_0001007	Hirsutism		
http://purl.obolibrary.org/obo/HP_0007513	Generalized hypopigmentation	http://purl.obolibrary.org/obo/HP_0001010	Hypopigmentation of the skin		
http://purl.obolibrary.org/obo/HP_0200098	Absent skin pigmentation	http://purl.obolibrary.org/obo/HP_0001010	Hypopigmentation of the skin		
http://purl.obolibrary.org/obo/HP_0011368	Epidermal thickening	http://purl.obolibrary.org/obo/HP_0001072	Thickened skin		
http://purl.obolibrary.org/obo/HP_0100324	Scleroderma	http://purl.obolibrary.org/obo/HP_0001072	Thickened skin		
http://purl.obolibrary.org/obo/HP_0012439	Abnormal biliary tract physiology	http://purl.obolibrary.org/obo/HP_0001080	Biliary tract abnormality		
http://purl.obolibrary.org/obo/HP_0012440	Abnormal biliary tract morphology	http://purl.obolibrary.org/obo/HP_0001080	Biliary tract abnormality		
http://purl.obolibrary.org/obo/HP_0001097	Keratoconjunctivitis sicca	http://purl.obolibrary.org/obo/HP_0001096	Keratoconjunctivitis		
http://purl.obolibrary.org/obo/HP_0000479	Abnormal retinal morphology	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		
http://purl.obolibrary.org/obo/HP_0000587	Abnormal optic nerve morphology	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		
http://purl.obolibrary.org/obo/HP_0030824	Mizuo phenomenon	http://purl.obolibrary.org/obo/HP_0001098	Abnormal fundus morphology		
http://purl.obolibrary.org/obo/HP_0001116	Macular pseudocoloboma	http://purl.obolibrary.org/obo/HP_0001103	Abnormal macular morphology		
http://purl.obolibrary.org/obo/HP_0008059	Aplasia/Hypoplasia of the macula	http://purl.obolibrary.org/obo/HP_0008061	Aplasia/Hypoplasia of the retina		
http://purl.obolibrary.org/obo/HP_0007754	Macular dystrophy	http://purl.obolibrary.org/obo/HP_0001103	Abnormal macular morphology		
http://purl.obolibrary.org/obo/HP_0008002	Abnormal macular pigmentation	http://purl.obolibrary.org/obo/HP_0001103	Abnormal macular morphology		
http://purl.obolibrary.org/obo/HP_0007722	Retinal pigment epithelial atrophy	http://purl.obolibrary.org/obo/HP_0001105	Retinal atrophy		
http://purl.obolibrary.org/obo/HP_0000482	Microcornea	http://purl.obolibrary.org/obo/HP_0001120	Abnormality of corneal size		
http://purl.obolibrary.org/obo/HP_0000485	Megalocornea	http://purl.obolibrary.org/obo/HP_0001120	Abnormality of corneal size		
http://purl.obolibrary.org/obo/HP_0009915	Corneal asymmetry	http://purl.obolibrary.org/obo/HP_0001120	Abnormality of corneal size		
http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology	http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology		
http://purl.obolibrary.org/obo/HP_0001421	Abnormality of the musculature of the hand	http://purl.obolibrary.org/obo/HP_0001446	Abnormality of the musculature of the upper limbs		
http://purl.obolibrary.org/obo/HP_0005922	Abnormal hand morphology	http://purl.obolibrary.org/obo/HP_0001155	Abnormality of the hand		
http://purl.obolibrary.org/obo/HP_0100871	Abnormal palm morphology	http://purl.obolibrary.org/obo/HP_0001155	Abnormality of the hand		
http://purl.obolibrary.org/obo/HP_0009473	Joint contracture of the hand	http://purl.obolibrary.org/obo/HP_0100360	Upper-limb joint contracture		
http://purl.obolibrary.org/obo/HP_0006256	Abnormality of hand joint mobility	http://purl.obolibrary.org/obo/HP_0011729	Abnormality of joint mobility		
http://purl.obolibrary.org/obo/HP_0009370	Type A brachydactyly	http://purl.obolibrary.org/obo/HP_0001156	Brachydactyly		
http://purl.obolibrary.org/obo/HP_0001162	Postaxial hand polydactyly	http://purl.obolibrary.org/obo/HP_0004207	Abnormal 5th finger morphology		
http://purl.obolibrary.org/obo/HP_0001177	Preaxial hand polydactyly	http://purl.obolibrary.org/obo/HP_0100258	Preaxial polydactyly		
http://purl.obolibrary.org/obo/HP_0006159	Mesoaxial hand polydactyly	http://purl.obolibrary.org/obo/HP_0100260	Mesoaxial polydactyly		
http://purl.obolibrary.org/obo/HP_0001500	Broad finger	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		
http://purl.obolibrary.org/obo/HP_0100807	Long fingers	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		
http://purl.obolibrary.org/obo/HP_0004207	Abnormal 5th finger morphology	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		
http://purl.obolibrary.org/obo/HP_0004095	Curved fingers	http://purl.obolibrary.org/obo/HP_0005922	Abnormal hand morphology		
http://purl.obolibrary.org/obo/HP_0004100	Abnormal 2nd finger morphology	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		
http://purl.obolibrary.org/obo/HP_0004150	Abnormal 3rd finger morphology	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		
http://purl.obolibrary.org/obo/HP_0004188	Abnormal 4th finger morphology	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		
http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology	http://purl.obolibrary.org/obo/HP_0001167	Abnormal finger morphology		
http://purl.obolibrary.org/obo/HP_0006265	Aplasia/Hypoplasia of fingers	http://purl.obolibrary.org/obo/HP_0005927	Aplasia/hypoplasia involving bones of the hand		
http://purl.obolibrary.org/obo/HP_0034681	Finger joint contracture	http://purl.obolibrary.org/obo/HP_0009473	Joint contracture of the hand		
http://purl.obolibrary.org/obo/HP_0009599	Abnormality of thumb epiphysis	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009600	Thumb contracture	http://purl.obolibrary.org/obo/HP_0001172	Abnormal thumb morphology		
http://purl.obolibrary.org/obo/HP_0009601	Aplasia/Hypoplasia of the thumb	http://purl.obolibrary.org/obo/HP_0006265	Aplasia/Hypoplasia of fingers		
http://purl.obolibrary.org/obo/HP_0009602	Abnormality of thumb phalanx	http://purl.obolibrary.org/obo/HP_0001172	Abnormal thumb morphology		
http://purl.obolibrary.org/obo/HP_0001495	Carpal osteolysis	http://purl.obolibrary.org/obo/HP_0045039	Osteolysis involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0004259	Abnormal hamate bone morphology	http://purl.obolibrary.org/obo/HP_0001191	Abnormal carpal morphology		
http://purl.obolibrary.org/obo/HP_0006257	Abnormality of carpal bone ossification	http://purl.obolibrary.org/obo/HP_0010660	Abnormal hand bone ossification		
http://purl.obolibrary.org/obo/HP_0006502	Aplasia/Hypoplasia involving the carpal bones	http://purl.obolibrary.org/obo/HP_0005927	Aplasia/hypoplasia involving bones of the hand		
http://purl.obolibrary.org/obo/HP_0009702	Carpal synostosis	http://purl.obolibrary.org/obo/HP_0100266	Synostosis of carpals/tarsals		
http://purl.obolibrary.org/obo/HP_0004232	Accessory carpal bones	http://purl.obolibrary.org/obo/HP_0004275	Duplication of hand bones		
http://purl.obolibrary.org/obo/HP_0006014	Abnormally shaped carpal bones	http://purl.obolibrary.org/obo/HP_0001191	Abnormal carpal morphology		
http://purl.obolibrary.org/obo/HP_0010881	Abnormality of the umbilical cord	http://purl.obolibrary.org/obo/HP_0001194	Abnormalities of placenta or umbilical cord		
http://purl.obolibrary.org/obo/HP_0100767	Abnormal placenta morphology	http://purl.obolibrary.org/obo/HP_0001194	Abnormalities of placenta or umbilical cord		
http://purl.obolibrary.org/obo/HP_0001194	Abnormalities of placenta or umbilical cord	http://purl.obolibrary.org/obo/HP_0001197	Abnormality of prenatal development or birth		
http://purl.obolibrary.org/obo/HP_0001560	Abnormality of the amniotic fluid	http://purl.obolibrary.org/obo/HP_0001197	Abnormality of prenatal development or birth		
http://purl.obolibrary.org/obo/HP_0001622	Premature birth	http://purl.obolibrary.org/obo/HP_0001197	Abnormality of prenatal development or birth		
http://purl.obolibrary.org/obo/HP_0001787	Abnormal delivery	http://purl.obolibrary.org/obo/HP_0001197	Abnormality of prenatal development or birth		
http://purl.obolibrary.org/obo/HP_0009244	Distal fifth finger symphalangism	http://purl.obolibrary.org/obo/HP_0004225	Abnormality of the distal phalanx of the 5th finger		
http://purl.obolibrary.org/obo/HP_0009305	Distal fourth finger symphalangism	http://purl.obolibrary.org/obo/HP_0009282	Abnormality of the distal phalanx of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009426	Distal third finger symphalangism	http://purl.obolibrary.org/obo/HP_0009445	Third finger symphalangism		
http://purl.obolibrary.org/obo/HP_0009563	Distal second finger symphalangism	http://purl.obolibrary.org/obo/HP_0009545	Second finger symphalangism		
http://purl.obolibrary.org/obo/HP_0011300	Broad fingertip	http://purl.obolibrary.org/obo/HP_0001211	Abnormal fingertip morphology		
http://purl.obolibrary.org/obo/HP_0004246	Delayed ossification of the scaphoid	http://purl.obolibrary.org/obo/HP_0045003	Abnormal ossification of the scaphoid		
http://purl.obolibrary.org/obo/HP_0100490	Camptodactyly of finger	http://purl.obolibrary.org/obo/HP_0006261	Abnormal phalangeal joint morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009626	Interphalangeal thumb joint contracture	http://purl.obolibrary.org/obo/HP_0009600	Thumb contracture		
http://purl.obolibrary.org/obo/HP_0009697	Contracture of the distal interphalangeal joint of the fingers	http://purl.obolibrary.org/obo/HP_0001220	Interphalangeal joint contracture of finger		
http://purl.obolibrary.org/obo/HP_0010027	Broad 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010009	Abnormal 1st metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0001804	Hypoplastic fingernail	http://purl.obolibrary.org/obo/HP_0001792	Small nail		
http://purl.obolibrary.org/obo/HP_0008391	Dystrophic fingernails	http://purl.obolibrary.org/obo/HP_0008404	Nail dystrophy		
http://purl.obolibrary.org/obo/HP_0012742	Thin fingernail	http://purl.obolibrary.org/obo/HP_0001816	Thin nail		
http://purl.obolibrary.org/obo/HP_0002070	Limb ataxia	http://purl.obolibrary.org/obo/HP_0001251	Ataxia		
http://purl.obolibrary.org/obo/HP_0002078	Truncal ataxia	http://purl.obolibrary.org/obo/HP_0001251	Ataxia		
http://purl.obolibrary.org/obo/HP_0002066	Gait ataxia	http://purl.obolibrary.org/obo/HP_0001288	Gait disturbance		
http://purl.obolibrary.org/obo/HP_0002501	Spasticity of pharyngeal muscles	http://purl.obolibrary.org/obo/HP_0001257	Spasticity		
http://purl.obolibrary.org/obo/HP_0002600	Hyporeflexia of lower limbs	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0012391	Hyporeflexia of upper limbs	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0012392	Jaw hyporeflexia	http://purl.obolibrary.org/obo/HP_0045037	Abnormality of jaw muscles		
http://purl.obolibrary.org/obo/HP_0000726	Dementia	http://purl.obolibrary.org/obo/HP_0001268	Mental deterioration		
http://purl.obolibrary.org/obo/HP_0002344	Progressive neurologic deterioration	http://purl.obolibrary.org/obo/HP_0001268	Mental deterioration		
http://purl.obolibrary.org/obo/HP_0006855	Cerebellar vermis atrophy	http://purl.obolibrary.org/obo/HP_0002334	Abnormal cerebellar vermis morphology		
http://purl.obolibrary.org/obo/HP_0008278	Cerebellar cortical atrophy	http://purl.obolibrary.org/obo/HP_0001272	Cerebellar atrophy		
http://purl.obolibrary.org/obo/HP_0006989	Dysplastic corpus callosum	http://purl.obolibrary.org/obo/HP_0001273	Abnormal corpus callosum morphology		
http://purl.obolibrary.org/obo/HP_0007074	Thick corpus callosum	http://purl.obolibrary.org/obo/HP_0001273	Abnormal corpus callosum morphology		
http://purl.obolibrary.org/obo/HP_0200011	Abnormal length of corpus callosum	http://purl.obolibrary.org/obo/HP_0001273	Abnormal corpus callosum morphology		
http://purl.obolibrary.org/obo/HP_0033725	Thin corpus callosum	http://purl.obolibrary.org/obo/HP_0001273	Abnormal corpus callosum morphology		
http://purl.obolibrary.org/obo/HP_0002522	Areflexia of lower limbs	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0012046	Areflexia of upper limbs	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0001293	Cranial nerve compression	http://purl.obolibrary.org/obo/HP_0001291	Abnormal cranial nerve morphology		
http://purl.obolibrary.org/obo/HP_0009591	Abnormal vestibulocochlear nerve morphology	http://purl.obolibrary.org/obo/HP_0001291	Abnormal cranial nerve morphology		
http://purl.obolibrary.org/obo/HP_0010824	Abnormal fifth cranial nerve morphology	http://purl.obolibrary.org/obo/HP_0001291	Abnormal cranial nerve morphology		
http://purl.obolibrary.org/obo/HP_0010825	Abnormality of the eleventh cranial nerve	http://purl.obolibrary.org/obo/HP_0001291	Abnormal cranial nerve morphology		
http://purl.obolibrary.org/obo/HP_0011348	Abnormal sixth cranial nerve morphology	http://purl.obolibrary.org/obo/HP_0001291	Abnormal cranial nerve morphology		
http://purl.obolibrary.org/obo/HP_0002140	Ischemic stroke	http://purl.obolibrary.org/obo/HP_0025722	Cerebral infarct		
http://purl.obolibrary.org/obo/HP_0002480	Hepatic encephalopathy	http://purl.obolibrary.org/obo/HP_0001298	Encephalopathy		
http://purl.obolibrary.org/obo/HP_0006789	Mitochondrial encephalopathy	http://purl.obolibrary.org/obo/HP_0001298	Encephalopathy		
http://purl.obolibrary.org/obo/HP_0001265	Hyporeflexia	http://purl.obolibrary.org/obo/HP_0001315	Reduced tendon reflexes		
http://purl.obolibrary.org/obo/HP_0001284	Areflexia	http://purl.obolibrary.org/obo/HP_0001315	Reduced tendon reflexes		
http://purl.obolibrary.org/obo/HP_0001272	Cerebellar atrophy	http://purl.obolibrary.org/obo/HP_0001317	Abnormal cerebellum morphology		
http://purl.obolibrary.org/obo/HP_0002334	Abnormal cerebellar vermis morphology	http://purl.obolibrary.org/obo/HP_0001317	Abnormal cerebellum morphology		
http://purl.obolibrary.org/obo/HP_0002350	Cerebellar cyst	http://purl.obolibrary.org/obo/HP_0010576	Intracranial cystic lesion		
http://purl.obolibrary.org/obo/HP_0007352	Cerebellar calcifications	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0007360	Aplasia/Hypoplasia of the cerebellum	http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system		
http://purl.obolibrary.org/obo/HP_0007033	Cerebellar dysplasia	http://purl.obolibrary.org/obo/HP_0001317	Abnormal cerebellum morphology		
http://purl.obolibrary.org/obo/HP_0012081	Enlarged cerebellum	http://purl.obolibrary.org/obo/HP_0001317	Abnormal cerebellum morphology		
http://purl.obolibrary.org/obo/HP_0001305	Dandy-Walker malformation	http://purl.obolibrary.org/obo/HP_0005445	Enlarged posterior fossa		
http://purl.obolibrary.org/obo/HP_0001320	Cerebellar vermis hypoplasia	http://purl.obolibrary.org/obo/HP_0006817	Aplasia/Hypoplasia of the cerebellar vermis		
http://purl.obolibrary.org/obo/HP_0010522	Dyslexia	http://purl.obolibrary.org/obo/HP_0001328	Specific learning disability		
http://purl.obolibrary.org/obo/HP_0012323	Sleep myoclonus	http://purl.obolibrary.org/obo/HP_0001336	Myoclonus		
http://purl.obolibrary.org/obo/HP_0045084	Limb myoclonus	http://purl.obolibrary.org/obo/HP_0001336	Myoclonus		
http://purl.obolibrary.org/obo/HP_0002345	Action tremor	http://purl.obolibrary.org/obo/HP_0001337	Tremor		
http://purl.obolibrary.org/obo/HP_0030188	Tremor by anatomical site	http://purl.obolibrary.org/obo/HP_0001337	Tremor		
http://purl.obolibrary.org/obo/HP_0001386	Joint swelling	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0003037	Enlarged joints	http://purl.obolibrary.org/obo/HP_0001367	Abnormal joint morphology		
http://purl.obolibrary.org/obo/HP_0009810	Abnormality of upper limb joint	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0100240	Synostosis of joints	http://purl.obolibrary.org/obo/HP_0011729	Abnormality of joint mobility		
http://purl.obolibrary.org/obo/HP_0100491	Abnormality of lower limb joint	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0001369	Arthritis	http://purl.obolibrary.org/obo/HP_0001367	Abnormal joint morphology		
http://purl.obolibrary.org/obo/HP_0001373	Joint dislocation	http://purl.obolibrary.org/obo/HP_0001367	Abnormal joint morphology		
http://purl.obolibrary.org/obo/HP_0005262	Abnormal synovial membrane morphology	http://purl.obolibrary.org/obo/HP_0001367	Abnormal joint morphology		
http://purl.obolibrary.org/obo/HP_0100781	Abnormal sacroiliac joint morphology	http://purl.obolibrary.org/obo/HP_0005107	Abnormal sacrum morphology		
http://purl.obolibrary.org/obo/HP_0001387	Joint stiffness	http://purl.obolibrary.org/obo/HP_0001376	Limitation of joint mobility		
http://purl.obolibrary.org/obo/HP_0002827	Hip dislocation	http://purl.obolibrary.org/obo/HP_0030311	Lower extremity joint dislocation		
http://purl.obolibrary.org/obo/HP_0003170	Abnormal acetabulum morphology	http://purl.obolibrary.org/obo/HP_0001384	Abnormal hip joint morphology		
http://purl.obolibrary.org/obo/HP_0003273	Hip contracture	http://purl.obolibrary.org/obo/HP_0005750	Lower-limb joint contracture		
http://purl.obolibrary.org/obo/HP_0004297	Abnormality of the biliary system	http://purl.obolibrary.org/obo/HP_0001392	Abnormality of the liver		
http://purl.obolibrary.org/obo/HP_0002612	Congenital hepatic fibrosis	http://purl.obolibrary.org/obo/HP_0001395	Hepatic fibrosis		
http://purl.obolibrary.org/obo/HP_0006554	Acute hepatic failure	http://purl.obolibrary.org/obo/HP_0001399	Hepatic failure		
http://purl.obolibrary.org/obo/HP_0001399	Hepatic failure	http://purl.obolibrary.org/obo/HP_0001410	Decreased liver function		
http://purl.obolibrary.org/obo/HP_0001419	X-linked recessive inheritance	http://purl.obolibrary.org/obo/HP_0001417	X-linked inheritance		
http://purl.obolibrary.org/obo/HP_0001423	X-linked dominant inheritance	http://purl.obolibrary.org/obo/HP_0001417	X-linked inheritance		
http://purl.obolibrary.org/obo/HP_0009130	Hand muscle atrophy	http://purl.obolibrary.org/obo/HP_0007149	Distal upper limb amyotrophy		
http://purl.obolibrary.org/obo/HP_0008962	Calf muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0009004	Hypoplasia of the musculature		
http://purl.obolibrary.org/obo/HP_0008981	Calf muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0008968	Muscle hypertrophy of the lower extremities		
http://purl.obolibrary.org/obo/HP_0009049	Peroneal muscle atrophy	http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy		
http://purl.obolibrary.org/obo/HP_0001464	Aplasia/Hypoplasia involving the shoulder musculature	http://purl.obolibrary.org/obo/HP_0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs		
http://purl.obolibrary.org/obo/HP_0001465	Amyotrophy involving the shoulder musculature	http://purl.obolibrary.org/obo/HP_0001435	Abnormality of the shoulder girdle musculature		
http://purl.obolibrary.org/obo/HP_0003547	Shoulder girdle muscle weakness	http://purl.obolibrary.org/obo/HP_0003325	Limb-girdle muscle weakness		
http://purl.obolibrary.org/obo/HP_0001430	Abnormal calf musculature morphology	http://purl.obolibrary.org/obo/HP_0001437	Abnormality of the musculature of the lower limbs		
http://purl.obolibrary.org/obo/HP_0001436	Abnormality of the foot musculature	http://purl.obolibrary.org/obo/HP_0001437	Abnormality of the musculature of the lower limbs		
http://purl.obolibrary.org/obo/HP_0001441	Abnormality thigh musculature morphology	http://purl.obolibrary.org/obo/HP_0001437	Abnormality of the musculature of the lower limbs		
http://purl.obolibrary.org/obo/HP_0008968	Muscle hypertrophy of the lower extremities	http://purl.obolibrary.org/obo/HP_0003712	Skeletal muscle hypertrophy		
http://purl.obolibrary.org/obo/HP_0008969	Leg muscle stiffness	http://purl.obolibrary.org/obo/HP_0003552	Muscle stiffness		
http://purl.obolibrary.org/obo/HP_0001541	Ascites	http://purl.obolibrary.org/obo/HP_0001438	Abnormal abdomen morphology		
http://purl.obolibrary.org/obo/HP_0003271	Visceromegaly	http://purl.obolibrary.org/obo/HP_0001438	Abnormal abdomen morphology		
http://purl.obolibrary.org/obo/HP_0008956	Proximal lower limb amyotrophy	http://purl.obolibrary.org/obo/HP_0007126	Proximal amyotrophy		
http://purl.obolibrary.org/obo/HP_0009786	Aplasia/Hypoplasia of the musculature of the thigh	http://purl.obolibrary.org/obo/HP_0009128	Aplasia/Hypoplasia involving the musculature of the extremities		
http://purl.obolibrary.org/obo/HP_0008988	Pelvic girdle muscle atrophy	http://purl.obolibrary.org/obo/HP_0001471	Aplasia/Hypoplasia of the musculature of the pelvis		
http://purl.obolibrary.org/obo/HP_0001435	Abnormality of the shoulder girdle musculature	http://purl.obolibrary.org/obo/HP_0001446	Abnormality of the musculature of the upper limbs		
http://purl.obolibrary.org/obo/HP_0001457	Abnormality of the musculature of the upper arm	http://purl.obolibrary.org/obo/HP_0001454	Abnormality of the upper arm		
http://purl.obolibrary.org/obo/HP_0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	http://purl.obolibrary.org/obo/HP_0009128	Aplasia/Hypoplasia involving the musculature of the extremities		
http://purl.obolibrary.org/obo/HP_0009129	Upper limb amyotrophy	http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy		
http://purl.obolibrary.org/obo/HP_0200049	Upper limb hypertonia	http://purl.obolibrary.org/obo/HP_0002509	Limb hypertonia		
http://purl.obolibrary.org/obo/HP_0010075	Duplication of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010054	Abnormality of the first metatarsal bone		
http://purl.obolibrary.org/obo/HP_0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	http://purl.obolibrary.org/obo/HP_0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs		
http://purl.obolibrary.org/obo/HP_0008948	Proximal upper limb amyotrophy	http://purl.obolibrary.org/obo/HP_0007126	Proximal amyotrophy		
http://purl.obolibrary.org/obo/HP_0009128	Aplasia/Hypoplasia involving the musculature of the extremities	http://purl.obolibrary.org/obo/HP_0009127	Abnormality of the musculature of the limbs		
http://purl.obolibrary.org/obo/HP_0100854	Aplasia of the musculature	http://purl.obolibrary.org/obo/HP_0001460	Aplasia/Hypoplasia involving the skeletal musculature		
http://purl.obolibrary.org/obo/HP_0009004	Hypoplasia of the musculature	http://purl.obolibrary.org/obo/HP_0001460	Aplasia/Hypoplasia involving the skeletal musculature		
http://purl.obolibrary.org/obo/HP_0008952	Shoulder muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0009004	Hypoplasia of the musculature		
http://purl.obolibrary.org/obo/HP_0009016	Upper limb muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0009004	Hypoplasia of the musculature		
http://purl.obolibrary.org/obo/HP_0009782	Aplasia/Hypoplasia of the biceps	http://purl.obolibrary.org/obo/HP_0001468	Aplasia/Hypoplasia involving the musculature of the upper arm		
http://purl.obolibrary.org/obo/HP_0009784	Aplasia/Hypoplasia of the triceps	http://purl.obolibrary.org/obo/HP_0001468	Aplasia/Hypoplasia involving the musculature of the upper arm		
http://purl.obolibrary.org/obo/HP_0001445	Abnormality of the hip-girdle musculature	http://purl.obolibrary.org/obo/HP_0001469	Abnormal morphology of the pelvis musculature		
http://purl.obolibrary.org/obo/HP_0001471	Aplasia/Hypoplasia of the musculature of the pelvis	http://purl.obolibrary.org/obo/HP_0001469	Abnormal morphology of the pelvis musculature		
http://purl.obolibrary.org/obo/HP_0010071	Osteolytic defects of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010062	Osteolytic defects of the phalanges of the hallux		
http://purl.obolibrary.org/obo/HP_0004247	Small scaphoid	http://purl.obolibrary.org/obo/HP_0004243	Abnormal scaphoid morphology		
http://purl.obolibrary.org/obo/HP_0009768	Broad phalanges of the hand	http://purl.obolibrary.org/obo/HP_0040070	Abnormal upper limb bone morphology		
http://purl.obolibrary.org/obo/HP_0010030	Osteolytic defects of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010009	Abnormal 1st metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0000002	Abnormality of body height	http://purl.obolibrary.org/obo/HP_0001507	Growth abnormality		
http://purl.obolibrary.org/obo/HP_0004323	Abnormality of body weight	http://purl.obolibrary.org/obo/HP_0001507	Growth abnormality		
http://purl.obolibrary.org/obo/HP_0100555	Asymmetric growth	http://purl.obolibrary.org/obo/HP_0001507	Growth abnormality		
http://purl.obolibrary.org/obo/HP_0001510	Growth delay	http://purl.obolibrary.org/obo/HP_0001507	Growth abnormality		
http://purl.obolibrary.org/obo/HP_0100553	Hemihypertrophy of lower limb	http://purl.obolibrary.org/obo/HP_0100559	Lower limb asymmetry		
http://purl.obolibrary.org/obo/HP_0100554	Hemihypertrophy of upper limb	http://purl.obolibrary.org/obo/HP_0100560	Upper limb asymmetry		
http://purl.obolibrary.org/obo/HP_0001791	Fetal ascites	http://purl.obolibrary.org/obo/HP_0034207	Abnormal fetal gastrointestinal system morphology		
http://purl.obolibrary.org/obo/HP_0000772	Abnormal rib morphology	http://purl.obolibrary.org/obo/HP_0001547	Abnormal rib cage morphology		
http://purl.obolibrary.org/obo/HP_0000886	Deformed rib cage	http://purl.obolibrary.org/obo/HP_0001547	Abnormal rib cage morphology		
http://purl.obolibrary.org/obo/HP_0001555	Asymmetry of the thorax	http://purl.obolibrary.org/obo/HP_0001547	Abnormal rib cage morphology		
http://purl.obolibrary.org/obo/HP_0100625	Enlarged thorax	http://purl.obolibrary.org/obo/HP_0001547	Abnormal rib cage morphology		
http://purl.obolibrary.org/obo/HP_0006644	Thoracic dysplasia	http://purl.obolibrary.org/obo/HP_0001547	Abnormal rib cage morphology		
http://purl.obolibrary.org/obo/HP_0011102	Ileal atresia	http://purl.obolibrary.org/obo/HP_0011100	Intestinal atresia		
http://purl.obolibrary.org/obo/HP_0001537	Umbilical hernia	http://purl.obolibrary.org/obo/HP_0004299	Hernia of the abdominal wall		
http://purl.obolibrary.org/obo/HP_0001558	Decreased fetal movement	http://purl.obolibrary.org/obo/HP_0001557	Prenatal movement abnormality		
http://purl.obolibrary.org/obo/HP_0001561	Polyhydramnios	http://purl.obolibrary.org/obo/HP_0001560	Abnormality of the amniotic fluid		
http://purl.obolibrary.org/obo/HP_0000951	Abnormality of the skin	http://purl.obolibrary.org/obo/HP_0001574	Abnormality of the integument		
http://purl.obolibrary.org/obo/HP_0011138	Abnormal skin adnexa morphology	http://purl.obolibrary.org/obo/HP_0001574	Abnormality of the integument		
http://purl.obolibrary.org/obo/HP_0005406	Recurrent bacterial skin infections	http://purl.obolibrary.org/obo/HP_0002718	Recurrent bacterial infections		
http://purl.obolibrary.org/obo/HP_0000534	Abnormal eyebrow morphology	http://purl.obolibrary.org/obo/HP_0030669	Abnormal ocular adnexa morphology		
http://purl.obolibrary.org/obo/HP_0002552	Trichodysplasia	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0009887	Abnormality of hair pigmentation	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0010719	Abnormality of hair texture	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0100037	Abnormality of the scalp hair	http://purl.obolibrary.org/obo/HP_0001965	Abnormal scalp morphology		
http://purl.obolibrary.org/obo/HP_0009888	Abnormality of secondary sexual hair	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0010720	Abnormal hair pattern	http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology		
http://purl.obolibrary.org/obo/HP_0001231	Abnormal fingernail morphology	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0001805	Onychogryphosis	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0001816	Thin nail	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0008386	Aplasia/Hypoplasia of the nails	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0008388	Abnormal toenail morphology	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0008404	Nail dystrophy	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0100643	Abnormality of nail color	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0002164	Nail dysplasia	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0009723	Abnormal subungual morphology	http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology		
http://purl.obolibrary.org/obo/HP_0001604	Vocal cord paresis	http://purl.obolibrary.org/obo/HP_0001605	Vocal cord paralysis		
http://purl.obolibrary.org/obo/HP_0001686	Loss of voice	http://purl.obolibrary.org/obo/HP_0001608	Abnormality of the voice		
http://purl.obolibrary.org/obo/HP_0001609	Hoarse voice	http://purl.obolibrary.org/obo/HP_0001608	Abnormality of the voice		
http://purl.obolibrary.org/obo/HP_0002597	Abnormality of the vasculature	http://purl.obolibrary.org/obo/HP_0001626	Abnormality of the cardiovascular system		
http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology	http://purl.obolibrary.org/obo/HP_0001626	Abnormality of the cardiovascular system		
http://purl.obolibrary.org/obo/HP_0001640	Cardiomegaly	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0001654	Abnormal heart valve morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0001671	Abnormal cardiac septum morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0001697	Abnormal pericardium morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0001713	Abnormal cardiac ventricle morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0004306	Abnormal endocardium morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0005120	Abnormal cardiac atrium morphology	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0011545	Abnormal connection of the cardiac segments	http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology		
http://purl.obolibrary.org/obo/HP_0001634	Mitral valve prolapse	http://purl.obolibrary.org/obo/HP_0001633	Abnormal mitral valve morphology		
http://purl.obolibrary.org/obo/HP_0025523	Abnormal morphology of the chordae tendinae of the mitral valve	http://purl.obolibrary.org/obo/HP_0001633	Abnormal mitral valve morphology		
http://purl.obolibrary.org/obo/HP_0004382	Mitral valve calcification	http://purl.obolibrary.org/obo/HP_0005146	Cardiac valve calcification		
http://purl.obolibrary.org/obo/HP_0011560	Mitral atresia	http://purl.obolibrary.org/obo/HP_0011546	Abnormal atrioventricular connection		
http://purl.obolibrary.org/obo/HP_0001638	Cardiomyopathy	http://purl.obolibrary.org/obo/HP_0001637	Abnormal myocardium morphology		
http://purl.obolibrary.org/obo/HP_0001685	Myocardial fibrosis	http://purl.obolibrary.org/obo/HP_0001637	Abnormal myocardium morphology		
http://purl.obolibrary.org/obo/HP_0001700	Myocardial necrosis	http://purl.obolibrary.org/obo/HP_0001637	Abnormal myocardium morphology		
http://purl.obolibrary.org/obo/HP_0012819	Myocarditis	http://purl.obolibrary.org/obo/HP_0001637	Abnormal myocardium morphology		
http://purl.obolibrary.org/obo/HP_0001644	Dilated cardiomyopathy	http://purl.obolibrary.org/obo/HP_0001638	Cardiomyopathy		
http://purl.obolibrary.org/obo/HP_0005152	Histiocytoid cardiomyopathy	http://purl.obolibrary.org/obo/HP_0001638	Cardiomyopathy		
http://purl.obolibrary.org/obo/HP_0005134	Absence of the pulmonary valve	http://purl.obolibrary.org/obo/HP_0001641	Abnormal pulmonary valve morphology		
http://purl.obolibrary.org/obo/HP_0005164	Dysplastic pulmonary valve	http://purl.obolibrary.org/obo/HP_0001641	Abnormal pulmonary valve morphology		
http://purl.obolibrary.org/obo/HP_0010882	Pulmonary valve atresia	http://purl.obolibrary.org/obo/HP_0001641	Abnormal pulmonary valve morphology		
http://purl.obolibrary.org/obo/HP_0004380	Aortic valve calcification	http://purl.obolibrary.org/obo/HP_0005146	Cardiac valve calcification		
http://purl.obolibrary.org/obo/HP_0005176	Dysplastic aortic valve	http://purl.obolibrary.org/obo/HP_0001646	Abnormal aortic valve morphology		
http://purl.obolibrary.org/obo/HP_0010883	Aortic valve atresia	http://purl.obolibrary.org/obo/HP_0001646	Abnormal aortic valve morphology		
http://purl.obolibrary.org/obo/HP_0031567	Abnormal aortic valve cusp morphology	http://purl.obolibrary.org/obo/HP_0001646	Abnormal aortic valve morphology		
http://purl.obolibrary.org/obo/HP_0001641	Abnormal pulmonary valve morphology	http://purl.obolibrary.org/obo/HP_0001654	Abnormal heart valve morphology		
http://purl.obolibrary.org/obo/HP_0001646	Abnormal aortic valve morphology	http://purl.obolibrary.org/obo/HP_0001654	Abnormal heart valve morphology		
http://purl.obolibrary.org/obo/HP_0006705	Abnormal atrioventricular valve morphology	http://purl.obolibrary.org/obo/HP_0001654	Abnormal heart valve morphology		
http://purl.obolibrary.org/obo/HP_0005146	Cardiac valve calcification	http://purl.obolibrary.org/obo/HP_0011915	Cardiovascular calcification		
http://purl.obolibrary.org/obo/HP_0010438	Abnormal ventricular septum morphology	http://purl.obolibrary.org/obo/HP_0001713	Abnormal cardiac ventricle morphology		
http://purl.obolibrary.org/obo/HP_0011994	Abnormal atrial septum morphology	http://purl.obolibrary.org/obo/HP_0001671	Abnormal cardiac septum morphology		
http://purl.obolibrary.org/obo/HP_0006681	Absent atrioventricular node	http://purl.obolibrary.org/obo/HP_0001678	Atrioventricular block		
http://purl.obolibrary.org/obo/HP_0001680	Coarctation of aorta	http://purl.obolibrary.org/obo/HP_0001679	Abnormal aortic morphology		
http://purl.obolibrary.org/obo/HP_0004963	Calcification of the aorta	http://purl.obolibrary.org/obo/HP_0003207	Arterial calcification		
http://purl.obolibrary.org/obo/HP_0012303	Abnormal aortic arch morphology	http://purl.obolibrary.org/obo/HP_0001679	Abnormal aortic morphology		
http://purl.obolibrary.org/obo/HP_0004974	Coarctation of abdominal aorta	http://purl.obolibrary.org/obo/HP_0001680	Coarctation of aorta		
http://purl.obolibrary.org/obo/HP_0001698	Pericardial effusion	http://purl.obolibrary.org/obo/HP_0001697	Abnormal pericardium morphology		
http://purl.obolibrary.org/obo/HP_0001701	Pericarditis	http://purl.obolibrary.org/obo/HP_0045073	Serositis		
http://purl.obolibrary.org/obo/HP_0005132	Pericardial constriction	http://purl.obolibrary.org/obo/HP_0001697	Abnormal pericardium morphology		
http://purl.obolibrary.org/obo/HP_0011628	Congenital defect of the pericardium	http://purl.obolibrary.org/obo/HP_0001697	Abnormal pericardium morphology		
http://purl.obolibrary.org/obo/HP_0001704	Tricuspid valve prolapse	http://purl.obolibrary.org/obo/HP_0001702	Abnormal tricuspid valve morphology		
http://purl.obolibrary.org/obo/HP_0010316	Ebstein anomaly of the tricuspid valve	http://purl.obolibrary.org/obo/HP_0001702	Abnormal tricuspid valve morphology		
http://purl.obolibrary.org/obo/HP_0011573	Hypoplastic tricuspid valve	http://purl.obolibrary.org/obo/HP_0001702	Abnormal tricuspid valve morphology		
http://purl.obolibrary.org/obo/HP_0011662	Tricuspid atresia	http://purl.obolibrary.org/obo/HP_0001702	Abnormal tricuspid valve morphology		
http://purl.obolibrary.org/obo/HP_0001667	Right ventricular hypertrophy	http://purl.obolibrary.org/obo/HP_0001714	Ventricular hypertrophy		
http://purl.obolibrary.org/obo/HP_0004762	Hypoplasia of right ventricle	http://purl.obolibrary.org/obo/HP_0001707	Abnormal right ventricle morphology		
http://purl.obolibrary.org/obo/HP_0001712	Left ventricular hypertrophy	http://purl.obolibrary.org/obo/HP_0001714	Ventricular hypertrophy		
http://purl.obolibrary.org/obo/HP_0011103	Abnormal left ventricular outflow tract morphology	http://purl.obolibrary.org/obo/HP_0001711	Abnormal left ventricle morphology		
http://purl.obolibrary.org/obo/HP_0001707	Abnormal right ventricle morphology	http://purl.obolibrary.org/obo/HP_0001713	Abnormal cardiac ventricle morphology		
http://purl.obolibrary.org/obo/HP_0001711	Abnormal left ventricle morphology	http://purl.obolibrary.org/obo/HP_0001713	Abnormal cardiac ventricle morphology		
http://purl.obolibrary.org/obo/HP_0001714	Ventricular hypertrophy	http://purl.obolibrary.org/obo/HP_0001713	Abnormal cardiac ventricle morphology		
http://purl.obolibrary.org/obo/HP_0006690	Myocardial calcification	http://purl.obolibrary.org/obo/HP_0011915	Cardiovascular calcification		
http://purl.obolibrary.org/obo/HP_0000408	Progressive sensorineural hearing impairment	http://purl.obolibrary.org/obo/HP_0000407	Sensorineural hearing impairment		
http://purl.obolibrary.org/obo/HP_0012090	Abnormal pancreas morphology	http://purl.obolibrary.org/obo/HP_0001732	Abnormality of the pancreas		
http://purl.obolibrary.org/obo/HP_0012091	Abnormality of pancreas physiology	http://purl.obolibrary.org/obo/HP_0001732	Abnormality of the pancreas		
http://purl.obolibrary.org/obo/HP_0001756	Vestibular hyporeflexia	http://purl.obolibrary.org/obo/HP_0001751	Abnormal vestibular function		
http://purl.obolibrary.org/obo/HP_0002321	Vertigo	http://purl.obolibrary.org/obo/HP_0001751	Abnormal vestibular function		
http://purl.obolibrary.org/obo/HP_0008555	Absent vestibular function	http://purl.obolibrary.org/obo/HP_0001756	Vestibular hyporeflexia		
http://purl.obolibrary.org/obo/HP_0001769	Broad foot	http://purl.obolibrary.org/obo/HP_0001760	Abnormal foot morphology		
http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology	http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology		
http://purl.obolibrary.org/obo/HP_0001786	Narrow foot	http://purl.obolibrary.org/obo/HP_0001760	Abnormal foot morphology		
http://purl.obolibrary.org/obo/HP_0001832	Abnormal metatarsal morphology	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0001833	Long foot	http://purl.obolibrary.org/obo/HP_0001760	Abnormal foot morphology		
http://purl.obolibrary.org/obo/HP_0001850	Abnormality of the tarsal bones	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0001854	Podagra	http://purl.obolibrary.org/obo/HP_0001997	Gout		
http://purl.obolibrary.org/obo/HP_0005109	Abnormal Achilles tendon morphology	http://purl.obolibrary.org/obo/HP_0100261	Abnormal tendon morphology		
http://purl.obolibrary.org/obo/HP_0005656	Positional foot deformity	http://purl.obolibrary.org/obo/HP_0001760	Abnormal foot morphology		
http://purl.obolibrary.org/obo/HP_0006494	Aplasia/Hypoplasia involving bones of the feet	http://purl.obolibrary.org/obo/HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0009134	Osteolysis involving bones of the feet	http://purl.obolibrary.org/obo/HP_0009139	Osteolysis involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0009136	Duplication involving bones of the feet	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0009140	Synostosis involving bones of the feet	http://purl.obolibrary.org/obo/HP_0009138	Synostosis involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0100872	Abnormality of the plantar skin of foot	http://purl.obolibrary.org/obo/HP_0011356	Regional abnormality of skin		
http://purl.obolibrary.org/obo/HP_0010507	Foot asymmetry	http://purl.obolibrary.org/obo/HP_0001760	Abnormal foot morphology		
http://purl.obolibrary.org/obo/HP_0010675	Abnormal foot bone ossification	http://purl.obolibrary.org/obo/HP_0003336	Abnormal enchondral ossification		
http://purl.obolibrary.org/obo/HP_0001459	1-3 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0004691	2-3 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0004692	4-5 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0009779	3-4 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0010711	1-2 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0010712	1-4 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0010713	1-5 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0010714	2-4 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0010715	2-5 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0010716	3-5 toe syndactyly	http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly		
http://purl.obolibrary.org/obo/HP_0001770	Toe syndactyly	http://purl.obolibrary.org/obo/HP_0001159	Syndactyly		
http://purl.obolibrary.org/obo/HP_0001829	Foot polydactyly	http://purl.obolibrary.org/obo/HP_0010442	Polydactyly		
http://purl.obolibrary.org/obo/HP_0001837	Broad toe	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0001844	Abnormal hallux morphology	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0001991	Aplasia/Hypoplasia of toe	http://purl.obolibrary.org/obo/HP_0006494	Aplasia/Hypoplasia involving bones of the feet		
http://purl.obolibrary.org/obo/HP_0010322	Abnormal fifth toe morphology	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0010511	Long toe	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0008141	Dislocation of toes	http://purl.obolibrary.org/obo/HP_0030311	Lower extremity joint dislocation		
http://purl.obolibrary.org/obo/HP_0010160	Abnormal toe epiphysis morphology	http://purl.obolibrary.org/obo/HP_0010631	Abnormality of the epiphyses of the feet		
http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0010319	Abnormal second toe morphology	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0010320	Abnormal third toe morphology	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0010321	Abnormal fourth toe morphology	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0010510	Hypermobility of toe joints	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0034675	Toe joint contracture	http://purl.obolibrary.org/obo/HP_0001780	Abnormal toe morphology		
http://purl.obolibrary.org/obo/HP_0010068	Broad first metatarsal	http://purl.obolibrary.org/obo/HP_0010054	Abnormality of the first metatarsal bone		
http://purl.obolibrary.org/obo/HP_0001800	Hypoplastic toenails	http://purl.obolibrary.org/obo/HP_0010624	Aplastic/hypoplastic toenail		
http://purl.obolibrary.org/obo/HP_0001802	Absent toenail	http://purl.obolibrary.org/obo/HP_0010624	Aplastic/hypoplastic toenail		
http://purl.obolibrary.org/obo/HP_0001817	Absent fingernail	http://purl.obolibrary.org/obo/HP_0001798	Anonychia		
http://purl.obolibrary.org/obo/HP_0011937	Hypoplastic fifth toenail	http://purl.obolibrary.org/obo/HP_0001800	Hypoplastic toenails		
http://purl.obolibrary.org/obo/HP_0012555	Absent nail of hallux	http://purl.obolibrary.org/obo/HP_0001802	Absent toenail		
http://purl.obolibrary.org/obo/HP_0200105	Absent fifth toenail	http://purl.obolibrary.org/obo/HP_0001802	Absent toenail		
http://purl.obolibrary.org/obo/HP_0008398	Hypoplastic fifth fingernail	http://purl.obolibrary.org/obo/HP_0001804	Hypoplastic fingernail		
http://purl.obolibrary.org/obo/HP_0012553	Hypoplastic thumbnail	http://purl.obolibrary.org/obo/HP_0001804	Hypoplastic fingernail		
http://purl.obolibrary.org/obo/HP_0008401	Onychogryphosis of toenails	http://purl.obolibrary.org/obo/HP_0001805	Onychogryphosis		
http://purl.obolibrary.org/obo/HP_0012746	Thin toenail	http://purl.obolibrary.org/obo/HP_0008388	Abnormal toenail morphology		
http://purl.obolibrary.org/obo/HP_0012554	Absent thumbnail	http://purl.obolibrary.org/obo/HP_0001817	Absent fingernail		
http://purl.obolibrary.org/obo/HP_0200104	Absent fifth fingernail	http://purl.obolibrary.org/obo/HP_0001817	Absent fingernail		
http://purl.obolibrary.org/obo/HP_0001830	Postaxial foot polydactyly	http://purl.obolibrary.org/obo/HP_0100259	Postaxial polydactyly		
http://purl.obolibrary.org/obo/HP_0001841	Preaxial foot polydactyly	http://purl.obolibrary.org/obo/HP_0100258	Preaxial polydactyly		
http://purl.obolibrary.org/obo/HP_0010112	Mesoaxial foot polydactyly	http://purl.obolibrary.org/obo/HP_0100260	Mesoaxial polydactyly		
http://purl.obolibrary.org/obo/HP_0001885	Short 2nd toe	http://purl.obolibrary.org/obo/HP_0001831	Short toe		
http://purl.obolibrary.org/obo/HP_0003795	Short middle phalanx of toe	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0005035	Shortening of all phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0005643	Short 3rd toe	http://purl.obolibrary.org/obo/HP_0001831	Short toe		
http://purl.obolibrary.org/obo/HP_0008093	Short 4th toe	http://purl.obolibrary.org/obo/HP_0001831	Short toe		
http://purl.obolibrary.org/obo/HP_0010109	Short hallux	http://purl.obolibrary.org/obo/HP_0008362	Aplasia/Hypoplasia of the hallux		
http://purl.obolibrary.org/obo/HP_0011917	Short 5th toe	http://purl.obolibrary.org/obo/HP_0001831	Short toe		
http://purl.obolibrary.org/obo/HP_0011928	Short proximal phalanx of toe	http://purl.obolibrary.org/obo/HP_0010184	Abnormality of toe proximal phalanx		
http://purl.obolibrary.org/obo/HP_0001440	Metatarsal synostosis	http://purl.obolibrary.org/obo/HP_0100265	Synostosis of metacarpals/metatarsals		
http://purl.obolibrary.org/obo/HP_0001449	Duplication of metatarsal bones	http://purl.obolibrary.org/obo/HP_0009136	Duplication involving bones of the feet		
http://purl.obolibrary.org/obo/HP_0001473	Metatarsal osteolysis	http://purl.obolibrary.org/obo/HP_0009134	Osteolysis involving bones of the feet		
http://purl.obolibrary.org/obo/HP_0001783	Broad metatarsal	http://purl.obolibrary.org/obo/HP_0001832	Abnormal metatarsal morphology		
http://purl.obolibrary.org/obo/HP_0001964	Aplasia/Hypoplasia of metatarsal bones	http://purl.obolibrary.org/obo/HP_0006494	Aplasia/Hypoplasia involving bones of the feet		
http://purl.obolibrary.org/obo/HP_0004699	Osteoporotic metatarsal	http://purl.obolibrary.org/obo/HP_0001832	Abnormal metatarsal morphology		
http://purl.obolibrary.org/obo/HP_0008089	Abnormality of the fifth metatarsal bone	http://purl.obolibrary.org/obo/HP_0001832	Abnormal metatarsal morphology		
http://purl.obolibrary.org/obo/HP_0008371	Abnormal metatarsal ossification	http://purl.obolibrary.org/obo/HP_0010675	Abnormal foot bone ossification		
http://purl.obolibrary.org/obo/HP_0010054	Abnormality of the first metatarsal bone	http://purl.obolibrary.org/obo/HP_0001832	Abnormal metatarsal morphology		
http://purl.obolibrary.org/obo/HP_0010630	Abnormal metatarsal epiphysis morphology	http://purl.obolibrary.org/obo/HP_0010631	Abnormality of the epiphyses of the feet		
http://purl.obolibrary.org/obo/HP_0010672	Abnormality of the third metatarsal bone	http://purl.obolibrary.org/obo/HP_0001832	Abnormal metatarsal morphology		
http://purl.obolibrary.org/obo/HP_0040035	Abnormality of the fourth metatarsal bone	http://purl.obolibrary.org/obo/HP_0001832	Abnormal metatarsal morphology		
http://purl.obolibrary.org/obo/HP_0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010327	Flexion contracture of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010333	Flexion contracture of 3rd toe		
http://purl.obolibrary.org/obo/HP_0100350	Contracture of the proximal interphalangeal joint of the 4th toe	http://purl.obolibrary.org/obo/HP_0010339	Flexion contracture of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100351	Contractures of the proximal interphalangeal joint of the 5th toe	http://purl.obolibrary.org/obo/HP_0010345	Flexion contracture of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010055	Broad hallux	http://purl.obolibrary.org/obo/HP_0001844	Abnormal hallux morphology		
http://purl.obolibrary.org/obo/HP_0100040	Broad 2nd toe	http://purl.obolibrary.org/obo/HP_0010319	Abnormal second toe morphology		
http://purl.obolibrary.org/obo/HP_0100041	Broad 3rd toe	http://purl.obolibrary.org/obo/HP_0010320	Abnormal third toe morphology		
http://purl.obolibrary.org/obo/HP_0100042	Broad 4th toe	http://purl.obolibrary.org/obo/HP_0010321	Abnormal fourth toe morphology		
http://purl.obolibrary.org/obo/HP_0100043	Broad 5th toe	http://purl.obolibrary.org/obo/HP_0010322	Abnormal fifth toe morphology		
http://purl.obolibrary.org/obo/HP_0001870	Acroosteolysis of distal phalanges (feet)	http://purl.obolibrary.org/obo/HP_0010189	Osteolytic defects of the distal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0001847	Long hallux	http://purl.obolibrary.org/obo/HP_0010511	Long toe		
http://purl.obolibrary.org/obo/HP_0008362	Aplasia/Hypoplasia of the hallux	http://purl.obolibrary.org/obo/HP_0010760	Absent toe		
http://purl.obolibrary.org/obo/HP_0010056	Abnormality of the epiphyses of the hallux	http://purl.obolibrary.org/obo/HP_0010160	Abnormal toe epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010057	Abnormal hallux phalanx morphology	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010212	Flexion contracture of the hallux	http://purl.obolibrary.org/obo/HP_0005830	Flexion contracture of toe		
http://purl.obolibrary.org/obo/HP_0008364	Abnormality of the calcaneus	http://purl.obolibrary.org/obo/HP_0001850	Abnormality of the tarsal bones		
http://purl.obolibrary.org/obo/HP_0004679	Large tarsal bones	http://purl.obolibrary.org/obo/HP_0001850	Abnormality of the tarsal bones		
http://purl.obolibrary.org/obo/HP_0008119	Deformed tarsal bones	http://purl.obolibrary.org/obo/HP_0001850	Abnormality of the tarsal bones		
http://purl.obolibrary.org/obo/HP_0008363	Aplasia/Hypoplasia of the tarsal bones	http://purl.obolibrary.org/obo/HP_0006494	Aplasia/Hypoplasia involving bones of the feet		
http://purl.obolibrary.org/obo/HP_0008368	Tarsal synostosis	http://purl.obolibrary.org/obo/HP_0100266	Synostosis of carpals/tarsals		
http://purl.obolibrary.org/obo/HP_0008369	Abnormal tarsal ossification	http://purl.obolibrary.org/obo/HP_0010675	Abnormal foot bone ossification		
http://purl.obolibrary.org/obo/HP_0009132	Abnormal tarsal bone mineral density	http://purl.obolibrary.org/obo/HP_0004348	Abnormality of bone mineral density		
http://purl.obolibrary.org/obo/HP_0001872	Abnormality of thrombocytes	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0001877	Abnormal erythrocyte morphology	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0001881	Abnormal leukocyte morphology	http://purl.obolibrary.org/obo/HP_0010987	Abnormal cellular immune system morphology		
http://purl.obolibrary.org/obo/HP_0001892	Abnormal bleeding	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0001928	Abnormality of coagulation	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0001978	Extramedullary hematopoiesis	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0004377	Hematological neoplasm	http://purl.obolibrary.org/obo/HP_0011793	Neoplasm by anatomical site		
http://purl.obolibrary.org/obo/HP_0001977	Abnormal thrombosis	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0005561	Abnormal bone marrow cell morphology	http://purl.obolibrary.org/obo/HP_0001871	Abnormality of blood and blood-forming tissues		
http://purl.obolibrary.org/obo/HP_0011869	Abnormal platelet function	http://purl.obolibrary.org/obo/HP_0001872	Abnormality of thrombocytes		
http://purl.obolibrary.org/obo/HP_0011875	Abnormal platelet morphology	http://purl.obolibrary.org/obo/HP_0001872	Abnormality of thrombocytes		
http://purl.obolibrary.org/obo/HP_0011990	Abnormal neutrophil physiology	http://purl.obolibrary.org/obo/HP_0033796	Abnormal leukocyte physiology		
http://purl.obolibrary.org/obo/HP_0011992	Abnormal neutrophil morphology	http://purl.obolibrary.org/obo/HP_0001874	Abnormality of neutrophils		
http://purl.obolibrary.org/obo/HP_0001901	Polycythemia	http://purl.obolibrary.org/obo/HP_0001877	Abnormal erythrocyte morphology		
http://purl.obolibrary.org/obo/HP_0004312	Abnormal reticulocyte morphology	http://purl.obolibrary.org/obo/HP_0001877	Abnormal erythrocyte morphology		
http://purl.obolibrary.org/obo/HP_0004447	Poikilocytosis	http://purl.obolibrary.org/obo/HP_0001877	Abnormal erythrocyte morphology		
http://purl.obolibrary.org/obo/HP_0001903	Anemia	http://purl.obolibrary.org/obo/HP_0001877	Abnormal erythrocyte morphology		
http://purl.obolibrary.org/obo/HP_0011902	Abnormal hemoglobin	http://purl.obolibrary.org/obo/HP_0001877	Abnormal erythrocyte morphology		
http://purl.obolibrary.org/obo/HP_0012131	Abnormal number of erythroid precursors	http://purl.obolibrary.org/obo/HP_0001877	Abnormal erythrocyte morphology		
http://purl.obolibrary.org/obo/HP_0004870	Chronic hemolytic anemia	http://purl.obolibrary.org/obo/HP_0001878	Hemolytic anemia		
http://purl.obolibrary.org/obo/HP_0001909	Leukemia	http://purl.obolibrary.org/obo/HP_0004377	Hematological neoplasm		
http://purl.obolibrary.org/obo/HP_0004332	Abnormal lymphocyte morphology	http://purl.obolibrary.org/obo/HP_0001881	Abnormal leukocyte morphology		
http://purl.obolibrary.org/obo/HP_0010974	Abnormal myeloid leukocyte morphology	http://purl.obolibrary.org/obo/HP_0001881	Abnormal leukocyte morphology		
http://purl.obolibrary.org/obo/HP_0011893	Abnormal leukocyte count	http://purl.obolibrary.org/obo/HP_0001881	Abnormal leukocyte morphology		
http://purl.obolibrary.org/obo/HP_0001762	Talipes equinovarus	http://purl.obolibrary.org/obo/HP_0001883	Talipes		
http://purl.obolibrary.org/obo/HP_0001933	Subcutaneous hemorrhage	http://purl.obolibrary.org/obo/HP_0011276	Vascular skin abnormality		
http://purl.obolibrary.org/obo/HP_0011029	Internal hemorrhage	http://purl.obolibrary.org/obo/HP_0011028	Abnormality of blood circulation		
http://purl.obolibrary.org/obo/HP_0001898	Increased red blood cell mass	http://purl.obolibrary.org/obo/HP_0001901	Polycythemia		
http://purl.obolibrary.org/obo/HP_0005558	Chronic leukemia	http://purl.obolibrary.org/obo/HP_0001909	Leukemia		
http://purl.obolibrary.org/obo/HP_0001874	Abnormality of neutrophils	http://purl.obolibrary.org/obo/HP_0001911	Abnormal granulocyte morphology		
http://purl.obolibrary.org/obo/HP_0001879	Abnormal eosinophil morphology	http://purl.obolibrary.org/obo/HP_0001911	Abnormal granulocyte morphology		
http://purl.obolibrary.org/obo/HP_0100494	Abnormal mast cell morphology	http://purl.obolibrary.org/obo/HP_0001911	Abnormal granulocyte morphology		
http://purl.obolibrary.org/obo/HP_0012234	Absence of circulating granulocytes	http://purl.obolibrary.org/obo/HP_0001913	Decreased total granulocyte count		
http://purl.obolibrary.org/obo/HP_0003256	Abnormality of the coagulation cascade	http://purl.obolibrary.org/obo/HP_0001928	Abnormality of coagulation		
http://purl.obolibrary.org/obo/HP_0000979	Purpura	http://purl.obolibrary.org/obo/HP_0001933	Subcutaneous hemorrhage		
http://purl.obolibrary.org/obo/HP_0000978	Bruising susceptibility	http://purl.obolibrary.org/obo/HP_0001933	Subcutaneous hemorrhage		
http://purl.obolibrary.org/obo/HP_0001946	Ketosis	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		
http://purl.obolibrary.org/obo/HP_0003110	Abnormality of urine homeostasis	http://purl.obolibrary.org/obo/HP_0011277	Abnormality of the urinary system physiology		
http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology	http://purl.obolibrary.org/obo/HP_0025354	Abnormal cellular phenotype		
http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis	http://purl.obolibrary.org/obo/HP_0001939	Abnormality of metabolism/homeostasis		
http://purl.obolibrary.org/obo/HP_0001942	Metabolic acidosis	http://purl.obolibrary.org/obo/HP_0001941	Acidosis		
http://purl.obolibrary.org/obo/HP_0002151	Increased circulating lactate concentration	http://purl.obolibrary.org/obo/HP_0001941	Acidosis		
http://purl.obolibrary.org/obo/HP_0003128	Lactic acidosis	http://purl.obolibrary.org/obo/HP_0001941	Acidosis		
http://purl.obolibrary.org/obo/HP_0012468	Chronic acidosis	http://purl.obolibrary.org/obo/HP_0001941	Acidosis		
http://purl.obolibrary.org/obo/HP_0410175	Hyperketonemia	http://purl.obolibrary.org/obo/HP_0001946	Ketosis		
http://purl.obolibrary.org/obo/HP_0040270	Impaired glucose tolerance	http://purl.obolibrary.org/obo/HP_0001952	Glucose intolerance		
http://purl.obolibrary.org/obo/HP_0004383	Hypoplastic left ventricle	http://purl.obolibrary.org/obo/HP_0045017	Congenital malformation of the left heart		
http://purl.obolibrary.org/obo/HP_0010954	Hypoplastic right ventricle	http://purl.obolibrary.org/obo/HP_0011723	Congenital malformation of the right heart		
http://purl.obolibrary.org/obo/HP_0010743	Short metatarsal	http://purl.obolibrary.org/obo/HP_0003026	Short long bone		
http://purl.obolibrary.org/obo/HP_0010744	Absent metatarsal bone	http://purl.obolibrary.org/obo/HP_0001964	Aplasia/Hypoplasia of metatarsal bones		
http://purl.obolibrary.org/obo/HP_0040033	Aplasia/Hypoplasia of the fifth metatarsal bone	http://purl.obolibrary.org/obo/HP_0008089	Abnormality of the fifth metatarsal bone		
http://purl.obolibrary.org/obo/HP_0010541	Cutis gyrata of scalp	http://purl.obolibrary.org/obo/HP_0011356	Regional abnormality of skin		
http://purl.obolibrary.org/obo/HP_0001967	Diffuse mesangial sclerosis	http://purl.obolibrary.org/obo/HP_0001966	Abnormal glomerular mesangium morphology		
http://purl.obolibrary.org/obo/HP_0033231	Abnormal glomerular mesangial cellularity	http://purl.obolibrary.org/obo/HP_0001966	Abnormal glomerular mesangium morphology		
http://purl.obolibrary.org/obo/HP_0001889	Megaloblastic anemia	http://purl.obolibrary.org/obo/HP_0001972	Macrocytic anemia		
http://purl.obolibrary.org/obo/HP_0001831	Short toe	http://purl.obolibrary.org/obo/HP_0011927	Short digit		
http://purl.obolibrary.org/obo/HP_0010760	Absent toe	http://purl.obolibrary.org/obo/HP_0001991	Aplasia/Hypoplasia of toe		
http://purl.obolibrary.org/obo/HP_0000274	Small face	http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape		
http://purl.obolibrary.org/obo/HP_0000311	Round face	http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape		
http://purl.obolibrary.org/obo/HP_0000324	Facial asymmetry	http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape		
http://purl.obolibrary.org/obo/HP_0012368	Flat face	http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape		
http://purl.obolibrary.org/obo/HP_0100729	Large face	http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape		
http://purl.obolibrary.org/obo/HP_0002143	Abnormal spinal cord morphology	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0002269	Abnormality of neuronal migration	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0002921	Abnormal cerebrospinal fluid morphology	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0010651	Abnormal meningeal morphology	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0011400	Abnormal CNS myelination	http://purl.obolibrary.org/obo/HP_0012447	Abnormal myelination		
http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0012703	Abnormal subarachnoid space morphology	http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality		
http://purl.obolibrary.org/obo/HP_0001392	Abnormality of the liver	http://purl.obolibrary.org/obo/HP_0002012	Abnormality of the abdominal organs		
http://purl.obolibrary.org/obo/HP_0001732	Abnormality of the pancreas	http://purl.obolibrary.org/obo/HP_0002012	Abnormality of the abdominal organs		
http://purl.obolibrary.org/obo/HP_0001743	Abnormality of the spleen	http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system		
http://purl.obolibrary.org/obo/HP_0002585	Abnormal peritoneum morphology	http://purl.obolibrary.org/obo/HP_0002012	Abnormality of the abdominal organs		
http://purl.obolibrary.org/obo/HP_0100016	Abnormal mesentery morphology	http://purl.obolibrary.org/obo/HP_0002012	Abnormality of the abdominal organs		
http://purl.obolibrary.org/obo/HP_0002013	Vomiting	http://purl.obolibrary.org/obo/HP_0002017	Nausea and vomiting		
http://purl.obolibrary.org/obo/HP_0002630	Fat malabsorption	http://purl.obolibrary.org/obo/HP_0002024	Malabsorption		
http://purl.obolibrary.org/obo/HP_0004789	Lactose intolerance	http://purl.obolibrary.org/obo/HP_0002024	Malabsorption		
http://purl.obolibrary.org/obo/HP_0002032	Esophageal atresia	http://purl.obolibrary.org/obo/HP_0002589	Gastrointestinal atresia		
http://purl.obolibrary.org/obo/HP_0010450	Esophageal stenosis	http://purl.obolibrary.org/obo/HP_0002031	Abnormal esophagus morphology		
http://purl.obolibrary.org/obo/HP_0005240	Esophageal obstruction	http://purl.obolibrary.org/obo/HP_0004796	Gastrointestinal obstruction		
http://purl.obolibrary.org/obo/HP_0011128	Acute esophageal necrosis	http://purl.obolibrary.org/obo/HP_0002031	Abnormal esophagus morphology		
http://purl.obolibrary.org/obo/HP_0100681	Esophageal duplication	http://purl.obolibrary.org/obo/HP_0011140	Gastrointestinal duplication		
http://purl.obolibrary.org/obo/HP_0002035	Rectal prolapse	http://purl.obolibrary.org/obo/HP_0002034	Abnormal rectum morphology		
http://purl.obolibrary.org/obo/HP_0025023	Rectal atresia	http://purl.obolibrary.org/obo/HP_0011100	Intestinal atresia		
http://purl.obolibrary.org/obo/HP_0002583	Colitis	http://purl.obolibrary.org/obo/HP_0002037	Inflammation of the large intestine		
http://purl.obolibrary.org/obo/HP_0002120	Cerebral cortical atrophy	http://purl.obolibrary.org/obo/HP_0002538	Abnormal cerebral cortex morphology		
http://purl.obolibrary.org/obo/HP_0002181	Cerebral edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0002352	Leukoencephalopathy	http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology		
http://purl.obolibrary.org/obo/HP_0002514	Cerebral calcification	http://purl.obolibrary.org/obo/HP_0430048	Intracranial calcification		
http://purl.obolibrary.org/obo/HP_0002528	Granulovacuolar degeneration	http://purl.obolibrary.org/obo/HP_0002180	Neurodegeneration		
http://purl.obolibrary.org/obo/HP_0002538	Abnormal cerebral cortex morphology	http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology		
http://purl.obolibrary.org/obo/HP_0007364	Aplasia/Hypoplasia of the cerebrum	http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system		
http://purl.obolibrary.org/obo/HP_0007369	Atrophy/Degeneration affecting the cerebrum	http://purl.obolibrary.org/obo/HP_0012444	Brain atrophy		
http://purl.obolibrary.org/obo/HP_0007375	Abnormal septum pellucidum morphology	http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology		
http://purl.obolibrary.org/obo/HP_0010993	Abnormal cerebral subcortex morphology	http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology		
http://purl.obolibrary.org/obo/HP_0100314	Cerebral inclusion bodies	http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology		
http://purl.obolibrary.org/obo/HP_0025722	Cerebral infarct	http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology		
http://purl.obolibrary.org/obo/HP_0001300	Parkinsonism	http://purl.obolibrary.org/obo/HP_0002071	Abnormality of extrapyramidal motor function		
http://purl.obolibrary.org/obo/HP_0002267	Exaggerated startle response	http://purl.obolibrary.org/obo/HP_0002071	Abnormality of extrapyramidal motor function		
http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology	http://purl.obolibrary.org/obo/HP_0002086	Abnormality of the respiratory system		
http://purl.obolibrary.org/obo/HP_0100606	Neoplasm of the respiratory system	http://purl.obolibrary.org/obo/HP_0011793	Neoplasm by anatomical site		
http://purl.obolibrary.org/obo/HP_0000245	Abnormal paranasal sinus morphology	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0000600	Abnormality of the pharynx	http://purl.obolibrary.org/obo/HP_0002087	Abnormality of the upper respiratory tract		
http://purl.obolibrary.org/obo/HP_0001600	Abnormality of the larynx	http://purl.obolibrary.org/obo/HP_0002087	Abnormality of the upper respiratory tract		
http://purl.obolibrary.org/obo/HP_0002103	Abnormal pleura morphology	http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology		
http://purl.obolibrary.org/obo/HP_0011947	Respiratory tract infection	http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology		
http://purl.obolibrary.org/obo/HP_0100526	Neoplasm of the lung	http://purl.obolibrary.org/obo/HP_0100606	Neoplasm of the respiratory system		
http://purl.obolibrary.org/obo/HP_0006530	Abnormal pulmonary interstitial morphology	http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology		
http://purl.obolibrary.org/obo/HP_0100598	Pulmonary edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0004930	Abnormality of the pulmonary vasculature	http://purl.obolibrary.org/obo/HP_0002597	Abnormality of the vasculature		
http://purl.obolibrary.org/obo/HP_0006529	Abnormal pulmonary lymphatics	http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system		
http://purl.obolibrary.org/obo/HP_0032973	Abnormal bronchoalveolar lavage fluid morphology	http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology		
http://purl.obolibrary.org/obo/HP_0033137	Abnormal pulmonary alveolar system morphology	http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology		
http://purl.obolibrary.org/obo/HP_0002102	Pleuritis	http://purl.obolibrary.org/obo/HP_0002103	Abnormal pleura morphology		
http://purl.obolibrary.org/obo/HP_0002202	Pleural effusion	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0002119	Ventriculomegaly	http://purl.obolibrary.org/obo/HP_0002118	Abnormal cerebral ventricle morphology		
http://purl.obolibrary.org/obo/HP_0002410	Aqueductal stenosis	http://purl.obolibrary.org/obo/HP_0002118	Abnormal cerebral ventricle morphology		
http://purl.obolibrary.org/obo/HP_0007376	Abnormal choroid plexus morphology	http://purl.obolibrary.org/obo/HP_0002118	Abnormal cerebral ventricle morphology		
http://purl.obolibrary.org/obo/HP_0010950	Abnormal fourth ventricle morphology	http://purl.obolibrary.org/obo/HP_0002118	Abnormal cerebral ventricle morphology		
http://purl.obolibrary.org/obo/HP_0000238	Hydrocephalus	http://purl.obolibrary.org/obo/HP_0002921	Abnormal cerebrospinal fluid morphology		
http://purl.obolibrary.org/obo/HP_0010951	Abnormal third ventricle morphology	http://purl.obolibrary.org/obo/HP_0002118	Abnormal cerebral ventricle morphology		
http://purl.obolibrary.org/obo/HP_0002198	Dilated fourth ventricle	http://purl.obolibrary.org/obo/HP_0010950	Abnormal fourth ventricle morphology		
http://purl.obolibrary.org/obo/HP_0007082	Dilated third ventricle	http://purl.obolibrary.org/obo/HP_0010951	Abnormal third ventricle morphology		
http://purl.obolibrary.org/obo/HP_0007112	Temporal cortical atrophy	http://purl.obolibrary.org/obo/HP_0002120	Cerebral cortical atrophy		
http://purl.obolibrary.org/obo/HP_0011147	Typical absence seizure	http://purl.obolibrary.org/obo/HP_0002121	Generalized non-motor (absence) seizure		
http://purl.obolibrary.org/obo/HP_0002135	Basal ganglia calcification	http://purl.obolibrary.org/obo/HP_0002514	Cerebral calcification		
http://purl.obolibrary.org/obo/HP_0006799	Basal ganglia cysts	http://purl.obolibrary.org/obo/HP_0010576	Intracranial cystic lesion		
http://purl.obolibrary.org/obo/HP_0007048	Large basal ganglia	http://purl.obolibrary.org/obo/HP_0002134	Abnormal basal ganglia morphology		
http://purl.obolibrary.org/obo/HP_0012128	Basal ganglia necrosis	http://purl.obolibrary.org/obo/HP_0002134	Abnormal basal ganglia morphology		
http://purl.obolibrary.org/obo/HP_0012697	Small basal ganglia	http://purl.obolibrary.org/obo/HP_0002134	Abnormal basal ganglia morphology		
http://purl.obolibrary.org/obo/HP_0200147	Neuronal loss in basal ganglia	http://purl.obolibrary.org/obo/HP_0002134	Abnormal basal ganglia morphology		
http://purl.obolibrary.org/obo/HP_0003133	Abnormal spinocerebellar tract morphology	http://purl.obolibrary.org/obo/HP_0002143	Abnormal spinal cord morphology		
http://purl.obolibrary.org/obo/HP_0007344	Atrophy/Degeneration involving the spinal cord	http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system		
http://purl.obolibrary.org/obo/HP_0010303	Abnormal spinal meningeal morphology	http://purl.obolibrary.org/obo/HP_0010651	Abnormal meningeal morphology		
http://purl.obolibrary.org/obo/HP_0001987	Hyperammonemia	http://purl.obolibrary.org/obo/HP_0002157	Azotemia		
http://purl.obolibrary.org/obo/HP_0003138	Increased blood urea nitrogen	http://purl.obolibrary.org/obo/HP_0031970	Abnormal blood urea nitrogen concentration		
http://purl.obolibrary.org/obo/HP_0003537	Hypouricemia	http://purl.obolibrary.org/obo/HP_0010932	Abnormal circulating nucleobase concentration		
http://purl.obolibrary.org/obo/HP_0002149	Hyperuricemia	http://purl.obolibrary.org/obo/HP_0010932	Abnormal circulating nucleobase concentration		
http://purl.obolibrary.org/obo/HP_0002300	Mutism	http://purl.obolibrary.org/obo/HP_0002167	Abnormal speech pattern		
http://purl.obolibrary.org/obo/HP_0000750	Delayed speech and language development	http://purl.obolibrary.org/obo/HP_0012758	Neurodevelopmental delay		
http://purl.obolibrary.org/obo/HP_0001260	Dysarthria	http://purl.obolibrary.org/obo/HP_0002167	Abnormal speech pattern		
http://purl.obolibrary.org/obo/HP_0000658	Eyelid apraxia	http://purl.obolibrary.org/obo/HP_0031879	Abnormal eyelid physiology		
http://purl.obolibrary.org/obo/HP_0002121	Generalized non-motor (absence) seizure	http://purl.obolibrary.org/obo/HP_0033259	Non-motor seizure		
http://purl.obolibrary.org/obo/HP_0001433	Hepatosplenomegaly	http://purl.obolibrary.org/obo/HP_0001744	Splenomegaly		
http://purl.obolibrary.org/obo/HP_0002244	Abnormal small intestine morphology	http://purl.obolibrary.org/obo/HP_0002242	Abnormal intestine morphology		
http://purl.obolibrary.org/obo/HP_0002250	Abnormal large intestine morphology	http://purl.obolibrary.org/obo/HP_0002242	Abnormal intestine morphology		
http://purl.obolibrary.org/obo/HP_0005214	Intestinal obstruction	http://purl.obolibrary.org/obo/HP_0004796	Gastrointestinal obstruction		
http://purl.obolibrary.org/obo/HP_0011100	Intestinal atresia	http://purl.obolibrary.org/obo/HP_0002589	Gastrointestinal atresia		
http://purl.obolibrary.org/obo/HP_0002584	Intestinal bleeding	http://purl.obolibrary.org/obo/HP_0002239	Gastrointestinal hemorrhage		
http://purl.obolibrary.org/obo/HP_0005225	Intestinal edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0005245	Intestinal hypoplasia	http://purl.obolibrary.org/obo/HP_0002242	Abnormal intestine morphology		
http://purl.obolibrary.org/obo/HP_0100668	Intestinal duplication	http://purl.obolibrary.org/obo/HP_0011140	Gastrointestinal duplication		
http://purl.obolibrary.org/obo/HP_0001549	Abnormal ileum morphology	http://purl.obolibrary.org/obo/HP_0002244	Abnormal small intestine morphology		
http://purl.obolibrary.org/obo/HP_0002246	Abnormal duodenum morphology	http://purl.obolibrary.org/obo/HP_0002244	Abnormal small intestine morphology		
http://purl.obolibrary.org/obo/HP_0004790	Hypoplasia of the small intestine	http://purl.obolibrary.org/obo/HP_0005245	Intestinal hypoplasia		
http://purl.obolibrary.org/obo/HP_0005265	Abnormal jejunum morphology	http://purl.obolibrary.org/obo/HP_0002244	Abnormal small intestine morphology		
http://purl.obolibrary.org/obo/HP_0012848	Small intestinal stenosis	http://purl.obolibrary.org/obo/HP_0002244	Abnormal small intestine morphology		
http://purl.obolibrary.org/obo/HP_0002247	Duodenal atresia	http://purl.obolibrary.org/obo/HP_0011100	Intestinal atresia		
http://purl.obolibrary.org/obo/HP_0100867	Duodenal stenosis	http://purl.obolibrary.org/obo/HP_0012848	Small intestinal stenosis		
http://purl.obolibrary.org/obo/HP_0033117	Duodenitis	http://purl.obolibrary.org/obo/HP_0002246	Abnormal duodenum morphology		
http://purl.obolibrary.org/obo/HP_0002034	Abnormal rectum morphology	http://purl.obolibrary.org/obo/HP_0012732	Anorectal anomaly		
http://purl.obolibrary.org/obo/HP_0005223	Duplicated colon	http://purl.obolibrary.org/obo/HP_0100668	Intestinal duplication		
http://purl.obolibrary.org/obo/HP_0010448	Colonic atresia	http://purl.obolibrary.org/obo/HP_0011100	Intestinal atresia		
http://purl.obolibrary.org/obo/HP_0100811	Aplasia/Hypoplasia of the colon	http://purl.obolibrary.org/obo/HP_0005245	Intestinal hypoplasia		
http://purl.obolibrary.org/obo/HP_0002282	Gray matter heterotopia	http://purl.obolibrary.org/obo/HP_0002269	Abnormality of neuronal migration		
http://purl.obolibrary.org/obo/HP_0002536	Abnormal cortical gyration	http://purl.obolibrary.org/obo/HP_0002538	Abnormal cerebral cortex morphology		
http://purl.obolibrary.org/obo/HP_0012332	Abnormal autonomic nervous system physiology	http://purl.obolibrary.org/obo/HP_0002270	Abnormality of the autonomic nervous system		
http://purl.obolibrary.org/obo/HP_0012331	Abnormal autonomic nervous system morphology	http://purl.obolibrary.org/obo/HP_0002270	Abnormality of the autonomic nervous system		
http://purl.obolibrary.org/obo/HP_0002221	Absent axillary hair	http://purl.obolibrary.org/obo/HP_0100134	Abnormality of the axillary hair		
http://purl.obolibrary.org/obo/HP_0002223	Absent eyebrow	http://purl.obolibrary.org/obo/HP_0100840	Aplasia/Hypoplasia of the eyebrow		
http://purl.obolibrary.org/obo/HP_0002550	Absent facial hair	http://purl.obolibrary.org/obo/HP_0002298	Absent hair		
http://purl.obolibrary.org/obo/HP_0002076	Migraine	http://purl.obolibrary.org/obo/HP_0002315	Headache		
http://purl.obolibrary.org/obo/HP_0002195	Dysgenesis of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0002334	Abnormal cerebellar vermis morphology		
http://purl.obolibrary.org/obo/HP_0006817	Aplasia/Hypoplasia of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0007360	Aplasia/Hypoplasia of the cerebellum		
http://purl.obolibrary.org/obo/HP_0002494	Abnormal rapid eye movement sleep	http://purl.obolibrary.org/obo/HP_0002360	Sleep disturbance		
http://purl.obolibrary.org/obo/HP_0001262	Excessive daytime somnolence	http://purl.obolibrary.org/obo/HP_0004372	Reduced consciousness		
http://purl.obolibrary.org/obo/HP_0006979	Sleep-wake cycle disturbance	http://purl.obolibrary.org/obo/HP_0002360	Sleep disturbance		
http://purl.obolibrary.org/obo/HP_0025234	Parasomnia	http://purl.obolibrary.org/obo/HP_0002360	Sleep disturbance		
http://purl.obolibrary.org/obo/HP_5200283	Sleep-related breathing disorders	http://purl.obolibrary.org/obo/HP_0002360	Sleep disturbance		
http://purl.obolibrary.org/obo/HP_0007362	Aplasia/Hypoplasia of the brainstem	http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system		
http://purl.obolibrary.org/obo/HP_0007361	Abnormal pons morphology	http://purl.obolibrary.org/obo/HP_0011283	Abnormal metencephalon morphology		
http://purl.obolibrary.org/obo/HP_0007366	Atrophy/Degeneration affecting the brainstem	http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system		
http://purl.obolibrary.org/obo/HP_0011441	Abnormal medulla oblongata morphology	http://purl.obolibrary.org/obo/HP_0011282	Abnormal hindbrain morphology		
http://purl.obolibrary.org/obo/HP_0012501	Abnormal brainstem white matter morphology	http://purl.obolibrary.org/obo/HP_0002363	Abnormal brainstem morphology		
http://purl.obolibrary.org/obo/HP_0002304	Akinesia	http://purl.obolibrary.org/obo/HP_0002374	Diminished movement		
http://purl.obolibrary.org/obo/HP_0002375	Hypokinesia	http://purl.obolibrary.org/obo/HP_0002374	Diminished movement		
http://purl.obolibrary.org/obo/HP_0007083	Hyperactive patellar reflex	http://purl.obolibrary.org/obo/HP_0007054	Proximal hyperreflexia		
http://purl.obolibrary.org/obo/HP_0007373	Motor neuron atrophy	http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system		
http://purl.obolibrary.org/obo/HP_0001257	Spasticity	http://purl.obolibrary.org/obo/HP_0001276	Hypertonia		
http://purl.obolibrary.org/obo/HP_0010549	Weakness due to upper motor neuron dysfunction	http://purl.obolibrary.org/obo/HP_0002493	Upper motor neuron dysfunction		
http://purl.obolibrary.org/obo/HP_0001273	Abnormal corpus callosum morphology	http://purl.obolibrary.org/obo/HP_0002500	Abnormal cerebral white matter morphology		
http://purl.obolibrary.org/obo/HP_0012429	Aplasia/Hypoplasia of the cerebral white matter	http://purl.obolibrary.org/obo/HP_0002500	Abnormal cerebral white matter morphology		
http://purl.obolibrary.org/obo/HP_0006895	Lower limb hypertonia	http://purl.obolibrary.org/obo/HP_0002509	Limb hypertonia		
http://purl.obolibrary.org/obo/HP_0005462	Calcification of falx cerebri	http://purl.obolibrary.org/obo/HP_0010653	Abnormality of the falx cerebri		
http://purl.obolibrary.org/obo/HP_0001339	Lissencephaly	http://purl.obolibrary.org/obo/HP_0002536	Abnormal cortical gyration		
http://purl.obolibrary.org/obo/HP_0002472	Small cerebral cortex	http://purl.obolibrary.org/obo/HP_0002538	Abnormal cerebral cortex morphology		
http://purl.obolibrary.org/obo/HP_0002539	Cortical dysplasia	http://purl.obolibrary.org/obo/HP_0002538	Abnormal cerebral cortex morphology		
http://purl.obolibrary.org/obo/HP_0006891	Thick cerebral cortex	http://purl.obolibrary.org/obo/HP_0002538	Abnormal cerebral cortex morphology		
http://purl.obolibrary.org/obo/HP_0007190	Neuronal loss in the cerebral cortex	http://purl.obolibrary.org/obo/HP_0002538	Abnormal cerebral cortex morphology		
http://purl.obolibrary.org/obo/HP_0007333	Hypoplasia of the frontal lobes	http://purl.obolibrary.org/obo/HP_0006872	Cerebral hypoplasia		
http://purl.obolibrary.org/obo/HP_0006930	Frontoparietal cortical dysplasia	http://purl.obolibrary.org/obo/HP_0002539	Cortical dysplasia		
http://purl.obolibrary.org/obo/HP_0000561	Absent eyelashes	http://purl.obolibrary.org/obo/HP_0200102	Sparse or absent eyelashes		
http://purl.obolibrary.org/obo/HP_0002036	Hiatus hernia	http://purl.obolibrary.org/obo/HP_0100790	Hernia		
http://purl.obolibrary.org/obo/HP_0004295	Abnormal gastric mucosa morphology	http://purl.obolibrary.org/obo/HP_0002577	Abnormal stomach morphology		
http://purl.obolibrary.org/obo/HP_0004400	Abnormality of the pylorus	http://purl.obolibrary.org/obo/HP_0002577	Abnormal stomach morphology		
http://purl.obolibrary.org/obo/HP_0005207	Gastric hypertrophy	http://purl.obolibrary.org/obo/HP_0002577	Abnormal stomach morphology		
http://purl.obolibrary.org/obo/HP_0006753	Neoplasm of the stomach	http://purl.obolibrary.org/obo/HP_0007378	Neoplasm of the gastrointestinal tract		
http://purl.obolibrary.org/obo/HP_0011139	Gastric duplication	http://purl.obolibrary.org/obo/HP_0011140	Gastrointestinal duplication		
http://purl.obolibrary.org/obo/HP_0030914	Abnormal peristalsis	http://purl.obolibrary.org/obo/HP_0002579	Gastrointestinal dysmotility		
http://purl.obolibrary.org/obo/HP_0002586	Peritonitis	http://purl.obolibrary.org/obo/HP_0045073	Serositis		
http://purl.obolibrary.org/obo/HP_0005200	Retroperitoneal fibrosis	http://purl.obolibrary.org/obo/HP_0002585	Abnormal peritoneum morphology		
http://purl.obolibrary.org/obo/HP_0011276	Vascular skin abnormality	http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin		
http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system	http://purl.obolibrary.org/obo/HP_0002715	Abnormality of the immune system		
http://purl.obolibrary.org/obo/HP_0008047	Abnormality of the vasculature of the eye	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0025015	Abnormal vascular morphology	http://purl.obolibrary.org/obo/HP_0030680	Abnormal cardiovascular system morphology		
http://purl.obolibrary.org/obo/HP_0030163	Abnormal vascular physiology	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		
http://purl.obolibrary.org/obo/HP_0009072	Decreased Achilles reflex	http://purl.obolibrary.org/obo/HP_0002600	Hyporeflexia of lower limbs		
http://purl.obolibrary.org/obo/HP_0011808	Decreased patellar reflex	http://purl.obolibrary.org/obo/HP_0002600	Hyporeflexia of lower limbs		
http://purl.obolibrary.org/obo/HP_0005293	Venous insufficiency	http://purl.obolibrary.org/obo/HP_0002624	Abnormal venous morphology		
http://purl.obolibrary.org/obo/HP_0012721	Venous malformation	http://purl.obolibrary.org/obo/HP_0002624	Abnormal venous morphology		
http://purl.obolibrary.org/obo/HP_0002570	Steatorrhea	http://purl.obolibrary.org/obo/HP_0002630	Fat malabsorption		
http://purl.obolibrary.org/obo/HP_0003272	Abnormal hip bone morphology	http://purl.obolibrary.org/obo/HP_0002644	Abnormal pelvic girdle bone morphology		
http://purl.obolibrary.org/obo/HP_0009103	Aplasia/Hypoplasia involving the pelvis	http://purl.obolibrary.org/obo/HP_0002644	Abnormal pelvic girdle bone morphology		
http://purl.obolibrary.org/obo/HP_0009106	Abnormal pelvis bone ossification	http://purl.obolibrary.org/obo/HP_0003336	Abnormal enchondral ossification		
http://purl.obolibrary.org/obo/HP_0040163	Abnormal pelvis bone morphology	http://purl.obolibrary.org/obo/HP_0002644	Abnormal pelvic girdle bone morphology		
http://purl.obolibrary.org/obo/HP_0002654	Multiple epiphyseal dysplasia	http://purl.obolibrary.org/obo/HP_0002652	Skeletal dysplasia		
http://purl.obolibrary.org/obo/HP_0002656	Epiphyseal dysplasia	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0002651	Spondyloepimetaphyseal dysplasia	http://purl.obolibrary.org/obo/HP_0002652	Skeletal dysplasia		
http://purl.obolibrary.org/obo/HP_0003840	Delayed upper limb epiphyseal ossification	http://purl.obolibrary.org/obo/HP_0003839	Abnormal upper limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0006016	Delayed phalangeal epiphyseal ossification	http://purl.obolibrary.org/obo/HP_0002663	Delayed epiphyseal ossification		
http://purl.obolibrary.org/obo/HP_0008828	Delayed proximal femoral epiphyseal ossification	http://purl.obolibrary.org/obo/HP_0009107	Abnormal ossification involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0011792	Neoplasm by histology	http://purl.obolibrary.org/obo/HP_0002664	Neoplasm		
http://purl.obolibrary.org/obo/HP_0011793	Neoplasm by anatomical site	http://purl.obolibrary.org/obo/HP_0002664	Neoplasm		
http://purl.obolibrary.org/obo/HP_0002681	Deformed sella turcica	http://purl.obolibrary.org/obo/HP_0002679	Abnormal sella turcica morphology		
http://purl.obolibrary.org/obo/HP_0002690	Large sella turcica	http://purl.obolibrary.org/obo/HP_0002679	Abnormal sella turcica morphology		
http://purl.obolibrary.org/obo/HP_0010538	Small sella turcica	http://purl.obolibrary.org/obo/HP_0002679	Abnormal sella turcica morphology		
http://purl.obolibrary.org/obo/HP_0005463	Elongated sella turcica	http://purl.obolibrary.org/obo/HP_0002681	Deformed sella turcica		
http://purl.obolibrary.org/obo/HP_0100857	Flat sella turcica	http://purl.obolibrary.org/obo/HP_0002681	Deformed sella turcica		
http://purl.obolibrary.org/obo/HP_0000243	Trigonocephaly	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0000250	Dense calvaria	http://purl.obolibrary.org/obo/HP_0004330	Increased skull ossification		
http://purl.obolibrary.org/obo/HP_0000267	Cranial asymmetry	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0001362	Calvarial skull defect	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0002678	Skull asymmetry	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0002682	Broad skull	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0002684	Thickened calvaria	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0004437	Cranial hyperostosis	http://purl.obolibrary.org/obo/HP_0100774	Hyperostosis		
http://purl.obolibrary.org/obo/HP_0005474	Decreased calvarial ossification	http://purl.obolibrary.org/obo/HP_0004331	Decreased skull ossification		
http://purl.obolibrary.org/obo/HP_0010539	Thin calvarium	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0012294	Abnormal occipital bone morphology	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0430000	Abnormal frontal bone morphology	http://purl.obolibrary.org/obo/HP_0002683	Abnormal calvaria morphology		
http://purl.obolibrary.org/obo/HP_0100603	Toxemia of pregnancy	http://purl.obolibrary.org/obo/HP_0002686	Pregnancy history		
http://purl.obolibrary.org/obo/HP_0200067	Recurrent spontaneous abortion	http://purl.obolibrary.org/obo/HP_0002686	Pregnancy history		
http://purl.obolibrary.org/obo/HP_0009119	Aplasia/Hypoplasia of the frontal sinuses	http://purl.obolibrary.org/obo/HP_0009120	Aplasia/Hypoplasia involving the sinuses		
http://purl.obolibrary.org/obo/HP_0005466	Hypoplasia of the frontal bone	http://purl.obolibrary.org/obo/HP_0011218	Abnormal shape of the frontal region		
http://purl.obolibrary.org/obo/HP_0010650	Hypoplasia of the premaxilla	http://purl.obolibrary.org/obo/HP_0010756	Aplasia/Hypoplasia of the premaxilla		
http://purl.obolibrary.org/obo/HP_0010669	Hypoplasia of the zygomatic bone	http://purl.obolibrary.org/obo/HP_0010668	Abnormal zygomatic bone morphology		
http://purl.obolibrary.org/obo/HP_0000932	Abnormal posterior cranial fossa morphology	http://purl.obolibrary.org/obo/HP_0002693	Abnormal skull base morphology		
http://purl.obolibrary.org/obo/HP_0002694	Sclerosis of skull base	http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density		
http://purl.obolibrary.org/obo/HP_0002737	Thick skull base	http://purl.obolibrary.org/obo/HP_0002693	Abnormal skull base morphology		
http://purl.obolibrary.org/obo/HP_0009752	Cleft in skull base	http://purl.obolibrary.org/obo/HP_0002693	Abnormal skull base morphology		
http://purl.obolibrary.org/obo/HP_0002677	Small foramen magnum	http://purl.obolibrary.org/obo/HP_0002699	Abnormal foramen magnum morphology		
http://purl.obolibrary.org/obo/HP_0002700	Large foramen magnum	http://purl.obolibrary.org/obo/HP_0002699	Abnormal foramen magnum morphology		
http://purl.obolibrary.org/obo/HP_0004330	Increased skull ossification	http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density		
http://purl.obolibrary.org/obo/HP_0004331	Decreased skull ossification	http://purl.obolibrary.org/obo/HP_0011849	Abnormal bone ossification		
http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology	http://purl.obolibrary.org/obo/HP_0002715	Abnormality of the immune system		
http://purl.obolibrary.org/obo/HP_0032251	Abnormal immune system morphology	http://purl.obolibrary.org/obo/HP_0002715	Abnormality of the immune system		
http://purl.obolibrary.org/obo/HP_0002205	Recurrent respiratory infections	http://purl.obolibrary.org/obo/HP_0011947	Respiratory tract infection		
http://purl.obolibrary.org/obo/HP_0002718	Recurrent bacterial infections	http://purl.obolibrary.org/obo/HP_0002719	Recurrent infections		
http://purl.obolibrary.org/obo/HP_0011110	Recurrent tonsillitis	http://purl.obolibrary.org/obo/HP_0100765	Abnormality of the tonsils		
http://purl.obolibrary.org/obo/HP_0005390	Recurrent opportunistic infections	http://purl.obolibrary.org/obo/HP_0031690	Opportunistic infection		
http://purl.obolibrary.org/obo/HP_0002732	Lymph node hypoplasia	http://purl.obolibrary.org/obo/HP_0002733	Abnormal lymph node morphology		
http://purl.obolibrary.org/obo/HP_0002716	Lymphadenopathy	http://purl.obolibrary.org/obo/HP_0002733	Abnormal lymph node morphology		
http://purl.obolibrary.org/obo/HP_0002840	Lymphadenitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0006463	Rickets of the lower limbs	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0005832	Dysharmonic delayed bone age	http://purl.obolibrary.org/obo/HP_0200000	Dysharmonic skeletal maturation		
http://purl.obolibrary.org/obo/HP_0100662	Chondritis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0100682	Tracheal atresia	http://purl.obolibrary.org/obo/HP_0002777	Tracheal stenosis		
http://purl.obolibrary.org/obo/HP_0002777	Tracheal stenosis	http://purl.obolibrary.org/obo/HP_0002778	Abnormal tracheal morphology		
http://purl.obolibrary.org/obo/HP_0002787	Tracheal calcification	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0010778	Tracheomegaly	http://purl.obolibrary.org/obo/HP_0002778	Abnormal tracheal morphology		
http://purl.obolibrary.org/obo/HP_0002104	Apnea	http://purl.obolibrary.org/obo/HP_0002793	Abnormal pattern of respiration		
http://purl.obolibrary.org/obo/HP_0002791	Hypoventilation	http://purl.obolibrary.org/obo/HP_0002793	Abnormal pattern of respiration		
http://purl.obolibrary.org/obo/HP_0002883	Hyperventilation	http://purl.obolibrary.org/obo/HP_0002793	Abnormal pattern of respiration		
http://purl.obolibrary.org/obo/HP_0002094	Dyspnea	http://purl.obolibrary.org/obo/HP_0002793	Abnormal pattern of respiration		
http://purl.obolibrary.org/obo/HP_0002789	Tachypnea	http://purl.obolibrary.org/obo/HP_0002793	Abnormal pattern of respiration		
http://purl.obolibrary.org/obo/HP_0002793	Abnormal pattern of respiration	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		
http://purl.obolibrary.org/obo/HP_0002835	Aspiration	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		
http://purl.obolibrary.org/obo/HP_0004347	Weakness of muscles of respiration	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0002093	Respiratory insufficiency	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		
http://purl.obolibrary.org/obo/HP_0002099	Asthma	http://purl.obolibrary.org/obo/HP_0100326	Immunologic hypersensitivity		
http://purl.obolibrary.org/obo/HP_0006536	Airway obstruction	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		
http://purl.obolibrary.org/obo/HP_0012415	Abnormal blood gas level	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		
http://purl.obolibrary.org/obo/HP_0012735	Cough	http://purl.obolibrary.org/obo/HP_0002795	Abnormal respiratory system physiology		
http://purl.obolibrary.org/obo/HP_0030875	Abnormality of pulmonary circulation	http://purl.obolibrary.org/obo/HP_0030163	Abnormal vascular physiology		
http://purl.obolibrary.org/obo/HP_0009139	Osteolysis involving bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0045039	Osteolysis involving bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0040070	Abnormal upper limb bone morphology		
http://purl.obolibrary.org/obo/HP_0000940	Abnormal diaphysis morphology	http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology		
http://purl.obolibrary.org/obo/HP_0000944	Abnormal metaphysis morphology	http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology		
http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology	http://purl.obolibrary.org/obo/HP_0002813	Abnormal limb bone morphology		
http://purl.obolibrary.org/obo/HP_0100257	Ectrodactyly	http://purl.obolibrary.org/obo/HP_0002813	Abnormal limb bone morphology		
http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0040070	Abnormal upper limb bone morphology	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0001437	Abnormality of the musculature of the lower limbs	http://purl.obolibrary.org/obo/HP_0009127	Abnormality of the musculature of the limbs		
http://purl.obolibrary.org/obo/HP_0001760	Abnormal foot morphology	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0002981	Abnormality of the calf	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0010496	Hypertrophy of the lower limb	http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb		
http://purl.obolibrary.org/obo/HP_0010741	Pedal edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0100559	Lower limb asymmetry	http://purl.obolibrary.org/obo/HP_0100555	Asymmetric growth		
http://purl.obolibrary.org/obo/HP_0001155	Abnormality of the hand	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0001446	Abnormality of the musculature of the upper limbs	http://purl.obolibrary.org/obo/HP_0009127	Abnormality of the musculature of the limbs		
http://purl.obolibrary.org/obo/HP_0001454	Abnormality of the upper arm	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0002973	Abnormal forearm morphology	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0003839	Abnormal upper limb epiphysis morphology	http://purl.obolibrary.org/obo/HP_0006505	Abnormal limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0006488	Bowing of the arm	http://purl.obolibrary.org/obo/HP_0006487	Bowing of the long bones		
http://purl.obolibrary.org/obo/HP_0009142	Duplication of bones involving the upper extremities	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0010484	Hypertrophy of the upper limb	http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb		
http://purl.obolibrary.org/obo/HP_0010742	Edema of the upper limbs	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0100560	Upper limb asymmetry	http://purl.obolibrary.org/obo/HP_0100555	Asymmetric growth		
http://purl.obolibrary.org/obo/HP_6000918	Transverse terminal upper limb defect	http://purl.obolibrary.org/obo/HP_6000818	Transverse terminal limb defect		
http://purl.obolibrary.org/obo/HP_0002974	Radioulnar synostosis	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		
http://purl.obolibrary.org/obo/HP_0006501	Aplasia/Hypoplasia of the radius	http://purl.obolibrary.org/obo/HP_0006503	Aplasia/hypoplasia involving forearm bones		
http://purl.obolibrary.org/obo/HP_0003976	Constricted radius	http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure		
http://purl.obolibrary.org/obo/HP_0003977	Deformed radius	http://purl.obolibrary.org/obo/HP_0003959	Deformed forearm bones		
http://purl.obolibrary.org/obo/HP_0003981	Broad radius	http://purl.obolibrary.org/obo/HP_0005622	Broad long bones		
http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology	http://purl.obolibrary.org/obo/HP_0003839	Abnormal upper limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0004015	Abnormal radial metaphysis morphology	http://purl.obolibrary.org/obo/HP_0009809	Abnormal upper limb metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0004027	Abnormality of radial diaphysis	http://purl.obolibrary.org/obo/HP_0009808	Anomaly of the upper limb diaphyses		
http://purl.obolibrary.org/obo/HP_0006424	Elongated radius	http://purl.obolibrary.org/obo/HP_0002818	Abnormal morphology of the radius		
http://purl.obolibrary.org/obo/HP_0006433	Radial ray deficiency	http://purl.obolibrary.org/obo/HP_0002818	Abnormal morphology of the radius		
http://purl.obolibrary.org/obo/HP_0045008	Abnormal shape of the radius	http://purl.obolibrary.org/obo/HP_0002818	Abnormal morphology of the radius		
http://purl.obolibrary.org/obo/HP_0002980	Femoral bowing	http://purl.obolibrary.org/obo/HP_0002979	Bowing of the legs		
http://purl.obolibrary.org/obo/HP_0003366	Abnormal femoral neck/head morphology	http://purl.obolibrary.org/obo/HP_0002823	Abnormal femur morphology		
http://purl.obolibrary.org/obo/HP_0005613	Aplasia/hypoplasia of the femur	http://purl.obolibrary.org/obo/HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0006489	Abnormal femoral metaphysis morphology	http://purl.obolibrary.org/obo/HP_0006490	Abnormal lower-limb metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0006499	Abnormal femoral epiphysis morphology	http://purl.obolibrary.org/obo/HP_0006500	Abnormal lower limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010443	Bifid femur	http://purl.obolibrary.org/obo/HP_0002823	Abnormal femur morphology		
http://purl.obolibrary.org/obo/HP_0002764	Stippled chondral calcification	http://purl.obolibrary.org/obo/HP_0100593	Calcification of cartilage		
http://purl.obolibrary.org/obo/HP_0000946	Hypoplastic ilia	http://purl.obolibrary.org/obo/HP_0002867	Abnormal ilium morphology		
http://purl.obolibrary.org/obo/HP_0200024	Premature chromatid separation	http://purl.obolibrary.org/obo/HP_0002916	Abnormality of chromosome segregation		
http://purl.obolibrary.org/obo/HP_0410310	Abnormality of neutrophil morphology in CSF	http://purl.obolibrary.org/obo/HP_0002921	Abnormal cerebrospinal fluid morphology		
http://purl.obolibrary.org/obo/HP_0000821	Hypothyroidism	http://purl.obolibrary.org/obo/HP_0002926	Abnormality of thyroid physiology		
http://purl.obolibrary.org/obo/HP_0000836	Hyperthyroidism	http://purl.obolibrary.org/obo/HP_0002926	Abnormality of thyroid physiology		
http://purl.obolibrary.org/obo/HP_0004635	Cervical C5/C6 vertebrae fusion	http://purl.obolibrary.org/obo/HP_0002949	Fused cervical vertebrae		
http://purl.obolibrary.org/obo/HP_0003059	Abnormality of the radioulnar joints	http://purl.obolibrary.org/obo/HP_0002973	Abnormal forearm morphology		
http://purl.obolibrary.org/obo/HP_0005632	Absent forearm	http://purl.obolibrary.org/obo/HP_0002973	Abnormal forearm morphology		
http://purl.obolibrary.org/obo/HP_0040072	Abnormal forearm bone morphology	http://purl.obolibrary.org/obo/HP_0040070	Abnormal upper limb bone morphology		
http://purl.obolibrary.org/obo/HP_0000609	Optic nerve hypoplasia	http://purl.obolibrary.org/obo/HP_0008058	Aplasia/Hypoplasia of the optic nerve		
http://purl.obolibrary.org/obo/HP_0006894	Hypoplastic olfactory lobes	http://purl.obolibrary.org/obo/HP_0025057	Abnormal olfactory lobe morphology		
http://purl.obolibrary.org/obo/HP_0007036	Hypoplasia of olfactory tract	http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system		
http://purl.obolibrary.org/obo/HP_0011000	Aplasia/Hypoplasia of the optic tract	http://purl.obolibrary.org/obo/HP_0002977	Aplasia/Hypoplasia involving the central nervous system		
http://purl.obolibrary.org/obo/HP_0012110	Hypoplasia of the pons	http://purl.obolibrary.org/obo/HP_0007361	Abnormal pons morphology		
http://purl.obolibrary.org/obo/HP_0012687	Agenesis of pineal gland	http://purl.obolibrary.org/obo/HP_0012681	Abnormal pineal morphology		
http://purl.obolibrary.org/obo/HP_0002982	Tibial bowing	http://purl.obolibrary.org/obo/HP_0002992	Abnormal tibia morphology		
http://purl.obolibrary.org/obo/HP_0002970	Genu varum	http://purl.obolibrary.org/obo/HP_0034669	Abnormal knee morphology		
http://purl.obolibrary.org/obo/HP_0010502	Fibular bowing	http://purl.obolibrary.org/obo/HP_0002991	Abnormal fibula morphology		
http://purl.obolibrary.org/obo/HP_0002979	Bowing of the legs	http://purl.obolibrary.org/obo/HP_0006487	Bowing of the long bones		
http://purl.obolibrary.org/obo/HP_0002991	Abnormal fibula morphology	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0002992	Abnormal tibia morphology	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0003085	Long fibula	http://purl.obolibrary.org/obo/HP_0002991	Abnormal fibula morphology		
http://purl.obolibrary.org/obo/HP_0003099	Fibular overgrowth	http://purl.obolibrary.org/obo/HP_0002991	Abnormal fibula morphology		
http://purl.obolibrary.org/obo/HP_0006492	Aplasia/Hypoplasia of the fibula	http://purl.obolibrary.org/obo/HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0005928	Synostosis involving the fibula	http://purl.obolibrary.org/obo/HP_0009138	Synostosis involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0010503	Fibular duplication	http://purl.obolibrary.org/obo/HP_0002991	Abnormal fibula morphology		
http://purl.obolibrary.org/obo/HP_0012107	Increased fibular diameter	http://purl.obolibrary.org/obo/HP_0005622	Broad long bones		
http://purl.obolibrary.org/obo/HP_0005772	Aplasia/Hypoplasia of the tibia	http://purl.obolibrary.org/obo/HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0005929	Synostosis involving the tibia	http://purl.obolibrary.org/obo/HP_0009138	Synostosis involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0006491	Abnormal tibial metaphysis morphology	http://purl.obolibrary.org/obo/HP_0006490	Abnormal lower-limb metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0006508	Abnormality of tibial epiphyses	http://purl.obolibrary.org/obo/HP_0006500	Abnormal lower limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010504	Increased length of the tibia	http://purl.obolibrary.org/obo/HP_0002992	Abnormal tibia morphology		
http://purl.obolibrary.org/obo/HP_0002987	Elbow flexion contracture	http://purl.obolibrary.org/obo/HP_0034391	Elbow contracture		
http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology	http://purl.obolibrary.org/obo/HP_0003011	Abnormality of the musculature		
http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology	http://purl.obolibrary.org/obo/HP_0003011	Abnormality of the musculature		
http://purl.obolibrary.org/obo/HP_0003856	Upper limb metaphyseal widening	http://purl.obolibrary.org/obo/HP_0009809	Abnormal upper limb metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003038	Fibular hypoplasia	http://purl.obolibrary.org/obo/HP_0006492	Aplasia/Hypoplasia of the fibula		
http://purl.obolibrary.org/obo/HP_0003097	Short femur	http://purl.obolibrary.org/obo/HP_0005613	Aplasia/hypoplasia of the femur		
http://purl.obolibrary.org/obo/HP_0009821	Forearm undergrowth	http://purl.obolibrary.org/obo/HP_0009824	Upper limb undergrowth		
http://purl.obolibrary.org/obo/HP_0005736	Short tibia	http://purl.obolibrary.org/obo/HP_0005772	Aplasia/Hypoplasia of the tibia		
http://purl.obolibrary.org/obo/HP_0005792	Short humerus	http://purl.obolibrary.org/obo/HP_0006507	Aplasia/hypoplasia of the humerus		
http://purl.obolibrary.org/obo/HP_0010049	Short metacarpal	http://purl.obolibrary.org/obo/HP_0005914	Aplasia/Hypoplasia involving the metacarpal bones		
http://purl.obolibrary.org/obo/HP_0003860	Diaphyseal sclerosis of the upper limbs	http://purl.obolibrary.org/obo/HP_0009808	Anomaly of the upper limb diaphyses		
http://purl.obolibrary.org/obo/HP_0003973	Wide radioulnar joints	http://purl.obolibrary.org/obo/HP_0003059	Abnormality of the radioulnar joints		
http://purl.obolibrary.org/obo/HP_0006247	Enlarged interphalangeal joints	http://purl.obolibrary.org/obo/HP_0006261	Abnormal phalangeal joint morphology of the hand		
http://purl.obolibrary.org/obo/HP_0006442	Hypoplasia of proximal fibula	http://purl.obolibrary.org/obo/HP_0003038	Fibular hypoplasia		
http://purl.obolibrary.org/obo/HP_0003834	Shoulder dislocation	http://purl.obolibrary.org/obo/HP_0030310	Upper extremity joint dislocation		
http://purl.obolibrary.org/obo/HP_0003836	Stippled calcification of the shoulder	http://purl.obolibrary.org/obo/HP_0003043	Abnormal shoulder morphology		
http://purl.obolibrary.org/obo/HP_0200021	Down-sloping shoulders	http://purl.obolibrary.org/obo/HP_0003043	Abnormal shoulder morphology		
http://purl.obolibrary.org/obo/HP_0034665	Shoulder contracture	http://purl.obolibrary.org/obo/HP_0100360	Upper-limb joint contracture		
http://purl.obolibrary.org/obo/HP_0002999	Patellar dislocation	http://purl.obolibrary.org/obo/HP_0030311	Lower extremity joint dislocation		
http://purl.obolibrary.org/obo/HP_0006498	Aplasia/Hypoplasia of the patella	http://purl.obolibrary.org/obo/HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0006369	Irregular patellae	http://purl.obolibrary.org/obo/HP_0003045	Abnormal patella morphology		
http://purl.obolibrary.org/obo/HP_0006378	Osteolysis of patellae	http://purl.obolibrary.org/obo/HP_0009139	Osteolysis involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0006446	Dysplastic patella	http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure		
http://purl.obolibrary.org/obo/HP_0006454	Delayed patellar ossification	http://purl.obolibrary.org/obo/HP_0003336	Abnormal enchondral ossification		
http://purl.obolibrary.org/obo/HP_0003910	Enlarged humeral metaphyses	http://purl.obolibrary.org/obo/HP_0003907	Abnormal humeral metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003895	Flattened humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003891	Abnormal humeral epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0004002	Flattened radial epiphyses	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0005715	Flattened knee epiphyses	http://purl.obolibrary.org/obo/HP_0034669	Abnormal knee morphology		
http://purl.obolibrary.org/obo/HP_0030289	Flattened femoral epiphysis	http://purl.obolibrary.org/obo/HP_0003071	Flattened epiphysis		
http://purl.obolibrary.org/obo/HP_0005067	Proximal fibular overgrowth	http://purl.obolibrary.org/obo/HP_0003099	Fibular overgrowth		
http://purl.obolibrary.org/obo/HP_0003124	Hypercholesterolemia	http://purl.obolibrary.org/obo/HP_0003107	Abnormal circulating cholesterol concentration		
http://purl.obolibrary.org/obo/HP_0003146	Hypocholesterolemia	http://purl.obolibrary.org/obo/HP_0003107	Abnormal circulating cholesterol concentration		
http://purl.obolibrary.org/obo/HP_0010979	Abnormality of lipoprotein cholesterol concentration	http://purl.obolibrary.org/obo/HP_0003107	Abnormal circulating cholesterol concentration		
http://purl.obolibrary.org/obo/HP_0012591	Abnormal urinary electrolyte concentration	http://purl.obolibrary.org/obo/HP_0003110	Abnormality of urine homeostasis		
http://purl.obolibrary.org/obo/HP_0012614	Abnormal urine cytology	http://purl.obolibrary.org/obo/HP_0003110	Abnormality of urine homeostasis		
http://purl.obolibrary.org/obo/HP_0011422	Abnormal blood chloride concentration	http://purl.obolibrary.org/obo/HP_0003111	Abnormal blood ion concentration		
http://purl.obolibrary.org/obo/HP_0100529	Abnormal blood phosphate concentration	http://purl.obolibrary.org/obo/HP_0003111	Abnormal blood ion concentration		
http://purl.obolibrary.org/obo/HP_0010929	Abnormal blood cation concentration	http://purl.obolibrary.org/obo/HP_0003111	Abnormal blood ion concentration		
http://purl.obolibrary.org/obo/HP_0011043	Abnormal circulating adrenocorticotropin concentration	http://purl.obolibrary.org/obo/HP_0003117	Abnormal circulating hormone concentration		
http://purl.obolibrary.org/obo/HP_0012111	Abnormality of circulating glucocorticoid level	http://purl.obolibrary.org/obo/HP_0003117	Abnormal circulating hormone concentration		
http://purl.obolibrary.org/obo/HP_0003077	Hyperlipidemia	http://purl.obolibrary.org/obo/HP_0003119	Abnormal circulating lipid concentration		
http://purl.obolibrary.org/obo/HP_0004359	Abnormal circulating fatty-acid concentration	http://purl.obolibrary.org/obo/HP_0003119	Abnormal circulating lipid concentration		
http://purl.obolibrary.org/obo/HP_0004925	Chronic lactic acidosis	http://purl.obolibrary.org/obo/HP_0012468	Chronic acidosis		
http://purl.obolibrary.org/obo/HP_0003380	Decreased number of peripheral myelinated nerve fibers	http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination		
http://purl.obolibrary.org/obo/HP_0003469	Peripheral dysmyelination	http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination		
http://purl.obolibrary.org/obo/HP_0011096	Peripheral demyelination	http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination		
http://purl.obolibrary.org/obo/HP_0007182	Peripheral hypomyelination	http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination		
http://purl.obolibrary.org/obo/HP_0011401	Delayed peripheral myelination	http://purl.obolibrary.org/obo/HP_0012448	Delayed myelination		
http://purl.obolibrary.org/obo/HP_0030173	Peripheral hypermyelination	http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination		
http://purl.obolibrary.org/obo/HP_0030172	Peripheral amyelination	http://purl.obolibrary.org/obo/HP_0003130	Abnormal peripheral myelination		
http://purl.obolibrary.org/obo/HP_0002503	Spinocerebellar tract degeneration	http://purl.obolibrary.org/obo/HP_0003133	Abnormal spinocerebellar tract morphology		
http://purl.obolibrary.org/obo/HP_0003179	Protrusio acetabuli	http://purl.obolibrary.org/obo/HP_0003170	Abnormal acetabulum morphology		
http://purl.obolibrary.org/obo/HP_0003274	Hypoplastic acetabulae	http://purl.obolibrary.org/obo/HP_0003170	Abnormal acetabulum morphology		
http://purl.obolibrary.org/obo/HP_0008807	Acetabular dysplasia	http://purl.obolibrary.org/obo/HP_0003170	Abnormal acetabulum morphology		
http://purl.obolibrary.org/obo/HP_0009104	Aplasia/Hypoplasia of the pubic bone	http://purl.obolibrary.org/obo/HP_0009103	Aplasia/Hypoplasia involving the pelvis		
http://purl.obolibrary.org/obo/HP_0009105	Abnormal ossification of the pubic bone	http://purl.obolibrary.org/obo/HP_0009106	Abnormal pelvis bone ossification		
http://purl.obolibrary.org/obo/HP_0003175	Hypoplastic ischia	http://purl.obolibrary.org/obo/HP_0003174	Abnormal ischium morphology		
http://purl.obolibrary.org/obo/HP_0100865	Broad ischia	http://purl.obolibrary.org/obo/HP_0003174	Abnormal ischium morphology		
http://purl.obolibrary.org/obo/HP_0003756	Skeletal myopathy	http://purl.obolibrary.org/obo/HP_0003198	Myopathy		
http://purl.obolibrary.org/obo/HP_0001717	Coronary artery calcification	http://purl.obolibrary.org/obo/HP_0006704	Abnormal coronary artery morphology		
http://purl.obolibrary.org/obo/HP_0004940	Generalized arterial calcification	http://purl.obolibrary.org/obo/HP_0003207	Arterial calcification		
http://purl.obolibrary.org/obo/HP_0012456	Medial arterial calcification	http://purl.obolibrary.org/obo/HP_0003207	Arterial calcification		
http://purl.obolibrary.org/obo/HP_0012120	Methylmalonic aciduria	http://purl.obolibrary.org/obo/HP_0003215	Dicarboxylic aciduria		
http://purl.obolibrary.org/obo/HP_0010989	Abnormality of the intrinsic pathway	http://purl.obolibrary.org/obo/HP_0003256	Abnormality of the coagulation cascade		
http://purl.obolibrary.org/obo/HP_0010990	Abnormality of the common coagulation pathway	http://purl.obolibrary.org/obo/HP_0003256	Abnormality of the coagulation cascade		
http://purl.obolibrary.org/obo/HP_0010988	Abnormality of the extrinsic pathway	http://purl.obolibrary.org/obo/HP_0003256	Abnormality of the coagulation cascade		
http://purl.obolibrary.org/obo/HP_0001538	Protuberant abdomen	http://purl.obolibrary.org/obo/HP_0003270	Abdominal distention		
http://purl.obolibrary.org/obo/HP_0001744	Splenomegaly	http://purl.obolibrary.org/obo/HP_0025408	Abnormal spleen morphology		
http://purl.obolibrary.org/obo/HP_0001384	Abnormal hip joint morphology	http://purl.obolibrary.org/obo/HP_0100491	Abnormality of lower limb joint		
http://purl.obolibrary.org/obo/HP_0001385	Hip dysplasia	http://purl.obolibrary.org/obo/HP_0003272	Abnormal hip bone morphology		
http://purl.obolibrary.org/obo/HP_0002867	Abnormal ilium morphology	http://purl.obolibrary.org/obo/HP_0003272	Abnormal hip bone morphology		
http://purl.obolibrary.org/obo/HP_0003172	Abnormal pubic bone morphology	http://purl.obolibrary.org/obo/HP_0003272	Abnormal hip bone morphology		
http://purl.obolibrary.org/obo/HP_0003174	Abnormal ischium morphology	http://purl.obolibrary.org/obo/HP_0003272	Abnormal hip bone morphology		
http://purl.obolibrary.org/obo/HP_0008306	Abnormal iron deposition in mitochondria	http://purl.obolibrary.org/obo/HP_0003287	Abnormality of mitochondrial metabolism		
http://purl.obolibrary.org/obo/HP_0008316	Abnormal mitochondria in muscle tissue	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0011922	Abnormal activity of mitochondrial respiratory chain	http://purl.obolibrary.org/obo/HP_0003287	Abnormality of mitochondrial metabolism		
http://purl.obolibrary.org/obo/HP_0004586	Biconcave vertebral bodies	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0008428	Vertebral clefting	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0008479	Hypoplastic vertebral bodies	http://purl.obolibrary.org/obo/HP_0008417	Vertebral hypoplasia		
http://purl.obolibrary.org/obo/HP_0000926	Platyspondyly	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0004566	Pear-shaped vertebrae	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0004570	Increased vertebral height	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0004582	Irregularity of vertebral bodies	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0004591	Disc-like vertebral bodies	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0008437	Bifid thoracic vertebrae	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0008438	Vertebral arch anomaly	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0008516	Abnormality of the vertebral spinous processes	http://purl.obolibrary.org/obo/HP_0003312	Abnormal form of the vertebral bodies		
http://purl.obolibrary.org/obo/HP_0000470	Short neck	http://purl.obolibrary.org/obo/HP_0025668	Abnormal neck morphology		
http://purl.obolibrary.org/obo/HP_0003318	Cervical spine hypermobility	http://purl.obolibrary.org/obo/HP_0003319	Abnormality of the cervical spine		
http://purl.obolibrary.org/obo/HP_0008440	C1-C2 vertebral abnormality	http://purl.obolibrary.org/obo/HP_0003319	Abnormality of the cervical spine		
http://purl.obolibrary.org/obo/HP_0003749	Pelvic girdle muscle weakness	http://purl.obolibrary.org/obo/HP_0003325	Limb-girdle muscle weakness		
http://purl.obolibrary.org/obo/HP_0002797	Osteolysis	http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure		
http://purl.obolibrary.org/obo/HP_0011849	Abnormal bone ossification	http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure		
http://purl.obolibrary.org/obo/HP_0011862	Abnormal bone collagen fibril morphology	http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure		
http://purl.obolibrary.org/obo/HP_0010656	Abnormal epiphyseal ossification	http://purl.obolibrary.org/obo/HP_0003336	Abnormal enchondral ossification		
http://purl.obolibrary.org/obo/HP_0004020	Irregular ossification of the radial metaphysis	http://purl.obolibrary.org/obo/HP_0004015	Abnormal radial metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0009107	Abnormal ossification involving the femoral head and neck	http://purl.obolibrary.org/obo/HP_0003366	Abnormal femoral neck/head morphology		
http://purl.obolibrary.org/obo/HP_0010660	Abnormal hand bone ossification	http://purl.obolibrary.org/obo/HP_0005922	Abnormal hand morphology		
http://purl.obolibrary.org/obo/HP_0100569	Abnormally ossified vertebrae	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		
http://purl.obolibrary.org/obo/HP_0012791	Abnormal humeral ossification	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003367	Abnormal femoral neck morphology	http://purl.obolibrary.org/obo/HP_0003366	Abnormal femoral neck/head morphology		
http://purl.obolibrary.org/obo/HP_0003368	Abnormal femoral head morphology	http://purl.obolibrary.org/obo/HP_0003366	Abnormal femoral neck/head morphology		
http://purl.obolibrary.org/obo/HP_0009108	Aplasia/Hypoplasia involving the femoral head and neck	http://purl.obolibrary.org/obo/HP_0009103	Aplasia/Hypoplasia involving the pelvis		
http://purl.obolibrary.org/obo/HP_0002673	Coxa valga	http://purl.obolibrary.org/obo/HP_0003367	Abnormal femoral neck morphology		
http://purl.obolibrary.org/obo/HP_0002812	Coxa vara	http://purl.obolibrary.org/obo/HP_0003367	Abnormal femoral neck morphology		
http://purl.obolibrary.org/obo/HP_0006429	Broad femoral neck	http://purl.obolibrary.org/obo/HP_0003367	Abnormal femoral neck morphology		
http://purl.obolibrary.org/obo/HP_0008819	Narrow femoral neck	http://purl.obolibrary.org/obo/HP_0003367	Abnormal femoral neck morphology		
http://purl.obolibrary.org/obo/HP_0100864	Short femoral neck	http://purl.obolibrary.org/obo/HP_0009108	Aplasia/Hypoplasia involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0010574	Abnormality of the epiphysis of the femoral head	http://purl.obolibrary.org/obo/HP_0006499	Abnormal femoral epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0008802	Hypoplasia of the femoral head	http://purl.obolibrary.org/obo/HP_0009108	Aplasia/Hypoplasia involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0008812	Flattened femoral head	http://purl.obolibrary.org/obo/HP_0003368	Abnormal femoral head morphology		
http://purl.obolibrary.org/obo/HP_0008829	Delayed femoral head ossification	http://purl.obolibrary.org/obo/HP_0009107	Abnormal ossification involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0010575	Dysplasia of the femoral head	http://purl.obolibrary.org/obo/HP_0003368	Abnormal femoral head morphology		
http://purl.obolibrary.org/obo/HP_0003473	Fatigable weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0003414	Atlantoaxial dislocation	http://purl.obolibrary.org/obo/HP_0003413	Atlantoaxial abnormality		
http://purl.obolibrary.org/obo/HP_0004610	Lumbar spinal canal stenosis	http://purl.obolibrary.org/obo/HP_0003416	Spinal canal stenosis		
http://purl.obolibrary.org/obo/HP_0008445	Cervical spinal canal stenosis	http://purl.obolibrary.org/obo/HP_0003416	Spinal canal stenosis		
http://purl.obolibrary.org/obo/HP_0002948	Vertebral fusion	http://purl.obolibrary.org/obo/HP_0100240	Synostosis of joints		
http://purl.obolibrary.org/obo/HP_0008490	Sacral segmentation defect	http://purl.obolibrary.org/obo/HP_0005107	Abnormal sacrum morphology		
http://purl.obolibrary.org/obo/HP_0006808	Cerebral hypomyelination	http://purl.obolibrary.org/obo/HP_0003429	CNS hypomyelination		
http://purl.obolibrary.org/obo/HP_0003422	Vertebral segmentation defect	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		
http://purl.obolibrary.org/obo/HP_0004589	Dysplasia of second lumbar vertebra	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		
http://purl.obolibrary.org/obo/HP_0008420	Punctate vertebral calcifications	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		
http://purl.obolibrary.org/obo/HP_0008442	Vertebral hyperostosis	http://purl.obolibrary.org/obo/HP_0100774	Hyperostosis		
http://purl.obolibrary.org/obo/HP_0008515	Aplasia/Hypoplasia of the vertebrae	http://purl.obolibrary.org/obo/HP_0008518	Aplasia/Hypoplasia involving the vertebral column		
http://purl.obolibrary.org/obo/HP_0030304	Abnormal number of vertebrae	http://purl.obolibrary.org/obo/HP_0003468	Abnormal vertebral morphology		
http://purl.obolibrary.org/obo/HP_0005508	Monoclonal immunoglobulin M proteinemia	http://purl.obolibrary.org/obo/HP_0005523	Lymphoproliferative disorder		
http://purl.obolibrary.org/obo/HP_0003521	Disproportionate short-trunk short stature	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0008873	Disproportionate short-limb short stature	http://purl.obolibrary.org/obo/HP_0003498	Disproportionate short stature		
http://purl.obolibrary.org/obo/HP_0003510	Severe short stature	http://purl.obolibrary.org/obo/HP_0003508	Proportionate short stature		
http://purl.obolibrary.org/obo/HP_0008155	Mucopolysacchariduria	http://purl.obolibrary.org/obo/HP_0003541	Urinary glycosaminoglycan excretion		
http://purl.obolibrary.org/obo/HP_0009124	Abnormal adipose tissue morphology	http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue		
http://purl.obolibrary.org/obo/HP_0100790	Hernia	http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue		
http://purl.obolibrary.org/obo/HP_0034392	Joint contracture	http://purl.obolibrary.org/obo/HP_0100261	Abnormal tendon morphology		
http://purl.obolibrary.org/obo/HP_0009025	Increased connective tissue	http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue		
http://purl.obolibrary.org/obo/HP_0100536	Abnormal fascia morphology	http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue		
http://purl.obolibrary.org/obo/HP_0007156	Asymmetric limb muscle stiffness	http://purl.obolibrary.org/obo/HP_0009127	Abnormality of the musculature of the limbs		
http://purl.obolibrary.org/obo/HP_0003584	Late onset	http://purl.obolibrary.org/obo/HP_0003581	Adult onset		
http://purl.obolibrary.org/obo/HP_0003596	Middle age onset	http://purl.obolibrary.org/obo/HP_0003581	Adult onset		
http://purl.obolibrary.org/obo/HP_0011462	Young adult onset	http://purl.obolibrary.org/obo/HP_0003581	Adult onset		
http://purl.obolibrary.org/obo/HP_0009056	Loss of subcutaneous adipose tissue from upper limbs	http://purl.obolibrary.org/obo/HP_0003635	Loss of subcutaneous adipose tissue in limbs		
http://purl.obolibrary.org/obo/HP_0004342	Abnormal galactosidase enyzme activity	http://purl.obolibrary.org/obo/HP_0003649	Abnormal glycosidase enzyme activity		
http://purl.obolibrary.org/obo/HP_0003484	Upper limb muscle weakness	http://purl.obolibrary.org/obo/HP_0003690	Limb muscle weakness		
http://purl.obolibrary.org/obo/HP_0008994	Proximal lower limb muscle weakness	http://purl.obolibrary.org/obo/HP_0003701	Proximal muscle weakness		
http://purl.obolibrary.org/obo/HP_0007340	Lower limb muscle weakness	http://purl.obolibrary.org/obo/HP_0003690	Limb muscle weakness		
http://purl.obolibrary.org/obo/HP_0007149	Distal upper limb amyotrophy	http://purl.obolibrary.org/obo/HP_0009129	Upper limb amyotrophy		
http://purl.obolibrary.org/obo/HP_0008944	Distal lower limb amyotrophy	http://purl.obolibrary.org/obo/HP_0007210	Lower limb amyotrophy		
http://purl.obolibrary.org/obo/HP_0009055	Generalized limb muscle atrophy	http://purl.obolibrary.org/obo/HP_0003700	Generalized amyotrophy		
http://purl.obolibrary.org/obo/HP_0000158	Macroglossia	http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology		
http://purl.obolibrary.org/obo/HP_0003720	Generalized muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0003712	Skeletal muscle hypertrophy		
http://purl.obolibrary.org/obo/HP_0012893	Neck muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0011006	Abnormal morphology of the musculature of the neck		
http://purl.obolibrary.org/obo/HP_0012895	Scapular muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0003712	Skeletal muscle hypertrophy		
http://purl.obolibrary.org/obo/HP_0005320	Lack of facial subcutaneous fat	http://purl.obolibrary.org/obo/HP_0003717	Minimal subcutaneous fat		
http://purl.obolibrary.org/obo/HP_0012515	Hip flexor weakness	http://purl.obolibrary.org/obo/HP_0003749	Pelvic girdle muscle weakness		
http://purl.obolibrary.org/obo/HP_0003717	Minimal subcutaneous fat	http://purl.obolibrary.org/obo/HP_0003758	Reduced subcutaneous adipose tissue		
http://purl.obolibrary.org/obo/HP_0005995	Decreased adipose tissue around neck	http://purl.obolibrary.org/obo/HP_0003758	Reduced subcutaneous adipose tissue		
http://purl.obolibrary.org/obo/HP_0006302	Dagger-shaped pulp calcifications	http://purl.obolibrary.org/obo/HP_0003771	Pulp calcification		
http://purl.obolibrary.org/obo/HP_0008083	2nd-5th toe middle phalangeal hypoplasia	http://purl.obolibrary.org/obo/HP_0003795	Short middle phalanx of toe		
http://purl.obolibrary.org/obo/HP_0003724	Shoulder girdle muscle atrophy	http://purl.obolibrary.org/obo/HP_0003797	Limb-girdle muscle atrophy		
http://purl.obolibrary.org/obo/HP_0008946	Pelvic girdle amyotrophy	http://purl.obolibrary.org/obo/HP_0003797	Limb-girdle muscle atrophy		
http://purl.obolibrary.org/obo/HP_0003737	Mitochondrial myopathy	http://purl.obolibrary.org/obo/HP_0003800	Muscle abnormality related to mitochondrial dysfunction		
http://purl.obolibrary.org/obo/HP_0001252	Hypotonia	http://purl.obolibrary.org/obo/HP_0003808	Abnormal muscle tone		
http://purl.obolibrary.org/obo/HP_0001276	Hypertonia	http://purl.obolibrary.org/obo/HP_0003808	Abnormal muscle tone		
http://purl.obolibrary.org/obo/HP_0003843	Round epiphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003839	Abnormal upper limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003844	Small epiphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0010585	Small epiphyses		
http://purl.obolibrary.org/obo/HP_0003891	Abnormal humeral epiphysis morphology	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003904	Wide epiphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0010580	Enlarged epiphyses		
http://purl.obolibrary.org/obo/HP_0004037	Abnormal ulnar epiphysis morphology	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		
http://purl.obolibrary.org/obo/HP_0005924	Abnormal hand epiphysis morphology	http://purl.obolibrary.org/obo/HP_0005922	Abnormal hand morphology		
http://purl.obolibrary.org/obo/HP_0003894	Delayed humeral epiphyseal ossification	http://purl.obolibrary.org/obo/HP_0003891	Abnormal humeral epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003947	Delayed elbow epiphyseal ossification	http://purl.obolibrary.org/obo/HP_0003946	Abnormal elbow epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003899	Round humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003891	Abnormal humeral epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003900	Small humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003891	Abnormal humeral epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0004026	Broad radial metaphysis	http://purl.obolibrary.org/obo/HP_0004015	Abnormal radial metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0004047	Wide ulnar metaphysis	http://purl.obolibrary.org/obo/HP_0004039	Abnormal ulnar metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003933	Sclerosis of humeral diaphysis	http://purl.obolibrary.org/obo/HP_0003926	Abnormal humeral diaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003935	Wide humeral diaphysis	http://purl.obolibrary.org/obo/HP_0003926	Abnormal humeral diaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003892	Absent humeral epiphyseal ossification	http://purl.obolibrary.org/obo/HP_0012791	Abnormal humeral ossification		
http://purl.obolibrary.org/obo/HP_0003893	Advanced ossification of the humeral epiphysis	http://purl.obolibrary.org/obo/HP_0010656	Abnormal epiphyseal ossification		
http://purl.obolibrary.org/obo/HP_0003897	Irregular ossification of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0012791	Abnormal humeral ossification		
http://purl.obolibrary.org/obo/HP_0003898	Large humeral epiphyses	http://purl.obolibrary.org/obo/HP_0010580	Enlarged epiphyses		
http://purl.obolibrary.org/obo/HP_0003901	Stippled calcification of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003891	Abnormal humeral epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003903	Broad humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003904	Wide epiphyses of the upper limbs		
http://purl.obolibrary.org/obo/HP_0010598	Abnormality of the proximal humeral epiphysis	http://purl.obolibrary.org/obo/HP_0003891	Abnormal humeral epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010599	Abnormal distal humeral epiphysis morphology	http://purl.obolibrary.org/obo/HP_0003946	Abnormal elbow epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003902	Epiphyseal stippling of the humerus	http://purl.obolibrary.org/obo/HP_0010655	Epiphyseal stippling		
http://purl.obolibrary.org/obo/HP_0004997	Multicentric ossification of proximal humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003897	Irregular ossification of the humeral epiphyses		
http://purl.obolibrary.org/obo/HP_0008838	Stippled calcification proximal humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003901	Stippled calcification of the humeral epiphyses		
http://purl.obolibrary.org/obo/HP_0003914	Irregular ossification of humeral metaphyses	http://purl.obolibrary.org/obo/HP_0012791	Abnormal humeral ossification		
http://purl.obolibrary.org/obo/HP_0003918	Sclerotic humeral metaphysis	http://purl.obolibrary.org/obo/HP_0003907	Abnormal humeral metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003920	Sloping humeral metaphysis	http://purl.obolibrary.org/obo/HP_0003907	Abnormal humeral metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003924	Stippled calcification of humeral metaphysis	http://purl.obolibrary.org/obo/HP_0003907	Abnormal humeral metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0005825	Mixed sclerosis of humeral metaphyses	http://purl.obolibrary.org/obo/HP_0003918	Sclerotic humeral metaphysis		
http://purl.obolibrary.org/obo/HP_0003889	Abnormal deltoid tuberosity morphology	http://purl.obolibrary.org/obo/HP_0003926	Abnormal humeral diaphysis morphology		
http://purl.obolibrary.org/obo/HP_0003944	Narrow joint spaces of the elbow	http://purl.obolibrary.org/obo/HP_0003943	Abnormality of the joint spaces of the elbow		
http://purl.obolibrary.org/obo/HP_0010596	Abnormal proximal radial epiphysis morphology	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010601	Abnormal proximal ulnar epiphysis morphology	http://purl.obolibrary.org/obo/HP_0004037	Abnormal ulnar epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003974	Absent radius	http://purl.obolibrary.org/obo/HP_0009822	Aplasia involving forearm bones		
http://purl.obolibrary.org/obo/HP_0003982	Aplasia of the ulna	http://purl.obolibrary.org/obo/HP_0009822	Aplasia involving forearm bones		
http://purl.obolibrary.org/obo/HP_0002986	Radial bowing	http://purl.obolibrary.org/obo/HP_0045008	Abnormal shape of the radius		
http://purl.obolibrary.org/obo/HP_0003031	Ulnar bowing	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		
http://purl.obolibrary.org/obo/HP_0004260	Large hamate bone	http://purl.obolibrary.org/obo/HP_0004237	Large carpal bones		
http://purl.obolibrary.org/obo/HP_0005263	Gastritis	http://purl.obolibrary.org/obo/HP_0004295	Abnormal gastric mucosa morphology		
http://purl.obolibrary.org/obo/HP_0000471	Gastrointestinal angiodysplasia	http://purl.obolibrary.org/obo/HP_0004296	Abnormal gastrointestinal vascular morphology		
http://purl.obolibrary.org/obo/HP_0001080	Biliary tract abnormality	http://purl.obolibrary.org/obo/HP_0004297	Abnormality of the biliary system		
http://purl.obolibrary.org/obo/HP_0001396	Cholestasis	http://purl.obolibrary.org/obo/HP_0004297	Abnormality of the biliary system		
http://purl.obolibrary.org/obo/HP_0005264	Abnormality of the gallbladder	http://purl.obolibrary.org/obo/HP_0004297	Abnormality of the biliary system		
http://purl.obolibrary.org/obo/HP_0006580	Portal fibrosis	http://purl.obolibrary.org/obo/HP_0004297	Abnormality of the biliary system		
http://purl.obolibrary.org/obo/HP_0001551	Abnormal umbilicus morphology	http://purl.obolibrary.org/obo/HP_0004298	Abnormal abdominal wall morphology		
http://purl.obolibrary.org/obo/HP_0010866	Abdominal wall defect	http://purl.obolibrary.org/obo/HP_0004298	Abnormal abdominal wall morphology		
http://purl.obolibrary.org/obo/HP_0010991	Abnormal morphology of the abdominal musculature	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0001539	Omphalocele	http://purl.obolibrary.org/obo/HP_0004299	Hernia of the abdominal wall		
http://purl.obolibrary.org/obo/HP_0002933	Ventral hernia	http://purl.obolibrary.org/obo/HP_0004299	Hernia of the abdominal wall		
http://purl.obolibrary.org/obo/HP_0000023	Inguinal hernia	http://purl.obolibrary.org/obo/HP_0004299	Hernia of the abdominal wall		
http://purl.obolibrary.org/obo/HP_0003713	Muscle fiber necrosis	http://purl.obolibrary.org/obo/HP_0004303	Abnormal muscle fiber morphology		
http://purl.obolibrary.org/obo/HP_0012084	Abnormality of skeletal muscle fiber size	http://purl.obolibrary.org/obo/HP_0004303	Abnormal muscle fiber morphology		
http://purl.obolibrary.org/obo/HP_0100295	Muscle fiber atrophy	http://purl.obolibrary.org/obo/HP_0004303	Abnormal muscle fiber morphology		
http://purl.obolibrary.org/obo/HP_0001336	Myoclonus	http://purl.obolibrary.org/obo/HP_0004305	Involuntary movements		
http://purl.obolibrary.org/obo/HP_0001337	Tremor	http://purl.obolibrary.org/obo/HP_0004305	Involuntary movements		
http://purl.obolibrary.org/obo/HP_0002072	Chorea	http://purl.obolibrary.org/obo/HP_0004305	Involuntary movements		
http://purl.obolibrary.org/obo/HP_0006685	Endocardial fibrosis	http://purl.obolibrary.org/obo/HP_0004306	Abnormal endocardium morphology		
http://purl.obolibrary.org/obo/HP_0100584	Endocarditis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0001651	Dextrocardia	http://purl.obolibrary.org/obo/HP_0004307	Abnormal anatomic location of the heart		
http://purl.obolibrary.org/obo/HP_0030326	Abnormal macrophage count	http://purl.obolibrary.org/obo/HP_0004311	Abnormal macrophage morphology		
http://purl.obolibrary.org/obo/HP_0001896	Reticulocytopenia	http://purl.obolibrary.org/obo/HP_0004312	Abnormal reticulocyte morphology		
http://purl.obolibrary.org/obo/HP_0001923	Reticulocytosis	http://purl.obolibrary.org/obo/HP_0004312	Abnormal reticulocyte morphology		
http://purl.obolibrary.org/obo/HP_0001508	Failure to thrive	http://purl.obolibrary.org/obo/HP_0004325	Decreased body weight		
http://purl.obolibrary.org/obo/HP_0001824	Weight loss	http://purl.obolibrary.org/obo/HP_0004325	Decreased body weight		
http://purl.obolibrary.org/obo/HP_0007773	Vitreoretinopathy	http://purl.obolibrary.org/obo/HP_0004327	Abnormal vitreous humor morphology		
http://purl.obolibrary.org/obo/HP_0000481	Abnormal cornea morphology	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0000517	Abnormal lens morphology	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0000593	Abnormal anterior chamber morphology	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0007700	Ocular anterior segment dysgenesis	http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0004327	Abnormal vitreous humor morphology	http://purl.obolibrary.org/obo/HP_0004329	Abnormal posterior eye segment morphology		
http://purl.obolibrary.org/obo/HP_0004563	Increased spinal bone density	http://purl.obolibrary.org/obo/HP_0004330	Increased skull ossification		
http://purl.obolibrary.org/obo/HP_0002843	Abnormal T cell morphology	http://purl.obolibrary.org/obo/HP_0004332	Abnormal lymphocyte morphology		
http://purl.obolibrary.org/obo/HP_0002846	Abnormal B cell morphology	http://purl.obolibrary.org/obo/HP_0004332	Abnormal lymphocyte morphology		
http://purl.obolibrary.org/obo/HP_0012176	Abnormal natural killer cell morphology	http://purl.obolibrary.org/obo/HP_0004332	Abnormal lymphocyte morphology		
http://purl.obolibrary.org/obo/HP_0010901	Abnormal circulating methionine concentration	http://purl.obolibrary.org/obo/HP_0010899	Abnormal circulating aspartate family amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010919	Abnormal circulating homocysteine concentration	http://purl.obolibrary.org/obo/HP_0004339	Abnormal circulating sulfur amino acid concentration		
http://purl.obolibrary.org/obo/HP_0002912	Methylmalonic acidemia	http://purl.obolibrary.org/obo/HP_0032368	Acidemia		
http://purl.obolibrary.org/obo/HP_0040126	Abnormal circulating vitamin B12 concentration	http://purl.obolibrary.org/obo/HP_0004341	Abnormality of vitamin B12 metabolism		
http://purl.obolibrary.org/obo/HP_0000938	Osteopenia	http://purl.obolibrary.org/obo/HP_0004349	Reduced bone mineral density		
http://purl.obolibrary.org/obo/HP_0000939	Osteoporosis	http://purl.obolibrary.org/obo/HP_0004349	Reduced bone mineral density		
http://purl.obolibrary.org/obo/HP_0002748	Rickets	http://purl.obolibrary.org/obo/HP_0004349	Reduced bone mineral density		
http://purl.obolibrary.org/obo/HP_0002749	Osteomalacia	http://purl.obolibrary.org/obo/HP_0004349	Reduced bone mineral density		
http://purl.obolibrary.org/obo/HP_0006462	Generalized bone demineralization	http://purl.obolibrary.org/obo/HP_0004349	Reduced bone mineral density		
http://purl.obolibrary.org/obo/HP_0003112	Abnormal circulating amino acid concentration	http://purl.obolibrary.org/obo/HP_0004354	Abnormal circulating carboxylic acid concentration		
http://purl.obolibrary.org/obo/HP_0010995	Abnormal circulating dicarboxylic acid concentration	http://purl.obolibrary.org/obo/HP_0004354	Abnormal circulating carboxylic acid concentration		
http://purl.obolibrary.org/obo/HP_0010996	Abnormal circulating monocarboxylic acid concentration	http://purl.obolibrary.org/obo/HP_0004354	Abnormal circulating carboxylic acid concentration		
http://purl.obolibrary.org/obo/HP_0010911	Hyperleucinemia	http://purl.obolibrary.org/obo/HP_0004357	Abnormal circulating leucine concentration		
http://purl.obolibrary.org/obo/HP_0500143	Hypoleucinemia	http://purl.obolibrary.org/obo/HP_0004357	Abnormal circulating leucine concentration		
http://purl.obolibrary.org/obo/HP_0010966	Abnormal circulating fatty-acid anion concentration	http://purl.obolibrary.org/obo/HP_0010996	Abnormal circulating monocarboxylic acid concentration		
http://purl.obolibrary.org/obo/HP_0001941	Acidosis	http://purl.obolibrary.org/obo/HP_0004360	Abnormality of acid-base homeostasis		
http://purl.obolibrary.org/obo/HP_0001948	Alkalosis	http://purl.obolibrary.org/obo/HP_0004360	Abnormality of acid-base homeostasis		
http://purl.obolibrary.org/obo/HP_0032369	Alkalemia	http://purl.obolibrary.org/obo/HP_0004360	Abnormality of acid-base homeostasis		
http://purl.obolibrary.org/obo/HP_0032368	Acidemia	http://purl.obolibrary.org/obo/HP_0004360	Abnormality of acid-base homeostasis		
http://purl.obolibrary.org/obo/HP_0002901	Hypocalcemia	http://purl.obolibrary.org/obo/HP_0004363	Abnormal circulating calcium concentration		
http://purl.obolibrary.org/obo/HP_0003072	Hypercalcemia	http://purl.obolibrary.org/obo/HP_0004363	Abnormal circulating calcium concentration		
http://purl.obolibrary.org/obo/HP_0002157	Azotemia	http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration		
http://purl.obolibrary.org/obo/HP_0010932	Abnormal circulating nucleobase concentration	http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration		
http://purl.obolibrary.org/obo/HP_0100493	Hypoammonemia	http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration		
http://purl.obolibrary.org/obo/HP_0010933	Hyperxanthinemia	http://purl.obolibrary.org/obo/HP_0004368	Increased circulating purine concentration		
http://purl.obolibrary.org/obo/HP_0001945	Fever	http://purl.obolibrary.org/obo/HP_0004370	Abnormality of temperature regulation		
http://purl.obolibrary.org/obo/HP_0002047	Malignant hyperthermia	http://purl.obolibrary.org/obo/HP_0004370	Abnormality of temperature regulation		
http://purl.obolibrary.org/obo/HP_0011020	Abnormality of mucopolysaccharide metabolism	http://purl.obolibrary.org/obo/HP_0004371	Abnormality of glycosaminoglycan metabolism		
http://purl.obolibrary.org/obo/HP_0001259	Coma	http://purl.obolibrary.org/obo/HP_0004372	Reduced consciousness		
http://purl.obolibrary.org/obo/HP_0002329	Drowsiness	http://purl.obolibrary.org/obo/HP_0004372	Reduced consciousness		
http://purl.obolibrary.org/obo/HP_0007185	Loss of consciousness	http://purl.obolibrary.org/obo/HP_0004372	Reduced consciousness		
http://purl.obolibrary.org/obo/HP_0001269	Hemiparesis	http://purl.obolibrary.org/obo/HP_0004374	Hemiplegia/hemiparesis		
http://purl.obolibrary.org/obo/HP_0005523	Lymphoproliferative disorder	http://purl.obolibrary.org/obo/HP_0004377	Hematological neoplasm		
http://purl.obolibrary.org/obo/HP_0012890	Posteriorly placed anus	http://purl.obolibrary.org/obo/HP_0004397	Ectopic anus		
http://purl.obolibrary.org/obo/HP_0002021	Pyloric stenosis	http://purl.obolibrary.org/obo/HP_0004400	Abnormality of the pylorus		
http://purl.obolibrary.org/obo/HP_0004399	Congenital pyloric atresia	http://purl.obolibrary.org/obo/HP_0004400	Abnormality of the pylorus		
http://purl.obolibrary.org/obo/HP_0002558	Supernumerary nipple	http://purl.obolibrary.org/obo/HP_0004404	Abnormal nipple morphology		
http://purl.obolibrary.org/obo/HP_0002562	Low-set nipples	http://purl.obolibrary.org/obo/HP_0004404	Abnormal nipple morphology		
http://purl.obolibrary.org/obo/HP_0006709	Aplasia/Hypoplasia of the nipples	http://purl.obolibrary.org/obo/HP_0004404	Abnormal nipple morphology		
http://purl.obolibrary.org/obo/HP_0000458	Anosmia	http://purl.obolibrary.org/obo/HP_0004408	Abnormality of the sense of smell		
http://purl.obolibrary.org/obo/HP_0004409	Hyposmia	http://purl.obolibrary.org/obo/HP_0004408	Abnormality of the sense of smell		
http://purl.obolibrary.org/obo/HP_0000293	Full cheeks	http://purl.obolibrary.org/obo/HP_0004426	Abnormal cheek morphology		
http://purl.obolibrary.org/obo/HP_0009938	Sunken cheeks	http://purl.obolibrary.org/obo/HP_0004426	Abnormal cheek morphology		
http://purl.obolibrary.org/obo/HP_0001927	Acanthocytosis	http://purl.obolibrary.org/obo/HP_0004447	Poikilocytosis		
http://purl.obolibrary.org/obo/HP_0004444	Spherocytosis	http://purl.obolibrary.org/obo/HP_0004447	Poikilocytosis		
http://purl.obolibrary.org/obo/HP_0004823	Anisopoikilocytosis	http://purl.obolibrary.org/obo/HP_0004447	Poikilocytosis		
http://purl.obolibrary.org/obo/HP_0003321	Biconcave flattened vertebrae	http://purl.obolibrary.org/obo/HP_0000926	Platyspondyly		
http://purl.obolibrary.org/obo/HP_0000081	Duplicated collecting system	http://purl.obolibrary.org/obo/HP_0004742	Abnormal renal collecting system morphology		
http://purl.obolibrary.org/obo/HP_0033578	Pre-capillary pulmonary hypertension	http://purl.obolibrary.org/obo/HP_0004890	Elevated pulmonary artery pressure		
http://purl.obolibrary.org/obo/HP_0002917	Hypomagnesemia	http://purl.obolibrary.org/obo/HP_0004921	Abnormal magnesium concentration		
http://purl.obolibrary.org/obo/HP_0002918	Hypermagnesemia	http://purl.obolibrary.org/obo/HP_0004921	Abnormal magnesium concentration		
http://purl.obolibrary.org/obo/HP_0003207	Arterial calcification	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		
http://purl.obolibrary.org/obo/HP_0005305	Cerebral venous thrombosis	http://purl.obolibrary.org/obo/HP_0004936	Venous thrombosis		
http://purl.obolibrary.org/obo/HP_0030247	Splanchnic vein thrombosis	http://purl.obolibrary.org/obo/HP_0004936	Venous thrombosis		
http://purl.obolibrary.org/obo/HP_0003090	Hypoplasia of the capital femoral epiphysis	http://purl.obolibrary.org/obo/HP_0005003	Aplasia/Hypoplasia of the capital femoral epiphysis		
http://purl.obolibrary.org/obo/HP_0008820	Absent ossification of capital femoral epiphysis	http://purl.obolibrary.org/obo/HP_0009107	Abnormal ossification involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0000415	Abnormal choanae morphology	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0000433	Abnormal nasal mucosa morphology	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0000445	Wide nose	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0000460	Narrow nose	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0003189	Long nose	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0003196	Short nose	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0005288	Abnormal nostril morphology	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0009924	Aplasia/Hypoplasia involving the nose	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0010938	Abnormal external nose morphology	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0004122	Midline defect of the nose	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0010640	Abnormal nasal cavity morphology	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0010937	Abnormal nasal skeleton morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0040057	Abnormal nasal hair morphology	http://purl.obolibrary.org/obo/HP_0005105	Abnormal nasal morphology		
http://purl.obolibrary.org/obo/HP_0008517	Aplasia/Hypoplasia of the sacrum	http://purl.obolibrary.org/obo/HP_0008518	Aplasia/Hypoplasia involving the vertebral column		
http://purl.obolibrary.org/obo/HP_0002945	Intervertebral space narrowing	http://purl.obolibrary.org/obo/HP_0005108	Abnormal intervertebral disk morphology		
http://purl.obolibrary.org/obo/HP_0005645	Intervertebral disk calcification	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0008419	Intervertebral disk degeneration	http://purl.obolibrary.org/obo/HP_0005108	Abnormal intervertebral disk morphology		
http://purl.obolibrary.org/obo/HP_0008441	Herniation of intervertebral nuclei	http://purl.obolibrary.org/obo/HP_0005108	Abnormal intervertebral disk morphology		
http://purl.obolibrary.org/obo/HP_0030320	Increased intervertebral space	http://purl.obolibrary.org/obo/HP_0005108	Abnormal intervertebral disk morphology		
http://purl.obolibrary.org/obo/HP_0001771	Achilles tendon contracture	http://purl.obolibrary.org/obo/HP_0008366	Foot joint contracture		
http://purl.obolibrary.org/obo/HP_0004690	Thickened Achilles tendon	http://purl.obolibrary.org/obo/HP_0032523	Tendon thickening		
http://purl.obolibrary.org/obo/HP_0001631	Atrial septal defect	http://purl.obolibrary.org/obo/HP_0011994	Abnormal atrial septum morphology		
http://purl.obolibrary.org/obo/HP_0001678	Atrioventricular block	http://purl.obolibrary.org/obo/HP_0012722	Heart block		
http://purl.obolibrary.org/obo/HP_0000774	Narrow chest	http://purl.obolibrary.org/obo/HP_0005257	Thoracic hypoplasia		
http://purl.obolibrary.org/obo/HP_0009930	Asymmetry of the nares	http://purl.obolibrary.org/obo/HP_0005288	Abnormal nostril morphology		
http://purl.obolibrary.org/obo/HP_0009931	Enlarged naris	http://purl.obolibrary.org/obo/HP_0005288	Abnormal nostril morphology		
http://purl.obolibrary.org/obo/HP_0009932	Single naris	http://purl.obolibrary.org/obo/HP_0005288	Abnormal nostril morphology		
http://purl.obolibrary.org/obo/HP_0009933	Narrow naris	http://purl.obolibrary.org/obo/HP_0005288	Abnormal nostril morphology		
http://purl.obolibrary.org/obo/HP_0009934	Supernumerary naris	http://purl.obolibrary.org/obo/HP_0005288	Abnormal nostril morphology		
http://purl.obolibrary.org/obo/HP_0100596	Absent nares	http://purl.obolibrary.org/obo/HP_0005288	Abnormal nostril morphology		
http://purl.obolibrary.org/obo/HP_0002619	Varicose veins	http://purl.obolibrary.org/obo/HP_0005293	Venous insufficiency		
http://purl.obolibrary.org/obo/HP_0005384	Defective B cell activation	http://purl.obolibrary.org/obo/HP_0005372	Abnormal B cell physiology		
http://purl.obolibrary.org/obo/HP_0010701	Abnormal circulating immunoglobulin concentration	http://purl.obolibrary.org/obo/HP_0005368	Abnormality of humoral immunity		
http://purl.obolibrary.org/obo/HP_0000999	Pyoderma	http://purl.obolibrary.org/obo/HP_0005406	Recurrent bacterial skin infections		
http://purl.obolibrary.org/obo/HP_0002689	Absent paranasal sinuses	http://purl.obolibrary.org/obo/HP_0005453	Absent/hypoplastic paranasal sinuses		
http://purl.obolibrary.org/obo/HP_0006784	Paranasal sinus hypoplasia	http://purl.obolibrary.org/obo/HP_0005453	Absent/hypoplastic paranasal sinuses		
http://purl.obolibrary.org/obo/HP_0001022	Albinism	http://purl.obolibrary.org/obo/HP_0007513	Generalized hypopigmentation		
http://purl.obolibrary.org/obo/HP_0002778	Abnormal tracheal morphology	http://purl.obolibrary.org/obo/HP_0005607	Abnormal tracheobronchial morphology		
http://purl.obolibrary.org/obo/HP_0012744	Femoral aplasia	http://purl.obolibrary.org/obo/HP_0005613	Aplasia/hypoplasia of the femur		
http://purl.obolibrary.org/obo/HP_0001883	Talipes	http://purl.obolibrary.org/obo/HP_0005656	Positional foot deformity		
http://purl.obolibrary.org/obo/HP_0006380	Knee flexion contracture	http://purl.obolibrary.org/obo/HP_0034671	Knee contracture		
http://purl.obolibrary.org/obo/HP_0001230	Broad metacarpals	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0001504	Metacarpal osteolysis	http://purl.obolibrary.org/obo/HP_0045039	Osteolysis involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0005917	Supernumerary metacarpal bones	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0005913	Abnormal metacarpal epiphysis morphology	http://purl.obolibrary.org/obo/HP_0005924	Abnormal hand epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0005914	Aplasia/Hypoplasia involving the metacarpal bones	http://purl.obolibrary.org/obo/HP_0005927	Aplasia/hypoplasia involving bones of the hand		
http://purl.obolibrary.org/obo/HP_0006048	Distal widening of metacarpals	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0006166	Tubular metacarpal bones	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0009701	Metacarpal synostosis	http://purl.obolibrary.org/obo/HP_0004278	Synostosis involving bones of the hand		
http://purl.obolibrary.org/obo/HP_0010009	Abnormal 1st metacarpal morphology	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010010	Abnormal 2nd metacarpal morphology	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010011	Abnormal 3rd metacarpal morphology	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010012	Abnormal 4th metacarpal morphology	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010013	Abnormal 5th metacarpal morphology	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010493	Long metacarpals	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0011911	Abnormal metacarpophalangeal joint morphology	http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0001176	Large hands	http://purl.obolibrary.org/obo/HP_0005922	Abnormal hand morphology		
http://purl.obolibrary.org/obo/HP_0001191	Abnormal carpal morphology	http://purl.obolibrary.org/obo/HP_0025798	Abnormal wrist morphology		
http://purl.obolibrary.org/obo/HP_0005916	Abnormal metacarpal morphology	http://purl.obolibrary.org/obo/HP_0040070	Abnormal upper limb bone morphology		
http://purl.obolibrary.org/obo/HP_0004275	Duplication of hand bones	http://purl.obolibrary.org/obo/HP_0009142	Duplication of bones involving the upper extremities		
http://purl.obolibrary.org/obo/HP_0004278	Synostosis involving bones of the hand	http://purl.obolibrary.org/obo/HP_0100238	Synostosis involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0005923	Abnormal hand metaphysis morphology	http://purl.obolibrary.org/obo/HP_0009809	Abnormal upper limb metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0005925	Abnormal hand diaphysis morphology	http://purl.obolibrary.org/obo/HP_0009808	Anomaly of the upper limb diaphyses		
http://purl.obolibrary.org/obo/HP_0005927	Aplasia/hypoplasia involving bones of the hand	http://purl.obolibrary.org/obo/HP_0006496	Aplasia/hypoplasia involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0009699	Osteolytic defects of the hand bones	http://purl.obolibrary.org/obo/HP_0045039	Osteolysis involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0002663	Delayed epiphyseal ossification	http://purl.obolibrary.org/obo/HP_0010656	Abnormal epiphyseal ossification		
http://purl.obolibrary.org/obo/HP_0003071	Flattened epiphysis	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010580	Enlarged epiphyses	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010585	Small epiphyses	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010655	Epiphyseal stippling	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0010577	Absent epiphyses	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010584	Pseudoepiphyses	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010587	Triangular epiphysis	http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0000071	Ureteral stenosis	http://purl.obolibrary.org/obo/HP_0006000	Ureteral obstruction		
http://purl.obolibrary.org/obo/HP_0030735	Ureterovesical junction obstruction	http://purl.obolibrary.org/obo/HP_0006000	Ureteral obstruction		
http://purl.obolibrary.org/obo/HP_0010492	Osseous finger syndactyly	http://purl.obolibrary.org/obo/HP_0006101	Finger syndactyly		
http://purl.obolibrary.org/obo/HP_0010554	Cutaneous finger syndactyly	http://purl.obolibrary.org/obo/HP_0012725	Cutaneous syndactyly		
http://purl.obolibrary.org/obo/HP_0001216	Delayed ossification of carpal bones	http://purl.obolibrary.org/obo/HP_0006257	Abnormality of carpal bone ossification		
http://purl.obolibrary.org/obo/HP_0004233	Advanced ossification of carpal bones	http://purl.obolibrary.org/obo/HP_0006257	Abnormality of carpal bone ossification		
http://purl.obolibrary.org/obo/HP_0006067	Multiple carpal ossification centers	http://purl.obolibrary.org/obo/HP_0006257	Abnormality of carpal bone ossification		
http://purl.obolibrary.org/obo/HP_0006176	Two carpal ossification centers present at birth	http://purl.obolibrary.org/obo/HP_0006257	Abnormality of carpal bone ossification		
http://purl.obolibrary.org/obo/HP_0009164	Abnormal calcification of the carpal bones	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0000187	Broad alveolar ridges	http://purl.obolibrary.org/obo/HP_0006477	Abnormal alveolar ridge morphology		
http://purl.obolibrary.org/obo/HP_0006308	Atrophy of alveolar ridges	http://purl.obolibrary.org/obo/HP_0006477	Abnormal alveolar ridge morphology		
http://purl.obolibrary.org/obo/HP_0009085	Alveolar ridge overgrowth	http://purl.obolibrary.org/obo/HP_0006477	Abnormal alveolar ridge morphology		
http://purl.obolibrary.org/obo/HP_0009092	Progressive alveolar ridge hypertrophy	http://purl.obolibrary.org/obo/HP_0006477	Abnormal alveolar ridge morphology		
http://purl.obolibrary.org/obo/HP_0009094	Cleft lower alveolar ridge	http://purl.obolibrary.org/obo/HP_0006477	Abnormal alveolar ridge morphology		
http://purl.obolibrary.org/obo/HP_0003771	Pulp calcification	http://purl.obolibrary.org/obo/HP_0006479	Abnormal dental pulp morphology		
http://purl.obolibrary.org/obo/HP_0000691	Microdontia	http://purl.obolibrary.org/obo/HP_0006482	Abnormal dental morphology		
http://purl.obolibrary.org/obo/HP_0001572	Macrodontia	http://purl.obolibrary.org/obo/HP_0006482	Abnormal dental morphology		
http://purl.obolibrary.org/obo/HP_0003865	Bowed humerus	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003956	Bowed forearm bones	http://purl.obolibrary.org/obo/HP_0040072	Abnormal forearm bone morphology		
http://purl.obolibrary.org/obo/HP_0006417	Wide femoral metaphysis	http://purl.obolibrary.org/obo/HP_0006489	Abnormal femoral metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0006431	Abnormal proximal femoral metaphysis morphology	http://purl.obolibrary.org/obo/HP_0006489	Abnormal femoral metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0002990	Fibular aplasia	http://purl.obolibrary.org/obo/HP_0006492	Aplasia/Hypoplasia of the fibula		
http://purl.obolibrary.org/obo/HP_0001773	Short foot	http://purl.obolibrary.org/obo/HP_0006494	Aplasia/Hypoplasia involving bones of the feet		
http://purl.obolibrary.org/obo/HP_0009820	Lower limb peromelia	http://purl.obolibrary.org/obo/HP_0009828	Peromelia		
http://purl.obolibrary.org/obo/HP_0010173	Aplasia/Hypoplasia of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0011301	Absent foot	http://purl.obolibrary.org/obo/HP_6000946	Transverse terminal lower limb defect		
http://purl.obolibrary.org/obo/HP_0003022	Hypoplasia of the ulna	http://purl.obolibrary.org/obo/HP_0009821	Forearm undergrowth		
http://purl.obolibrary.org/obo/HP_0003065	Patellar hypoplasia	http://purl.obolibrary.org/obo/HP_0006498	Aplasia/Hypoplasia of the patella		
http://purl.obolibrary.org/obo/HP_0006443	Patellar aplasia	http://purl.obolibrary.org/obo/HP_0006498	Aplasia/Hypoplasia of the patella		
http://purl.obolibrary.org/obo/HP_0002984	Hypoplasia of the radius	http://purl.obolibrary.org/obo/HP_0009821	Forearm undergrowth		
http://purl.obolibrary.org/obo/HP_0001498	Carpal bone hypoplasia	http://purl.obolibrary.org/obo/HP_0006502	Aplasia/Hypoplasia involving the carpal bones		
http://purl.obolibrary.org/obo/HP_0004231	Carpal bone aplasia	http://purl.obolibrary.org/obo/HP_0006502	Aplasia/Hypoplasia involving the carpal bones		
http://purl.obolibrary.org/obo/HP_0002089	Pulmonary hypoplasia	http://purl.obolibrary.org/obo/HP_0006703	Aplasia/Hypoplasia of the lungs		
http://purl.obolibrary.org/obo/HP_0001633	Abnormal mitral valve morphology	http://purl.obolibrary.org/obo/HP_0006705	Abnormal atrioventricular valve morphology		
http://purl.obolibrary.org/obo/HP_0001702	Abnormal tricuspid valve morphology	http://purl.obolibrary.org/obo/HP_0006705	Abnormal atrioventricular valve morphology		
http://purl.obolibrary.org/obo/HP_0001409	Portal hypertension	http://purl.obolibrary.org/obo/HP_0032263	Increased blood pressure		
http://purl.obolibrary.org/obo/HP_0031941	Abnormal portal venous system morphology	http://purl.obolibrary.org/obo/HP_0006707	Abnormality of the hepatic vasculature		
http://purl.obolibrary.org/obo/HP_0002557	Hypoplastic nipples	http://purl.obolibrary.org/obo/HP_0006709	Aplasia/Hypoplasia of the nipples		
http://purl.obolibrary.org/obo/HP_0000894	Short clavicles	http://purl.obolibrary.org/obo/HP_0006710	Aplasia/Hypoplasia of the clavicles		
http://purl.obolibrary.org/obo/HP_0006660	Aplastic clavicle	http://purl.obolibrary.org/obo/HP_0006710	Aplasia/Hypoplasia of the clavicles		
http://purl.obolibrary.org/obo/HP_0000773	Short ribs	http://purl.obolibrary.org/obo/HP_0006712	Aplasia/Hypoplasia of the ribs		
http://purl.obolibrary.org/obo/HP_0000921	Missing ribs	http://purl.obolibrary.org/obo/HP_0006712	Aplasia/Hypoplasia of the ribs		
http://purl.obolibrary.org/obo/HP_0000882	Hypoplastic scapulae	http://purl.obolibrary.org/obo/HP_0006713	Aplasia/Hypoplasia of the scapulae		
http://purl.obolibrary.org/obo/HP_0010317	Scapular aplasia	http://purl.obolibrary.org/obo/HP_0006713	Aplasia/Hypoplasia of the scapulae		
http://purl.obolibrary.org/obo/HP_0000879	Short sternum	http://purl.obolibrary.org/obo/HP_0006714	Aplasia/Hypoplasia of the sternum		
http://purl.obolibrary.org/obo/HP_0006628	Absent sternal ossification	http://purl.obolibrary.org/obo/HP_0011863	Abnormal sternal ossification		
http://purl.obolibrary.org/obo/HP_0010308	Asternia	http://purl.obolibrary.org/obo/HP_0006714	Aplasia/Hypoplasia of the sternum		
http://purl.obolibrary.org/obo/HP_0002398	Degeneration of anterior horn cells	http://purl.obolibrary.org/obo/HP_0007373	Motor neuron atrophy		
http://purl.obolibrary.org/obo/HP_0002335	Agenesis of cerebellar vermis	http://purl.obolibrary.org/obo/HP_0006817	Aplasia/Hypoplasia of the cerebellar vermis		
http://purl.obolibrary.org/obo/HP_0006897	Abducens palsy	http://purl.obolibrary.org/obo/HP_0006824	Cranial nerve paralysis		
http://purl.obolibrary.org/obo/HP_0007011	Fourth cranial nerve palsy	http://purl.obolibrary.org/obo/HP_0006824	Cranial nerve paralysis		
http://purl.obolibrary.org/obo/HP_0001321	Cerebellar hypoplasia	http://purl.obolibrary.org/obo/HP_0007360	Aplasia/Hypoplasia of the cerebellum		
http://purl.obolibrary.org/obo/HP_0002365	Hypoplasia of the brainstem	http://purl.obolibrary.org/obo/HP_0007362	Aplasia/Hypoplasia of the brainstem		
http://purl.obolibrary.org/obo/HP_0006872	Cerebral hypoplasia	http://purl.obolibrary.org/obo/HP_0007364	Aplasia/Hypoplasia of the cerebrum		
http://purl.obolibrary.org/obo/HP_0007370	Aplasia/Hypoplasia of the corpus callosum	http://purl.obolibrary.org/obo/HP_0033725	Thin corpus callosum		
http://purl.obolibrary.org/obo/HP_0000252	Microcephaly	http://purl.obolibrary.org/obo/HP_0040195	Decreased head circumference		
http://purl.obolibrary.org/obo/HP_0002180	Neurodegeneration	http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system		
http://purl.obolibrary.org/obo/HP_0002529	Neuronal loss in central nervous system	http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system		
http://purl.obolibrary.org/obo/HP_0012444	Brain atrophy	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0007009	Central nervous system degeneration	http://purl.obolibrary.org/obo/HP_0007367	Atrophy/Degeneration affecting the central nervous system		
http://purl.obolibrary.org/obo/HP_0002059	Cerebral atrophy	http://purl.obolibrary.org/obo/HP_0007369	Atrophy/Degeneration affecting the cerebrum		
http://purl.obolibrary.org/obo/HP_0007313	Cerebral degeneration	http://purl.obolibrary.org/obo/HP_0007369	Atrophy/Degeneration affecting the cerebrum		
http://purl.obolibrary.org/obo/HP_0001274	Agenesis of corpus callosum	http://purl.obolibrary.org/obo/HP_0007370	Aplasia/Hypoplasia of the corpus callosum		
http://purl.obolibrary.org/obo/HP_0002079	Hypoplasia of the corpus callosum	http://purl.obolibrary.org/obo/HP_0007370	Aplasia/Hypoplasia of the corpus callosum		
http://purl.obolibrary.org/obo/HP_0007354	Amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/HP_0007373	Motor neuron atrophy		
http://purl.obolibrary.org/obo/HP_0001331	Absent septum pellucidum	http://purl.obolibrary.org/obo/HP_0007375	Abnormal septum pellucidum morphology		
http://purl.obolibrary.org/obo/HP_0006960	Choroid plexus calcification	http://purl.obolibrary.org/obo/HP_0430048	Intracranial calcification		
http://purl.obolibrary.org/obo/HP_0007521	Irregular hyperpigmentation of back	http://purl.obolibrary.org/obo/HP_0007400	Irregular hyperpigmentation		
http://purl.obolibrary.org/obo/HP_0100816	Lip hyperpigmentation	http://purl.obolibrary.org/obo/HP_0032453	Abnormal lip pigmentation		
http://purl.obolibrary.org/obo/HP_0000972	Palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/HP_0010765	Palmar hyperkeratosis		
http://purl.obolibrary.org/obo/HP_0007990	Hypoplastic iris stroma	http://purl.obolibrary.org/obo/HP_0007676	Hypoplasia of the iris		
http://purl.obolibrary.org/obo/HP_0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	http://purl.obolibrary.org/obo/HP_0008056	Aplasia/Hypoplasia affecting the eye		
http://purl.obolibrary.org/obo/HP_0000559	Corneal scarring	http://purl.obolibrary.org/obo/HP_0100699	Scarring		
http://purl.obolibrary.org/obo/HP_0007759	Opacification of the corneal stroma	http://purl.obolibrary.org/obo/HP_0011492	Abnormal corneal stroma morphology		
http://purl.obolibrary.org/obo/HP_0007730	Iris hypopigmentation	http://purl.obolibrary.org/obo/HP_0008034	Abnormal iris pigmentation		
http://purl.obolibrary.org/obo/HP_0200064	Asymmetry of iris pigmentation	http://purl.obolibrary.org/obo/HP_0008034	Abnormal iris pigmentation		
http://purl.obolibrary.org/obo/HP_0001491	Congenital fibrosis of extraocular muscles	http://purl.obolibrary.org/obo/HP_0008049	Abnormality of the extraocular muscles		
http://purl.obolibrary.org/obo/HP_0007886	Absent extraocular muscles	http://purl.obolibrary.org/obo/HP_0008049	Abnormality of the extraocular muscles		
http://purl.obolibrary.org/obo/HP_0012242	Superior rectus atrophy	http://purl.obolibrary.org/obo/HP_0008049	Abnormality of the extraocular muscles		
http://purl.obolibrary.org/obo/HP_0007676	Hypoplasia of the iris	http://purl.obolibrary.org/obo/HP_0008053	Aplasia/Hypoplasia of the iris		
http://purl.obolibrary.org/obo/HP_0000526	Aniridia	http://purl.obolibrary.org/obo/HP_0008053	Aplasia/Hypoplasia of the iris		
http://purl.obolibrary.org/obo/HP_0000528	Anophthalmia	http://purl.obolibrary.org/obo/HP_0100887	Abnormality of globe size		
http://purl.obolibrary.org/obo/HP_0000568	Microphthalmia	http://purl.obolibrary.org/obo/HP_0100887	Abnormality of globe size		
http://purl.obolibrary.org/obo/HP_0007766	Optic disc hypoplasia	http://purl.obolibrary.org/obo/HP_0008058	Aplasia/Hypoplasia of the optic nerve		
http://purl.obolibrary.org/obo/HP_0001104	Macular hypoplasia	http://purl.obolibrary.org/obo/HP_0008059	Aplasia/Hypoplasia of the macula		
http://purl.obolibrary.org/obo/HP_0000963	Thin skin	http://purl.obolibrary.org/obo/HP_0008065	Aplasia/Hypoplasia of the skin		
http://purl.obolibrary.org/obo/HP_0004334	Dermal atrophy	http://purl.obolibrary.org/obo/HP_0008065	Aplasia/Hypoplasia of the skin		
http://purl.obolibrary.org/obo/HP_0007515	Hypoplastic pilosebaceous units	http://purl.obolibrary.org/obo/HP_0008065	Aplasia/Hypoplasia of the skin		
http://purl.obolibrary.org/obo/HP_0000974	Hyperextensible skin	http://purl.obolibrary.org/obo/HP_0008067	Abnormally lax or hyperextensible skin		
http://purl.obolibrary.org/obo/HP_0012069	Keratan sulfate excretion in urine	http://purl.obolibrary.org/obo/HP_0008155	Mucopolysacchariduria		
http://purl.obolibrary.org/obo/HP_0012070	Chondroitin sulfate excretion in urine	http://purl.obolibrary.org/obo/HP_0008155	Mucopolysacchariduria		
http://purl.obolibrary.org/obo/HP_0001848	Calcaneovalgus deformity	http://purl.obolibrary.org/obo/HP_0008119	Deformed tarsal bones		
http://purl.obolibrary.org/obo/HP_0008142	Delayed calcaneal ossification	http://purl.obolibrary.org/obo/HP_0008103	Delayed tarsal ossification		
http://purl.obolibrary.org/obo/HP_0012789	Hypoplasia of the calcaneus	http://purl.obolibrary.org/obo/HP_0008363	Aplasia/Hypoplasia of the tarsal bones		
http://purl.obolibrary.org/obo/HP_0034677	Ankle contracture	http://purl.obolibrary.org/obo/HP_0034673	Abnormal ankle morphology		
http://purl.obolibrary.org/obo/HP_0000823	Delayed puberty	http://purl.obolibrary.org/obo/HP_0001510	Growth delay		
http://purl.obolibrary.org/obo/HP_0100000	Early onset of sexual maturation	http://purl.obolibrary.org/obo/HP_0008373	Puberty and gonadal disorders		
http://purl.obolibrary.org/obo/HP_0008197	Absence of pubertal development	http://purl.obolibrary.org/obo/HP_0008373	Puberty and gonadal disorders		
http://purl.obolibrary.org/obo/HP_0001792	Small nail	http://purl.obolibrary.org/obo/HP_0008386	Aplasia/Hypoplasia of the nails		
http://purl.obolibrary.org/obo/HP_0001798	Anonychia	http://purl.obolibrary.org/obo/HP_0008386	Aplasia/Hypoplasia of the nails		
http://purl.obolibrary.org/obo/HP_0001799	Short nail	http://purl.obolibrary.org/obo/HP_0008386	Aplasia/Hypoplasia of the nails		
http://purl.obolibrary.org/obo/HP_0010624	Aplastic/hypoplastic toenail	http://purl.obolibrary.org/obo/HP_0008388	Abnormal toenail morphology		
http://purl.obolibrary.org/obo/HP_0001810	Dystrophic toenail	http://purl.obolibrary.org/obo/HP_0008404	Nail dystrophy		
http://purl.obolibrary.org/obo/HP_0100797	Toenail dysplasia	http://purl.obolibrary.org/obo/HP_0002164	Nail dysplasia		
http://purl.obolibrary.org/obo/HP_0004629	Small cervical vertebral bodies	http://purl.obolibrary.org/obo/HP_0008479	Hypoplastic vertebral bodies		
http://purl.obolibrary.org/obo/HP_0002766	Relatively short spine	http://purl.obolibrary.org/obo/HP_0008518	Aplasia/Hypoplasia involving the vertebral column		
http://purl.obolibrary.org/obo/HP_0008460	Hypoplastic spinal processes	http://purl.obolibrary.org/obo/HP_0008518	Aplasia/Hypoplasia involving the vertebral column		
http://purl.obolibrary.org/obo/HP_0011041	Aplasia/Hypoplasia of the cervical spine	http://purl.obolibrary.org/obo/HP_0046508	Abnormal cervical spine morphology		
http://purl.obolibrary.org/obo/HP_0002831	Long coccyx	http://purl.obolibrary.org/obo/HP_0008519	Abnormal coccyx morphology		
http://purl.obolibrary.org/obo/HP_0000027	Azoospermia	http://purl.obolibrary.org/obo/HP_0008669	Abnormal spermatogenesis		
http://purl.obolibrary.org/obo/HP_0000089	Renal hypoplasia	http://purl.obolibrary.org/obo/HP_0008678	Renal hypoplasia/aplasia		
http://purl.obolibrary.org/obo/HP_0000104	Renal agenesis	http://purl.obolibrary.org/obo/HP_0008678	Renal hypoplasia/aplasia		
http://purl.obolibrary.org/obo/HP_0000013	Hypoplasia of the uterus	http://purl.obolibrary.org/obo/HP_0008684	Aplasia/hypoplasia of the uterus		
http://purl.obolibrary.org/obo/HP_0000054	Micropenis	http://purl.obolibrary.org/obo/HP_0008736	Hypoplasia of penis		
http://purl.obolibrary.org/obo/HP_0000024	Prostatitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0008687	Hypoplasia of the prostate	http://purl.obolibrary.org/obo/HP_0008775	Abnormal prostate morphology		
http://purl.obolibrary.org/obo/HP_0008711	Benign prostatic hyperplasia	http://purl.obolibrary.org/obo/HP_0008775	Abnormal prostate morphology		
http://purl.obolibrary.org/obo/HP_0001920	Renal artery stenosis	http://purl.obolibrary.org/obo/HP_0100545	Arterial stenosis		
http://purl.obolibrary.org/obo/HP_0008756	Bowing of the vocal cords	http://purl.obolibrary.org/obo/HP_0008777	Abnormal vocal cord morphology		
http://purl.obolibrary.org/obo/HP_0003635	Loss of subcutaneous adipose tissue in limbs	http://purl.obolibrary.org/obo/HP_0008887	Adipose tissue loss		
http://purl.obolibrary.org/obo/HP_0007485	Absence of subcutaneous fat	http://purl.obolibrary.org/obo/HP_0008887	Adipose tissue loss		
http://purl.obolibrary.org/obo/HP_0009002	Loss of truncal subcutaneous adipose tissue	http://purl.obolibrary.org/obo/HP_0008887	Adipose tissue loss		
http://purl.obolibrary.org/obo/HP_0004991	Rhizomelic arm shortening	http://purl.obolibrary.org/obo/HP_0008905	Rhizomelia		
http://purl.obolibrary.org/obo/HP_0003733	Thigh hypertrophy	http://purl.obolibrary.org/obo/HP_0008968	Muscle hypertrophy of the lower extremities		
http://purl.obolibrary.org/obo/HP_0003665	Amyotrophy of the musculature of the pelvis	http://purl.obolibrary.org/obo/HP_0008988	Pelvic girdle muscle atrophy		
http://purl.obolibrary.org/obo/HP_0003173	Hypoplastic pubic bone	http://purl.obolibrary.org/obo/HP_0009104	Aplasia/Hypoplasia of the pubic bone		
http://purl.obolibrary.org/obo/HP_0000347	Micrognathia	http://purl.obolibrary.org/obo/HP_0009118	Aplasia/Hypoplasia of the mandible		
http://purl.obolibrary.org/obo/HP_0009939	Mandibular aplasia	http://purl.obolibrary.org/obo/HP_0009118	Aplasia/Hypoplasia of the mandible		
http://purl.obolibrary.org/obo/HP_0002688	Absent frontal sinuses	http://purl.obolibrary.org/obo/HP_0009119	Aplasia/Hypoplasia of the frontal sinuses		
http://purl.obolibrary.org/obo/HP_0002738	Hypoplastic frontal sinuses	http://purl.obolibrary.org/obo/HP_0009119	Aplasia/Hypoplasia of the frontal sinuses		
http://purl.obolibrary.org/obo/HP_0000765	Abnormal thorax morphology	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0000925	Abnormality of the vertebral column	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0009144	Supernumerary bones of the axial skeleton	http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	http://purl.obolibrary.org/obo/HP_0009115	Aplasia/hypoplasia involving the skeleton		
http://purl.obolibrary.org/obo/HP_0000291	Abnormality of facial adipose tissue	http://purl.obolibrary.org/obo/HP_0011799	Abnormality of facial soft tissue		
http://purl.obolibrary.org/obo/HP_0001001	Abnormality of subcutaneous fat tissue	http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin		
http://purl.obolibrary.org/obo/HP_0009125	Lipodystrophy	http://purl.obolibrary.org/obo/HP_0009124	Abnormal adipose tissue morphology		
http://purl.obolibrary.org/obo/HP_0009126	Increased adipose tissue	http://purl.obolibrary.org/obo/HP_0009025	Increased connective tissue		
http://purl.obolibrary.org/obo/HP_0012490	Panniculitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0040063	Decreased adipose tissue	http://purl.obolibrary.org/obo/HP_0009124	Abnormal adipose tissue morphology		
http://purl.obolibrary.org/obo/HP_0002509	Limb hypertonia	http://purl.obolibrary.org/obo/HP_0001276	Hypertonia		
http://purl.obolibrary.org/obo/HP_0003325	Limb-girdle muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0003690	Limb muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0003797	Limb-girdle muscle atrophy	http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy		
http://purl.obolibrary.org/obo/HP_0009028	Generalized weakness of limb muscles	http://purl.obolibrary.org/obo/HP_0009127	Abnormality of the musculature of the limbs		
http://purl.obolibrary.org/obo/HP_0010177	Osteolytic defects of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0001853	Bifid distal phalanx of toe	http://purl.obolibrary.org/obo/HP_0009136	Duplication involving bones of the feet		
http://purl.obolibrary.org/obo/HP_0002946	Supernumerary vertebrae	http://purl.obolibrary.org/obo/HP_0030304	Abnormal number of vertebrae		
http://purl.obolibrary.org/obo/HP_0012518	Abnormal circle of Willis morphology	http://purl.obolibrary.org/obo/HP_0009145	Abnormal cerebral artery morphology		
http://purl.obolibrary.org/obo/HP_0003696	Absent epiphysis of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010246	Absent epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009147	Enlarged epiphysis of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010249	Enlarged epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009148	Small epiphysis of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010254	Small epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009149	Triangular epiphysis of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010256	Triangular epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009165	Stippling of the epiphysis of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010255	Stippling of the epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009188	Pseudoepiphysis of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010253	Pseudoepiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009238	Aplasia of the 5th finger	http://purl.obolibrary.org/obo/HP_0006262	Aplasia/Hypoplasia of the 5th finger		
http://purl.obolibrary.org/obo/HP_0009281	Aplasia of the 4th finger	http://purl.obolibrary.org/obo/HP_0009272	Aplasia/Hypoplasia of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009460	Aplasia of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009318	Aplasia/Hypoplasia of the 3rd finger		
http://purl.obolibrary.org/obo/HP_0009535	Aplasia of the 2nd finger	http://purl.obolibrary.org/obo/HP_0006264	Aplasia/Hypoplasia of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009777	Absent thumb	http://purl.obolibrary.org/obo/HP_0009601	Aplasia/Hypoplasia of the thumb		
http://purl.obolibrary.org/obo/HP_0009881	Aplasia of distal finger phalanx	http://purl.obolibrary.org/obo/HP_0009835	Aplasia/Hypoplasia of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010239	Aplasia of the middle phalanx of the hand	http://purl.obolibrary.org/obo/HP_0009843	Aplasia/Hypoplasia of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010242	Aplasia of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009160	Absent epiphysis of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010268	Absent epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009203	Absent epiphysis of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010257	Absent epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009612	Duplication of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009942	Duplication of thumb phalanx		
http://purl.obolibrary.org/obo/HP_0009638	Short proximal phalanx of thumb	http://purl.obolibrary.org/obo/HP_0009660	Short phalanx of the thumb		
http://purl.obolibrary.org/obo/HP_0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009617	Abnormality of the distal phalanx of the thumb		
http://purl.obolibrary.org/obo/HP_0009642	Broad distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009836	Broad distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009644	Curved distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009838	Curved distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009645	Osteolytic defect of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009839	Osteolytic defects of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009662	Abnormality of the epiphysis of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0001204	Distal finger symphalangism	http://purl.obolibrary.org/obo/HP_0100263	Distal symphalangism		
http://purl.obolibrary.org/obo/HP_0004197	Fourth finger symphalangism	http://purl.obolibrary.org/obo/HP_0009172	Abnormal 4th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0004218	Fifth finger symphalangism	http://purl.obolibrary.org/obo/HP_0004213	Abnormal 5th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0006152	Proximal finger symphalangism	http://purl.obolibrary.org/obo/HP_0100264	Proximal symphalangism		
http://purl.obolibrary.org/obo/HP_0009445	Third finger symphalangism	http://purl.obolibrary.org/obo/HP_0009316	Abnormal 3rd finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0000031	Epididymitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0000674	Anodontia	http://purl.obolibrary.org/obo/HP_0009804	Tooth agenesis		
http://purl.obolibrary.org/obo/HP_0000668	Hypodontia	http://purl.obolibrary.org/obo/HP_0009804	Tooth agenesis		
http://purl.obolibrary.org/obo/HP_0003861	Broad diaphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0009808	Anomaly of the upper limb diaphyses		
http://purl.obolibrary.org/obo/HP_0003926	Abnormal humeral diaphysis morphology	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003907	Abnormal humeral metaphysis morphology	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003019	Abnormality of the wrist	http://purl.obolibrary.org/obo/HP_0009810	Abnormality of upper limb joint		
http://purl.obolibrary.org/obo/HP_0009811	Abnormality of the elbow	http://purl.obolibrary.org/obo/HP_0009810	Abnormality of upper limb joint		
http://purl.obolibrary.org/obo/HP_0100238	Synostosis involving bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0100240	Synostosis of joints		
http://purl.obolibrary.org/obo/HP_0005773	Short forearm	http://purl.obolibrary.org/obo/HP_0009821	Forearm undergrowth		
http://purl.obolibrary.org/obo/HP_0008905	Rhizomelia	http://purl.obolibrary.org/obo/HP_0008873	Disproportionate short-limb short stature		
http://purl.obolibrary.org/obo/HP_0002983	Micromelia	http://purl.obolibrary.org/obo/HP_0009826	Limb undergrowth		
http://purl.obolibrary.org/obo/HP_0003027	Mesomelia	http://purl.obolibrary.org/obo/HP_0009826	Limb undergrowth		
http://purl.obolibrary.org/obo/HP_0006402	Distal shortening of limbs	http://purl.obolibrary.org/obo/HP_0009826	Limb undergrowth		
http://purl.obolibrary.org/obo/HP_0009816	Lower limb undergrowth	http://purl.obolibrary.org/obo/HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0009824	Upper limb undergrowth	http://purl.obolibrary.org/obo/HP_0006496	Aplasia/hypoplasia involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0100556	Hemiatrophy	http://purl.obolibrary.org/obo/HP_0100555	Asymmetric growth		
http://purl.obolibrary.org/obo/HP_0009812	Amelia involving the upper limbs	http://purl.obolibrary.org/obo/HP_6000918	Transverse terminal upper limb defect		
http://purl.obolibrary.org/obo/HP_0009818	Amelia involving the lower limbs	http://purl.obolibrary.org/obo/HP_0006493	Aplasia/hypoplasia involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0000763	Sensory neuropathy	http://purl.obolibrary.org/obo/HP_0009830	Peripheral neuropathy		
http://purl.obolibrary.org/obo/HP_0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009836	Broad distal phalanx of finger	http://purl.obolibrary.org/obo/HP_0009768	Broad phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009838	Curved distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009770	Curved phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009839	Osteolytic defects of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009771	Osteolytic defects of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009875	Triangular shaped distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009774	Triangular shaped phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009883	Duplication of the distal phalanx of hand	http://purl.obolibrary.org/obo/HP_0009997	Duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0012299	Long distal phalanx of finger	http://purl.obolibrary.org/obo/HP_0009832	Abnormal distal phalanx morphology of finger		
http://purl.obolibrary.org/obo/HP_0005599	Hypopigmentation of hair	http://purl.obolibrary.org/obo/HP_0009887	Abnormality of hair pigmentation		
http://purl.obolibrary.org/obo/HP_0001161	Hand polydactyly	http://purl.obolibrary.org/obo/HP_0010442	Polydactyly		
http://purl.obolibrary.org/obo/HP_0009942	Duplication of thumb phalanx	http://purl.obolibrary.org/obo/HP_0009602	Abnormality of thumb phalanx		
http://purl.obolibrary.org/obo/HP_0009985	Duplication of phalanx of 5th finger	http://purl.obolibrary.org/obo/HP_0004213	Abnormal 5th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009998	Complete duplication of phalanx of hand	http://purl.obolibrary.org/obo/HP_0009997	Duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009999	Partial duplication of the phalanx of hand	http://purl.obolibrary.org/obo/HP_0009997	Duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0010006	Duplication of the proximal phalanx of hand	http://purl.obolibrary.org/obo/HP_0009997	Duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0010008	Duplication of the middle phalanx of hand	http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0001842	Foot acroosteolysis	http://purl.obolibrary.org/obo/HP_0010177	Osteolytic defects of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010189	Osteolytic defects of the distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010062	Osteolytic defects of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010057	Abnormal hallux phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010198	Osteolytic defects of the middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010207	Osteolytic defect of the proximal toe phalanx	http://purl.obolibrary.org/obo/HP_0010184	Abnormality of toe proximal phalanx		
http://purl.obolibrary.org/obo/HP_0010351	Osteolytic defects of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010363	Osteolytic defects of the phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010375	Osteolytic defects of the phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		
http://purl.obolibrary.org/obo/HP_0010387	Osteolytic defects of the phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010091	Hallux symphalangism	http://purl.obolibrary.org/obo/HP_0010179	Toe symphalangism		
http://purl.obolibrary.org/obo/HP_0010353	Second toe symphalangism	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0001857	Short distal phalanx of toe	http://purl.obolibrary.org/obo/HP_0005035	Shortening of all phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010058	Aplasia/Hypoplasia of the phalanges of the hallux		
http://purl.obolibrary.org/obo/HP_0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010356	Abnormality of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010645	Aplasia of the distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010368	Abnormality of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100370	Aplasia/Hypoplasia of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010380	Abnormality of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010392	Abnormality of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010080	Osteolytic defects of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010062	Osteolytic defects of the phalanges of the hallux		
http://purl.obolibrary.org/obo/HP_0009250	Absent epiphysis of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009393	Absent epiphyses of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009335	Absent epiphysis of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009410	Absent epiphyses of the 3rd finger		
http://purl.obolibrary.org/obo/HP_0009502	Absent epiphysis of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009499	Abnormality of the epiphysis of the distal phalanx of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009675	Absent epiphysis of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009686	Absent epiphyses of the thumb		
http://purl.obolibrary.org/obo/HP_0000197	Abnormal parotid gland morphology	http://purl.obolibrary.org/obo/HP_0010286	Abnormal salivary gland morphology		
http://purl.obolibrary.org/obo/HP_0010287	Abnormality of the submandibular glands	http://purl.obolibrary.org/obo/HP_0010286	Abnormal salivary gland morphology		
http://purl.obolibrary.org/obo/HP_0010288	Abnormality of the sublingual glands	http://purl.obolibrary.org/obo/HP_0010286	Abnormal salivary gland morphology		
http://purl.obolibrary.org/obo/HP_0000171	Microglossia	http://purl.obolibrary.org/obo/HP_0010295	Aplasia/Hypoplasia of the tongue		
http://purl.obolibrary.org/obo/HP_0012730	Aglossia	http://purl.obolibrary.org/obo/HP_0010295	Aplasia/Hypoplasia of the tongue		
http://purl.obolibrary.org/obo/HP_0000703	Dentinogenesis imperfecta	http://purl.obolibrary.org/obo/HP_3000050	Abnormal odontoid tissue morphology		
http://purl.obolibrary.org/obo/HP_0002414	Spina bifida	http://purl.obolibrary.org/obo/HP_0010301	Spinal dysraphism		
http://purl.obolibrary.org/obo/HP_0003187	Breast hypoplasia	http://purl.obolibrary.org/obo/HP_0010311	Aplasia/Hypoplasia of the breasts		
http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe	http://purl.obolibrary.org/obo/HP_0010160	Abnormal toe epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010343	Aplasia/Hypoplasia of the 5th toe	http://purl.obolibrary.org/obo/HP_0010760	Absent toe		
http://purl.obolibrary.org/obo/HP_0010345	Flexion contracture of the 5th toe	http://purl.obolibrary.org/obo/HP_0005830	Flexion contracture of toe		
http://purl.obolibrary.org/obo/HP_0001629	Ventricular septal defect	http://purl.obolibrary.org/obo/HP_0010438	Abnormal ventricular septum morphology		
http://purl.obolibrary.org/obo/HP_0100258	Preaxial polydactyly	http://purl.obolibrary.org/obo/HP_0010442	Polydactyly		
http://purl.obolibrary.org/obo/HP_0100259	Postaxial polydactyly	http://purl.obolibrary.org/obo/HP_0010442	Polydactyly		
http://purl.obolibrary.org/obo/HP_0100260	Mesoaxial polydactyly	http://purl.obolibrary.org/obo/HP_0010442	Polydactyly		
http://purl.obolibrary.org/obo/HP_0001746	Asplenia	http://purl.obolibrary.org/obo/HP_0010451	Aplasia/Hypoplasia of the spleen		
http://purl.obolibrary.org/obo/HP_0006270	Hypoplastic spleen	http://purl.obolibrary.org/obo/HP_0010451	Aplasia/Hypoplasia of the spleen		
http://purl.obolibrary.org/obo/HP_0000845	Elevated circulating growth hormone concentration	http://purl.obolibrary.org/obo/HP_0032367	Abnormal growth hormone level		
http://purl.obolibrary.org/obo/HP_0000870	Increased circulating prolactin concentration	http://purl.obolibrary.org/obo/HP_0010514	Hyperpituitarism		
http://purl.obolibrary.org/obo/HP_0000778	Hypoplasia of the thymus	http://purl.obolibrary.org/obo/HP_0010515	Aplasia/Hypoplasia of the thymus		
http://purl.obolibrary.org/obo/HP_0005359	Aplasia of the thymus	http://purl.obolibrary.org/obo/HP_0010515	Aplasia/Hypoplasia of the thymus		
http://purl.obolibrary.org/obo/HP_0002870	Obstructive sleep apnea	http://purl.obolibrary.org/obo/HP_0010535	Sleep apnea		
http://purl.obolibrary.org/obo/HP_0004374	Hemiplegia/hemiparesis	http://purl.obolibrary.org/obo/HP_0010549	Weakness due to upper motor neuron dysfunction		
http://purl.obolibrary.org/obo/HP_0010551	Paraplegia/paraparesis	http://purl.obolibrary.org/obo/HP_0010549	Weakness due to upper motor neuron dysfunction		
http://purl.obolibrary.org/obo/HP_0010550	Paraplegia	http://purl.obolibrary.org/obo/HP_0010551	Paraplegia/paraparesis		
http://purl.obolibrary.org/obo/HP_0003370	Flat capital femoral epiphysis	http://purl.obolibrary.org/obo/HP_0030289	Flattened femoral epiphysis		
http://purl.obolibrary.org/obo/HP_0003371	Enlargement of the proximal femoral epiphysis	http://purl.obolibrary.org/obo/HP_0010580	Enlarged epiphyses		
http://purl.obolibrary.org/obo/HP_0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	http://purl.obolibrary.org/obo/HP_0010577	Absent epiphyses		
http://purl.obolibrary.org/obo/HP_0006450	Multicentric ossification of proximal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0009107	Abnormal ossification involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0008784	Wide capital femoral epiphyses	http://purl.obolibrary.org/obo/HP_0010574	Abnormality of the epiphysis of the femoral head		
http://purl.obolibrary.org/obo/HP_0008797	Early ossification of capital femoral epiphyses	http://purl.obolibrary.org/obo/HP_0009107	Abnormal ossification involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0012683	Pineal cyst	http://purl.obolibrary.org/obo/HP_0012681	Abnormal pineal morphology		
http://purl.obolibrary.org/obo/HP_0410278	Pituitary gland cyst	http://purl.obolibrary.org/obo/HP_0010576	Intracranial cystic lesion		
http://purl.obolibrary.org/obo/HP_0004005	Large radial epiphyses	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0006134	Enlarged metacarpal epiphyses	http://purl.obolibrary.org/obo/HP_0005913	Abnormal metacarpal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010165	Enlarged epiphyses of the toes	http://purl.obolibrary.org/obo/HP_0010160	Abnormal toe epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010231	Enlarged epiphyses of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0004010	Small radial epiphyses	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0009194	Small epiphyses of the metacarpals	http://purl.obolibrary.org/obo/HP_0005913	Abnormal metacarpal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010170	Small epiphyses of the toes	http://purl.obolibrary.org/obo/HP_0010160	Abnormal toe epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010236	Small epiphyses of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0012284	Small proximal tibial epiphyses	http://purl.obolibrary.org/obo/HP_0010591	Abnormality of the proximal tibial epiphysis		
http://purl.obolibrary.org/obo/HP_0010762	Chordoma	http://purl.obolibrary.org/obo/HP_0010622	Neoplasm of the skeletal system		
http://purl.obolibrary.org/obo/HP_0000977	Soft skin	http://purl.obolibrary.org/obo/HP_0010647	Abnormal elasticity of skin		
http://purl.obolibrary.org/obo/HP_0008067	Abnormally lax or hyperextensible skin	http://purl.obolibrary.org/obo/HP_0010647	Abnormal elasticity of skin		
http://purl.obolibrary.org/obo/HP_0002435	Meningocele	http://purl.obolibrary.org/obo/HP_0034238	Closed neural tube defect		
http://purl.obolibrary.org/obo/HP_0010652	Abnormal dura mater morphology	http://purl.obolibrary.org/obo/HP_0010651	Abnormal meningeal morphology		
http://purl.obolibrary.org/obo/HP_0100250	Meningeal calcification	http://purl.obolibrary.org/obo/HP_0430048	Intracranial calcification		
http://purl.obolibrary.org/obo/HP_0100700	Abnormal arachnoid mater morphology	http://purl.obolibrary.org/obo/HP_0010651	Abnormal meningeal morphology		
http://purl.obolibrary.org/obo/HP_0100701	Abnormal pia mater	http://purl.obolibrary.org/obo/HP_0010651	Abnormal meningeal morphology		
http://purl.obolibrary.org/obo/HP_0006370	Distal ulnar epiphyseal stippling	http://purl.obolibrary.org/obo/HP_0010600	Abnormal distal ulnar epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0009195	Epiphyseal stippling of the metacarpals	http://purl.obolibrary.org/obo/HP_0010660	Abnormal hand bone ossification		
http://purl.obolibrary.org/obo/HP_0010171	Epiphyseal stippling of toe phalanges	http://purl.obolibrary.org/obo/HP_0010160	Abnormal toe epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010237	Epiphyseal stippling of finger phalanges	http://purl.obolibrary.org/obo/HP_0010660	Abnormal hand bone ossification		
http://purl.obolibrary.org/obo/HP_0012286	Abnormal hypothalamus morphology	http://purl.obolibrary.org/obo/HP_0010662	Abnormal diencephalon morphology		
http://purl.obolibrary.org/obo/HP_0005905	Abnormal cervical curvature	http://purl.obolibrary.org/obo/HP_0046508	Abnormal cervical spine morphology		
http://purl.obolibrary.org/obo/HP_0003307	Hyperlordosis	http://purl.obolibrary.org/obo/HP_0010674	Abnormal curvature of the vertebral column		
http://purl.obolibrary.org/obo/HP_0003496	Increased circulating IgM level	http://purl.obolibrary.org/obo/HP_0410243	Abnormal circulating IgM concentration		
http://purl.obolibrary.org/obo/HP_0031047	Paraproteinemia	http://purl.obolibrary.org/obo/HP_0010702	Increased circulating immunoglobulin concentration		
http://purl.obolibrary.org/obo/HP_0002213	Fine hair	http://purl.obolibrary.org/obo/HP_0010719	Abnormality of hair texture		
http://purl.obolibrary.org/obo/HP_0002224	Woolly hair	http://purl.obolibrary.org/obo/HP_0010719	Abnormality of hair texture		
http://purl.obolibrary.org/obo/HP_0011359	Dry hair	http://purl.obolibrary.org/obo/HP_0010719	Abnormality of hair texture		
http://purl.obolibrary.org/obo/HP_0010752	Cleft mandible	http://purl.obolibrary.org/obo/HP_0010753	Midline defect of mandible		
http://purl.obolibrary.org/obo/HP_0001849	Foot oligodactyly	http://purl.obolibrary.org/obo/HP_0012165	Oligodactyly		
http://purl.obolibrary.org/obo/HP_0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010325	Aplasia/Hypoplasia of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010319	Abnormal second toe morphology		
http://purl.obolibrary.org/obo/HP_0010331	Aplasia/Hypoplasia of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010320	Abnormal third toe morphology		
http://purl.obolibrary.org/obo/HP_0010337	Aplasia/Hypoplasia of the 4th toe	http://purl.obolibrary.org/obo/HP_0010321	Abnormal fourth toe morphology		
http://purl.obolibrary.org/obo/HP_0002832	Calcific stippling	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0005213	Pancreatic calcification	http://purl.obolibrary.org/obo/HP_0012090	Abnormal pancreas morphology		
http://purl.obolibrary.org/obo/HP_0006514	Intraalveolar nodular calcifications	http://purl.obolibrary.org/obo/HP_0033137	Abnormal pulmonary alveolar system morphology		
http://purl.obolibrary.org/obo/HP_0007618	Subcutaneous calcification	http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin		
http://purl.obolibrary.org/obo/HP_0007862	Retinal calcification	http://purl.obolibrary.org/obo/HP_0030506	Yellow/white retinal lesion		
http://purl.obolibrary.org/obo/HP_0008131	Tarsal stippling	http://purl.obolibrary.org/obo/HP_0008369	Abnormal tarsal ossification		
http://purl.obolibrary.org/obo/HP_0008754	Laryngeal calcification	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0010512	Adrenal calcification	http://purl.obolibrary.org/obo/HP_0011732	Abnormal adrenal morphology		
http://purl.obolibrary.org/obo/HP_0011915	Cardiovascular calcification	http://purl.obolibrary.org/obo/HP_0030680	Abnormal cardiovascular system morphology		
http://purl.obolibrary.org/obo/HP_0100249	Calcification of muscles	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0430048	Intracranial calcification	http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification		
http://purl.obolibrary.org/obo/HP_0004299	Hernia of the abdominal wall	http://purl.obolibrary.org/obo/HP_0100790	Hernia		
http://purl.obolibrary.org/obo/HP_0002152	Hyperproteinemia	http://purl.obolibrary.org/obo/HP_0010876	Abnormal circulating protein concentration		
http://purl.obolibrary.org/obo/HP_0003075	Hypoproteinemia	http://purl.obolibrary.org/obo/HP_0010876	Abnormal circulating protein concentration		
http://purl.obolibrary.org/obo/HP_0012116	Abnormal circulating albumin concentration	http://purl.obolibrary.org/obo/HP_0010876	Abnormal circulating protein concentration		
http://purl.obolibrary.org/obo/HP_0001196	Short umbilical cord	http://purl.obolibrary.org/obo/HP_0010881	Abnormality of the umbilical cord		
http://purl.obolibrary.org/obo/HP_0011403	Abnormal umbilical cord blood vessel morphology	http://purl.obolibrary.org/obo/HP_0010881	Abnormality of the umbilical cord		
http://purl.obolibrary.org/obo/HP_0011417	Long umbilical cord	http://purl.obolibrary.org/obo/HP_0010881	Abnormality of the umbilical cord		
http://purl.obolibrary.org/obo/HP_0410210	Abnormal cord blood measurement	http://purl.obolibrary.org/obo/HP_0010881	Abnormality of the umbilical cord		
http://purl.obolibrary.org/obo/HP_0004923	Hyperphenylalaninemia	http://purl.obolibrary.org/obo/HP_0010893	Abnormal circulating phenylalanine concentration		
http://purl.obolibrary.org/obo/HP_0500141	Hypophenylalaninemia	http://purl.obolibrary.org/obo/HP_0010893	Abnormal circulating phenylalanine concentration		
http://purl.obolibrary.org/obo/HP_0003231	Hypertyrosinemia	http://purl.obolibrary.org/obo/HP_0010917	Abnormal circulating tyrosine concentration		
http://purl.obolibrary.org/obo/HP_0500133	Hypotyrosinemia	http://purl.obolibrary.org/obo/HP_0010917	Abnormal circulating tyrosine concentration		
http://purl.obolibrary.org/obo/HP_0002160	Hyperhomocystinemia	http://purl.obolibrary.org/obo/HP_0010919	Abnormal circulating homocysteine concentration		
http://purl.obolibrary.org/obo/HP_0002902	Hyponatremia	http://purl.obolibrary.org/obo/HP_0010931	Abnormal blood sodium concentration		
http://purl.obolibrary.org/obo/HP_0003228	Hypernatremia	http://purl.obolibrary.org/obo/HP_0010931	Abnormal blood sodium concentration		
http://purl.obolibrary.org/obo/HP_0004353	Abnormal circulating pyrimidine concentration	http://purl.obolibrary.org/obo/HP_0010932	Abnormal circulating nucleobase concentration		
http://purl.obolibrary.org/obo/HP_0000069	Abnormality of the ureter	http://purl.obolibrary.org/obo/HP_0010935	Abnormality of the upper urinary tract		
http://purl.obolibrary.org/obo/HP_0000077	Abnormality of the kidney	http://purl.obolibrary.org/obo/HP_0010935	Abnormality of the upper urinary tract		
http://purl.obolibrary.org/obo/HP_0000014	Abnormality of the bladder	http://purl.obolibrary.org/obo/HP_0010936	Abnormality of the lower urinary tract		
http://purl.obolibrary.org/obo/HP_0000795	Abnormality of the urethra	http://purl.obolibrary.org/obo/HP_0010936	Abnormality of the lower urinary tract		
http://purl.obolibrary.org/obo/HP_0000429	Abnormal morphology of the nasal alae	http://purl.obolibrary.org/obo/HP_0010938	Abnormal external nose morphology		
http://purl.obolibrary.org/obo/HP_0000436	Abnormal nasal tip morphology	http://purl.obolibrary.org/obo/HP_0010938	Abnormal external nose morphology		
http://purl.obolibrary.org/obo/HP_0011119	Abnormal nasal dorsum morphology	http://purl.obolibrary.org/obo/HP_0010938	Abnormal external nose morphology		
http://purl.obolibrary.org/obo/HP_0000021	Megacystis	http://purl.obolibrary.org/obo/HP_0010955	Dilatation of the bladder		
http://purl.obolibrary.org/obo/HP_0001931	Hypochromic anemia	http://purl.obolibrary.org/obo/HP_0010972	Anemia of inadequate production		
http://purl.obolibrary.org/obo/HP_0001935	Microcytic anemia	http://purl.obolibrary.org/obo/HP_0010972	Anemia of inadequate production		
http://purl.obolibrary.org/obo/HP_0001972	Macrocytic anemia	http://purl.obolibrary.org/obo/HP_0010972	Anemia of inadequate production		
http://purl.obolibrary.org/obo/HP_0001924	Sideroblastic anemia	http://purl.obolibrary.org/obo/HP_0010972	Anemia of inadequate production		
http://purl.obolibrary.org/obo/HP_0001911	Abnormal granulocyte morphology	http://purl.obolibrary.org/obo/HP_0010974	Abnormal myeloid leukocyte morphology		
http://purl.obolibrary.org/obo/HP_0004311	Abnormal macrophage morphology	http://purl.obolibrary.org/obo/HP_0010974	Abnormal myeloid leukocyte morphology		
http://purl.obolibrary.org/obo/HP_0010977	Abnormal phagocytosis	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0100326	Immunologic hypersensitivity	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0002721	Immunodeficiency	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0002960	Autoimmunity	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0005368	Abnormality of humoral immunity	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0011111	Abnormal immune serum protein physiology	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0012647	Abnormal inflammatory response	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0032101	Unusual infection	http://purl.obolibrary.org/obo/HP_0010978	Abnormality of immune system physiology		
http://purl.obolibrary.org/obo/HP_0001929	Reduced factor XI activity	http://purl.obolibrary.org/obo/HP_0010989	Abnormality of the intrinsic pathway		
http://purl.obolibrary.org/obo/HP_0004841	Reduced factor XII activity	http://purl.obolibrary.org/obo/HP_0010989	Abnormality of the intrinsic pathway		
http://purl.obolibrary.org/obo/HP_0008321	Reduced factor X activity	http://purl.obolibrary.org/obo/HP_0010990	Abnormality of the common coagulation pathway		
http://purl.obolibrary.org/obo/HP_0010318	Aplasia/Hypoplasia of the abdominal wall musculature	http://purl.obolibrary.org/obo/HP_0010991	Abnormal morphology of the abdominal musculature		
http://purl.obolibrary.org/obo/HP_0002134	Abnormal basal ganglia morphology	http://purl.obolibrary.org/obo/HP_0010993	Abnormal cerebral subcortex morphology		
http://purl.obolibrary.org/obo/HP_0002500	Abnormal cerebral white matter morphology	http://purl.obolibrary.org/obo/HP_0010993	Abnormal cerebral subcortex morphology		
http://purl.obolibrary.org/obo/HP_0040145	Dicarboxylic acidemia	http://purl.obolibrary.org/obo/HP_0032368	Acidemia		
http://purl.obolibrary.org/obo/HP_0033479	Abnormal circulating bilirubin concentration	http://purl.obolibrary.org/obo/HP_0010995	Abnormal circulating dicarboxylic acid concentration		
http://purl.obolibrary.org/obo/HP_0035012	Abnormal femoral artery morphology	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		
http://purl.obolibrary.org/obo/HP_0001679	Abnormal aortic morphology	http://purl.obolibrary.org/obo/HP_0030962	Abnormal morphology of the great vessels		
http://purl.obolibrary.org/obo/HP_0006704	Abnormal coronary artery morphology	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		
http://purl.obolibrary.org/obo/HP_0009145	Abnormal cerebral artery morphology	http://purl.obolibrary.org/obo/HP_0100659	Abnormal cerebral vascular morphology		
http://purl.obolibrary.org/obo/HP_0100545	Arterial stenosis	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		
http://purl.obolibrary.org/obo/HP_0012326	Abnormal celiac artery morphology	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		
http://purl.obolibrary.org/obo/HP_0030321	Abnormal vertebral artery morphology	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		
http://purl.obolibrary.org/obo/HP_3000024	Abnormal facial artery morphology	http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology		
http://purl.obolibrary.org/obo/HP_0011012	Abnormal circulating polysaccharide concentration	http://purl.obolibrary.org/obo/HP_0011013	Abnormal circulating carbohydrate concentration		
http://purl.obolibrary.org/obo/HP_0000842	Hyperinsulinemia	http://purl.obolibrary.org/obo/HP_0040214	Abnormal circulating insulin concentration		
http://purl.obolibrary.org/obo/HP_0000855	Insulin resistance	http://purl.obolibrary.org/obo/HP_0011014	Abnormal glucose homeostasis		
http://purl.obolibrary.org/obo/HP_0001952	Glucose intolerance	http://purl.obolibrary.org/obo/HP_0011014	Abnormal glucose homeostasis		
http://purl.obolibrary.org/obo/HP_0011015	Abnormal blood glucose concentration	http://purl.obolibrary.org/obo/HP_0011014	Abnormal glucose homeostasis		
http://purl.obolibrary.org/obo/HP_0005959	Impaired gluconeogenesis	http://purl.obolibrary.org/obo/HP_0011014	Abnormal glucose homeostasis		
http://purl.obolibrary.org/obo/HP_0001943	Hypoglycemia	http://purl.obolibrary.org/obo/HP_0011015	Abnormal blood glucose concentration		
http://purl.obolibrary.org/obo/HP_0003074	Hyperglycemia	http://purl.obolibrary.org/obo/HP_0011015	Abnormal blood glucose concentration		
http://purl.obolibrary.org/obo/HP_0002916	Abnormality of chromosome segregation	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		
http://purl.obolibrary.org/obo/HP_0003254	Abnormality of DNA repair	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		
http://purl.obolibrary.org/obo/HP_0003575	Increased intracellular sodium	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		
http://purl.obolibrary.org/obo/HP_0004356	Abnormality of lysosomal metabolism	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		
http://purl.obolibrary.org/obo/HP_0004371	Abnormality of glycosaminoglycan metabolism	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		
http://purl.obolibrary.org/obo/HP_0011018	Abnormality of the cell cycle	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		
http://purl.obolibrary.org/obo/HP_0011019	Abnormality of chromosome condensation	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		
http://purl.obolibrary.org/obo/HP_0012103	Abnormality of the mitochondrion	http://purl.obolibrary.org/obo/HP_0011017	Abnormal cellular physiology		
http://purl.obolibrary.org/obo/HP_0003451	Increased rate of premature chromosome condensation	http://purl.obolibrary.org/obo/HP_0011019	Abnormality of chromosome condensation		
http://purl.obolibrary.org/obo/HP_0001279	Syncope	http://purl.obolibrary.org/obo/HP_0007185	Loss of consciousness		
http://purl.obolibrary.org/obo/HP_0001635	Congestive heart failure	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		
http://purl.obolibrary.org/obo/HP_0011028	Abnormality of blood circulation	http://purl.obolibrary.org/obo/HP_0011025	Abnormal cardiovascular system physiology		
http://purl.obolibrary.org/obo/HP_0003250	Aplasia of the vagina	http://purl.obolibrary.org/obo/HP_0011026	Aplasia/Hypoplasia of the vagina		
http://purl.obolibrary.org/obo/HP_0008726	Hypoplasia of the vagina	http://purl.obolibrary.org/obo/HP_0011026	Aplasia/Hypoplasia of the vagina		
http://purl.obolibrary.org/obo/HP_0000969	Edema	http://purl.obolibrary.org/obo/HP_0011032	Abnormality of fluid regulation		
http://purl.obolibrary.org/obo/HP_0001944	Dehydration	http://purl.obolibrary.org/obo/HP_0011032	Abnormality of fluid regulation		
http://purl.obolibrary.org/obo/HP_0002048	Renal cortical atrophy	http://purl.obolibrary.org/obo/HP_0012585	Renal atrophy		
http://purl.obolibrary.org/obo/HP_0025418	Renal cortical necrosis	http://purl.obolibrary.org/obo/HP_0032618	Renal necrosis		
http://purl.obolibrary.org/obo/HP_0005209	Intrahepatic bile duct cysts	http://purl.obolibrary.org/obo/HP_0011040	Abnormal intrahepatic bile duct morphology		
http://purl.obolibrary.org/obo/HP_0005248	Intrahepatic biliary atresia	http://purl.obolibrary.org/obo/HP_0005912	Biliary atresia		
http://purl.obolibrary.org/obo/HP_0006571	Reduced number of intrahepatic bile ducts	http://purl.obolibrary.org/obo/HP_0011040	Abnormal intrahepatic bile duct morphology		
http://purl.obolibrary.org/obo/HP_0002153	Hyperkalemia	http://purl.obolibrary.org/obo/HP_0011042	Abnormal circulating potassium concentration		
http://purl.obolibrary.org/obo/HP_0002900	Hypokalemia	http://purl.obolibrary.org/obo/HP_0011042	Abnormal circulating potassium concentration		
http://purl.obolibrary.org/obo/HP_0002920	Decreased circulating ACTH concentration	http://purl.obolibrary.org/obo/HP_0011043	Abnormal circulating adrenocorticotropin concentration		
http://purl.obolibrary.org/obo/HP_0003154	Increased circulating ACTH level	http://purl.obolibrary.org/obo/HP_0011043	Abnormal circulating adrenocorticotropin concentration		
http://purl.obolibrary.org/obo/HP_0000682	Abnormal dental enamel morphology	http://purl.obolibrary.org/obo/HP_3000050	Abnormal odontoid tissue morphology		
http://purl.obolibrary.org/obo/HP_0000685	Hypoplasia of teeth	http://purl.obolibrary.org/obo/HP_0011061	Abnormality of dental structure		
http://purl.obolibrary.org/obo/HP_0006479	Abnormal dental pulp morphology	http://purl.obolibrary.org/obo/HP_0011061	Abnormality of dental structure		
http://purl.obolibrary.org/obo/HP_0010299	Abnormal dentin morphology	http://purl.obolibrary.org/obo/HP_0011061	Abnormality of dental structure		
http://purl.obolibrary.org/obo/HP_0011073	Abnormality of dental color	http://purl.obolibrary.org/obo/HP_0011061	Abnormality of dental structure		
http://purl.obolibrary.org/obo/HP_0100717	Abnormal cementum morphology	http://purl.obolibrary.org/obo/HP_3000050	Abnormal odontoid tissue morphology		
http://purl.obolibrary.org/obo/HP_0005235	Jejunal atresia	http://purl.obolibrary.org/obo/HP_0005265	Abnormal jejunum morphology		
http://purl.obolibrary.org/obo/HP_0000457	Depressed nasal ridge	http://purl.obolibrary.org/obo/HP_0011119	Abnormal nasal dorsum morphology		
http://purl.obolibrary.org/obo/HP_0000980	Pallor	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0001072	Thickened skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0008066	Abnormal blistering of the skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0010647	Abnormal elasticity of skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0011355	Localized skin lesion	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0011356	Regional abnormality of skin	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0001000	Abnormality of skin pigmentation	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0011124	Abnormal epidermal morphology	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0030764	Ochronosis	http://purl.obolibrary.org/obo/HP_0011121	Abnormal skin morphology		
http://purl.obolibrary.org/obo/HP_0000989	Pruritus	http://purl.obolibrary.org/obo/HP_0011122	Abnormality of skin physiology		
http://purl.obolibrary.org/obo/HP_0011123	Inflammatory abnormality of the skin	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0000971	Abnormal sweat gland morphology	http://purl.obolibrary.org/obo/HP_0011138	Abnormal skin adnexa morphology		
http://purl.obolibrary.org/obo/HP_0001595	Abnormal hair morphology	http://purl.obolibrary.org/obo/HP_0011138	Abnormal skin adnexa morphology		
http://purl.obolibrary.org/obo/HP_0001597	Abnormal nail morphology	http://purl.obolibrary.org/obo/HP_0011138	Abnormal skin adnexa morphology		
http://purl.obolibrary.org/obo/HP_0032226	Abnormal sebaceous gland morphology	http://purl.obolibrary.org/obo/HP_0011138	Abnormal skin adnexa morphology		
http://purl.obolibrary.org/obo/HP_0005469	Flat occiput	http://purl.obolibrary.org/obo/HP_0011217	Abnormal shape of the occiput		
http://purl.obolibrary.org/obo/HP_0010783	Erythema	http://purl.obolibrary.org/obo/HP_0011276	Vascular skin abnormality		
http://purl.obolibrary.org/obo/HP_0001025	Urticaria	http://purl.obolibrary.org/obo/HP_0011276	Vascular skin abnormality		
http://purl.obolibrary.org/obo/HP_0003646	Bicarbonaturia	http://purl.obolibrary.org/obo/HP_0011279	Abnormality of urine bicarbonate level		
http://purl.obolibrary.org/obo/HP_0002150	Hypercalciuria	http://purl.obolibrary.org/obo/HP_0011280	Abnormality of urine calcium concentration		
http://purl.obolibrary.org/obo/HP_0003127	Hypocalciuria	http://purl.obolibrary.org/obo/HP_0011280	Abnormality of urine calcium concentration		
http://purl.obolibrary.org/obo/HP_0001317	Abnormal cerebellum morphology	http://purl.obolibrary.org/obo/HP_0011283	Abnormal metencephalon morphology		
http://purl.obolibrary.org/obo/HP_0007027	Poorly formed metencephalon	http://purl.obolibrary.org/obo/HP_0011283	Abnormal metencephalon morphology		
http://purl.obolibrary.org/obo/HP_0010442	Polydactyly	http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology		
http://purl.obolibrary.org/obo/HP_0011927	Short digit	http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology		
http://purl.obolibrary.org/obo/HP_0012165	Oligodactyly	http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology		
http://purl.obolibrary.org/obo/HP_0001159	Syndactyly	http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology		
http://purl.obolibrary.org/obo/HP_0004099	Macrodactyly	http://purl.obolibrary.org/obo/HP_0011297	Abnormal digit morphology		
http://purl.obolibrary.org/obo/HP_0006009	Broad phalanx	http://purl.obolibrary.org/obo/HP_0005622	Broad long bones		
http://purl.obolibrary.org/obo/HP_0009630	Broad proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009852	Broad proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0003026	Short long bone	http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology		
http://purl.obolibrary.org/obo/HP_0005930	Abnormal epiphysis morphology	http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology		
http://purl.obolibrary.org/obo/HP_0006392	Increased density of long bones	http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density		
http://purl.obolibrary.org/obo/HP_0005622	Broad long bones	http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology		
http://purl.obolibrary.org/obo/HP_0000239	Large fontanelles	http://purl.obolibrary.org/obo/HP_0011328	Abnormal fontanelle morphology		
http://purl.obolibrary.org/obo/HP_0005458	Premature closure of fontanelles	http://purl.obolibrary.org/obo/HP_0011328	Abnormal fontanelle morphology		
http://purl.obolibrary.org/obo/HP_0005486	Small fontanelle	http://purl.obolibrary.org/obo/HP_0011328	Abnormal fontanelle morphology		
http://purl.obolibrary.org/obo/HP_0005441	Sclerotic cranial sutures	http://purl.obolibrary.org/obo/HP_0011329	Abnormality of cranial sutures		
http://purl.obolibrary.org/obo/HP_0010537	Wide cranial sutures	http://purl.obolibrary.org/obo/HP_0011329	Abnormality of cranial sutures		
http://purl.obolibrary.org/obo/HP_0000154	Wide mouth	http://purl.obolibrary.org/obo/HP_0011337	Abnormality of mouth size		
http://purl.obolibrary.org/obo/HP_0000160	Narrow mouth	http://purl.obolibrary.org/obo/HP_0011337	Abnormality of mouth size		
http://purl.obolibrary.org/obo/HP_0000194	Open mouth	http://purl.obolibrary.org/obo/HP_0011338	Abnormality of mouth shape		
http://purl.obolibrary.org/obo/HP_0000207	Triangular mouth	http://purl.obolibrary.org/obo/HP_0011338	Abnormality of mouth shape		
http://purl.obolibrary.org/obo/HP_0009941	Asymmetry of the mouth	http://purl.obolibrary.org/obo/HP_0011338	Abnormality of mouth shape		
http://purl.obolibrary.org/obo/HP_0000968	Ectodermal dysplasia	http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin		
http://purl.obolibrary.org/obo/HP_0000992	Cutaneous photosensitivity	http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin		
http://purl.obolibrary.org/obo/HP_0001005	Dermatological manifestations of systemic disorders	http://purl.obolibrary.org/obo/HP_0011354	Generalized abnormality of skin		
http://purl.obolibrary.org/obo/HP_0000987	Atypical scarring of skin	http://purl.obolibrary.org/obo/HP_0100699	Scarring		
http://purl.obolibrary.org/obo/HP_0000991	Xanthomatosis	http://purl.obolibrary.org/obo/HP_0011355	Localized skin lesion		
http://purl.obolibrary.org/obo/HP_0008065	Aplasia/Hypoplasia of the skin	http://purl.obolibrary.org/obo/HP_0011355	Localized skin lesion		
http://purl.obolibrary.org/obo/HP_0200036	Skin nodule	http://purl.obolibrary.org/obo/HP_0011355	Localized skin lesion		
http://purl.obolibrary.org/obo/HP_0200042	Skin ulcer	http://purl.obolibrary.org/obo/HP_0011355	Localized skin lesion		
http://purl.obolibrary.org/obo/HP_0000998	Hypertrichosis	http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity		
http://purl.obolibrary.org/obo/HP_0001007	Hirsutism	http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity		
http://purl.obolibrary.org/obo/HP_0002298	Absent hair	http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity		
http://purl.obolibrary.org/obo/HP_0001596	Alopecia	http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity		
http://purl.obolibrary.org/obo/HP_0008070	Sparse hair	http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity		
http://purl.obolibrary.org/obo/HP_0500262	Atrichia	http://purl.obolibrary.org/obo/HP_0011362	Abnormal hair quantity		
http://purl.obolibrary.org/obo/HP_0000962	Hyperkeratosis	http://purl.obolibrary.org/obo/HP_0011368	Epidermal thickening		
http://purl.obolibrary.org/obo/HP_0001751	Abnormal vestibular function	http://purl.obolibrary.org/obo/HP_0011389	Functional abnormality of the inner ear		
http://purl.obolibrary.org/obo/HP_0000407	Sensorineural hearing impairment	http://purl.obolibrary.org/obo/HP_0000365	Hearing impairment		
http://purl.obolibrary.org/obo/HP_0000375	Abnormal cochlea morphology	http://purl.obolibrary.org/obo/HP_0011390	Abnormal inner ear morphology		
http://purl.obolibrary.org/obo/HP_0008774	Aplasia/Hypoplasia of the inner ear	http://purl.obolibrary.org/obo/HP_0008771	Aplasia/Hypoplasia of the ear		
http://purl.obolibrary.org/obo/HP_0011376	Abnormal morphology of the vestibule of the inner ear	http://purl.obolibrary.org/obo/HP_0011390	Abnormal inner ear morphology		
http://purl.obolibrary.org/obo/HP_0011384	Abnormality of the internal auditory canal	http://purl.obolibrary.org/obo/HP_0011390	Abnormal inner ear morphology		
http://purl.obolibrary.org/obo/HP_0011391	Abnormal inner ear nerve morphology	http://purl.obolibrary.org/obo/HP_0011390	Abnormal inner ear morphology		
http://purl.obolibrary.org/obo/HP_0002188	Delayed CNS myelination	http://purl.obolibrary.org/obo/HP_0012448	Delayed myelination		
http://purl.obolibrary.org/obo/HP_0003429	CNS hypomyelination	http://purl.obolibrary.org/obo/HP_0011400	Abnormal CNS myelination		
http://purl.obolibrary.org/obo/HP_0007305	CNS demyelination	http://purl.obolibrary.org/obo/HP_0011400	Abnormal CNS myelination		
http://purl.obolibrary.org/obo/HP_0012754	CNS hypermyelination	http://purl.obolibrary.org/obo/HP_0011400	Abnormal CNS myelination		
http://purl.obolibrary.org/obo/HP_0003113	Hypochloremia	http://purl.obolibrary.org/obo/HP_0011422	Abnormal blood chloride concentration		
http://purl.obolibrary.org/obo/HP_0011423	Hyperchloremia	http://purl.obolibrary.org/obo/HP_0011422	Abnormal blood chloride concentration		
http://purl.obolibrary.org/obo/HP_0010945	Fetal pyelectasis	http://purl.obolibrary.org/obo/HP_0010944	Abnormal renal pelvis morphology		
http://purl.obolibrary.org/obo/HP_0002071	Abnormality of extrapyramidal motor function	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_0002493	Upper motor neuron dysfunction	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_0002524	Cataplexy	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_0004305	Involuntary movements	http://purl.obolibrary.org/obo/HP_0100022	Abnormality of movement		
http://purl.obolibrary.org/obo/HP_0003470	Paralysis	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_4000074	Involuntary vocalization	http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function		
http://purl.obolibrary.org/obo/HP_0002360	Sleep disturbance	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		
http://purl.obolibrary.org/obo/HP_0001249	Intellectual disability	http://purl.obolibrary.org/obo/HP_0012759	Neurodevelopmental abnormality		
http://purl.obolibrary.org/obo/HP_0025766	Abnormal affect	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		
http://purl.obolibrary.org/obo/HP_0025792	Abnormal cognitive process	http://purl.obolibrary.org/obo/HP_0011446	Abnormality of mental function		
http://purl.obolibrary.org/obo/HP_0002383	Infectious encephalitis	http://purl.obolibrary.org/obo/HP_0011450	Unusual CNS infection		
http://purl.obolibrary.org/obo/HP_0001287	Meningitis	http://purl.obolibrary.org/obo/HP_0011450	Unusual CNS infection		
http://purl.obolibrary.org/obo/HP_0000405	Conductive hearing impairment	http://purl.obolibrary.org/obo/HP_0000365	Hearing impairment		
http://purl.obolibrary.org/obo/HP_0002014	Diarrhea	http://purl.obolibrary.org/obo/HP_0011458	Abdominal symptom		
http://purl.obolibrary.org/obo/HP_0002017	Nausea and vomiting	http://purl.obolibrary.org/obo/HP_0011458	Abdominal symptom		
http://purl.obolibrary.org/obo/HP_0002019	Constipation	http://purl.obolibrary.org/obo/HP_0011458	Abdominal symptom		
http://purl.obolibrary.org/obo/HP_0002027	Abdominal pain	http://purl.obolibrary.org/obo/HP_0012531	Pain		
http://purl.obolibrary.org/obo/HP_0003270	Abdominal distention	http://purl.obolibrary.org/obo/HP_0011458	Abdominal symptom		
http://purl.obolibrary.org/obo/HP_0001092	Absent lacrimal punctum	http://purl.obolibrary.org/obo/HP_0011479	Abnormal lacrimal punctum morphology		
http://purl.obolibrary.org/obo/HP_0007820	Lacrimal punctal atresia	http://purl.obolibrary.org/obo/HP_0011479	Abnormal lacrimal punctum morphology		
http://purl.obolibrary.org/obo/HP_0007892	Hypoplasia of the lacrimal punctum	http://purl.obolibrary.org/obo/HP_0011479	Abnormal lacrimal punctum morphology		
http://purl.obolibrary.org/obo/HP_0010748	Ectopic lacrimal punctum	http://purl.obolibrary.org/obo/HP_0011479	Abnormal lacrimal punctum morphology		
http://purl.obolibrary.org/obo/HP_0000564	Lacrimal duct atresia	http://purl.obolibrary.org/obo/HP_0011481	Abnormal lacrimal duct morphology		
http://purl.obolibrary.org/obo/HP_0000579	Nasolacrimal duct obstruction	http://purl.obolibrary.org/obo/HP_0011481	Abnormal lacrimal duct morphology		
http://purl.obolibrary.org/obo/HP_0007900	Hypoplastic lacrimal duct	http://purl.obolibrary.org/obo/HP_0011481	Abnormal lacrimal duct morphology		
http://purl.obolibrary.org/obo/HP_0007925	Lacrimal duct aplasia	http://purl.obolibrary.org/obo/HP_0011481	Abnormal lacrimal duct morphology		
http://purl.obolibrary.org/obo/HP_0007993	Malformed lacrimal duct	http://purl.obolibrary.org/obo/HP_0011481	Abnormal lacrimal duct morphology		
http://purl.obolibrary.org/obo/HP_0000491	Keratitis	http://purl.obolibrary.org/obo/HP_0100533	Inflammatory abnormality of the eye		
http://purl.obolibrary.org/obo/HP_0000651	Diplopia	http://purl.obolibrary.org/obo/HP_0011514	Abnormality of binocular vision		
http://purl.obolibrary.org/obo/HP_0001669	Transposition of the great arteries	http://purl.obolibrary.org/obo/HP_0011603	Congenital malformation of the great arteries		
http://purl.obolibrary.org/obo/HP_0001710	Conotruncal defect	http://purl.obolibrary.org/obo/HP_0011603	Congenital malformation of the great arteries		
http://purl.obolibrary.org/obo/HP_0001660	Truncus arteriosus	http://purl.obolibrary.org/obo/HP_0011603	Congenital malformation of the great arteries		
http://purl.obolibrary.org/obo/HP_0001662	Bradycardia	http://purl.obolibrary.org/obo/HP_0011675	Arrhythmia		
http://purl.obolibrary.org/obo/HP_0001962	Palpitations	http://purl.obolibrary.org/obo/HP_0011675	Arrhythmia		
http://purl.obolibrary.org/obo/HP_0001649	Tachycardia	http://purl.obolibrary.org/obo/HP_0011675	Arrhythmia		
http://purl.obolibrary.org/obo/HP_0004308	Ventricular arrhythmia	http://purl.obolibrary.org/obo/HP_0011675	Arrhythmia		
http://purl.obolibrary.org/obo/HP_0001376	Limitation of joint mobility	http://purl.obolibrary.org/obo/HP_0011729	Abnormality of joint mobility		
http://purl.obolibrary.org/obo/HP_0001382	Joint hypermobility	http://purl.obolibrary.org/obo/HP_0011729	Abnormality of joint mobility		
http://purl.obolibrary.org/obo/HP_0000835	Adrenal hypoplasia	http://purl.obolibrary.org/obo/HP_0011732	Abnormal adrenal morphology		
http://purl.obolibrary.org/obo/HP_0000849	Adrenocortical abnormality	http://purl.obolibrary.org/obo/HP_0011732	Abnormal adrenal morphology		
http://purl.obolibrary.org/obo/HP_0008216	Adrenal gland dysgenesis	http://purl.obolibrary.org/obo/HP_0011732	Abnormal adrenal morphology		
http://purl.obolibrary.org/obo/HP_0008221	Adrenal hyperplasia	http://purl.obolibrary.org/obo/HP_0011732	Abnormal adrenal morphology		
http://purl.obolibrary.org/obo/HP_0011742	Ectopic adrenal gland	http://purl.obolibrary.org/obo/HP_0011732	Abnormal adrenal morphology		
http://purl.obolibrary.org/obo/HP_0000846	Adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0011733	Abnormality of adrenal physiology		
http://purl.obolibrary.org/obo/HP_0002717	Adrenal overactivity	http://purl.obolibrary.org/obo/HP_0011733	Abnormality of adrenal physiology		
http://purl.obolibrary.org/obo/HP_0010514	Hyperpituitarism	http://purl.obolibrary.org/obo/HP_0011747	Abnormality of the anterior pituitary		
http://purl.obolibrary.org/obo/HP_0010513	Pituitary calcification	http://purl.obolibrary.org/obo/HP_0430048	Intracranial calcification		
http://purl.obolibrary.org/obo/HP_0010625	Anterior pituitary dysgenesis	http://purl.obolibrary.org/obo/HP_0011747	Abnormality of the anterior pituitary		
http://purl.obolibrary.org/obo/HP_0012731	Ectopic anterior pituitary gland	http://purl.obolibrary.org/obo/HP_0011747	Abnormality of the anterior pituitary		
http://purl.obolibrary.org/obo/HP_0040075	Hypopituitarism	http://purl.obolibrary.org/obo/HP_0011747	Abnormality of the anterior pituitary		
http://purl.obolibrary.org/obo/HP_0011753	Posterior pituitary dysgenesis	http://purl.obolibrary.org/obo/HP_0011751	Abnormal posterior pituitary morphogenesis		
http://purl.obolibrary.org/obo/HP_0000829	Hypoparathyroidism	http://purl.obolibrary.org/obo/HP_0011767	Abnormality of the parathyroid physiology		
http://purl.obolibrary.org/obo/HP_0000843	Hyperparathyroidism	http://purl.obolibrary.org/obo/HP_0011767	Abnormality of the parathyroid physiology		
http://purl.obolibrary.org/obo/HP_0000860	Parathyroid hypoplasia	http://purl.obolibrary.org/obo/HP_0011768	Parathyroid dysgenesis		
http://purl.obolibrary.org/obo/HP_0008211	Parathyroid agenesis	http://purl.obolibrary.org/obo/HP_0011768	Parathyroid dysgenesis		
http://purl.obolibrary.org/obo/HP_0011769	Ectopic parathyroid	http://purl.obolibrary.org/obo/HP_0011768	Parathyroid dysgenesis		
http://purl.obolibrary.org/obo/HP_0000853	Goiter	http://purl.obolibrary.org/obo/HP_0011772	Abnormal thyroid morphology		
http://purl.obolibrary.org/obo/HP_0100646	Thyroiditis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0008188	Thyroid dysgenesis	http://purl.obolibrary.org/obo/HP_0011772	Abnormal thyroid morphology		
http://purl.obolibrary.org/obo/HP_0008249	Thyroid hyperplasia	http://purl.obolibrary.org/obo/HP_0011772	Abnormal thyroid morphology		
http://purl.obolibrary.org/obo/HP_0010566	Hamartoma	http://purl.obolibrary.org/obo/HP_0011792	Neoplasm by histology		
http://purl.obolibrary.org/obo/HP_0010622	Neoplasm of the skeletal system	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0000282	Facial edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0000301	Abnormality of facial musculature	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0002486	Myotonia	http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology		
http://purl.obolibrary.org/obo/HP_0003552	Muscle stiffness	http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology		
http://purl.obolibrary.org/obo/HP_0003800	Muscle abnormality related to mitochondrial dysfunction	http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology		
http://purl.obolibrary.org/obo/HP_0003808	Abnormal muscle tone	http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology		
http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness	http://purl.obolibrary.org/obo/HP_0011804	Abnormal muscle physiology		
http://purl.obolibrary.org/obo/HP_0000775	Abnormality of the diaphragm	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0001469	Abnormal morphology of the pelvis musculature	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0003198	Myopathy	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0003199	Decreased muscle mass	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0004303	Abnormal muscle fiber morphology	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0008049	Abnormality of the extraocular muscles	http://purl.obolibrary.org/obo/HP_0030669	Abnormal ocular adnexa morphology		
http://purl.obolibrary.org/obo/HP_0009127	Abnormality of the musculature of the limbs	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0011006	Abnormal morphology of the musculature of the neck	http://purl.obolibrary.org/obo/HP_0025668	Abnormal neck morphology		
http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0003560	Muscular dystrophy	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0100614	Myositis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0008985	Increased intramuscular fat	http://purl.obolibrary.org/obo/HP_0009126	Increased adipose tissue		
http://purl.obolibrary.org/obo/HP_0009131	Abnormality of the musculature of the thorax	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0100748	Muscular edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0030236	Abnormality of muscle size	http://purl.obolibrary.org/obo/HP_0011805	Abnormal skeletal muscle morphology		
http://purl.obolibrary.org/obo/HP_0034370	Abnormal muscle tissue metabolite concentration	http://purl.obolibrary.org/obo/HP_0032243	Abnormal tissue metabolite concentration		
http://purl.obolibrary.org/obo/HP_0040173	Abnormality of the tongue muscle	http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology		
http://purl.obolibrary.org/obo/HP_0430014	Abnormality of musculature of soft palate	http://purl.obolibrary.org/obo/HP_0100736	Abnormal soft palate morphology		
http://purl.obolibrary.org/obo/HP_0430015	Abnormal morphology of musculature of pharynx	http://purl.obolibrary.org/obo/HP_0033151	Abnormal pharynx morphology		
http://purl.obolibrary.org/obo/HP_0004493	Craniofacial hyperostosis	http://purl.obolibrary.org/obo/HP_0004437	Cranial hyperostosis		
http://purl.obolibrary.org/obo/HP_0030791	Abnormal jaw morphology	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0430005	Abnormal ethmoid bone morphology	http://purl.obolibrary.org/obo/HP_0011821	Abnormal facial skeleton morphology		
http://purl.obolibrary.org/obo/HP_0000168	Abnormality of the gingiva	http://purl.obolibrary.org/obo/HP_0011830	Abnormal oral mucosa morphology		
http://purl.obolibrary.org/obo/HP_0010280	Stomatitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0100669	Abnormal pigmentation of the oral mucosa	http://purl.obolibrary.org/obo/HP_0011830	Abnormal oral mucosa morphology		
http://purl.obolibrary.org/obo/HP_0100828	Increased total T cell count	http://purl.obolibrary.org/obo/HP_0011839	Abnormal total T cell count		
http://purl.obolibrary.org/obo/HP_0005403	Decreased total T cell count	http://purl.obolibrary.org/obo/HP_0011839	Abnormal total T cell count		
http://purl.obolibrary.org/obo/HP_0410035	Abnormal T cell activation	http://purl.obolibrary.org/obo/HP_0011840	Abnormal T cell physiology		
http://purl.obolibrary.org/obo/HP_0001367	Abnormal joint morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0002652	Skeletal dysplasia	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0002763	Abnormal cartilage morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0003330	Abnormal bone structure	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0009121	Abnormal axial skeleton morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0011844	Abnormal appendicular skeleton morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0100774	Hyperostosis	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0009115	Aplasia/hypoplasia involving the skeleton	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0100261	Abnormal tendon morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_3000052	Abnormal hyoid bone morphology	http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology		
http://purl.obolibrary.org/obo/HP_0000927	Abnormality of skeletal maturation	http://purl.obolibrary.org/obo/HP_0011843	Abnormal musculoskeletal physiology		
http://purl.obolibrary.org/obo/HP_0002754	Osteomyelitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0009763	Limb pain	http://purl.obolibrary.org/obo/HP_0012531	Pain		
http://purl.obolibrary.org/obo/HP_0010885	Avascular necrosis	http://purl.obolibrary.org/obo/HP_0011843	Abnormal musculoskeletal physiology		
http://purl.obolibrary.org/obo/HP_0002644	Abnormal pelvic girdle bone morphology	http://purl.obolibrary.org/obo/HP_0011844	Abnormal appendicular skeleton morphology		
http://purl.obolibrary.org/obo/HP_0002813	Abnormal limb bone morphology	http://purl.obolibrary.org/obo/HP_0040068	Abnormality of limb bone		
http://purl.obolibrary.org/obo/HP_0011314	Abnormal long bone morphology	http://purl.obolibrary.org/obo/HP_0011844	Abnormal appendicular skeleton morphology		
http://purl.obolibrary.org/obo/HP_0003336	Abnormal enchondral ossification	http://purl.obolibrary.org/obo/HP_0011849	Abnormal bone ossification		
http://purl.obolibrary.org/obo/HP_0004348	Abnormality of bone mineral density	http://purl.obolibrary.org/obo/HP_0011849	Abnormal bone ossification		
http://purl.obolibrary.org/obo/HP_0001894	Thrombocytosis	http://purl.obolibrary.org/obo/HP_0011873	Abnormal platelet count		
http://purl.obolibrary.org/obo/HP_0001873	Thrombocytopenia	http://purl.obolibrary.org/obo/HP_0011873	Abnormal platelet count		
http://purl.obolibrary.org/obo/HP_0001882	Decreased total leukocyte count	http://purl.obolibrary.org/obo/HP_0011893	Abnormal leukocyte count		
http://purl.obolibrary.org/obo/HP_0001974	Increased total leukocyte count	http://purl.obolibrary.org/obo/HP_0011893	Abnormal leukocyte count		
http://purl.obolibrary.org/obo/HP_0012310	Abnormal monocyte count	http://purl.obolibrary.org/obo/HP_0012144	Abnormal monocyte morphology		
http://purl.obolibrary.org/obo/HP_0001878	Hemolytic anemia	http://purl.obolibrary.org/obo/HP_0011895	Anemia due to reduced life span of red cells		
http://purl.obolibrary.org/obo/HP_0000911	Flat glenoid fossa	http://purl.obolibrary.org/obo/HP_0011912	Abnormality of the glenoid fossa		
http://purl.obolibrary.org/obo/HP_0006591	Absent glenoid fossa	http://purl.obolibrary.org/obo/HP_0011912	Abnormality of the glenoid fossa		
http://purl.obolibrary.org/obo/HP_0006633	Glenoid fossa hypoplasia	http://purl.obolibrary.org/obo/HP_0011912	Abnormality of the glenoid fossa		
http://purl.obolibrary.org/obo/HP_0001156	Brachydactyly	http://purl.obolibrary.org/obo/HP_0011927	Short digit		
http://purl.obolibrary.org/obo/HP_0009381	Short finger	http://purl.obolibrary.org/obo/HP_0006265	Aplasia/Hypoplasia of fingers		
http://purl.obolibrary.org/obo/HP_0002090	Pneumonia	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0001875	Decreased total neutrophil count	http://purl.obolibrary.org/obo/HP_0011991	Abnormal total neutrophil count		
http://purl.obolibrary.org/obo/HP_0001992	Organic aciduria	http://purl.obolibrary.org/obo/HP_0012072	Aciduria		
http://purl.obolibrary.org/obo/HP_0003648	Lacticaciduria	http://purl.obolibrary.org/obo/HP_0012072	Aciduria		
http://purl.obolibrary.org/obo/HP_0005232	Pancreatic dysplasia	http://purl.obolibrary.org/obo/HP_0012090	Abnormal pancreas morphology		
http://purl.obolibrary.org/obo/HP_0006278	Ectopic pancreatic tissue	http://purl.obolibrary.org/obo/HP_0012090	Abnormal pancreas morphology		
http://purl.obolibrary.org/obo/HP_0012094	Abnormal pancreas size	http://purl.obolibrary.org/obo/HP_0012090	Abnormal pancreas morphology		
http://purl.obolibrary.org/obo/HP_0001733	Pancreatitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0012092	Abnormality of exocrine pancreas physiology	http://purl.obolibrary.org/obo/HP_0012091	Abnormality of pancreas physiology		
http://purl.obolibrary.org/obo/HP_0003287	Abnormality of mitochondrial metabolism	http://purl.obolibrary.org/obo/HP_0012103	Abnormality of the mitochondrion		
http://purl.obolibrary.org/obo/HP_0008322	Abnormal mitochondrial morphology	http://purl.obolibrary.org/obo/HP_0012103	Abnormality of the mitochondrion		
http://purl.obolibrary.org/obo/HP_0001876	Pancytopenia	http://purl.obolibrary.org/obo/HP_0012145	Abnormality of multiple cell lineages in the bone marrow		
http://purl.obolibrary.org/obo/HP_0011974	Myelofibrosis	http://purl.obolibrary.org/obo/HP_0012145	Abnormality of multiple cell lineages in the bone marrow		
http://purl.obolibrary.org/obo/HP_0000075	Renal duplication	http://purl.obolibrary.org/obo/HP_0005217	Abdominal organ duplication		
http://purl.obolibrary.org/obo/HP_0000105	Enlarged kidney	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0000107	Renal cyst	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0000110	Renal dysplasia	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0000121	Nephrocalcinosis	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0004742	Abnormal renal collecting system morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0008678	Renal hypoplasia/aplasia	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0011035	Abnormal renal cortex morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0012575	Abnormal nephron morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0012585	Renal atrophy	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0100542	Abnormal localization of kidney	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0100957	Abnormal renal medulla morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0010944	Abnormal renal pelvis morphology	http://purl.obolibrary.org/obo/HP_0012210	Abnormal renal morphology		
http://purl.obolibrary.org/obo/HP_0000112	Nephropathy	http://purl.obolibrary.org/obo/HP_0012211	Abnormal renal physiology		
http://purl.obolibrary.org/obo/HP_0000123	Nephritis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0000083	Renal insufficiency	http://purl.obolibrary.org/obo/HP_0012211	Abnormal renal physiology		
http://purl.obolibrary.org/obo/HP_0000790	Hematuria	http://purl.obolibrary.org/obo/HP_0012614	Abnormal urine cytology		
http://purl.obolibrary.org/obo/HP_0011036	Abnormality of renal excretion	http://purl.obolibrary.org/obo/HP_0012211	Abnormal renal physiology		
http://purl.obolibrary.org/obo/HP_0000812	Abnormal internal genitalia	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0001827	Genital tract atresia	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0003249	Genital ulcers	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0010460	Abnormality of the female genitalia	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0010461	Abnormality of the male genitalia	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0012862	Abnormal germ cell morphology	http://purl.obolibrary.org/obo/HP_0012243	Abnormal reproductive system morphology		
http://purl.obolibrary.org/obo/HP_0002087	Abnormality of the upper respiratory tract	http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology		
http://purl.obolibrary.org/obo/HP_0002088	Abnormal lung morphology	http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology		
http://purl.obolibrary.org/obo/HP_0005607	Abnormal tracheobronchial morphology	http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology		
http://purl.obolibrary.org/obo/HP_0012253	Abnormal respiratory epithelium morphology	http://purl.obolibrary.org/obo/HP_0012252	Abnormal respiratory system morphology		
http://purl.obolibrary.org/obo/HP_0000553	Abnormal uvea morphology	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0000589	Coloboma	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0000591	Abnormal sclera morphology	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0000667	Phthisis bulbi	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0004328	Abnormal anterior eye segment morphology	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0004329	Abnormal posterior eye segment morphology	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0008056	Aplasia/Hypoplasia affecting the eye	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0100886	Abnormality of globe location	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0100887	Abnormality of globe size	http://purl.obolibrary.org/obo/HP_0012372	Abnormal eye morphology		
http://purl.obolibrary.org/obo/HP_0000496	Abnormality of eye movement	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0000501	Glaucoma	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0000504	Abnormality of vision	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0000632	Lacrimation abnormality	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0100533	Inflammatory abnormality of the eye	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0000508	Ptosis	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0007686	Abnormal pupillary function	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0034251	Abnormal corneal reflex	http://purl.obolibrary.org/obo/HP_0012373	Abnormal eye physiology		
http://purl.obolibrary.org/obo/HP_0002257	Chronic rhinitis	http://purl.obolibrary.org/obo/HP_0012384	Rhinitis		
http://purl.obolibrary.org/obo/HP_0001836	Camptodactyly of toe	http://purl.obolibrary.org/obo/HP_0005830	Flexion contracture of toe		
http://purl.obolibrary.org/obo/HP_0025732	Abnormal social development	http://purl.obolibrary.org/obo/HP_0012433	Abnormal social behavior		
http://purl.obolibrary.org/obo/HP_0011466	Aplasia/Hypoplasia of the gallbladder	http://purl.obolibrary.org/obo/HP_0012437	Abnormal gallbladder morphology		
http://purl.obolibrary.org/obo/HP_0005609	Gallbladder dysfunction	http://purl.obolibrary.org/obo/HP_0012438	Abnormal gallbladder physiology		
http://purl.obolibrary.org/obo/HP_0011040	Abnormal intrahepatic bile duct morphology	http://purl.obolibrary.org/obo/HP_0012440	Abnormal biliary tract morphology		
http://purl.obolibrary.org/obo/HP_0035013	Abnormal extrahepatic bile duct morphology	http://purl.obolibrary.org/obo/HP_0012440	Abnormal biliary tract morphology		
http://purl.obolibrary.org/obo/HP_0005230	Biliary tract obstruction	http://purl.obolibrary.org/obo/HP_0012440	Abnormal biliary tract morphology		
http://purl.obolibrary.org/obo/HP_0005912	Biliary atresia	http://purl.obolibrary.org/obo/HP_0012440	Abnormal biliary tract morphology		
http://purl.obolibrary.org/obo/HP_0006560	Biliary hyperplasia	http://purl.obolibrary.org/obo/HP_0012440	Abnormal biliary tract morphology		
http://purl.obolibrary.org/obo/HP_0100889	Abnormal ductus choledochus morphology	http://purl.obolibrary.org/obo/HP_0012440	Abnormal biliary tract morphology		
http://purl.obolibrary.org/obo/HP_0030151	Cholangitis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0002118	Abnormal cerebral ventricle morphology	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0002363	Abnormal brainstem morphology	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0002418	Abnormal midbrain morphology	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0100659	Abnormal cerebral vascular morphology	http://purl.obolibrary.org/obo/HP_0025015	Abnormal vascular morphology		
http://purl.obolibrary.org/obo/HP_0011282	Abnormal hindbrain morphology	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0012675	Iron accumulation in brain	http://purl.obolibrary.org/obo/HP_0012443	Abnormal brain morphology		
http://purl.obolibrary.org/obo/HP_0012681	Abnormal pineal morphology	http://purl.obolibrary.org/obo/HP_0012680	Abnormality of the pineal gland		
http://purl.obolibrary.org/obo/HP_0012448	Delayed myelination	http://purl.obolibrary.org/obo/HP_0012447	Abnormal myelination		
http://purl.obolibrary.org/obo/HP_0007922	Hypermyelinated retinal nerve fibers	http://purl.obolibrary.org/obo/HP_0032028	Macular dots		
http://purl.obolibrary.org/obo/HP_0000091	Abnormal renal tubule morphology	http://purl.obolibrary.org/obo/HP_0012575	Abnormal nephron morphology		
http://purl.obolibrary.org/obo/HP_0005563	Decreased numbers of nephrons	http://purl.obolibrary.org/obo/HP_0012575	Abnormal nephron morphology		
http://purl.obolibrary.org/obo/HP_0000103	Polyuria	http://purl.obolibrary.org/obo/HP_0012590	Abnormal urine output		
http://purl.obolibrary.org/obo/HP_0011037	Decreased urine output	http://purl.obolibrary.org/obo/HP_0012590	Abnormal urine output		
http://purl.obolibrary.org/obo/HP_0011280	Abnormality of urine calcium concentration	http://purl.obolibrary.org/obo/HP_0012591	Abnormal urinary electrolyte concentration		
http://purl.obolibrary.org/obo/HP_0012598	Abnormal urine potassium concentration	http://purl.obolibrary.org/obo/HP_0012591	Abnormal urinary electrolyte concentration		
http://purl.obolibrary.org/obo/HP_0012599	Abnormal urine phosphate concentration	http://purl.obolibrary.org/obo/HP_0012591	Abnormal urinary electrolyte concentration		
http://purl.obolibrary.org/obo/HP_0012600	Abnormal urine chloride concentration	http://purl.obolibrary.org/obo/HP_0012591	Abnormal urinary electrolyte concentration		
http://purl.obolibrary.org/obo/HP_0012603	Abnormal urine sodium concentration	http://purl.obolibrary.org/obo/HP_0012591	Abnormal urinary electrolyte concentration		
http://purl.obolibrary.org/obo/HP_0012607	Abnormal urine magnesium concentration	http://purl.obolibrary.org/obo/HP_0012591	Abnormal urinary electrolyte concentration		
http://purl.obolibrary.org/obo/HP_0003081	Increased urinary potassium	http://purl.obolibrary.org/obo/HP_0012598	Abnormal urine potassium concentration		
http://purl.obolibrary.org/obo/HP_0012364	Decreased urinary potassium	http://purl.obolibrary.org/obo/HP_0012598	Abnormal urine potassium concentration		
http://purl.obolibrary.org/obo/HP_0003109	Hyperphosphaturia	http://purl.obolibrary.org/obo/HP_0012599	Abnormal urine phosphate concentration		
http://purl.obolibrary.org/obo/HP_0012365	Hypophosphaturia	http://purl.obolibrary.org/obo/HP_0012599	Abnormal urine phosphate concentration		
http://purl.obolibrary.org/obo/HP_0002914	Hyperchloriduria	http://purl.obolibrary.org/obo/HP_0012600	Abnormal urine chloride concentration		
http://purl.obolibrary.org/obo/HP_0012601	Hypochloriduria	http://purl.obolibrary.org/obo/HP_0012600	Abnormal urine chloride concentration		
http://purl.obolibrary.org/obo/HP_0003359	Decreased urinary sulfate	http://purl.obolibrary.org/obo/HP_0012612	Abnormal urinary sulfate concentration		
http://purl.obolibrary.org/obo/HP_0012613	Increased urinary sulfate	http://purl.obolibrary.org/obo/HP_0012612	Abnormal urinary sulfate concentration		
http://purl.obolibrary.org/obo/HP_0012085	Pyuria	http://purl.obolibrary.org/obo/HP_0012614	Abnormal urine cytology		
http://purl.obolibrary.org/obo/HP_0000223	Abnormality of taste sensation	http://purl.obolibrary.org/obo/HP_0030810	Abnormal tongue physiology		
http://purl.obolibrary.org/obo/HP_0001298	Encephalopathy	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0002315	Headache	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0011442	Abnormal central motor function	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0100022	Abnormality of movement	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0001250	Seizure	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0002015	Dysphagia	http://purl.obolibrary.org/obo/HP_0025270	Abnormal esophagus physiology		
http://purl.obolibrary.org/obo/HP_0003474	Somatic sensory dysfunction	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0011730	Abnormal central sensory function	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0012535	Abnormal synaptic transmission	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0012688	Abnormality of pineal physiology	http://purl.obolibrary.org/obo/HP_0012680	Abnormality of the pineal gland		
http://purl.obolibrary.org/obo/HP_0012759	Neurodevelopmental abnormality	http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology		
http://purl.obolibrary.org/obo/HP_0000759	Abnormal peripheral nervous system morphology	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0002011	Morphological central nervous system abnormality	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0012447	Abnormal myelination	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0100705	Abnormal glial cell morphology	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0012757	Abnormal neuron morphology	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0410014	Abnormal ganglion morphology	http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology		
http://purl.obolibrary.org/obo/HP_0002607	Bowel incontinence	http://purl.obolibrary.org/obo/HP_0031064	Impaired continence		
http://purl.obolibrary.org/obo/HP_0012704	Widened subarachnoid space	http://purl.obolibrary.org/obo/HP_0012703	Abnormal subarachnoid space morphology		
http://purl.obolibrary.org/obo/HP_0002031	Abnormal esophagus morphology	http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology		
http://purl.obolibrary.org/obo/HP_0002242	Abnormal intestine morphology	http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology		
http://purl.obolibrary.org/obo/HP_0002577	Abnormal stomach morphology	http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology		
http://purl.obolibrary.org/obo/HP_0002589	Gastrointestinal atresia	http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology		
http://purl.obolibrary.org/obo/HP_0004296	Abnormal gastrointestinal vascular morphology	http://purl.obolibrary.org/obo/HP_0025015	Abnormal vascular morphology		
http://purl.obolibrary.org/obo/HP_0012732	Anorectal anomaly	http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology		
http://purl.obolibrary.org/obo/HP_0011140	Gastrointestinal duplication	http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology		
http://purl.obolibrary.org/obo/HP_0002239	Gastrointestinal hemorrhage	http://purl.obolibrary.org/obo/HP_0011029	Internal hemorrhage		
http://purl.obolibrary.org/obo/HP_0004796	Gastrointestinal obstruction	http://purl.obolibrary.org/obo/HP_0012719	Functional abnormality of the gastrointestinal tract		
http://purl.obolibrary.org/obo/HP_0030895	Abnormal gastrointestinal motility	http://purl.obolibrary.org/obo/HP_0012719	Functional abnormality of the gastrointestinal tract		
http://purl.obolibrary.org/obo/HP_0000826	Precocious puberty	http://purl.obolibrary.org/obo/HP_0100000	Early onset of sexual maturation		
http://purl.obolibrary.org/obo/HP_0001288	Gait disturbance	http://purl.obolibrary.org/obo/HP_0100022	Abnormality of movement		
http://purl.obolibrary.org/obo/HP_0002374	Diminished movement	http://purl.obolibrary.org/obo/HP_0100022	Abnormality of movement		
http://purl.obolibrary.org/obo/HP_0002209	Sparse scalp hair	http://purl.obolibrary.org/obo/HP_0008070	Sparse hair		
http://purl.obolibrary.org/obo/HP_0002293	Alopecia of scalp	http://purl.obolibrary.org/obo/HP_0001596	Alopecia		
http://purl.obolibrary.org/obo/HP_0009553	Abnormality of the hairline	http://purl.obolibrary.org/obo/HP_0011361	Congenital abnormal hair pattern		
http://purl.obolibrary.org/obo/HP_0002215	Sparse axillary hair	http://purl.obolibrary.org/obo/HP_0008070	Sparse hair		
http://purl.obolibrary.org/obo/HP_0010179	Toe symphalangism	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0100265	Synostosis of metacarpals/metatarsals	http://purl.obolibrary.org/obo/HP_0100240	Synostosis of joints		
http://purl.obolibrary.org/obo/HP_0005473	Fusion of middle ear ossicles	http://purl.obolibrary.org/obo/HP_0004452	Abnormality of the middle ear ossicles		
http://purl.obolibrary.org/obo/HP_0009138	Synostosis involving bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0100262	Synostosis involving digits	http://purl.obolibrary.org/obo/HP_0100240	Synostosis of joints		
http://purl.obolibrary.org/obo/HP_0100266	Synostosis of carpals/tarsals	http://purl.obolibrary.org/obo/HP_0100240	Synostosis of joints		
http://purl.obolibrary.org/obo/HP_0100306	Muscle fiber hyaline bodies	http://purl.obolibrary.org/obo/HP_0100303	Muscle fiber cytoplasmatic inclusion bodies		
http://purl.obolibrary.org/obo/HP_0002185	Neurofibrillary tangles	http://purl.obolibrary.org/obo/HP_0100314	Cerebral inclusion bodies		
http://purl.obolibrary.org/obo/HP_0012393	Allergy	http://purl.obolibrary.org/obo/HP_0100326	Immunologic hypersensitivity		
http://purl.obolibrary.org/obo/HP_0100845	Anaphylactic shock	http://purl.obolibrary.org/obo/HP_0100326	Immunologic hypersensitivity		
http://purl.obolibrary.org/obo/HP_0001239	Wrist flexion contracture	http://purl.obolibrary.org/obo/HP_0025798	Abnormal wrist morphology		
http://purl.obolibrary.org/obo/HP_0009185	Contracture of the proximal interphalangeal joint of the 5th finger	http://purl.obolibrary.org/obo/HP_0009183	Joint contracture of the 5th finger		
http://purl.obolibrary.org/obo/HP_0009276	Contracture of the proximal interphalangeal joint of the 4th finger	http://purl.obolibrary.org/obo/HP_0009274	Joint contracture of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009319	Joint contracture of the 3rd finger		
http://purl.obolibrary.org/obo/HP_0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009537	Flexion contracture of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0002815	Abnormality of the knee	http://purl.obolibrary.org/obo/HP_0100491	Abnormality of lower limb joint		
http://purl.obolibrary.org/obo/HP_0002148	Hypophosphatemia	http://purl.obolibrary.org/obo/HP_0100529	Abnormal blood phosphate concentration		
http://purl.obolibrary.org/obo/HP_0002905	Hyperphosphatemia	http://purl.obolibrary.org/obo/HP_0100529	Abnormal blood phosphate concentration		
http://purl.obolibrary.org/obo/HP_0000086	Ectopic kidney	http://purl.obolibrary.org/obo/HP_0100542	Abnormal localization of kidney		
http://purl.obolibrary.org/obo/HP_0001268	Mental deterioration	http://purl.obolibrary.org/obo/HP_0100543	Cognitive impairment		
http://purl.obolibrary.org/obo/HP_0002354	Memory impairment	http://purl.obolibrary.org/obo/HP_0100543	Cognitive impairment		
http://purl.obolibrary.org/obo/HP_0002060	Abnormal cerebral morphology	http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology		
http://purl.obolibrary.org/obo/HP_0010662	Abnormal diencephalon morphology	http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology		
http://purl.obolibrary.org/obo/HP_0020128	Aplasia of the olfactory tract	http://purl.obolibrary.org/obo/HP_0100547	Abnormal forebrain morphology		
http://purl.obolibrary.org/obo/HP_0001528	Hemihypertrophy	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0012421	Congenital absence of foreskin	http://purl.obolibrary.org/obo/HP_0100587	Abnormal preputium morphology		
http://purl.obolibrary.org/obo/HP_0006646	Costal cartilage calcification	http://purl.obolibrary.org/obo/HP_0012306	Abnormal rib ossification		
http://purl.obolibrary.org/obo/HP_0001552	Barrel-shaped chest	http://purl.obolibrary.org/obo/HP_0100625	Enlarged thorax		
http://purl.obolibrary.org/obo/HP_0000047	Hypospadias	http://purl.obolibrary.org/obo/HP_0100627	Displacement of the urethral meatus		
http://purl.obolibrary.org/obo/HP_0000802	Impotence	http://purl.obolibrary.org/obo/HP_0100639	Erectile dysfunction		
http://purl.obolibrary.org/obo/HP_0200023	Priapism	http://purl.obolibrary.org/obo/HP_0100639	Erectile dysfunction		
http://purl.obolibrary.org/obo/HP_0001297	Stroke	http://purl.obolibrary.org/obo/HP_0100659	Abnormal cerebral vascular morphology		
http://purl.obolibrary.org/obo/HP_0012480	Abnormal cerebral vein morphology	http://purl.obolibrary.org/obo/HP_0100659	Abnormal cerebral vascular morphology		
http://purl.obolibrary.org/obo/HP_0007720	Flat cornea	http://purl.obolibrary.org/obo/HP_0100691	Abnormality of the curvature of the cornea		
http://purl.obolibrary.org/obo/HP_0100707	Abnormal astrocyte morphology	http://purl.obolibrary.org/obo/HP_0100705	Abnormal glial cell morphology		
http://purl.obolibrary.org/obo/HP_0000172	Abnormal uvula morphology	http://purl.obolibrary.org/obo/HP_0100736	Abnormal soft palate morphology		
http://purl.obolibrary.org/obo/HP_0010290	Short hard palate	http://purl.obolibrary.org/obo/HP_0100737	Abnormal hard palate morphology		
http://purl.obolibrary.org/obo/HP_0002591	Polyphagia	http://purl.obolibrary.org/obo/HP_0100738	Abnormal eating behavior		
http://purl.obolibrary.org/obo/HP_0000217	Xerostomia	http://purl.obolibrary.org/obo/HP_0100755	Abnormality of salivation		
http://purl.obolibrary.org/obo/HP_0002733	Abnormal lymph node morphology	http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system		
http://purl.obolibrary.org/obo/HP_0100766	Abnormal lymphatic vessel morphology	http://purl.obolibrary.org/obo/HP_0025015	Abnormal vascular morphology		
http://purl.obolibrary.org/obo/HP_0100765	Abnormality of the tonsils	http://purl.obolibrary.org/obo/HP_0100763	Abnormality of the lymphatic system		
http://purl.obolibrary.org/obo/HP_0003759	Hypoplasia of lymphatic vessels	http://purl.obolibrary.org/obo/HP_0100766	Abnormal lymphatic vessel morphology		
http://purl.obolibrary.org/obo/HP_0031842	Lymphangiectasis	http://purl.obolibrary.org/obo/HP_0100766	Abnormal lymphatic vessel morphology		
http://purl.obolibrary.org/obo/HP_0045006	Aplasia of lymphatic vessels	http://purl.obolibrary.org/obo/HP_0100766	Abnormal lymphatic vessel morphology		
http://purl.obolibrary.org/obo/HP_0100823	Genital hernia	http://purl.obolibrary.org/obo/HP_0100790	Hernia		
http://purl.obolibrary.org/obo/HP_0002594	Pancreatic hypoplasia	http://purl.obolibrary.org/obo/HP_0100800	Aplasia/Hypoplasia of the pancreas		
http://purl.obolibrary.org/obo/HP_0100801	Pancreatic aplasia	http://purl.obolibrary.org/obo/HP_0100800	Aplasia/Hypoplasia of the pancreas		
http://purl.obolibrary.org/obo/HP_0000139	Uterine prolapse	http://purl.obolibrary.org/obo/HP_0031105	Abnormal uterus morphology		
http://purl.obolibrary.org/obo/HP_0045075	Sparse eyebrow	http://purl.obolibrary.org/obo/HP_0100840	Aplasia/Hypoplasia of the eyebrow		
http://purl.obolibrary.org/obo/HP_0003634	Amyoplasia	http://purl.obolibrary.org/obo/HP_0100854	Aplasia of the musculature		
http://purl.obolibrary.org/obo/HP_0009783	Biceps aplasia	http://purl.obolibrary.org/obo/HP_0009782	Aplasia/Hypoplasia of the biceps		
http://purl.obolibrary.org/obo/HP_0009785	Triceps aplasia	http://purl.obolibrary.org/obo/HP_0009784	Aplasia/Hypoplasia of the triceps		
http://purl.obolibrary.org/obo/HP_0001169	Broad palm	http://purl.obolibrary.org/obo/HP_0100871	Abnormal palm morphology		
http://purl.obolibrary.org/obo/HP_0004279	Short palm	http://purl.obolibrary.org/obo/HP_0005927	Aplasia/hypoplasia involving bones of the hand		
http://purl.obolibrary.org/obo/HP_0004283	Narrow palm	http://purl.obolibrary.org/obo/HP_0100871	Abnormal palm morphology		
http://purl.obolibrary.org/obo/HP_0011302	Long palm	http://purl.obolibrary.org/obo/HP_0100871	Abnormal palm morphology		
http://purl.obolibrary.org/obo/HP_0007556	Plantar hyperkeratosis	http://purl.obolibrary.org/obo/HP_0000962	Hyperkeratosis		
http://purl.obolibrary.org/obo/HP_0007403	Hypertrophy of skin of soles	http://purl.obolibrary.org/obo/HP_0100872	Abnormality of the plantar skin of foot		
http://purl.obolibrary.org/obo/HP_0000316	Hypertelorism	http://purl.obolibrary.org/obo/HP_0100886	Abnormality of globe location		
http://purl.obolibrary.org/obo/HP_0000520	Proptosis	http://purl.obolibrary.org/obo/HP_0100886	Abnormality of globe location		
http://purl.obolibrary.org/obo/HP_0000601	Hypotelorism	http://purl.obolibrary.org/obo/HP_0100886	Abnormality of globe location		
http://purl.obolibrary.org/obo/HP_0001090	Abnormally large globe	http://purl.obolibrary.org/obo/HP_0100887	Abnormality of globe size		
http://purl.obolibrary.org/obo/HP_0000090	Nephronophthisis	http://purl.obolibrary.org/obo/HP_0100957	Abnormal renal medulla morphology		
http://purl.obolibrary.org/obo/HP_0001482	Subcutaneous nodule	http://purl.obolibrary.org/obo/HP_0200036	Skin nodule		
http://purl.obolibrary.org/obo/HP_0000653	Sparse eyelashes	http://purl.obolibrary.org/obo/HP_0008070	Sparse hair		
http://purl.obolibrary.org/obo/NCBITaxon_2842242	Ribozyviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/NCBITaxon_2731341	Duplodnaviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/NCBITaxon_2731342	Monodnaviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/NCBITaxon_2732004	Varidnaviria	http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses		
http://purl.obolibrary.org/obo/NCBITaxon_2955291	Alphainfluenzavirus influenzae	http://purl.obolibrary.org/obo/NCBITaxon_197911	Alphainfluenzavirus		
http://purl.obolibrary.org/obo/NCBITaxon_6032	Apansporoblastina	http://purl.obolibrary.org/obo/NCBITaxon_6029	Microsporidia		
http://purl.obolibrary.org/obo/NCBITaxon_44534	Cellia	http://purl.obolibrary.org/obo/NCBITaxon_7164	Anopheles <genus>		
http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair	http://purl.obolibrary.org/obo/UBERON_0000021	cutaneous appendage		
http://purl.obolibrary.org/obo/UBERON_0002074	hair shaft	http://purl.obolibrary.org/obo/UBERON_0000021	cutaneous appendage		
http://purl.obolibrary.org/obo/UBERON_0008816	embryonic head	http://purl.obolibrary.org/obo/UBERON_0000033	head		
http://purl.obolibrary.org/obo/UBERON_6001730	insect larval head	http://purl.obolibrary.org/obo/UBERON_0000033	head		
http://purl.obolibrary.org/obo/UBERON_0001333	male urethra	http://purl.obolibrary.org/obo/UBERON_0000057	urethra		
http://purl.obolibrary.org/obo/UBERON_0001334	female urethra	http://purl.obolibrary.org/obo/UBERON_0000057	urethra		
http://purl.obolibrary.org/obo/UBERON_0013228	sweat gland of eyelid	http://purl.obolibrary.org/obo/UBERON_0013229	eyelid gland		
http://purl.obolibrary.org/obo/UBERON_0018232	axillary sweat gland	http://purl.obolibrary.org/obo/UBERON_0000382	apocrine sweat gland		
http://purl.obolibrary.org/obo/UBERON_0002361	pia mater	http://purl.obolibrary.org/obo/UBERON_0000391	leptomeninx		
http://purl.obolibrary.org/obo/UBERON_0002362	arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0000391	leptomeninx		
http://purl.obolibrary.org/obo/UBERON_0014391	palmar/plantar sweat gland	http://purl.obolibrary.org/obo/UBERON_0000423	eccrine sweat gland		
http://purl.obolibrary.org/obo/UBERON_0004533	left testis	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0004534	right testis	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002133	atrioventricular valve	http://purl.obolibrary.org/obo/UBERON_0000946	cardiac valve		
http://purl.obolibrary.org/obo/UBERON_0005623	semi-lunar valve	http://purl.obolibrary.org/obo/UBERON_0000946	cardiac valve		
http://purl.obolibrary.org/obo/UBERON_0005599	common dorsal aorta	http://purl.obolibrary.org/obo/UBERON_0003513	trunk blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005613	left dorsal aorta	http://purl.obolibrary.org/obo/UBERON_0003513	trunk blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005622	right dorsal aorta	http://purl.obolibrary.org/obo/UBERON_0003513	trunk blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005805	dorsal aorta	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000473	testis	http://purl.obolibrary.org/obo/UBERON_0003135	male reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0000992	ovary	http://purl.obolibrary.org/obo/UBERON_0003134	female reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0002537	hermaphrodite gonad	http://purl.obolibrary.org/obo/UBERON_0000991	gonad		
http://purl.obolibrary.org/obo/UBERON_0009117	indifferent gonad	http://purl.obolibrary.org/obo/UBERON_0000991	gonad		
http://purl.obolibrary.org/obo/UBERON_0009200	limb epidermis	http://purl.obolibrary.org/obo/UBERON_3000981	limb external integument structure		
http://purl.obolibrary.org/obo/UBERON_0001702	eyelash	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0013699	strand of axillary hair	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0015148	tail hair	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0015149	ventral hair	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0015150	dorsal hair	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0016446	hair of head	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0016447	hair of trunk	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0037458	hair of neck	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0037459	hair of limb	http://purl.obolibrary.org/obo/UBERON_0001037	strand of hair		
http://purl.obolibrary.org/obo/UBERON_0002033	arrector muscle of hair	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0002112	smooth muscle of esophagus	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0003386	smooth muscle of eye	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004219	urethra smooth muscle layer	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004223	vagina smooth muscle	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004225	respiratory system smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004226	gastrointestinal system smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004227	kidney pelvis smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004228	urinary bladder smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004231	anal region smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004232	lymphatic vessel smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004235	mammary gland smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004237	blood vessel smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004238	spleen smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004240	gallbladder smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004243	prostate gland smooth muscle	http://purl.obolibrary.org/obo/UBERON_0008715	muscle tissue of prostate		
http://purl.obolibrary.org/obo/UBERON_0004245	oviduct smooth muscle	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004246	outflow tract smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004695	arterial system smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004834	hepatic duct smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004835	epididymis smooth muscle	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0005109	metanephric smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0005321	mesonephric smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0008331	clitoral smooth muscle	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0009919	ureter smooth muscle	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0012615	umbilical smooth muscle	http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0015717	smooth muscle tissue layer of ejaculatory duct	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0015783	smooth muscle layer in fatty layer of subcutaneous tissue	http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0005249	metanephric renal pelvis	http://purl.obolibrary.org/obo/UBERON_0001224	renal pelvis		
http://purl.obolibrary.org/obo/UBERON_0018115	left renal pelvis	http://purl.obolibrary.org/obo/UBERON_0001224	renal pelvis		
http://purl.obolibrary.org/obo/UBERON_0018116	right renal pelvis	http://purl.obolibrary.org/obo/UBERON_0001224	renal pelvis		
http://purl.obolibrary.org/obo/UBERON_0004204	outer medullary collecting duct	http://purl.obolibrary.org/obo/UBERON_0001232	collecting duct of renal tubule		
http://purl.obolibrary.org/obo/UBERON_0004205	inner medullary collecting duct	http://purl.obolibrary.org/obo/UBERON_0001232	collecting duct of renal tubule		
http://purl.obolibrary.org/obo/UBERON_0004737	metanephric collecting duct	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005319	mesonephric collecting duct	http://purl.obolibrary.org/obo/UBERON_0001232	collecting duct of renal tubule		
http://purl.obolibrary.org/obo/UBERON_0001604	levator palpebrae superioris	http://purl.obolibrary.org/obo/UBERON_0001601	extra-ocular muscle		
http://purl.obolibrary.org/obo/UBERON_0006531	oculomotor muscle	http://purl.obolibrary.org/obo/UBERON_0001601	extra-ocular muscle		
http://purl.obolibrary.org/obo/UBERON_0002016	pulmonary vein	http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart		
http://purl.obolibrary.org/obo/UBERON_0036300	tributary of central retinal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001361	femoral vein	http://purl.obolibrary.org/obo/UBERON_0003516	hindlimb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005610	iliac vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0035552	deep vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0000985	axillary vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001140	renal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001144	testicular vein	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001145	ovarian vein	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001146	suprarenal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001319	vaginal vein	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001544	popliteal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001549	dorsal metatarsal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001550	medial marginal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001587	subclavian vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001591	thymic vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001592	bronchial vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0001663	cerebral vein	http://purl.obolibrary.org/obo/UBERON_0003499	brain blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001668	cerebellar vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0002017	portal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0002089	thoracodorsal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0002460	vesical vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0003475	ureteric vein	http://purl.obolibrary.org/obo/UBERON_0003520	pelvis blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003476	respiratory system venous blood vessel	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0003479	thoracic cavity vein	http://purl.obolibrary.org/obo/UBERON_0003519	thoracic cavity blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003480	vein of clitoris	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0003481	tail vein	http://purl.obolibrary.org/obo/UBERON_0003524	tail blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003711	brachiocephalic vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0003713	splenic vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0003848	gonadal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0004711	jugular vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0005194	thoracic vein	http://purl.obolibrary.org/obo/UBERON_0003834	thoracic segment blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005195	deferent duct vein	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0005617	mesenteric vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0006356	epigastric vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0006686	spinal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0008783	dorsal venous arch	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0009029	pudendal vein	http://purl.obolibrary.org/obo/UBERON_0003520	pelvis blood vessel		
http://purl.obolibrary.org/obo/UBERON_0009887	interlobar vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0010370	tibial vein	http://purl.obolibrary.org/obo/UBERON_0003503	leg blood vessel		
http://purl.obolibrary.org/obo/UBERON_0012193	phrenic vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0013126	vein of abdomen	http://purl.obolibrary.org/obo/UBERON_0003497	abdomen blood vessel		
http://purl.obolibrary.org/obo/UBERON_0013136	vein of lip	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0013140	systemic vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0018246	thyroid vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0018251	meningeal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0018256	lacrimal vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0035550	superficial vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_8410033	lymph node vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0039377	urethral vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0036268	pelvic vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0039228	sigmoid vein	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_8410044	vein of appendix	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0036074	vein of vestibular aqueduct	http://purl.obolibrary.org/obo/UBERON_0001638	vein		
http://purl.obolibrary.org/obo/UBERON_0006616	right external ear	http://purl.obolibrary.org/obo/UBERON_0001691	external ear		
http://purl.obolibrary.org/obo/UBERON_0006617	left external ear	http://purl.obolibrary.org/obo/UBERON_0001691	external ear		
http://purl.obolibrary.org/obo/UBERON_0010223	left pupil	http://purl.obolibrary.org/obo/UBERON_0001771	pupil		
http://purl.obolibrary.org/obo/UBERON_0010224	right pupil	http://purl.obolibrary.org/obo/UBERON_0001771	pupil		
http://purl.obolibrary.org/obo/UBERON_0001579	olfactory nerve	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001643	oculomotor nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001645	trigeminal nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001647	facial nerve	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0001649	glossopharyngeal nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001644	trochlear nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001646	abducens nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001648	vestibulocochlear nerve	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001650	hypoglossal nerve	http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0001759	vagus nerve	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0003485	vagina sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0003487	skin sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0001821	sebaceous gland		
http://purl.obolibrary.org/obo/UBERON_0015251	modified sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0001821	sebaceous gland		
http://purl.obolibrary.org/obo/UBERON_0011601	gingiva of upper jaw	http://purl.obolibrary.org/obo/UBERON_0001828	gingiva		
http://purl.obolibrary.org/obo/UBERON_0011602	gingiva of lower jaw	http://purl.obolibrary.org/obo/UBERON_0001828	gingiva		
http://purl.obolibrary.org/obo/UBERON_0002812	left cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0001869	cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0002813	right cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0001869	cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0002808	left temporal lobe	http://purl.obolibrary.org/obo/UBERON_0001871	temporal lobe		
http://purl.obolibrary.org/obo/UBERON_0002809	right temporal lobe	http://purl.obolibrary.org/obo/UBERON_0001871	temporal lobe		
http://purl.obolibrary.org/obo/UBERON_0002288	choroid plexus of third ventricle	http://purl.obolibrary.org/obo/UBERON_0001886	choroid plexus		
http://purl.obolibrary.org/obo/UBERON_0002290	choroid plexus of fourth ventricle	http://purl.obolibrary.org/obo/UBERON_0006694	cerebellum vasculature		
http://purl.obolibrary.org/obo/UBERON_0002307	choroid plexus of lateral ventricle	http://purl.obolibrary.org/obo/UBERON_0001886	choroid plexus		
http://purl.obolibrary.org/obo/UBERON_0007299	choroid plexus of tectal ventricle	http://purl.obolibrary.org/obo/UBERON_0001886	choroid plexus		
http://purl.obolibrary.org/obo/UBERON_0009030	left pulmonary vein	http://purl.obolibrary.org/obo/UBERON_0002016	pulmonary vein		
http://purl.obolibrary.org/obo/UBERON_0009032	right pulmonary vein	http://purl.obolibrary.org/obo/UBERON_0002016	pulmonary vein		
http://purl.obolibrary.org/obo/UBERON_0002806	left occipital lobe	http://purl.obolibrary.org/obo/UBERON_0002021	occipital lobe		
http://purl.obolibrary.org/obo/UBERON_0002807	right occipital lobe	http://purl.obolibrary.org/obo/UBERON_0002021	occipital lobe		
http://purl.obolibrary.org/obo/UBERON_0013772	left nipple	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0013773	right nipple	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002177	right main bronchus	http://purl.obolibrary.org/obo/UBERON_0002182	main bronchus		
http://purl.obolibrary.org/obo/UBERON_0002178	left main bronchus	http://purl.obolibrary.org/obo/UBERON_0002182	main bronchus		
http://purl.obolibrary.org/obo/UBERON_0013161	left lateral ventricle	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0013162	right lateral ventricle	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001082	epicardium of ventricle	http://purl.obolibrary.org/obo/UBERON_0002348	epicardium		
http://purl.obolibrary.org/obo/UBERON_0001083	myocardium of ventricle	http://purl.obolibrary.org/obo/UBERON_0002349	myocardium		
http://purl.obolibrary.org/obo/UBERON_0002302	myocardium of atrium	http://purl.obolibrary.org/obo/UBERON_0002349	myocardium		
http://purl.obolibrary.org/obo/UBERON_0004265	outflow tract myocardium	http://purl.obolibrary.org/obo/UBERON_0002349	myocardium		
http://purl.obolibrary.org/obo/UBERON_0005248	bulbus cordis myocardium	http://purl.obolibrary.org/obo/UBERON_0002349	myocardium		
http://purl.obolibrary.org/obo/UBERON_0001233	right adrenal gland	http://purl.obolibrary.org/obo/UBERON_0002369	adrenal gland		
http://purl.obolibrary.org/obo/UBERON_0001234	left adrenal gland	http://purl.obolibrary.org/obo/UBERON_0002369	adrenal gland		
http://purl.obolibrary.org/obo/UBERON_0000332	yellow bone marrow	http://purl.obolibrary.org/obo/UBERON_0002371	bone marrow		
http://purl.obolibrary.org/obo/UBERON_0000361	red bone marrow	http://purl.obolibrary.org/obo/UBERON_0002371	bone marrow		
http://purl.obolibrary.org/obo/UBERON_0001135	smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0002036	striated muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004667	interventricular septum muscular part	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0008715	muscle tissue of prostate	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0016886	muscle tissue of terminal part of digestive tract	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_8600004	visceral muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0036274	tonsillar pillar	http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0000976	humerus	http://purl.obolibrary.org/obo/UBERON_0015053	humerus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0000979	tibia	http://purl.obolibrary.org/obo/UBERON_0015004	tibia endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001105	clavicle bone	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001446	fibula	http://purl.obolibrary.org/obo/UBERON_0015013	fibula endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003606	limb long bone	http://purl.obolibrary.org/obo/UBERON_0002428	limb bone		
http://purl.obolibrary.org/obo/UBERON_0003821	metapodium bone	http://purl.obolibrary.org/obo/UBERON_0012357	digitopodium bone		
http://purl.obolibrary.org/obo/UBERON_0002093	spinal dura mater	http://purl.obolibrary.org/obo/UBERON_0002363	dura mater		
http://purl.obolibrary.org/obo/UBERON_0003555	spinal cord pia mater	http://purl.obolibrary.org/obo/UBERON_0002361	pia mater		
http://purl.obolibrary.org/obo/UBERON_0003560	spinal cord arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0002362	arachnoid mater		
http://purl.obolibrary.org/obo/UBERON_0001246	interlobular bile duct	http://purl.obolibrary.org/obo/UBERON_0003704	intrahepatic bile duct		
http://purl.obolibrary.org/obo/UBERON_0001282	intralobular bile duct	http://purl.obolibrary.org/obo/UBERON_0014716	interlobular duct		
http://purl.obolibrary.org/obo/UBERON_0002285	telencephalic ventricle	http://purl.obolibrary.org/obo/UBERON_0004086	brain ventricle		
http://purl.obolibrary.org/obo/UBERON_0002286	third ventricle	http://purl.obolibrary.org/obo/UBERON_0004086	brain ventricle		
http://purl.obolibrary.org/obo/UBERON_0002289	midbrain cerebral aqueduct	http://purl.obolibrary.org/obo/UBERON_0004086	brain ventricle		
http://purl.obolibrary.org/obo/UBERON_0002422	fourth ventricle	http://purl.obolibrary.org/obo/UBERON_0004086	brain ventricle		
http://purl.obolibrary.org/obo/UBERON_0003118	pharyngeal arch artery 1	http://purl.obolibrary.org/obo/UBERON_0004363	pharyngeal arch artery		
http://purl.obolibrary.org/obo/UBERON_0003119	pharyngeal arch artery 2	http://purl.obolibrary.org/obo/UBERON_0004363	pharyngeal arch artery		
http://purl.obolibrary.org/obo/UBERON_0003120	pharyngeal arch artery 3	http://purl.obolibrary.org/obo/UBERON_0004363	pharyngeal arch artery		
http://purl.obolibrary.org/obo/UBERON_0003121	pharyngeal arch artery 4	http://purl.obolibrary.org/obo/UBERON_0004363	pharyngeal arch artery		
http://purl.obolibrary.org/obo/UBERON_0003122	pharyngeal arch artery 5	http://purl.obolibrary.org/obo/UBERON_0004363	pharyngeal arch artery		
http://purl.obolibrary.org/obo/UBERON_0003123	pharyngeal arch artery 6	http://purl.obolibrary.org/obo/UBERON_0004363	pharyngeal arch artery		
http://purl.obolibrary.org/obo/UBERON_0004887	left lung hilus	http://purl.obolibrary.org/obo/UBERON_0004886	lung hilus		
http://purl.obolibrary.org/obo/UBERON_0004888	right lung hilus	http://purl.obolibrary.org/obo/UBERON_0004886	lung hilus		
http://purl.obolibrary.org/obo/UBERON_0001070	external carotid artery	http://purl.obolibrary.org/obo/UBERON_0005396	carotid artery segment		
http://purl.obolibrary.org/obo/UBERON_0001532	internal carotid artery	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003625	manual digit 5	http://purl.obolibrary.org/obo/UBERON_0019231	manual digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0003635	pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0019241	pedal digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0001064	ventral pancreatic duct	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0002018	synovial membrane of synovial joint	http://purl.obolibrary.org/obo/UBERON_0007616	layer of synovial tissue		
http://purl.obolibrary.org/obo/UBERON_0011233	synovial membrane of synovial tendon sheath	http://purl.obolibrary.org/obo/UBERON_0007616	layer of synovial tissue		
http://purl.obolibrary.org/obo/UBERON_0004571	systemic arterial system	http://purl.obolibrary.org/obo/UBERON_0007798	vascular system		
http://purl.obolibrary.org/obo/UBERON_0004572	arterial system	http://purl.obolibrary.org/obo/UBERON_0007798	vascular system		
http://purl.obolibrary.org/obo/UBERON_0004582	venous system	http://purl.obolibrary.org/obo/UBERON_0007798	vascular system		
http://purl.obolibrary.org/obo/UBERON_0008886	pulmonary vascular system	http://purl.obolibrary.org/obo/UBERON_0007798	vascular system		
http://purl.obolibrary.org/obo/UBERON_0014701	extraembryonic vascular system	http://purl.obolibrary.org/obo/UBERON_0007798	vascular system		
http://purl.obolibrary.org/obo/UBERON_0012177	skin apocrine gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0001255	urinary bladder	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002110	gallbladder	http://purl.obolibrary.org/obo/UBERON_0017672	abdominal viscera		
http://purl.obolibrary.org/obo/BFO_0000002	continuant	http://purl.obolibrary.org/obo/BFO_0000001	entity		
http://purl.obolibrary.org/obo/BFO_0000003	occurrent	http://purl.obolibrary.org/obo/BFO_0000001	entity		
http://purl.obolibrary.org/obo/BFO_0000004	independent continuant	http://purl.obolibrary.org/obo/BFO_0000002	continuant		
http://purl.obolibrary.org/obo/BFO_0000020	specifically dependent continuant	http://purl.obolibrary.org/obo/BFO_0000002	continuant		
http://purl.obolibrary.org/obo/BFO_0000031	generically dependent continuant	http://purl.obolibrary.org/obo/BFO_0000002	continuant		
http://purl.obolibrary.org/obo/CL_4023161	unipolar brush cell	http://purl.obolibrary.org/obo/CL_0000679	glutamatergic neuron		
http://purl.obolibrary.org/obo/CL_0000017	spermatocyte	http://purl.obolibrary.org/obo/CL_0000015	male germ cell		
http://purl.obolibrary.org/obo/CL_0000018	spermatid	http://purl.obolibrary.org/obo/CL_0000413	haploid cell		
http://purl.obolibrary.org/obo/CL_0000019	sperm	http://purl.obolibrary.org/obo/CL_0000408	male gamete		
http://purl.obolibrary.org/obo/CL_0000023	oocyte	http://purl.obolibrary.org/obo/CL_0000021	female germ cell		
http://purl.obolibrary.org/obo/CL_0000024	oogonial cell	http://purl.obolibrary.org/obo/CL_0000021	female germ cell		
http://purl.obolibrary.org/obo/CL_0000025	egg cell	http://purl.obolibrary.org/obo/CL_0000675	female gamete		
http://purl.obolibrary.org/obo/CL_0000029	neural crest derived neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0000047	neural stem cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000062	osteoblast	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000079	stratified epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000095	neuron associated cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000107	autonomic neuron	http://purl.obolibrary.org/obo/CL_2000032	peripheral nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000115	endothelial cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000136	adipocyte	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000148	melanocyte	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000178	Leydig cell	http://purl.obolibrary.org/obo/CL_0000177	testosterone secreting cell		
http://purl.obolibrary.org/obo/CL_0000182	hepatocyte	http://purl.obolibrary.org/obo/CL_0000417	endopolyploid cell		
http://purl.obolibrary.org/obo/CL_0000187	muscle cell	http://purl.obolibrary.org/obo/CL_0000393	electrically responsive cell		
http://purl.obolibrary.org/obo/CL_0000347	scleral cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000348	choroidal cell of the eye	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000351	trophoblast cell	http://purl.obolibrary.org/obo/CL_0000349	extraembryonic cell		
http://purl.obolibrary.org/obo/CL_0000499	stromal cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000501	granulosa cell	http://purl.obolibrary.org/obo/CL_0002174	follicular cell of ovary		
http://purl.obolibrary.org/obo/CL_0000530	primary neuron (sensu Teleostei)	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000561	amacrine cell	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		
http://purl.obolibrary.org/obo/CL_0000650	mesangial cell	http://purl.obolibrary.org/obo/CL_1001318	renal interstitial pericyte		
http://purl.obolibrary.org/obo/CL_0000738	leukocyte	http://purl.obolibrary.org/obo/CL_0002242	nucleate cell		
http://purl.obolibrary.org/obo/CL_0000740	retinal ganglion cell	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0000745	retina horizontal cell	http://purl.obolibrary.org/obo/CL_0000099	interneuron		
http://purl.obolibrary.org/obo/CL_0000763	myeloid cell	http://purl.obolibrary.org/obo/CL_0000988	hematopoietic cell		
http://purl.obolibrary.org/obo/CL_0000837	hematopoietic multipotent progenitor cell	http://purl.obolibrary.org/obo/CL_0008001	hematopoietic precursor cell		
http://purl.obolibrary.org/obo/CL_0002031	hematopoietic lineage restricted progenitor cell	http://purl.obolibrary.org/obo/CL_0008001	hematopoietic precursor cell		
http://purl.obolibrary.org/obo/CL_0002032	hematopoietic oligopotent progenitor cell	http://purl.obolibrary.org/obo/CL_0008001	hematopoietic precursor cell		
http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002153	corneocyte	http://purl.obolibrary.org/obo/CL_0000311	keratin accumulating cell		
http://purl.obolibrary.org/obo/CL_0002326	luminal epithelial cell of mammary gland	http://purl.obolibrary.org/obo/CL_0002327	mammary gland epithelial cell		
http://purl.obolibrary.org/obo/CL_0002608	hippocampal neuron	http://purl.obolibrary.org/obo/CL_0010012	cerebral cortex neuron		
http://purl.obolibrary.org/obo/CL_0002610	raphe nuclei neuron	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0002672	retinal progenitor cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0007004	premigratory neural crest cell	http://purl.obolibrary.org/obo/CL_0011012	neural crest cell		
http://purl.obolibrary.org/obo/CL_0010009	camera-type eye photoreceptor cell	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		
http://purl.obolibrary.org/obo/CL_0010022	cardiac neuron	http://purl.obolibrary.org/obo/CL_2000032	peripheral nervous system neuron		
http://purl.obolibrary.org/obo/CL_0011113	spiral ganglion neuron	http://purl.obolibrary.org/obo/CL_2000032	peripheral nervous system neuron		
http://purl.obolibrary.org/obo/CL_1000488	cholangiocyte	http://purl.obolibrary.org/obo/CL_0000069	branched duct epithelial cell		
http://purl.obolibrary.org/obo/CL_1000606	kidney nerve cell	http://purl.obolibrary.org/obo/CL_2000032	peripheral nervous system neuron		
http://purl.obolibrary.org/obo/CL_1000854	kidney blood vessel cell	http://purl.obolibrary.org/obo/CL_1000504	kidney medulla cell		
http://purl.obolibrary.org/obo/CL_1001611	cerebellar neuron	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0011026	progenitor cell	http://purl.obolibrary.org/obo/CL_0011115	precursor cell		
http://purl.obolibrary.org/obo/CL_2000047	brainstem motor neuron	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0009010	transit amplifying cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/BFO_0000015	process	http://purl.obolibrary.org/obo/BFO_0000003	occurrent		
http://purl.obolibrary.org/obo/UBERON_0000000	obsolete processual entity	http://purl.obolibrary.org/obo/BFO_0000003	occurrent		
http://purl.obolibrary.org/obo/GO_0004875	complement receptor activity	http://purl.obolibrary.org/obo/GO_0140375	immune receptor activity		
http://purl.obolibrary.org/obo/GO_0004896	cytokine receptor activity	http://purl.obolibrary.org/obo/GO_0140375	immune receptor activity		
http://purl.obolibrary.org/obo/HsapDv_0000114	20-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000144	50-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/BFO_0000040	material entity	http://purl.obolibrary.org/obo/BFO_0000004	independent continuant		
http://purl.obolibrary.org/obo/BFO_0000141	immaterial entity	http://purl.obolibrary.org/obo/BFO_0000004	independent continuant		
http://purl.obolibrary.org/obo/UBERON_0001062	anatomical entity	http://purl.obolibrary.org/obo/BFO_0000004	independent continuant		
http://purl.obolibrary.org/obo/BFO_0000144	process profile	http://purl.obolibrary.org/obo/BFO_0000015	process		
http://purl.obolibrary.org/obo/UBERON_0000104	life cycle	http://purl.obolibrary.org/obo/BFO_0000015	process		
http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage	http://purl.obolibrary.org/obo/BFO_0000015	process		
http://purl.obolibrary.org/obo/MFOMD_0000024	pathological mental process	http://purl.obolibrary.org/obo/BFO_0000015	process		
http://purl.obolibrary.org/obo/GO_0007610	behavior	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0008228	opsonization	http://purl.obolibrary.org/obo/GO_0002252	immune effector process		
http://purl.obolibrary.org/obo/ENVO_01000993	manufacturing process	http://purl.obolibrary.org/obo/ENVO_02500027	anthropogenic environmental process		
http://purl.obolibrary.org/obo/BFO_0000016	disposition	http://purl.obolibrary.org/obo/BFO_0000017	realizable entity		
http://purl.obolibrary.org/obo/BFO_0000023	role	http://purl.obolibrary.org/obo/BFO_0000017	realizable entity		
http://purl.obolibrary.org/obo/BFO_0000017	realizable entity	http://purl.obolibrary.org/obo/BFO_0000020	specifically dependent continuant		
http://purl.obolibrary.org/obo/BFO_0000019	quality	http://purl.obolibrary.org/obo/BFO_0000020	specifically dependent continuant		
http://purl.obolibrary.org/obo/ENVO_01000804	astronomical object	http://purl.obolibrary.org/obo/BFO_0000030	object		
http://purl.obolibrary.org/obo/ENVO_01001008	meteor	http://purl.obolibrary.org/obo/BFO_0000030	object		
http://purl.obolibrary.org/obo/IAO_0000030	information content entity	http://purl.obolibrary.org/obo/BFO_0000031	generically dependent continuant		
http://purl.obolibrary.org/obo/BFO_0000024	fiat object part	http://purl.obolibrary.org/obo/BFO_0000040	material entity		
http://purl.obolibrary.org/obo/BFO_0000027	object aggregate	http://purl.obolibrary.org/obo/BFO_0000040	material entity		
http://purl.obolibrary.org/obo/BFO_0000030	object	http://purl.obolibrary.org/obo/BFO_0000040	material entity		
http://purl.obolibrary.org/obo/ENVO_00010483	environmental material	http://purl.obolibrary.org/obo/BFO_0000040	material entity		
http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity	http://purl.obolibrary.org/obo/UBERON_0001062	anatomical entity		
http://purl.obolibrary.org/obo/ENVO_01000281	layer	http://purl.obolibrary.org/obo/BFO_0000040	material entity		
http://purl.obolibrary.org/obo/ENVO_00003074	manufactured product	http://purl.obolibrary.org/obo/BFO_0000040	material entity		
http://purl.obolibrary.org/obo/BFO_0000006	spatial region	http://purl.obolibrary.org/obo/BFO_0000141	immaterial entity		
http://purl.obolibrary.org/obo/UBERON_0000466	immaterial anatomical entity	http://purl.obolibrary.org/obo/UBERON_0001062	anatomical entity		
http://purl.obolibrary.org/obo/ENVO_06105205	compacted soil	http://purl.obolibrary.org/obo/ENVO_00001998	soil		
http://purl.obolibrary.org/obo/ENVO_00005786	upland soil	http://purl.obolibrary.org/obo/ENVO_00001998	soil		
http://purl.obolibrary.org/obo/ENVO_2000045	hydrocarbon-based environmental material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_00001998	soil	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/ENVO_02000140	fluid environmental material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_0010001	anthropogenic environmental material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_01000155	organic material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_01000406	snow	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_00000134	permafrost	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_00010505	aerosol	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_01000637	outer space	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_01001069	metallic material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/ENVO_01001154	volatile astrogeological material	http://purl.obolibrary.org/obo/ENVO_00010483	environmental material		
http://purl.obolibrary.org/obo/IAO_0000027	data item	http://purl.obolibrary.org/obo/IAO_0000030	information content entity		
http://purl.obolibrary.org/obo/NCBITaxon_262014	Xenopus <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_8353	Xenopus <genus>		
http://purl.obolibrary.org/obo/PATO_0001985	frozen	http://purl.obolibrary.org/obo/PATO_0000146	temperature		
http://purl.obolibrary.org/obo/ENVO_01001363	volume of hydrological precipitation	http://purl.obolibrary.org/obo/PATO_0000918	volume		
http://purl.obolibrary.org/obo/PATO_0001374	ploidy	http://purl.obolibrary.org/obo/PATO_0001396	cellular quality		
http://purl.obolibrary.org/obo/PATO_0040072	high nuclear/cytoplasmic ratio	http://purl.obolibrary.org/obo/PATO_0001396	cellular quality		
http://purl.obolibrary.org/obo/PATO_0000047	biological sex	http://purl.obolibrary.org/obo/PATO_0001995	organismal quality		
http://purl.obolibrary.org/obo/PATO_0000186	behavioral quality	http://purl.obolibrary.org/obo/PATO_0001995	organismal quality		
http://purl.obolibrary.org/obo/SO_0001411	biological_region	http://purl.obolibrary.org/obo/SO_0000001	region		
http://purl.obolibrary.org/obo/FOODON_00001094	fermented beverage	http://purl.obolibrary.org/obo/FOODON_00001258	food (fermented)		
http://purl.obolibrary.org/obo/FOODON_03411017	oil-producing plant	http://purl.obolibrary.org/obo/FOODON_03411013	plant used for producing extract or concentrate		
http://purl.obolibrary.org/obo/FOODON_03411213	nut producing plant	http://purl.obolibrary.org/obo/FOODON_03411607	nut or edible seed producing plant		
http://purl.obolibrary.org/obo/CL_0001063	neoplastic cell	http://purl.obolibrary.org/obo/CL_0001061	abnormal cell		
http://purl.obolibrary.org/obo/CL_0001064	malignant cell	http://purl.obolibrary.org/obo/CL_0001063	neoplastic cell		
http://purl.obolibrary.org/obo/CL_0001068	ILC1	http://purl.obolibrary.org/obo/CL_0001067	group 1 innate lymphoid cell		
http://purl.obolibrary.org/obo/CL_0000623	natural killer cell	http://purl.obolibrary.org/obo/CL_0001067	group 1 innate lymphoid cell		
http://purl.obolibrary.org/obo/GO_0048812	neuron projection morphogenesis	http://purl.obolibrary.org/obo/GO_0120039	plasma membrane bounded cell projection morphogenesis		
http://purl.obolibrary.org/obo/GO_0031175	neuron projection development	http://purl.obolibrary.org/obo/GO_0120036	plasma membrane bounded cell projection organization		
http://purl.obolibrary.org/obo/GO_0031268	pseudopodium organization	http://purl.obolibrary.org/obo/GO_0120036	plasma membrane bounded cell projection organization		
http://purl.obolibrary.org/obo/GO_0044782	cilium organization	http://purl.obolibrary.org/obo/GO_0006996	organelle organization		
http://purl.obolibrary.org/obo/GO_0120031	plasma membrane bounded cell projection assembly	http://purl.obolibrary.org/obo/GO_0030031	cell projection assembly		
http://purl.obolibrary.org/obo/HP_0009799	Supernumerary spleens	http://purl.obolibrary.org/obo/HP_0025408	Abnormal spleen morphology		
http://purl.obolibrary.org/obo/HP_0010451	Aplasia/Hypoplasia of the spleen	http://purl.obolibrary.org/obo/HP_0025408	Abnormal spleen morphology		
http://purl.obolibrary.org/obo/HP_0010452	Ectopia of the spleen	http://purl.obolibrary.org/obo/HP_0025408	Abnormal spleen morphology		
http://purl.obolibrary.org/obo/HP_0001602	Laryngeal stenosis	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0001607	Subglottic stenosis	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0008777	Abnormal vocal cord morphology	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0005483	Abnormal epiglottis morphology	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0005945	Laryngeal obstruction	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0008744	Abnormal aryepiglottic fold morphology	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0008747	Cartilaginous ossification of larynx	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0008749	Laryngeal hypoplasia	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0008750	Laryngeal atresia	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0008751	Laryngeal cleft	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0008752	Laryngeal cartilage malformation	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0012027	Laryngeal edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0100640	Laryngeal cyst	http://purl.obolibrary.org/obo/HP_0025423	Abnormal larynx morphology		
http://purl.obolibrary.org/obo/HP_0006511	Laryngeal stridor	http://purl.obolibrary.org/obo/HP_0025424	Abnormal larynx physiology		
http://purl.obolibrary.org/obo/HP_0002110	Bronchiectasis	http://purl.obolibrary.org/obo/HP_0025426	Abnormal bronchus morphology		
http://purl.obolibrary.org/obo/HP_0006533	Bronchodysplasia	http://purl.obolibrary.org/obo/HP_0025426	Abnormal bronchus morphology		
http://purl.obolibrary.org/obo/HP_0006539	Bronchial cartilage hypoplasia	http://purl.obolibrary.org/obo/HP_0025426	Abnormal bronchus morphology		
http://purl.obolibrary.org/obo/HP_0010777	Bronchomegaly	http://purl.obolibrary.org/obo/HP_0025426	Abnormal bronchus morphology		
http://purl.obolibrary.org/obo/HP_0030715	Bronchial atresia	http://purl.obolibrary.org/obo/HP_0025426	Abnormal bronchus morphology		
http://purl.obolibrary.org/obo/HP_0030085	Abnormal CSF lactate concentration	http://purl.obolibrary.org/obo/HP_0025454	Abnormal CSF metabolite concentration		
http://purl.obolibrary.org/obo/HP_0010955	Dilatation of the bladder	http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology		
http://purl.obolibrary.org/obo/HP_0100577	Urinary bladder inflammation	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0008635	Urinary bladder wall hypertrophy	http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology		
http://purl.obolibrary.org/obo/HP_0010476	Aplasia/Hypoplasia of the bladder	http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology		
http://purl.obolibrary.org/obo/HP_0010478	Abnormality of the urachus	http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology		
http://purl.obolibrary.org/obo/HP_0025489	Bladder duplication	http://purl.obolibrary.org/obo/HP_0025487	Abnormal bladder morphology		
http://purl.obolibrary.org/obo/HP_0011580	Short chordae tendineae of the mitral valve	http://purl.obolibrary.org/obo/HP_0025523	Abnormal morphology of the chordae tendinae of the mitral valve		
http://purl.obolibrary.org/obo/HP_0004415	Pulmonary artery stenosis	http://purl.obolibrary.org/obo/HP_0030966	Abnormal pulmonary artery morphology		
http://purl.obolibrary.org/obo/HP_0004935	Pulmonary artery atresia	http://purl.obolibrary.org/obo/HP_0030966	Abnormal pulmonary artery morphology		
http://purl.obolibrary.org/obo/HP_0004960	Absent pulmonary artery	http://purl.obolibrary.org/obo/HP_0030966	Abnormal pulmonary artery morphology		
http://purl.obolibrary.org/obo/HP_0004971	Pulmonary artery hypoplasia	http://purl.obolibrary.org/obo/HP_0030966	Abnormal pulmonary artery morphology		
http://purl.obolibrary.org/obo/HP_0005304	Hypoplastic pulmonary veins	http://purl.obolibrary.org/obo/HP_0030968	Abnormal pulmonary vein morphology		
http://purl.obolibrary.org/obo/HP_0000138	Ovarian cyst	http://purl.obolibrary.org/obo/HP_0031065	Abnormal ovarian morphology		
http://purl.obolibrary.org/obo/HP_0010462	Aplasia/Hypoplasia of the ovary	http://purl.obolibrary.org/obo/HP_0031065	Abnormal ovarian morphology		
http://purl.obolibrary.org/obo/HP_0100879	Enlarged ovaries	http://purl.obolibrary.org/obo/HP_0031065	Abnormal ovarian morphology		
http://purl.obolibrary.org/obo/HP_0003864	Bifid humerus	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003871	Deformed humerus	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003876	Osteoporotic humerus	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003884	Triangular humerus	http://purl.obolibrary.org/obo/HP_0031095	Abnormal humerus morphology		
http://purl.obolibrary.org/obo/HP_0003886	Wide humerus	http://purl.obolibrary.org/obo/HP_0005622	Broad long bones		
http://purl.obolibrary.org/obo/HP_0006507	Aplasia/hypoplasia of the humerus	http://purl.obolibrary.org/obo/HP_0006496	Aplasia/hypoplasia involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0006561	Lipid accumulation in hepatocytes	http://purl.obolibrary.org/obo/HP_0031137	Storage in hepatocytes		
http://purl.obolibrary.org/obo/HP_0005419	Decreased T cell activation	http://purl.obolibrary.org/obo/HP_0410035	Abnormal T cell activation		
http://purl.obolibrary.org/obo/MONDO_0015962	inherited renal tubular disease	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0037744	neoplasm of retromolar area	http://purl.obolibrary.org/obo/MONDO_0021580	neoplasm of jaw		
http://purl.obolibrary.org/obo/MONDO_0021677	post-infectious neuralgia	http://purl.obolibrary.org/obo/MONDO_0021674	post-viral disorder		
http://purl.obolibrary.org/obo/GO_0045983	positive regulation of purine nucleobase metabolic process	http://purl.obolibrary.org/obo/GO_0006141	regulation of purine nucleobase metabolic process		
http://purl.obolibrary.org/obo/GO_0045985	positive regulation of pyrimidine nucleobase metabolic process	http://purl.obolibrary.org/obo/GO_0019219	regulation of nucleobase-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0046136	positive regulation of vitamin metabolic process	http://purl.obolibrary.org/obo/GO_0030656	regulation of vitamin metabolic process		
http://purl.obolibrary.org/obo/GO_1904775	positive regulation of ubiquinone biosynthetic process	http://purl.obolibrary.org/obo/GO_0010795	regulation of ubiquinone biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045981	positive regulation of nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0045937	positive regulation of phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0045923	positive regulation of fatty acid metabolic process	http://purl.obolibrary.org/obo/GO_0045834	positive regulation of lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0090205	positive regulation of cholesterol metabolic process	http://purl.obolibrary.org/obo/GO_0045940	positive regulation of steroid metabolic process		
http://purl.obolibrary.org/obo/GO_1900421	positive regulation of alcohol catabolic process	http://purl.obolibrary.org/obo/GO_0009896	positive regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_1901717	positive regulation of GABA catabolic process	http://purl.obolibrary.org/obo/GO_0009896	positive regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0010907	positive regulation of glucose metabolic process	http://purl.obolibrary.org/obo/GO_0045913	positive regulation of carbohydrate metabolic process		
http://purl.obolibrary.org/obo/GO_1902932	positive regulation of alcohol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902930	regulation of alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0070859	positive regulation of bile acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0070857	regulation of bile acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045982	negative regulation of purine nucleobase metabolic process	http://purl.obolibrary.org/obo/GO_0045934	negative regulation of nucleobase-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0045984	negative regulation of pyrimidine nucleobase metabolic process	http://purl.obolibrary.org/obo/GO_0045934	negative regulation of nucleobase-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_1904774	negative regulation of ubiquinone biosynthetic process	http://purl.obolibrary.org/obo/GO_0010795	regulation of ubiquinone biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045980	negative regulation of nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0045936	negative regulation of phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0045721	negative regulation of gluconeogenesis	http://purl.obolibrary.org/obo/GO_0045912	negative regulation of carbohydrate metabolic process		
http://purl.obolibrary.org/obo/GO_0045922	negative regulation of fatty acid metabolic process	http://purl.obolibrary.org/obo/GO_0045833	negative regulation of lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0090206	negative regulation of cholesterol metabolic process	http://purl.obolibrary.org/obo/GO_0045939	negative regulation of steroid metabolic process		
http://purl.obolibrary.org/obo/GO_1900420	negative regulation of alcohol catabolic process	http://purl.obolibrary.org/obo/GO_0009895	negative regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_1901716	negative regulation of GABA catabolic process	http://purl.obolibrary.org/obo/GO_0009895	negative regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_2000225	negative regulation of testosterone biosynthetic process	http://purl.obolibrary.org/obo/GO_0010894	negative regulation of steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0046137	negative regulation of vitamin metabolic process	http://purl.obolibrary.org/obo/GO_0030656	regulation of vitamin metabolic process		
http://purl.obolibrary.org/obo/GO_1902931	negative regulation of alcohol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902930	regulation of alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0070858	negative regulation of bile acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0070857	regulation of bile acid biosynthetic process		
http://purl.obolibrary.org/obo/MONDO_0016540	congenital secondary polycythemia	http://purl.obolibrary.org/obo/MONDO_0020115	secondary polycythemia		
http://purl.obolibrary.org/obo/MONDO_0018487	autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	http://purl.obolibrary.org/obo/MONDO_0028226	autosomal recessive severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0012930	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	http://purl.obolibrary.org/obo/MONDO_0028226	autosomal recessive severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0014118	congenital neutropenia-myelofibrosis-nephromegaly syndrome	http://purl.obolibrary.org/obo/MONDO_0028226	autosomal recessive severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0014456	autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	http://purl.obolibrary.org/obo/MONDO_0028226	autosomal recessive severe congenital neutropenia		
http://purl.obolibrary.org/obo/MONDO_0014865	autosomal recessive severe congenital neutropenia due to CSF3R deficiency	http://purl.obolibrary.org/obo/MONDO_0028226	autosomal recessive severe congenital neutropenia		
http://purl.obolibrary.org/obo/ENVO_01001085	atmospheric aerosol formation	http://purl.obolibrary.org/obo/ENVO_02500003	atmospheric process		
http://purl.obolibrary.org/obo/ENVO_01001679	fluid front	http://purl.obolibrary.org/obo/ENVO_01001677	fluid interface layer		
http://purl.obolibrary.org/obo/ENVO_01000544	boundary layer	http://purl.obolibrary.org/obo/ENVO_01001677	fluid interface layer		
http://purl.obolibrary.org/obo/ENVO_01001677	fluid interface layer	http://purl.obolibrary.org/obo/ENVO_01001684	interface layer		
http://purl.obolibrary.org/obo/ENVO_01000267	atmosphere	http://purl.obolibrary.org/obo/ENVO_01001678	fluid layer		
http://purl.obolibrary.org/obo/ENVO_01001681	weather front	http://purl.obolibrary.org/obo/ENVO_01000543	atmospheric layer		
http://purl.obolibrary.org/obo/ENVO_01001698	polar front	http://purl.obolibrary.org/obo/ENVO_01001681	weather front		
http://purl.obolibrary.org/obo/ENVO_00010504	surface layer	http://purl.obolibrary.org/obo/ENVO_01001684	interface layer		
http://purl.obolibrary.org/obo/ENVO_01000801	star	http://purl.obolibrary.org/obo/ENVO_01000799	astronomical body		
http://purl.obolibrary.org/obo/ENVO_01001122	gas planet	http://purl.obolibrary.org/obo/ENVO_01000800	planet		
http://purl.obolibrary.org/obo/ENVO_01000981	mass liquid flow	http://purl.obolibrary.org/obo/ENVO_01001747	mass fluid flow		
http://purl.obolibrary.org/obo/ENVO_01000635	planetary landmass	http://purl.obolibrary.org/obo/ENVO_01000324	planetary surface		
http://purl.obolibrary.org/obo/ENVO_01001524	frozen land	http://purl.obolibrary.org/obo/ENVO_01001785	land		
http://purl.obolibrary.org/obo/ENVO_01001782	landmass	http://purl.obolibrary.org/obo/ENVO_01001785	land		
http://purl.obolibrary.org/obo/ENVO_01001788	marine ecosystem	http://purl.obolibrary.org/obo/ENVO_01000320	marine environment		
http://purl.obolibrary.org/obo/ENVO_00000447	marine biome	http://purl.obolibrary.org/obo/ENVO_00002030	aquatic biome		
http://purl.obolibrary.org/obo/ENVO_00000446	terrestrial biome	http://purl.obolibrary.org/obo/ENVO_00000428	biome		
http://purl.obolibrary.org/obo/ENVO_01001206	grassland ecosystem	http://purl.obolibrary.org/obo/ENVO_01001790	terrestrial ecosystem		
http://purl.obolibrary.org/obo/ENVO_01001243	forest ecosystem	http://purl.obolibrary.org/obo/ENVO_01001790	terrestrial ecosystem		
http://purl.obolibrary.org/obo/ENVO_02500014	forest process	http://purl.obolibrary.org/obo/ENVO_01001795	ecosystem process		
http://purl.obolibrary.org/obo/ENVO_02500005	land degradation	http://purl.obolibrary.org/obo/ENVO_01001795	ecosystem process		
http://purl.obolibrary.org/obo/ENVO_00000070	human construction	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/ENVO_01001023	radiation	http://purl.obolibrary.org/obo/ENVO_01001852	energy transfer process		
http://purl.obolibrary.org/obo/ENVO_01000797	gaseous environmental material	http://purl.obolibrary.org/obo/ENVO_02000140	fluid environmental material		
http://purl.obolibrary.org/obo/ENVO_01000231	lava	http://purl.obolibrary.org/obo/ENVO_02000140	fluid environmental material		
http://purl.obolibrary.org/obo/ENVO_01000648	magma	http://purl.obolibrary.org/obo/ENVO_02000140	fluid environmental material		
http://purl.obolibrary.org/obo/ENVO_01000798	plasma	http://purl.obolibrary.org/obo/ENVO_02000140	fluid environmental material		
http://purl.obolibrary.org/obo/ENVO_01001088	aerosolised liquids	http://purl.obolibrary.org/obo/ENVO_00010505	aerosol		
http://purl.obolibrary.org/obo/NCIT_C68748	HER2/Neu Positive	http://purl.obolibrary.org/obo/NCIT_C16152	HER2/Neu Status		
http://purl.obolibrary.org/obo/NCIT_C183255	NTRK Gene Fusion Positive	http://purl.obolibrary.org/obo/NCIT_C138156	TRK Receptor Family Fusion Positive		
http://purl.obolibrary.org/obo/HP_0100839	Hepatic agenesis	http://purl.obolibrary.org/obo/HP_0034181	Aplasia/Hypoplasia of the liver		
http://purl.obolibrary.org/obo/NCBITaxon_15956	Phleum	http://purl.obolibrary.org/obo/NCBITaxon_2948964	Phleinae		
http://purl.obolibrary.org/obo/NCBITaxon_1678143	Paslahepevirus balayani	http://purl.obolibrary.org/obo/NCBITaxon_2948857	Paslahepevirus		
http://purl.obolibrary.org/obo/NCBITaxon_766764	Debaryomycetaceae	http://purl.obolibrary.org/obo/NCBITaxon_2916678	Serinales		
http://purl.obolibrary.org/obo/NCBITaxon_6937	Ornithodoros	http://purl.obolibrary.org/obo/NCBITaxon_2945031	Ornithodorinae		
http://purl.obolibrary.org/obo/NCBITaxon_2948857	Paslahepevirus	http://purl.obolibrary.org/obo/NCBITaxon_2946639	Orthohepevirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2948964	Phleinae	http://purl.obolibrary.org/obo/NCBITaxon_2948570	Poodinae		
http://purl.obolibrary.org/obo/NCBITaxon_640628	Poinae	http://purl.obolibrary.org/obo/NCBITaxon_2948570	Poodinae		
http://purl.obolibrary.org/obo/CL_4030032	valve interstitial cell	http://purl.obolibrary.org/obo/CL_1000147	cardiac valve cell		
http://purl.obolibrary.org/obo/CL_0002241	pulmonary interstitial fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0009091	Leydig stem cell	http://purl.obolibrary.org/obo/CL_0000034	stem cell		
http://purl.obolibrary.org/obo/MONDO_0859573	bent bone dysplasia syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031615	familial bent bone dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0013815	bent bone dysplasia syndrome 1	http://purl.obolibrary.org/obo/MONDO_0031615	familial bent bone dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0017639	carbon monoxide-induced parkinsonism	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		
http://purl.obolibrary.org/obo/MONDO_0009633	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	http://purl.obolibrary.org/obo/MONDO_0100236	LTBP2-related ocular dysgenesis		
http://purl.obolibrary.org/obo/MONDO_0859567	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031329	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome		
http://purl.obolibrary.org/obo/NCBITaxon_186540	Sudan ebolavirus	http://purl.obolibrary.org/obo/NCBITaxon_3052460	Orthoebolavirus sudanense		
http://purl.obolibrary.org/obo/NCBITaxon_186538	Zaire ebolavirus	http://purl.obolibrary.org/obo/NCBITaxon_3052462	Orthoebolavirus zairense		
http://purl.obolibrary.org/obo/NCBITaxon_2560526	Human orthorubulavirus 4	http://purl.obolibrary.org/obo/NCBITaxon_3052556	Orthorubulavirus hominis		
http://purl.obolibrary.org/obo/NCBITaxon_2560525	Human orthorubulavirus 2	http://purl.obolibrary.org/obo/NCBITaxon_3052557	Orthorubulavirus laryngotracheitidis		
http://purl.obolibrary.org/obo/NCBITaxon_2560602	Mumps orthorubulavirus	http://purl.obolibrary.org/obo/NCBITaxon_3052560	Orthorubulavirus parotitidis		
http://purl.obolibrary.org/obo/NCBITaxon_565995	Bundibugyo virus	http://purl.obolibrary.org/obo/NCBITaxon_3052458	Orthoebolavirus bundibugyoense		
http://purl.obolibrary.org/obo/NCBITaxon_9702	Otariidae	http://purl.obolibrary.org/obo/NCBITaxon_3072905	Pinnipedia		
http://purl.obolibrary.org/obo/NCBITaxon_9709	Phocidae	http://purl.obolibrary.org/obo/NCBITaxon_3072905	Pinnipedia		
http://purl.obolibrary.org/obo/MONDO_0011151	exudative vitreoretinopathy 4	http://purl.obolibrary.org/obo/MONDO_0700228	LRP5-related exudative vitreoretinopathy		
http://purl.obolibrary.org/obo/MONDO_0010335	X-linked cone-rod dystrophy 3	http://purl.obolibrary.org/obo/MONDO_0021155	X-linked cone-rod dystrophy		
http://purl.obolibrary.org/obo/MONDO_0010292	Uruguay Faciocardiomusculoskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0800462	FHL1-related myopathy		
http://purl.obolibrary.org/obo/MONDO_0035706	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0859333	intellectual developmental disorder, autosomal dominant 70	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/HP_6000946	Transverse terminal lower limb defect	http://purl.obolibrary.org/obo/HP_6000818	Transverse terminal limb defect		
http://purl.obolibrary.org/obo/MONDO_0011141	megaloblastic anemia, folate-responsive	http://purl.obolibrary.org/obo/MONDO_0971066	megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency		
http://purl.obolibrary.org/obo/MONDO_0975753	papillary hemangioma	http://purl.obolibrary.org/obo/MONDO_0971115	benign vascular tumor		
http://purl.obolibrary.org/obo/MONDO_0975755	eccrine angiomatous hamartoma	http://purl.obolibrary.org/obo/MONDO_0971115	benign vascular tumor		
http://purl.obolibrary.org/obo/MONDO_0975756	reactive angioendotheliomatosis	http://purl.obolibrary.org/obo/MONDO_0971115	benign vascular tumor		
http://purl.obolibrary.org/obo/MONDO_0975757	anastomosing haemangioma	http://purl.obolibrary.org/obo/MONDO_0971115	benign vascular tumor		
http://purl.obolibrary.org/obo/MONDO_0975758	microvenular haemangioma	http://purl.obolibrary.org/obo/MONDO_0971115	benign vascular tumor		
http://purl.obolibrary.org/obo/MONDO_0975759	acquired elastotic haemangioma	http://purl.obolibrary.org/obo/MONDO_0971115	benign vascular tumor		
http://purl.obolibrary.org/obo/MONDO_0975754	pseudomyogenic hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0971116	borderline vascular tumor		
http://purl.obolibrary.org/obo/MONDO_7770060	leukocyte adhesion deficiency, water buffalo	http://purl.obolibrary.org/obo/MONDO_1012580	leukocyte adhesion deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770382	leukocyte adhesion deficiency, type I, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1012580	leukocyte adhesion deficiency, non-human animal		
http://purl.obolibrary.org/obo/CHEBI_35143	hemoglobin	http://purl.obolibrary.org/obo/CHEBI_5386	globin		
http://purl.obolibrary.org/obo/CHEBI_5386	globin	http://purl.obolibrary.org/obo/CHEBI_35137	hemoprotein		
http://purl.obolibrary.org/obo/CHEBI_15036	retinoate	http://purl.obolibrary.org/obo/CHEBI_139589	retinoid anion		
http://purl.obolibrary.org/obo/CHEBI_176894	vitamin B6 phosphate anion	http://purl.obolibrary.org/obo/CHEBI_27306	vitamin B6		
http://purl.obolibrary.org/obo/CHEBI_48376	carbamimidic acid	http://purl.obolibrary.org/obo/CHEBI_48379	isourea		
http://purl.obolibrary.org/obo/CHEBI_169952	13-cis-retinoate	http://purl.obolibrary.org/obo/CHEBI_15036	retinoate		
http://purl.obolibrary.org/obo/CHEBI_33720	carbohydrate acid	http://purl.obolibrary.org/obo/CHEBI_33575	carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_29057	keratan	http://purl.obolibrary.org/obo/CHEBI_18085	glycosaminoglycan		
http://purl.obolibrary.org/obo/CHEBI_48154	sulfur oxide	http://purl.obolibrary.org/obo/CHEBI_26835	sulfur molecular entity		
http://purl.obolibrary.org/obo/CHEBI_15379	dioxygen	http://purl.obolibrary.org/obo/CHEBI_138675	gas molecular entity		
http://purl.obolibrary.org/obo/CHEBI_42485	formyl group	http://purl.obolibrary.org/obo/CHEBI_27207	univalent carboacyl group		
http://purl.obolibrary.org/obo/CHEBI_29989	D-glutamate(2-)	http://purl.obolibrary.org/obo/CHEBI_29987	glutamate(2-)		
http://purl.obolibrary.org/obo/CHEBI_16234	hydroxide	http://purl.obolibrary.org/obo/CHEBI_33693	oxygen hydride		
http://purl.obolibrary.org/obo/CHEBI_29412	oxonium	http://purl.obolibrary.org/obo/CHEBI_50313	onium cation		
http://purl.obolibrary.org/obo/CHEBI_29793	hydridodioxygen(1+)	http://purl.obolibrary.org/obo/CHEBI_33693	oxygen hydride		
http://purl.obolibrary.org/obo/CHEBI_26834	sulfur-containing amino acid	http://purl.obolibrary.org/obo/CHEBI_33576	sulfur-containing carboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_32860	valinium	http://purl.obolibrary.org/obo/CHEBI_33719	alpha-amino-acid cation		
http://purl.obolibrary.org/obo/CHEBI_39467	thiadiazole	http://purl.obolibrary.org/obo/CHEBI_38099	thiadiazoles		
http://purl.obolibrary.org/obo/CHEBI_50680	methotrexate(1-)	http://purl.obolibrary.org/obo/CHEBI_35695	dicarboxylic acid monoanion		
http://purl.obolibrary.org/obo/CHEBI_30795	malonate(1-)	http://purl.obolibrary.org/obo/CHEBI_35695	dicarboxylic acid monoanion		
http://purl.obolibrary.org/obo/CHEBI_38560	simple protein	http://purl.obolibrary.org/obo/CHEBI_36080	protein		
http://purl.obolibrary.org/obo/CHEBI_13941	carbamate	http://purl.obolibrary.org/obo/CHEBI_37022	amino-acid anion		
http://purl.obolibrary.org/obo/CHEBI_46629	oxo group	http://purl.obolibrary.org/obo/CHEBI_33246	inorganic group		
http://purl.obolibrary.org/obo/CHEBI_33703	amino-acid cation	http://purl.obolibrary.org/obo/CHEBI_25697	organic cation		
http://purl.obolibrary.org/obo/CHEBI_30099	diazynediium	http://purl.obolibrary.org/obo/CHEBI_35106	nitrogen hydride		
http://purl.obolibrary.org/obo/CHEBI_29337	azanide	http://purl.obolibrary.org/obo/CHEBI_79389	monovalent inorganic anion		
http://purl.obolibrary.org/obo/CHEBI_30102	diazynium	http://purl.obolibrary.org/obo/CHEBI_35106	nitrogen hydride		
http://purl.obolibrary.org/obo/CHEBI_33693	oxygen hydride	http://purl.obolibrary.org/obo/CHEBI_36902	chalcogen hydride		
http://purl.obolibrary.org/obo/CHEBI_28976	carbonic acid	http://purl.obolibrary.org/obo/CHEBI_35605	carbon oxoacid		
http://purl.obolibrary.org/obo/CHEBI_50315	chloronium	http://purl.obolibrary.org/obo/CHEBI_50313	onium cation		
http://purl.obolibrary.org/obo/CHEBI_39472	1,3,4-thiadiazole	http://purl.obolibrary.org/obo/CHEBI_39467	thiadiazole		
http://purl.obolibrary.org/obo/CL_0001061	abnormal cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000039	germ line cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000151	secretory cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000183	contractile cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000211	electrically active cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000219	motile cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000225	anucleate cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000329	oxygen accumulating cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000412	polyploid cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000413	haploid cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000424	excretory cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000630	supporting cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0000988	hematopoietic cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0002242	nucleate cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0007001	skeletogenic cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0011115	precursor cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_4033054	perivascular cell	http://purl.obolibrary.org/obo/CL_0000000	cell		
http://purl.obolibrary.org/obo/CL_0002363	keratocyte	http://purl.obolibrary.org/obo/CL_0000005	neural crest derived fibroblast		
http://purl.obolibrary.org/obo/CL_2000070	optic choroid fibroblast	http://purl.obolibrary.org/obo/CL_0000348	choroidal cell of the eye		
http://purl.obolibrary.org/obo/CL_0000207	olfactory receptor cell	http://purl.obolibrary.org/obo/CL_0000206	chemoreceptor cell		
http://purl.obolibrary.org/obo/CL_0000287	eye photoreceptor cell	http://purl.obolibrary.org/obo/CL_0000210	photoreceptor cell		
http://purl.obolibrary.org/obo/CL_1000223	pulmonary neuroendocrine cell	http://purl.obolibrary.org/obo/CL_1000272	lung secretory cell		
http://purl.obolibrary.org/obo/CL_0000353	blastoderm cell	http://purl.obolibrary.org/obo/CL_0000007	early embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_0000365	animal zygote	http://purl.obolibrary.org/obo/CL_0010017	zygote		
http://purl.obolibrary.org/obo/CL_0000022	female germ line stem cell	http://purl.obolibrary.org/obo/CL_0000021	female germ cell		
http://purl.obolibrary.org/obo/CL_0000020	spermatogonium	http://purl.obolibrary.org/obo/CL_0000015	male germ cell		
http://purl.obolibrary.org/obo/CL_0000408	male gamete	http://purl.obolibrary.org/obo/CL_0000300	gamete		
http://purl.obolibrary.org/obo/CL_0000656	primary spermatocyte	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000657	secondary spermatocyte	http://purl.obolibrary.org/obo/CL_0000413	haploid cell		
http://purl.obolibrary.org/obo/CL_0011013	motile sperm cell	http://purl.obolibrary.org/obo/CL_0000219	motile cell		
http://purl.obolibrary.org/obo/CL_0000675	female gamete	http://purl.obolibrary.org/obo/CL_0000300	gamete		
http://purl.obolibrary.org/obo/CL_0000654	primary oocyte	http://purl.obolibrary.org/obo/CL_0000023	oocyte		
http://purl.obolibrary.org/obo/CL_0000655	secondary oocyte	http://purl.obolibrary.org/obo/CL_0000023	oocyte		
http://purl.obolibrary.org/obo/CL_0000166	chromaffin cell	http://purl.obolibrary.org/obo/CL_0000568	amine precursor uptake and decarboxylation cell		
http://purl.obolibrary.org/obo/CL_0000339	glioblast (sensu Vertebrata)	http://purl.obolibrary.org/obo/CL_0000123	neuron associated cell (sensu Vertebrata)		
http://purl.obolibrary.org/obo/CL_0002362	cerebellar granule cell precursor	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0002676	neural crest derived neuroblast	http://purl.obolibrary.org/obo/CL_0000031	neuroblast (sensu Vertebrata)		
http://purl.obolibrary.org/obo/CL_1000042	forebrain neuroblast	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000014	germ line stem cell	http://purl.obolibrary.org/obo/CL_0000039	germ line cell		
http://purl.obolibrary.org/obo/CL_0000048	multi fate stem cell	http://purl.obolibrary.org/obo/CL_0000034	stem cell		
http://purl.obolibrary.org/obo/CL_0000723	somatic stem cell	http://purl.obolibrary.org/obo/CL_0000034	stem cell		
http://purl.obolibrary.org/obo/CL_4030035	dental pulp stem cell	http://purl.obolibrary.org/obo/CL_0002148	dental pulp cell		
http://purl.obolibrary.org/obo/CL_0000357	stratified epithelial stem cell	http://purl.obolibrary.org/obo/CL_0000036	epithelial fate stem cell		
http://purl.obolibrary.org/obo/CL_0000646	basal cell	http://purl.obolibrary.org/obo/CL_0000036	epithelial fate stem cell		
http://purl.obolibrary.org/obo/CL_0001008	Kit and Sca1-positive hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0000037	hematopoietic stem cell		
http://purl.obolibrary.org/obo/CL_0001024	CD34-positive, CD38-negative hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0000037	hematopoietic stem cell		
http://purl.obolibrary.org/obo/CL_0002246	peripheral blood stem cell	http://purl.obolibrary.org/obo/CL_0000080	circulating cell		
http://purl.obolibrary.org/obo/CL_0002352	gestational hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0000037	hematopoietic stem cell		
http://purl.obolibrary.org/obo/CL_0001066	erythroid progenitor cell, mammalian	http://purl.obolibrary.org/obo/CL_0000038	erythroid progenitor cell		
http://purl.obolibrary.org/obo/CL_0000586	germ cell	http://purl.obolibrary.org/obo/CL_0000039	germ line cell		
http://purl.obolibrary.org/obo/CL_0000670	primordial germ cell	http://purl.obolibrary.org/obo/CL_0000219	motile cell		
http://purl.obolibrary.org/obo/CL_0000134	mesenchymal stem cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000354	blastemal cell	http://purl.obolibrary.org/obo/CL_0000048	multi fate stem cell		
http://purl.obolibrary.org/obo/CL_0000355	multi-potent skeletal muscle stem cell	http://purl.obolibrary.org/obo/CL_0000188	cell of skeletal muscle		
http://purl.obolibrary.org/obo/CL_0002183	stem cell of gastric gland	http://purl.obolibrary.org/obo/CL_0002178	epithelial cell of stomach		
http://purl.obolibrary.org/obo/CL_0002195	hepatic stem cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002250	intestinal crypt stem cell	http://purl.obolibrary.org/obo/CL_0002563	intestinal epithelial cell		
http://purl.obolibrary.org/obo/CL_0002339	prostate stem cell	http://purl.obolibrary.org/obo/CL_0002341	basal cell of prostate epithelium		
http://purl.obolibrary.org/obo/CL_0005020	lymphangioblast	http://purl.obolibrary.org/obo/CL_4033054	perivascular cell		
http://purl.obolibrary.org/obo/CL_0005026	hepatoblast	http://purl.obolibrary.org/obo/CL_0000048	multi fate stem cell		
http://purl.obolibrary.org/obo/CL_0011012	neural crest cell	http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_0001059	common myeloid progenitor, CD34-positive	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0002005	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell	http://purl.obolibrary.org/obo/CL_0000050	megakaryocyte-erythroid progenitor cell		
http://purl.obolibrary.org/obo/CL_0002006	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell	http://purl.obolibrary.org/obo/CL_0000050	megakaryocyte-erythroid progenitor cell		
http://purl.obolibrary.org/obo/CL_0001021	CD34-positive, CD38-positive common lymphoid progenitor	http://purl.obolibrary.org/obo/CL_0000995	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor		
http://purl.obolibrary.org/obo/CL_0001025	Kit-positive, Sca1-positive common lymphoid progenitor	http://purl.obolibrary.org/obo/CL_0001030	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor		
http://purl.obolibrary.org/obo/CL_0001027	CD7-negative lymphoid progenitor cell	http://purl.obolibrary.org/obo/CL_0001012	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor		
http://purl.obolibrary.org/obo/CL_0001028	CD7-positive lymphoid progenitor cell	http://purl.obolibrary.org/obo/CL_0000051	common lymphoid progenitor		
http://purl.obolibrary.org/obo/CL_0000352	epiblast cell	http://purl.obolibrary.org/obo/CL_0000052	totipotent stem cell		
http://purl.obolibrary.org/obo/CL_0000514	smooth muscle myoblast	http://purl.obolibrary.org/obo/CL_0000056	myoblast		
http://purl.obolibrary.org/obo/CL_0000515	skeletal muscle myoblast	http://purl.obolibrary.org/obo/CL_0000056	myoblast		
http://purl.obolibrary.org/obo/CL_0010021	cardiac myoblast	http://purl.obolibrary.org/obo/CL_0000056	myoblast		
http://purl.obolibrary.org/obo/CL_4052030	adventitial fibroblast	http://purl.obolibrary.org/obo/CL_0002503	adventitial cell		
http://purl.obolibrary.org/obo/CL_0000005	neural crest derived fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0000432	reticular cell	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0002240	marrow fibroblast	http://purl.obolibrary.org/obo/CL_0010001	stromal cell of bone marrow		
http://purl.obolibrary.org/obo/CL_0002548	fibroblast of cardiac tissue	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_0002549	fibroblast of choroid plexus	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0002550	fibroblast of the conjunctiva	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0002552	fibroblast of gingiva	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0002553	fibroblast of lung	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0002554	fibroblast of lymphatic vessel	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0002555	fibroblast of mammary gland	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0002556	fibroblast of periodontium	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0002557	fibroblast of pulmonary artery	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_1000303	fibroblast of areolar connective tissue	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_1000307	fibroblast of dense regular elastic tissue	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_1000692	kidney interstitial fibroblast	http://purl.obolibrary.org/obo/CL_1000500	kidney interstitial cell		
http://purl.obolibrary.org/obo/CL_1001609	muscle fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_2000042	embryonic fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_2000051	splenic fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_2000063	ovarian fibroblast	http://purl.obolibrary.org/obo/CL_0002132	stromal cell of ovary		
http://purl.obolibrary.org/obo/CL_2000068	pericardium fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_2000069	gallbladder fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_0009100	hepatic portal fibroblast	http://purl.obolibrary.org/obo/CL_0000057	fibroblast		
http://purl.obolibrary.org/obo/CL_2000057	femoral osteoblast	http://purl.obolibrary.org/obo/CL_0001035	bone cell		
http://purl.obolibrary.org/obo/CL_2000058	calvarial osteoblast	http://purl.obolibrary.org/obo/CL_0000062	osteoblast		
http://purl.obolibrary.org/obo/CL_0000067	ciliated epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000847	ciliated olfactory receptor neuron	http://purl.obolibrary.org/obo/CL_0000207	olfactory receptor cell		
http://purl.obolibrary.org/obo/CL_0000706	choroid plexus epithelial cell	http://purl.obolibrary.org/obo/CL_0000239	brush border epithelial cell		
http://purl.obolibrary.org/obo/CL_1100001	secretory epithelial cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000068	duct epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000075	columnar/cuboidal epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000098	sensory epithelial cell	http://purl.obolibrary.org/obo/CL_0000197	sensory receptor cell		
http://purl.obolibrary.org/obo/CL_0000244	transitional epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002204	tuft cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002222	vertebrate lens cell	http://purl.obolibrary.org/obo/CL_0000306	crystallin accumulating cell		
http://purl.obolibrary.org/obo/CL_0002327	mammary gland epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002518	kidney epithelial cell	http://purl.obolibrary.org/obo/CL_1000497	kidney cell		
http://purl.obolibrary.org/obo/CL_0002536	epithelial cell of amnion	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0002577	placental epithelial cell	http://purl.obolibrary.org/obo/CL_0000349	extraembryonic cell		
http://purl.obolibrary.org/obo/CL_0002586	retinal pigment epithelial cell	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		
http://purl.obolibrary.org/obo/CL_0005006	ionocyte	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_1000296	epithelial cell of urethra	http://purl.obolibrary.org/obo/CL_1001320	urethra cell		
http://purl.obolibrary.org/obo/CL_1000415	epithelial cell of gallbladder	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_1000432	conjunctival epithelial cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_1000433	epithelial cell of lacrimal canaliculus	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_1000434	epithelial cell of external acoustic meatus	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_7770004	suprabasal cell	http://purl.obolibrary.org/obo/CL_0000066	epithelial cell		
http://purl.obolibrary.org/obo/CL_0000065	ependymal cell	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0005012	multiciliated epithelial cell	http://purl.obolibrary.org/obo/CL_0000075	columnar/cuboidal epithelial cell		
http://purl.obolibrary.org/obo/CL_0000069	branched duct epithelial cell	http://purl.obolibrary.org/obo/CL_0000068	duct epithelial cell		
http://purl.obolibrary.org/obo/CL_0000072	non-branched duct epithelial cell	http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002236	basal epithelial cell of prostatic duct	http://purl.obolibrary.org/obo/CL_0002341	basal cell of prostate epithelium		
http://purl.obolibrary.org/obo/CL_0002625	seminiferous tubule epithelial cell	http://purl.obolibrary.org/obo/CL_0000077	mesothelial cell		
http://purl.obolibrary.org/obo/CL_1000419	myoepithelial cell of lactiferous duct	http://purl.obolibrary.org/obo/CL_0002324	basal-myoepithelial cell of mammary gland		
http://purl.obolibrary.org/obo/CL_1001597	seminal vesicle glandular cell	http://purl.obolibrary.org/obo/CL_0000150	glandular secretory epithelial cell		
http://purl.obolibrary.org/obo/CL_0000377	tracheoblast	http://purl.obolibrary.org/obo/CL_0000069	branched duct epithelial cell		
http://purl.obolibrary.org/obo/CL_0002079	pancreatic ductal cell	http://purl.obolibrary.org/obo/CL_1001433	epithelial cell of exocrine pancreas		
http://purl.obolibrary.org/obo/CL_1000322	pancreatic goblet cell	http://purl.obolibrary.org/obo/CL_1001599	pancreas exocrine glandular cell		
http://purl.obolibrary.org/obo/CL_0002262	endothelial cell of sinusoid	http://purl.obolibrary.org/obo/CL_0000071	blood vessel endothelial cell		
http://purl.obolibrary.org/obo/CL_0002543	vein endothelial cell	http://purl.obolibrary.org/obo/CL_0000071	blood vessel endothelial cell		
http://purl.obolibrary.org/obo/CL_0002585	retinal blood vessel endothelial cell	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		
http://purl.obolibrary.org/obo/CL_0010006	cardiac blood vessel endothelial cell	http://purl.obolibrary.org/obo/CL_0010008	cardiac endothelial cell		
http://purl.obolibrary.org/obo/CL_1000412	endothelial cell of arteriole	http://purl.obolibrary.org/obo/CL_0000071	blood vessel endothelial cell		
http://purl.obolibrary.org/obo/CL_1000413	endothelial cell of artery	http://purl.obolibrary.org/obo/CL_0000071	blood vessel endothelial cell		
http://purl.obolibrary.org/obo/CL_1000414	endothelial cell of venule	http://purl.obolibrary.org/obo/CL_0000071	blood vessel endothelial cell		
http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_0000071	blood vessel endothelial cell		
http://purl.obolibrary.org/obo/CL_2000010	dermis blood vessel endothelial cell	http://purl.obolibrary.org/obo/CL_0000071	blood vessel endothelial cell		
http://purl.obolibrary.org/obo/CL_0002232	epithelial cell of prostatic duct	http://purl.obolibrary.org/obo/CL_0002231	epithelial cell of prostate		
http://purl.obolibrary.org/obo/CL_1000435	epithelial cell of lacrimal drainage system	http://purl.obolibrary.org/obo/CL_0000072	non-branched duct epithelial cell		
http://purl.obolibrary.org/obo/CL_1000454	kidney collecting duct epithelial cell	http://purl.obolibrary.org/obo/CL_1001225	kidney collecting duct cell		
http://purl.obolibrary.org/obo/CL_0000146	simple columnar epithelial cell	http://purl.obolibrary.org/obo/CL_0000075	columnar/cuboidal epithelial cell		
http://purl.obolibrary.org/obo/CL_0000185	myoepithelial cell	http://purl.obolibrary.org/obo/CL_0000183	contractile cell		
http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell	http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002075	brush cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0002204	tuft cell		
http://purl.obolibrary.org/obo/CL_0002224	lens epithelial cell	http://purl.obolibrary.org/obo/CL_0002222	vertebrate lens cell		
http://purl.obolibrary.org/obo/CL_0005009	renal principal cell	http://purl.obolibrary.org/obo/CL_0002518	kidney epithelial cell		
http://purl.obolibrary.org/obo/CL_0000077	mesothelial cell	http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000240	stratified squamous epithelial cell	http://purl.obolibrary.org/obo/CL_0000079	stratified epithelial cell		
http://purl.obolibrary.org/obo/CL_0000575	corneal epithelial cell	http://purl.obolibrary.org/obo/CL_0002159	general ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002062	pulmonary alveolar type 1 cell	http://purl.obolibrary.org/obo/CL_0000322	pulmonary alveolar epithelial cell		
http://purl.obolibrary.org/obo/CL_1001575	uterine cervix squamous cell	http://purl.obolibrary.org/obo/CL_0002535	epithelial cell of cervix		
http://purl.obolibrary.org/obo/CL_1001576	oral mucosa squamous cell	http://purl.obolibrary.org/obo/CL_0002251	epithelial cell of alimentary canal		
http://purl.obolibrary.org/obo/CL_1001577	tonsil squamous cell	http://purl.obolibrary.org/obo/CL_0002251	epithelial cell of alimentary canal		
http://purl.obolibrary.org/obo/CL_1000298	mesothelial cell of dura mater	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_1000444	mesothelial cell of anterior chamber of eye	http://purl.obolibrary.org/obo/CL_0000077	mesothelial cell		
http://purl.obolibrary.org/obo/CL_1000490	mesothelial cell of peritoneum	http://purl.obolibrary.org/obo/CL_0000077	mesothelial cell		
http://purl.obolibrary.org/obo/CL_1000491	mesothelial cell of pleura	http://purl.obolibrary.org/obo/CL_0000077	mesothelial cell		
http://purl.obolibrary.org/obo/CL_0008041	mesothelial cell of intestine	http://purl.obolibrary.org/obo/CL_0000077	mesothelial cell		
http://purl.obolibrary.org/obo/CL_0000237	keratinizing barrier epithelial cell	http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000446	chief cell of parathyroid gland	http://purl.obolibrary.org/obo/CL_1001593	parathyroid glandular cell		
http://purl.obolibrary.org/obo/CL_0000731	urothelial cell	http://purl.obolibrary.org/obo/CL_0000244	transitional epithelial cell		
http://purl.obolibrary.org/obo/CL_2000084	conjunctiva goblet cell	http://purl.obolibrary.org/obo/CL_1000432	conjunctival epithelial cell		
http://purl.obolibrary.org/obo/CL_2000001	peripheral blood mononuclear cell	http://purl.obolibrary.org/obo/CL_0000842	mononuclear leukocyte		
http://purl.obolibrary.org/obo/CL_0000094	granulocyte	http://purl.obolibrary.org/obo/CL_0000766	myeloid leukocyte		
http://purl.obolibrary.org/obo/CL_0000232	erythrocyte	http://purl.obolibrary.org/obo/CL_0000764	erythroid lineage cell		
http://purl.obolibrary.org/obo/CL_0000233	platelet	http://purl.obolibrary.org/obo/CL_0000763	myeloid cell		
http://purl.obolibrary.org/obo/CL_0000322	pulmonary alveolar epithelial cell	http://purl.obolibrary.org/obo/CL_0000082	epithelial cell of lung		
http://purl.obolibrary.org/obo/CL_0002205	brush cell of lobular bronchiole	http://purl.obolibrary.org/obo/CL_0002075	brush cell of tracheobronchial tree		
http://purl.obolibrary.org/obo/CL_0002206	brush cell of terminal bronchiole	http://purl.obolibrary.org/obo/CL_0002075	brush cell of tracheobronchial tree		
http://purl.obolibrary.org/obo/CL_1000143	lung goblet cell	http://purl.obolibrary.org/obo/CL_1000272	lung secretory cell		
http://purl.obolibrary.org/obo/CL_1000271	lung multiciliated epithelial cell	http://purl.obolibrary.org/obo/CL_4030034	respiratory tract multiciliated cell		
http://purl.obolibrary.org/obo/CL_0017000	pulmonary ionocyte	http://purl.obolibrary.org/obo/CL_0005006	ionocyte		
http://purl.obolibrary.org/obo/CL_4033007	brush cell of epithelium of lobar bronchus	http://purl.obolibrary.org/obo/CL_0002208	brush cell of bronchus		
http://purl.obolibrary.org/obo/CL_4033010	neuroendocrine cell of epithelium of lobar bronchus	http://purl.obolibrary.org/obo/CL_0008055	respiratory tract secretory epithelial cell		
http://purl.obolibrary.org/obo/CL_1001433	epithelial cell of exocrine pancreas	http://purl.obolibrary.org/obo/CL_0000083	epithelial cell of pancreas		
http://purl.obolibrary.org/obo/CL_0008024	pancreatic endocrine cell	http://purl.obolibrary.org/obo/CL_0000164	enteroendocrine cell		
http://purl.obolibrary.org/obo/CL_0000789	alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0000084	T cell		
http://purl.obolibrary.org/obo/CL_0002419	mature T cell	http://purl.obolibrary.org/obo/CL_0000084	T cell		
http://purl.obolibrary.org/obo/CL_0002420	immature T cell	http://purl.obolibrary.org/obo/CL_0000084	T cell		
http://purl.obolibrary.org/obo/CL_0009046	T cell of medullary sinus of lymph node	http://purl.obolibrary.org/obo/CL_0000084	T cell		
http://purl.obolibrary.org/obo/CL_0009051	T cell of anorectum	http://purl.obolibrary.org/obo/CL_0000084	T cell		
http://purl.obolibrary.org/obo/CL_0009031	T cell of appendix	http://purl.obolibrary.org/obo/CL_0000084	T cell		
http://purl.obolibrary.org/obo/CL_0000771	eosinophil	http://purl.obolibrary.org/obo/CL_0000094	granulocyte		
http://purl.obolibrary.org/obo/CL_0000775	neutrophil	http://purl.obolibrary.org/obo/CL_0000094	granulocyte		
http://purl.obolibrary.org/obo/CL_0000123	neuron associated cell (sensu Vertebrata)	http://purl.obolibrary.org/obo/CL_0000095	neuron associated cell		
http://purl.obolibrary.org/obo/CL_0000125	glial cell	http://purl.obolibrary.org/obo/CL_0000095	neuron associated cell		
http://purl.obolibrary.org/obo/CL_0000484	connective tissue type mast cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000209	taste receptor cell	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002167	olfactory epithelial cell	http://purl.obolibrary.org/obo/CL_0002631	epithelial cell of upper respiratory tract		
http://purl.obolibrary.org/obo/CL_0002491	auditory epithelial cell	http://purl.obolibrary.org/obo/CL_0000098	sensory epithelial cell		
http://purl.obolibrary.org/obo/CL_0000103	bipolar neuron	http://purl.obolibrary.org/obo/CL_0000099	interneuron		
http://purl.obolibrary.org/obo/CL_0000397	ganglion interneuron	http://purl.obolibrary.org/obo/CL_0000099	interneuron		
http://purl.obolibrary.org/obo/CL_0000498	inhibitory interneuron	http://purl.obolibrary.org/obo/CL_0000099	interneuron		
http://purl.obolibrary.org/obo/CL_0005000	spinal cord interneuron	http://purl.obolibrary.org/obo/CL_0000099	interneuron		
http://purl.obolibrary.org/obo/CL_1001434	olfactory bulb interneuron	http://purl.obolibrary.org/obo/CL_0000101	sensory neuron		
http://purl.obolibrary.org/obo/CL_0005024	somatomotor neuron	http://purl.obolibrary.org/obo/CL_0000108	cholinergic neuron		
http://purl.obolibrary.org/obo/CL_0011001	spinal cord motor neuron	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000006	neuronal receptor cell	http://purl.obolibrary.org/obo/CL_0000197	sensory receptor cell		
http://purl.obolibrary.org/obo/CL_0000199	mechanoreceptor cell	http://purl.obolibrary.org/obo/CL_0000101	sensory neuron		
http://purl.obolibrary.org/obo/CL_0000531	primary sensory neuron (sensu Teleostei)	http://purl.obolibrary.org/obo/CL_0000530	primary neuron (sensu Teleostei)		
http://purl.obolibrary.org/obo/CL_3000004	peripheral sensory neuron	http://purl.obolibrary.org/obo/CL_2000032	peripheral nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000235	macrophage	http://purl.obolibrary.org/obo/CL_0000766	myeloid leukocyte		
http://purl.obolibrary.org/obo/CL_0000451	dendritic cell	http://purl.obolibrary.org/obo/CL_0000145	professional antigen presenting cell		
http://purl.obolibrary.org/obo/CL_0000576	monocyte	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000131	gut endothelial cell	http://purl.obolibrary.org/obo/CL_0000115	endothelial cell		
http://purl.obolibrary.org/obo/CL_0000666	fenestrated endothelial cell	http://purl.obolibrary.org/obo/CL_0000115	endothelial cell		
http://purl.obolibrary.org/obo/CL_0002139	endothelial cell of vascular tree	http://purl.obolibrary.org/obo/CL_0000115	endothelial cell		
http://purl.obolibrary.org/obo/CL_0002653	squamous endothelial cell	http://purl.obolibrary.org/obo/CL_0000115	endothelial cell		
http://purl.obolibrary.org/obo/CL_0010008	cardiac endothelial cell	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_1000708	ureter adventitial cell	http://purl.obolibrary.org/obo/CL_1000601	ureteral cell		
http://purl.obolibrary.org/obo/CL_1001602	cerebral cortex endothelial cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_2000053	splenic endothelial cell	http://purl.obolibrary.org/obo/CL_0000115	endothelial cell		
http://purl.obolibrary.org/obo/CL_0009092	endothelial cell of placenta	http://purl.obolibrary.org/obo/CL_0000115	endothelial cell		
http://purl.obolibrary.org/obo/CL_0009095	endothelial cell of uterus	http://purl.obolibrary.org/obo/CL_0000115	endothelial cell		
http://purl.obolibrary.org/obo/CL_2000086	neocortex basket cell	http://purl.obolibrary.org/obo/CL_0010011	cerebral cortex GABAergic interneuron		
http://purl.obolibrary.org/obo/CL_2000087	dentate gyrus of hippocampal formation basket cell	http://purl.obolibrary.org/obo/CL_4023062	dentate gyrus neuron		
http://purl.obolibrary.org/obo/CL_2000088	Ammon's horn basket cell	http://purl.obolibrary.org/obo/CL_1001569	hippocampal interneuron		
http://purl.obolibrary.org/obo/CL_0000626	olfactory granule cell	http://purl.obolibrary.org/obo/CL_1001434	olfactory bulb interneuron		
http://purl.obolibrary.org/obo/CL_0001031	cerebellar granule cell	http://purl.obolibrary.org/obo/CL_2000028	cerebellum glutamatergic neuron		
http://purl.obolibrary.org/obo/CL_0001032	cortical granule cell	http://purl.obolibrary.org/obo/CL_0010012	cerebral cortex neuron		
http://purl.obolibrary.org/obo/CL_0002453	oligodendrocyte precursor cell	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_4023059	committed oligodendrocyte precursor	http://purl.obolibrary.org/obo/CL_0000123	neuron associated cell (sensu Vertebrata)		
http://purl.obolibrary.org/obo/CL_0000126	macroglial cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_0000681	radial glial cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_0002573	Schwann cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_0002576	perineurial cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0010020	cardiac glial cell	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_1001579	cerebral cortex glial cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_1001581	lateral ventricle glial cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_4023154	myelinating glial cell	http://purl.obolibrary.org/obo/CL_0000125	glial cell		
http://purl.obolibrary.org/obo/CL_0000127	astrocyte	http://purl.obolibrary.org/obo/CL_0000126	macroglial cell		
http://purl.obolibrary.org/obo/CL_2000005	brain macroglial cell	http://purl.obolibrary.org/obo/CL_0000126	macroglial cell		
http://purl.obolibrary.org/obo/CL_0002603	astrocyte of the cerebellum	http://purl.obolibrary.org/obo/CL_2000005	brain macroglial cell		
http://purl.obolibrary.org/obo/CL_0002606	astrocyte of the spinal cord	http://purl.obolibrary.org/obo/CL_0000127	astrocyte		
http://purl.obolibrary.org/obo/CL_4033015	retinal astrocyte	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		
http://purl.obolibrary.org/obo/CL_1001572	colon endothelial cell	http://purl.obolibrary.org/obo/CL_0000131	gut endothelial cell		
http://purl.obolibrary.org/obo/CL_0000566	angioblastic mesenchymal cell	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0002537	amnion mesenchymal stem cell	http://purl.obolibrary.org/obo/CL_0000134	mesenchymal stem cell		
http://purl.obolibrary.org/obo/CL_0002540	mesenchymal stem cell of the bone marrow	http://purl.obolibrary.org/obo/CL_0002092	bone marrow cell		
http://purl.obolibrary.org/obo/CL_0002541	chorionic membrane mesenchymal stem cell	http://purl.obolibrary.org/obo/CL_0000134	mesenchymal stem cell		
http://purl.obolibrary.org/obo/CL_0002569	mesenchymal stem cell of umbilical cord	http://purl.obolibrary.org/obo/CL_0000349	extraembryonic cell		
http://purl.obolibrary.org/obo/CL_0002570	mesenchymal stem cell of adipose tissue	http://purl.obolibrary.org/obo/CL_0000134	mesenchymal stem cell		
http://purl.obolibrary.org/obo/CL_0002571	hepatic mesenchymal stem cell	http://purl.obolibrary.org/obo/CL_0002195	hepatic stem cell		
http://purl.obolibrary.org/obo/CL_0002572	vertebral mesenchymal stem cell	http://purl.obolibrary.org/obo/CL_0001035	bone cell		
http://purl.obolibrary.org/obo/CL_2000061	placental amniotic mesenchymal stromal cell	http://purl.obolibrary.org/obo/CL_0000134	mesenchymal stem cell		
http://purl.obolibrary.org/obo/CL_0002333	neural crest derived adipocyte	http://purl.obolibrary.org/obo/CL_0000136	adipocyte		
http://purl.obolibrary.org/obo/CL_0002521	subcutaneous adipocyte	http://purl.obolibrary.org/obo/CL_0000136	adipocyte		
http://purl.obolibrary.org/obo/CL_0002615	adipocyte of omentum tissue	http://purl.obolibrary.org/obo/CL_0000136	adipocyte		
http://purl.obolibrary.org/obo/CL_0002616	perirenal adipocyte	http://purl.obolibrary.org/obo/CL_0000136	adipocyte		
http://purl.obolibrary.org/obo/CL_0002617	adipocyte of breast	http://purl.obolibrary.org/obo/CL_0000136	adipocyte		
http://purl.obolibrary.org/obo/CL_1000309	epicardial adipocyte	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_1001607	articular chondrocyte	http://purl.obolibrary.org/obo/CL_0000138	chondrocyte		
http://purl.obolibrary.org/obo/CL_0000785	mature B cell	http://purl.obolibrary.org/obo/CL_0001201	B cell, CD19-positive		
http://purl.obolibrary.org/obo/CL_0000149	visual pigment cell	http://purl.obolibrary.org/obo/CL_0000147	pigment cell		
http://purl.obolibrary.org/obo/CL_0002484	epithelial melanocyte	http://purl.obolibrary.org/obo/CL_0000148	melanocyte		
http://purl.obolibrary.org/obo/CL_0002485	retinal melanocyte	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		
http://purl.obolibrary.org/obo/CL_1000391	melanocyte of eyelid	http://purl.obolibrary.org/obo/CL_0000148	melanocyte		
http://purl.obolibrary.org/obo/CL_1000458	melanocyte of skin	http://purl.obolibrary.org/obo/CL_0000148	melanocyte		
http://purl.obolibrary.org/obo/CL_4030000	choroidal melanocyte	http://purl.obolibrary.org/obo/CL_0000148	melanocyte		
http://purl.obolibrary.org/obo/CL_0017002	prostate neuroendocrine cell	http://purl.obolibrary.org/obo/CL_0000165	neuroendocrine cell		
http://purl.obolibrary.org/obo/CL_0000317	sebocyte	http://purl.obolibrary.org/obo/CL_2000021	sebaceous gland cell		
http://purl.obolibrary.org/obo/CL_0000622	acinar cell	http://purl.obolibrary.org/obo/CL_0000154	protein secreting cell		
http://purl.obolibrary.org/obo/CL_0000637	chromophil cell of anterior pituitary gland	http://purl.obolibrary.org/obo/CL_2000004	pituitary gland cell		
http://purl.obolibrary.org/obo/CL_0000652	pinealocyte	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0002257	epithelial cell of thyroid gland	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002313	endocrine-paracrine cell of prostate gland	http://purl.obolibrary.org/obo/CL_0002159	general ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002656	glandular endometrial unciliated epithelial cell	http://purl.obolibrary.org/obo/CL_0009084	glandular epithelial cell of endometrium		
http://purl.obolibrary.org/obo/CL_0002657	glandular cell of esophagus	http://purl.obolibrary.org/obo/CL_0002252	epithelial cell of esophagus		
http://purl.obolibrary.org/obo/CL_0002658	glandular cell of the large intestine	http://purl.obolibrary.org/obo/CL_0002253	epithelial cell of large intestine		
http://purl.obolibrary.org/obo/CL_0002659	glandular epithelial cell of stomach	http://purl.obolibrary.org/obo/CL_0002178	epithelial cell of stomach		
http://purl.obolibrary.org/obo/CL_1000426	chromaffin cell of adrenal gland	http://purl.obolibrary.org/obo/CL_0000166	chromaffin cell		
http://purl.obolibrary.org/obo/CL_1001586	mammary gland glandular cell	http://purl.obolibrary.org/obo/CL_0002327	mammary gland epithelial cell		
http://purl.obolibrary.org/obo/CL_1001592	gallbladder glandular cell	http://purl.obolibrary.org/obo/CL_1000415	epithelial cell of gallbladder		
http://purl.obolibrary.org/obo/CL_1001593	parathyroid glandular cell	http://purl.obolibrary.org/obo/CL_0002260	epithelial cell of parathyroid gland		
http://purl.obolibrary.org/obo/CL_1001596	salivary gland glandular cell	http://purl.obolibrary.org/obo/CL_0009005	salivary gland cell		
http://purl.obolibrary.org/obo/CL_1001599	pancreas exocrine glandular cell	http://purl.obolibrary.org/obo/CL_1001433	epithelial cell of exocrine pancreas		
http://purl.obolibrary.org/obo/CL_1001601	adrenal gland glandular cell	http://purl.obolibrary.org/obo/CL_0000150	glandular secretory epithelial cell		
http://purl.obolibrary.org/obo/CL_4033037	mucus secreting cell of tracheobronchial tree submucosal gland	http://purl.obolibrary.org/obo/CL_0008055	respiratory tract secretory epithelial cell		
http://purl.obolibrary.org/obo/CL_0000108	cholinergic neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0000152	exocrine cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000154	protein secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000157	surfactant secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000159	seromucus secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000163	endocrine cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000174	steroid hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000177	testosterone secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000314	milk secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000438	luteinizing hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000447	carbohydrate secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000457	biogenic amine secreting cell	http://purl.obolibrary.org/obo/CL_0000151	secretory cell		
http://purl.obolibrary.org/obo/CL_0000617	GABAergic neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_1000272	lung secretory cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000155	peptic cell	http://purl.obolibrary.org/obo/CL_0002659	glandular epithelial cell of stomach		
http://purl.obolibrary.org/obo/CL_0000162	parietal cell	http://purl.obolibrary.org/obo/CL_0002659	glandular epithelial cell of stomach		
http://purl.obolibrary.org/obo/CL_1000314	gastric cardiac gland goblet cell	http://purl.obolibrary.org/obo/CL_1000313	gastric goblet cell		
http://purl.obolibrary.org/obo/CL_1000323	pyloric gastric gland goblet cell	http://purl.obolibrary.org/obo/CL_1000313	gastric goblet cell		
http://purl.obolibrary.org/obo/CL_4033005	serous secreting cell of bronchus submucosal gland	http://purl.obolibrary.org/obo/CL_0019001	tracheobronchial serous cell		
http://purl.obolibrary.org/obo/CL_0000138	chondrocyte	http://purl.obolibrary.org/obo/CL_0007001	skeletogenic cell		
http://purl.obolibrary.org/obo/CL_0000168	insulin secreting cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000439	prolactin secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000511	androgen binding protein secreting cell	http://purl.obolibrary.org/obo/CL_0000154	protein secreting cell		
http://purl.obolibrary.org/obo/CL_0000158	club cell	http://purl.obolibrary.org/obo/CL_0008055	respiratory tract secretory epithelial cell		
http://purl.obolibrary.org/obo/CL_0000313	serous secreting cell	http://purl.obolibrary.org/obo/CL_0000159	seromucus secreting cell		
http://purl.obolibrary.org/obo/CL_0000319	mucus secreting cell	http://purl.obolibrary.org/obo/CL_0000159	seromucus secreting cell		
http://purl.obolibrary.org/obo/CL_0002370	respiratory tract goblet cell	http://purl.obolibrary.org/obo/CL_0008055	respiratory tract secretory epithelial cell		
http://purl.obolibrary.org/obo/CL_1000313	gastric goblet cell	http://purl.obolibrary.org/obo/CL_0002180	mucous cell of stomach		
http://purl.obolibrary.org/obo/CL_0000570	parafollicular cell	http://purl.obolibrary.org/obo/CL_0002257	epithelial cell of thyroid gland		
http://purl.obolibrary.org/obo/CL_0002074	myocardial endocrine cell	http://purl.obolibrary.org/obo/CL_0002086	specialized cardiac myocyte		
http://purl.obolibrary.org/obo/CL_0002258	thyroid follicular cell	http://purl.obolibrary.org/obo/CL_0002257	epithelial cell of thyroid gland		
http://purl.obolibrary.org/obo/CL_0000502	type D enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0000172	somatostatin secreting cell		
http://purl.obolibrary.org/obo/CL_0000508	type G enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0000509	gastrin secreting cell		
http://purl.obolibrary.org/obo/CL_0000696	PP cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0002067	type A enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0000170	glucagon secreting cell		
http://purl.obolibrary.org/obo/CL_1001516	intestinal enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0002563	intestinal epithelial cell		
http://purl.obolibrary.org/obo/CL_1001517	stomach enteroendocrine cell	http://purl.obolibrary.org/obo/CL_0002178	epithelial cell of stomach		
http://purl.obolibrary.org/obo/CL_0000568	amine precursor uptake and decarboxylation cell	http://purl.obolibrary.org/obo/CL_0000165	neuroendocrine cell		
http://purl.obolibrary.org/obo/CL_0011111	hypothalamic gonadotropin-releasing hormone neuron	http://purl.obolibrary.org/obo/CL_0012001	neuron of the forebrain		
http://purl.obolibrary.org/obo/CL_1000222	stomach neuroendocrine cell	http://purl.obolibrary.org/obo/CL_1001517	stomach enteroendocrine cell		
http://purl.obolibrary.org/obo/CL_1000465	chromaffin cell of ovary	http://purl.obolibrary.org/obo/CL_0000166	chromaffin cell		
http://purl.obolibrary.org/obo/CL_0000170	glucagon secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000172	somatostatin secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000295	somatotropin secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000440	melanocyte stimulating hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000443	calcitonin secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000467	adrenocorticotropic hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000507	endorphin secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000509	gastrin secreting cell	http://purl.obolibrary.org/obo/CL_0000167	peptide hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000169	type B pancreatic cell	http://purl.obolibrary.org/obo/CL_0008024	pancreatic endocrine cell		
http://purl.obolibrary.org/obo/CL_0000179	progesterone secreting cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000456	mineralocorticoid secreting cell	http://purl.obolibrary.org/obo/CL_0000174	steroid hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000460	glucocorticoid secreting cell	http://purl.obolibrary.org/obo/CL_0000174	steroid hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0000593	androgen secreting cell	http://purl.obolibrary.org/obo/CL_0000174	steroid hormone secreting cell		
http://purl.obolibrary.org/obo/CL_0002097	cortical cell of adrenal gland	http://purl.obolibrary.org/obo/CL_1001601	adrenal gland glandular cell		
http://purl.obolibrary.org/obo/CL_0000175	luteal cell	http://purl.obolibrary.org/obo/CL_0000179	progesterone secreting cell		
http://purl.obolibrary.org/obo/CL_0000186	myofibroblast cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000669	pericyte	http://purl.obolibrary.org/obo/CL_0008034	mural cell		
http://purl.obolibrary.org/obo/CL_4033021	myoepithelial cell of trachea gland	http://purl.obolibrary.org/obo/CL_0000307	tracheal epithelial cell		
http://purl.obolibrary.org/obo/CL_0002324	basal-myoepithelial cell of mammary gland	http://purl.obolibrary.org/obo/CL_0002327	mammary gland epithelial cell		
http://purl.obolibrary.org/obo/CL_0002481	peritubular myoid cell	http://purl.obolibrary.org/obo/CL_0002625	seminiferous tubule epithelial cell		
http://purl.obolibrary.org/obo/CL_1000417	myoepithelial cell of sweat gland	http://purl.obolibrary.org/obo/CL_1000448	epithelial cell of sweat gland		
http://purl.obolibrary.org/obo/CL_1000445	myoepithelial cell of dilator pupillae	http://purl.obolibrary.org/obo/CL_0000185	myoepithelial cell		
http://purl.obolibrary.org/obo/CL_4033003	myoepithelial cell of bronchus submucosal gland	http://purl.obolibrary.org/obo/CL_0002328	bronchial epithelial cell		
http://purl.obolibrary.org/obo/CL_0000737	striated muscle cell	http://purl.obolibrary.org/obo/CL_0000187	muscle cell		
http://purl.obolibrary.org/obo/CL_0008000	non-striated muscle cell	http://purl.obolibrary.org/obo/CL_0000187	muscle cell		
http://purl.obolibrary.org/obo/CL_0008007	visceral muscle cell	http://purl.obolibrary.org/obo/CL_0000187	muscle cell		
http://purl.obolibrary.org/obo/CL_0008002	skeletal muscle fiber	http://purl.obolibrary.org/obo/CL_0002372	myotube		
http://purl.obolibrary.org/obo/CL_0008017	adult skeletal muscle myoblast	http://purl.obolibrary.org/obo/CL_0000515	skeletal muscle myoblast		
http://purl.obolibrary.org/obo/CL_0011027	skeletal muscle fibroblast	http://purl.obolibrary.org/obo/CL_1001609	muscle fibroblast		
http://purl.obolibrary.org/obo/CL_0000027	smooth muscle cell neural crest derived	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0000358	sphincter associated smooth muscle cell	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0000359	vascular associated smooth muscle cell	http://purl.obolibrary.org/obo/CL_4033054	perivascular cell		
http://purl.obolibrary.org/obo/CL_0002504	enteric smooth muscle cell	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002597	smooth muscle cell of bladder	http://purl.obolibrary.org/obo/CL_1001319	bladder cell		
http://purl.obolibrary.org/obo/CL_0002599	smooth muscle cell of the esophagus	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002601	uterine smooth muscle cell	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_1000443	ciliary muscle cell	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_1000487	smooth muscle cell of prostate	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_1000702	kidney pelvis smooth muscle cell	http://purl.obolibrary.org/obo/CL_1000505	kidney pelvis cell		
http://purl.obolibrary.org/obo/CL_1000979	ureter smooth muscle cell	http://purl.obolibrary.org/obo/CL_1000601	ureteral cell		
http://purl.obolibrary.org/obo/CL_0019019	tracheobronchial smooth muscle cell	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0009093	smooth muscle cell of placenta	http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0000206	chemoreceptor cell	http://purl.obolibrary.org/obo/CL_0000197	sensory receptor cell		
http://purl.obolibrary.org/obo/CL_0000200	touch receptor cell	http://purl.obolibrary.org/obo/CL_0000199	mechanoreceptor cell		
http://purl.obolibrary.org/obo/CL_4033049	taste receptor cell of tongue	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000488	visible light photoreceptor cell	http://purl.obolibrary.org/obo/CL_0000210	photoreceptor cell		
http://purl.obolibrary.org/obo/CL_0000393	electrically responsive cell	http://purl.obolibrary.org/obo/CL_0000211	electrically active cell		
http://purl.obolibrary.org/obo/CL_0000404	electrically signaling cell	http://purl.obolibrary.org/obo/CL_0000211	electrically active cell		
http://purl.obolibrary.org/obo/CL_0002301	type B synovial cell	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0000234	phagocyte	http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell		
http://purl.obolibrary.org/obo/CL_0000333	migratory neural crest cell	http://purl.obolibrary.org/obo/CL_0011012	neural crest cell		
http://purl.obolibrary.org/obo/CL_0000114	surface ectodermal cell	http://purl.obolibrary.org/obo/CL_0000221	ectodermal cell		
http://purl.obolibrary.org/obo/CL_0000133	neurectodermal cell	http://purl.obolibrary.org/obo/CL_0000221	ectodermal cell		
http://purl.obolibrary.org/obo/CL_0002546	embryonic blood vessel endothelial progenitor cell	http://purl.obolibrary.org/obo/CL_0000222	mesodermal cell		
http://purl.obolibrary.org/obo/CL_0011007	paraxial cell	http://purl.obolibrary.org/obo/CL_0000222	mesodermal cell		
http://purl.obolibrary.org/obo/CL_0000595	enucleate erythrocyte	http://purl.obolibrary.org/obo/CL_0000232	erythrocyte		
http://purl.obolibrary.org/obo/CL_0002422	enucleated reticulocyte	http://purl.obolibrary.org/obo/CL_0000558	reticulocyte		
http://purl.obolibrary.org/obo/CL_0000762	nucleated thrombocyte	http://purl.obolibrary.org/obo/CL_0000763	myeloid cell		
http://purl.obolibrary.org/obo/CL_0000828	thromboblast	http://purl.obolibrary.org/obo/CL_0000839	myeloid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0000842	mononuclear leukocyte	http://purl.obolibrary.org/obo/CL_0000738	leukocyte		
http://purl.obolibrary.org/obo/CL_0000227	binucleate cell	http://purl.obolibrary.org/obo/CL_0000228	multinucleate cell		
http://purl.obolibrary.org/obo/CL_0000562	nucleate erythrocyte	http://purl.obolibrary.org/obo/CL_0002242	nucleate cell		
http://purl.obolibrary.org/obo/CL_0000518	phagocyte (sensu Vertebrata)	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000864	tissue-resident macrophage	http://purl.obolibrary.org/obo/CL_0000235	macrophage		
http://purl.obolibrary.org/obo/CL_1001603	lung macrophage	http://purl.obolibrary.org/obo/CL_0000235	macrophage		
http://purl.obolibrary.org/obo/CL_0009038	colon macrophage	http://purl.obolibrary.org/obo/CL_0000235	macrophage		
http://purl.obolibrary.org/obo/CL_0009047	macrophage of medullary sinus of lymph node	http://purl.obolibrary.org/obo/CL_0000235	macrophage		
http://purl.obolibrary.org/obo/CL_0009048	anorectum macrophage	http://purl.obolibrary.org/obo/CL_0000235	macrophage		
http://purl.obolibrary.org/obo/CL_0009036	appendix macrophage	http://purl.obolibrary.org/obo/CL_0000235	macrophage		
http://purl.obolibrary.org/obo/CL_0009050	B cell of anorectum	http://purl.obolibrary.org/obo/CL_0000236	B cell		
http://purl.obolibrary.org/obo/CL_0001201	B cell, CD19-positive	http://purl.obolibrary.org/obo/CL_0001200	lymphocyte of B lineage, CD19-positive		
http://purl.obolibrary.org/obo/CL_0009032	B cell of appendix	http://purl.obolibrary.org/obo/CL_0000236	B cell		
http://purl.obolibrary.org/obo/CL_0009045	B cell of medullary sinus of lymph node	http://purl.obolibrary.org/obo/CL_0000236	B cell		
http://purl.obolibrary.org/obo/CL_0000312	keratinocyte	http://purl.obolibrary.org/obo/CL_0000237	keratinizing barrier epithelial cell		
http://purl.obolibrary.org/obo/CL_0002170	keratinized cell of the oral mucosa	http://purl.obolibrary.org/obo/CL_0002336	buccal mucosa cell		
http://purl.obolibrary.org/obo/CL_0002637	keratinized epithelial cell of the anal canal	http://purl.obolibrary.org/obo/CL_0002634	epithelial cell of anal column		
http://purl.obolibrary.org/obo/CL_0002307	brush border cell of the proximal tubule	http://purl.obolibrary.org/obo/CL_0002306	epithelial cell of proximal tubule		
http://purl.obolibrary.org/obo/CL_0002621	gingival epithelial cell	http://purl.obolibrary.org/obo/CL_1001576	oral mucosa squamous cell		
http://purl.obolibrary.org/obo/CL_1001578	vagina squamous cell	http://purl.obolibrary.org/obo/CL_0000240	stratified squamous epithelial cell		
http://purl.obolibrary.org/obo/CL_0009066	stratified squamous epithelial cell of anal canal	http://purl.obolibrary.org/obo/CL_0002253	epithelial cell of large intestine		
http://purl.obolibrary.org/obo/CL_4030031	interstitial cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000021	female germ cell	http://purl.obolibrary.org/obo/CL_0000586	germ cell		
http://purl.obolibrary.org/obo/CL_0000030	glioblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000031	neuroblast (sensu Vertebrata)	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000036	epithelial fate stem cell	http://purl.obolibrary.org/obo/CL_0000723	somatic stem cell		
http://purl.obolibrary.org/obo/CL_0000037	hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000064	ciliated cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000066	epithelial cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000080	circulating cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000188	cell of skeletal muscle	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000221	ectodermal cell	http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_0000222	mesodermal cell	http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_0000223	endodermal cell	http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_0000226	single nucleate cell	http://purl.obolibrary.org/obo/CL_0002242	nucleate cell		
http://purl.obolibrary.org/obo/CL_0000228	multinucleate cell	http://purl.obolibrary.org/obo/CL_0002242	nucleate cell		
http://purl.obolibrary.org/obo/CL_0000349	extraembryonic cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000521	fungal cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0000541	melanoblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000680	muscle precursor cell	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0001035	bone cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002174	follicular cell of ovary	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002319	neural cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002494	cardiocyte	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0002522	renal filtration cell	http://purl.obolibrary.org/obo/CL_0000424	excretory cell		
http://purl.obolibrary.org/obo/CL_0002559	hair follicle cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_0007000	preameloblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0007002	precementoblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0007003	preodontoblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_1000428	stem cell of epidermis	http://purl.obolibrary.org/obo/CL_0000723	somatic stem cell		
http://purl.obolibrary.org/obo/CL_1000600	lower urinary tract cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_1000601	ureteral cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_4033066	pre-granulosa cell	http://purl.obolibrary.org/obo/CL_0000630	supporting cell		
http://purl.obolibrary.org/obo/CL_0009116	progenitor cell of mammary luminal epithelium	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_2000020	inner cell mass cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_2000021	sebaceous gland cell	http://purl.obolibrary.org/obo/CL_0000255	eukaryotic cell		
http://purl.obolibrary.org/obo/CL_2000019	compound eye photoreceptor cell	http://purl.obolibrary.org/obo/CL_0000287	eye photoreceptor cell		
http://purl.obolibrary.org/obo/CL_0002312	somatotroph	http://purl.obolibrary.org/obo/CL_0000638	acidophil cell of pars distalis of adenohypophysis		
http://purl.obolibrary.org/obo/CL_4033020	mucus secreting cell of trachea gland	http://purl.obolibrary.org/obo/CL_4033037	mucus secreting cell of tracheobronchial tree submucosal gland		
http://purl.obolibrary.org/obo/CL_0002207	brush cell of trachea	http://purl.obolibrary.org/obo/CL_0002075	brush cell of tracheobronchial tree		
http://purl.obolibrary.org/obo/CL_1000329	tracheal goblet cell	http://purl.obolibrary.org/obo/CL_0019003	tracheobronchial goblet cell		
http://purl.obolibrary.org/obo/CL_1001606	foreskin keratinocyte	http://purl.obolibrary.org/obo/CL_0000312	keratinocyte		
http://purl.obolibrary.org/obo/CL_4052060	spinous cell	http://purl.obolibrary.org/obo/CL_0000312	keratinocyte		
http://purl.obolibrary.org/obo/CL_4052061	epidermal keratinocyte	http://purl.obolibrary.org/obo/CL_0000362	epidermal cell		
http://purl.obolibrary.org/obo/CL_0002325	lactocyte	http://purl.obolibrary.org/obo/CL_1001586	mammary gland glandular cell		
http://purl.obolibrary.org/obo/CL_0002140	skin sebocyte	http://purl.obolibrary.org/obo/CL_0000622	acinar cell		
http://purl.obolibrary.org/obo/CL_0002063	pulmonary alveolar type 2 cell	http://purl.obolibrary.org/obo/CL_0020029	cuboidal epithelial cell		
http://purl.obolibrary.org/obo/CL_4040003	fetal pre-type II pulmonary alveolar epithelial cell	http://purl.obolibrary.org/obo/CL_0000322	pulmonary alveolar epithelial cell		
http://purl.obolibrary.org/obo/CL_0000147	pigment cell	http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell		
http://purl.obolibrary.org/obo/CL_0000306	crystallin accumulating cell	http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell		
http://purl.obolibrary.org/obo/CL_0000311	keratin accumulating cell	http://purl.obolibrary.org/obo/CL_0000325	stuff accumulating cell		
http://purl.obolibrary.org/obo/CL_0000153	glycosaminoglycan secreting cell	http://purl.obolibrary.org/obo/CL_0000447	carbohydrate secreting cell		
http://purl.obolibrary.org/obo/CL_0000667	collagen secreting cell	http://purl.obolibrary.org/obo/CL_0000327	extracellular matrix secreting cell		
http://purl.obolibrary.org/obo/CL_0000008	migratory cranial neural crest cell	http://purl.obolibrary.org/obo/CL_0000333	migratory neural crest cell		
http://purl.obolibrary.org/obo/CL_0000011	migratory trunk neural crest cell	http://purl.obolibrary.org/obo/CL_0000333	migratory neural crest cell		
http://purl.obolibrary.org/obo/CL_2000073	migratory cardiac neural crest cell	http://purl.obolibrary.org/obo/CL_0000333	migratory neural crest cell		
http://purl.obolibrary.org/obo/CL_0002082	type II cell of adrenal medulla	http://purl.obolibrary.org/obo/CL_0000454	epinephrine secreting cell		
http://purl.obolibrary.org/obo/CL_0002083	type I cell of adrenal medulla	http://purl.obolibrary.org/obo/CL_0000459	noradrenergic cell		
http://purl.obolibrary.org/obo/CL_1000274	trophectodermal cell	http://purl.obolibrary.org/obo/CL_0000349	extraembryonic cell		
http://purl.obolibrary.org/obo/CL_2000002	decidual cell	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0002323	amniocyte	http://purl.obolibrary.org/obo/CL_0000349	extraembryonic cell		
http://purl.obolibrary.org/obo/CL_0008033	decidual pericyte	http://purl.obolibrary.org/obo/CL_2000078	placental pericyte		
http://purl.obolibrary.org/obo/CL_2000052	umbilical artery endothelial cell	http://purl.obolibrary.org/obo/CL_1000413	endothelial cell of artery		
http://purl.obolibrary.org/obo/CL_2000085	mononuclear cell of umbilical cord	http://purl.obolibrary.org/obo/CL_0000842	mononuclear leukocyte		
http://purl.obolibrary.org/obo/CL_0011101	chorionic trophoblast cell	http://purl.obolibrary.org/obo/CL_0000351	trophoblast cell		
http://purl.obolibrary.org/obo/CL_2000060	placental villous trophoblast	http://purl.obolibrary.org/obo/CL_0000351	trophoblast cell		
http://purl.obolibrary.org/obo/CL_0002243	smooth muscle cell of sphincter of pupil	http://purl.obolibrary.org/obo/CL_0000358	sphincter associated smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002590	smooth muscle cell of the brain vasculature	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0019017	lymphatic vessel smooth muscle cell	http://purl.obolibrary.org/obo/CL_0000359	vascular associated smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell	http://purl.obolibrary.org/obo/CL_0000359	vascular associated smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0008035	microcirculation associated smooth muscle cell	http://purl.obolibrary.org/obo/CL_0008034	mural cell		
http://purl.obolibrary.org/obo/CL_0000712	stratum granulosum cell	http://purl.obolibrary.org/obo/CL_0000362	epidermal cell		
http://purl.obolibrary.org/obo/CL_1000448	epithelial cell of sweat gland	http://purl.obolibrary.org/obo/CL_0002308	epithelial cell of skin gland		
http://purl.obolibrary.org/obo/CL_0000540	neuron	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_0000417	endopolyploid cell	http://purl.obolibrary.org/obo/CL_0000412	polyploid cell		
http://purl.obolibrary.org/obo/CL_0000300	gamete	http://purl.obolibrary.org/obo/CL_0000586	germ cell		
http://purl.obolibrary.org/obo/CL_0000442	follicular dendritic cell	http://purl.obolibrary.org/obo/CL_0000451	dendritic cell		
http://purl.obolibrary.org/obo/CL_0000990	conventional dendritic cell	http://purl.obolibrary.org/obo/CL_0000451	dendritic cell		
http://purl.obolibrary.org/obo/CL_0009034	dendritic cell of appendix	http://purl.obolibrary.org/obo/CL_0000451	dendritic cell		
http://purl.obolibrary.org/obo/CL_2000055	liver dendritic cell	http://purl.obolibrary.org/obo/CL_0000451	dendritic cell		
http://purl.obolibrary.org/obo/CL_0002457	epidermal Langerhans cell	http://purl.obolibrary.org/obo/CL_0002465	CD11b-positive dendritic cell		
http://purl.obolibrary.org/obo/CL_0000336	adrenal medulla chromaffin cell	http://purl.obolibrary.org/obo/CL_1000426	chromaffin cell of adrenal gland		
http://purl.obolibrary.org/obo/CL_0000454	epinephrine secreting cell	http://purl.obolibrary.org/obo/CL_0000457	biogenic amine secreting cell		
http://purl.obolibrary.org/obo/CL_0000458	serotonin secreting cell	http://purl.obolibrary.org/obo/CL_0000457	biogenic amine secreting cell		
http://purl.obolibrary.org/obo/CL_0000459	noradrenergic cell	http://purl.obolibrary.org/obo/CL_0000457	biogenic amine secreting cell		
http://purl.obolibrary.org/obo/CL_0002274	histamine secreting cell	http://purl.obolibrary.org/obo/CL_0000457	biogenic amine secreting cell		
http://purl.obolibrary.org/obo/CL_0011005	GABAergic interneuron	http://purl.obolibrary.org/obo/CL_0000617	GABAergic neuron		
http://purl.obolibrary.org/obo/CL_0000057	fibroblast	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0000327	extracellular matrix secreting cell	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0002132	stromal cell of ovary	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0002255	stromal cell of endometrium	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0002574	stromal cell of pancreas	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0002622	prostate stromal cell	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0009021	stromal cell of lamina propria of large intestine	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0009022	stromal cell of lamina propria of small intestine	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_4030001	stromal cell of thymus	http://purl.obolibrary.org/obo/CL_0000499	stromal cell		
http://purl.obolibrary.org/obo/CL_0000173	pancreatic D cell	http://purl.obolibrary.org/obo/CL_0008024	pancreatic endocrine cell		
http://purl.obolibrary.org/obo/CL_0002265	type D cell of colon	http://purl.obolibrary.org/obo/CL_0009042	enteroendocrine cell of colon		
http://purl.obolibrary.org/obo/CL_0002266	type D cell of small intestine	http://purl.obolibrary.org/obo/CL_0009006	enteroendocrine cell of small intestine		
http://purl.obolibrary.org/obo/CL_0002267	type D cell of stomach	http://purl.obolibrary.org/obo/CL_1000222	stomach neuroendocrine cell		
http://purl.obolibrary.org/obo/CL_0000506	enkephalin secreting cell	http://purl.obolibrary.org/obo/CL_0000507	endorphin secreting cell		
http://purl.obolibrary.org/obo/CL_0000113	mononuclear phagocyte	http://purl.obolibrary.org/obo/CL_0000842	mononuclear leukocyte		
http://purl.obolibrary.org/obo/CL_0000101	sensory neuron	http://purl.obolibrary.org/obo/CL_0000526	afferent neuron		
http://purl.obolibrary.org/obo/CL_0000100	motor neuron	http://purl.obolibrary.org/obo/CL_0000527	efferent neuron		
http://purl.obolibrary.org/obo/CL_0002303	pigmented ciliary epithelial cell	http://purl.obolibrary.org/obo/CL_0000529	pigmented epithelial cell		
http://purl.obolibrary.org/obo/CL_0008028	visual system neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0000526	afferent neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0000527	efferent neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_2000032	peripheral nervous system neuron	http://purl.obolibrary.org/obo/CL_0000540	neuron		
http://purl.obolibrary.org/obo/CL_0000084	T cell	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_0000945	lymphocyte of B lineage	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_0002679	natural helper lymphocyte	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_4030029	blood lymphocyte	http://purl.obolibrary.org/obo/CL_2000001	peripheral blood mononuclear cell		
http://purl.obolibrary.org/obo/CL_0001065	innate lymphoid cell	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_0009044	lymphocyte of small intestine lamina propria	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_0009018	lymphocyte of large intestine lamina propria	http://purl.obolibrary.org/obo/CL_0000542	lymphocyte		
http://purl.obolibrary.org/obo/CL_0002004	CD34-negative, GlyA-negative proerythroblast	http://purl.obolibrary.org/obo/CL_0000547	proerythroblast		
http://purl.obolibrary.org/obo/CL_0002012	Kit-low proerythroblast	http://purl.obolibrary.org/obo/CL_0000547	proerythroblast		
http://purl.obolibrary.org/obo/CL_0002013	GlyA-positive basophilic erythroblast	http://purl.obolibrary.org/obo/CL_0000549	basophilic erythroblast		
http://purl.obolibrary.org/obo/CL_0002014	Kit-negative, Ly-76 high basophilic erythroblast	http://purl.obolibrary.org/obo/CL_0000549	basophilic erythroblast		
http://purl.obolibrary.org/obo/CL_0002015	Kit-negative, Ly-76 high polychromatophilic erythroblast	http://purl.obolibrary.org/obo/CL_0000550	polychromatophilic erythroblast		
http://purl.obolibrary.org/obo/CL_0002016	CD71-low, GlyA-positive polychromatic erythroblast	http://purl.obolibrary.org/obo/CL_0000550	polychromatophilic erythroblast		
http://purl.obolibrary.org/obo/CL_0002017	Kit-negative, Ly-76 high orthochromatophilic erythroblasts	http://purl.obolibrary.org/obo/CL_0000552	orthochromatic erythroblast		
http://purl.obolibrary.org/obo/CL_0002018	CD71-negative, GlyA-positive orthochromatic erythroblast	http://purl.obolibrary.org/obo/CL_0000552	orthochromatic erythroblast		
http://purl.obolibrary.org/obo/CL_0002024	Kit-positive megakaryocyte progenitor cell	http://purl.obolibrary.org/obo/CL_0000553	megakaryocyte progenitor cell		
http://purl.obolibrary.org/obo/CL_0002027	CD9-positive, CD41-positive megakaryocyte cell	http://purl.obolibrary.org/obo/CL_0000556	megakaryocyte		
http://purl.obolibrary.org/obo/CL_4033018	lung megakaryocyte	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0002001	CD34-positive, CD38-positive granulocyte monocyte progenitor	http://purl.obolibrary.org/obo/CL_0000557	granulocyte monocyte progenitor cell		
http://purl.obolibrary.org/obo/CL_0002421	nucleated reticulocyte	http://purl.obolibrary.org/obo/CL_0002242	nucleate cell		
http://purl.obolibrary.org/obo/CL_4030027	GABAergic amacrine cell	http://purl.obolibrary.org/obo/CL_0011005	GABAergic interneuron		
http://purl.obolibrary.org/obo/CL_0008022	endocardial cushion cell	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_0001054	CD14-positive monocyte	http://purl.obolibrary.org/obo/CL_0000576	monocyte		
http://purl.obolibrary.org/obo/CL_0000015	male germ cell	http://purl.obolibrary.org/obo/CL_0000586	germ cell		
http://purl.obolibrary.org/obo/CL_0002095	hilus cell of ovary	http://purl.obolibrary.org/obo/CL_0002132	stromal cell of ovary		
http://purl.obolibrary.org/obo/CL_0002021	GlyA-positive erythrocyte	http://purl.obolibrary.org/obo/CL_0000595	enucleate erythrocyte		
http://purl.obolibrary.org/obo/CL_0002022	Ly-76 high positive erythrocyte	http://purl.obolibrary.org/obo/CL_0000595	enucleate erythrocyte		
http://purl.obolibrary.org/obo/CL_0002030	Fc-epsilon RIalpha-high basophil progenitor cell	http://purl.obolibrary.org/obo/CL_0000613	basophil progenitor cell		
http://purl.obolibrary.org/obo/CL_0002064	pancreatic acinar cell	http://purl.obolibrary.org/obo/CL_1001599	pancreas exocrine glandular cell		
http://purl.obolibrary.org/obo/CL_0002623	acinar cell of salivary gland	http://purl.obolibrary.org/obo/CL_1001596	salivary gland glandular cell		
http://purl.obolibrary.org/obo/CL_0000823	immature natural killer cell	http://purl.obolibrary.org/obo/CL_0001082	immature innate lymphoid cell		
http://purl.obolibrary.org/obo/CL_0000937	pre-natural killer cell	http://purl.obolibrary.org/obo/CL_0000623	natural killer cell		
http://purl.obolibrary.org/obo/CL_0000492	CD4-positive helper T cell	http://purl.obolibrary.org/obo/CL_0000624	CD4-positive, alpha-beta T cell		
http://purl.obolibrary.org/obo/CL_0000895	naive thymus-derived CD4-positive, alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0000898	naive T cell		
http://purl.obolibrary.org/obo/CL_0000896	activated CD4-positive, alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0000624	CD4-positive, alpha-beta T cell		
http://purl.obolibrary.org/obo/CL_0002436	mature CD4 single-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000624	CD4-positive, alpha-beta T cell		
http://purl.obolibrary.org/obo/CL_0000795	CD8-positive, alpha-beta regulatory T cell	http://purl.obolibrary.org/obo/CL_0000815	regulatory T cell		
http://purl.obolibrary.org/obo/CL_0000900	naive thymus-derived CD8-positive, alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0000898	naive T cell		
http://purl.obolibrary.org/obo/CL_0000906	activated CD8-positive, alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0000625	CD8-positive, alpha-beta T cell		
http://purl.obolibrary.org/obo/CL_0000908	CD8-positive, alpha-beta cytokine secreting effector T cell	http://purl.obolibrary.org/obo/CL_0000625	CD8-positive, alpha-beta T cell		
http://purl.obolibrary.org/obo/CL_0002437	mature CD8 single-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000625	CD8-positive, alpha-beta T cell		
http://purl.obolibrary.org/obo/CL_0000642	folliculostellate cell	http://purl.obolibrary.org/obo/CL_2000004	pituitary gland cell		
http://purl.obolibrary.org/obo/CL_0000703	sustentacular cell	http://purl.obolibrary.org/obo/CL_0000630	supporting cell		
http://purl.obolibrary.org/obo/CL_0000853	olfactory epithelial supporting cell	http://purl.obolibrary.org/obo/CL_0002167	olfactory epithelial cell		
http://purl.obolibrary.org/obo/CL_0002256	supporting cell of carotid body	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002503	adventitial cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0000638	acidophil cell of pars distalis of adenohypophysis	http://purl.obolibrary.org/obo/CL_0000637	chromophil cell of anterior pituitary gland		
http://purl.obolibrary.org/obo/CL_0002177	folliculostellate cell of pars distalis of adenohypophysis	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002187	basal cell of epidermis	http://purl.obolibrary.org/obo/CL_4052061	epidermal keratinocyte		
http://purl.obolibrary.org/obo/CL_1000447	epithelial cell of stratum germinativum of esophagus	http://purl.obolibrary.org/obo/CL_0000646	basal cell		
http://purl.obolibrary.org/obo/CL_1000486	basal cell of urothelium	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0002188	glomerular endothelial cell	http://purl.obolibrary.org/obo/CL_0002681	kidney cortical cell		
http://purl.obolibrary.org/obo/CL_1000398	endothelial cell of hepatic sinusoid	http://purl.obolibrary.org/obo/CL_0002262	endothelial cell of sinusoid		
http://purl.obolibrary.org/obo/CL_0002575	central nervous system pericyte	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_2000078	placental pericyte	http://purl.obolibrary.org/obo/CL_0000669	pericyte		
http://purl.obolibrary.org/obo/CL_0009089	lung pericyte	http://purl.obolibrary.org/obo/CL_0000669	pericyte		
http://purl.obolibrary.org/obo/CL_4023068	thalamic excitatory neuron	http://purl.obolibrary.org/obo/CL_0012001	neuron of the forebrain		
http://purl.obolibrary.org/obo/CL_2000028	cerebellum glutamatergic neuron	http://purl.obolibrary.org/obo/CL_1001611	cerebellar neuron		
http://purl.obolibrary.org/obo/CL_0000056	myoblast	http://purl.obolibrary.org/obo/CL_0000680	muscle precursor cell		
http://purl.obolibrary.org/obo/CL_0000636	Mueller cell	http://purl.obolibrary.org/obo/CL_0009004	retinal cell		
http://purl.obolibrary.org/obo/CL_0013000	forebrain radial glial cell	http://purl.obolibrary.org/obo/CL_0000681	radial glial cell		
http://purl.obolibrary.org/obo/CL_1000073	spinal cord radial glial cell	http://purl.obolibrary.org/obo/CL_0000681	radial glial cell		
http://purl.obolibrary.org/obo/CL_0002275	pancreatic PP cell	http://purl.obolibrary.org/obo/CL_0008024	pancreatic endocrine cell		
http://purl.obolibrary.org/obo/CL_0002680	PP cell of intestine	http://purl.obolibrary.org/obo/CL_1001516	intestinal enteroendocrine cell		
http://purl.obolibrary.org/obo/CL_0002081	type II cell of carotid body	http://purl.obolibrary.org/obo/CL_0002256	supporting cell of carotid body		
http://purl.obolibrary.org/obo/CL_0000060	odontoblast	http://purl.obolibrary.org/obo/CL_0002148	dental pulp cell		
http://purl.obolibrary.org/obo/CL_0000529	pigmented epithelial cell	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002220	interstitial cell of pineal gland	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002292	type I cell of carotid body	http://purl.obolibrary.org/obo/CL_0000710	neurecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0000035	single fate stem cell	http://purl.obolibrary.org/obo/CL_0000723	somatic stem cell		
http://purl.obolibrary.org/obo/CL_0000052	totipotent stem cell	http://purl.obolibrary.org/obo/CL_0000723	somatic stem cell		
http://purl.obolibrary.org/obo/CL_1000703	kidney pelvis urothelial cell	http://purl.obolibrary.org/obo/CL_1000505	kidney pelvis cell		
http://purl.obolibrary.org/obo/CL_1000706	ureter urothelial cell	http://purl.obolibrary.org/obo/CL_1000601	ureteral cell		
http://purl.obolibrary.org/obo/CL_1001428	bladder urothelial cell	http://purl.obolibrary.org/obo/CL_1001319	bladder cell		
http://purl.obolibrary.org/obo/CL_1001430	urethra urothelial cell	http://purl.obolibrary.org/obo/CL_1000296	epithelial cell of urethra		
http://purl.obolibrary.org/obo/CL_0000746	cardiac muscle cell	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_0008008	striated visceral muscle cell	http://purl.obolibrary.org/obo/CL_0008007	visceral muscle cell		
http://purl.obolibrary.org/obo/CL_0000145	professional antigen presenting cell	http://purl.obolibrary.org/obo/CL_0000738	leukocyte		
http://purl.obolibrary.org/obo/CL_0000766	myeloid leukocyte	http://purl.obolibrary.org/obo/CL_0000763	myeloid cell		
http://purl.obolibrary.org/obo/CL_0002087	nongranular leukocyte	http://purl.obolibrary.org/obo/CL_0000738	leukocyte		
http://purl.obolibrary.org/obo/CL_2000074	splenocyte	http://purl.obolibrary.org/obo/CL_0000738	leukocyte		
http://purl.obolibrary.org/obo/CL_0002086	specialized cardiac myocyte	http://purl.obolibrary.org/obo/CL_0000746	cardiac muscle cell		
http://purl.obolibrary.org/obo/CL_2000046	ventricular cardiac muscle cell	http://purl.obolibrary.org/obo/CL_0000746	cardiac muscle cell		
http://purl.obolibrary.org/obo/CL_0000752	cone retinal bipolar cell	http://purl.obolibrary.org/obo/CL_0000748	retinal bipolar neuron		
http://purl.obolibrary.org/obo/CL_0000040	monoblast	http://purl.obolibrary.org/obo/CL_0002194	monopoietic cell		
http://purl.obolibrary.org/obo/CL_0000050	megakaryocyte-erythroid progenitor cell	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000553	megakaryocyte progenitor cell	http://purl.obolibrary.org/obo/CL_0000839	myeloid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0000556	megakaryocyte	http://purl.obolibrary.org/obo/CL_0000763	myeloid cell		
http://purl.obolibrary.org/obo/CL_0000557	granulocyte monocyte progenitor cell	http://purl.obolibrary.org/obo/CL_1001610	bone marrow hematopoietic cell		
http://purl.obolibrary.org/obo/CL_0000559	promonocyte	http://purl.obolibrary.org/obo/CL_0002194	monopoietic cell		
http://purl.obolibrary.org/obo/CL_0000613	basophil progenitor cell	http://purl.obolibrary.org/obo/CL_0002191	granulocytopoietic cell		
http://purl.obolibrary.org/obo/CL_0000764	erythroid lineage cell	http://purl.obolibrary.org/obo/CL_0000763	myeloid cell		
http://purl.obolibrary.org/obo/CL_0000831	mast cell progenitor	http://purl.obolibrary.org/obo/CL_0000839	myeloid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0000835	myeloblast	http://purl.obolibrary.org/obo/CL_0002191	granulocytopoietic cell		
http://purl.obolibrary.org/obo/CL_0002009	macrophage dendritic cell progenitor	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0002028	basophil mast progenitor cell	http://purl.obolibrary.org/obo/CL_0002191	granulocytopoietic cell		
http://purl.obolibrary.org/obo/CL_0000038	erythroid progenitor cell	http://purl.obolibrary.org/obo/CL_0000839	myeloid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0000547	proerythroblast	http://purl.obolibrary.org/obo/CL_0002242	nucleate cell		
http://purl.obolibrary.org/obo/CL_0000558	reticulocyte	http://purl.obolibrary.org/obo/CL_0000764	erythroid lineage cell		
http://purl.obolibrary.org/obo/CL_0000765	erythroblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000549	basophilic erythroblast	http://purl.obolibrary.org/obo/CL_0000765	erythroblast		
http://purl.obolibrary.org/obo/CL_0000550	polychromatophilic erythroblast	http://purl.obolibrary.org/obo/CL_0000765	erythroblast		
http://purl.obolibrary.org/obo/CL_0000552	orthochromatic erythroblast	http://purl.obolibrary.org/obo/CL_0000765	erythroblast		
http://purl.obolibrary.org/obo/CL_0000097	mast cell	http://purl.obolibrary.org/obo/CL_0002274	histamine secreting cell		
http://purl.obolibrary.org/obo/CL_0000453	Langerhans cell	http://purl.obolibrary.org/obo/CL_0000990	conventional dendritic cell		
http://purl.obolibrary.org/obo/CL_0000782	myeloid dendritic cell	http://purl.obolibrary.org/obo/CL_0000990	conventional dendritic cell		
http://purl.obolibrary.org/obo/CL_0000787	memory B cell	http://purl.obolibrary.org/obo/CL_0000785	mature B cell		
http://purl.obolibrary.org/obo/CL_0000788	naive B cell	http://purl.obolibrary.org/obo/CL_0000785	mature B cell		
http://purl.obolibrary.org/obo/CL_0000819	B-1 B cell	http://purl.obolibrary.org/obo/CL_0000785	mature B cell		
http://purl.obolibrary.org/obo/CL_0000822	B-2 B cell	http://purl.obolibrary.org/obo/CL_0000785	mature B cell		
http://purl.obolibrary.org/obo/CL_0000845	marginal zone B cell of spleen	http://purl.obolibrary.org/obo/CL_2000074	splenocyte		
http://purl.obolibrary.org/obo/CL_0000980	plasmablast	http://purl.obolibrary.org/obo/CL_0000946	antibody secreting cell		
http://purl.obolibrary.org/obo/CL_0009059	plasma cell of medullary sinus of lymph node	http://purl.obolibrary.org/obo/CL_0000786	plasma cell		
http://purl.obolibrary.org/obo/CL_0009033	plasma cell of appendix	http://purl.obolibrary.org/obo/CL_0000786	plasma cell		
http://purl.obolibrary.org/obo/CL_0000970	unswitched memory B cell	http://purl.obolibrary.org/obo/CL_0000787	memory B cell		
http://purl.obolibrary.org/obo/CL_0000972	class switched memory B cell	http://purl.obolibrary.org/obo/CL_0000787	memory B cell		
http://purl.obolibrary.org/obo/CL_0001053	IgD-negative memory B cell	http://purl.obolibrary.org/obo/CL_0000787	memory B cell		
http://purl.obolibrary.org/obo/CL_0002101	CD38-positive naive B cell	http://purl.obolibrary.org/obo/CL_0000788	naive B cell		
http://purl.obolibrary.org/obo/CL_0002102	CD38-negative naive B cell	http://purl.obolibrary.org/obo/CL_0000788	naive B cell		
http://purl.obolibrary.org/obo/CL_0000790	immature alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0002420	immature T cell		
http://purl.obolibrary.org/obo/CL_0000791	mature alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0002419	mature T cell		
http://purl.obolibrary.org/obo/CL_0000809	double-positive, alpha-beta thymocyte	http://purl.obolibrary.org/obo/CL_0000893	thymocyte		
http://purl.obolibrary.org/obo/CL_0000810	CD4-positive, alpha-beta thymocyte	http://purl.obolibrary.org/obo/CL_0000893	thymocyte		
http://purl.obolibrary.org/obo/CL_0000811	CD8-positive, alpha-beta thymocyte	http://purl.obolibrary.org/obo/CL_0000893	thymocyte		
http://purl.obolibrary.org/obo/CL_0000624	CD4-positive, alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0000791	mature alpha-beta T cell		
http://purl.obolibrary.org/obo/CL_0000625	CD8-positive, alpha-beta T cell	http://purl.obolibrary.org/obo/CL_0000791	mature alpha-beta T cell		
http://purl.obolibrary.org/obo/CL_0002423	DN2a thymocyte	http://purl.obolibrary.org/obo/CL_0000806	DN2 thymocyte		
http://purl.obolibrary.org/obo/CL_0002424	DN2b thymocyte	http://purl.obolibrary.org/obo/CL_0000806	DN2 thymocyte		
http://purl.obolibrary.org/obo/CL_0002427	resting double-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000809	double-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002428	double-positive blast	http://purl.obolibrary.org/obo/CL_0000809	double-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002429	CD69-positive double-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000809	double-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002430	CD4-intermediate, CD8-positive double-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000809	double-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002431	CD4-positive, CD8-intermediate double-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000809	double-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002432	CD24-positive, CD4 single-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000810	CD4-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002433	CD69-positive, CD4-positive single-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000810	CD4-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002434	CD24-positive, CD8 single-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000811	CD8-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002435	CD69-positive, CD8-positive single-positive thymocyte	http://purl.obolibrary.org/obo/CL_0000811	CD8-positive, alpha-beta thymocyte		
http://purl.obolibrary.org/obo/CL_0002054	fraction E immature B cell	http://purl.obolibrary.org/obo/CL_0000816	immature B cell		
http://purl.obolibrary.org/obo/CL_0000955	pre-B-II cell	http://purl.obolibrary.org/obo/CL_0000817	precursor B cell		
http://purl.obolibrary.org/obo/CL_0000956	pre-B-I cell	http://purl.obolibrary.org/obo/CL_0000817	precursor B cell		
http://purl.obolibrary.org/obo/CL_0002050	fraction C' precursor B cell	http://purl.obolibrary.org/obo/CL_0000817	precursor B cell		
http://purl.obolibrary.org/obo/CL_0002400	fraction B/C precursor B cell	http://purl.obolibrary.org/obo/CL_0000817	precursor B cell		
http://purl.obolibrary.org/obo/CL_0000958	T1 B cell	http://purl.obolibrary.org/obo/CL_0000818	transitional stage B cell		
http://purl.obolibrary.org/obo/CL_0000959	T2 B cell	http://purl.obolibrary.org/obo/CL_0000818	transitional stage B cell		
http://purl.obolibrary.org/obo/CL_0000820	B-1a B cell	http://purl.obolibrary.org/obo/CL_0000819	B-1 B cell		
http://purl.obolibrary.org/obo/CL_0000821	B-1b B cell	http://purl.obolibrary.org/obo/CL_0000819	B-1 B cell		
http://purl.obolibrary.org/obo/CL_0000843	follicular B cell	http://purl.obolibrary.org/obo/CL_0000822	B-2 B cell		
http://purl.obolibrary.org/obo/CL_0002056	fraction F mature B cell	http://purl.obolibrary.org/obo/CL_0000822	B-2 B cell		
http://purl.obolibrary.org/obo/CL_0002338	CD56-positive, CD161-positive immature natural killer cell, human	http://purl.obolibrary.org/obo/CL_0000823	immature natural killer cell		
http://purl.obolibrary.org/obo/CL_0002344	CD56-negative, CD161-positive immature natural killer cell, human	http://purl.obolibrary.org/obo/CL_0000823	immature natural killer cell		
http://purl.obolibrary.org/obo/CL_0002045	fraction A pre-pro B cell	http://purl.obolibrary.org/obo/CL_0000826	pro-B cell		
http://purl.obolibrary.org/obo/CL_0000894	DN1 thymic pro-T cell	http://purl.obolibrary.org/obo/CL_0000827	pro-T cell		
http://purl.obolibrary.org/obo/CL_0002425	early T lineage precursor	http://purl.obolibrary.org/obo/CL_0000827	pro-T cell		
http://purl.obolibrary.org/obo/CL_0002029	Fc-epsilon RIalpha-low mast cell progenitor	http://purl.obolibrary.org/obo/CL_0000831	mast cell progenitor		
http://purl.obolibrary.org/obo/CL_0000829	basophilic myeloblast	http://purl.obolibrary.org/obo/CL_0000835	myeloblast		
http://purl.obolibrary.org/obo/CL_0000936	early lymphoid progenitor	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0002035	Slamf1-negative multipotent progenitor cell	http://purl.obolibrary.org/obo/CL_0000837	hematopoietic multipotent progenitor cell		
http://purl.obolibrary.org/obo/CL_0002036	Slamf1-positive multipotent progenitor cell	http://purl.obolibrary.org/obo/CL_0000837	hematopoietic multipotent progenitor cell		
http://purl.obolibrary.org/obo/CL_0002043	CD34-positive, CD38-negative multipotent progenitor cell	http://purl.obolibrary.org/obo/CL_0000837	hematopoietic multipotent progenitor cell		
http://purl.obolibrary.org/obo/CL_0000825	pro-NK cell	http://purl.obolibrary.org/obo/CL_0000838	lymphoid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0000826	pro-B cell	http://purl.obolibrary.org/obo/CL_0000838	lymphoid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0000827	pro-T cell	http://purl.obolibrary.org/obo/CL_0000838	lymphoid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0002191	granulocytopoietic cell	http://purl.obolibrary.org/obo/CL_0000839	myeloid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0002194	monopoietic cell	http://purl.obolibrary.org/obo/CL_0000839	myeloid lineage restricted progenitor cell		
http://purl.obolibrary.org/obo/CL_0000542	lymphocyte	http://purl.obolibrary.org/obo/CL_0000842	mononuclear leukocyte		
http://purl.obolibrary.org/obo/CL_0000961	Bm1 B cell	http://purl.obolibrary.org/obo/CL_0000843	follicular B cell		
http://purl.obolibrary.org/obo/CL_0000962	Bm2 B cell	http://purl.obolibrary.org/obo/CL_0000843	follicular B cell		
http://purl.obolibrary.org/obo/CL_0000878	central nervous system macrophage	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_4042003	border associated macrophage	http://purl.obolibrary.org/obo/CL_0000878	central nervous system macrophage		
http://purl.obolibrary.org/obo/CL_0000805	immature single positive thymocyte	http://purl.obolibrary.org/obo/CL_0000893	thymocyte		
http://purl.obolibrary.org/obo/CL_0002489	double negative thymocyte	http://purl.obolibrary.org/obo/CL_0000893	thymocyte		
http://purl.obolibrary.org/obo/CL_0000236	B cell	http://purl.obolibrary.org/obo/CL_0000945	lymphocyte of B lineage		
http://purl.obolibrary.org/obo/CL_0000946	antibody secreting cell	http://purl.obolibrary.org/obo/CL_0000945	lymphocyte of B lineage		
http://purl.obolibrary.org/obo/CL_0001200	lymphocyte of B lineage, CD19-positive	http://purl.obolibrary.org/obo/CL_0000945	lymphocyte of B lineage		
http://purl.obolibrary.org/obo/CL_0000786	plasma cell	http://purl.obolibrary.org/obo/CL_0000946	antibody secreting cell		
http://purl.obolibrary.org/obo/CL_0000954	small pre-B-II cell	http://purl.obolibrary.org/obo/CL_0000955	pre-B-II cell		
http://purl.obolibrary.org/obo/CL_0002111	CD38-negative unswitched memory B cell	http://purl.obolibrary.org/obo/CL_0000970	unswitched memory B cell		
http://purl.obolibrary.org/obo/CL_0002114	CD38-positive unswitched memory B cell	http://purl.obolibrary.org/obo/CL_0000970	unswitched memory B cell		
http://purl.obolibrary.org/obo/CL_0000979	IgG memory B cell	http://purl.obolibrary.org/obo/CL_0000972	class switched memory B cell		
http://purl.obolibrary.org/obo/CL_4052108	IgD-negative class switched memory B cell	http://purl.obolibrary.org/obo/CL_0001053	IgD-negative memory B cell		
http://purl.obolibrary.org/obo/CL_0002105	CD38-positive IgG memory B cell	http://purl.obolibrary.org/obo/CL_0000979	IgG memory B cell		
http://purl.obolibrary.org/obo/CL_0002108	CD38-negative IgG memory B cell	http://purl.obolibrary.org/obo/CL_4052108	IgD-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0000983	IgM plasmablast	http://purl.obolibrary.org/obo/CL_0000980	plasmablast		
http://purl.obolibrary.org/obo/CL_0002103	IgG-positive double negative memory B cell	http://purl.obolibrary.org/obo/CL_0000981	double negative memory B cell		
http://purl.obolibrary.org/obo/CL_0002104	IgG-negative double negative memory B cell	http://purl.obolibrary.org/obo/CL_0000981	double negative memory B cell		
http://purl.obolibrary.org/obo/CL_0000081	blood cell	http://purl.obolibrary.org/obo/CL_0000988	hematopoietic cell		
http://purl.obolibrary.org/obo/CL_0008001	hematopoietic precursor cell	http://purl.obolibrary.org/obo/CL_0000988	hematopoietic cell		
http://purl.obolibrary.org/obo/CL_1001610	bone marrow hematopoietic cell	http://purl.obolibrary.org/obo/CL_0002092	bone marrow cell		
http://purl.obolibrary.org/obo/CL_0000941	thymic conventional dendritic cell	http://purl.obolibrary.org/obo/CL_0000990	conventional dendritic cell		
http://purl.obolibrary.org/obo/CL_0002465	CD11b-positive dendritic cell	http://purl.obolibrary.org/obo/CL_0000990	conventional dendritic cell		
http://purl.obolibrary.org/obo/CL_0002507	langerin-positive lymph node dendritic cell	http://purl.obolibrary.org/obo/CL_0000990	conventional dendritic cell		
http://purl.obolibrary.org/obo/CL_0001026	CD34-positive, CD38-positive common myeloid progenitor	http://purl.obolibrary.org/obo/CL_0001059	common myeloid progenitor, CD34-positive		
http://purl.obolibrary.org/obo/CL_0002033	short term hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0001008	Kit and Sca1-positive hematopoietic stem cell		
http://purl.obolibrary.org/obo/CL_0002034	long term hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0001008	Kit and Sca1-positive hematopoietic stem cell		
http://purl.obolibrary.org/obo/CL_0001023	Kit-positive, CD34-positive common myeloid progenitor	http://purl.obolibrary.org/obo/CL_0001059	common myeloid progenitor, CD34-positive		
http://purl.obolibrary.org/obo/CL_0001033	hippocampal granule cell	http://purl.obolibrary.org/obo/CL_0002608	hippocampal neuron		
http://purl.obolibrary.org/obo/CL_2000089	dentate gyrus granule cell	http://purl.obolibrary.org/obo/CL_4023062	dentate gyrus neuron		
http://purl.obolibrary.org/obo/CL_0002092	bone marrow cell	http://purl.obolibrary.org/obo/CL_0001035	bone cell		
http://purl.obolibrary.org/obo/CL_0007010	preosteoblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000971	IgM memory B cell	http://purl.obolibrary.org/obo/CL_0001053	IgD-negative memory B cell		
http://purl.obolibrary.org/obo/CL_0000981	double negative memory B cell	http://purl.obolibrary.org/obo/CL_0001053	IgD-negative memory B cell		
http://purl.obolibrary.org/obo/CL_0000995	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0001012	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0001030	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0002044	Kit-positive, integrin beta7-high basophil mast progenitor cell	http://purl.obolibrary.org/obo/CL_0002028	basophil mast progenitor cell		
http://purl.obolibrary.org/obo/CL_0000838	lymphoid lineage restricted progenitor cell	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000839	myeloid lineage restricted progenitor cell	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0000049	common myeloid progenitor	http://purl.obolibrary.org/obo/CL_0002032	hematopoietic oligopotent progenitor cell		
http://purl.obolibrary.org/obo/CL_0000051	common lymphoid progenitor	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0001060	hematopoietic oligopotent progenitor cell, lineage-negative	http://purl.obolibrary.org/obo/CL_0002032	hematopoietic oligopotent progenitor cell		
http://purl.obolibrary.org/obo/CL_0000171	pancreatic A cell	http://purl.obolibrary.org/obo/CL_0008024	pancreatic endocrine cell		
http://purl.obolibrary.org/obo/CL_0002264	type A cell of stomach	http://purl.obolibrary.org/obo/CL_1001517	stomach enteroendocrine cell		
http://purl.obolibrary.org/obo/CL_1000376	Purkinje myocyte of interventricular septum	http://purl.obolibrary.org/obo/CL_2000022	cardiac septum cell		
http://purl.obolibrary.org/obo/CL_1000479	Purkinje myocyte of atrioventricular node	http://purl.obolibrary.org/obo/CL_1000410	myocyte of atrioventricular node		
http://purl.obolibrary.org/obo/CL_1000484	Purkinje myocyte of atrioventricular bundle	http://purl.obolibrary.org/obo/CL_2000046	ventricular cardiac muscle cell		
http://purl.obolibrary.org/obo/CL_1000409	myocyte of sinoatrial node	http://purl.obolibrary.org/obo/CL_0008009	transversely striated visceral muscle cell		
http://purl.obolibrary.org/obo/CL_1000410	myocyte of atrioventricular node	http://purl.obolibrary.org/obo/CL_2000022	cardiac septum cell		
http://purl.obolibrary.org/obo/CL_1000361	transitional myocyte of interatrial septum	http://purl.obolibrary.org/obo/CL_2000022	cardiac septum cell		
http://purl.obolibrary.org/obo/CL_1000362	transitional myocyte of interventricular septum	http://purl.obolibrary.org/obo/CL_2000022	cardiac septum cell		
http://purl.obolibrary.org/obo/CL_1000478	transitional myocyte of sinoatrial node	http://purl.obolibrary.org/obo/CL_1000409	myocyte of sinoatrial node		
http://purl.obolibrary.org/obo/CL_1000481	transitional myocyte of atrioventricular bundle	http://purl.obolibrary.org/obo/CL_2000046	ventricular cardiac muscle cell		
http://purl.obolibrary.org/obo/CL_0002663	myocardial endocrine cell of atrium	http://purl.obolibrary.org/obo/CL_0002074	myocardial endocrine cell		
http://purl.obolibrary.org/obo/CL_1000482	myocardial endocrine cell of interventricular septum	http://purl.obolibrary.org/obo/CL_2000022	cardiac septum cell		
http://purl.obolibrary.org/obo/CL_0002208	brush cell of bronchus	http://purl.obolibrary.org/obo/CL_0002328	bronchial epithelial cell		
http://purl.obolibrary.org/obo/CL_0000083	epithelial cell of pancreas	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002198	oncocyte	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002231	epithelial cell of prostate	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002251	epithelial cell of alimentary canal	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002260	epithelial cell of parathyroid gland	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002261	endothelial cell of viscerocranial mucosa	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002293	epithelial cell of thymus	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002368	respiratory tract epithelial cell	http://purl.obolibrary.org/obo/CL_0002076	endo-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002159	general ecto-epithelial cell	http://purl.obolibrary.org/obo/CL_0002077	ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002149	epithelial cell of uterus	http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002305	epithelial cell of distal tubule	http://purl.obolibrary.org/obo/CL_1000615	kidney cortex tubule cell		
http://purl.obolibrary.org/obo/CL_0002306	epithelial cell of proximal tubule	http://purl.obolibrary.org/obo/CL_1000615	kidney cortex tubule cell		
http://purl.obolibrary.org/obo/CL_2000064	ovarian surface epithelial cell	http://purl.obolibrary.org/obo/CL_0002078	meso-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002068	Purkinje myocyte	http://purl.obolibrary.org/obo/CL_0002086	specialized cardiac myocyte		
http://purl.obolibrary.org/obo/CL_0002072	nodal myocyte	http://purl.obolibrary.org/obo/CL_0002086	specialized cardiac myocyte		
http://purl.obolibrary.org/obo/CL_0002073	transitional myocyte	http://purl.obolibrary.org/obo/CL_0002086	specialized cardiac myocyte		
http://purl.obolibrary.org/obo/CL_0002109	B220-positive CD38-positive naive B cell	http://purl.obolibrary.org/obo/CL_0002101	CD38-positive naive B cell		
http://purl.obolibrary.org/obo/CL_0002106	IgD-positive CD38-positive IgG memory B cell	http://purl.obolibrary.org/obo/CL_0002105	CD38-positive IgG memory B cell		
http://purl.obolibrary.org/obo/CL_0002107	IgD-negative CD38-positive IgG memory B cell	http://purl.obolibrary.org/obo/CL_4052108	IgD-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0002110	B220-low CD38-positive naive B cell	http://purl.obolibrary.org/obo/CL_0002109	B220-positive CD38-positive naive B cell		
http://purl.obolibrary.org/obo/CL_0002112	B220-positive CD38-negative unswitched memory B cell	http://purl.obolibrary.org/obo/CL_0002111	CD38-negative unswitched memory B cell		
http://purl.obolibrary.org/obo/CL_0002113	B220-low CD38-negative unswitched memory B cell	http://purl.obolibrary.org/obo/CL_0002112	B220-positive CD38-negative unswitched memory B cell		
http://purl.obolibrary.org/obo/CL_0002115	B220-positive CD38-positive unswitched memory B cell	http://purl.obolibrary.org/obo/CL_0002114	CD38-positive unswitched memory B cell		
http://purl.obolibrary.org/obo/CL_0002116	B220-low CD38-positive unswitched memory B cell	http://purl.obolibrary.org/obo/CL_0002115	B220-positive CD38-positive unswitched memory B cell		
http://purl.obolibrary.org/obo/CL_0002118	CD38-negative IgG-negative class switched memory B cell	http://purl.obolibrary.org/obo/CL_0002117	IgG-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0002119	CD38-positive IgG-negative class switched memory B cell	http://purl.obolibrary.org/obo/CL_0002117	IgG-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0002120	CD24-positive CD38-negative IgG-negative class switched memory B cell	http://purl.obolibrary.org/obo/CL_0002118	CD38-negative IgG-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0002121	CD24-negative CD38-negative IgG-negative class switched memory B cell	http://purl.obolibrary.org/obo/CL_0002118	CD38-negative IgG-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0002122	B220-positive CD38-positive IgG-negative class switched memory B cell	http://purl.obolibrary.org/obo/CL_0002119	CD38-positive IgG-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0002123	B220-low CD38-positive IgG-negative class switched memory B cell	http://purl.obolibrary.org/obo/CL_0002122	B220-positive CD38-positive IgG-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0002134	stromal cell of ovarian medulla	http://purl.obolibrary.org/obo/CL_0002132	stromal cell of ovary		
http://purl.obolibrary.org/obo/CL_0009115	lymph node lymphatic vessel endothelial cell	http://purl.obolibrary.org/obo/CL_0002138	endothelial cell of lymphatic vessel		
http://purl.obolibrary.org/obo/CL_2000011	dermis lymphatic vessel endothelial cell	http://purl.obolibrary.org/obo/CL_0002138	endothelial cell of lymphatic vessel		
http://purl.obolibrary.org/obo/CL_0009086	endothelial cell of respiratory system lymphatic vessel	http://purl.obolibrary.org/obo/CL_0002138	endothelial cell of lymphatic vessel		
http://purl.obolibrary.org/obo/CL_0000071	blood vessel endothelial cell	http://purl.obolibrary.org/obo/CL_0002139	endothelial cell of vascular tree		
http://purl.obolibrary.org/obo/CL_0002138	endothelial cell of lymphatic vessel	http://purl.obolibrary.org/obo/CL_0002139	endothelial cell of vascular tree		
http://purl.obolibrary.org/obo/CL_1001567	lung endothelial cell	http://purl.obolibrary.org/obo/CL_0002139	endothelial cell of vascular tree		
http://purl.obolibrary.org/obo/CL_2000062	placental villus capillary endothelial cell	http://purl.obolibrary.org/obo/CL_0009092	endothelial cell of placenta		
http://purl.obolibrary.org/obo/CL_0002332	multiciliated epithelial cell of the bronchus	http://purl.obolibrary.org/obo/CL_0002328	bronchial epithelial cell		
http://purl.obolibrary.org/obo/CL_0002535	epithelial cell of cervix	http://purl.obolibrary.org/obo/CL_0002149	epithelial cell of uterus		
http://purl.obolibrary.org/obo/CL_4030040	endometrial multiciliated epithelial cell	http://purl.obolibrary.org/obo/CL_0005012	multiciliated epithelial cell		
http://purl.obolibrary.org/obo/CL_0009084	glandular epithelial cell of endometrium	http://purl.obolibrary.org/obo/CL_0002149	epithelial cell of uterus		
http://purl.obolibrary.org/obo/CL_0000362	epidermal cell	http://purl.obolibrary.org/obo/CL_0002159	general ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002148	dental pulp cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0002166	epithelial cell of Malassez	http://purl.obolibrary.org/obo/CL_0002159	general ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002308	epithelial cell of skin gland	http://purl.obolibrary.org/obo/CL_0002159	general ecto-epithelial cell		
http://purl.obolibrary.org/obo/CL_0002169	basal cell of olfactory epithelium	http://purl.obolibrary.org/obo/CL_0002167	olfactory epithelial cell		
http://purl.obolibrary.org/obo/CL_2000033	limb basal cell of epidermis	http://purl.obolibrary.org/obo/CL_0002187	basal cell of epidermis		
http://purl.obolibrary.org/obo/CL_0002199	oxyphil cell of parathyroid gland	http://purl.obolibrary.org/obo/CL_0002260	epithelial cell of parathyroid gland		
http://purl.obolibrary.org/obo/CL_0002200	oxyphil cell of thyroid	http://purl.obolibrary.org/obo/CL_0002257	epithelial cell of thyroid gland		
http://purl.obolibrary.org/obo/CL_0000307	tracheal epithelial cell	http://purl.obolibrary.org/obo/CL_0002202	epithelial cell of tracheobronchial tree		
http://purl.obolibrary.org/obo/CL_0002145	multiciliated columnar cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_4030034	respiratory tract multiciliated cell		
http://purl.obolibrary.org/obo/CL_0002209	intermediate epitheliocyte	http://purl.obolibrary.org/obo/CL_0002202	epithelial cell of tracheobronchial tree		
http://purl.obolibrary.org/obo/CL_0002328	bronchial epithelial cell	http://purl.obolibrary.org/obo/CL_0002202	epithelial cell of tracheobronchial tree		
http://purl.obolibrary.org/obo/CL_0002329	basal epithelial cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0002202	epithelial cell of tracheobronchial tree		
http://purl.obolibrary.org/obo/CL_0009020	tuft cell of appendix	http://purl.obolibrary.org/obo/CL_0002203	tuft cell of large intestine		
http://purl.obolibrary.org/obo/CL_0009065	tuft cell of anorectum	http://purl.obolibrary.org/obo/CL_0002203	tuft cell of large intestine		
http://purl.obolibrary.org/obo/CL_0009041	tuft cell of colon	http://purl.obolibrary.org/obo/CL_0011108	colon epithelial cell		
http://purl.obolibrary.org/obo/CL_0002341	basal cell of prostate epithelium	http://purl.obolibrary.org/obo/CL_0002231	epithelial cell of prostate		
http://purl.obolibrary.org/obo/CL_2000095	cord blood hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0002352	gestational hematopoietic stem cell		
http://purl.obolibrary.org/obo/CL_0002178	epithelial cell of stomach	http://purl.obolibrary.org/obo/CL_0002251	epithelial cell of alimentary canal		
http://purl.obolibrary.org/obo/CL_0002252	epithelial cell of esophagus	http://purl.obolibrary.org/obo/CL_0002251	epithelial cell of alimentary canal		
http://purl.obolibrary.org/obo/CL_0002563	intestinal epithelial cell	http://purl.obolibrary.org/obo/CL_0002251	epithelial cell of alimentary canal		
http://purl.obolibrary.org/obo/CL_1001573	nasopharyngeal epithelial cell	http://purl.obolibrary.org/obo/CL_0002631	epithelial cell of upper respiratory tract		
http://purl.obolibrary.org/obo/CL_3000000	ciliated epithelial cell of esophagus	http://purl.obolibrary.org/obo/CL_0002252	epithelial cell of esophagus		
http://purl.obolibrary.org/obo/CL_0002634	epithelial cell of anal column	http://purl.obolibrary.org/obo/CL_0002253	epithelial cell of large intestine		
http://purl.obolibrary.org/obo/CL_0011108	colon epithelial cell	http://purl.obolibrary.org/obo/CL_0002253	epithelial cell of large intestine		
http://purl.obolibrary.org/obo/CL_1000405	epithelial cell of appendix	http://purl.obolibrary.org/obo/CL_0002253	epithelial cell of large intestine		
http://purl.obolibrary.org/obo/CL_0009063	enteroendocrine cell of anorectum	http://purl.obolibrary.org/obo/CL_1001516	intestinal enteroendocrine cell		
http://purl.obolibrary.org/obo/CL_0002336	buccal mucosa cell	http://purl.obolibrary.org/obo/CL_0002261	endothelial cell of viscerocranial mucosa		
http://purl.obolibrary.org/obo/CL_0002364	cortical thymic epithelial cell	http://purl.obolibrary.org/obo/CL_0002293	epithelial cell of thymus		
http://purl.obolibrary.org/obo/CL_0002365	medullary thymic epithelial cell	http://purl.obolibrary.org/obo/CL_0002293	epithelial cell of thymus		
http://purl.obolibrary.org/obo/CL_1000849	kidney distal convoluted tubule epithelial cell	http://purl.obolibrary.org/obo/CL_0002305	epithelial cell of distal tubule		
http://purl.obolibrary.org/obo/CL_1000839	kidney proximal straight tubule epithelial cell	http://purl.obolibrary.org/obo/CL_1001021	kidney loop of Henle descending limb epithelial cell		
http://purl.obolibrary.org/obo/CL_1000838	kidney proximal convoluted tubule epithelial cell	http://purl.obolibrary.org/obo/CL_0002307	brush border cell of the proximal tubule		
http://purl.obolibrary.org/obo/CL_0009004	retinal cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_2000004	pituitary gland cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_4023072	brain vascular cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_2000030	hypothalamus cell	http://purl.obolibrary.org/obo/CL_0002319	neural cell		
http://purl.obolibrary.org/obo/CL_2000044	brain microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_0000058	chondroblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0002564	nucleus pulposus cell of intervertebral disc	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_0002602	annulus pulposus cell	http://purl.obolibrary.org/obo/CL_0002320	connective tissue cell		
http://purl.obolibrary.org/obo/CL_2000072	adipose microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_0000007	early embryonic cell (metazoa)	http://purl.obolibrary.org/obo/CL_0002321	embryonic cell (metazoa)		
http://purl.obolibrary.org/obo/CL_1000418	myoepithelial cell of lactiferous alveolus	http://purl.obolibrary.org/obo/CL_0002324	basal-myoepithelial cell of mammary gland		
http://purl.obolibrary.org/obo/CL_4033057	luminal adaptive secretory precursor cell of mammary gland	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_4033022	mucus secreting cell of bronchus submucosal gland	http://purl.obolibrary.org/obo/CL_4033037	mucus secreting cell of tracheobronchial tree submucosal gland		
http://purl.obolibrary.org/obo/CL_1000312	bronchial goblet cell	http://purl.obolibrary.org/obo/CL_0019003	tracheobronchial goblet cell		
http://purl.obolibrary.org/obo/CL_0002359	placental hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0002352	gestational hematopoietic stem cell		
http://purl.obolibrary.org/obo/CL_0002294	type-1 epithelial cell of thymus	http://purl.obolibrary.org/obo/CL_0002364	cortical thymic epithelial cell		
http://purl.obolibrary.org/obo/CL_0002631	epithelial cell of upper respiratory tract	http://purl.obolibrary.org/obo/CL_0002368	respiratory tract epithelial cell		
http://purl.obolibrary.org/obo/CL_0002632	epithelial cell of lower respiratory tract	http://purl.obolibrary.org/obo/CL_0002368	respiratory tract epithelial cell		
http://purl.obolibrary.org/obo/CL_4030034	respiratory tract multiciliated cell	http://purl.obolibrary.org/obo/CL_0005012	multiciliated epithelial cell		
http://purl.obolibrary.org/obo/CL_4033044	deuterosomal cell	http://purl.obolibrary.org/obo/CL_0002368	respiratory tract epithelial cell		
http://purl.obolibrary.org/obo/CL_0002480	nasal mucosa goblet cell	http://purl.obolibrary.org/obo/CL_0002631	epithelial cell of upper respiratory tract		
http://purl.obolibrary.org/obo/CL_0002047	fraction B precursor B cell	http://purl.obolibrary.org/obo/CL_0002400	fraction B/C precursor B cell		
http://purl.obolibrary.org/obo/CL_0002049	fraction C precursor B cell	http://purl.obolibrary.org/obo/CL_0002400	fraction B/C precursor B cell		
http://purl.obolibrary.org/obo/CL_0002052	fraction D precursor B cell	http://purl.obolibrary.org/obo/CL_0002400	fraction B/C precursor B cell		
http://purl.obolibrary.org/obo/CL_0000815	regulatory T cell	http://purl.obolibrary.org/obo/CL_0002419	mature T cell		
http://purl.obolibrary.org/obo/CL_0000898	naive T cell	http://purl.obolibrary.org/obo/CL_0002419	mature T cell		
http://purl.obolibrary.org/obo/CL_0000893	thymocyte	http://purl.obolibrary.org/obo/CL_0002420	immature T cell		
http://purl.obolibrary.org/obo/CL_0002019	Ly-76 high reticulocyte	http://purl.obolibrary.org/obo/CL_0002422	enucleated reticulocyte		
http://purl.obolibrary.org/obo/CL_0002020	GlyA-positive reticulocytes	http://purl.obolibrary.org/obo/CL_0002422	enucleated reticulocyte		
http://purl.obolibrary.org/obo/CL_0002454	CD4-negative, CD8-alpha-negative, CD11b-positive dendritic cell	http://purl.obolibrary.org/obo/CL_0002465	CD11b-positive dendritic cell		
http://purl.obolibrary.org/obo/CL_2000000	epidermal melanocyte	http://purl.obolibrary.org/obo/CL_1000458	melanocyte of skin		
http://purl.obolibrary.org/obo/CL_0000806	DN2 thymocyte	http://purl.obolibrary.org/obo/CL_0002489	double negative thymocyte		
http://purl.obolibrary.org/obo/CL_0000807	DN3 thymocyte	http://purl.obolibrary.org/obo/CL_0002489	double negative thymocyte		
http://purl.obolibrary.org/obo/CL_0000808	DN4 thymocyte	http://purl.obolibrary.org/obo/CL_0002489	double negative thymocyte		
http://purl.obolibrary.org/obo/CL_0011024	double negative T regulatory cell	http://purl.obolibrary.org/obo/CL_0002489	double negative thymocyte		
http://purl.obolibrary.org/obo/CL_0000513	cardiac muscle myoblast	http://purl.obolibrary.org/obo/CL_0010021	cardiac myoblast		
http://purl.obolibrary.org/obo/CL_0002592	smooth muscle cell of the coronary artery	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0010007	His-Purkinje system cell	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_1000147	cardiac valve cell	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_2000022	cardiac septum cell	http://purl.obolibrary.org/obo/CL_0002494	cardiocyte		
http://purl.obolibrary.org/obo/CL_1000275	smooth muscle cell of small intestine	http://purl.obolibrary.org/obo/CL_0002504	enteric smooth muscle cell		
http://purl.obolibrary.org/obo/CL_1000279	smooth muscle cell of large intestine	http://purl.obolibrary.org/obo/CL_0002504	enteric smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002584	renal cortical epithelial cell	http://purl.obolibrary.org/obo/CL_0002681	kidney cortical cell		
http://purl.obolibrary.org/obo/CL_1000449	epithelial cell of nephron	http://purl.obolibrary.org/obo/CL_0002518	kidney epithelial cell		
http://purl.obolibrary.org/obo/CL_0000653	podocyte	http://purl.obolibrary.org/obo/CL_1000450	epithelial cell of glomerular capsule		
http://purl.obolibrary.org/obo/CL_1001587	uterine cervix secretory cell	http://purl.obolibrary.org/obo/CL_1001591	oviduct secretory cell		
http://purl.obolibrary.org/obo/CL_2000079	mesenchymal stem cell of femoral bone marrow	http://purl.obolibrary.org/obo/CL_0002540	mesenchymal stem cell of the bone marrow		
http://purl.obolibrary.org/obo/CL_2000076	hindlimb stylopod vein endothelial cell	http://purl.obolibrary.org/obo/CL_0002543	vein endothelial cell		
http://purl.obolibrary.org/obo/CL_4033008	vein endothelial cell of respiratory system	http://purl.obolibrary.org/obo/CL_0002543	vein endothelial cell		
http://purl.obolibrary.org/obo/CL_0009094	endothelial cell of hepatic portal vein	http://purl.obolibrary.org/obo/CL_0002543	vein endothelial cell		
http://purl.obolibrary.org/obo/CL_2000066	cardiac ventricle fibroblast	http://purl.obolibrary.org/obo/CL_0002548	fibroblast of cardiac tissue		
http://purl.obolibrary.org/obo/CL_2000067	cardiac atrium fibroblast	http://purl.obolibrary.org/obo/CL_0002548	fibroblast of cardiac tissue		
http://purl.obolibrary.org/obo/CL_2000093	bronchus fibroblast of lung	http://purl.obolibrary.org/obo/CL_0002553	fibroblast of lung		
http://purl.obolibrary.org/obo/CL_2000017	fibroblast of peridontal ligament	http://purl.obolibrary.org/obo/CL_0002556	fibroblast of periodontium		
http://purl.obolibrary.org/obo/CL_0002483	hair follicle melanocyte	http://purl.obolibrary.org/obo/CL_2000000	epidermal melanocyte		
http://purl.obolibrary.org/obo/CL_2000092	hair follicular keratinocyte	http://purl.obolibrary.org/obo/CL_4052061	epidermal keratinocyte		
http://purl.obolibrary.org/obo/CL_4047017	transit amplifying cell of gut	http://purl.obolibrary.org/obo/CL_0009010	transit amplifying cell		
http://purl.obolibrary.org/obo/CL_0002253	epithelial cell of large intestine	http://purl.obolibrary.org/obo/CL_0002563	intestinal epithelial cell		
http://purl.obolibrary.org/obo/CL_0002254	epithelial cell of small intestine	http://purl.obolibrary.org/obo/CL_0002563	intestinal epithelial cell		
http://purl.obolibrary.org/obo/CL_2000080	mesenchymal stem cell of abdominal adipose tissue	http://purl.obolibrary.org/obo/CL_0002570	mesenchymal stem cell of adipose tissue		
http://purl.obolibrary.org/obo/CL_2000043	brain pericyte	http://purl.obolibrary.org/obo/CL_0002575	central nervous system pericyte		
http://purl.obolibrary.org/obo/CL_1000612	kidney corpuscule cell	http://purl.obolibrary.org/obo/CL_1000449	epithelial cell of nephron		
http://purl.obolibrary.org/obo/CL_1000615	kidney cortex tubule cell	http://purl.obolibrary.org/obo/CL_1000507	kidney tubule cell		
http://purl.obolibrary.org/obo/CL_1000681	kidney cortex interstitial cell	http://purl.obolibrary.org/obo/CL_1000500	kidney interstitial cell		
http://purl.obolibrary.org/obo/CL_0002593	smooth muscle cell of the internal thoracic artery	http://purl.obolibrary.org/obo/CL_0002595	smooth muscle cell of the subclavian artery		
http://purl.obolibrary.org/obo/CL_0002366	myometrial cell	http://purl.obolibrary.org/obo/CL_0002601	uterine smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002604	hippocampal astrocyte	http://purl.obolibrary.org/obo/CL_1001580	hippocampal glial cell		
http://purl.obolibrary.org/obo/CL_0002551	fibroblast of dermis	http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast		
http://purl.obolibrary.org/obo/CL_1001608	foreskin fibroblast	http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast		
http://purl.obolibrary.org/obo/CL_2000012	fibroblast of pedal digit skin	http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast		
http://purl.obolibrary.org/obo/CL_2000013	fibroblast of skin of abdomen	http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast		
http://purl.obolibrary.org/obo/CL_2000014	fibroblast of upper leg skin	http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast		
http://purl.obolibrary.org/obo/CL_2000015	fibroblast of arm	http://purl.obolibrary.org/obo/CL_0002620	skin fibroblast		
http://purl.obolibrary.org/obo/CL_0000082	epithelial cell of lung	http://purl.obolibrary.org/obo/CL_0002632	epithelial cell of lower respiratory tract		
http://purl.obolibrary.org/obo/CL_0002202	epithelial cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0002632	epithelial cell of lower respiratory tract		
http://purl.obolibrary.org/obo/CL_0002144	capillary endothelial cell	http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_1001585	appendix glandular cell	http://purl.obolibrary.org/obo/CL_1000405	epithelial cell of appendix		
http://purl.obolibrary.org/obo/CL_1001588	colon glandular cell	http://purl.obolibrary.org/obo/CL_0011108	colon epithelial cell		
http://purl.obolibrary.org/obo/CL_1001595	rectum glandular cell	http://purl.obolibrary.org/obo/CL_0002658	glandular cell of the large intestine		
http://purl.obolibrary.org/obo/CL_1001006	kidney afferent arteriole cell	http://purl.obolibrary.org/obo/CL_1000891	kidney arterial blood vessel cell		
http://purl.obolibrary.org/obo/CL_1001045	kidney cortex artery cell	http://purl.obolibrary.org/obo/CL_1000891	kidney arterial blood vessel cell		
http://purl.obolibrary.org/obo/CL_1001052	kidney cortex vein cell	http://purl.obolibrary.org/obo/CL_1000893	kidney venous blood vessel cell		
http://purl.obolibrary.org/obo/CL_0009019	nephrogenic zone cell	http://purl.obolibrary.org/obo/CL_0002681	kidney cortical cell		
http://purl.obolibrary.org/obo/CL_2000023	spinal cord ventral column interneuron	http://purl.obolibrary.org/obo/CL_0005000	spinal cord interneuron		
http://purl.obolibrary.org/obo/CL_1001431	kidney collecting duct principal cell	http://purl.obolibrary.org/obo/CL_1000454	kidney collecting duct epithelial cell		
http://purl.obolibrary.org/obo/CL_0005022	vascular lymphangioblast	http://purl.obolibrary.org/obo/CL_0005020	lymphangioblast		
http://purl.obolibrary.org/obo/CL_0000192	smooth muscle cell	http://purl.obolibrary.org/obo/CL_0008007	visceral muscle cell		
http://purl.obolibrary.org/obo/CL_0002673	tongue muscle cell	http://purl.obolibrary.org/obo/CL_0008002	skeletal muscle fiber		
http://purl.obolibrary.org/obo/CL_0008009	transversely striated visceral muscle cell	http://purl.obolibrary.org/obo/CL_0008008	striated visceral muscle cell		
http://purl.obolibrary.org/obo/CL_2000018	endothelial cell of coronary artery	http://purl.obolibrary.org/obo/CL_1000413	endothelial cell of artery		
http://purl.obolibrary.org/obo/CL_0010005	atrioventricular bundle cell	http://purl.obolibrary.org/obo/CL_0010007	His-Purkinje system cell		
http://purl.obolibrary.org/obo/CL_4030033	valve endothelial cell	http://purl.obolibrary.org/obo/CL_1000147	cardiac valve cell		
http://purl.obolibrary.org/obo/CL_0002350	endocardial cell	http://purl.obolibrary.org/obo/CL_0010008	cardiac endothelial cell		
http://purl.obolibrary.org/obo/CL_0000573	retinal cone cell	http://purl.obolibrary.org/obo/CL_0010009	camera-type eye photoreceptor cell		
http://purl.obolibrary.org/obo/CL_0000604	retinal rod cell	http://purl.obolibrary.org/obo/CL_0010009	camera-type eye photoreceptor cell		
http://purl.obolibrary.org/obo/CL_0000118	basket cell	http://purl.obolibrary.org/obo/CL_0011005	GABAergic interneuron		
http://purl.obolibrary.org/obo/CL_4023057	cerebellar inhibitory GABAergic interneuron	http://purl.obolibrary.org/obo/CL_1001611	cerebellar neuron		
http://purl.obolibrary.org/obo/CL_0009039	colon goblet cell	http://purl.obolibrary.org/obo/CL_1000320	large intestine goblet cell		
http://purl.obolibrary.org/obo/CL_0009042	enteroendocrine cell of colon	http://purl.obolibrary.org/obo/CL_1001516	intestinal enteroendocrine cell		
http://purl.obolibrary.org/obo/CL_0002605	astrocyte of the cerebral cortex	http://purl.obolibrary.org/obo/CL_1001579	cerebral cortex glial cell		
http://purl.obolibrary.org/obo/CL_0010012	cerebral cortex neuron	http://purl.obolibrary.org/obo/CL_0012001	neuron of the forebrain		
http://purl.obolibrary.org/obo/CL_1001582	lateral ventricle neuron	http://purl.obolibrary.org/obo/CL_0012001	neuron of the forebrain		
http://purl.obolibrary.org/obo/CL_4033009	goblet cell of epithelium of lobar bronchus	http://purl.obolibrary.org/obo/CL_1000312	bronchial goblet cell		
http://purl.obolibrary.org/obo/CL_1000332	serous cell of epithelium of terminal bronchiole	http://purl.obolibrary.org/obo/CL_0019001	tracheobronchial serous cell		
http://purl.obolibrary.org/obo/CL_1000333	serous cell of epithelium of lobular bronchiole	http://purl.obolibrary.org/obo/CL_0019001	tracheobronchial serous cell		
http://purl.obolibrary.org/obo/CL_1000276	smooth muscle fiber of duodenum	http://purl.obolibrary.org/obo/CL_1000275	smooth muscle cell of small intestine		
http://purl.obolibrary.org/obo/CL_1000277	smooth muscle fiber of jejunum	http://purl.obolibrary.org/obo/CL_1000275	smooth muscle cell of small intestine		
http://purl.obolibrary.org/obo/CL_1000278	smooth muscle fiber of ileum	http://purl.obolibrary.org/obo/CL_1000275	smooth muscle cell of small intestine		
http://purl.obolibrary.org/obo/CL_1000280	smooth muscle cell of colon	http://purl.obolibrary.org/obo/CL_1000279	smooth muscle cell of large intestine		
http://purl.obolibrary.org/obo/CL_1000286	smooth muscle cell of rectum	http://purl.obolibrary.org/obo/CL_1000279	smooth muscle cell of large intestine		
http://purl.obolibrary.org/obo/CL_0009052	smooth muscle cell of anorectum	http://purl.obolibrary.org/obo/CL_1000279	smooth muscle cell of large intestine		
http://purl.obolibrary.org/obo/CL_1000281	smooth muscle cell of cecum	http://purl.obolibrary.org/obo/CL_1000280	smooth muscle cell of colon		
http://purl.obolibrary.org/obo/CL_1000282	smooth muscle fiber of ascending colon	http://purl.obolibrary.org/obo/CL_1000280	smooth muscle cell of colon		
http://purl.obolibrary.org/obo/CL_1000283	smooth muscle fiber of transverse colon	http://purl.obolibrary.org/obo/CL_1000280	smooth muscle cell of colon		
http://purl.obolibrary.org/obo/CL_1000284	smooth muscle fiber of descending colon	http://purl.obolibrary.org/obo/CL_1000280	smooth muscle cell of colon		
http://purl.obolibrary.org/obo/CL_1000285	smooth muscle cell of sigmoid colon	http://purl.obolibrary.org/obo/CL_1000280	smooth muscle cell of colon		
http://purl.obolibrary.org/obo/CL_0017003	epithelial cell of prostatic urethra	http://purl.obolibrary.org/obo/CL_1000296	epithelial cell of urethra		
http://purl.obolibrary.org/obo/CL_0002547	fibroblast of the aortic adventitia	http://purl.obolibrary.org/obo/CL_1000306	fibroblast of tunica adventitia of artery		
http://purl.obolibrary.org/obo/CL_1000310	adipocyte of epicardial fat of right ventricle	http://purl.obolibrary.org/obo/CL_1000309	epicardial adipocyte		
http://purl.obolibrary.org/obo/CL_1000311	adipocyte of epicardial fat of left ventricle	http://purl.obolibrary.org/obo/CL_1000309	epicardial adipocyte		
http://purl.obolibrary.org/obo/CL_1000324	duodenal goblet cell	http://purl.obolibrary.org/obo/CL_1001589	duodenum secretory cell		
http://purl.obolibrary.org/obo/CL_1000325	jejunal goblet cell	http://purl.obolibrary.org/obo/CL_1000317	intestinal villus goblet cell		
http://purl.obolibrary.org/obo/CL_1000326	ileal goblet cell	http://purl.obolibrary.org/obo/CL_1000317	intestinal villus goblet cell		
http://purl.obolibrary.org/obo/CL_1000327	appendix goblet cell	http://purl.obolibrary.org/obo/CL_1000405	epithelial cell of appendix		
http://purl.obolibrary.org/obo/CL_0009057	anorectum goblet cell	http://purl.obolibrary.org/obo/CL_1000320	large intestine goblet cell		
http://purl.obolibrary.org/obo/CL_0019021	endothelial cell of periportal hepatic sinusoid	http://purl.obolibrary.org/obo/CL_1000398	endothelial cell of hepatic sinusoid		
http://purl.obolibrary.org/obo/CL_0019022	endothelial cell of pericentral hepatic sinusoid	http://purl.obolibrary.org/obo/CL_1000398	endothelial cell of hepatic sinusoid		
http://purl.obolibrary.org/obo/CL_0009030	enteroendocrine cell of appendix	http://purl.obolibrary.org/obo/CL_1001516	intestinal enteroendocrine cell		
http://purl.obolibrary.org/obo/CL_1001096	kidney afferent arteriole endothelial cell	http://purl.obolibrary.org/obo/CL_1001006	kidney afferent arteriole cell		
http://purl.obolibrary.org/obo/CL_4033001	endothelial cell of arteriole of lymph node	http://purl.obolibrary.org/obo/CL_1000412	endothelial cell of arteriole		
http://purl.obolibrary.org/obo/CL_1001213	arcuate artery endothelial cell	http://purl.obolibrary.org/obo/CL_1001135	arcuate artery cell		
http://purl.obolibrary.org/obo/CL_1001216	interlobulary artery endothelial cell	http://purl.obolibrary.org/obo/CL_1001138	interlobular artery cell		
http://purl.obolibrary.org/obo/CL_1001568	pulmonary artery endothelial cell	http://purl.obolibrary.org/obo/CL_1000413	endothelial cell of artery		
http://purl.obolibrary.org/obo/CL_4033000	endothelial cell of venule of lymph node	http://purl.obolibrary.org/obo/CL_1000414	endothelial cell of venule		
http://purl.obolibrary.org/obo/CL_1000427	adrenal cortex chromaffin cell	http://purl.obolibrary.org/obo/CL_1001601	adrenal gland glandular cell		
http://purl.obolibrary.org/obo/CL_1000437	epithelial cell of nasolacrimal duct	http://purl.obolibrary.org/obo/CL_1000435	epithelial cell of lacrimal drainage system		
http://purl.obolibrary.org/obo/CL_1000436	epithelial cell of lacrimal sac	http://purl.obolibrary.org/obo/CL_1000437	epithelial cell of nasolacrimal duct		
http://purl.obolibrary.org/obo/CL_1000090	pronephric nephron tubule epithelial cell	http://purl.obolibrary.org/obo/CL_1000507	kidney tubule cell		
http://purl.obolibrary.org/obo/CL_1000123	metanephric nephron tubule epithelial cell	http://purl.obolibrary.org/obo/CL_1000507	kidney tubule cell		
http://purl.obolibrary.org/obo/CL_1000494	nephron tubule epithelial cell	http://purl.obolibrary.org/obo/CL_1000507	kidney tubule cell		
http://purl.obolibrary.org/obo/CL_0002482	dermal melanocyte	http://purl.obolibrary.org/obo/CL_1000458	melanocyte of skin		
http://purl.obolibrary.org/obo/CL_2000045	foreskin melanocyte	http://purl.obolibrary.org/obo/CL_1000458	melanocyte of skin		
http://purl.obolibrary.org/obo/CL_2000081	melanocyte of skin of face	http://purl.obolibrary.org/obo/CL_1000458	melanocyte of skin		
http://purl.obolibrary.org/obo/CL_1000466	chromaffin cell of right ovary	http://purl.obolibrary.org/obo/CL_1000465	chromaffin cell of ovary		
http://purl.obolibrary.org/obo/CL_1000467	chromaffin cell of left ovary	http://purl.obolibrary.org/obo/CL_1000465	chromaffin cell of ovary		
http://purl.obolibrary.org/obo/CL_0002538	intrahepatic cholangiocyte	http://purl.obolibrary.org/obo/CL_1000488	cholangiocyte		
http://purl.obolibrary.org/obo/CL_0019020	extrahepatic cholangiocyte	http://purl.obolibrary.org/obo/CL_1000488	cholangiocyte		
http://purl.obolibrary.org/obo/CL_1000456	mesothelial cell of parietal peritoneum	http://purl.obolibrary.org/obo/CL_1000490	mesothelial cell of peritoneum		
http://purl.obolibrary.org/obo/CL_1000457	mesothelial cell of visceral peritoneum	http://purl.obolibrary.org/obo/CL_1000490	mesothelial cell of peritoneum		
http://purl.obolibrary.org/obo/CL_1000492	mesothelial cell of parietal pleura	http://purl.obolibrary.org/obo/CL_1000491	mesothelial cell of pleura		
http://purl.obolibrary.org/obo/CL_1000493	mesothelial cell of visceral pleura	http://purl.obolibrary.org/obo/CL_1000491	mesothelial cell of pleura		
http://purl.obolibrary.org/obo/CL_1000909	kidney loop of Henle epithelial cell	http://purl.obolibrary.org/obo/CL_1000494	nephron tubule epithelial cell		
http://purl.obolibrary.org/obo/CL_1000317	intestinal villus goblet cell	http://purl.obolibrary.org/obo/CL_1000495	small intestine goblet cell		
http://purl.obolibrary.org/obo/CL_1000504	kidney medulla cell	http://purl.obolibrary.org/obo/CL_1000497	kidney cell		
http://purl.obolibrary.org/obo/CL_1000682	kidney medulla interstitial cell	http://purl.obolibrary.org/obo/CL_1000504	kidney medulla cell		
http://purl.obolibrary.org/obo/CL_1000616	kidney outer medulla cell	http://purl.obolibrary.org/obo/CL_1000504	kidney medulla cell		
http://purl.obolibrary.org/obo/CL_1000617	kidney inner medulla cell	http://purl.obolibrary.org/obo/CL_1000504	kidney medulla cell		
http://purl.obolibrary.org/obo/CL_1000450	epithelial cell of glomerular capsule	http://purl.obolibrary.org/obo/CL_1000510	kidney glomerular epithelial cell		
http://purl.obolibrary.org/obo/CL_1000718	kidney inner medulla collecting duct principal cell	http://purl.obolibrary.org/obo/CL_1001431	kidney collecting duct principal cell		
http://purl.obolibrary.org/obo/CL_1000716	kidney outer medulla collecting duct principal cell	http://purl.obolibrary.org/obo/CL_1001431	kidney collecting duct principal cell		
http://purl.obolibrary.org/obo/CL_1000714	kidney cortex collecting duct principal cell	http://purl.obolibrary.org/obo/CL_1001431	kidney collecting duct principal cell		
http://purl.obolibrary.org/obo/CL_1001319	bladder cell	http://purl.obolibrary.org/obo/CL_1000600	lower urinary tract cell		
http://purl.obolibrary.org/obo/CL_1001320	urethra cell	http://purl.obolibrary.org/obo/CL_1000600	lower urinary tract cell		
http://purl.obolibrary.org/obo/CL_1000746	glomerular cell	http://purl.obolibrary.org/obo/CL_1000612	kidney corpuscule cell		
http://purl.obolibrary.org/obo/CL_1000804	kidney outer medulla interstitial cell	http://purl.obolibrary.org/obo/CL_1000682	kidney medulla interstitial cell		
http://purl.obolibrary.org/obo/CL_1000803	kidney inner medulla interstitial cell	http://purl.obolibrary.org/obo/CL_1000682	kidney medulla interstitial cell		
http://purl.obolibrary.org/obo/CL_4030025	renal cortical fibroblast	http://purl.obolibrary.org/obo/CL_1000692	kidney interstitial fibroblast		
http://purl.obolibrary.org/obo/CL_4030022	renal medullary fibroblast	http://purl.obolibrary.org/obo/CL_1000692	kidney interstitial fibroblast		
http://purl.obolibrary.org/obo/CL_1000510	kidney glomerular epithelial cell	http://purl.obolibrary.org/obo/CL_1000746	glomerular cell		
http://purl.obolibrary.org/obo/CL_1000891	kidney arterial blood vessel cell	http://purl.obolibrary.org/obo/CL_1000854	kidney blood vessel cell		
http://purl.obolibrary.org/obo/CL_1000893	kidney venous blood vessel cell	http://purl.obolibrary.org/obo/CL_1000854	kidney blood vessel cell		
http://purl.obolibrary.org/obo/CL_1001064	kidney artery smooth muscle cell	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_1001066	kidney arteriole smooth muscle cell	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_1000453	epithelial cell of intermediate tubule	http://purl.obolibrary.org/obo/CL_1000909	kidney loop of Henle epithelial cell		
http://purl.obolibrary.org/obo/CL_1001021	kidney loop of Henle descending limb epithelial cell	http://purl.obolibrary.org/obo/CL_1000909	kidney loop of Henle epithelial cell		
http://purl.obolibrary.org/obo/CL_1001097	kidney afferent arteriole smooth muscle cell	http://purl.obolibrary.org/obo/CL_0008035	microcirculation associated smooth muscle cell		
http://purl.obolibrary.org/obo/CL_1001135	arcuate artery cell	http://purl.obolibrary.org/obo/CL_1001045	kidney cortex artery cell		
http://purl.obolibrary.org/obo/CL_1001138	interlobular artery cell	http://purl.obolibrary.org/obo/CL_1001045	kidney cortex artery cell		
http://purl.obolibrary.org/obo/CL_1001214	arcuate artery smooth muscle cell	http://purl.obolibrary.org/obo/CL_1001135	arcuate artery cell		
http://purl.obolibrary.org/obo/CL_1001217	interlobulary artery smooth muscle cell	http://purl.obolibrary.org/obo/CL_1001138	interlobular artery cell		
http://purl.obolibrary.org/obo/CL_2000040	bladder microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_2000065	ovarian microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_1000442	urothelial cell of trigone of urinary bladder	http://purl.obolibrary.org/obo/CL_1001428	bladder urothelial cell		
http://purl.obolibrary.org/obo/CL_0002080	pancreatic centro-acinar cell	http://purl.obolibrary.org/obo/CL_1001433	epithelial cell of exocrine pancreas		
http://purl.obolibrary.org/obo/CL_1001502	mitral cell	http://purl.obolibrary.org/obo/CL_1001434	olfactory bulb interneuron		
http://purl.obolibrary.org/obo/CL_0009006	enteroendocrine cell of small intestine	http://purl.obolibrary.org/obo/CL_1001598	small intestine secretory cell		
http://purl.obolibrary.org/obo/CL_2000016	lung microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_1001580	hippocampal glial cell	http://purl.obolibrary.org/obo/CL_1001579	cerebral cortex glial cell		
http://purl.obolibrary.org/obo/CL_1001589	duodenum secretory cell	http://purl.obolibrary.org/obo/CL_1001598	small intestine secretory cell		
http://purl.obolibrary.org/obo/CL_2000007	articular chondrocyte of knee joint	http://purl.obolibrary.org/obo/CL_1001607	articular chondrocyte		
http://purl.obolibrary.org/obo/HP_0005484	Secondary microcephaly	http://purl.obolibrary.org/obo/HP_0000252	Microcephaly		
http://purl.obolibrary.org/obo/HP_0000153	Abnormality of the mouth	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000290	Abnormal forehead morphology	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000309	Abnormal midface morphology	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000315	Abnormality of the orbital region	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000366	Abnormality of the nose	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000606	Abnormality of the periorbital region	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0001999	Abnormal facial shape	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0002006	Tessier cleft	http://purl.obolibrary.org/obo/HP_5201015	Craniofacial cleft		
http://purl.obolibrary.org/obo/HP_0011799	Abnormality of facial soft tissue	http://purl.obolibrary.org/obo/HP_0000271	Abnormality of the face		
http://purl.obolibrary.org/obo/HP_0000308	Microretrognathia	http://purl.obolibrary.org/obo/HP_0000347	Micrognathia		
http://purl.obolibrary.org/obo/HP_0001730	Progressive hearing impairment	http://purl.obolibrary.org/obo/HP_0000365	Hearing impairment		
http://purl.obolibrary.org/obo/HP_0008607	Progressive conductive hearing impairment	http://purl.obolibrary.org/obo/HP_0000405	Conductive hearing impairment		
http://purl.obolibrary.org/obo/HP_0001096	Keratoconjunctivitis	http://purl.obolibrary.org/obo/HP_0000509	Conjunctivitis		
http://purl.obolibrary.org/obo/HP_0000510	Rod-cone dystrophy	http://purl.obolibrary.org/obo/HP_0000556	Retinal dystrophy		
http://purl.obolibrary.org/obo/HP_0012638	Abnormal nervous system physiology	http://purl.obolibrary.org/obo/HP_0000707	Abnormality of the nervous system		
http://purl.obolibrary.org/obo/HP_0012639	Abnormal nervous system morphology	http://purl.obolibrary.org/obo/HP_0000707	Abnormality of the nervous system		
http://purl.obolibrary.org/obo/HP_0410008	Abnormality of the peripheral nervous system	http://purl.obolibrary.org/obo/HP_0000707	Abnormality of the nervous system		
http://purl.obolibrary.org/obo/HP_0010515	Aplasia/Hypoplasia of the thymus	http://purl.obolibrary.org/obo/HP_0000777	Abnormal thymus morphology		
http://purl.obolibrary.org/obo/HP_0010516	Thymus hyperplasia	http://purl.obolibrary.org/obo/HP_0000777	Abnormal thymus morphology		
http://purl.obolibrary.org/obo/HP_0010517	Ectopic thymus tissue	http://purl.obolibrary.org/obo/HP_0000777	Abnormal thymus morphology		
http://purl.obolibrary.org/obo/HP_0010766	Ectopic calcification	http://purl.obolibrary.org/obo/HP_0000924	Abnormality of the skeletal system		
http://purl.obolibrary.org/obo/HP_0011842	Abnormal skeletal morphology	http://purl.obolibrary.org/obo/HP_0000924	Abnormality of the skeletal system		
http://purl.obolibrary.org/obo/HP_0040068	Abnormality of limb bone	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0004558	Cervical platyspondyly	http://purl.obolibrary.org/obo/HP_0046508	Abnormal cervical spine morphology		
http://purl.obolibrary.org/obo/HP_0004565	Severe platyspondyly	http://purl.obolibrary.org/obo/HP_0000926	Platyspondyly		
http://purl.obolibrary.org/obo/HP_0004592	Thoracic platyspondyly	http://purl.obolibrary.org/obo/HP_0000926	Platyspondyly		
http://purl.obolibrary.org/obo/HP_0005787	Lumbar platyspondyly	http://purl.obolibrary.org/obo/HP_0000926	Platyspondyly		
http://purl.obolibrary.org/obo/HP_0010765	Palmar hyperkeratosis	http://purl.obolibrary.org/obo/HP_0040211	Abnormal skin morphology of the palm		
http://purl.obolibrary.org/obo/HP_0001051	Seborrheic dermatitis	http://purl.obolibrary.org/obo/HP_0000964	Eczematoid dermatitis		
http://purl.obolibrary.org/obo/HP_0001004	Lymphedema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0001789	Hydrops fetalis	http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology		
http://purl.obolibrary.org/obo/HP_0007430	Generalized edema	http://purl.obolibrary.org/obo/HP_0000969	Edema		
http://purl.obolibrary.org/obo/HP_0011855	Pharyngeal edema	http://purl.obolibrary.org/obo/HP_0033151	Abnormal pharynx morphology		
http://purl.obolibrary.org/obo/HP_0012040	Corneal stromal edema	http://purl.obolibrary.org/obo/HP_0011492	Abnormal corneal stroma morphology		
http://purl.obolibrary.org/obo/HP_0000982	Palmoplantar keratoderma	http://purl.obolibrary.org/obo/HP_0000972	Palmoplantar hyperkeratosis		
http://purl.obolibrary.org/obo/HP_0007447	Diffuse palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/HP_0000972	Palmoplantar hyperkeratosis		
http://purl.obolibrary.org/obo/HP_0000953	Hyperpigmentation of the skin	http://purl.obolibrary.org/obo/HP_0001000	Abnormality of skin pigmentation		
http://purl.obolibrary.org/obo/HP_0001010	Hypopigmentation of the skin	http://purl.obolibrary.org/obo/HP_0001000	Abnormality of skin pigmentation		
http://purl.obolibrary.org/obo/HP_0004788	Intestinal lymphedema	http://purl.obolibrary.org/obo/HP_0005225	Intestinal edema		
http://purl.obolibrary.org/obo/HP_0006101	Finger syndactyly	http://purl.obolibrary.org/obo/HP_0001159	Syndactyly		
http://purl.obolibrary.org/obo/HP_0012725	Cutaneous syndactyly	http://purl.obolibrary.org/obo/HP_0001159	Syndactyly		
http://purl.obolibrary.org/obo/HP_0010864	Severe intellectual disability	http://purl.obolibrary.org/obo/HP_0001249	Intellectual disability		
http://purl.obolibrary.org/obo/HP_0002197	Generalized-onset seizure	http://purl.obolibrary.org/obo/HP_0001250	Seizure		
http://purl.obolibrary.org/obo/HP_0011146	Dialeptic seizure	http://purl.obolibrary.org/obo/HP_0001250	Seizure		
http://purl.obolibrary.org/obo/HP_0002069	Bilateral tonic-clonic seizure	http://purl.obolibrary.org/obo/HP_0001250	Seizure		
http://purl.obolibrary.org/obo/HP_0033259	Non-motor seizure	http://purl.obolibrary.org/obo/HP_0001250	Seizure		
http://purl.obolibrary.org/obo/HP_0020219	Motor seizure	http://purl.obolibrary.org/obo/HP_0001250	Seizure		
http://purl.obolibrary.org/obo/HP_0032892	Infection-related seizure	http://purl.obolibrary.org/obo/HP_0001250	Seizure		
http://purl.obolibrary.org/obo/HP_0001290	Generalized hypotonia	http://purl.obolibrary.org/obo/HP_0001252	Hypotonia		
http://purl.obolibrary.org/obo/HP_0006829	Severe muscular hypotonia	http://purl.obolibrary.org/obo/HP_0001252	Hypotonia		
http://purl.obolibrary.org/obo/HP_0008936	Axial hypotonia	http://purl.obolibrary.org/obo/HP_0001252	Hypotonia		
http://purl.obolibrary.org/obo/HP_0002063	Rigidity	http://purl.obolibrary.org/obo/HP_0001276	Hypertonia		
http://purl.obolibrary.org/obo/HP_0000467	Neck muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0003323	Progressive muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0003324	Generalized muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0003327	Axial muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0003701	Proximal muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0009023	Abdominal wall muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0009113	Diaphragmatic weakness	http://purl.obolibrary.org/obo/HP_0001324	Muscle weakness		
http://purl.obolibrary.org/obo/HP_0001370	Rheumatoid arthritis	http://purl.obolibrary.org/obo/HP_0001369	Arthritis		
http://purl.obolibrary.org/obo/HP_0001997	Gout	http://purl.obolibrary.org/obo/HP_0001369	Arthritis		
http://purl.obolibrary.org/obo/HP_0030310	Upper extremity joint dislocation	http://purl.obolibrary.org/obo/HP_0001373	Joint dislocation		
http://purl.obolibrary.org/obo/HP_0030311	Lower extremity joint dislocation	http://purl.obolibrary.org/obo/HP_0001373	Joint dislocation		
http://purl.obolibrary.org/obo/HP_0005198	Stiff interphalangeal joints	http://purl.obolibrary.org/obo/HP_0001387	Joint stiffness		
http://purl.obolibrary.org/obo/HP_0009742	Stiff shoulders	http://purl.obolibrary.org/obo/HP_0033129	Abnormal shoulder physiology		
http://purl.obolibrary.org/obo/HP_0001511	Intrauterine growth retardation	http://purl.obolibrary.org/obo/HP_0001510	Growth delay		
http://purl.obolibrary.org/obo/HP_0001956	Truncal obesity	http://purl.obolibrary.org/obo/HP_0001513	Obesity		
http://purl.obolibrary.org/obo/HP_0012743	Abdominal obesity	http://purl.obolibrary.org/obo/HP_0001513	Obesity		
http://purl.obolibrary.org/obo/HP_0001735	Acute pancreatitis	http://purl.obolibrary.org/obo/HP_0001733	Pancreatitis		
http://purl.obolibrary.org/obo/HP_0004326	Cachexia	http://purl.obolibrary.org/obo/HP_0001824	Weight loss		
http://purl.obolibrary.org/obo/HP_0010972	Anemia of inadequate production	http://purl.obolibrary.org/obo/HP_0001903	Anemia		
http://purl.obolibrary.org/obo/HP_0011895	Anemia due to reduced life span of red cells	http://purl.obolibrary.org/obo/HP_0001903	Anemia		
http://purl.obolibrary.org/obo/HP_0005510	Transient erythroblastopenia	http://purl.obolibrary.org/obo/HP_0001903	Anemia		
http://purl.obolibrary.org/obo/HP_0001907	Thromboembolism	http://purl.obolibrary.org/obo/HP_0001977	Abnormal thrombosis		
http://purl.obolibrary.org/obo/HP_0004420	Arterial thrombosis	http://purl.obolibrary.org/obo/HP_0001977	Abnormal thrombosis		
http://purl.obolibrary.org/obo/HP_0004936	Venous thrombosis	http://purl.obolibrary.org/obo/HP_0001977	Abnormal thrombosis		
http://purl.obolibrary.org/obo/HP_0001809	Split nail	http://purl.obolibrary.org/obo/HP_0002164	Nail dysplasia		
http://purl.obolibrary.org/obo/HP_0001821	Broad nail	http://purl.obolibrary.org/obo/HP_0002164	Nail dysplasia		
http://purl.obolibrary.org/obo/HP_0010793	Bifid nail	http://purl.obolibrary.org/obo/HP_0002164	Nail dysplasia		
http://purl.obolibrary.org/obo/HP_0011313	Narrow nail	http://purl.obolibrary.org/obo/HP_0002164	Nail dysplasia		
http://purl.obolibrary.org/obo/HP_0002248	Hematemesis	http://purl.obolibrary.org/obo/HP_0002239	Gastrointestinal hemorrhage		
http://purl.obolibrary.org/obo/HP_0002249	Melena	http://purl.obolibrary.org/obo/HP_0025085	Bloody diarrhea		
http://purl.obolibrary.org/obo/HP_0002573	Hematochezia	http://purl.obolibrary.org/obo/HP_0025085	Bloody diarrhea		
http://purl.obolibrary.org/obo/HP_0007017	Progressive forgetfulness	http://purl.obolibrary.org/obo/HP_0002354	Memory impairment		
http://purl.obolibrary.org/obo/HP_0005374	Cellular immunodeficiency	http://purl.obolibrary.org/obo/HP_0002721	Immunodeficiency		
http://purl.obolibrary.org/obo/HP_0005387	Combined immunodeficiency	http://purl.obolibrary.org/obo/HP_0002721	Immunodeficiency		
http://purl.obolibrary.org/obo/HP_0002725	Systemic lupus erythematosus	http://purl.obolibrary.org/obo/HP_0002960	Autoimmunity		
http://purl.obolibrary.org/obo/HP_0003693	Distal amyotrophy	http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy		
http://purl.obolibrary.org/obo/HP_0003700	Generalized amyotrophy	http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy		
http://purl.obolibrary.org/obo/HP_0007126	Proximal amyotrophy	http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy		
http://purl.obolibrary.org/obo/HP_0007210	Lower limb amyotrophy	http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy		
http://purl.obolibrary.org/obo/HP_0007269	Spinal muscular atrophy	http://purl.obolibrary.org/obo/HP_0003202	Skeletal muscle atrophy		
http://purl.obolibrary.org/obo/HP_0002938	Lumbar hyperlordosis	http://purl.obolibrary.org/obo/HP_0003307	Hyperlordosis		
http://purl.obolibrary.org/obo/HP_0001605	Vocal cord paralysis	http://purl.obolibrary.org/obo/HP_0031801	Vocal cord dysfunction		
http://purl.obolibrary.org/obo/HP_0006597	Diaphragmatic paralysis	http://purl.obolibrary.org/obo/HP_0009113	Diaphragmatic weakness		
http://purl.obolibrary.org/obo/HP_0010831	Impaired proprioception	http://purl.obolibrary.org/obo/HP_0003474	Somatic sensory dysfunction		
http://purl.obolibrary.org/obo/HP_0003577	Congenital onset	http://purl.obolibrary.org/obo/HP_0003674	Onset		
http://purl.obolibrary.org/obo/HP_0003581	Adult onset	http://purl.obolibrary.org/obo/HP_0003674	Onset		
http://purl.obolibrary.org/obo/HP_0003623	Neonatal onset	http://purl.obolibrary.org/obo/HP_0003674	Onset		
http://purl.obolibrary.org/obo/HP_0410280	Pediatric onset	http://purl.obolibrary.org/obo/HP_0003674	Onset		
http://purl.obolibrary.org/obo/HP_0004213	Abnormal 5th finger phalanx morphology	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0006262	Aplasia/Hypoplasia of the 5th finger	http://purl.obolibrary.org/obo/HP_0006265	Aplasia/Hypoplasia of fingers		
http://purl.obolibrary.org/obo/HP_0009152	Abnormality of the epiphyses of the 5th finger	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009183	Joint contracture of the 5th finger	http://purl.obolibrary.org/obo/HP_0012785	Flexion contracture of finger		
http://purl.obolibrary.org/obo/HP_0001663	Ventricular fibrillation	http://purl.obolibrary.org/obo/HP_0004308	Ventricular arrhythmia		
http://purl.obolibrary.org/obo/HP_0002850	Decreased circulating total IgM	http://purl.obolibrary.org/obo/HP_0410243	Abnormal circulating IgM concentration		
http://purl.obolibrary.org/obo/HP_0003498	Disproportionate short stature	http://purl.obolibrary.org/obo/HP_0004322	Short stature		
http://purl.obolibrary.org/obo/HP_0003508	Proportionate short stature	http://purl.obolibrary.org/obo/HP_0004322	Short stature		
http://purl.obolibrary.org/obo/HP_0002206	Pulmonary fibrosis	http://purl.obolibrary.org/obo/HP_0006530	Abnormal pulmonary interstitial morphology		
http://purl.obolibrary.org/obo/HP_0002231	Sparse body hair	http://purl.obolibrary.org/obo/HP_0008070	Sparse hair		
http://purl.obolibrary.org/obo/HP_0002296	Progressive hypotrichosis	http://purl.obolibrary.org/obo/HP_0008070	Sparse hair		
http://purl.obolibrary.org/obo/HP_0004528	Generalized hypotrichosis	http://purl.obolibrary.org/obo/HP_0008070	Sparse hair		
http://purl.obolibrary.org/obo/HP_0009064	Generalized lipodystrophy	http://purl.obolibrary.org/obo/HP_0009125	Lipodystrophy		
http://purl.obolibrary.org/obo/HP_0011002	Osteopetrosis	http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density		
http://purl.obolibrary.org/obo/HP_0004054	Sclerosis of hand bone	http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density		
http://purl.obolibrary.org/obo/HP_0005789	Generalized osteosclerosis	http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density		
http://purl.obolibrary.org/obo/HP_0100925	Sclerosis of foot bone	http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density		
http://purl.obolibrary.org/obo/HP_0001581	Recurrent skin infections	http://purl.obolibrary.org/obo/HP_0011123	Inflammatory abnormality of the skin		
http://purl.obolibrary.org/obo/HP_0000964	Eczematoid dermatitis	http://purl.obolibrary.org/obo/HP_0011123	Inflammatory abnormality of the skin		
http://purl.obolibrary.org/obo/HP_0000988	Skin rash	http://purl.obolibrary.org/obo/HP_0011123	Inflammatory abnormality of the skin		
http://purl.obolibrary.org/obo/HP_0012219	Erythema nodosum	http://purl.obolibrary.org/obo/HP_0011123	Inflammatory abnormality of the skin		
http://purl.obolibrary.org/obo/NCBITaxon_12870	Variola major virus	http://purl.obolibrary.org/obo/NCBITaxon_10255	Variola virus		
http://purl.obolibrary.org/obo/NCBITaxon_11077	Kunjin virus	http://purl.obolibrary.org/obo/NCBITaxon_11082	West Nile virus		
http://purl.obolibrary.org/obo/NCBITaxon_121224	Pediculus humanus corporis	http://purl.obolibrary.org/obo/NCBITaxon_121225	Pediculus humanus		
http://purl.obolibrary.org/obo/NCBITaxon_121226	Pediculus humanus capitis	http://purl.obolibrary.org/obo/NCBITaxon_121225	Pediculus humanus		
http://purl.obolibrary.org/obo/NCBITaxon_11053	dengue virus type 1	http://purl.obolibrary.org/obo/NCBITaxon_12637	Dengue virus		
http://purl.obolibrary.org/obo/NCBITaxon_47466	Borrelia miyamotoi	http://purl.obolibrary.org/obo/NCBITaxon_138	Borrelia		
http://purl.obolibrary.org/obo/NCBITaxon_1639	Listeria monocytogenes	http://purl.obolibrary.org/obo/NCBITaxon_1637	Listeria		
http://purl.obolibrary.org/obo/NCBITaxon_10566	Human papillomavirus	http://purl.obolibrary.org/obo/NCBITaxon_173087	Human papillomavirus types		
http://purl.obolibrary.org/obo/NCBITaxon_68525	delta/epsilon subdivisions	http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria		
http://purl.obolibrary.org/obo/NCBITaxon_1783272	Bacillati	http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria		
http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati	http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria		
http://purl.obolibrary.org/obo/NCBITaxon_172148	Alkhumra hemorrhagic fever virus	http://purl.obolibrary.org/obo/NCBITaxon_33743	Kyasanur Forest disease virus		
http://purl.obolibrary.org/obo/NCBITaxon_34620	Dermacentor andersoni	http://purl.obolibrary.org/obo/NCBITaxon_34619	Dermacentor		
http://purl.obolibrary.org/obo/NCBITaxon_34621	Dermacentor variabilis	http://purl.obolibrary.org/obo/NCBITaxon_34619	Dermacentor		
http://purl.obolibrary.org/obo/NCBITaxon_49202	Dermacentor marginatus	http://purl.obolibrary.org/obo/NCBITaxon_34619	Dermacentor		
http://purl.obolibrary.org/obo/NCBITaxon_451864	Dikarya	http://purl.obolibrary.org/obo/NCBITaxon_4751	Fungi		
http://purl.obolibrary.org/obo/NCBITaxon_112252	Fungi incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_4751	Fungi		
http://purl.obolibrary.org/obo/NCBITaxon_451866	Taphrinomycotina	http://purl.obolibrary.org/obo/NCBITaxon_4890	Ascomycota		
http://purl.obolibrary.org/obo/NCBITaxon_716545	saccharomyceta	http://purl.obolibrary.org/obo/NCBITaxon_4890	Ascomycota		
http://purl.obolibrary.org/obo/NCBITaxon_523103	Trichophyton mentagrophytes	http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton		
http://purl.obolibrary.org/obo/NCBITaxon_63417	Trichophyton verrucosum	http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton		
http://purl.obolibrary.org/obo/NCBITaxon_63419	Trichophyton concentricum	http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton		
http://purl.obolibrary.org/obo/NCBITaxon_5553	Trichosporon beigelii	http://purl.obolibrary.org/obo/NCBITaxon_5552	Trichosporon		
http://purl.obolibrary.org/obo/NCBITaxon_418103	Plasmodium (Plasmodium)	http://purl.obolibrary.org/obo/NCBITaxon_5820	Plasmodium		
http://purl.obolibrary.org/obo/NCBITaxon_418107	Plasmodium (Laverania)	http://purl.obolibrary.org/obo/NCBITaxon_5820	Plasmodium		
http://purl.obolibrary.org/obo/NCBITaxon_29930	Ixodes pacificus	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_34613	Ixodes ricinus	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_65647	Ixodes holocyclus	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_6945	Ixodes scapularis	http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes		
http://purl.obolibrary.org/obo/NCBITaxon_53527	Culex <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_7174	Culex <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group	http://purl.obolibrary.org/obo/NCBITaxon_780	Rickettsia		
http://purl.obolibrary.org/obo/NCBITaxon_114292	typhus group	http://purl.obolibrary.org/obo/NCBITaxon_780	Rickettsia		
http://purl.obolibrary.org/obo/NCBITaxon_226665	Rickettsia conorii subsp. heilongjiangensis	http://purl.obolibrary.org/obo/NCBITaxon_781	Rickettsia conorii		
http://purl.obolibrary.org/obo/NCBITaxon_317865	Rickettsia conorii subsp. indica	http://purl.obolibrary.org/obo/NCBITaxon_781	Rickettsia conorii		
http://purl.obolibrary.org/obo/NCBITaxon_302011	Rickettsia conorii subsp. caspia	http://purl.obolibrary.org/obo/NCBITaxon_781	Rickettsia conorii		
http://purl.obolibrary.org/obo/NCBITaxon_272561	Chlamydia trachomatis D/UW-3/CX	http://purl.obolibrary.org/obo/NCBITaxon_813	Chlamydia trachomatis		
http://purl.obolibrary.org/obo/NCBITaxon_471472	Chlamydia trachomatis L2/434/Bu	http://purl.obolibrary.org/obo/NCBITaxon_813	Chlamydia trachomatis		
http://purl.obolibrary.org/obo/UBERON_0001085	skin of trunk	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_0001331	skin of penis	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001417	skin of neck	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_0001419	skin of limb	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_0001483	skin of shoulder	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_0001554	skin of hip	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_0003534	tail skin	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_0012180	head or neck skin	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_8480074	skin of gonad	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_8480025	skin of clavicle region	http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin		
http://purl.obolibrary.org/obo/UBERON_8480029	skin of external genitalia	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000970	eye	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_0001723	tongue	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0000005	chemosensory organ	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_0001690	ear	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002268	olfactory organ	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_0002536	arthropod sensillum	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_0010230	eyeball of camera-type eye	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_6002639	insect larval sense organ	http://purl.obolibrary.org/obo/UBERON_0000020	sense organ		
http://purl.obolibrary.org/obo/UBERON_0002429	cervical lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0002507	abdominal lymph node	http://purl.obolibrary.org/obo/UBERON_0005172	abdomen element		
http://purl.obolibrary.org/obo/UBERON_0003425	renal lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0003968	peripheral lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0007644	thoracic lymph node	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0015453	subcutaneous lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0015870	lymph node of head	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0015917	superficial lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0015918	deep lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0016398	lymph node of lower limb	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0016399	lymph node of upper limb	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0016481	bronchial lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0035371	retroperitoneal lymph node	http://purl.obolibrary.org/obo/UBERON_0002075	viscus		
http://purl.obolibrary.org/obo/UBERON_0035764	pulmonary lymph node	http://purl.obolibrary.org/obo/UBERON_0000029	lymph node		
http://purl.obolibrary.org/obo/UBERON_0001222	right ureter	http://purl.obolibrary.org/obo/UBERON_0000056	ureter		
http://purl.obolibrary.org/obo/UBERON_0001223	left ureter	http://purl.obolibrary.org/obo/UBERON_0000056	ureter		
http://purl.obolibrary.org/obo/UBERON_8470000	placental blood	http://purl.obolibrary.org/obo/UBERON_0000178	blood		
http://purl.obolibrary.org/obo/UBERON_0013755	arterial blood	http://purl.obolibrary.org/obo/UBERON_0000178	blood		
http://purl.obolibrary.org/obo/UBERON_0013756	venous blood	http://purl.obolibrary.org/obo/UBERON_0000178	blood		
http://purl.obolibrary.org/obo/UBERON_0013757	capillary blood	http://purl.obolibrary.org/obo/UBERON_0000178	blood		
http://purl.obolibrary.org/obo/UBERON_0001007	digestive system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002390	hematopoietic system	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0007798	vascular system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0000990	reproductive system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0001004	respiratory system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0001016	nervous system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0001750	lacrimal apparatus	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002204	musculoskeletal system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002330	exocrine system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002416	integumental system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0004535	cardiovascular system	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0005409	alimentary part of gastrointestinal system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0001009	circulatory system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0001033	gustatory system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002193	hemolymphoid system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0002465	lymphoid system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0004092	hypothalamus-pituitary axis	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0004100	renal collecting system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0004122	genitourinary system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0004456	entire sense organ system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0005281	ventricular system of central nervous system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0005282	ventricular system of brain	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0012125	dermatological-muscosal system	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_8600018	neuroendocrine system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_8450002	excretory system	http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system		
http://purl.obolibrary.org/obo/UBERON_0008823	neural tube derived brain	http://purl.obolibrary.org/obo/UBERON_0000489	cavitated compound organ		
http://purl.obolibrary.org/obo/UBERON_0000047	simple eye	http://purl.obolibrary.org/obo/UBERON_0000970	eye		
http://purl.obolibrary.org/obo/UBERON_0000971	ommatidium	http://purl.obolibrary.org/obo/UBERON_0002536	arthropod sensillum		
http://purl.obolibrary.org/obo/UBERON_0004548	left eye	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0004549	right eye	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0015165	multi-unit eye	http://purl.obolibrary.org/obo/UBERON_0000970	eye		
http://purl.obolibrary.org/obo/UBERON_0000079	male reproductive system	http://purl.obolibrary.org/obo/UBERON_0000990	reproductive system		
http://purl.obolibrary.org/obo/UBERON_0000474	female reproductive system	http://purl.obolibrary.org/obo/UBERON_0000990	reproductive system		
http://purl.obolibrary.org/obo/UBERON_0002118	right ovary	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002119	left ovary	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0009098	gravid uterus	http://purl.obolibrary.org/obo/UBERON_0000995	uterus		
http://purl.obolibrary.org/obo/UBERON_0004681	vestibular system	http://purl.obolibrary.org/obo/UBERON_0001032	sensory system		
http://purl.obolibrary.org/obo/UBERON_0002104	visual system	http://purl.obolibrary.org/obo/UBERON_0001032	sensory system		
http://purl.obolibrary.org/obo/UBERON_0002105	vestibulo-auditory system	http://purl.obolibrary.org/obo/UBERON_0001032	sensory system		
http://purl.obolibrary.org/obo/UBERON_0003942	somatosensory system	http://purl.obolibrary.org/obo/UBERON_0001032	sensory system		
http://purl.obolibrary.org/obo/UBERON_0005726	chemosensory system	http://purl.obolibrary.org/obo/UBERON_0001032	sensory system		
http://purl.obolibrary.org/obo/UBERON_0007037	mechanosensory system	http://purl.obolibrary.org/obo/UBERON_0001032	sensory system		
http://purl.obolibrary.org/obo/UBERON_0001829	major salivary gland	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001830	minor salivary gland	http://purl.obolibrary.org/obo/UBERON_0001044	saliva-secreting gland		
http://purl.obolibrary.org/obo/UBERON_0012102	buccal salivary gland	http://purl.obolibrary.org/obo/UBERON_0001044	saliva-secreting gland		
http://purl.obolibrary.org/obo/UBERON_0003267	tooth of upper jaw	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0003268	tooth of lower jaw	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0010879	tusk	http://purl.obolibrary.org/obo/UBERON_0001091	calcareous tooth		
http://purl.obolibrary.org/obo/UBERON_0003269	skeletal muscle tissue of eye	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0003898	skeletal muscle tissue of trunk	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004500	skeletal muscle tissue of deltoid	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004502	skeletal muscle tissue of biceps brachii	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004509	skeletal muscle tissue of trapezius	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004520	striated muscle tissue of prostate	http://purl.obolibrary.org/obo/UBERON_0008715	muscle tissue of prostate		
http://purl.obolibrary.org/obo/UBERON_0004829	urethra skeletal muscle tissue	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004830	respiratory system skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004831	esophagus skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004832	anal region skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004833	lip skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0008713	pectoral girdle and thoracic body wall skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0001185	right renal artery	http://purl.obolibrary.org/obo/UBERON_0001184	renal artery		
http://purl.obolibrary.org/obo/UBERON_0001186	left renal artery	http://purl.obolibrary.org/obo/UBERON_0001184	renal artery		
http://purl.obolibrary.org/obo/UBERON_0012248	cervical mucosa	http://purl.obolibrary.org/obo/UBERON_0001295	endometrium		
http://purl.obolibrary.org/obo/UBERON_0004363	pharyngeal arch artery	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002012	pulmonary artery	http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart		
http://purl.obolibrary.org/obo/UBERON_0035307	branch of vertebral artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0035398	branch of external carotid artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0035489	branch of basilar artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0000457	cavernous artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001190	ovarian artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001193	hepatic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001194	splenic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001196	middle colic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001197	ileocolic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001310	umbilical artery	http://purl.obolibrary.org/obo/UBERON_0010260	umbilical blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001355	deep femoral artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001356	medial circumflex femoral artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001394	axillary artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001397	subscapular artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001552	kidney arcuate artery	http://purl.obolibrary.org/obo/UBERON_0003644	kidney arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001611	sublingual artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001616	maxillary artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001619	ophthalmic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001620	central retinal artery	http://purl.obolibrary.org/obo/UBERON_0003501	retina blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001622	lacrimal artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001632	temporal artery	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001651	right pulmonary artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0001652	left pulmonary artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0002011	thoracodorsal artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0002060	femoral artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0002061	truncus arteriosus	http://purl.obolibrary.org/obo/UBERON_0003498	heart blood vessel		
http://purl.obolibrary.org/obo/UBERON_0002270	hyaloid artery	http://purl.obolibrary.org/obo/UBERON_0005492	hyaloid vessel		
http://purl.obolibrary.org/obo/UBERON_0002333	pulmonary trunk	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0002457	intersomitic artery	http://purl.obolibrary.org/obo/UBERON_0014907	intersomitic vessel		
http://purl.obolibrary.org/obo/UBERON_0003086	caudal artery	http://purl.obolibrary.org/obo/UBERON_0003524	tail blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003469	respiratory system artery	http://purl.obolibrary.org/obo/UBERON_0003643	respiratory system arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003472	cerebellar artery	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003473	thoracic cavity artery	http://purl.obolibrary.org/obo/UBERON_0003519	thoracic cavity blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003474	meningeal artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0003847	thyroid artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0004552	digital artery	http://purl.obolibrary.org/obo/UBERON_0003514	limb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0004688	costo-cervical trunk	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0005192	deferent duct artery	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0005268	renal cortex artery	http://purl.obolibrary.org/obo/UBERON_0003644	kidney arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005432	aortic sac	http://purl.obolibrary.org/obo/UBERON_0003498	heart blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005624	suprarenal artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0006002	vitelline artery	http://purl.obolibrary.org/obo/UBERON_0004365	vitelline blood vessel		
http://purl.obolibrary.org/obo/UBERON_0006347	communicating artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0006349	epigastric artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0009027	vesical artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0009655	auricular artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0009657	artery of lip	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0009885	interlobar artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0010399	spleen trabecular artery	http://purl.obolibrary.org/obo/UBERON_0003497	abdomen blood vessel		
http://purl.obolibrary.org/obo/UBERON_0011693	extraembryonic portion of umbilical artery	http://purl.obolibrary.org/obo/UBERON_0000478	extraembryonic structure		
http://purl.obolibrary.org/obo/UBERON_0012320	cervical artery	http://purl.obolibrary.org/obo/UBERON_0003502	neck blood vessel		
http://purl.obolibrary.org/obo/UBERON_0013151	choroidal artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0014770	palpebral artery	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0018243	thymic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0018255	jejunal artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_8410034	lymph node artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0039355	urethral artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0039222	cystic artery	http://purl.obolibrary.org/obo/UBERON_0015796	liver blood vessel		
http://purl.obolibrary.org/obo/UBERON_0039261	pancreatic artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_8410045	artery of appendix	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0035039	rectal artery	http://purl.obolibrary.org/obo/UBERON_0001637	artery		
http://purl.obolibrary.org/obo/UBERON_0009565	nail of manual digit	http://purl.obolibrary.org/obo/UBERON_0001705	nail		
http://purl.obolibrary.org/obo/UBERON_0009567	nail of pedal digit	http://purl.obolibrary.org/obo/UBERON_0001705	nail		
http://purl.obolibrary.org/obo/UBERON_0001712	upper eyelid	http://purl.obolibrary.org/obo/UBERON_0001711	eyelid		
http://purl.obolibrary.org/obo/UBERON_0001713	lower eyelid	http://purl.obolibrary.org/obo/UBERON_0001711	eyelid		
http://purl.obolibrary.org/obo/UBERON_0001742	epiglottic cartilage	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0000382	apocrine sweat gland	http://purl.obolibrary.org/obo/UBERON_0012177	skin apocrine gland		
http://purl.obolibrary.org/obo/UBERON_0000423	eccrine sweat gland	http://purl.obolibrary.org/obo/UBERON_0010243	merocrine gland		
http://purl.obolibrary.org/obo/UBERON_0007773	scrotal sweat gland	http://purl.obolibrary.org/obo/UBERON_0005399	male reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0001724	sphenoidal sinus	http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus		
http://purl.obolibrary.org/obo/UBERON_0001760	frontal sinus	http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus		
http://purl.obolibrary.org/obo/UBERON_0001764	maxillary sinus	http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus		
http://purl.obolibrary.org/obo/UBERON_0002453	ethmoid sinus	http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus		
http://purl.obolibrary.org/obo/UBERON_0001834	upper lip	http://purl.obolibrary.org/obo/UBERON_0001833	lip		
http://purl.obolibrary.org/obo/UBERON_0001835	lower lip	http://purl.obolibrary.org/obo/UBERON_0001833	lip		
http://purl.obolibrary.org/obo/UBERON_0002802	left parietal lobe	http://purl.obolibrary.org/obo/UBERON_0001872	parietal lobe		
http://purl.obolibrary.org/obo/UBERON_0002803	right parietal lobe	http://purl.obolibrary.org/obo/UBERON_0001872	parietal lobe		
http://purl.obolibrary.org/obo/UBERON_0001735	tonsillar ring	http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0002372	tonsil	http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001961	mucosa-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0001963	bronchial-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001961	mucosa-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0003526	respiratory system capillary	http://purl.obolibrary.org/obo/UBERON_0003504	respiratory system blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003527	kidney capillary	http://purl.obolibrary.org/obo/UBERON_0003517	kidney blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003909	sinusoid	http://purl.obolibrary.org/obo/UBERON_2005260	fenestrated capillary		
http://purl.obolibrary.org/obo/UBERON_0006966	coronary capillary	http://purl.obolibrary.org/obo/UBERON_0003498	heart blood vessel		
http://purl.obolibrary.org/obo/UBERON_2005260	fenestrated capillary	http://purl.obolibrary.org/obo/UBERON_0004638	blood vessel endothelium		
http://purl.obolibrary.org/obo/UBERON_8410068	capillary of small intestine	http://purl.obolibrary.org/obo/UBERON_0001982	capillary		
http://purl.obolibrary.org/obo/UBERON_8410056	capillary of anorectum	http://purl.obolibrary.org/obo/UBERON_0001982	capillary		
http://purl.obolibrary.org/obo/UBERON_8410057	capillary of colon	http://purl.obolibrary.org/obo/UBERON_0001982	capillary		
http://purl.obolibrary.org/obo/UBERON_0002167	right lung	http://purl.obolibrary.org/obo/UBERON_0002048	lung		
http://purl.obolibrary.org/obo/UBERON_0002168	left lung	http://purl.obolibrary.org/obo/UBERON_0002048	lung		
http://purl.obolibrary.org/obo/UBERON_0002102	forelimb	http://purl.obolibrary.org/obo/UBERON_0004710	pectoral appendage		
http://purl.obolibrary.org/obo/UBERON_0002103	hindlimb	http://purl.obolibrary.org/obo/UBERON_0004709	pelvic appendage		
http://purl.obolibrary.org/obo/UBERON_0000080	mesonephros	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000081	metanephros	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002120	pronephros	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004538	left kidney	http://purl.obolibrary.org/obo/UBERON_0002113	kidney		
http://purl.obolibrary.org/obo/UBERON_0004539	right kidney	http://purl.obolibrary.org/obo/UBERON_0002113	kidney		
http://purl.obolibrary.org/obo/UBERON_0001081	endocardium of ventricle	http://purl.obolibrary.org/obo/UBERON_0002165	endocardium		
http://purl.obolibrary.org/obo/UBERON_0002166	endocardium of atrium	http://purl.obolibrary.org/obo/UBERON_0002165	endocardium		
http://purl.obolibrary.org/obo/UBERON_0005243	interventricular septum endocardium	http://purl.obolibrary.org/obo/UBERON_0002165	endocardium		
http://purl.obolibrary.org/obo/UBERON_0002182	main bronchus	http://purl.obolibrary.org/obo/UBERON_0002185	bronchus		
http://purl.obolibrary.org/obo/UBERON_0035767	intrapulmonary bronchus	http://purl.obolibrary.org/obo/UBERON_0002185	bronchus		
http://purl.obolibrary.org/obo/UBERON_0007826	peritoneal mesentery	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0034696	fold of peritoneum	http://purl.obolibrary.org/obo/UBERON_0002358	peritoneum		
http://purl.obolibrary.org/obo/UBERON_0000007	pituitary gland	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001132	parathyroid gland	http://purl.obolibrary.org/obo/UBERON_0002368	endocrine gland		
http://purl.obolibrary.org/obo/UBERON_0002046	thyroid gland	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002370	thymus	http://purl.obolibrary.org/obo/UBERON_0005058	hemolymphoid system gland		
http://purl.obolibrary.org/obo/UBERON_0002512	corpus luteum	http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0006858	adrenal/interrenal gland	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0006925	digestive system gland	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0010133	neuroendocrine gland	http://purl.obolibrary.org/obo/UBERON_0002368	endocrine gland		
http://purl.obolibrary.org/obo/UBERON_0009114	cervical thymus	http://purl.obolibrary.org/obo/UBERON_0002370	thymus		
http://purl.obolibrary.org/obo/UBERON_0009115	thoracic thymus	http://purl.obolibrary.org/obo/UBERON_0005178	thoracic cavity element		
http://purl.obolibrary.org/obo/UBERON_0001732	pharyngeal tonsil	http://purl.obolibrary.org/obo/UBERON_0012330	nasal-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0002373	palatine tonsil	http://purl.obolibrary.org/obo/UBERON_0002372	tonsil		
http://purl.obolibrary.org/obo/UBERON_0002242	nucleus pulposus	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002521	elastic tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003566	head connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003568	neck connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003570	respiratory system connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003576	hip connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003579	shoulder connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003584	mammary gland connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003585	dermis connective tissue	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003586	trunk connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003587	limb connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003593	thoracic cavity connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003599	tail connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004267	back connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004755	skeletal tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004857	skeletal muscle connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0007845	regular connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0011821	irregular connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0011823	dense connective tissue	http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue		
http://purl.obolibrary.org/obo/UBERON_0019231	manual digit 1 or 5	http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0019232	manual digit 2, 3 or 4	http://purl.obolibrary.org/obo/UBERON_0019222	digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0003704	intrahepatic bile duct	http://purl.obolibrary.org/obo/UBERON_0002394	bile duct		
http://purl.obolibrary.org/obo/UBERON_0003703	extrahepatic bile duct	http://purl.obolibrary.org/obo/UBERON_0002394	bile duct		
http://purl.obolibrary.org/obo/UBERON_0004913	hepatopancreatic ampulla	http://purl.obolibrary.org/obo/UBERON_0002394	bile duct		
http://purl.obolibrary.org/obo/UBERON_0005171	hepatic duct	http://purl.obolibrary.org/obo/UBERON_0002394	bile duct		
http://purl.obolibrary.org/obo/UBERON_0005604	extrahepatic part of hepatic duct	http://purl.obolibrary.org/obo/UBERON_0002394	bile duct		
http://purl.obolibrary.org/obo/UBERON_0004271	outflow tract pericardium	http://purl.obolibrary.org/obo/UBERON_0002407	pericardium		
http://purl.obolibrary.org/obo/UBERON_0000991	gonad	http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0003134	female reproductive organ	http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0003135	male reproductive organ	http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0004175	internal genitalia	http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0004176	external genitalia	http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0003975	internal female genitalia	http://purl.obolibrary.org/obo/UBERON_0004175	internal genitalia		
http://purl.obolibrary.org/obo/UBERON_0005056	external female genitalia	http://purl.obolibrary.org/obo/UBERON_0004176	external genitalia		
http://purl.obolibrary.org/obo/UBERON_0004053	external male genitalia	http://purl.obolibrary.org/obo/UBERON_0004176	external genitalia		
http://purl.obolibrary.org/obo/UBERON_0004054	internal male genitalia	http://purl.obolibrary.org/obo/UBERON_0004175	internal genitalia		
http://purl.obolibrary.org/obo/UBERON_0008811	intromittent organ	http://purl.obolibrary.org/obo/UBERON_0003135	male reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0001436	phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0015024	manual digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001449	phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0015030	pedal digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0004300	distal phalanx	http://purl.obolibrary.org/obo/UBERON_0003221	phalanx		
http://purl.obolibrary.org/obo/UBERON_0004301	middle phalanx	http://purl.obolibrary.org/obo/UBERON_0003221	phalanx		
http://purl.obolibrary.org/obo/UBERON_0004302	proximal phalanx	http://purl.obolibrary.org/obo/UBERON_0003221	phalanx		
http://purl.obolibrary.org/obo/UBERON_0001174	common bile duct	http://purl.obolibrary.org/obo/UBERON_0003703	extrahepatic bile duct		
http://purl.obolibrary.org/obo/UBERON_0001152	cystic duct	http://purl.obolibrary.org/obo/UBERON_0003703	extrahepatic bile duct		
http://purl.obolibrary.org/obo/UBERON_0001175	common hepatic duct	http://purl.obolibrary.org/obo/UBERON_0003703	extrahepatic bile duct		
http://purl.obolibrary.org/obo/UBERON_0001176	right hepatic duct	http://purl.obolibrary.org/obo/UBERON_0003703	extrahepatic bile duct		
http://purl.obolibrary.org/obo/UBERON_0001177	left hepatic duct	http://purl.obolibrary.org/obo/UBERON_0003703	extrahepatic bile duct		
http://purl.obolibrary.org/obo/UBERON_0010081	future common hepatic duct	http://purl.obolibrary.org/obo/UBERON_0034932	epithelium of biliary system		
http://purl.obolibrary.org/obo/UBERON_0001302	right fallopian tube	http://purl.obolibrary.org/obo/UBERON_0003889	fallopian tube		
http://purl.obolibrary.org/obo/UBERON_0001303	left fallopian tube	http://purl.obolibrary.org/obo/UBERON_0003889	fallopian tube		
http://purl.obolibrary.org/obo/UBERON_0007122	pharyngeal pouch 1	http://purl.obolibrary.org/obo/UBERON_0004117	pharyngeal pouch		
http://purl.obolibrary.org/obo/UBERON_0007123	pharyngeal pouch 2	http://purl.obolibrary.org/obo/UBERON_0004117	pharyngeal pouch		
http://purl.obolibrary.org/obo/UBERON_0007124	pharyngeal pouch 3	http://purl.obolibrary.org/obo/UBERON_0004117	pharyngeal pouch		
http://purl.obolibrary.org/obo/UBERON_0007125	pharyngeal pouch 4	http://purl.obolibrary.org/obo/UBERON_0004117	pharyngeal pouch		
http://purl.obolibrary.org/obo/UBERON_0007126	pharyngeal pouch 5	http://purl.obolibrary.org/obo/UBERON_0004117	pharyngeal pouch		
http://purl.obolibrary.org/obo/UBERON_0011695	embryonic cardiovascular system	http://purl.obolibrary.org/obo/UBERON_0004535	cardiovascular system		
http://purl.obolibrary.org/obo/UBERON_0000029	lymph node	http://purl.obolibrary.org/obo/UBERON_0005057	immune organ		
http://purl.obolibrary.org/obo/UBERON_0002106	spleen	http://purl.obolibrary.org/obo/UBERON_0017672	abdominal viscera		
http://purl.obolibrary.org/obo/UBERON_0010394	lymphocyte domain	http://purl.obolibrary.org/obo/UBERON_0010001	cell cluster organ		
http://purl.obolibrary.org/obo/UBERON_0001139	common iliac vein	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001316	external iliac vein	http://purl.obolibrary.org/obo/UBERON_0005610	iliac vein		
http://purl.obolibrary.org/obo/UBERON_0001317	internal iliac vein	http://purl.obolibrary.org/obo/UBERON_0005610	iliac vein		
http://purl.obolibrary.org/obo/UBERON_0001042	chordate pharynx	http://purl.obolibrary.org/obo/UBERON_0006562	pharynx		
http://purl.obolibrary.org/obo/UBERON_0000461	minor vestibular gland	http://purl.obolibrary.org/obo/UBERON_0010187	female urethral gland		
http://purl.obolibrary.org/obo/UBERON_0001332	prepuce of penis	http://purl.obolibrary.org/obo/UBERON_0011374	prepuce		
http://purl.obolibrary.org/obo/UBERON_0005299	prepuce of clitoris	http://purl.obolibrary.org/obo/UBERON_0011374	prepuce		
http://purl.obolibrary.org/obo/UBERON_0000460	major vestibular gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0001629	carotid body	http://purl.obolibrary.org/obo/UBERON_0034979	nonchromaffin paraganglion		
http://purl.obolibrary.org/obo/UBERON_0000411	visual cortex	http://purl.obolibrary.org/obo/UBERON_8440011	cortical visual area		
http://purl.obolibrary.org/obo/UBERON_8440011	cortical visual area	http://purl.obolibrary.org/obo/UBERON_0035014	functional part of brain		
http://purl.obolibrary.org/obo/UBERON_0005442	abdominal external oblique muscle	http://purl.obolibrary.org/obo/UBERON_0035032	abdominal oblique muscle		
http://purl.obolibrary.org/obo/UBERON_0005454	abdominal internal oblique muscle	http://purl.obolibrary.org/obo/UBERON_0035032	abdominal oblique muscle		
http://purl.obolibrary.org/obo/UBERON_0035078	parotid gland interlobular duct	http://purl.obolibrary.org/obo/UBERON_0035053	interlobular duct of salivary gland		
http://purl.obolibrary.org/obo/UBERON_0035131	auditory ossicle cartilage element	http://purl.obolibrary.org/obo/UBERON_0011004	pharyngeal arch cartilage		
http://purl.obolibrary.org/obo/UBERON_0035132	auditory ossicle pre-cartilage element	http://purl.obolibrary.org/obo/UBERON_0035130	auditory ossicle endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001686	auditory ossicle bone	http://purl.obolibrary.org/obo/UBERON_0003457	head bone		
http://purl.obolibrary.org/obo/UBERON_0001633	basilar artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0005431	anterior spinal artery	http://purl.obolibrary.org/obo/UBERON_0002458	spinal artery		
http://purl.obolibrary.org/obo/UBERON_0001610	lingual artery	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001612	facial artery	http://purl.obolibrary.org/obo/UBERON_0035398	branch of external carotid artery		
http://purl.obolibrary.org/obo/UBERON_0001613	occipital artery	http://purl.obolibrary.org/obo/UBERON_0035398	branch of external carotid artery		
http://purl.obolibrary.org/obo/UBERON_0001635	superior cerebellar artery	http://purl.obolibrary.org/obo/UBERON_0003472	cerebellar artery		
http://purl.obolibrary.org/obo/UBERON_0001636	posterior cerebral artery	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002019	accessory XI nerve	http://purl.obolibrary.org/obo/UBERON_0035642	laryngeal nerve		
http://purl.obolibrary.org/obo/UBERON_0003716	recurrent laryngeal nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0001299	glans penis	http://purl.obolibrary.org/obo/UBERON_0035651	glans		
http://purl.obolibrary.org/obo/UBERON_0006653	glans clitoris	http://purl.obolibrary.org/obo/UBERON_0008324	erectile tissue		
http://purl.obolibrary.org/obo/UBERON_0001324	common fibular nerve	http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve		
http://purl.obolibrary.org/obo/NCBITaxon_11146	Porcine respiratory coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_11149	Transmissible gastroenteritis virus		
http://purl.obolibrary.org/obo/NCBITaxon_9515	Sapajus apella	http://purl.obolibrary.org/obo/NCBITaxon_1532884	Sapajus		
http://purl.obolibrary.org/obo/NCBITaxon_110815	Xenoturbella	http://purl.obolibrary.org/obo/NCBITaxon_1547233	Xenoturbellidae		
http://purl.obolibrary.org/obo/NCBITaxon_52564	Oesophagostomum	http://purl.obolibrary.org/obo/NCBITaxon_27830	Strongylidae		
http://purl.obolibrary.org/obo/NCBITaxon_2509514	Tegacovirus	http://purl.obolibrary.org/obo/NCBITaxon_693996	Alphacoronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_11149	Transmissible gastroenteritis virus	http://purl.obolibrary.org/obo/NCBITaxon_693997	Alphacoronavirus 1		
http://purl.obolibrary.org/obo/NCBITaxon_12663	Feline coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_693997	Alphacoronavirus 1		
http://purl.obolibrary.org/obo/NCBITaxon_11152	Turkey coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_694014	Avian coronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_11155	Torovirus	http://purl.obolibrary.org/obo/NCBITaxon_694017	Torovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_325675	unclassified Arteriviridae	http://purl.obolibrary.org/obo/NCBITaxon_76803	Arteriviridae		
http://purl.obolibrary.org/obo/NCBITaxon_328804	Pteropus conspicillatus	http://purl.obolibrary.org/obo/NCBITaxon_9401	Pteropus		
http://purl.obolibrary.org/obo/NCBITaxon_967	Spirillum	http://purl.obolibrary.org/obo/NCBITaxon_119068	Spirillaceae		
http://purl.obolibrary.org/obo/NCBITaxon_142786	Norovirus	http://purl.obolibrary.org/obo/NCBITaxon_11974	Caliciviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11909	Human T-lymphotropic virus 2	http://purl.obolibrary.org/obo/NCBITaxon_194441	Primate T-lymphotropic virus 2		
http://purl.obolibrary.org/obo/NCBITaxon_27830	Strongylidae	http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea		
http://purl.obolibrary.org/obo/NCBITaxon_33264	Dictyocaulidae	http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea		
http://purl.obolibrary.org/obo/NCBITaxon_33278	Ancylostomatidae	http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea		
http://purl.obolibrary.org/obo/NCBITaxon_6315	Trichostrongylidae	http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea		
http://purl.obolibrary.org/obo/NCBITaxon_55271	Metastrongylidae	http://purl.obolibrary.org/obo/NCBITaxon_27829	Strongyloidea		
http://purl.obolibrary.org/obo/NCBITaxon_119068	Spirillaceae	http://purl.obolibrary.org/obo/NCBITaxon_32003	Nitrosomonadales		
http://purl.obolibrary.org/obo/NCBITaxon_3048279	Circovirus porcine2	http://purl.obolibrary.org/obo/NCBITaxon_39725	Circovirus		
http://purl.obolibrary.org/obo/NCBITaxon_119095	Capillaria	http://purl.obolibrary.org/obo/NCBITaxon_455381	Capillariidae		
http://purl.obolibrary.org/obo/NCBITaxon_54133	Pygathrix nemaeus	http://purl.obolibrary.org/obo/NCBITaxon_54132	Pygathrix		
http://purl.obolibrary.org/obo/NCBITaxon_6248	Strongyloides stercoralis	http://purl.obolibrary.org/obo/NCBITaxon_6247	Strongyloides		
http://purl.obolibrary.org/obo/NCBITaxon_1535325	Candida/Lodderomyces clade	http://purl.obolibrary.org/obo/NCBITaxon_766764	Debaryomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_816	Bacteroides	http://purl.obolibrary.org/obo/NCBITaxon_815	Bacteroidaceae		
http://purl.obolibrary.org/obo/NCBITaxon_8139	Oreochromis	http://purl.obolibrary.org/obo/NCBITaxon_1315725	Oreochromini		
http://purl.obolibrary.org/obo/NCBITaxon_13180	Nymphicus hollandicus	http://purl.obolibrary.org/obo/NCBITaxon_13179	Nymphicus		
http://purl.obolibrary.org/obo/NCBITaxon_1315725	Oreochromini	http://purl.obolibrary.org/obo/NCBITaxon_318546	Pseudocrenilabrinae		
http://purl.obolibrary.org/obo/NCBITaxon_32535	Acinonyx	http://purl.obolibrary.org/obo/NCBITaxon_338152	Felinae		
http://purl.obolibrary.org/obo/NCBITaxon_9682	Felis	http://purl.obolibrary.org/obo/NCBITaxon_338152	Felinae		
http://purl.obolibrary.org/obo/NCBITaxon_146712	Puma	http://purl.obolibrary.org/obo/NCBITaxon_338152	Felinae		
http://purl.obolibrary.org/obo/NCBITaxon_55194	Malassezia furfur	http://purl.obolibrary.org/obo/NCBITaxon_55193	Malassezia		
http://purl.obolibrary.org/obo/NCBITaxon_6247	Strongyloides	http://purl.obolibrary.org/obo/NCBITaxon_6246	Strongyloididae		
http://purl.obolibrary.org/obo/NCBITaxon_2038102	Balantioides	http://purl.obolibrary.org/obo/NCBITaxon_71583	Balantidiidae		
http://purl.obolibrary.org/obo/NCBITaxon_6259	Baylisascaris procyonis	http://purl.obolibrary.org/obo/NCBITaxon_6258	Baylisascaris		
http://purl.obolibrary.org/obo/NCBITaxon_162474	Malasseziales	http://purl.obolibrary.org/obo/NCBITaxon_1538075	Malasseziomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_176043	Nestor meridionalis	http://purl.obolibrary.org/obo/NCBITaxon_176042	Nestor		
http://purl.obolibrary.org/obo/NCBITaxon_1776223	Gorgoderoidea	http://purl.obolibrary.org/obo/NCBITaxon_27872	Xiphidiata		
http://purl.obolibrary.org/obo/NCBITaxon_9224	Psittacidae	http://purl.obolibrary.org/obo/NCBITaxon_9223	Psittaciformes		
http://purl.obolibrary.org/obo/NCBITaxon_35549	Cacatuidae	http://purl.obolibrary.org/obo/NCBITaxon_9223	Psittaciformes		
http://purl.obolibrary.org/obo/NCBITaxon_848	Fusobacterium	http://purl.obolibrary.org/obo/NCBITaxon_203492	Fusobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2092	Mycoplasmataceae	http://purl.obolibrary.org/obo/NCBITaxon_2085	Mycoplasmatales		
http://purl.obolibrary.org/obo/NCBITaxon_2093	Mycoplasma	http://purl.obolibrary.org/obo/NCBITaxon_2092	Mycoplasmataceae		
http://purl.obolibrary.org/obo/NCBITaxon_8294	Ambystomatidae	http://purl.obolibrary.org/obo/NCBITaxon_30367	Salamandroidea		
http://purl.obolibrary.org/obo/NCBITaxon_204428	Chlamydiota	http://purl.obolibrary.org/obo/NCBITaxon_1783257	PVC group		
http://purl.obolibrary.org/obo/NCBITaxon_37989	Xylariales	http://purl.obolibrary.org/obo/NCBITaxon_222545	Xylariomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_83158	Sarcoptoidea	http://purl.obolibrary.org/obo/NCBITaxon_223472	Psoroptidia		
http://purl.obolibrary.org/obo/NCBITaxon_39725	Circovirus	http://purl.obolibrary.org/obo/NCBITaxon_39724	Circoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_9806	Ceratotherium	http://purl.obolibrary.org/obo/NCBITaxon_9803	Rhinocerotidae		
http://purl.obolibrary.org/obo/NCBITaxon_318478	Dracunculus <nematodes>	http://purl.obolibrary.org/obo/NCBITaxon_318477	Dracunculidae		
http://purl.obolibrary.org/obo/NCBITaxon_318479	Dracunculus medinensis	http://purl.obolibrary.org/obo/NCBITaxon_318478	Dracunculus <nematodes>		
http://purl.obolibrary.org/obo/NCBITaxon_318546	Pseudocrenilabrinae	http://purl.obolibrary.org/obo/NCBITaxon_319095	African cichlids		
http://purl.obolibrary.org/obo/NCBITaxon_7899	Acipenseriformes	http://purl.obolibrary.org/obo/NCBITaxon_32440	Chondrostei		
http://purl.obolibrary.org/obo/NCBITaxon_32536	Acinonyx jubatus	http://purl.obolibrary.org/obo/NCBITaxon_32535	Acinonyx		
http://purl.obolibrary.org/obo/NCBITaxon_6264	Toxocara	http://purl.obolibrary.org/obo/NCBITaxon_33259	Toxocaridae		
http://purl.obolibrary.org/obo/NCBITaxon_33345	Heteroptera	http://purl.obolibrary.org/obo/NCBITaxon_33343	Prosorrhyncha		
http://purl.obolibrary.org/obo/NCBITaxon_33349	Neoheteroptera	http://purl.obolibrary.org/obo/NCBITaxon_33347	Euheteroptera		
http://purl.obolibrary.org/obo/NCBITaxon_33351	Panheteroptera	http://purl.obolibrary.org/obo/NCBITaxon_33349	Neoheteroptera		
http://purl.obolibrary.org/obo/NCBITaxon_33354	Cimicomorpha	http://purl.obolibrary.org/obo/NCBITaxon_33351	Panheteroptera		
http://purl.obolibrary.org/obo/NCBITaxon_33356	Reduvioidea	http://purl.obolibrary.org/obo/NCBITaxon_33354	Cimicomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_318477	Dracunculidae	http://purl.obolibrary.org/obo/NCBITaxon_55872	Dracunculoidea		
http://purl.obolibrary.org/obo/NCBITaxon_9685	Felis catus	http://purl.obolibrary.org/obo/NCBITaxon_9682	Felis		
http://purl.obolibrary.org/obo/NCBITaxon_61379	Felis nigripes	http://purl.obolibrary.org/obo/NCBITaxon_9682	Felis		
http://purl.obolibrary.org/obo/NCBITaxon_2547934	Blastocystidae	http://purl.obolibrary.org/obo/NCBITaxon_42740	Opalinata		
http://purl.obolibrary.org/obo/NCBITaxon_9704	Zalophus californianus	http://purl.obolibrary.org/obo/NCBITaxon_9703	Zalophus		
http://purl.obolibrary.org/obo/NCBITaxon_513042	Dioctophyme	http://purl.obolibrary.org/obo/NCBITaxon_513040	Dioctophymatidae		
http://purl.obolibrary.org/obo/NCBITaxon_513045	Dioctophyme renale	http://purl.obolibrary.org/obo/NCBITaxon_513042	Dioctophyme		
http://purl.obolibrary.org/obo/NCIT_C36869	Spindle Melanocyte	http://purl.obolibrary.org/obo/NCIT_C36823	Neoplastic Spindle Cell		
http://purl.obolibrary.org/obo/MONDO_0024527	glomerulopathy with fibronectin deposits 1	http://purl.obolibrary.org/obo/MONDO_0007671	fibronectin glomerulopathy		
http://purl.obolibrary.org/obo/MONDO_0017426	postaxial polydactyly of fingers	http://purl.obolibrary.org/obo/MONDO_0011348	non-syndromic polydactyly		
http://purl.obolibrary.org/obo/MONDO_0017456	central polydactyly of fingers	http://purl.obolibrary.org/obo/MONDO_0011348	non-syndromic polydactyly		
http://purl.obolibrary.org/obo/MONDO_0017457	Preaxial polydactyly of toes	http://purl.obolibrary.org/obo/MONDO_0011348	non-syndromic polydactyly		
http://purl.obolibrary.org/obo/MONDO_0020927	postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0011348	non-syndromic polydactyly		
http://purl.obolibrary.org/obo/MONDO_0020083	immunodeficiency-associated lymphoproliferative disease	http://purl.obolibrary.org/obo/MONDO_0015757	lymphoid hemopathy		
http://purl.obolibrary.org/obo/MONDO_0958095	Nodal T-follicular helper cell lymphoma, follicular type	http://purl.obolibrary.org/obo/MONDO_0015760	T-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0958096	monomorphic epitheliotropic intestinal T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015760	T-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0015758	primary cutaneous T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018898	primary cutaneous lymphoma		
http://purl.obolibrary.org/obo/MONDO_0017585	painful orbital and systemic neurofibromas-marfanoid habitus syndrome	http://purl.obolibrary.org/obo/MONDO_0016752	benign peripheral nerve sheath tumor		
http://purl.obolibrary.org/obo/MONDO_0018621	lymphoplasmacytic lymphoma without IgM production	http://purl.obolibrary.org/obo/MONDO_0017594	indolent B-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0030517	trichothiodystrophy 8, nonphotosensitive	http://purl.obolibrary.org/obo/MONDO_1010132	AARS1-related leukoencephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030518	trichothiodystrophy 9, nonphotosensitive	http://purl.obolibrary.org/obo/MONDO_0018053	trichothiodystrophy		
http://purl.obolibrary.org/obo/MONDO_0032806	trichothiodystrophy 7, nonphotosensitive	http://purl.obolibrary.org/obo/MONDO_0018053	trichothiodystrophy		
http://purl.obolibrary.org/obo/MONDO_0011508	lymphoma, non-Hodgkin, familial	http://purl.obolibrary.org/obo/MONDO_0018908	non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0015102	non-secreting chemodectoma	http://purl.obolibrary.org/obo/MONDO_0019788	non-secreting paraganglioma		
http://purl.obolibrary.org/obo/MONDO_0017101	isolated focal cortical dysplasia type IIa	http://purl.obolibrary.org/obo/MONDO_0011818	isolated focal cortical dysplasia type II		
http://purl.obolibrary.org/obo/MONDO_0017102	isolated focal cortical dysplasia type IIb	http://purl.obolibrary.org/obo/MONDO_0011818	isolated focal cortical dysplasia type II		
http://purl.obolibrary.org/obo/MONDO_0035410	isolated congenital aglossia	http://purl.obolibrary.org/obo/MONDO_0013003	isolated congenital hypoglossia/aglossia		
http://purl.obolibrary.org/obo/MONDO_0035411	isolated congenital hypoglossia	http://purl.obolibrary.org/obo/MONDO_0013003	isolated congenital hypoglossia/aglossia		
http://purl.obolibrary.org/obo/MONDO_0800196	achromatopsia 5	http://purl.obolibrary.org/obo/MONDO_0013129	cone dystrophy 4		
http://purl.obolibrary.org/obo/MONDO_0013230	epilepsy, hot water, 2	http://purl.obolibrary.org/obo/MONDO_0013229	hot water reflex epilepsy		
http://purl.obolibrary.org/obo/MONDO_0024508	epilepsy, hot water, 1	http://purl.obolibrary.org/obo/MONDO_0013229	hot water reflex epilepsy		
http://purl.obolibrary.org/obo/MONDO_0957254	mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	http://purl.obolibrary.org/obo/MONDO_0014471	mitochondrial proton-transporting ATP synthase complex deficiency		
http://purl.obolibrary.org/obo/MONDO_0957255	mitochondrial complex V (ATP synthase) deficiency, nuclear type 7	http://purl.obolibrary.org/obo/MONDO_0014471	mitochondrial proton-transporting ATP synthase complex deficiency		
http://purl.obolibrary.org/obo/MONDO_0020727	combined oxidative phosphorylation deficiency 22	http://purl.obolibrary.org/obo/MONDO_0014471	mitochondrial proton-transporting ATP synthase complex deficiency		
http://purl.obolibrary.org/obo/MONDO_0027069	mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1	http://purl.obolibrary.org/obo/MONDO_0014471	mitochondrial proton-transporting ATP synthase complex deficiency		
http://purl.obolibrary.org/obo/MONDO_0032869	mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6	http://purl.obolibrary.org/obo/MONDO_0014471	mitochondrial proton-transporting ATP synthase complex deficiency		
http://purl.obolibrary.org/obo/MONDO_0971150	neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0030055	neuronopathy, distal hereditary motor, autosomal recessive 8	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0030977	neuronopathy, distal hereditary motor, autosomal recessive 7	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0859279	spinal muscular atrophy, distal, autosomal recessive, 6	http://purl.obolibrary.org/obo/MONDO_0015363	neuronopathy, distal hereditary motor, autosomal recessive		
http://purl.obolibrary.org/obo/MONDO_0030827	macrothrombocytopenia, isolated, 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0031447	macrothrombocytopenia, isolated		
http://purl.obolibrary.org/obo/MONDO_0017463	congenital pseudoarthrosis of the femur	http://purl.obolibrary.org/obo/MONDO_0015525	congenital pseudoarthrosis of the limbs		
http://purl.obolibrary.org/obo/MONDO_0017464	congenital pseudoarthrosis of the fibula	http://purl.obolibrary.org/obo/MONDO_0015525	congenital pseudoarthrosis of the limbs		
http://purl.obolibrary.org/obo/MONDO_0017465	congenital pseudoarthrosis of the radius	http://purl.obolibrary.org/obo/MONDO_0015525	congenital pseudoarthrosis of the limbs		
http://purl.obolibrary.org/obo/MONDO_0017466	congenital pseudoarthrosis of the ulna	http://purl.obolibrary.org/obo/MONDO_0015525	congenital pseudoarthrosis of the limbs		
http://purl.obolibrary.org/obo/MONDO_0035121	myeloid/lymphoid neoplasm associated with JAK2 rearrangement	http://purl.obolibrary.org/obo/MONDO_0015688	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2		
http://purl.obolibrary.org/obo/MONDO_0971133	isolated segmental infantile hemangioma	http://purl.obolibrary.org/obo/MONDO_0016223	infantile hemangioma of rare localization		
http://purl.obolibrary.org/obo/MONDO_0015517	common variable immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0016463	syndromic agammaglobulinemia		
http://purl.obolibrary.org/obo/MONDO_0011975	paternal uniparental disomy of chromosome 14	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0016781	maternal 14q32.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016779	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect		
http://purl.obolibrary.org/obo/MONDO_0016783	maternal 14q32.2 hypermethylation syndrome	http://purl.obolibrary.org/obo/MONDO_0016779	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect		
http://purl.obolibrary.org/obo/MONDO_0013309	chromosome 2p12-p11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016884	partial deletion of the short arm of chromosome 2		
http://purl.obolibrary.org/obo/MONDO_0018156	3q26q27 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016902	partial deletion of the long arm of chromosome 3		
http://purl.obolibrary.org/obo/MONDO_0013299	chromosome 6q11-q14 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016905	partial deletion of the long arm of chromosome 6		
http://purl.obolibrary.org/obo/MONDO_0971095	6q25.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016460	polyvalvular heart disease syndrome		
http://purl.obolibrary.org/obo/MONDO_0016780	paternal 14q32.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0014541	motor developmental delay due to 14q32.2 paternally expressed gene defect		
http://purl.obolibrary.org/obo/MONDO_0014235	chromosome 22q13 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0016972	partial duplication of the long arm of chromosome 22		
http://purl.obolibrary.org/obo/MONDO_0017019	interstitial lung disease specific to infancy	http://purl.obolibrary.org/obo/MONDO_0017015	primary interstitial lung disease specific to childhood		
http://purl.obolibrary.org/obo/MONDO_0012986	bilateral parasagittal parieto-occipital polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0020340	bilateral perisylvian polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0017091	bilateral polymicrogyria		
http://purl.obolibrary.org/obo/MONDO_0010755	vesicoureteral reflux, X-linked	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		
http://purl.obolibrary.org/obo/MONDO_0013682	vesicoureteral reflux 4	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		
http://purl.obolibrary.org/obo/MONDO_0013683	vesicoureteral reflux 5	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		
http://purl.obolibrary.org/obo/MONDO_0013684	vesicoureteral reflux 6	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		
http://purl.obolibrary.org/obo/MONDO_0014161	vesicoureteral reflux 7	http://purl.obolibrary.org/obo/MONDO_0017329	familial vesicoureteral reflux		
http://purl.obolibrary.org/obo/MONDO_0033282	multiple mitochondrial dysfunctions syndrome 5	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		
http://purl.obolibrary.org/obo/MONDO_0054785	multiple mitochondrial dysfunctions syndrome 6	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		
http://purl.obolibrary.org/obo/MONDO_0975806	multiple mitochondrial dysfunctions syndrome 10	http://purl.obolibrary.org/obo/MONDO_0017338	fatal multiple mitochondrial dysfunctions syndrome		
http://purl.obolibrary.org/obo/MONDO_0012393	congenital brain dysgenesis due to glutamine synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0017352	disorder of glutamine metabolism		
http://purl.obolibrary.org/obo/MONDO_0011407	facial paresis, hereditary congenital, 2	http://purl.obolibrary.org/obo/MONDO_0017627	congenital hereditary facial paralysis-variable hearing loss syndrome		
http://purl.obolibrary.org/obo/MONDO_0013208	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		
http://purl.obolibrary.org/obo/MONDO_0013480	renal hypomagnesemia 6	http://purl.obolibrary.org/obo/MONDO_0018101	familial primary hypomagnesemia with normocalciuria and normocalcemia		
http://purl.obolibrary.org/obo/MONDO_0014631	hypomagnesemia, seizures, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0018101	familial primary hypomagnesemia with normocalciuria and normocalcemia		
http://purl.obolibrary.org/obo/MONDO_0018491	3-phosphoglycerate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0018162	neurometabolic disorder due to serine deficiency		
http://purl.obolibrary.org/obo/MONDO_0035004	serine biosynthesis pathway deficiency, infantile/juvenile form	http://purl.obolibrary.org/obo/MONDO_0018162	neurometabolic disorder due to serine deficiency		
http://purl.obolibrary.org/obo/MONDO_0014725	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0018162	neurometabolic disorder due to serine deficiency		
http://purl.obolibrary.org/obo/MONDO_0018380	idiopathic avascular necrosis	http://purl.obolibrary.org/obo/MONDO_0700007	idiopathic disease		
http://purl.obolibrary.org/obo/MONDO_0011754	familial hyperreninemic hypoaldosteronism type 2	http://purl.obolibrary.org/obo/MONDO_0018541	familial hypoaldosteronism		
http://purl.obolibrary.org/obo/MONDO_0017095	isolated focal cortical dysplasia type I	http://purl.obolibrary.org/obo/MONDO_0019009	isolated focal cortical dysplasia		
http://purl.obolibrary.org/obo/MONDO_0011818	isolated focal cortical dysplasia type II	http://purl.obolibrary.org/obo/MONDO_0019009	isolated focal cortical dysplasia		
http://purl.obolibrary.org/obo/MONDO_0013791	thrombophilia due to protein S deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019144	hereditary thrombophilia due to congenital protein S deficiency		
http://purl.obolibrary.org/obo/MONDO_0014969	isolated sedoheptulokinase deficiency	http://purl.obolibrary.org/obo/MONDO_0019231	inborn disorder of pentose phosphate metabolism		
http://purl.obolibrary.org/obo/MONDO_0019655	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	http://purl.obolibrary.org/obo/MONDO_0019401	sporadic idiopathic steroid-resistant nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0019656	sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	http://purl.obolibrary.org/obo/MONDO_0019401	sporadic idiopathic steroid-resistant nephrotic syndrome		
http://purl.obolibrary.org/obo/MONDO_0017937	autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0957273	Charcot-Marie-Tooth disease, dominant intermediate A	http://purl.obolibrary.org/obo/MONDO_0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease		
http://purl.obolibrary.org/obo/MONDO_0015642	benign partial infantile seizures	http://purl.obolibrary.org/obo/MONDO_0020071	infantile epilepsy syndrome		
http://purl.obolibrary.org/obo/HP_0030718	Right atrial enlargement	http://purl.obolibrary.org/obo/HP_0025580	Abnormal right atrium morphology		
http://purl.obolibrary.org/obo/HP_0031652	Abnormal aortic valve physiology	http://purl.obolibrary.org/obo/HP_0031653	Abnormal heart valve physiology		
http://purl.obolibrary.org/obo/HP_0031694	Severe adenovirus infection	http://purl.obolibrary.org/obo/HP_0031691	Severe viral infection		
http://purl.obolibrary.org/obo/GO_0042482	positive regulation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042481	regulation of odontogenesis		
http://purl.obolibrary.org/obo/GO_0042483	negative regulation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042481	regulation of odontogenesis		
http://purl.obolibrary.org/obo/HP_0006824	Cranial nerve paralysis	http://purl.obolibrary.org/obo/HP_0031910	Abnormal cranial nerve physiology		
http://purl.obolibrary.org/obo/HP_0010827	Abnormal seventh cranial physiology	http://purl.obolibrary.org/obo/HP_0031910	Abnormal cranial nerve physiology		
http://purl.obolibrary.org/obo/HP_0030242	Portal vein thrombosis	http://purl.obolibrary.org/obo/HP_0030247	Splanchnic vein thrombosis		
http://purl.obolibrary.org/obo/MONDO_0022755	chromosome 18 mosaic monosomy	http://purl.obolibrary.org/obo/MONDO_0700125	chromosome 18 disorder		
http://purl.obolibrary.org/obo/MONDO_0021183	HTLV-2 infection	http://purl.obolibrary.org/obo/MONDO_0021184	deltaretrovirus infections		
http://purl.obolibrary.org/obo/MONDO_0035737	acquired factor V deficiency	http://purl.obolibrary.org/obo/MONDO_0020599	acquired coagulation factor deficiency		
http://purl.obolibrary.org/obo/MONDO_0020652	immature teratoma of vulva	http://purl.obolibrary.org/obo/MONDO_0024746	immature teratoma		
http://purl.obolibrary.org/obo/FOODON_03311737	processed food	http://purl.obolibrary.org/obo/FOODON_00002645	food material by process		
http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales	http://purl.obolibrary.org/obo/NCBITaxon_2497574	Monjiviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2499411	Articulavirales		
http://purl.obolibrary.org/obo/NCBITaxon_11229	Morbillivirus	http://purl.obolibrary.org/obo/NCBITaxon_2560076	Orthoparamyxovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_260964	Henipavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560076	Orthoparamyxovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_439488	ssRNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_2585030	unclassified Riboviria		
http://purl.obolibrary.org/obo/NCBITaxon_439490	unclassified ssRNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_2585030	unclassified Riboviria		
http://purl.obolibrary.org/obo/NCBITaxon_5765	Vahlkampfiidae	http://purl.obolibrary.org/obo/NCBITaxon_2601530	Eutetramitia		
http://purl.obolibrary.org/obo/NCBITaxon_3433633	Betacoronavirus cameli	http://purl.obolibrary.org/obo/NCBITaxon_2509494	Merbecovirus		
http://purl.obolibrary.org/obo/NCBITaxon_555406	Archamoebae	http://purl.obolibrary.org/obo/NCBITaxon_2605435	Evosea		
http://purl.obolibrary.org/obo/NCBITaxon_2497570	Haploviricotina	http://purl.obolibrary.org/obo/NCBITaxon_2497569	Negarnaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2497571	Polyploviricotina	http://purl.obolibrary.org/obo/NCBITaxon_2497569	Negarnaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2497574	Monjiviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2497570	Haploviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_2497577	Insthoviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2497571	Polyploviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_3151693	Bunyaviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2497571	Polyploviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_2499411	Articulavirales	http://purl.obolibrary.org/obo/NCBITaxon_2497577	Insthoviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_76803	Arteriviridae	http://purl.obolibrary.org/obo/NCBITaxon_2499398	Arnidovirineae		
http://purl.obolibrary.org/obo/NCBITaxon_2508209	Tobaniviridae	http://purl.obolibrary.org/obo/NCBITaxon_2499403	Tornidovirineae		
http://purl.obolibrary.org/obo/NCBITaxon_2499674	Betaarterivirus	http://purl.obolibrary.org/obo/NCBITaxon_2499607	Variarterivirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2499683	Ampobartevirus	http://purl.obolibrary.org/obo/NCBITaxon_2499674	Betaarterivirus		
http://purl.obolibrary.org/obo/NCBITaxon_2499685	Betaarterivirus americense	http://purl.obolibrary.org/obo/NCBITaxon_2499683	Ampobartevirus		
http://purl.obolibrary.org/obo/NCBITaxon_694017	Torovirinae	http://purl.obolibrary.org/obo/NCBITaxon_2508209	Tobaniviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3433766	Gammacoronavirus galli	http://purl.obolibrary.org/obo/NCBITaxon_2509487	Igacovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3418604	Betacoronavirus pandemicum	http://purl.obolibrary.org/obo/NCBITaxon_2509511	Sarbecovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3433814	Alphacoronavirus suis	http://purl.obolibrary.org/obo/NCBITaxon_2509514	Tegacovirus		
http://purl.obolibrary.org/obo/NCBITaxon_2601530	Eutetramitia	http://purl.obolibrary.org/obo/NCBITaxon_2601529	Tetramitia		
http://purl.obolibrary.org/obo/HP_0011858	Reduced factor IX activity	http://purl.obolibrary.org/obo/HP_0033062	Abnormal factor IX activity		
http://purl.obolibrary.org/obo/HP_0012086	Abnormal urinary color	http://purl.obolibrary.org/obo/HP_0033072	Abnormal macroscopic urine appearance		
http://purl.obolibrary.org/obo/HP_0005990	Thyroid hypoplasia	http://purl.obolibrary.org/obo/HP_0033079	Aplasia/Hypoplasia of the thyroid gland		
http://purl.obolibrary.org/obo/HP_0008191	Thyroid agenesis	http://purl.obolibrary.org/obo/HP_0033079	Aplasia/Hypoplasia of the thyroid gland		
http://purl.obolibrary.org/obo/HP_0002617	Vascular dilatation	http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology		
http://purl.obolibrary.org/obo/HP_0002624	Abnormal venous morphology	http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology		
http://purl.obolibrary.org/obo/HP_0004934	Vascular calcification	http://purl.obolibrary.org/obo/HP_0011915	Cardiovascular calcification		
http://purl.obolibrary.org/obo/HP_0011004	Abnormal systemic arterial morphology	http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology		
http://purl.obolibrary.org/obo/HP_0002633	Vasculitis	http://purl.obolibrary.org/obo/HP_0033353	Abnormal blood vessel morphology		
http://purl.obolibrary.org/obo/HP_0002919	Ketonuria	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		
http://purl.obolibrary.org/obo/HP_0003541	Urinary glycosaminoglycan excretion	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		
http://purl.obolibrary.org/obo/HP_0003641	Hemoglobinuria	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		
http://purl.obolibrary.org/obo/HP_0012612	Abnormal urinary sulfate concentration	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		
http://purl.obolibrary.org/obo/HP_0010473	Porphyrinuria	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		
http://purl.obolibrary.org/obo/HP_0025745	Abnormal urine amino acid level	http://purl.obolibrary.org/obo/HP_0033354	Abnormal urine metabolite level		
http://purl.obolibrary.org/obo/MONDO_0035375	multisystem inflammatory syndrome in children and adults	http://purl.obolibrary.org/obo/MONDO_0100320	post-COVID-19 disorder		
http://purl.obolibrary.org/obo/MONDO_0030862	COACH syndrome 3	http://purl.obolibrary.org/obo/MONDO_0100349	COACH syndrome		
http://purl.obolibrary.org/obo/MONDO_0015353	neuronopathy, distal hereditary motor, type 5A	http://purl.obolibrary.org/obo/MONDO_0100350	neuronopathy, distal hereditary motor, type 5		
http://purl.obolibrary.org/obo/MONDO_0957218	neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0957386	neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0957531	neurodevelopmental disorder with microcephaly and movement abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0957541	neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0975705	otofacial neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0975745	neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0958071	Hao-Fountain syndrome due to USP7 mutation	http://purl.obolibrary.org/obo/MONDO_0014805	Hao-Fountain syndrome		
http://purl.obolibrary.org/obo/MONDO_0958240	neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0958278	neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0958323	neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0958329	Jeffries-Lakhani neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0968945	neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0968947	neurodevelopmental disorder plus optic atrophy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0970951	El Hayek-Chahrour neurodevelopmental disorder	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980699	neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980700	neurodevelopmental disorder with speech delay and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980704	neurocardiorenal malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980706	neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980709	neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980710	neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980940	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980941	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980947	neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980965	neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0980968	neurodevelopmental disorder with seizures, hypotonia, and variable spasticity	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030024	neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030025	neurodevelopmental disorder with hypotonia, microcephaly, and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030046	neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030060	neurodevelopmental disorder with language impairment and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100038	complex neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030063	neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976263	neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976264	neurodevelopmental disorder with white matter abnormalities and gait disturbance	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976265	neurodevelopmental disorder with poor growth, seizures, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0033562	neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0033630	neurodevelopmental disorder with speech impairment and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0033642	neurodevelopmental disorder with alopecia and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0800159	disorder of polyamine metabolism		
http://purl.obolibrary.org/obo/MONDO_0033658	neurodevelopmental disorder with seizures and brain atrophy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0033662	neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0056797	neurodevelopmental disorder with midbrain and hindbrain malformations	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0968976	neurodevelopmental disorder with progressive movement abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0968979	neurodevelopmental disorder with hypotonia and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976285	neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030852	neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030866	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030930	neurodevelopmental disorder with or without early-onset generalized epilepsy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030994	neurodevelopmental disorder with or without autism or seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0030999	neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0031011	neurodevelopmental disorder with dysmorphic facies and variable seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976125	neurodevelopmental disorder with speech or visual impairment and brain hypomyelination	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976126	neurodevelopmental disorder with microcephaly, absent speech, and hypotonia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976131	neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976233	neurodevelopmental disorder with progressive spasticity and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0978300	neurodevelopmental disorder with ataxia and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0978301	neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0979245	neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0979246	Nil-Deshwar neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0979865	Popov-Chang syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0979875	neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032566	squalene synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032661	neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032698	neurodevelopmental disorder with central and peripheral motor dysfunction	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032741	neurodevelopmental disorder with impaired speech and hyperkinetic movements	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032755	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032775	neurodevelopmental disorder with seizures and speech and walking impairment	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032779	neurodevelopmental disorder with microcephaly and structural brain anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032784	neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032790	neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032807	neurodevelopmental disorder with visual defects and brain anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032816	neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032817	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032818	neurodevelopmental disorder with cerebellar hypoplasia and spasticity	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032820	neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032838	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032849	neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032855	neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032876	neurodevelopmental disorder with absent language and variable seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032877	neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032878	neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032887	neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032888	neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032889	Poirier-Bienvenu neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032894	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032900	neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032921	neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032942	neurodevelopmental disorder with microcephaly and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0032943	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0014700	Au-Kline syndrome	http://purl.obolibrary.org/obo/MONDO_0018681	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0014811	cerebellar atrophy, visual impairment, and psychomotor retardation;	http://purl.obolibrary.org/obo/MONDO_0100516	complex neurodevelopmental disorder with motor features		
http://purl.obolibrary.org/obo/MONDO_0014857	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0014893	Okur-Chung neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0014995	neurodevelopmental disorder with hypotonia, seizures, and absent language	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859085	neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859136	Alzahrani-Kuwahara syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859137	neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859141	neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859142	Hiatt-Neu-Cooper neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859148	neurodevelopmental disorder with seizures and gingival overgrowth	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859162	neurodevelopmental disorder with infantile epileptic spasms	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859165	neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859176	neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859179	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859185	neurodevelopmental disorder with hypotonia and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859187	neurodevelopmental disorder with hypotonia and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859201	neurodevelopmental disorder with impaired language and ataxia and with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859206	neurodevelopmental disorder with hearing loss and spasticity	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859207	neurodevelopmental disorder with hypotonia and gross motor and speech delay	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859211	neurodevelopmental disorder with hyperkinetic movements and dyskinesia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859212	neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859214	Marbach-Schaaf neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859216	neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859217	Brunet-Wagner neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859220	Ferguson-Bonni neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859225	neurodevelopmental disorder with or without variable movement or behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859232	neurodevelopmental disorder with central hypotonia and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859236	neurodevelopmental disorder with neuromuscular and skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859239	Chilton-Okur-Chung neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859243	neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859249	parenti-mignot neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859250	neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859251	Dentici-Novelli neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859252	neurodevelopmental disorder with poor growth and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859256	neurodevelopmental disorder with language delay and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859258	neurodevelopmental disorder with dystonia and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859260	Dworschak-Punetha neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859265	neurodevelopmental disorder with epilepsy and brain atrophy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859266	neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859272	neurodevelopmental disorder with speech delay and variable ocular anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859274	neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859275	neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859282	neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859283	neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859285	neurodevelopmental disorder with microcephaly, short stature, and speech delay	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859293	neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859297	neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859298	neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859301	neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859305	neurodevelopmental disorder with eye movement abnormalities and ataxia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859312	neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859313	neurodevelopmental disorder with speech impairment and with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859347	neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859350	neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859361	neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859365	neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859377	neurodevelopmental disorder with poor growth and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859516	neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859519	neurodevelopmental disorder with absent speech and movement and behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859531	neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0100500	Mendelian neurodevelopmental disorder		
http://purl.obolibrary.org/obo/HP_0000006	Autosomal dominant inheritance	http://purl.obolibrary.org/obo/HP_0034345	Mendelian inheritance		
http://purl.obolibrary.org/obo/HP_0000007	Autosomal recessive inheritance	http://purl.obolibrary.org/obo/HP_0034345	Mendelian inheritance		
http://purl.obolibrary.org/obo/HP_0001417	X-linked inheritance	http://purl.obolibrary.org/obo/HP_0034345	Mendelian inheritance		
http://purl.obolibrary.org/obo/HP_0001427	Mitochondrial inheritance	http://purl.obolibrary.org/obo/HP_0034345	Mendelian inheritance		
http://purl.obolibrary.org/obo/HP_0001450	Y-linked inheritance	http://purl.obolibrary.org/obo/HP_0034345	Mendelian inheritance		
http://purl.obolibrary.org/obo/HP_0002061	Lower limb spasticity	http://purl.obolibrary.org/obo/HP_0034353	Appendicular spasticity		
http://purl.obolibrary.org/obo/HP_0006986	Upper limb spasticity	http://purl.obolibrary.org/obo/HP_0034353	Appendicular spasticity		
http://purl.obolibrary.org/obo/HP_0001653	Mitral regurgitation	http://purl.obolibrary.org/obo/HP_0031481	Abnormal mitral valve physiology		
http://purl.obolibrary.org/obo/HP_0005180	Tricuspid regurgitation	http://purl.obolibrary.org/obo/HP_0031651	Abnormal tricuspid valve physiology		
http://purl.obolibrary.org/obo/HP_0001371	Flexion contracture	http://purl.obolibrary.org/obo/HP_0034392	Joint contracture		
http://purl.obolibrary.org/obo/HP_0003121	Limb joint contracture	http://purl.obolibrary.org/obo/HP_0034392	Joint contracture		
http://purl.obolibrary.org/obo/HP_0005242	Extrahepatic biliary duct atresia	http://purl.obolibrary.org/obo/HP_0005912	Biliary atresia		
http://purl.obolibrary.org/obo/NCBITaxon_2946639	Orthohepevirinae	http://purl.obolibrary.org/obo/NCBITaxon_3079366	Hepeviridae		
http://purl.obolibrary.org/obo/NCBITaxon_9214	Phoenicopteriformes	http://purl.obolibrary.org/obo/NCBITaxon_3073803	Mirandornithes		
http://purl.obolibrary.org/obo/NCBITaxon_30458	Strigiformes	http://purl.obolibrary.org/obo/NCBITaxon_3073808	Telluraves		
http://purl.obolibrary.org/obo/NCBITaxon_3151839	Hareavirales	http://purl.obolibrary.org/obo/NCBITaxon_3151693	Bunyaviricetes		
http://purl.obolibrary.org/obo/CHEBI_23449	cyclic peptide	http://purl.obolibrary.org/obo/CHEBI_16670	peptide		
http://purl.obolibrary.org/obo/CHEBI_3992	cyclic ketone	http://purl.obolibrary.org/obo/CHEBI_17087	ketone		
http://purl.obolibrary.org/obo/CHEBI_38187	pyridinecarbaldehyde	http://purl.obolibrary.org/obo/CHEBI_49104	heteroarenecarbaldehyde		
http://purl.obolibrary.org/obo/CHEBI_32785	tyrosinate(2-)	http://purl.obolibrary.org/obo/CHEBI_33558	alpha-amino-acid anion		
http://purl.obolibrary.org/obo/CHEBI_38179	monocyclic heteroarene	http://purl.obolibrary.org/obo/CHEBI_33833	heteroarene		
http://purl.obolibrary.org/obo/CHEBI_29195	cyanate	http://purl.obolibrary.org/obo/CHEBI_36828	pseudohalide anion		
http://purl.obolibrary.org/obo/CHEBI_48378	carboximidic acid	http://purl.obolibrary.org/obo/CHEBI_48377	imidic acid		
http://purl.obolibrary.org/obo/CHEBI_38418	1,3-thiazoles	http://purl.obolibrary.org/obo/CHEBI_48901	thiazoles		
http://purl.obolibrary.org/obo/CHEBI_35545	bipyridine	http://purl.obolibrary.org/obo/CHEBI_50511	bipyridines		
http://purl.obolibrary.org/obo/CHEBI_32178	Talc	http://purl.obolibrary.org/obo/CHEBI_50860	organic molecular entity		
http://purl.obolibrary.org/obo/CHEBI_16733	D-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_83925	non-proteinogenic alpha-amino acid		
http://purl.obolibrary.org/obo/CHEBI_28383	alpha,omega-dicarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_35692	dicarboxylic acid		
http://purl.obolibrary.org/obo/CHEBI_144644	a tetracycline zwitterion	http://purl.obolibrary.org/obo/CHEBI_26895	tetracyclines		
http://purl.obolibrary.org/obo/CHEBI_33747	nickel group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33676	d-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33767	cobalt group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33676	d-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_23334	cobalamins	http://purl.obolibrary.org/obo/CHEBI_176843	vitamin B12		
http://purl.obolibrary.org/obo/CHEBI_36970	vitamin B6 phosphate	http://purl.obolibrary.org/obo/CHEBI_37734	phosphoric ester		
http://purl.obolibrary.org/obo/CHEBI_37734	phosphoric ester	http://purl.obolibrary.org/obo/CHEBI_35701	ester		
http://purl.obolibrary.org/obo/CHEBI_47857	ureas	http://purl.obolibrary.org/obo/CHEBI_33256	primary amide		
http://purl.obolibrary.org/obo/CHEBI_29214	sulfonic acid	http://purl.obolibrary.org/obo/CHEBI_33402	sulfur oxoacid		
http://purl.obolibrary.org/obo/CHEBI_48854	sulfurous acid	http://purl.obolibrary.org/obo/CHEBI_33402	sulfur oxoacid		
http://purl.obolibrary.org/obo/CHEBI_18140	hydrogen halide	http://purl.obolibrary.org/obo/CHEBI_33405	hydracid		
http://purl.obolibrary.org/obo/CHEBI_36856	hydrogen isocyanide	http://purl.obolibrary.org/obo/CHEBI_33405	hydracid		
http://purl.obolibrary.org/obo/CHEBI_17137	hydrogensulfite	http://purl.obolibrary.org/obo/CHEBI_33482	sulfur oxoanion		
http://purl.obolibrary.org/obo/CHEBI_45696	hydrogensulfate	http://purl.obolibrary.org/obo/CHEBI_33482	sulfur oxoanion		
http://purl.obolibrary.org/obo/CHEBI_35134	metalloprotein	http://purl.obolibrary.org/obo/CHEBI_33837	conjugated protein		
http://purl.obolibrary.org/obo/CHEBI_48355	non-polar solvent	http://purl.obolibrary.org/obo/CHEBI_46787	solvent		
http://purl.obolibrary.org/obo/CHEBI_33431	elemental chlorine	http://purl.obolibrary.org/obo/CHEBI_33434	elemental halogen		
http://purl.obolibrary.org/obo/CHEBI_33402	sulfur oxoacid	http://purl.obolibrary.org/obo/CHEBI_33484	chalcogen oxoacid		
http://purl.obolibrary.org/obo/CHEBI_33482	sulfur oxoanion	http://purl.obolibrary.org/obo/CHEBI_33485	chalcogen oxoanion		
http://purl.obolibrary.org/obo/CHEBI_33424	sulfur oxoacid derivative	http://purl.obolibrary.org/obo/CHEBI_33241	oxoacid derivative		
http://purl.obolibrary.org/obo/CHEBI_18291	manganese atom	http://purl.obolibrary.org/obo/CHEBI_33352	manganese group element atom		
http://purl.obolibrary.org/obo/CHEBI_33695	information biomacromolecule	http://purl.obolibrary.org/obo/CHEBI_33694	biomacromolecule		
http://purl.obolibrary.org/obo/CHEBI_41609	carbonate	http://purl.obolibrary.org/obo/CHEBI_35604	carbon oxoanion		
http://purl.obolibrary.org/obo/CHEBI_30938	6-aminopenicillanate	http://purl.obolibrary.org/obo/CHEBI_51356	penicillinate anion		
http://purl.obolibrary.org/obo/CHEBI_51959	organic tricyclic compound	http://purl.obolibrary.org/obo/CHEBI_51958	organic polycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_37324	7,8-dimethylbenzo[g]pteridine-2,4-dione	http://purl.obolibrary.org/obo/CHEBI_38925	benzopteridine		
http://purl.obolibrary.org/obo/CHEBI_33263	diatomic oxygen	http://purl.obolibrary.org/obo/CHEBI_33262	elemental oxygen		
http://purl.obolibrary.org/obo/CHEBI_33266	diatomic nitrogen	http://purl.obolibrary.org/obo/CHEBI_33267	elemental nitrogen		
http://purl.obolibrary.org/obo/CHEBI_36829	polyatomic monoanion	http://purl.obolibrary.org/obo/CHEBI_36830	monoanion		
http://purl.obolibrary.org/obo/CHEBI_37826	sulfuric acid derivative	http://purl.obolibrary.org/obo/CHEBI_33424	sulfur oxoacid derivative		
http://purl.obolibrary.org/obo/CHEBI_33432	monoatomic chlorine	http://purl.obolibrary.org/obo/CHEBI_33433	monoatomic halogen		
http://purl.obolibrary.org/obo/CHEBI_33352	manganese group element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_33356	iron group element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_33358	cobalt group element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_33362	nickel group element atom	http://purl.obolibrary.org/obo/CHEBI_27081	transition element atom		
http://purl.obolibrary.org/obo/CHEBI_33679	helium molecular entity	http://purl.obolibrary.org/obo/CHEBI_33674	s-block molecular entity		
http://purl.obolibrary.org/obo/CHEBI_36908	argon molecular entity	http://purl.obolibrary.org/obo/CHEBI_33583	noble gas molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33635	polycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_33661	monocyclic compound	http://purl.obolibrary.org/obo/CHEBI_33595	cyclic compound		
http://purl.obolibrary.org/obo/CHEBI_35295	homopolycyclic compound	http://purl.obolibrary.org/obo/CHEBI_33635	polycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_35427	ortho-fused polycyclic hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_33637	ortho-fused compound		
http://purl.obolibrary.org/obo/CHEBI_33842	aromatic annulene	http://purl.obolibrary.org/obo/CHEBI_33847	monocyclic arene		
http://purl.obolibrary.org/obo/CHEBI_33664	monocyclic hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_33663	cyclic hydrocarbon		
http://purl.obolibrary.org/obo/CHEBI_36688	heterotricyclic compound	http://purl.obolibrary.org/obo/CHEBI_33671	heteropolycyclic compound		
http://purl.obolibrary.org/obo/CHEBI_37176	mononuclear parent hydride	http://purl.obolibrary.org/obo/CHEBI_33692	hydrides		
http://purl.obolibrary.org/obo/CHEBI_37175	organic hydride	http://purl.obolibrary.org/obo/CHEBI_33692	hydrides		
http://purl.obolibrary.org/obo/CHEBI_33719	alpha-amino-acid cation	http://purl.obolibrary.org/obo/CHEBI_33703	amino-acid cation		
http://purl.obolibrary.org/obo/CHEBI_33700	proteinogenic amino-acid residue	http://purl.obolibrary.org/obo/CHEBI_33710	alpha-amino-acid residue		
http://purl.obolibrary.org/obo/CHEBI_33748	nickel molecular entity	http://purl.obolibrary.org/obo/CHEBI_33747	nickel group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33888	cobalt molecular entity	http://purl.obolibrary.org/obo/CHEBI_33767	cobalt group molecular entity		
http://purl.obolibrary.org/obo/CHEBI_33890	cobalt coordination entity	http://purl.obolibrary.org/obo/CHEBI_33888	cobalt molecular entity		
http://purl.obolibrary.org/obo/GO_0008395	steroid hydroxylase activity	http://purl.obolibrary.org/obo/GO_0004497	monooxygenase activity		
http://purl.obolibrary.org/obo/GO_0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	http://purl.obolibrary.org/obo/GO_0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen		
http://purl.obolibrary.org/obo/GO_0004674	protein serine/threonine kinase activity	http://purl.obolibrary.org/obo/GO_0004672	protein kinase activity		
http://purl.obolibrary.org/obo/GO_0004683	calcium/calmodulin-dependent protein kinase activity	http://purl.obolibrary.org/obo/GO_0004674	protein serine/threonine kinase activity		
http://purl.obolibrary.org/obo/GO_0004689	phosphorylase kinase activity	http://purl.obolibrary.org/obo/GO_0004683	calcium/calmodulin-dependent protein kinase activity		
http://purl.obolibrary.org/obo/GO_0019210	kinase inhibitor activity	http://purl.obolibrary.org/obo/GO_0019207	kinase regulator activity		
http://purl.obolibrary.org/obo/GO_0030414	peptidase inhibitor activity	http://purl.obolibrary.org/obo/GO_0061134	peptidase regulator activity		
http://purl.obolibrary.org/obo/GO_0019212	phosphatase inhibitor activity	http://purl.obolibrary.org/obo/GO_0019208	phosphatase regulator activity		
http://purl.obolibrary.org/obo/GO_0140631	aldehyde dehydrogenase (NAD+) inhibitor activity	http://purl.obolibrary.org/obo/GO_0004857	enzyme inhibitor activity		
http://purl.obolibrary.org/obo/GO_0030291	protein serine/threonine kinase inhibitor activity	http://purl.obolibrary.org/obo/GO_0004860	protein kinase inhibitor activity		
http://purl.obolibrary.org/obo/GO_0004867	serine-type endopeptidase inhibitor activity	http://purl.obolibrary.org/obo/GO_0004866	endopeptidase inhibitor activity		
http://purl.obolibrary.org/obo/GO_0004972	NMDA glutamate receptor activity	http://purl.obolibrary.org/obo/GO_0005244	voltage-gated monoatomic ion channel activity		
http://purl.obolibrary.org/obo/GO_0005183	gonadotropin hormone-releasing hormone activity	http://purl.obolibrary.org/obo/GO_0005179	hormone activity		
http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0005215	transporter activity		
http://purl.obolibrary.org/obo/GO_0005244	voltage-gated monoatomic ion channel activity	http://purl.obolibrary.org/obo/GO_0022832	voltage-gated channel activity		
http://purl.obolibrary.org/obo/GO_0005261	monoatomic cation channel activity	http://purl.obolibrary.org/obo/GO_0008324	monoatomic cation transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015276	ligand-gated monoatomic ion channel activity	http://purl.obolibrary.org/obo/GO_0022834	ligand-gated channel activity		
http://purl.obolibrary.org/obo/GO_0005231	excitatory extracellular ligand-gated monoatomic ion channel activity	http://purl.obolibrary.org/obo/GO_0005230	extracellular ligand-gated monoatomic ion channel activity		
http://purl.obolibrary.org/obo/GO_0022824	transmitter-gated monoatomic ion channel activity	http://purl.obolibrary.org/obo/GO_0022835	transmitter-gated channel activity		
http://purl.obolibrary.org/obo/GO_0022848	acetylcholine-gated monoatomic cation-selective channel activity	http://purl.obolibrary.org/obo/GO_0098960	postsynaptic neurotransmitter receptor activity		
http://purl.obolibrary.org/obo/GO_0022843	voltage-gated monoatomic cation channel activity	http://purl.obolibrary.org/obo/GO_0005261	monoatomic cation channel activity		
http://purl.obolibrary.org/obo/GO_1905030	voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	http://purl.obolibrary.org/obo/GO_0005244	voltage-gated monoatomic ion channel activity		
http://purl.obolibrary.org/obo/GO_0019855	calcium channel inhibitor activity	http://purl.obolibrary.org/obo/GO_0008200	ion channel inhibitor activity		
http://purl.obolibrary.org/obo/GO_0005262	calcium channel activity	http://purl.obolibrary.org/obo/GO_0015085	calcium ion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0099094	ligand-gated monoatomic cation channel activity	http://purl.obolibrary.org/obo/GO_0015276	ligand-gated monoatomic ion channel activity		
http://purl.obolibrary.org/obo/GO_0005499	vitamin D binding	http://purl.obolibrary.org/obo/GO_0019842	vitamin binding		
http://purl.obolibrary.org/obo/GO_1902271	D3 vitamins binding	http://purl.obolibrary.org/obo/GO_0005499	vitamin D binding		
http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex	http://purl.obolibrary.org/obo/GO_0005575	cellular_component		
http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure	http://purl.obolibrary.org/obo/GO_0005575	cellular_component		
http://purl.obolibrary.org/obo/GO_0005583	fibrillar collagen trimer	http://purl.obolibrary.org/obo/GO_0140392	extracellular protein-containing complex		
http://purl.obolibrary.org/obo/GO_0005593	FACIT collagen trimer	http://purl.obolibrary.org/obo/GO_0140392	extracellular protein-containing complex		
http://purl.obolibrary.org/obo/GO_0030936	transmembrane collagen trimer	http://purl.obolibrary.org/obo/GO_0098797	plasma membrane protein complex		
http://purl.obolibrary.org/obo/GO_0098642	network-forming collagen trimer	http://purl.obolibrary.org/obo/GO_0140392	extracellular protein-containing complex		
http://purl.obolibrary.org/obo/GO_0140158	von-Willerbrand-factor-A-domain-rich collagen trimer	http://purl.obolibrary.org/obo/GO_0005581	collagen trimer		
http://purl.obolibrary.org/obo/GO_0005584	collagen type I trimer	http://purl.obolibrary.org/obo/GO_0005583	fibrillar collagen trimer		
http://purl.obolibrary.org/obo/GO_0005585	collagen type II trimer	http://purl.obolibrary.org/obo/GO_0005583	fibrillar collagen trimer		
http://purl.obolibrary.org/obo/GO_0005592	collagen type XI trimer	http://purl.obolibrary.org/obo/GO_0005583	fibrillar collagen trimer		
http://purl.obolibrary.org/obo/GO_0005594	collagen type IX trimer	http://purl.obolibrary.org/obo/GO_0005593	FACIT collagen trimer		
http://purl.obolibrary.org/obo/GO_0042582	azurophil granule	http://purl.obolibrary.org/obo/GO_0030141	secretory granule		
http://purl.obolibrary.org/obo/GO_0045111	intermediate filament cytoskeleton	http://purl.obolibrary.org/obo/GO_0005856	cytoskeleton		
http://purl.obolibrary.org/obo/GO_0099569	presynaptic cytoskeleton	http://purl.obolibrary.org/obo/GO_0005856	cytoskeleton		
http://purl.obolibrary.org/obo/GO_0015629	actin cytoskeleton	http://purl.obolibrary.org/obo/GO_0005856	cytoskeleton		
http://purl.obolibrary.org/obo/GO_0015630	microtubule cytoskeleton	http://purl.obolibrary.org/obo/GO_0005856	cytoskeleton		
http://purl.obolibrary.org/obo/GO_0099571	postsynaptic cytoskeleton	http://purl.obolibrary.org/obo/GO_0005856	cytoskeleton		
http://purl.obolibrary.org/obo/GO_0036156	inner dynein arm	http://purl.obolibrary.org/obo/GO_0005858	axonemal dynein complex		
http://purl.obolibrary.org/obo/GO_0036157	outer dynein arm	http://purl.obolibrary.org/obo/GO_0005858	axonemal dynein complex		
http://purl.obolibrary.org/obo/GO_0005881	cytoplasmic microtubule	http://purl.obolibrary.org/obo/GO_0005874	microtubule		
http://purl.obolibrary.org/obo/GO_0030286	dynein complex	http://purl.obolibrary.org/obo/GO_1902494	catalytic complex		
http://purl.obolibrary.org/obo/GO_0097649	A axonemal microtubule	http://purl.obolibrary.org/obo/GO_0005879	axonemal microtubule		
http://purl.obolibrary.org/obo/GO_0097650	B axonemal microtubule	http://purl.obolibrary.org/obo/GO_0005879	axonemal microtubule		
http://purl.obolibrary.org/obo/GO_1990719	C1 axonemal microtubule	http://purl.obolibrary.org/obo/GO_0005879	axonemal microtubule		
http://purl.obolibrary.org/obo/GO_1990720	C2 axonemal microtubule	http://purl.obolibrary.org/obo/GO_0005879	axonemal microtubule		
http://purl.obolibrary.org/obo/GO_0005638	lamin filament	http://purl.obolibrary.org/obo/GO_0005882	intermediate filament		
http://purl.obolibrary.org/obo/GO_0045095	keratin filament	http://purl.obolibrary.org/obo/GO_0005882	intermediate filament		
http://purl.obolibrary.org/obo/GO_0030057	desmosome	http://purl.obolibrary.org/obo/GO_0005911	cell-cell junction		
http://purl.obolibrary.org/obo/GO_0031514	motile cilium	http://purl.obolibrary.org/obo/GO_0005929	cilium		
http://purl.obolibrary.org/obo/GO_0099738	cell cortex region	http://purl.obolibrary.org/obo/GO_0099568	cytoplasmic region		
http://purl.obolibrary.org/obo/GO_0005996	monosaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0044281	small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0006071	glycerol metabolic process	http://purl.obolibrary.org/obo/GO_0019751	polyol metabolic process		
http://purl.obolibrary.org/obo/GO_0009311	oligosaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0005975	carbohydrate metabolic process		
http://purl.obolibrary.org/obo/GO_0005976	polysaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0043170	macromolecule metabolic process		
http://purl.obolibrary.org/obo/GO_0016051	carbohydrate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0016052	carbohydrate catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0046835	carbohydrate phosphorylation	http://purl.obolibrary.org/obo/GO_0016310	phosphorylation		
http://purl.obolibrary.org/obo/GO_0045719	negative regulation of glycogen biosynthetic process	http://purl.obolibrary.org/obo/GO_0070874	negative regulation of glycogen metabolic process		
http://purl.obolibrary.org/obo/GO_0045725	positive regulation of glycogen biosynthetic process	http://purl.obolibrary.org/obo/GO_0070875	positive regulation of glycogen metabolic process		
http://purl.obolibrary.org/obo/GO_0045818	negative regulation of glycogen catabolic process	http://purl.obolibrary.org/obo/GO_0009895	negative regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0045819	positive regulation of glycogen catabolic process	http://purl.obolibrary.org/obo/GO_0009896	positive regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0019318	hexose metabolic process	http://purl.obolibrary.org/obo/GO_0005996	monosaccharide metabolic process		
http://purl.obolibrary.org/obo/GO_0019852	L-ascorbic acid metabolic process	http://purl.obolibrary.org/obo/GO_1901334	lactone metabolic process		
http://purl.obolibrary.org/obo/GO_0046364	monosaccharide biosynthetic process	http://purl.obolibrary.org/obo/GO_0044283	small molecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006094	gluconeogenesis	http://purl.obolibrary.org/obo/GO_0019319	hexose biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006023	aminoglycan biosynthetic process	http://purl.obolibrary.org/obo/GO_0009059	macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0030203	glycosaminoglycan metabolic process	http://purl.obolibrary.org/obo/GO_0006022	aminoglycan metabolic process		
http://purl.obolibrary.org/obo/GO_0006024	glycosaminoglycan biosynthetic process	http://purl.obolibrary.org/obo/GO_0030203	glycosaminoglycan metabolic process		
http://purl.obolibrary.org/obo/GO_0030213	hyaluronan biosynthetic process	http://purl.obolibrary.org/obo/GO_0030212	hyaluronan metabolic process		
http://purl.obolibrary.org/obo/GO_0030202	heparin proteoglycan metabolic process	http://purl.obolibrary.org/obo/GO_0006029	proteoglycan metabolic process		
http://purl.obolibrary.org/obo/GO_0030166	proteoglycan biosynthetic process	http://purl.obolibrary.org/obo/GO_0009101	glycoprotein biosynthetic process		
http://purl.obolibrary.org/obo/GO_0019751	polyol metabolic process	http://purl.obolibrary.org/obo/GO_0006066	alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_0034308	primary alcohol metabolic process	http://purl.obolibrary.org/obo/GO_0006066	alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_0046164	alcohol catabolic process	http://purl.obolibrary.org/obo/GO_0044282	small molecule catabolic process		
http://purl.obolibrary.org/obo/GO_0046165	alcohol biosynthetic process	http://purl.obolibrary.org/obo/GO_0044283	small molecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_1902644	tertiary alcohol metabolic process	http://purl.obolibrary.org/obo/GO_0006066	alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_1902652	secondary alcohol metabolic process	http://purl.obolibrary.org/obo/GO_0006066	alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_0043436	oxoacid metabolic process	http://purl.obolibrary.org/obo/GO_0006082	organic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0016053	organic acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0044283	small molecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0016054	organic acid catabolic process	http://purl.obolibrary.org/obo/GO_0044282	small molecule catabolic process		
http://purl.obolibrary.org/obo/GO_0006096	glycolytic process	http://purl.obolibrary.org/obo/GO_0016052	carbohydrate catabolic process		
http://purl.obolibrary.org/obo/GO_0042866	pyruvate biosynthetic process	http://purl.obolibrary.org/obo/GO_0072330	monocarboxylic acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0015980	energy derivation by oxidation of organic compounds	http://purl.obolibrary.org/obo/GO_0006091	generation of precursor metabolites and energy		
http://purl.obolibrary.org/obo/GO_1902224	ketone body metabolic process	http://purl.obolibrary.org/obo/GO_1901568	fatty acid derivative metabolic process		
http://purl.obolibrary.org/obo/GO_0061615	glycolytic process through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_0006096	glycolytic process		
http://purl.obolibrary.org/obo/GO_0010906	regulation of glucose metabolic process	http://purl.obolibrary.org/obo/GO_0062012	regulation of small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0043255	regulation of carbohydrate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0043470	regulation of carbohydrate catabolic process	http://purl.obolibrary.org/obo/GO_0009894	regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0032881	regulation of polysaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0060255	regulation of macromolecule metabolic process		
http://purl.obolibrary.org/obo/GO_0045912	negative regulation of carbohydrate metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0045913	positive regulation of carbohydrate metabolic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0045820	negative regulation of glycolytic process	http://purl.obolibrary.org/obo/GO_0045912	negative regulation of carbohydrate metabolic process		
http://purl.obolibrary.org/obo/GO_0045821	positive regulation of glycolytic process	http://purl.obolibrary.org/obo/GO_0045913	positive regulation of carbohydrate metabolic process		
http://purl.obolibrary.org/obo/GO_1904538	regulation of glycolytic process through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_0006110	regulation of glycolytic process		
http://purl.obolibrary.org/obo/GO_0045722	positive regulation of gluconeogenesis	http://purl.obolibrary.org/obo/GO_0010907	positive regulation of glucose metabolic process		
http://purl.obolibrary.org/obo/GO_0005977	glycogen metabolic process	http://purl.obolibrary.org/obo/GO_0044042	glucan metabolic process		
http://purl.obolibrary.org/obo/GO_0034655	nucleobase-containing compound catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0055086	nucleobase-containing small molecule metabolic process	http://purl.obolibrary.org/obo/GO_0044281	small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0090304	nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0043170	macromolecule metabolic process		
http://purl.obolibrary.org/obo/GO_0034654	nucleobase-containing compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0030808	regulation of nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0030811	regulation of nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_0009894	regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_1900542	regulation of purine nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0006140	regulation of nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0046110	xanthine metabolic process	http://purl.obolibrary.org/obo/GO_0006144	purine nucleobase metabolic process		
http://purl.obolibrary.org/obo/GO_0006164	purine nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0072522	purine-containing compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006195	purine nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_0072523	purine-containing compound catabolic process		
http://purl.obolibrary.org/obo/GO_0009150	purine ribonucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0009259	ribonucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0009152	purine ribonucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0009260	ribonucleotide biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009154	purine ribonucleotide catabolic process	http://purl.obolibrary.org/obo/GO_0009261	ribonucleotide catabolic process		
http://purl.obolibrary.org/obo/GO_0045738	negative regulation of DNA repair	http://purl.obolibrary.org/obo/GO_0048585	negative regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0045739	positive regulation of DNA repair	http://purl.obolibrary.org/obo/GO_0051054	positive regulation of DNA metabolic process		
http://purl.obolibrary.org/obo/GO_2000819	regulation of nucleotide-excision repair	http://purl.obolibrary.org/obo/GO_0006282	regulation of DNA repair		
http://purl.obolibrary.org/obo/GO_0043039	tRNA aminoacylation	http://purl.obolibrary.org/obo/GO_0043038	amino acid activation		
http://purl.obolibrary.org/obo/GO_0006446	regulation of translational initiation	http://purl.obolibrary.org/obo/GO_0006417	regulation of translation		
http://purl.obolibrary.org/obo/GO_0006448	regulation of translational elongation	http://purl.obolibrary.org/obo/GO_0006417	regulation of translation		
http://purl.obolibrary.org/obo/GO_0006449	regulation of translational termination	http://purl.obolibrary.org/obo/GO_0043244	regulation of protein-containing complex disassembly		
http://purl.obolibrary.org/obo/GO_0017148	negative regulation of translation	http://purl.obolibrary.org/obo/GO_0051248	negative regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_1904803	regulation of translation involved in cellular response to UV	http://purl.obolibrary.org/obo/GO_0006417	regulation of translation		
http://purl.obolibrary.org/obo/GO_0140243	regulation of translation at synapse	http://purl.obolibrary.org/obo/GO_0006417	regulation of translation		
http://purl.obolibrary.org/obo/GO_0043555	regulation of translation in response to stress	http://purl.obolibrary.org/obo/GO_0006417	regulation of translation		
http://purl.obolibrary.org/obo/GO_0043143	regulation of translation by machinery localization	http://purl.obolibrary.org/obo/GO_0008104	intracellular protein localization		
http://purl.obolibrary.org/obo/GO_2000765	regulation of cytoplasmic translation	http://purl.obolibrary.org/obo/GO_0006417	regulation of translation		
http://purl.obolibrary.org/obo/GO_0045727	positive regulation of translation	http://purl.obolibrary.org/obo/GO_0010628	positive regulation of gene expression		
http://purl.obolibrary.org/obo/GO_0045947	negative regulation of translational initiation	http://purl.obolibrary.org/obo/GO_0017148	negative regulation of translation		
http://purl.obolibrary.org/obo/GO_0045948	positive regulation of translational initiation	http://purl.obolibrary.org/obo/GO_0045727	positive regulation of translation		
http://purl.obolibrary.org/obo/GO_1904688	regulation of cytoplasmic translational initiation	http://purl.obolibrary.org/obo/GO_2000765	regulation of cytoplasmic translation		
http://purl.obolibrary.org/obo/GO_0043558	regulation of translational initiation in response to stress	http://purl.obolibrary.org/obo/GO_0043555	regulation of translation in response to stress		
http://purl.obolibrary.org/obo/GO_0070132	regulation of mitochondrial translational initiation	http://purl.obolibrary.org/obo/GO_0070129	regulation of mitochondrial translation		
http://purl.obolibrary.org/obo/GO_0045900	negative regulation of translational elongation	http://purl.obolibrary.org/obo/GO_0017148	negative regulation of translation		
http://purl.obolibrary.org/obo/GO_0045901	positive regulation of translational elongation	http://purl.obolibrary.org/obo/GO_0045727	positive regulation of translation		
http://purl.obolibrary.org/obo/GO_1905082	regulation of mitochondrial translational elongation	http://purl.obolibrary.org/obo/GO_0006448	regulation of translational elongation		
http://purl.obolibrary.org/obo/GO_1900247	regulation of cytoplasmic translational elongation	http://purl.obolibrary.org/obo/GO_0006448	regulation of translational elongation		
http://purl.obolibrary.org/obo/GO_0045904	negative regulation of translational termination	http://purl.obolibrary.org/obo/GO_0043242	negative regulation of protein-containing complex disassembly		
http://purl.obolibrary.org/obo/GO_0045905	positive regulation of translational termination	http://purl.obolibrary.org/obo/GO_0045727	positive regulation of translation		
http://purl.obolibrary.org/obo/GO_1990580	regulation of cytoplasmic translational termination	http://purl.obolibrary.org/obo/GO_2000765	regulation of cytoplasmic translation		
http://purl.obolibrary.org/obo/GO_0071901	negative regulation of protein serine/threonine kinase activity	http://purl.obolibrary.org/obo/GO_0071900	regulation of protein serine/threonine kinase activity		
http://purl.obolibrary.org/obo/GO_0180064	protein O-linked glycosylation via xylose	http://purl.obolibrary.org/obo/GO_0006493	protein O-linked glycosylation		
http://purl.obolibrary.org/obo/GO_0006506	GPI anchor biosynthetic process	http://purl.obolibrary.org/obo/GO_0046474	glycerophospholipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0043043	peptide biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009087	L-methionine catabolic process	http://purl.obolibrary.org/obo/GO_0170040	proteinogenic amino acid catabolic process		
http://purl.obolibrary.org/obo/GO_0006564	L-serine biosynthetic process	http://purl.obolibrary.org/obo/GO_0170038	proteinogenic amino acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006572	L-tyrosine catabolic process	http://purl.obolibrary.org/obo/GO_0170040	proteinogenic amino acid catabolic process		
http://purl.obolibrary.org/obo/GO_0042423	catecholamine biosynthetic process	http://purl.obolibrary.org/obo/GO_0009713	catechol-containing compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006601	creatine biosynthetic process	http://purl.obolibrary.org/obo/GO_0072330	monocarboxylic acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006644	phospholipid metabolic process	http://purl.obolibrary.org/obo/GO_0019637	organophosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0006665	sphingolipid metabolic process	http://purl.obolibrary.org/obo/GO_0006629	lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0006720	isoprenoid metabolic process	http://purl.obolibrary.org/obo/GO_0006629	lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0008202	steroid metabolic process	http://purl.obolibrary.org/obo/GO_0006629	lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0008610	lipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0016042	lipid catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0046486	glycerolipid metabolic process	http://purl.obolibrary.org/obo/GO_0006629	lipid metabolic process		
http://purl.obolibrary.org/obo/GO_1901568	fatty acid derivative metabolic process	http://purl.obolibrary.org/obo/GO_0006629	lipid metabolic process		
http://purl.obolibrary.org/obo/GO_1903509	liposaccharide metabolic process	http://purl.obolibrary.org/obo/GO_1901135	carbohydrate derivative metabolic process		
http://purl.obolibrary.org/obo/GO_0006631	fatty acid metabolic process	http://purl.obolibrary.org/obo/GO_0032787	monocarboxylic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0030258	lipid modification	http://purl.obolibrary.org/obo/GO_0006629	lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0046485	ether lipid metabolic process	http://purl.obolibrary.org/obo/GO_0006629	lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0006650	glycerophospholipid metabolic process	http://purl.obolibrary.org/obo/GO_0046486	glycerolipid metabolic process		
http://purl.obolibrary.org/obo/GO_0008654	phospholipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0090407	organophosphate biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006505	GPI anchor metabolic process	http://purl.obolibrary.org/obo/GO_0006664	glycolipid metabolic process		
http://purl.obolibrary.org/obo/GO_0046474	glycerophospholipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0045017	glycerolipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009247	glycolipid biosynthetic process	http://purl.obolibrary.org/obo/GO_1901137	carbohydrate derivative biosynthetic process		
http://purl.obolibrary.org/obo/GO_0030148	sphingolipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0008610	lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0016126	sterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0016125	sterol metabolic process		
http://purl.obolibrary.org/obo/GO_0042368	vitamin D biosynthetic process	http://purl.obolibrary.org/obo/GO_0042362	fat-soluble vitamin biosynthetic process		
http://purl.obolibrary.org/obo/GO_0033490	cholesterol biosynthetic process via lathosterol	http://purl.obolibrary.org/obo/GO_0006695	cholesterol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0016127	sterol catabolic process	http://purl.obolibrary.org/obo/GO_0016125	sterol metabolic process		
http://purl.obolibrary.org/obo/GO_0006721	terpenoid metabolic process	http://purl.obolibrary.org/obo/GO_0006720	isoprenoid metabolic process		
http://purl.obolibrary.org/obo/GO_0016101	diterpenoid metabolic process	http://purl.obolibrary.org/obo/GO_0006721	terpenoid metabolic process		
http://purl.obolibrary.org/obo/GO_0016116	carotenoid metabolic process	http://purl.obolibrary.org/obo/GO_0006721	terpenoid metabolic process		
http://purl.obolibrary.org/obo/GO_0006744	ubiquinone biosynthetic process	http://purl.obolibrary.org/obo/GO_1901663	quinone biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006750	glutathione biosynthetic process	http://purl.obolibrary.org/obo/GO_0044272	sulfur compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009117	nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0006753	nucleoside phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009132	nucleoside diphosphate metabolic process	http://purl.obolibrary.org/obo/GO_0006753	nucleoside phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009123	nucleoside monophosphate metabolic process	http://purl.obolibrary.org/obo/GO_0006753	nucleoside phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009141	nucleoside triphosphate metabolic process	http://purl.obolibrary.org/obo/GO_0006753	nucleoside phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_1901292	nucleoside phosphate catabolic process	http://purl.obolibrary.org/obo/GO_0046434	organophosphate catabolic process		
http://purl.obolibrary.org/obo/GO_1901293	nucleoside phosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_0034654	nucleobase-containing compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0015986	proton motive force-driven ATP synthesis	http://purl.obolibrary.org/obo/GO_0006754	ATP biosynthetic process		
http://purl.obolibrary.org/obo/GO_0046655	folic acid metabolic process	http://purl.obolibrary.org/obo/GO_0043648	dicarboxylic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0009110	vitamin biosynthetic process	http://purl.obolibrary.org/obo/GO_0044283	small molecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006796	phosphate-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0006793	phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0019637	organophosphate metabolic process	http://purl.obolibrary.org/obo/GO_0006793	phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0046488	phosphatidylinositol metabolic process	http://purl.obolibrary.org/obo/GO_0006793	phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0006753	nucleoside phosphate metabolic process	http://purl.obolibrary.org/obo/GO_0055086	nucleobase-containing small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0016310	phosphorylation	http://purl.obolibrary.org/obo/GO_0006796	phosphate-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0016311	dephosphorylation	http://purl.obolibrary.org/obo/GO_0006796	phosphate-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0019693	ribose phosphate metabolic process	http://purl.obolibrary.org/obo/GO_1901135	carbohydrate derivative metabolic process		
http://purl.obolibrary.org/obo/GO_0140352	export from cell	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0006811	monoatomic ion transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0006858	extracellular transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0008643	carbohydrate transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0015031	protein transport	http://purl.obolibrary.org/obo/GO_0045184	establishment of protein localization		
http://purl.obolibrary.org/obo/GO_0015850	organic hydroxy compound transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0016192	vesicle-mediated transport	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0042044	fluid transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0046907	intracellular transport	http://purl.obolibrary.org/obo/GO_0051641	cellular localization		
http://purl.obolibrary.org/obo/GO_0055085	transmembrane transport	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0071705	nitrogen compound transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0006836	neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0006865	amino acid transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0006869	lipid transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0009914	hormone transport	http://purl.obolibrary.org/obo/GO_0010817	regulation of hormone levels		
http://purl.obolibrary.org/obo/GO_0015698	inorganic anion transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0015711	organic anion transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0015748	organophosphate ester transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0015833	peptide transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0046903	secretion	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0072348	sulfur compound transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0098657	import into cell	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0015669	gas transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0015695	organic cation transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0015849	organic acid transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0019755	one-carbon compound transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0042908	xenobiotic transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0051180	vitamin transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0099111	microtubule-based transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_1901264	carbohydrate derivative transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_1901374	acetate ester transport	http://purl.obolibrary.org/obo/GO_0006810	transport		
http://purl.obolibrary.org/obo/GO_0006812	monoatomic cation transport	http://purl.obolibrary.org/obo/GO_0006811	monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0006820	monoatomic anion transport	http://purl.obolibrary.org/obo/GO_0006811	monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0034220	monoatomic ion transmembrane transport	http://purl.obolibrary.org/obo/GO_0055085	transmembrane transport		
http://purl.obolibrary.org/obo/GO_0030001	metal ion transport	http://purl.obolibrary.org/obo/GO_0006812	monoatomic cation transport		
http://purl.obolibrary.org/obo/GO_0098655	monoatomic cation transmembrane transport	http://purl.obolibrary.org/obo/GO_0034220	monoatomic ion transmembrane transport		
http://purl.obolibrary.org/obo/GO_0006821	chloride transport	http://purl.obolibrary.org/obo/GO_0015698	inorganic anion transport		
http://purl.obolibrary.org/obo/GO_0098656	monoatomic anion transmembrane transport	http://purl.obolibrary.org/obo/GO_0034220	monoatomic ion transmembrane transport		
http://purl.obolibrary.org/obo/GO_1902476	chloride transmembrane transport	http://purl.obolibrary.org/obo/GO_0098656	monoatomic anion transmembrane transport		
http://purl.obolibrary.org/obo/GO_0034755	iron ion transmembrane transport	http://purl.obolibrary.org/obo/GO_0098655	monoatomic cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0014047	glutamate secretion	http://purl.obolibrary.org/obo/GO_0015800	acidic amino acid transport		
http://purl.obolibrary.org/obo/GO_0015723	bilirubin transport	http://purl.obolibrary.org/obo/GO_0071705	nitrogen compound transport		
http://purl.obolibrary.org/obo/GO_0051938	L-glutamate import	http://purl.obolibrary.org/obo/GO_0015807	L-amino acid transport		
http://purl.obolibrary.org/obo/GO_0006860	extracellular amino acid transport	http://purl.obolibrary.org/obo/GO_0006865	amino acid transport		
http://purl.obolibrary.org/obo/GO_0030003	intracellular monoatomic cation homeostasis	http://purl.obolibrary.org/obo/GO_0055080	monoatomic cation homeostasis		
http://purl.obolibrary.org/obo/GO_0007036	vacuolar calcium ion homeostasis	http://purl.obolibrary.org/obo/GO_0006874	intracellular calcium ion homeostasis		
http://purl.obolibrary.org/obo/GO_0051560	mitochondrial calcium ion homeostasis	http://purl.obolibrary.org/obo/GO_0006874	intracellular calcium ion homeostasis		
http://purl.obolibrary.org/obo/GO_0032468	Golgi calcium ion homeostasis	http://purl.obolibrary.org/obo/GO_0006874	intracellular calcium ion homeostasis		
http://purl.obolibrary.org/obo/GO_0045055	regulated exocytosis	http://purl.obolibrary.org/obo/GO_0006887	exocytosis		
http://purl.obolibrary.org/obo/GO_0140238	presynaptic endocytosis	http://purl.obolibrary.org/obo/GO_0099003	vesicle-mediated transport in synapse		
http://purl.obolibrary.org/obo/GO_0006898	receptor-mediated endocytosis	http://purl.obolibrary.org/obo/GO_0006897	endocytosis		
http://purl.obolibrary.org/obo/GO_0140239	postsynaptic endocytosis	http://purl.obolibrary.org/obo/GO_0099003	vesicle-mediated transport in synapse		
http://purl.obolibrary.org/obo/GO_0006909	phagocytosis	http://purl.obolibrary.org/obo/GO_0006897	endocytosis		
http://purl.obolibrary.org/obo/GO_0048199	vesicle targeting, to, from or within Golgi	http://purl.obolibrary.org/obo/GO_0006903	vesicle targeting		
http://purl.obolibrary.org/obo/GO_0099500	vesicle fusion to plasma membrane	http://purl.obolibrary.org/obo/GO_0140029	exocytic process		
http://purl.obolibrary.org/obo/GO_0030262	apoptotic nuclear changes	http://purl.obolibrary.org/obo/GO_0006921	cellular component disassembly involved in execution phase of apoptosis		
http://purl.obolibrary.org/obo/GO_0060326	cell chemotaxis	http://purl.obolibrary.org/obo/GO_0016477	cell migration		
http://purl.obolibrary.org/obo/GO_0006939	smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0006936	muscle contraction		
http://purl.obolibrary.org/obo/GO_0006941	striated muscle contraction	http://purl.obolibrary.org/obo/GO_0006936	muscle contraction		
http://purl.obolibrary.org/obo/GO_0006942	regulation of striated muscle contraction	http://purl.obolibrary.org/obo/GO_0006937	regulation of muscle contraction		
http://purl.obolibrary.org/obo/GO_0045932	negative regulation of muscle contraction	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0045933	positive regulation of muscle contraction	http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0006940	regulation of smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0006937	regulation of muscle contraction		
http://purl.obolibrary.org/obo/GO_0014821	phasic smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0006939	smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0014831	gastro-intestinal system smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0006939	smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0014848	urinary tract smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0006939	smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0014819	regulation of skeletal muscle contraction	http://purl.obolibrary.org/obo/GO_0006942	regulation of striated muscle contraction		
http://purl.obolibrary.org/obo/GO_0045988	negative regulation of striated muscle contraction	http://purl.obolibrary.org/obo/GO_0045932	negative regulation of muscle contraction		
http://purl.obolibrary.org/obo/GO_0045989	positive regulation of striated muscle contraction	http://purl.obolibrary.org/obo/GO_0045933	positive regulation of muscle contraction		
http://purl.obolibrary.org/obo/GO_0055117	regulation of cardiac muscle contraction	http://purl.obolibrary.org/obo/GO_0008016	regulation of heart contraction		
http://purl.obolibrary.org/obo/GO_0006997	nucleus organization	http://purl.obolibrary.org/obo/GO_0006996	organelle organization		
http://purl.obolibrary.org/obo/GO_0007005	mitochondrion organization	http://purl.obolibrary.org/obo/GO_0006996	organelle organization		
http://purl.obolibrary.org/obo/GO_0007010	cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0006996	organelle organization		
http://purl.obolibrary.org/obo/GO_0016050	vesicle organization	http://purl.obolibrary.org/obo/GO_0006996	organelle organization		
http://purl.obolibrary.org/obo/GO_0048284	organelle fusion	http://purl.obolibrary.org/obo/GO_0006996	organelle organization		
http://purl.obolibrary.org/obo/GO_0048285	organelle fission	http://purl.obolibrary.org/obo/GO_0006996	organelle organization		
http://purl.obolibrary.org/obo/GO_0051276	chromosome organization	http://purl.obolibrary.org/obo/GO_0006996	organelle organization		
http://purl.obolibrary.org/obo/GO_0070925	organelle assembly	http://purl.obolibrary.org/obo/GO_0022607	cellular component assembly		
http://purl.obolibrary.org/obo/GO_0007041	lysosomal transport	http://purl.obolibrary.org/obo/GO_0007034	vacuolar transport		
http://purl.obolibrary.org/obo/GO_0098813	nuclear chromosome segregation	http://purl.obolibrary.org/obo/GO_0007059	chromosome segregation		
http://purl.obolibrary.org/obo/GO_0045839	negative regulation of mitotic nuclear division	http://purl.obolibrary.org/obo/GO_0010948	negative regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_0045840	positive regulation of mitotic nuclear division	http://purl.obolibrary.org/obo/GO_0090068	positive regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_0007142	male meiosis II	http://purl.obolibrary.org/obo/GO_0007140	male meiotic nuclear division		
http://purl.obolibrary.org/obo/GO_0007147	female meiosis II	http://purl.obolibrary.org/obo/GO_0007143	female meiotic nuclear division		
http://purl.obolibrary.org/obo/GO_0022408	negative regulation of cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0022407	regulation of cell-cell adhesion		
http://purl.obolibrary.org/obo/GO_0035235	ionotropic glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1990806	ligand-gated ion channel signaling pathway		
http://purl.obolibrary.org/obo/GO_0007265	Ras protein signal transduction	http://purl.obolibrary.org/obo/GO_0007264	small GTPase-mediated signal transduction		
http://purl.obolibrary.org/obo/GO_0007274	neuromuscular synaptic transmission	http://purl.obolibrary.org/obo/GO_0007268	chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0007271	synaptic transmission, cholinergic	http://purl.obolibrary.org/obo/GO_0007268	chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0051932	synaptic transmission, GABAergic	http://purl.obolibrary.org/obo/GO_0007268	chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0035249	synaptic transmission, glutamatergic	http://purl.obolibrary.org/obo/GO_0007268	chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0098976	excitatory chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0007268	chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0008366	axon ensheathment	http://purl.obolibrary.org/obo/GO_0007272	ensheathment of neurons		
http://purl.obolibrary.org/obo/GO_0060084	synaptic transmission involved in micturition	http://purl.obolibrary.org/obo/GO_0007274	neuromuscular synaptic transmission		
http://purl.obolibrary.org/obo/GO_0007292	female gamete generation	http://purl.obolibrary.org/obo/GO_0007276	gamete generation		
http://purl.obolibrary.org/obo/GO_0048232	male gamete generation	http://purl.obolibrary.org/obo/GO_0007276	gamete generation		
http://purl.obolibrary.org/obo/GO_0048477	oogenesis	http://purl.obolibrary.org/obo/GO_0007292	female gamete generation		
http://purl.obolibrary.org/obo/GO_0007286	spermatid development	http://purl.obolibrary.org/obo/GO_0007281	germ cell development		
http://purl.obolibrary.org/obo/GO_0007088	regulation of mitotic nuclear division	http://purl.obolibrary.org/obo/GO_0051783	regulation of nuclear division		
http://purl.obolibrary.org/obo/GO_0045930	negative regulation of mitotic cell cycle	http://purl.obolibrary.org/obo/GO_0045786	negative regulation of cell cycle		
http://purl.obolibrary.org/obo/GO_0045931	positive regulation of mitotic cell cycle	http://purl.obolibrary.org/obo/GO_0045787	positive regulation of cell cycle		
http://purl.obolibrary.org/obo/GO_0046660	female sex differentiation	http://purl.obolibrary.org/obo/GO_0007548	sex differentiation		
http://purl.obolibrary.org/obo/GO_0031670	cellular response to nutrient	http://purl.obolibrary.org/obo/GO_0031669	cellular response to nutrient levels		
http://purl.obolibrary.org/obo/GO_0033273	response to vitamin	http://purl.obolibrary.org/obo/GO_0007584	response to nutrient		
http://purl.obolibrary.org/obo/GO_0030421	defecation	http://purl.obolibrary.org/obo/GO_0022600	digestive system process		
http://purl.obolibrary.org/obo/GO_0097254	renal tubular secretion	http://purl.obolibrary.org/obo/GO_0003014	renal system process		
http://purl.obolibrary.org/obo/GO_0060073	micturition	http://purl.obolibrary.org/obo/GO_0003014	renal system process		
http://purl.obolibrary.org/obo/GO_0007595	lactation	http://purl.obolibrary.org/obo/GO_0007589	body fluid secretion		
http://purl.obolibrary.org/obo/GO_0060156	milk ejection reflex	http://purl.obolibrary.org/obo/GO_0032941	secretion by tissue		
http://purl.obolibrary.org/obo/GO_0046541	saliva secretion	http://purl.obolibrary.org/obo/GO_0032941	secretion by tissue		
http://purl.obolibrary.org/obo/GO_0033326	cerebrospinal fluid secretion	http://purl.obolibrary.org/obo/GO_0032941	secretion by tissue		
http://purl.obolibrary.org/obo/GO_0070075	tear secretion	http://purl.obolibrary.org/obo/GO_0032941	secretion by tissue		
http://purl.obolibrary.org/obo/GO_0070254	mucus secretion	http://purl.obolibrary.org/obo/GO_0032941	secretion by tissue		
http://purl.obolibrary.org/obo/GO_0007596	blood coagulation	http://purl.obolibrary.org/obo/GO_0050817	coagulation		
http://purl.obolibrary.org/obo/GO_0007606	sensory perception of chemical stimulus	http://purl.obolibrary.org/obo/GO_0007600	sensory perception		
http://purl.obolibrary.org/obo/GO_0050953	sensory perception of light stimulus	http://purl.obolibrary.org/obo/GO_0007600	sensory perception		
http://purl.obolibrary.org/obo/GO_0050954	sensory perception of mechanical stimulus	http://purl.obolibrary.org/obo/GO_0007600	sensory perception		
http://purl.obolibrary.org/obo/GO_0050952	sensory perception of electrical stimulus	http://purl.obolibrary.org/obo/GO_0007600	sensory perception		
http://purl.obolibrary.org/obo/GO_0050957	equilibrioception	http://purl.obolibrary.org/obo/GO_0007600	sensory perception		
http://purl.obolibrary.org/obo/GO_0019230	proprioception	http://purl.obolibrary.org/obo/GO_0007600	sensory perception		
http://purl.obolibrary.org/obo/GO_0019233	sensory perception of pain	http://purl.obolibrary.org/obo/GO_0007600	sensory perception		
http://purl.obolibrary.org/obo/GO_0007608	sensory perception of smell	http://purl.obolibrary.org/obo/GO_0007606	sensory perception of chemical stimulus		
http://purl.obolibrary.org/obo/GO_0050909	sensory perception of taste	http://purl.obolibrary.org/obo/GO_0007606	sensory perception of chemical stimulus		
http://purl.obolibrary.org/obo/GO_0007613	memory	http://purl.obolibrary.org/obo/GO_0007611	learning or memory		
http://purl.obolibrary.org/obo/GO_0007620	copulation	http://purl.obolibrary.org/obo/GO_0007617	mating behavior		
http://purl.obolibrary.org/obo/GO_0048512	circadian behavior	http://purl.obolibrary.org/obo/GO_0007623	circadian rhythm		
http://purl.obolibrary.org/obo/GO_0006910	phagocytosis, recognition	http://purl.obolibrary.org/obo/GO_0008037	cell recognition		
http://purl.obolibrary.org/obo/GO_0004970	glutamate-gated receptor activity	http://purl.obolibrary.org/obo/GO_0015171	amino acid transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0033365	protein localization to organelle	http://purl.obolibrary.org/obo/GO_0008104	intracellular protein localization		
http://purl.obolibrary.org/obo/GO_0006091	generation of precursor metabolites and energy	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0006518	peptide metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0006793	phosphorus metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0018958	phenol-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0032259	methylation	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0033013	tetrapyrrole metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0042180	ketone metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0042430	indole-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0042558	pteridine-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0043170	macromolecule metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0044238	primary metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0044281	small molecule metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0072521	purine-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0072524	pyridine-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0072527	pyrimidine-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_1901135	carbohydrate derivative metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0001887	selenium compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0006413	translational initiation	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0006575	modified amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0006790	sulfur compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0052803	imidazole-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_1901334	lactone metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0009056	catabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0009308	amine metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0016999	antibiotic metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0042445	hormone metabolic process	http://purl.obolibrary.org/obo/GO_0010817	regulation of hormone levels		
http://purl.obolibrary.org/obo/GO_0042537	benzene-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0071941	nitrogen cycle metabolic process	http://purl.obolibrary.org/obo/GO_0008152	metabolic process		
http://purl.obolibrary.org/obo/GO_0006694	steroid biosynthetic process	http://purl.obolibrary.org/obo/GO_0008610	lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006706	steroid catabolic process	http://purl.obolibrary.org/obo/GO_0016042	lipid catabolic process		
http://purl.obolibrary.org/obo/GO_0008211	glucocorticoid metabolic process	http://purl.obolibrary.org/obo/GO_0008202	steroid metabolic process		
http://purl.obolibrary.org/obo/GO_0008212	mineralocorticoid metabolic process	http://purl.obolibrary.org/obo/GO_0042445	hormone metabolic process		
http://purl.obolibrary.org/obo/GO_0008206	bile acid metabolic process	http://purl.obolibrary.org/obo/GO_0032787	monocarboxylic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0042359	vitamin D metabolic process	http://purl.obolibrary.org/obo/GO_0008202	steroid metabolic process		
http://purl.obolibrary.org/obo/GO_0016125	sterol metabolic process	http://purl.obolibrary.org/obo/GO_0008202	steroid metabolic process		
http://purl.obolibrary.org/obo/GO_0006695	cholesterol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902653	secondary alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006707	cholesterol catabolic process	http://purl.obolibrary.org/obo/GO_0046164	alcohol catabolic process		
http://purl.obolibrary.org/obo/GO_0008585	female gonad development	http://purl.obolibrary.org/obo/GO_0008406	gonad development		
http://purl.obolibrary.org/obo/GO_0015108	chloride transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0008509	monoatomic anion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_1901570	fatty acid derivative biosynthetic process	http://purl.obolibrary.org/obo/GO_1901568	fatty acid derivative metabolic process		
http://purl.obolibrary.org/obo/GO_0006633	fatty acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0072330	monocarboxylic acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045017	glycerolipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046486	glycerolipid metabolic process		
http://purl.obolibrary.org/obo/GO_0008611	ether lipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046504	glycerol ether biosynthetic process		
http://purl.obolibrary.org/obo/GO_0034219	carbohydrate transmembrane transport	http://purl.obolibrary.org/obo/GO_0055085	transmembrane transport		
http://purl.obolibrary.org/obo/GO_0006119	oxidative phosphorylation	http://purl.obolibrary.org/obo/GO_0009060	aerobic respiration		
http://purl.obolibrary.org/obo/GO_0006558	L-phenylalanine metabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006570	tyrosine metabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006568	L-tryptophan metabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0009074	aromatic amino acid family catabolic process	http://purl.obolibrary.org/obo/GO_0046395	carboxylic acid catabolic process		
http://purl.obolibrary.org/obo/GO_0006551	L-leucine metabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006573	valine metabolic process	http://purl.obolibrary.org/obo/GO_1901605	alpha-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006029	proteoglycan metabolic process	http://purl.obolibrary.org/obo/GO_0009100	glycoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_0006517	protein deglycosylation	http://purl.obolibrary.org/obo/GO_0036211	protein modification process		
http://purl.obolibrary.org/obo/GO_0009101	glycoprotein biosynthetic process	http://purl.obolibrary.org/obo/GO_0009059	macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006487	protein N-linked glycosylation	http://purl.obolibrary.org/obo/GO_0009101	glycoprotein biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006493	protein O-linked glycosylation	http://purl.obolibrary.org/obo/GO_0009101	glycoprotein biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006144	purine nucleobase metabolic process	http://purl.obolibrary.org/obo/GO_0072521	purine-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0006206	pyrimidine nucleobase metabolic process	http://purl.obolibrary.org/obo/GO_0072527	pyrimidine-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0006163	purine nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0072521	purine-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0009165	nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_1901293	nucleoside phosphate biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009166	nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_1901292	nucleoside phosphate catabolic process		
http://purl.obolibrary.org/obo/GO_0046496	nicotinamide nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0072524	pyridine-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0009259	ribonucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0019693	ribose phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009134	nucleoside diphosphate catabolic process	http://purl.obolibrary.org/obo/GO_1901292	nucleoside phosphate catabolic process		
http://purl.obolibrary.org/obo/GO_0009135	purine nucleoside diphosphate metabolic process	http://purl.obolibrary.org/obo/GO_0009132	nucleoside diphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009185	ribonucleoside diphosphate metabolic process	http://purl.obolibrary.org/obo/GO_0009132	nucleoside diphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0006754	ATP biosynthetic process	http://purl.obolibrary.org/obo/GO_0046034	ATP metabolic process		
http://purl.obolibrary.org/obo/GO_0046032	ADP catabolic process	http://purl.obolibrary.org/obo/GO_0009181	purine ribonucleoside diphosphate catabolic process		
http://purl.obolibrary.org/obo/GO_0019363	pyridine nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0072525	pyridine-containing compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009260	ribonucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0009259	ribonucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0019364	pyridine nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_0072526	pyridine-containing compound catabolic process		
http://purl.obolibrary.org/obo/GO_0009261	ribonucleotide catabolic process	http://purl.obolibrary.org/obo/GO_0009259	ribonucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0005978	glycogen biosynthetic process	http://purl.obolibrary.org/obo/GO_0005977	glycogen metabolic process		
http://purl.obolibrary.org/obo/GO_0005980	glycogen catabolic process	http://purl.obolibrary.org/obo/GO_0005977	glycogen metabolic process		
http://purl.obolibrary.org/obo/GO_0005984	disaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0009311	oligosaccharide metabolic process		
http://purl.obolibrary.org/obo/GO_0007632	visual behavior	http://purl.obolibrary.org/obo/GO_0007610	behavior		
http://purl.obolibrary.org/obo/GO_0009583	detection of light stimulus	http://purl.obolibrary.org/obo/GO_0009582	detection of abiotic stimulus		
http://purl.obolibrary.org/obo/GO_0009411	response to UV	http://purl.obolibrary.org/obo/GO_0009416	response to light stimulus		
http://purl.obolibrary.org/obo/GO_0071482	cellular response to light stimulus	http://purl.obolibrary.org/obo/GO_0071478	cellular response to radiation		
http://purl.obolibrary.org/obo/GO_0009584	detection of visible light	http://purl.obolibrary.org/obo/GO_0009583	detection of light stimulus		
http://purl.obolibrary.org/obo/GO_0050962	detection of light stimulus involved in sensory perception	http://purl.obolibrary.org/obo/GO_0050906	detection of stimulus involved in sensory perception		
http://purl.obolibrary.org/obo/GO_0050982	detection of mechanical stimulus	http://purl.obolibrary.org/obo/GO_0009582	detection of abiotic stimulus		
http://purl.obolibrary.org/obo/GO_0009612	response to mechanical stimulus	http://purl.obolibrary.org/obo/GO_0009605	response to external stimulus		
http://purl.obolibrary.org/obo/GO_0070482	response to oxygen levels	http://purl.obolibrary.org/obo/GO_0009628	response to abiotic stimulus		
http://purl.obolibrary.org/obo/GO_0009314	response to radiation	http://purl.obolibrary.org/obo/GO_0009628	response to abiotic stimulus		
http://purl.obolibrary.org/obo/GO_0009582	detection of abiotic stimulus	http://purl.obolibrary.org/obo/GO_0051606	detection of stimulus		
http://purl.obolibrary.org/obo/GO_0051602	response to electrical stimulus	http://purl.obolibrary.org/obo/GO_0009628	response to abiotic stimulus		
http://purl.obolibrary.org/obo/GO_0071214	cellular response to abiotic stimulus	http://purl.obolibrary.org/obo/GO_0104004	cellular response to environmental stimulus		
http://purl.obolibrary.org/obo/GO_0006584	catecholamine metabolic process	http://purl.obolibrary.org/obo/GO_0006576	biogenic amine metabolic process		
http://purl.obolibrary.org/obo/GO_0009713	catechol-containing compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0046189	phenol-containing compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0099024	plasma membrane invagination	http://purl.obolibrary.org/obo/GO_0010324	membrane invagination		
http://purl.obolibrary.org/obo/GO_2000272	negative regulation of signaling receptor activity	http://purl.obolibrary.org/obo/GO_0044092	negative regulation of molecular function		
http://purl.obolibrary.org/obo/GO_0099601	regulation of neurotransmitter receptor activity	http://purl.obolibrary.org/obo/GO_0010469	regulation of signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0060300	regulation of cytokine activity	http://purl.obolibrary.org/obo/GO_0010469	regulation of signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0040020	regulation of meiotic nuclear division	http://purl.obolibrary.org/obo/GO_0051445	regulation of meiotic cell cycle		
http://purl.obolibrary.org/obo/GO_0051983	regulation of chromosome segregation	http://purl.obolibrary.org/obo/GO_0010564	regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_1903379	regulation of mitotic chromosome condensation	http://purl.obolibrary.org/obo/GO_0060623	regulation of chromosome condensation		
http://purl.obolibrary.org/obo/GO_0010948	negative regulation of cell cycle process	http://purl.obolibrary.org/obo/GO_0045786	negative regulation of cell cycle		
http://purl.obolibrary.org/obo/GO_0090068	positive regulation of cell cycle process	http://purl.obolibrary.org/obo/GO_0045787	positive regulation of cell cycle		
http://purl.obolibrary.org/obo/GO_0010566	regulation of ketone biosynthetic process	http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0019217	regulation of fatty acid metabolic process	http://purl.obolibrary.org/obo/GO_0019216	regulation of lipid metabolic process		
http://purl.obolibrary.org/obo/GO_2000082	regulation of L-ascorbic acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0030656	regulation of vitamin metabolic process		
http://purl.obolibrary.org/obo/GO_0070857	regulation of bile acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0050810	regulation of steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_2000064	regulation of cortisol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902930	regulation of alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_2000224	regulation of testosterone biosynthetic process	http://purl.obolibrary.org/obo/GO_0050810	regulation of steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010795	regulation of ubiquinone biosynthetic process	http://purl.obolibrary.org/obo/GO_0010566	regulation of ketone biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006417	regulation of translation	http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0001818	negative regulation of cytokine production	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0002701	negative regulation of production of molecular mediator of immune response	http://purl.obolibrary.org/obo/GO_0002700	regulation of production of molecular mediator of immune response		
http://purl.obolibrary.org/obo/GO_0033119	negative regulation of RNA splicing	http://purl.obolibrary.org/obo/GO_0043484	regulation of RNA splicing		
http://purl.obolibrary.org/obo/GO_1903318	negative regulation of protein maturation	http://purl.obolibrary.org/obo/GO_1903317	regulation of protein maturation		
http://purl.obolibrary.org/obo/GO_0006111	regulation of gluconeogenesis	http://purl.obolibrary.org/obo/GO_0043255	regulation of carbohydrate biosynthetic process		
http://purl.obolibrary.org/obo/GO_1900004	negative regulation of serine-type endopeptidase activity	http://purl.obolibrary.org/obo/GO_1902572	negative regulation of serine-type peptidase activity		
http://purl.obolibrary.org/obo/GO_0005979	regulation of glycogen biosynthetic process	http://purl.obolibrary.org/obo/GO_0070873	regulation of glycogen metabolic process		
http://purl.obolibrary.org/obo/GO_0042073	intraciliary transport	http://purl.obolibrary.org/obo/GO_0010970	transport along microtubule		
http://purl.obolibrary.org/obo/GO_0098840	protein transport along microtubule	http://purl.obolibrary.org/obo/GO_0099118	microtubule-based protein transport		
http://purl.obolibrary.org/obo/GO_0006886	intracellular protein transport	http://purl.obolibrary.org/obo/GO_0046907	intracellular transport		
http://purl.obolibrary.org/obo/GO_0009306	protein secretion	http://purl.obolibrary.org/obo/GO_0071692	protein localization to extracellular region		
http://purl.obolibrary.org/obo/GO_0099118	microtubule-based protein transport	http://purl.obolibrary.org/obo/GO_0099111	microtubule-based transport		
http://purl.obolibrary.org/obo/GO_0005216	monoatomic ion channel activity	http://purl.obolibrary.org/obo/GO_0015267	channel activity		
http://purl.obolibrary.org/obo/GO_0008509	monoatomic anion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015075	monoatomic ion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0008324	monoatomic cation transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015075	monoatomic ion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0022853	active monoatomic ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015399	primary active transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0055056	D-glucose transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015149	hexose transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0005230	extracellular ligand-gated monoatomic ion channel activity	http://purl.obolibrary.org/obo/GO_0015276	ligand-gated monoatomic ion channel activity		
http://purl.obolibrary.org/obo/GO_0015721	bile acid and bile salt transport	http://purl.obolibrary.org/obo/GO_0006869	lipid transport		
http://purl.obolibrary.org/obo/GO_0032782	bile acid secretion	http://purl.obolibrary.org/obo/GO_0046717	acid secretion		
http://purl.obolibrary.org/obo/GO_0006837	serotonin transport	http://purl.obolibrary.org/obo/GO_0015850	organic hydroxy compound transport		
http://purl.obolibrary.org/obo/GO_0051937	catecholamine transport	http://purl.obolibrary.org/obo/GO_0015850	organic hydroxy compound transport		
http://purl.obolibrary.org/obo/GO_0035932	aldosterone secretion	http://purl.obolibrary.org/obo/GO_0035931	mineralocorticoid secretion		
http://purl.obolibrary.org/obo/GO_0035936	testosterone secretion	http://purl.obolibrary.org/obo/GO_0140353	lipid export from cell		
http://purl.obolibrary.org/obo/GO_0043400	cortisol secretion	http://purl.obolibrary.org/obo/GO_0035933	glucocorticoid secretion		
http://purl.obolibrary.org/obo/GO_0004559	alpha-mannosidase activity	http://purl.obolibrary.org/obo/GO_0015923	mannosidase activity		
http://purl.obolibrary.org/obo/GO_0004557	alpha-galactosidase activity	http://purl.obolibrary.org/obo/GO_0015925	galactosidase activity		
http://purl.obolibrary.org/obo/GO_0004565	beta-galactosidase activity	http://purl.obolibrary.org/obo/GO_0015925	galactosidase activity		
http://purl.obolibrary.org/obo/GO_0004555	alpha,alpha-trehalase activity	http://purl.obolibrary.org/obo/GO_0015927	trehalase activity		
http://purl.obolibrary.org/obo/GO_0006112	energy reserve metabolic process	http://purl.obolibrary.org/obo/GO_0015980	energy derivation by oxidation of organic compounds		
http://purl.obolibrary.org/obo/GO_0045333	cellular respiration	http://purl.obolibrary.org/obo/GO_0015980	energy derivation by oxidation of organic compounds		
http://purl.obolibrary.org/obo/GO_0042776	proton motive force-driven mitochondrial ATP synthesis	http://purl.obolibrary.org/obo/GO_0015986	proton motive force-driven ATP synthesis		
http://purl.obolibrary.org/obo/GO_0005886	plasma membrane	http://purl.obolibrary.org/obo/GO_0016020	membrane		
http://purl.obolibrary.org/obo/GO_0098857	membrane microdomain	http://purl.obolibrary.org/obo/GO_0016020	membrane		
http://purl.obolibrary.org/obo/GO_0031090	organelle membrane	http://purl.obolibrary.org/obo/GO_0016020	membrane		
http://purl.obolibrary.org/obo/GO_0098590	plasma membrane region	http://purl.obolibrary.org/obo/GO_0016020	membrane		
http://purl.obolibrary.org/obo/GO_1901569	fatty acid derivative catabolic process	http://purl.obolibrary.org/obo/GO_1901568	fatty acid derivative metabolic process		
http://purl.obolibrary.org/obo/GO_0006996	organelle organization	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0010256	endomembrane system organization	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0022411	cellular component disassembly	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0061024	membrane organization	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0022607	cellular component assembly	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0032989	cellular anatomical entity morphogenesis	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0043933	protein-containing complex organization	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0030030	cell projection organization	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0031023	microtubule organizing center organization	http://purl.obolibrary.org/obo/GO_0007017	microtubule-based process		
http://purl.obolibrary.org/obo/GO_0043062	extracellular structure organization	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0045229	external encapsulating structure organization	http://purl.obolibrary.org/obo/GO_0016043	cellular component organization		
http://purl.obolibrary.org/obo/GO_0006887	exocytosis	http://purl.obolibrary.org/obo/GO_0032940	secretion by cell		
http://purl.obolibrary.org/obo/GO_0006897	endocytosis	http://purl.obolibrary.org/obo/GO_0098657	import into cell		
http://purl.obolibrary.org/obo/GO_0048193	Golgi vesicle transport	http://purl.obolibrary.org/obo/GO_0016192	vesicle-mediated transport		
http://purl.obolibrary.org/obo/GO_0099003	vesicle-mediated transport in synapse	http://purl.obolibrary.org/obo/GO_0016192	vesicle-mediated transport		
http://purl.obolibrary.org/obo/GO_0006468	protein phosphorylation	http://purl.obolibrary.org/obo/GO_0036211	protein modification process		
http://purl.obolibrary.org/obo/GO_0008080	N-acetyltransferase activity	http://purl.obolibrary.org/obo/GO_0016410	N-acyltransferase activity		
http://purl.obolibrary.org/obo/GO_0016413	O-acetyltransferase activity	http://purl.obolibrary.org/obo/GO_0008374	O-acyltransferase activity		
http://purl.obolibrary.org/obo/GO_0004758	serine C-palmitoyltransferase activity	http://purl.obolibrary.org/obo/GO_0016454	C-palmitoyltransferase activity		
http://purl.obolibrary.org/obo/GO_0016646	oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor	http://purl.obolibrary.org/obo/GO_0016645	oxidoreductase activity, acting on the CH-NH group of donors		
http://purl.obolibrary.org/obo/GO_0046997	oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor	http://purl.obolibrary.org/obo/GO_0016645	oxidoreductase activity, acting on the CH-NH group of donors		
http://purl.obolibrary.org/obo/GO_0004601	peroxidase activity	http://purl.obolibrary.org/obo/GO_0016209	antioxidant activity		
http://purl.obolibrary.org/obo/GO_0008168	methyltransferase activity	http://purl.obolibrary.org/obo/GO_0016741	transferase activity, transferring one-carbon groups		
http://purl.obolibrary.org/obo/GO_0015067	amidinotransferase activity	http://purl.obolibrary.org/obo/GO_0016741	transferase activity, transferring one-carbon groups		
http://purl.obolibrary.org/obo/GO_0042578	phosphoric ester hydrolase activity	http://purl.obolibrary.org/obo/GO_0016788	hydrolase activity, acting on ester bonds		
http://purl.obolibrary.org/obo/GO_0008484	sulfuric ester hydrolase activity	http://purl.obolibrary.org/obo/GO_0016788	hydrolase activity, acting on ester bonds		
http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	http://purl.obolibrary.org/obo/GO_0016798	hydrolase activity, acting on glycosyl bonds		
http://purl.obolibrary.org/obo/GO_0016861	intramolecular oxidoreductase activity, interconverting aldoses and ketoses	http://purl.obolibrary.org/obo/GO_0016860	intramolecular oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016421	CoA carboxylase activity	http://purl.obolibrary.org/obo/GO_0016885	ligase activity, forming carbon-carbon bonds		
http://purl.obolibrary.org/obo/GO_0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	http://purl.obolibrary.org/obo/GO_0016903	oxidoreductase activity, acting on the aldehyde or oxo group of donors		
http://purl.obolibrary.org/obo/GO_0032055	negative regulation of translation in response to stress	http://purl.obolibrary.org/obo/GO_0043555	regulation of translation in response to stress		
http://purl.obolibrary.org/obo/GO_2000766	negative regulation of cytoplasmic translation	http://purl.obolibrary.org/obo/GO_2000765	regulation of cytoplasmic translation		
http://purl.obolibrary.org/obo/GO_0070130	negative regulation of mitochondrial translation	http://purl.obolibrary.org/obo/GO_0070129	regulation of mitochondrial translation		
http://purl.obolibrary.org/obo/GO_0009712	catechol-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0018958	phenol-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0042403	thyroid hormone metabolic process	http://purl.obolibrary.org/obo/GO_0042445	hormone metabolic process		
http://purl.obolibrary.org/obo/GO_0046189	phenol-containing compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0007617	mating behavior	http://purl.obolibrary.org/obo/GO_0019098	reproductive behavior		
http://purl.obolibrary.org/obo/GO_0050308	sugar-phosphatase activity	http://purl.obolibrary.org/obo/GO_0019203	carbohydrate phosphatase activity		
http://purl.obolibrary.org/obo/GO_0004860	protein kinase inhibitor activity	http://purl.obolibrary.org/obo/GO_0019887	protein kinase regulator activity		
http://purl.obolibrary.org/obo/GO_0046320	regulation of fatty acid oxidation	http://purl.obolibrary.org/obo/GO_0019217	regulation of fatty acid metabolic process		
http://purl.obolibrary.org/obo/GO_0042304	regulation of fatty acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046890	regulation of lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0031943	regulation of glucocorticoid metabolic process	http://purl.obolibrary.org/obo/GO_0032350	regulation of hormone metabolic process		
http://purl.obolibrary.org/obo/GO_0090181	regulation of cholesterol metabolic process	http://purl.obolibrary.org/obo/GO_0062012	regulation of small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0045939	negative regulation of steroid metabolic process	http://purl.obolibrary.org/obo/GO_0045833	negative regulation of lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0045940	positive regulation of steroid metabolic process	http://purl.obolibrary.org/obo/GO_0045834	positive regulation of lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0050810	regulation of steroid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046890	regulation of lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006140	regulation of nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0051174	regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0006141	regulation of purine nucleobase metabolic process	http://purl.obolibrary.org/obo/GO_0062012	regulation of small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0051052	regulation of DNA metabolic process	http://purl.obolibrary.org/obo/GO_0060255	regulation of macromolecule metabolic process		
http://purl.obolibrary.org/obo/GO_0051252	regulation of RNA metabolic process	http://purl.obolibrary.org/obo/GO_0060255	regulation of macromolecule metabolic process		
http://purl.obolibrary.org/obo/GO_0045934	negative regulation of nucleobase-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0006000	fructose metabolic process	http://purl.obolibrary.org/obo/GO_0019318	hexose metabolic process		
http://purl.obolibrary.org/obo/GO_0006006	glucose metabolic process	http://purl.obolibrary.org/obo/GO_0019318	hexose metabolic process		
http://purl.obolibrary.org/obo/GO_0006012	galactose metabolic process	http://purl.obolibrary.org/obo/GO_0019318	hexose metabolic process		
http://purl.obolibrary.org/obo/GO_0019319	hexose biosynthetic process	http://purl.obolibrary.org/obo/GO_0046364	monosaccharide biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009100	glycoprotein metabolic process	http://purl.obolibrary.org/obo/GO_1901135	carbohydrate derivative metabolic process		
http://purl.obolibrary.org/obo/GO_0036211	protein modification process	http://purl.obolibrary.org/obo/GO_0043412	macromolecule modification		
http://purl.obolibrary.org/obo/GO_0051604	protein maturation	http://purl.obolibrary.org/obo/GO_0019538	protein metabolic process		
http://purl.obolibrary.org/obo/GO_0006412	translation	http://purl.obolibrary.org/obo/GO_0009059	macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006508	proteolysis	http://purl.obolibrary.org/obo/GO_0019538	protein metabolic process		
http://purl.obolibrary.org/obo/GO_0042157	lipoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0019538	protein metabolic process		
http://purl.obolibrary.org/obo/GO_0160307	protein biosynthetic process	http://purl.obolibrary.org/obo/GO_0009059	macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0090407	organophosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0046434	organophosphate catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0046390	ribose phosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_1901137	carbohydrate derivative biosynthetic process		
http://purl.obolibrary.org/obo/GO_0055082	intracellular chemical homeostasis	http://purl.obolibrary.org/obo/GO_0048878	chemical homeostasis		
http://purl.obolibrary.org/obo/GO_1901738	regulation of vitamin A metabolic process	http://purl.obolibrary.org/obo/GO_0019747	regulation of isoprenoid metabolic process		
http://purl.obolibrary.org/obo/GO_0045827	negative regulation of isoprenoid metabolic process	http://purl.obolibrary.org/obo/GO_0045833	negative regulation of lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0034311	diol metabolic process	http://purl.obolibrary.org/obo/GO_0019751	polyol metabolic process		
http://purl.obolibrary.org/obo/GO_0046173	polyol biosynthetic process	http://purl.obolibrary.org/obo/GO_0046165	alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009072	aromatic amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0006520	amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0009081	branched-chain amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0006520	amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0032787	monocarboxylic acid metabolic process	http://purl.obolibrary.org/obo/GO_0019752	carboxylic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0043648	dicarboxylic acid metabolic process	http://purl.obolibrary.org/obo/GO_0019752	carboxylic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0000096	sulfur amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0006790	sulfur compound metabolic process		
http://purl.obolibrary.org/obo/GO_0046394	carboxylic acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0016053	organic acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0072350	tricarboxylic acid metabolic process	http://purl.obolibrary.org/obo/GO_0019752	carboxylic acid metabolic process		
http://purl.obolibrary.org/obo/GO_1901605	alpha-amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0006520	amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0046395	carboxylic acid catabolic process	http://purl.obolibrary.org/obo/GO_0016054	organic acid catabolic process		
http://purl.obolibrary.org/obo/GO_0170039	proteinogenic amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0006520	amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0170041	non-proteinogenic amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0006520	amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0005743	mitochondrial inner membrane	http://purl.obolibrary.org/obo/GO_0031966	mitochondrial membrane		
http://purl.obolibrary.org/obo/GO_0030295	protein kinase activator activity	http://purl.obolibrary.org/obo/GO_0019209	kinase activator activity		
http://purl.obolibrary.org/obo/GO_0008607	phosphorylase kinase regulator activity	http://purl.obolibrary.org/obo/GO_0019887	protein kinase regulator activity		
http://purl.obolibrary.org/obo/GO_0019901	protein kinase binding	http://purl.obolibrary.org/obo/GO_0019900	kinase binding		
http://purl.obolibrary.org/obo/GO_0071695	anatomical structure maturation	http://purl.obolibrary.org/obo/GO_0021700	developmental maturation		
http://purl.obolibrary.org/obo/GO_0022405	hair cycle process	http://purl.obolibrary.org/obo/GO_0022404	molting cycle process		
http://purl.obolibrary.org/obo/GO_0006921	cellular component disassembly involved in execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_0022411	cellular component disassembly		
http://purl.obolibrary.org/obo/GO_0032984	protein-containing complex disassembly	http://purl.obolibrary.org/obo/GO_0043933	protein-containing complex organization		
http://purl.obolibrary.org/obo/GO_1904315	transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	http://purl.obolibrary.org/obo/GO_0022824	transmitter-gated monoatomic ion channel activity		
http://purl.obolibrary.org/obo/GO_0005243	gap junction channel activity	http://purl.obolibrary.org/obo/GO_0022829	wide pore channel activity		
http://purl.obolibrary.org/obo/GO_0015075	monoatomic ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0046943	carboxylic acid transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_1901505	carbohydrate derivative transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015171	amino acid transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015605	organophosphate ester transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015106	bicarbonate transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015144	carbohydrate transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0022803	passive transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0022804	active transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0090482	vitamin transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_1901702	salt transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022857	transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0006874	intracellular calcium ion homeostasis	http://purl.obolibrary.org/obo/GO_0055074	calcium ion homeostasis		
http://purl.obolibrary.org/obo/GO_0006878	intracellular copper ion homeostasis	http://purl.obolibrary.org/obo/GO_0055070	copper ion homeostasis		
http://purl.obolibrary.org/obo/GO_0006879	intracellular iron ion homeostasis	http://purl.obolibrary.org/obo/GO_0098771	inorganic ion homeostasis		
http://purl.obolibrary.org/obo/GO_0070161	anchoring junction	http://purl.obolibrary.org/obo/GO_0030054	cell junction		
http://purl.obolibrary.org/obo/GO_0045202	synapse	http://purl.obolibrary.org/obo/GO_0030054	cell junction		
http://purl.obolibrary.org/obo/GO_0004857	enzyme inhibitor activity	http://purl.obolibrary.org/obo/GO_0140678	molecular function inhibitor activity		
http://purl.obolibrary.org/obo/GO_0008047	enzyme activator activity	http://purl.obolibrary.org/obo/GO_0140677	molecular function activator activity		
http://purl.obolibrary.org/obo/GO_0019208	phosphatase regulator activity	http://purl.obolibrary.org/obo/GO_0030234	enzyme regulator activity		
http://purl.obolibrary.org/obo/GO_0060589	nucleoside-triphosphatase regulator activity	http://purl.obolibrary.org/obo/GO_0030234	enzyme regulator activity		
http://purl.obolibrary.org/obo/GO_0019207	kinase regulator activity	http://purl.obolibrary.org/obo/GO_0030234	enzyme regulator activity		
http://purl.obolibrary.org/obo/GO_0061134	peptidase regulator activity	http://purl.obolibrary.org/obo/GO_0030234	enzyme regulator activity		
http://purl.obolibrary.org/obo/GO_0055103	ligase regulator activity	http://purl.obolibrary.org/obo/GO_0030234	enzyme regulator activity		
http://purl.obolibrary.org/obo/GO_0005858	axonemal dynein complex	http://purl.obolibrary.org/obo/GO_0030286	dynein complex		
http://purl.obolibrary.org/obo/GO_0031012	extracellular matrix	http://purl.obolibrary.org/obo/GO_0030312	external encapsulating structure		
http://purl.obolibrary.org/obo/GO_0140139	solid phase of basement membrane	http://purl.obolibrary.org/obo/GO_0030312	external encapsulating structure		
http://purl.obolibrary.org/obo/GO_0140143	collagenous component of basement membrane	http://purl.obolibrary.org/obo/GO_0030312	external encapsulating structure		
http://purl.obolibrary.org/obo/GO_0140149	non-collagenous component of interstitial matrix	http://purl.obolibrary.org/obo/GO_0030312	external encapsulating structure		
http://purl.obolibrary.org/obo/GO_0140151	solid phase of interstitial matrix	http://purl.obolibrary.org/obo/GO_0030312	external encapsulating structure		
http://purl.obolibrary.org/obo/GO_0140152	collagenous component of interstitial matrix	http://purl.obolibrary.org/obo/GO_0030312	external encapsulating structure		
http://purl.obolibrary.org/obo/GO_0004866	endopeptidase inhibitor activity	http://purl.obolibrary.org/obo/GO_0061135	endopeptidase regulator activity		
http://purl.obolibrary.org/obo/GO_0022835	transmitter-gated channel activity	http://purl.obolibrary.org/obo/GO_0022834	ligand-gated channel activity		
http://purl.obolibrary.org/obo/GO_0098960	postsynaptic neurotransmitter receptor activity	http://purl.obolibrary.org/obo/GO_0030594	neurotransmitter receptor activity		
http://purl.obolibrary.org/obo/GO_0005604	basement membrane	http://purl.obolibrary.org/obo/GO_0031012	extracellular matrix		
http://purl.obolibrary.org/obo/GO_0005614	interstitial matrix	http://purl.obolibrary.org/obo/GO_0031012	extracellular matrix		
http://purl.obolibrary.org/obo/UBERON_4000020	mineralized extracellular matrix	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/GO_0140086	basement membrane/interstitial matrix interface	http://purl.obolibrary.org/obo/GO_0031012	extracellular matrix		
http://purl.obolibrary.org/obo/GO_0010977	negative regulation of neuron projection development	http://purl.obolibrary.org/obo/GO_0010975	regulation of neuron projection development		
http://purl.obolibrary.org/obo/GO_0120033	negative regulation of plasma membrane bounded cell projection assembly	http://purl.obolibrary.org/obo/GO_0120032	regulation of plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_0016595	glutamate binding	http://purl.obolibrary.org/obo/GO_0016597	amino acid binding		
http://purl.obolibrary.org/obo/GO_0005635	nuclear envelope	http://purl.obolibrary.org/obo/GO_0031967	organelle envelope		
http://purl.obolibrary.org/obo/GO_0005740	mitochondrial envelope	http://purl.obolibrary.org/obo/GO_0031967	organelle envelope		
http://purl.obolibrary.org/obo/GO_0043233	organelle lumen	http://purl.obolibrary.org/obo/GO_0031974	membrane-enclosed lumen		
http://purl.obolibrary.org/obo/GO_0043504	mitochondrial DNA repair	http://purl.obolibrary.org/obo/GO_0006281	DNA repair		
http://purl.obolibrary.org/obo/GO_1905951	mitochondrion DNA recombination	http://purl.obolibrary.org/obo/GO_0006310	DNA recombination		
http://purl.obolibrary.org/obo/GO_0046885	regulation of hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0032351	negative regulation of hormone metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0032352	positive regulation of hormone metabolic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_2000609	regulation of thyroid hormone generation	http://purl.obolibrary.org/obo/GO_0032350	regulation of hormone metabolic process		
http://purl.obolibrary.org/obo/GO_2000831	regulation of steroid hormone secretion	http://purl.obolibrary.org/obo/GO_0046883	regulation of hormone secretion		
http://purl.obolibrary.org/obo/GO_0032369	negative regulation of lipid transport	http://purl.obolibrary.org/obo/GO_1905953	negative regulation of lipid localization		
http://purl.obolibrary.org/obo/GO_0032370	positive regulation of lipid transport	http://purl.obolibrary.org/obo/GO_1905954	positive regulation of lipid localization		
http://purl.obolibrary.org/obo/GO_2000843	regulation of testosterone secretion	http://purl.obolibrary.org/obo/GO_0046883	regulation of hormone secretion		
http://purl.obolibrary.org/obo/GO_0006090	pyruvate metabolic process	http://purl.obolibrary.org/obo/GO_0032787	monocarboxylic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006600	creatine metabolic process	http://purl.obolibrary.org/obo/GO_0006575	modified amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006768	biotin metabolic process	http://purl.obolibrary.org/obo/GO_0006790	sulfur compound metabolic process		
http://purl.obolibrary.org/obo/GO_0072329	monocarboxylic acid catabolic process	http://purl.obolibrary.org/obo/GO_0046395	carboxylic acid catabolic process		
http://purl.obolibrary.org/obo/GO_0072330	monocarboxylic acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046394	carboxylic acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009448	GABA metabolic process	http://purl.obolibrary.org/obo/GO_0170041	non-proteinogenic amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006778	porphyrin-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0033013	tetrapyrrole metabolic process		
http://purl.obolibrary.org/obo/GO_0009235	cobalamin metabolic process	http://purl.obolibrary.org/obo/GO_0033013	tetrapyrrole metabolic process		
http://purl.obolibrary.org/obo/GO_0008104	intracellular protein localization	http://purl.obolibrary.org/obo/GO_0033036	macromolecule localization		
http://purl.obolibrary.org/obo/GO_0010876	lipid localization	http://purl.obolibrary.org/obo/GO_0033036	macromolecule localization		
http://purl.obolibrary.org/obo/GO_0031503	protein-containing complex localization	http://purl.obolibrary.org/obo/GO_0033036	macromolecule localization		
http://purl.obolibrary.org/obo/GO_0071692	protein localization to extracellular region	http://purl.obolibrary.org/obo/GO_0033036	macromolecule localization		
http://purl.obolibrary.org/obo/GO_0033046	negative regulation of sister chromatid segregation	http://purl.obolibrary.org/obo/GO_2001251	negative regulation of chromosome organization		
http://purl.obolibrary.org/obo/GO_0033047	regulation of mitotic sister chromatid segregation	http://purl.obolibrary.org/obo/GO_0033045	regulation of sister chromatid segregation		
http://purl.obolibrary.org/obo/GO_0033239	negative regulation of amine metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0033240	positive regulation of amine metabolic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0042069	regulation of catecholamine metabolic process	http://purl.obolibrary.org/obo/GO_0080090	regulation of primary metabolic process		
http://purl.obolibrary.org/obo/GO_0006469	negative regulation of protein kinase activity	http://purl.obolibrary.org/obo/GO_0001933	negative regulation of protein phosphorylation		
http://purl.obolibrary.org/obo/GO_0034309	primary alcohol biosynthetic process	http://purl.obolibrary.org/obo/GO_0046165	alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0046146	tetrahydrobiopterin metabolic process	http://purl.obolibrary.org/obo/GO_0042558	pteridine-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0070914	UV-damage excision repair	http://purl.obolibrary.org/obo/GO_0006281	DNA repair		
http://purl.obolibrary.org/obo/GO_0034703	cation channel complex	http://purl.obolibrary.org/obo/GO_0034702	monoatomic ion channel complex		
http://purl.obolibrary.org/obo/GO_0034766	negative regulation of monoatomic ion transmembrane transport	http://purl.obolibrary.org/obo/GO_0043271	negative regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0034767	positive regulation of monoatomic ion transmembrane transport	http://purl.obolibrary.org/obo/GO_0043270	positive regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_1903959	regulation of monoatomic anion transmembrane transport	http://purl.obolibrary.org/obo/GO_0044070	regulation of monoatomic anion transport		
http://purl.obolibrary.org/obo/GO_1904062	regulation of monoatomic cation transmembrane transport	http://purl.obolibrary.org/obo/GO_0034765	regulation of monoatomic ion transmembrane transport		
http://purl.obolibrary.org/obo/GO_0007288	sperm axoneme assembly	http://purl.obolibrary.org/obo/GO_0003006	developmental process involved in reproduction		
http://purl.obolibrary.org/obo/GO_0048514	blood vessel morphogenesis	http://purl.obolibrary.org/obo/GO_0035239	tube morphogenesis		
http://purl.obolibrary.org/obo/GO_0048754	branching morphogenesis of an epithelial tube	http://purl.obolibrary.org/obo/GO_0061138	morphogenesis of a branching epithelium		
http://purl.obolibrary.org/obo/GO_0060562	epithelial tube morphogenesis	http://purl.obolibrary.org/obo/GO_0002009	morphogenesis of an epithelium		
http://purl.obolibrary.org/obo/GO_0048565	digestive tract development	http://purl.obolibrary.org/obo/GO_0035295	tube development		
http://purl.obolibrary.org/obo/GO_0021915	neural tube development	http://purl.obolibrary.org/obo/GO_0060429	epithelium development		
http://purl.obolibrary.org/obo/GO_0006497	protein lipidation	http://purl.obolibrary.org/obo/GO_0036211	protein modification process		
http://purl.obolibrary.org/obo/GO_0018215	protein phosphopantetheinylation	http://purl.obolibrary.org/obo/GO_0036211	protein modification process		
http://purl.obolibrary.org/obo/GO_0006833	water transport	http://purl.obolibrary.org/obo/GO_0042044	fluid transport		
http://purl.obolibrary.org/obo/GO_0042181	ketone biosynthetic process	http://purl.obolibrary.org/obo/GO_0044283	small molecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_1901661	quinone metabolic process	http://purl.obolibrary.org/obo/GO_0042180	ketone metabolic process		
http://purl.obolibrary.org/obo/GO_1901663	quinone biosynthetic process	http://purl.obolibrary.org/obo/GO_1901661	quinone metabolic process		
http://purl.obolibrary.org/obo/GO_0042633	hair cycle	http://purl.obolibrary.org/obo/GO_0042303	molting cycle		
http://purl.obolibrary.org/obo/GO_0006590	thyroid hormone generation	http://purl.obolibrary.org/obo/GO_0042403	thyroid hormone metabolic process		
http://purl.obolibrary.org/obo/GO_0030186	melatonin metabolic process	http://purl.obolibrary.org/obo/GO_0042445	hormone metabolic process		
http://purl.obolibrary.org/obo/GO_0042435	indole-containing compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0030187	melatonin biosynthetic process	http://purl.obolibrary.org/obo/GO_0042435	indole-containing compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006760	folic acid-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0006575	modified amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0019889	pteridine metabolic process	http://purl.obolibrary.org/obo/GO_0042558	pteridine-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0005497	androgen binding	http://purl.obolibrary.org/obo/GO_0042562	hormone binding		
http://purl.obolibrary.org/obo/GO_0070324	thyroid hormone binding	http://purl.obolibrary.org/obo/GO_0042562	hormone binding		
http://purl.obolibrary.org/obo/GO_0016791	phosphatase activity	http://purl.obolibrary.org/obo/GO_0042578	phosphoric ester hydrolase activity		
http://purl.obolibrary.org/obo/GO_0005777	peroxisome	http://purl.obolibrary.org/obo/GO_0042579	microbody		
http://purl.obolibrary.org/obo/GO_0030424	axon	http://purl.obolibrary.org/obo/GO_0043005	neuron projection		
http://purl.obolibrary.org/obo/GO_0030425	dendrite	http://purl.obolibrary.org/obo/GO_0043005	neuron projection		
http://purl.obolibrary.org/obo/GO_0097447	dendritic tree	http://purl.obolibrary.org/obo/GO_0043005	neuron projection		
http://purl.obolibrary.org/obo/GO_1904746	negative regulation of apoptotic process involved in development	http://purl.obolibrary.org/obo/GO_1904748	regulation of apoptotic process involved in development		
http://purl.obolibrary.org/obo/GO_1900118	negative regulation of execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_1900117	regulation of execution phase of apoptosis		
http://purl.obolibrary.org/obo/GO_2001234	negative regulation of apoptotic signaling pathway	http://purl.obolibrary.org/obo/GO_2001233	regulation of apoptotic signaling pathway		
http://purl.obolibrary.org/obo/GO_1904222	positive regulation of serine C-palmitoyltransferase activity	http://purl.obolibrary.org/obo/GO_0051338	regulation of transferase activity		
http://purl.obolibrary.org/obo/GO_0033674	positive regulation of kinase activity	http://purl.obolibrary.org/obo/GO_0043549	regulation of kinase activity		
http://purl.obolibrary.org/obo/GO_0051349	positive regulation of lyase activity	http://purl.obolibrary.org/obo/GO_0043085	positive regulation of catalytic activity		
http://purl.obolibrary.org/obo/GO_0051351	positive regulation of ligase activity	http://purl.obolibrary.org/obo/GO_0043085	positive regulation of catalytic activity		
http://purl.obolibrary.org/obo/GO_0051345	positive regulation of hydrolase activity	http://purl.obolibrary.org/obo/GO_0051336	regulation of hydrolase activity		
http://purl.obolibrary.org/obo/GO_0051353	positive regulation of oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0051341	regulation of oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0150074	positive regulation of protein-glutamine gamma-glutamyltransferase activity	http://purl.obolibrary.org/obo/GO_0051338	regulation of transferase activity		
http://purl.obolibrary.org/obo/GO_0033673	negative regulation of kinase activity	http://purl.obolibrary.org/obo/GO_0043549	regulation of kinase activity		
http://purl.obolibrary.org/obo/GO_0051354	negative regulation of oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0051341	regulation of oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0051346	negative regulation of hydrolase activity	http://purl.obolibrary.org/obo/GO_0051336	regulation of hydrolase activity		
http://purl.obolibrary.org/obo/GO_0006022	aminoglycan metabolic process	http://purl.obolibrary.org/obo/GO_1901135	carbohydrate derivative metabolic process		
http://purl.obolibrary.org/obo/GO_0019538	protein metabolic process	http://purl.obolibrary.org/obo/GO_0044238	primary metabolic process		
http://purl.obolibrary.org/obo/GO_0043412	macromolecule modification	http://purl.obolibrary.org/obo/GO_0043170	macromolecule metabolic process		
http://purl.obolibrary.org/obo/GO_0009057	macromolecule catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0009059	macromolecule biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0005794	Golgi apparatus	http://purl.obolibrary.org/obo/GO_0043231	intracellular membrane-bounded organelle		
http://purl.obolibrary.org/obo/GO_0042579	microbody	http://purl.obolibrary.org/obo/GO_0043231	intracellular membrane-bounded organelle		
http://purl.obolibrary.org/obo/GO_0005634	nucleus	http://purl.obolibrary.org/obo/GO_0043231	intracellular membrane-bounded organelle		
http://purl.obolibrary.org/obo/GO_0005739	mitochondrion	http://purl.obolibrary.org/obo/GO_0043231	intracellular membrane-bounded organelle		
http://purl.obolibrary.org/obo/GO_0005773	vacuole	http://purl.obolibrary.org/obo/GO_0043231	intracellular membrane-bounded organelle		
http://purl.obolibrary.org/obo/GO_0097708	intracellular vesicle	http://purl.obolibrary.org/obo/GO_0031982	vesicle		
http://purl.obolibrary.org/obo/GO_0043242	negative regulation of protein-containing complex disassembly	http://purl.obolibrary.org/obo/GO_0051129	negative regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0043243	positive regulation of protein-containing complex disassembly	http://purl.obolibrary.org/obo/GO_0051130	positive regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0032885	regulation of polysaccharide biosynthetic process	http://purl.obolibrary.org/obo/GO_0032881	regulation of polysaccharide metabolic process		
http://purl.obolibrary.org/obo/GO_0030016	myofibril	http://purl.obolibrary.org/obo/GO_0043292	contractile muscle fiber		
http://purl.obolibrary.org/obo/GO_0097503	sialylation	http://purl.obolibrary.org/obo/GO_0043412	macromolecule modification		
http://purl.obolibrary.org/obo/GO_0005981	regulation of glycogen catabolic process	http://purl.obolibrary.org/obo/GO_0070873	regulation of glycogen metabolic process		
http://purl.obolibrary.org/obo/GO_0006110	regulation of glycolytic process	http://purl.obolibrary.org/obo/GO_0033121	regulation of purine nucleotide catabolic process		
http://purl.obolibrary.org/obo/GO_0009250	glucan biosynthetic process	http://purl.obolibrary.org/obo/GO_0000271	polysaccharide biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009251	glucan catabolic process	http://purl.obolibrary.org/obo/GO_0000272	polysaccharide catabolic process		
http://purl.obolibrary.org/obo/GO_0051459	regulation of corticotropin secretion	http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0032276	regulation of gonadotropin secretion	http://purl.obolibrary.org/obo/GO_0046883	regulation of hormone secretion		
http://purl.obolibrary.org/obo/GO_2000828	regulation of parathyroid hormone secretion	http://purl.obolibrary.org/obo/GO_0046883	regulation of hormone secretion		
http://purl.obolibrary.org/obo/GO_1903792	negative regulation of monoatomic anion transport	http://purl.obolibrary.org/obo/GO_0043271	negative regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_1903793	positive regulation of monoatomic anion transport	http://purl.obolibrary.org/obo/GO_0043270	positive regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_2001225	regulation of chloride transport	http://purl.obolibrary.org/obo/GO_0044070	regulation of monoatomic anion transport		
http://purl.obolibrary.org/obo/GO_0043254	regulation of protein-containing complex assembly	http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0090153	regulation of sphingolipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0010556	regulation of macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0044089	positive regulation of cellular component biogenesis	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0060491	regulation of cell projection assembly	http://purl.obolibrary.org/obo/GO_0031344	regulation of cell projection organization		
http://purl.obolibrary.org/obo/GO_1902115	regulation of organelle assembly	http://purl.obolibrary.org/obo/GO_0033043	regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0005975	carbohydrate metabolic process	http://purl.obolibrary.org/obo/GO_0044238	primary metabolic process		
http://purl.obolibrary.org/obo/GO_0006099	tricarboxylic acid cycle	http://purl.obolibrary.org/obo/GO_0044238	primary metabolic process		
http://purl.obolibrary.org/obo/GO_0006139	nucleobase-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0044238	primary metabolic process		
http://purl.obolibrary.org/obo/GO_0006629	lipid metabolic process	http://purl.obolibrary.org/obo/GO_0044238	primary metabolic process		
http://purl.obolibrary.org/obo/GO_0006396	RNA processing	http://purl.obolibrary.org/obo/GO_0044238	primary metabolic process		
http://purl.obolibrary.org/obo/GO_0006520	amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0044238	primary metabolic process		
http://purl.obolibrary.org/obo/GO_0006066	alcohol metabolic process	http://purl.obolibrary.org/obo/GO_0044281	small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0006082	organic acid metabolic process	http://purl.obolibrary.org/obo/GO_0044281	small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0006766	vitamin metabolic process	http://purl.obolibrary.org/obo/GO_0044281	small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0019627	urea metabolic process	http://purl.obolibrary.org/obo/GO_0071941	nitrogen cycle metabolic process		
http://purl.obolibrary.org/obo/GO_0044282	small molecule catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0044283	small molecule biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0007320	insemination	http://purl.obolibrary.org/obo/GO_0044703	multi-organism reproductive process		
http://purl.obolibrary.org/obo/GO_0007565	female pregnancy	http://purl.obolibrary.org/obo/GO_0044703	multi-organism reproductive process		
http://purl.obolibrary.org/obo/GO_0007567	parturition	http://purl.obolibrary.org/obo/GO_0044703	multi-organism reproductive process		
http://purl.obolibrary.org/obo/GO_0005901	caveola	http://purl.obolibrary.org/obo/GO_0044853	plasma membrane raft		
http://purl.obolibrary.org/obo/GO_0099182	presynaptic intermediate filament cytoskeleton	http://purl.obolibrary.org/obo/GO_0099569	presynaptic cytoskeleton		
http://purl.obolibrary.org/obo/GO_0099160	postsynaptic intermediate filament cytoskeleton	http://purl.obolibrary.org/obo/GO_0099571	postsynaptic cytoskeleton		
http://purl.obolibrary.org/obo/GO_0045144	meiotic sister chromatid segregation	http://purl.obolibrary.org/obo/GO_0000819	sister chromatid segregation		
http://purl.obolibrary.org/obo/GO_0016321	female meiosis chromosome segregation	http://purl.obolibrary.org/obo/GO_0045132	meiotic chromosome segregation		
http://purl.obolibrary.org/obo/GO_0045254	pyruvate dehydrogenase complex	http://purl.obolibrary.org/obo/GO_1902493	acetyltransferase complex		
http://purl.obolibrary.org/obo/GO_1905208	negative regulation of cardiocyte differentiation	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_2000737	negative regulation of stem cell differentiation	http://purl.obolibrary.org/obo/GO_2000736	regulation of stem cell differentiation		
http://purl.obolibrary.org/obo/GO_0030857	negative regulation of epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0030856	regulation of epithelial cell differentiation		
http://purl.obolibrary.org/obo/GO_0045638	negative regulation of myeloid cell differentiation	http://purl.obolibrary.org/obo/GO_0045637	regulation of myeloid cell differentiation		
http://purl.obolibrary.org/obo/GO_0045599	negative regulation of fat cell differentiation	http://purl.obolibrary.org/obo/GO_0045598	regulation of fat cell differentiation		
http://purl.obolibrary.org/obo/GO_0045668	negative regulation of osteoblast differentiation	http://purl.obolibrary.org/obo/GO_0045667	regulation of osteoblast differentiation		
http://purl.obolibrary.org/obo/GO_0045701	negative regulation of spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_2000242	negative regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0051148	negative regulation of muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051147	regulation of muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_1901533	negative regulation of hematopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_1901532	regulation of hematopoietic progenitor cell differentiation		
http://purl.obolibrary.org/obo/GO_2001213	negative regulation of vasculogenesis	http://purl.obolibrary.org/obo/GO_2001212	regulation of vasculogenesis		
http://purl.obolibrary.org/obo/GO_0010454	negative regulation of cell fate commitment	http://purl.obolibrary.org/obo/GO_0010453	regulation of cell fate commitment		
http://purl.obolibrary.org/obo/GO_0010721	negative regulation of cell development	http://purl.obolibrary.org/obo/GO_0060284	regulation of cell development		
http://purl.obolibrary.org/obo/GO_0045665	negative regulation of neuron differentiation	http://purl.obolibrary.org/obo/GO_0045664	regulation of neuron differentiation		
http://purl.obolibrary.org/obo/GO_0045860	positive regulation of protein kinase activity	http://purl.obolibrary.org/obo/GO_0033674	positive regulation of kinase activity		
http://purl.obolibrary.org/obo/GO_0071900	regulation of protein serine/threonine kinase activity	http://purl.obolibrary.org/obo/GO_0045859	regulation of protein kinase activity		
http://purl.obolibrary.org/obo/GO_0032147	activation of protein kinase activity	http://purl.obolibrary.org/obo/GO_0045860	positive regulation of protein kinase activity		
http://purl.obolibrary.org/obo/GO_0071902	positive regulation of protein serine/threonine kinase activity	http://purl.obolibrary.org/obo/GO_0071900	regulation of protein serine/threonine kinase activity		
http://purl.obolibrary.org/obo/GO_0036378	calcitriol biosynthetic process from calciol	http://purl.obolibrary.org/obo/GO_0042368	vitamin D biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006661	phosphatidylinositol biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0019359	nicotinamide nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0019363	pyridine nucleotide biosynthetic process		
http://purl.obolibrary.org/obo/GO_0046887	positive regulation of hormone secretion	http://purl.obolibrary.org/obo/GO_0010647	positive regulation of cell communication		
http://purl.obolibrary.org/obo/GO_0046888	negative regulation of hormone secretion	http://purl.obolibrary.org/obo/GO_0010648	negative regulation of cell communication		
http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion	http://purl.obolibrary.org/obo/GO_0002791	regulation of peptide secretion		
http://purl.obolibrary.org/obo/GO_0090030	regulation of steroid hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0050810	regulation of steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0032353	negative regulation of hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0009890	negative regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0046886	positive regulation of hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0009891	positive regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0046889	positive regulation of lipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009891	positive regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0051055	negative regulation of lipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009890	negative regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0071071	regulation of phospholipid biosynthetic process	http://purl.obolibrary.org/obo/GO_1903725	regulation of phospholipid metabolic process		
http://purl.obolibrary.org/obo/GO_0007034	vacuolar transport	http://purl.obolibrary.org/obo/GO_0046907	intracellular transport		
http://purl.obolibrary.org/obo/GO_0016482	cytosolic transport	http://purl.obolibrary.org/obo/GO_0046907	intracellular transport		
http://purl.obolibrary.org/obo/GO_0043574	peroxisomal transport	http://purl.obolibrary.org/obo/GO_0046907	intracellular transport		
http://purl.obolibrary.org/obo/GO_0006839	mitochondrial transport	http://purl.obolibrary.org/obo/GO_0046907	intracellular transport		
http://purl.obolibrary.org/obo/GO_0030705	cytoskeleton-dependent intracellular transport	http://purl.obolibrary.org/obo/GO_0046907	intracellular transport		
http://purl.obolibrary.org/obo/GO_0005381	iron ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0046915	transition metal ion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0005579	membrane attack complex	http://purl.obolibrary.org/obo/GO_0098797	plasma membrane protein complex		
http://purl.obolibrary.org/obo/GO_0036053	glomerular endothelium fenestra	http://purl.obolibrary.org/obo/GO_0046930	pore complex		
http://purl.obolibrary.org/obo/GO_0006835	dicarboxylic acid transport	http://purl.obolibrary.org/obo/GO_0046942	carboxylic acid transport		
http://purl.obolibrary.org/obo/GO_0015718	monocarboxylic acid transport	http://purl.obolibrary.org/obo/GO_0046942	carboxylic acid transport		
http://purl.obolibrary.org/obo/GO_1905039	carboxylic acid transmembrane transport	http://purl.obolibrary.org/obo/GO_0055085	transmembrane transport		
http://purl.obolibrary.org/obo/GO_0015739	sialic acid transport	http://purl.obolibrary.org/obo/GO_0046942	carboxylic acid transport		
http://purl.obolibrary.org/obo/GO_0015807	L-amino acid transport	http://purl.obolibrary.org/obo/GO_0006865	amino acid transport		
http://purl.obolibrary.org/obo/GO_0015812	gamma-aminobutyric acid transport	http://purl.obolibrary.org/obo/GO_0006865	amino acid transport		
http://purl.obolibrary.org/obo/GO_0007283	spermatogenesis	http://purl.obolibrary.org/obo/GO_0003006	developmental process involved in reproduction		
http://purl.obolibrary.org/obo/GO_0007623	circadian rhythm	http://purl.obolibrary.org/obo/GO_0048511	rhythmic process		
http://purl.obolibrary.org/obo/GO_0022602	ovulation cycle process	http://purl.obolibrary.org/obo/GO_0022414	reproductive process		
http://purl.obolibrary.org/obo/GO_0042698	ovulation cycle	http://purl.obolibrary.org/obo/GO_0048609	multicellular organismal reproductive process		
http://purl.obolibrary.org/obo/GO_0022410	circadian sleep/wake cycle process	http://purl.obolibrary.org/obo/GO_0048512	circadian behavior		
http://purl.obolibrary.org/obo/GO_0042745	circadian sleep/wake cycle	http://purl.obolibrary.org/obo/GO_0048512	circadian behavior		
http://purl.obolibrary.org/obo/GO_0007162	negative regulation of cell adhesion	http://purl.obolibrary.org/obo/GO_0030155	regulation of cell adhesion		
http://purl.obolibrary.org/obo/GO_0045596	negative regulation of cell differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_1900077	negative regulation of cellular response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0048585	negative regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0003354	negative regulation of cilium movement	http://purl.obolibrary.org/obo/GO_0003352	regulation of cilium movement		
http://purl.obolibrary.org/obo/GO_0031342	negative regulation of cell killing	http://purl.obolibrary.org/obo/GO_0031341	regulation of cell killing		
http://purl.obolibrary.org/obo/GO_0045786	negative regulation of cell cycle	http://purl.obolibrary.org/obo/GO_0051726	regulation of cell cycle		
http://purl.obolibrary.org/obo/GO_0050866	negative regulation of cell activation	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_1903531	negative regulation of secretion by cell	http://purl.obolibrary.org/obo/GO_1903530	regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_0031642	negative regulation of myelination	http://purl.obolibrary.org/obo/GO_0031645	negative regulation of nervous system process		
http://purl.obolibrary.org/obo/GO_0032387	negative regulation of intracellular transport	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0043069	negative regulation of programmed cell death	http://purl.obolibrary.org/obo/GO_0043067	regulation of programmed cell death		
http://purl.obolibrary.org/obo/GO_0051782	negative regulation of cell division	http://purl.obolibrary.org/obo/GO_0051302	regulation of cell division		
http://purl.obolibrary.org/obo/GO_2000146	negative regulation of cell motility	http://purl.obolibrary.org/obo/GO_0040013	negative regulation of locomotion		
http://purl.obolibrary.org/obo/GO_0034763	negative regulation of transmembrane transport	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0008285	negative regulation of cell population proliferation	http://purl.obolibrary.org/obo/GO_0042127	regulation of cell population proliferation		
http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0010648	negative regulation of cell communication	http://purl.obolibrary.org/obo/GO_0010646	regulation of cell communication		
http://purl.obolibrary.org/obo/GO_0010888	negative regulation of lipid storage	http://purl.obolibrary.org/obo/GO_1905953	negative regulation of lipid localization		
http://purl.obolibrary.org/obo/GO_0051129	negative regulation of cellular component organization	http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0061062	regulation of nematode larval development	http://purl.obolibrary.org/obo/GO_0048580	regulation of post-embryonic development		
http://purl.obolibrary.org/obo/GO_0048581	negative regulation of post-embryonic development	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0048582	positive regulation of post-embryonic development	http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0007276	gamete generation	http://purl.obolibrary.org/obo/GO_0048609	multicellular organismal reproductive process		
http://purl.obolibrary.org/obo/GO_0019098	reproductive behavior	http://purl.obolibrary.org/obo/GO_0007610	behavior		
http://purl.obolibrary.org/obo/GO_0022412	cellular process involved in reproduction in multicellular organism	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0060135	maternal process involved in female pregnancy	http://purl.obolibrary.org/obo/GO_0048609	multicellular organismal reproductive process		
http://purl.obolibrary.org/obo/GO_0042713	sperm ejaculation	http://purl.obolibrary.org/obo/GO_0048609	multicellular organismal reproductive process		
http://purl.obolibrary.org/obo/GO_0043084	penile erection	http://purl.obolibrary.org/obo/GO_0048609	multicellular organismal reproductive process		
http://purl.obolibrary.org/obo/GO_0060136	embryonic process involved in female pregnancy	http://purl.obolibrary.org/obo/GO_0048609	multicellular organismal reproductive process		
http://purl.obolibrary.org/obo/GO_0007409	axonogenesis	http://purl.obolibrary.org/obo/GO_0048812	neuron projection morphogenesis		
http://purl.obolibrary.org/obo/GO_0050771	negative regulation of axonogenesis	http://purl.obolibrary.org/obo/GO_0010977	negative regulation of neuron projection development		
http://purl.obolibrary.org/obo/GO_0014014	negative regulation of gliogenesis	http://purl.obolibrary.org/obo/GO_0014013	regulation of gliogenesis		
http://purl.obolibrary.org/obo/GO_0006873	intracellular monoatomic ion homeostasis	http://purl.obolibrary.org/obo/GO_0055082	intracellular chemical homeostasis		
http://purl.obolibrary.org/obo/GO_0055080	monoatomic cation homeostasis	http://purl.obolibrary.org/obo/GO_0050801	monoatomic ion homeostasis		
http://purl.obolibrary.org/obo/GO_0055081	monoatomic anion homeostasis	http://purl.obolibrary.org/obo/GO_0050801	monoatomic ion homeostasis		
http://purl.obolibrary.org/obo/GO_0098631	cell adhesion mediator activity	http://purl.obolibrary.org/obo/GO_0050839	cell adhesion molecule binding		
http://purl.obolibrary.org/obo/GO_0007611	learning or memory	http://purl.obolibrary.org/obo/GO_0007610	behavior		
http://purl.obolibrary.org/obo/GO_0009628	response to abiotic stimulus	http://purl.obolibrary.org/obo/GO_0050896	response to stimulus		
http://purl.obolibrary.org/obo/GO_0051716	cellular response to stimulus	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0006950	response to stress	http://purl.obolibrary.org/obo/GO_0050896	response to stimulus		
http://purl.obolibrary.org/obo/GO_0006955	immune response	http://purl.obolibrary.org/obo/GO_0002376	immune system process		
http://purl.obolibrary.org/obo/GO_0009605	response to external stimulus	http://purl.obolibrary.org/obo/GO_0050896	response to stimulus		
http://purl.obolibrary.org/obo/GO_0009607	response to biotic stimulus	http://purl.obolibrary.org/obo/GO_0050896	response to stimulus		
http://purl.obolibrary.org/obo/GO_0031667	response to nutrient levels	http://purl.obolibrary.org/obo/GO_0050896	response to stimulus		
http://purl.obolibrary.org/obo/GO_0042221	response to chemical	http://purl.obolibrary.org/obo/GO_0050896	response to stimulus		
http://purl.obolibrary.org/obo/GO_0009719	response to endogenous stimulus	http://purl.obolibrary.org/obo/GO_0050896	response to stimulus		
http://purl.obolibrary.org/obo/GO_0051606	detection of stimulus	http://purl.obolibrary.org/obo/GO_0050896	response to stimulus		
http://purl.obolibrary.org/obo/GO_0007601	visual perception	http://purl.obolibrary.org/obo/GO_0050953	sensory perception of light stimulus		
http://purl.obolibrary.org/obo/GO_0007605	sensory perception of sound	http://purl.obolibrary.org/obo/GO_0050954	sensory perception of mechanical stimulus		
http://purl.obolibrary.org/obo/GO_0050975	sensory perception of touch	http://purl.obolibrary.org/obo/GO_0050954	sensory perception of mechanical stimulus		
http://purl.obolibrary.org/obo/GO_0045910	negative regulation of DNA recombination	http://purl.obolibrary.org/obo/GO_0000018	regulation of DNA recombination		
http://purl.obolibrary.org/obo/GO_1901859	negative regulation of mitochondrial DNA metabolic process	http://purl.obolibrary.org/obo/GO_1901858	regulation of mitochondrial DNA metabolic process		
http://purl.obolibrary.org/obo/GO_0015145	monosaccharide transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0051119	sugar transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0006810	transport	http://purl.obolibrary.org/obo/GO_0051234	establishment of localization		
http://purl.obolibrary.org/obo/GO_0051649	establishment of localization in cell	http://purl.obolibrary.org/obo/GO_0051234	establishment of localization		
http://purl.obolibrary.org/obo/GO_0051656	establishment of organelle localization	http://purl.obolibrary.org/obo/GO_0051640	organelle localization		
http://purl.obolibrary.org/obo/GO_0045184	establishment of protein localization	http://purl.obolibrary.org/obo/GO_0051234	establishment of localization		
http://purl.obolibrary.org/obo/GO_0016485	protein processing	http://purl.obolibrary.org/obo/GO_0006508	proteolysis		
http://purl.obolibrary.org/obo/GO_0072376	protein activation cascade	http://purl.obolibrary.org/obo/GO_0051604	protein maturation		
http://purl.obolibrary.org/obo/GO_0180046	GPI anchored protein biosynthesis	http://purl.obolibrary.org/obo/GO_0051604	protein maturation		
http://purl.obolibrary.org/obo/GO_0051650	establishment of vesicle localization	http://purl.obolibrary.org/obo/GO_0051656	establishment of organelle localization		
http://purl.obolibrary.org/obo/GO_0007269	neurotransmitter secretion	http://purl.obolibrary.org/obo/GO_0006836	neurotransmitter transport		
http://purl.obolibrary.org/obo/GO_0035773	insulin secretion involved in cellular response to glucose stimulus	http://purl.obolibrary.org/obo/GO_0030073	insulin secretion		
http://purl.obolibrary.org/obo/GO_0099123	somato-dendritic dopamine secretion	http://purl.obolibrary.org/obo/GO_0014046	dopamine secretion		
http://purl.obolibrary.org/obo/GO_0099124	axonal dopamine secretion	http://purl.obolibrary.org/obo/GO_0014046	dopamine secretion		
http://purl.obolibrary.org/obo/GO_0033554	cellular response to stress	http://purl.obolibrary.org/obo/GO_0006950	response to stress		
http://purl.obolibrary.org/obo/GO_0070887	cellular response to chemical stimulus	http://purl.obolibrary.org/obo/GO_0042221	response to chemical		
http://purl.obolibrary.org/obo/GO_0031669	cellular response to nutrient levels	http://purl.obolibrary.org/obo/GO_0031667	response to nutrient levels		
http://purl.obolibrary.org/obo/GO_0104004	cellular response to environmental stimulus	http://purl.obolibrary.org/obo/GO_0051716	cellular response to stimulus		
http://purl.obolibrary.org/obo/GO_0051784	negative regulation of nuclear division	http://purl.obolibrary.org/obo/GO_0010639	negative regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0051785	positive regulation of nuclear division	http://purl.obolibrary.org/obo/GO_0010638	positive regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0006855	xenobiotic transmembrane transport	http://purl.obolibrary.org/obo/GO_0042908	xenobiotic transport		
http://purl.obolibrary.org/obo/GO_1990542	mitochondrial transmembrane transport	http://purl.obolibrary.org/obo/GO_0006839	mitochondrial transport		
http://purl.obolibrary.org/obo/GO_0003333	amino acid transmembrane transport	http://purl.obolibrary.org/obo/GO_0006865	amino acid transport		
http://purl.obolibrary.org/obo/GO_0098739	import across plasma membrane	http://purl.obolibrary.org/obo/GO_0098657	import into cell		
http://purl.obolibrary.org/obo/GO_0035461	vitamin transmembrane transport	http://purl.obolibrary.org/obo/GO_0051180	vitamin transport		
http://purl.obolibrary.org/obo/GO_0045117	azole transmembrane transport	http://purl.obolibrary.org/obo/GO_0071705	nitrogen compound transport		
http://purl.obolibrary.org/obo/GO_0009112	nucleobase metabolic process	http://purl.obolibrary.org/obo/GO_0055086	nucleobase-containing small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_0034404	nucleobase-containing small molecule biosynthetic process	http://purl.obolibrary.org/obo/GO_0034654	nucleobase-containing compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0060005	vestibular reflex	http://purl.obolibrary.org/obo/GO_0060004	reflex		
http://purl.obolibrary.org/obo/GO_0060082	eye blink reflex	http://purl.obolibrary.org/obo/GO_0060004	reflex		
http://purl.obolibrary.org/obo/GO_0038023	signaling receptor activity	http://purl.obolibrary.org/obo/GO_0060089	molecular transducer activity		
http://purl.obolibrary.org/obo/GO_0030595	leukocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0050900	leukocyte migration		
http://purl.obolibrary.org/obo/GO_0006900	vesicle budding from membrane	http://purl.obolibrary.org/obo/GO_0016050	vesicle organization		
http://purl.obolibrary.org/obo/GO_0007006	mitochondrial membrane organization	http://purl.obolibrary.org/obo/GO_0007005	mitochondrion organization		
http://purl.obolibrary.org/obo/GO_0010324	membrane invagination	http://purl.obolibrary.org/obo/GO_0061024	membrane organization		
http://purl.obolibrary.org/obo/GO_0007009	plasma membrane organization	http://purl.obolibrary.org/obo/GO_0061024	membrane organization		
http://purl.obolibrary.org/obo/GO_0061025	membrane fusion	http://purl.obolibrary.org/obo/GO_0061024	membrane organization		
http://purl.obolibrary.org/obo/GO_0032594	protein transport within lipid bilayer	http://purl.obolibrary.org/obo/GO_0006886	intracellular protein transport		
http://purl.obolibrary.org/obo/GO_0007517	muscle organ development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0061133	endopeptidase activator activity	http://purl.obolibrary.org/obo/GO_0016504	peptidase activator activity		
http://purl.obolibrary.org/obo/GO_0022618	protein-RNA complex assembly	http://purl.obolibrary.org/obo/GO_0071826	protein-RNA complex organization		
http://purl.obolibrary.org/obo/GO_0005759	mitochondrial matrix	http://purl.obolibrary.org/obo/GO_0070013	intracellular organelle lumen		
http://purl.obolibrary.org/obo/GO_0005775	vacuolar lumen	http://purl.obolibrary.org/obo/GO_0070013	intracellular organelle lumen		
http://purl.obolibrary.org/obo/GO_0031981	nuclear lumen	http://purl.obolibrary.org/obo/GO_0070013	intracellular organelle lumen		
http://purl.obolibrary.org/obo/GO_0005911	cell-cell junction	http://purl.obolibrary.org/obo/GO_0070161	anchoring junction		
http://purl.obolibrary.org/obo/GO_0010032	meiotic chromosome condensation	http://purl.obolibrary.org/obo/GO_0030261	chromosome condensation		
http://purl.obolibrary.org/obo/GO_0070874	negative regulation of glycogen metabolic process	http://purl.obolibrary.org/obo/GO_0045912	negative regulation of carbohydrate metabolic process		
http://purl.obolibrary.org/obo/GO_0070875	positive regulation of glycogen metabolic process	http://purl.obolibrary.org/obo/GO_0010907	positive regulation of glucose metabolic process		
http://purl.obolibrary.org/obo/GO_0015837	amine transport	http://purl.obolibrary.org/obo/GO_0071705	nitrogen compound transport		
http://purl.obolibrary.org/obo/GO_0015844	monoamine transport	http://purl.obolibrary.org/obo/GO_0071705	nitrogen compound transport		
http://purl.obolibrary.org/obo/GO_0015697	quaternary ammonium group transport	http://purl.obolibrary.org/obo/GO_0071705	nitrogen compound transport		
http://purl.obolibrary.org/obo/GO_0051608	histamine transport	http://purl.obolibrary.org/obo/GO_0071705	nitrogen compound transport		
http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion	http://purl.obolibrary.org/obo/GO_0046879	hormone secretion		
http://purl.obolibrary.org/obo/GO_0032218	riboflavin transport	http://purl.obolibrary.org/obo/GO_0051180	vitamin transport		
http://purl.obolibrary.org/obo/GO_0015870	acetylcholine transport	http://purl.obolibrary.org/obo/GO_1901374	acetate ester transport		
http://purl.obolibrary.org/obo/GO_0015888	thiamine transport	http://purl.obolibrary.org/obo/GO_0051180	vitamin transport		
http://purl.obolibrary.org/obo/GO_0015889	cobalamin transport	http://purl.obolibrary.org/obo/GO_0051180	vitamin transport		
http://purl.obolibrary.org/obo/GO_0072522	purine-containing compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0072523	purine-containing compound catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0072525	pyridine-containing compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0072526	pyridine-containing compound catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0042816	vitamin B6 metabolic process	http://purl.obolibrary.org/obo/GO_0072524	pyridine-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0006109	regulation of carbohydrate metabolic process	http://purl.obolibrary.org/obo/GO_0080090	regulation of primary metabolic process		
http://purl.obolibrary.org/obo/GO_0019219	regulation of nucleobase-containing compound metabolic process	http://purl.obolibrary.org/obo/GO_0080090	regulation of primary metabolic process		
http://purl.obolibrary.org/obo/GO_0006521	regulation of amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0080090	regulation of primary metabolic process		
http://purl.obolibrary.org/obo/GO_0019216	regulation of lipid metabolic process	http://purl.obolibrary.org/obo/GO_0080090	regulation of primary metabolic process		
http://purl.obolibrary.org/obo/GO_0043484	regulation of RNA splicing	http://purl.obolibrary.org/obo/GO_0010468	regulation of gene expression		
http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process	http://purl.obolibrary.org/obo/GO_0060255	regulation of macromolecule metabolic process		
http://purl.obolibrary.org/obo/GO_0031946	regulation of glucocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0031943	regulation of glucocorticoid metabolic process		
http://purl.obolibrary.org/obo/GO_0090031	positive regulation of steroid hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0046886	positive regulation of hormone biosynthetic process		
http://purl.obolibrary.org/obo/GO_0090032	negative regulation of steroid hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0010894	negative regulation of steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006937	regulation of muscle contraction	http://purl.obolibrary.org/obo/GO_0090257	regulation of muscle system process		
http://purl.obolibrary.org/obo/GO_0006259	DNA metabolic process	http://purl.obolibrary.org/obo/GO_0090304	nucleic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0016070	RNA metabolic process	http://purl.obolibrary.org/obo/GO_0090304	nucleic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0007411	axon guidance	http://purl.obolibrary.org/obo/GO_0097485	neuron projection guidance		
http://purl.obolibrary.org/obo/GO_0004879	nuclear receptor activity	http://purl.obolibrary.org/obo/GO_0038023	signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0097742	de novo centriole assembly	http://purl.obolibrary.org/obo/GO_0098534	centriole assembly		
http://purl.obolibrary.org/obo/GO_0005587	collagen type IV trimer	http://purl.obolibrary.org/obo/GO_0098642	network-forming collagen trimer		
http://purl.obolibrary.org/obo/GO_0140154	chicken-wire-like collagen network	http://purl.obolibrary.org/obo/GO_0098645	complex of network-forming collagens		
http://purl.obolibrary.org/obo/GO_0030234	enzyme regulator activity	http://purl.obolibrary.org/obo/GO_0098772	molecular function regulator activity		
http://purl.obolibrary.org/obo/GO_0030545	signaling receptor regulator activity	http://purl.obolibrary.org/obo/GO_0098772	molecular function regulator activity		
http://purl.obolibrary.org/obo/GO_0140678	molecular function inhibitor activity	http://purl.obolibrary.org/obo/GO_0098772	molecular function regulator activity		
http://purl.obolibrary.org/obo/GO_0140677	molecular function activator activity	http://purl.obolibrary.org/obo/GO_0098772	molecular function regulator activity		
http://purl.obolibrary.org/obo/GO_0141108	transporter regulator activity	http://purl.obolibrary.org/obo/GO_0098772	molecular function regulator activity		
http://purl.obolibrary.org/obo/GO_0098800	inner mitochondrial membrane protein complex	http://purl.obolibrary.org/obo/GO_0098796	membrane protein complex		
http://purl.obolibrary.org/obo/GO_0019815	B cell receptor complex	http://purl.obolibrary.org/obo/GO_0019814	immunoglobulin complex		
http://purl.obolibrary.org/obo/GO_0042101	T cell receptor complex	http://purl.obolibrary.org/obo/GO_0098802	plasma membrane signaling receptor complex		
http://purl.obolibrary.org/obo/GO_0043384	pre-T cell receptor complex	http://purl.obolibrary.org/obo/GO_0098802	plasma membrane signaling receptor complex		
http://purl.obolibrary.org/obo/GO_0005902	microvillus	http://purl.obolibrary.org/obo/GO_0098858	actin-based cell projection		
http://purl.obolibrary.org/obo/GO_0005903	brush border	http://purl.obolibrary.org/obo/GO_0098862	cluster of actin-based cell projections		
http://purl.obolibrary.org/obo/GO_0151001	tuft	http://purl.obolibrary.org/obo/GO_0098862	cluster of actin-based cell projections		
http://purl.obolibrary.org/obo/GO_0007268	chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0098916	anterograde trans-synaptic signaling		
http://purl.obolibrary.org/obo/GO_0006911	phagocytosis, engulfment	http://purl.obolibrary.org/obo/GO_0099024	plasma membrane invagination		
http://purl.obolibrary.org/obo/GO_0098644	complex of collagen trimers	http://purl.obolibrary.org/obo/GO_0099080	supramolecular complex		
http://purl.obolibrary.org/obo/GO_0099081	supramolecular polymer	http://purl.obolibrary.org/obo/GO_0099080	supramolecular complex		
http://purl.obolibrary.org/obo/GO_0005246	calcium channel regulator activity	http://purl.obolibrary.org/obo/GO_0099106	ion channel regulator activity		
http://purl.obolibrary.org/obo/GO_0008200	ion channel inhibitor activity	http://purl.obolibrary.org/obo/GO_0016248	channel inhibitor activity		
http://purl.obolibrary.org/obo/GO_0032838	plasma membrane bounded cell projection cytoplasm	http://purl.obolibrary.org/obo/GO_0099568	cytoplasmic region		
http://purl.obolibrary.org/obo/GO_1901136	carbohydrate derivative catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_1901137	carbohydrate derivative biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0016137	glycoside metabolic process	http://purl.obolibrary.org/obo/GO_1901135	carbohydrate derivative metabolic process		
http://purl.obolibrary.org/obo/GO_0015119	hexose phosphate transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015605	organophosphate ester transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015136	sialic acid transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_1901505	carbohydrate derivative transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0170035	L-amino acid catabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006743	ubiquinone metabolic process	http://purl.obolibrary.org/obo/GO_1901661	quinone metabolic process		
http://purl.obolibrary.org/obo/GO_1902490	regulation of sperm capacitation	http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_1903430	negative regulation of cell maturation	http://purl.obolibrary.org/obo/GO_0010721	negative regulation of cell development		
http://purl.obolibrary.org/obo/GO_1903431	positive regulation of cell maturation	http://purl.obolibrary.org/obo/GO_0010720	positive regulation of cell development		
http://purl.obolibrary.org/obo/GO_0006664	glycolipid metabolic process	http://purl.obolibrary.org/obo/GO_1903509	liposaccharide metabolic process		
http://purl.obolibrary.org/obo/GO_1903523	negative regulation of blood circulation	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_1903524	positive regulation of blood circulation	http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0008016	regulation of heart contraction	http://purl.obolibrary.org/obo/GO_1903522	regulation of blood circulation		
http://purl.obolibrary.org/obo/GO_0019229	regulation of vasoconstriction	http://purl.obolibrary.org/obo/GO_0097746	blood vessel diameter maintenance		
http://purl.obolibrary.org/obo/GO_0098708	D-glucose import across plasma membrane	http://purl.obolibrary.org/obo/GO_0140271	hexose import across plasma membrane		
http://purl.obolibrary.org/obo/GO_1904782	negative regulation of NMDA glutamate receptor activity	http://purl.obolibrary.org/obo/GO_0032413	negative regulation of ion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_2000832	negative regulation of steroid hormone secretion	http://purl.obolibrary.org/obo/GO_0046888	negative regulation of hormone secretion		
http://purl.obolibrary.org/obo/GO_2000833	positive regulation of steroid hormone secretion	http://purl.obolibrary.org/obo/GO_0046887	positive regulation of hormone secretion		
http://purl.obolibrary.org/obo/GO_2000834	regulation of androgen secretion	http://purl.obolibrary.org/obo/GO_2000831	regulation of steroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2000846	regulation of corticosteroid hormone secretion	http://purl.obolibrary.org/obo/GO_2000831	regulation of steroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2000870	regulation of progesterone secretion	http://purl.obolibrary.org/obo/GO_2000194	regulation of female gonad development		
http://purl.obolibrary.org/obo/GO_0050765	negative regulation of phagocytosis	http://purl.obolibrary.org/obo/GO_0050764	regulation of phagocytosis		
http://purl.obolibrary.org/obo/GO_0048261	negative regulation of receptor-mediated endocytosis	http://purl.obolibrary.org/obo/GO_0048259	regulation of receptor-mediated endocytosis		
http://purl.obolibrary.org/obo/GO_0050766	positive regulation of phagocytosis	http://purl.obolibrary.org/obo/GO_0050764	regulation of phagocytosis		
http://purl.obolibrary.org/obo/GO_0048260	positive regulation of receptor-mediated endocytosis	http://purl.obolibrary.org/obo/GO_0048259	regulation of receptor-mediated endocytosis		
http://purl.obolibrary.org/obo/GO_1904539	negative regulation of glycolytic process through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_1904538	regulation of glycolytic process through fructose-6-phosphate		
http://purl.obolibrary.org/obo/GO_1904540	positive regulation of glycolytic process through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_1904538	regulation of glycolytic process through fructose-6-phosphate		
http://purl.obolibrary.org/obo/GO_0050995	negative regulation of lipid catabolic process	http://purl.obolibrary.org/obo/GO_0050994	regulation of lipid catabolic process		
http://purl.obolibrary.org/obo/GO_1903726	negative regulation of phospholipid metabolic process	http://purl.obolibrary.org/obo/GO_0045936	negative regulation of phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_1903727	positive regulation of phospholipid metabolic process	http://purl.obolibrary.org/obo/GO_1903725	regulation of phospholipid metabolic process		
http://purl.obolibrary.org/obo/GO_0050996	positive regulation of lipid catabolic process	http://purl.obolibrary.org/obo/GO_0050994	regulation of lipid catabolic process		
http://purl.obolibrary.org/obo/GO_0055026	negative regulation of cardiac muscle tissue development	http://purl.obolibrary.org/obo/GO_0055024	regulation of cardiac muscle tissue development		
http://purl.obolibrary.org/obo/GO_0055025	positive regulation of cardiac muscle tissue development	http://purl.obolibrary.org/obo/GO_0055024	regulation of cardiac muscle tissue development		
http://purl.obolibrary.org/obo/GO_1905083	negative regulation of mitochondrial translational elongation	http://purl.obolibrary.org/obo/GO_0070130	negative regulation of mitochondrial translation		
http://purl.obolibrary.org/obo/GO_1900248	negative regulation of cytoplasmic translational elongation	http://purl.obolibrary.org/obo/GO_2000766	negative regulation of cytoplasmic translation		
http://purl.obolibrary.org/obo/GO_1905084	positive regulation of mitochondrial translational elongation	http://purl.obolibrary.org/obo/GO_1905082	regulation of mitochondrial translational elongation		
http://purl.obolibrary.org/obo/GO_1900249	positive regulation of cytoplasmic translational elongation	http://purl.obolibrary.org/obo/GO_1900247	regulation of cytoplasmic translational elongation		
http://purl.obolibrary.org/obo/GO_0045986	negative regulation of smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0006940	regulation of smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0045987	positive regulation of smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0006940	regulation of smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0046005	positive regulation of circadian sleep/wake cycle, REM sleep	http://purl.obolibrary.org/obo/GO_0042320	regulation of circadian sleep/wake cycle, REM sleep		
http://purl.obolibrary.org/obo/GO_1904305	negative regulation of gastro-intestinal system smooth muscle contraction	http://purl.obolibrary.org/obo/GO_1904304	regulation of gastro-intestinal system smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_1904306	positive regulation of gastro-intestinal system smooth muscle contraction	http://purl.obolibrary.org/obo/GO_1904304	regulation of gastro-intestinal system smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_2000542	negative regulation of gastrulation	http://purl.obolibrary.org/obo/GO_0010470	regulation of gastrulation		
http://purl.obolibrary.org/obo/GO_0060557	positive regulation of vitamin D biosynthetic process	http://purl.obolibrary.org/obo/GO_0060556	regulation of vitamin D biosynthetic process		
http://purl.obolibrary.org/obo/GO_0046325	negative regulation of D-glucose import across plasma membrane	http://purl.obolibrary.org/obo/GO_0010829	negative regulation of D-glucose transmembrane transport		
http://purl.obolibrary.org/obo/GO_0046326	positive regulation of D-glucose import across plasma membrane	http://purl.obolibrary.org/obo/GO_0010828	positive regulation of D-glucose transmembrane transport		
http://purl.obolibrary.org/obo/GO_0004566	beta-glucuronidase activity	http://purl.obolibrary.org/obo/GO_0046574	glucuronidase activity		
http://purl.obolibrary.org/obo/GO_0061179	negative regulation of insulin secretion involved in cellular response to glucose stimulus	http://purl.obolibrary.org/obo/GO_0061178	regulation of insulin secretion involved in cellular response to glucose stimulus		
http://purl.obolibrary.org/obo/GO_0046878	positive regulation of saliva secretion	http://purl.obolibrary.org/obo/GO_0051047	positive regulation of secretion		
http://purl.obolibrary.org/obo/GO_1905747	negative regulation of saliva secretion	http://purl.obolibrary.org/obo/GO_0060457	negative regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_0048242	epinephrine secretion	http://purl.obolibrary.org/obo/GO_0050432	catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0048714	positive regulation of oligodendrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045687	positive regulation of glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0048715	negative regulation of oligodendrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045686	negative regulation of glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0051886	negative regulation of timing of anagen	http://purl.obolibrary.org/obo/GO_0051884	regulation of timing of anagen		
http://purl.obolibrary.org/obo/GO_0051885	positive regulation of timing of anagen	http://purl.obolibrary.org/obo/GO_0051884	regulation of timing of anagen		
http://purl.obolibrary.org/obo/GO_0048817	negative regulation of hair follicle maturation	http://purl.obolibrary.org/obo/GO_0051799	negative regulation of hair follicle development		
http://purl.obolibrary.org/obo/GO_0048818	positive regulation of hair follicle maturation	http://purl.obolibrary.org/obo/GO_0051798	positive regulation of hair follicle development		
http://purl.obolibrary.org/obo/GO_0051884	regulation of timing of anagen	http://purl.obolibrary.org/obo/GO_0048819	regulation of hair follicle maturation		
http://purl.obolibrary.org/obo/GO_0050709	negative regulation of protein secretion	http://purl.obolibrary.org/obo/GO_0051224	negative regulation of protein transport		
http://purl.obolibrary.org/obo/GO_0050714	positive regulation of protein secretion	http://purl.obolibrary.org/obo/GO_0051222	positive regulation of protein transport		
http://purl.obolibrary.org/obo/GO_0050796	regulation of insulin secretion	http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0046676	negative regulation of insulin secretion	http://purl.obolibrary.org/obo/GO_0050796	regulation of insulin secretion		
http://purl.obolibrary.org/obo/GO_1902721	negative regulation of prolactin secretion	http://purl.obolibrary.org/obo/GO_0090278	negative regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_1903061	positive regulation of protein lipidation	http://purl.obolibrary.org/obo/GO_1903059	regulation of protein lipidation		
http://purl.obolibrary.org/obo/GO_0060099	regulation of phagocytosis, engulfment	http://purl.obolibrary.org/obo/GO_1905153	regulation of membrane invagination		
http://purl.obolibrary.org/obo/GO_0060101	negative regulation of phagocytosis, engulfment	http://purl.obolibrary.org/obo/GO_1905154	negative regulation of membrane invagination		
http://purl.obolibrary.org/obo/GO_1903028	positive regulation of opsonization	http://purl.obolibrary.org/obo/GO_1903027	regulation of opsonization		
http://purl.obolibrary.org/obo/GO_0060100	positive regulation of phagocytosis, engulfment	http://purl.obolibrary.org/obo/GO_1905155	positive regulation of membrane invagination		
http://purl.obolibrary.org/obo/NBO_0000403	voluntary movement behavior	http://purl.obolibrary.org/obo/NBO_0000001	body part movement		
http://purl.obolibrary.org/obo/GO_0050907	detection of chemical stimulus involved in sensory perception	http://purl.obolibrary.org/obo/GO_0009593	detection of chemical stimulus		
http://purl.obolibrary.org/obo/GO_0050974	detection of mechanical stimulus involved in sensory perception	http://purl.obolibrary.org/obo/GO_0050982	detection of mechanical stimulus		
http://purl.obolibrary.org/obo/GO_0050911	detection of chemical stimulus involved in sensory perception of smell	http://purl.obolibrary.org/obo/GO_0050907	detection of chemical stimulus involved in sensory perception		
http://purl.obolibrary.org/obo/GO_0050968	detection of chemical stimulus involved in sensory perception of pain	http://purl.obolibrary.org/obo/GO_0050907	detection of chemical stimulus involved in sensory perception		
http://purl.obolibrary.org/obo/GO_0050912	detection of chemical stimulus involved in sensory perception of taste	http://purl.obolibrary.org/obo/GO_0050907	detection of chemical stimulus involved in sensory perception		
http://purl.obolibrary.org/obo/GO_0050956	electroception	http://purl.obolibrary.org/obo/GO_0050952	sensory perception of electrical stimulus		
http://purl.obolibrary.org/obo/GO_0050908	detection of light stimulus involved in visual perception	http://purl.obolibrary.org/obo/GO_0050962	detection of light stimulus involved in sensory perception		
http://purl.obolibrary.org/obo/GO_0050966	detection of mechanical stimulus involved in sensory perception of pain	http://purl.obolibrary.org/obo/GO_0050974	detection of mechanical stimulus involved in sensory perception		
http://purl.obolibrary.org/obo/GO_0050973	detection of mechanical stimulus involved in equilibrioception	http://purl.obolibrary.org/obo/GO_0050974	detection of mechanical stimulus involved in sensory perception		
http://purl.obolibrary.org/obo/GO_0050976	detection of mechanical stimulus involved in sensory perception of touch	http://purl.obolibrary.org/obo/GO_0050974	detection of mechanical stimulus involved in sensory perception		
http://purl.obolibrary.org/obo/GO_0050910	detection of mechanical stimulus involved in sensory perception of sound	http://purl.obolibrary.org/obo/GO_0050877	nervous system process		
http://purl.obolibrary.org/obo/GO_0046579	positive regulation of Ras protein signal transduction	http://purl.obolibrary.org/obo/GO_0046578	regulation of Ras protein signal transduction		
http://purl.obolibrary.org/obo/GO_0046580	negative regulation of Ras protein signal transduction	http://purl.obolibrary.org/obo/GO_0046578	regulation of Ras protein signal transduction		
http://purl.obolibrary.org/obo/GO_0051460	negative regulation of corticotropin secretion	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0051461	positive regulation of corticotropin secretion	http://purl.obolibrary.org/obo/GO_0090277	positive regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0051463	negative regulation of cortisol secretion	http://purl.obolibrary.org/obo/GO_2000850	negative regulation of glucocorticoid secretion		
http://purl.obolibrary.org/obo/GO_0051464	positive regulation of cortisol secretion	http://purl.obolibrary.org/obo/GO_2000851	positive regulation of glucocorticoid secretion		
http://purl.obolibrary.org/obo/GO_0051589	negative regulation of neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0046928	regulation of neurotransmitter secretion	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0051590	positive regulation of neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0046929	negative regulation of neurotransmitter secretion	http://purl.obolibrary.org/obo/GO_1903531	negative regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_0051668	localization within membrane	http://purl.obolibrary.org/obo/GO_0051641	cellular localization		
http://purl.obolibrary.org/obo/GO_0045835	negative regulation of meiotic nuclear division	http://purl.obolibrary.org/obo/GO_0010948	negative regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_0045836	positive regulation of meiotic nuclear division	http://purl.obolibrary.org/obo/GO_0090068	positive regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_0051798	positive regulation of hair follicle development	http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0051799	negative regulation of hair follicle development	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0051930	regulation of sensory perception of pain	http://purl.obolibrary.org/obo/GO_0051931	regulation of sensory perception		
http://purl.obolibrary.org/obo/GO_0062033	positive regulation of mitotic sister chromatid segregation	http://purl.obolibrary.org/obo/GO_0033047	regulation of mitotic sister chromatid segregation		
http://purl.obolibrary.org/obo/GO_1904480	positive regulation of intestinal absorption	http://purl.obolibrary.org/obo/GO_1904478	regulation of intestinal absorption		
http://purl.obolibrary.org/obo/GO_2000294	positive regulation of defecation	http://purl.obolibrary.org/obo/GO_2000292	regulation of defecation		
http://purl.obolibrary.org/obo/GO_0060454	positive regulation of gastric acid secretion	http://purl.obolibrary.org/obo/GO_0060453	regulation of gastric acid secretion		
http://purl.obolibrary.org/obo/GO_0006885	regulation of pH	http://purl.obolibrary.org/obo/GO_0055080	monoatomic cation homeostasis		
http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process	http://purl.obolibrary.org/obo/GO_0065007	biological regulation		
http://purl.obolibrary.org/obo/GO_0065008	regulation of biological quality	http://purl.obolibrary.org/obo/GO_0065007	biological regulation		
http://purl.obolibrary.org/obo/GO_0065009	regulation of molecular function	http://purl.obolibrary.org/obo/GO_0065007	biological regulation		
http://purl.obolibrary.org/obo/GO_1904950	negative regulation of establishment of protein localization	http://purl.obolibrary.org/obo/GO_0048519	negative regulation of biological process		
http://purl.obolibrary.org/obo/GO_1904951	positive regulation of establishment of protein localization	http://purl.obolibrary.org/obo/GO_0048518	positive regulation of biological process		
http://purl.obolibrary.org/obo/GO_0051223	regulation of protein transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_1904363	negative regulation of calcitonin secretion	http://purl.obolibrary.org/obo/GO_1904362	regulation of calcitonin secretion		
http://purl.obolibrary.org/obo/GO_0090275	negative regulation of somatostatin secretion	http://purl.obolibrary.org/obo/GO_0090273	regulation of somatostatin secretion		
http://purl.obolibrary.org/obo/GO_0060125	negative regulation of growth hormone secretion	http://purl.obolibrary.org/obo/GO_0060123	regulation of growth hormone secretion		
http://purl.obolibrary.org/obo/GO_0070093	negative regulation of glucagon secretion	http://purl.obolibrary.org/obo/GO_0070092	regulation of glucagon secretion		
http://purl.obolibrary.org/obo/GO_1900078	positive regulation of cellular response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0046951	ketone body biosynthetic process	http://purl.obolibrary.org/obo/GO_1902224	ketone body metabolic process		
http://purl.obolibrary.org/obo/GO_0045843	negative regulation of striated muscle tissue development	http://purl.obolibrary.org/obo/GO_0048635	negative regulation of muscle organ development		
http://purl.obolibrary.org/obo/GO_0045844	positive regulation of striated muscle tissue development	http://purl.obolibrary.org/obo/GO_0048636	positive regulation of muscle organ development		
http://purl.obolibrary.org/obo/GO_1902668	negative regulation of axon guidance	http://purl.obolibrary.org/obo/GO_0010977	negative regulation of neuron projection development		
http://purl.obolibrary.org/obo/GO_1902669	positive regulation of axon guidance	http://purl.obolibrary.org/obo/GO_0010976	positive regulation of neuron projection development		
http://purl.obolibrary.org/obo/GO_0045893	positive regulation of DNA-templated transcription	http://purl.obolibrary.org/obo/GO_0006355	regulation of DNA-templated transcription		
http://purl.obolibrary.org/obo/GO_1903035	negative regulation of response to wounding	http://purl.obolibrary.org/obo/GO_0048585	negative regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_1903036	positive regulation of response to wounding	http://purl.obolibrary.org/obo/GO_0048584	positive regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0061041	regulation of wound healing	http://purl.obolibrary.org/obo/GO_1903034	regulation of response to wounding		
http://purl.obolibrary.org/obo/GO_0106014	regulation of inflammatory response to wounding	http://purl.obolibrary.org/obo/GO_0050727	regulation of inflammatory response		
http://purl.obolibrary.org/obo/GO_0061045	negative regulation of wound healing	http://purl.obolibrary.org/obo/GO_0032102	negative regulation of response to external stimulus		
http://purl.obolibrary.org/obo/GO_0106015	negative regulation of inflammatory response to wounding	http://purl.obolibrary.org/obo/GO_0106014	regulation of inflammatory response to wounding		
http://purl.obolibrary.org/obo/GO_0090303	positive regulation of wound healing	http://purl.obolibrary.org/obo/GO_0061041	regulation of wound healing		
http://purl.obolibrary.org/obo/GO_0106016	positive regulation of inflammatory response to wounding	http://purl.obolibrary.org/obo/GO_0106014	regulation of inflammatory response to wounding		
http://purl.obolibrary.org/obo/GO_1903038	negative regulation of leukocyte cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0022408	negative regulation of cell-cell adhesion		
http://purl.obolibrary.org/obo/GO_1903039	positive regulation of leukocyte cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0022409	positive regulation of cell-cell adhesion		
http://purl.obolibrary.org/obo/GO_0050868	negative regulation of T cell activation	http://purl.obolibrary.org/obo/GO_0050863	regulation of T cell activation		
http://purl.obolibrary.org/obo/GO_0050870	positive regulation of T cell activation	http://purl.obolibrary.org/obo/GO_0050863	regulation of T cell activation		
http://purl.obolibrary.org/obo/GO_1903170	negative regulation of calcium ion transmembrane transport	http://purl.obolibrary.org/obo/GO_0051926	negative regulation of calcium ion transport		
http://purl.obolibrary.org/obo/GO_1904427	positive regulation of calcium ion transmembrane transport	http://purl.obolibrary.org/obo/GO_0051928	positive regulation of calcium ion transport		
http://purl.obolibrary.org/obo/GO_1901020	negative regulation of calcium ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0032413	negative regulation of ion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0045822	negative regulation of heart contraction	http://purl.obolibrary.org/obo/GO_0008016	regulation of heart contraction		
http://purl.obolibrary.org/obo/GO_0045823	positive regulation of heart contraction	http://purl.obolibrary.org/obo/GO_0008016	regulation of heart contraction		
http://purl.obolibrary.org/obo/GO_2001170	negative regulation of ATP biosynthetic process	http://purl.obolibrary.org/obo/GO_2001169	regulation of ATP biosynthetic process		
http://purl.obolibrary.org/obo/GO_2001171	positive regulation of ATP biosynthetic process	http://purl.obolibrary.org/obo/GO_2001169	regulation of ATP biosynthetic process		
http://purl.obolibrary.org/obo/GO_0051224	negative regulation of protein transport	http://purl.obolibrary.org/obo/GO_1903828	negative regulation of protein localization		
http://purl.obolibrary.org/obo/GO_0051222	positive regulation of protein transport	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_1905209	positive regulation of cardiocyte differentiation	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_2000725	regulation of cardiac muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051153	regulation of striated muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_2000726	negative regulation of cardiac muscle cell differentiation	http://purl.obolibrary.org/obo/GO_2000725	regulation of cardiac muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_2000727	positive regulation of cardiac muscle cell differentiation	http://purl.obolibrary.org/obo/GO_2000725	regulation of cardiac muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_2000738	positive regulation of stem cell differentiation	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_1905292	regulation of neural crest cell differentiation	http://purl.obolibrary.org/obo/GO_2000736	regulation of stem cell differentiation		
http://purl.obolibrary.org/obo/GO_1905293	negative regulation of neural crest cell differentiation	http://purl.obolibrary.org/obo/GO_1905292	regulation of neural crest cell differentiation		
http://purl.obolibrary.org/obo/GO_1905294	positive regulation of neural crest cell differentiation	http://purl.obolibrary.org/obo/GO_1905292	regulation of neural crest cell differentiation		
http://purl.obolibrary.org/obo/GO_2000835	negative regulation of androgen secretion	http://purl.obolibrary.org/obo/GO_2000834	regulation of androgen secretion		
http://purl.obolibrary.org/obo/GO_2000847	negative regulation of corticosteroid hormone secretion	http://purl.obolibrary.org/obo/GO_2000846	regulation of corticosteroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2000871	negative regulation of progesterone secretion	http://purl.obolibrary.org/obo/GO_2000870	regulation of progesterone secretion		
http://purl.obolibrary.org/obo/GO_2000836	positive regulation of androgen secretion	http://purl.obolibrary.org/obo/GO_2000834	regulation of androgen secretion		
http://purl.obolibrary.org/obo/GO_2000848	positive regulation of corticosteroid hormone secretion	http://purl.obolibrary.org/obo/GO_2000846	regulation of corticosteroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2000872	positive regulation of progesterone secretion	http://purl.obolibrary.org/obo/GO_2000870	regulation of progesterone secretion		
http://purl.obolibrary.org/obo/GO_0051462	regulation of cortisol secretion	http://purl.obolibrary.org/obo/GO_2000849	regulation of glucocorticoid secretion		
http://purl.obolibrary.org/obo/GO_2000850	negative regulation of glucocorticoid secretion	http://purl.obolibrary.org/obo/GO_2000847	negative regulation of corticosteroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2000851	positive regulation of glucocorticoid secretion	http://purl.obolibrary.org/obo/GO_2000848	positive regulation of corticosteroid hormone secretion		
http://purl.obolibrary.org/obo/GO_0002082	regulation of oxidative phosphorylation	http://purl.obolibrary.org/obo/GO_1903715	regulation of aerobic respiration		
http://purl.obolibrary.org/obo/GO_1903787	negative regulation of glutathione biosynthetic process	http://purl.obolibrary.org/obo/GO_0009890	negative regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_1903788	positive regulation of glutathione biosynthetic process	http://purl.obolibrary.org/obo/GO_0009891	positive regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0004363	glutathione synthase activity	http://purl.obolibrary.org/obo/GO_0016881	acid-amino acid ligase activity		
http://purl.obolibrary.org/obo/GO_1904099	negative regulation of protein O-linked glycosylation	http://purl.obolibrary.org/obo/GO_0010561	negative regulation of glycoprotein biosynthetic process		
http://purl.obolibrary.org/obo/GO_1904100	positive regulation of protein O-linked glycosylation	http://purl.obolibrary.org/obo/GO_0010560	positive regulation of glycoprotein biosynthetic process		
http://purl.obolibrary.org/obo/GO_1904171	negative regulation of bleb assembly	http://purl.obolibrary.org/obo/GO_0120033	negative regulation of plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_1904172	positive regulation of bleb assembly	http://purl.obolibrary.org/obo/GO_0120034	positive regulation of plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_1904364	positive regulation of calcitonin secretion	http://purl.obolibrary.org/obo/GO_0090277	positive regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_1904410	negative regulation of secretory granule organization	http://purl.obolibrary.org/obo/GO_0010639	negative regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_1904411	positive regulation of secretory granule organization	http://purl.obolibrary.org/obo/GO_0010638	positive regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_1904479	negative regulation of intestinal absorption	http://purl.obolibrary.org/obo/GO_0060457	negative regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_1904729	regulation of intestinal lipid absorption	http://purl.obolibrary.org/obo/GO_1904478	regulation of intestinal absorption		
http://purl.obolibrary.org/obo/GO_1904730	negative regulation of intestinal lipid absorption	http://purl.obolibrary.org/obo/GO_1904729	regulation of intestinal lipid absorption		
http://purl.obolibrary.org/obo/GO_1904731	positive regulation of intestinal lipid absorption	http://purl.obolibrary.org/obo/GO_1904729	regulation of intestinal lipid absorption		
http://purl.obolibrary.org/obo/GO_1904676	negative regulation of somatic stem cell division	http://purl.obolibrary.org/obo/GO_0051782	negative regulation of cell division		
http://purl.obolibrary.org/obo/GO_1904677	positive regulation of somatic stem cell division	http://purl.obolibrary.org/obo/GO_0051781	positive regulation of cell division		
http://purl.obolibrary.org/obo/GO_1905504	negative regulation of motile cilium assembly	http://purl.obolibrary.org/obo/GO_1902018	negative regulation of cilium assembly		
http://purl.obolibrary.org/obo/GO_1905505	positive regulation of motile cilium assembly	http://purl.obolibrary.org/obo/GO_0045724	positive regulation of cilium assembly		
http://purl.obolibrary.org/obo/GO_1905554	negative regulation of blood vessel branching	http://purl.obolibrary.org/obo/GO_0016525	negative regulation of angiogenesis		
http://purl.obolibrary.org/obo/GO_1905555	positive regulation of blood vessel branching	http://purl.obolibrary.org/obo/GO_0045766	positive regulation of angiogenesis		
http://purl.obolibrary.org/obo/GO_1905652	negative regulation of artery morphogenesis	http://purl.obolibrary.org/obo/GO_2000181	negative regulation of blood vessel morphogenesis		
http://purl.obolibrary.org/obo/GO_1905653	positive regulation of artery morphogenesis	http://purl.obolibrary.org/obo/GO_0051094	positive regulation of developmental process		
http://purl.obolibrary.org/obo/GO_1904675	regulation of somatic stem cell division	http://purl.obolibrary.org/obo/GO_2000035	regulation of stem cell division		
http://purl.obolibrary.org/obo/GO_1903999	negative regulation of eating behavior	http://purl.obolibrary.org/obo/GO_1903998	regulation of eating behavior		
http://purl.obolibrary.org/obo/GO_1904000	positive regulation of eating behavior	http://purl.obolibrary.org/obo/GO_1903998	regulation of eating behavior		
http://purl.obolibrary.org/obo/GO_2001223	negative regulation of neuron migration	http://purl.obolibrary.org/obo/GO_0030336	negative regulation of cell migration		
http://purl.obolibrary.org/obo/GO_2001224	positive regulation of neuron migration	http://purl.obolibrary.org/obo/GO_0030335	positive regulation of cell migration		
http://purl.obolibrary.org/obo/HP_0003993	Broad ulna	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		
http://purl.obolibrary.org/obo/HP_0003998	Constricted radial neck	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0004006	Round radial epiphyses	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0004007	Sclerotic radial epiphyses	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0004008	Sloping radial epiphyses	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010597	Abnormality of the distal radial epiphysis	http://purl.obolibrary.org/obo/HP_0003999	Abnormal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0005004	Flattened proximal radial epiphyses	http://purl.obolibrary.org/obo/HP_0010597	Abnormality of the distal radial epiphysis		
http://purl.obolibrary.org/obo/HP_0004023	Sloping radial metaphysis	http://purl.obolibrary.org/obo/HP_0004015	Abnormal radial metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0004031	Broad radial diaphysis	http://purl.obolibrary.org/obo/HP_0004027	Abnormality of radial diaphysis		
http://purl.obolibrary.org/obo/HP_0004033	Curved olecranon	http://purl.obolibrary.org/obo/HP_0004032	Abnormal olecranon morphology		
http://purl.obolibrary.org/obo/HP_0010600	Abnormal distal ulnar epiphysis morphology	http://purl.obolibrary.org/obo/HP_0004037	Abnormal ulnar epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0004043	Lytic defects of ulnar metaphysis	http://purl.obolibrary.org/obo/HP_0045039	Osteolysis involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0004045	Sloping ulnar metaphysis	http://purl.obolibrary.org/obo/HP_0004039	Abnormal ulnar metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0004241	Stippled calcification in carpal bones	http://purl.obolibrary.org/obo/HP_0009164	Abnormal calcification of the carpal bones		
http://purl.obolibrary.org/obo/HP_0004281	Irregular sclerosis of hand bones	http://purl.obolibrary.org/obo/HP_0004054	Sclerosis of hand bone		
http://purl.obolibrary.org/obo/HP_0004214	Curved phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009770	Curved phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009285	Curved phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009770	Curved phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009442	Curved phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009770	Curved phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009549	Curved phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009770	Curved phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009653	Curved thumb phalanx	http://purl.obolibrary.org/obo/HP_0009770	Curved phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0006263	Abnormality of the epiphyses of the 2nd finger	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0006264	Aplasia/Hypoplasia of the 2nd finger	http://purl.obolibrary.org/obo/HP_0006265	Aplasia/Hypoplasia of fingers		
http://purl.obolibrary.org/obo/HP_0009537	Flexion contracture of the 2nd finger	http://purl.obolibrary.org/obo/HP_0012785	Flexion contracture of finger		
http://purl.obolibrary.org/obo/HP_0009541	Abnormality of the phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0004100	Abnormal 2nd finger morphology		
http://purl.obolibrary.org/obo/HP_0009946	Polydactyly affecting the 2nd finger	http://purl.obolibrary.org/obo/HP_0006159	Mesoaxial hand polydactyly		
http://purl.obolibrary.org/obo/HP_0011803	Bifid nose	http://purl.obolibrary.org/obo/HP_0004122	Midline defect of the nose		
http://purl.obolibrary.org/obo/HP_0009316	Abnormal 3rd finger phalanx morphology	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009318	Aplasia/Hypoplasia of the 3rd finger	http://purl.obolibrary.org/obo/HP_0006265	Aplasia/Hypoplasia of fingers		
http://purl.obolibrary.org/obo/HP_0009319	Joint contracture of the 3rd finger	http://purl.obolibrary.org/obo/HP_0012785	Flexion contracture of finger		
http://purl.obolibrary.org/obo/HP_0009320	Abnormality of the epiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009958	Polydactyly affecting the 3rd finger	http://purl.obolibrary.org/obo/HP_0006159	Mesoaxial hand polydactyly		
http://purl.obolibrary.org/obo/HP_0009334	Abnormality of the epiphysis of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009430	Broad middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009844	Broad middle phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009432	Curved middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009846	Curved middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009433	Osteolytic defects of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009847	Osteolytic defects of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009436	Triangular shaped middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009850	Triangular shaped middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger		
http://purl.obolibrary.org/obo/HP_0009963	Duplication of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010008	Duplication of the middle phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009172	Abnormal 4th finger phalanx morphology	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009174	Abnormality of the epiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009272	Aplasia/Hypoplasia of the 4th finger	http://purl.obolibrary.org/obo/HP_0006265	Aplasia/Hypoplasia of fingers		
http://purl.obolibrary.org/obo/HP_0009274	Joint contracture of the 4th finger	http://purl.obolibrary.org/obo/HP_0012785	Flexion contracture of finger		
http://purl.obolibrary.org/obo/HP_0009971	Polydactyly affecting the 4th finger	http://purl.obolibrary.org/obo/HP_0006159	Mesoaxial hand polydactyly		
http://purl.obolibrary.org/obo/HP_0009297	Osteolytic defects of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009847	Osteolytic defects of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009303	Osteolytic defects of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009839	Osteolytic defects of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009312	Osteolytic defects of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009855	Osteolytic defects of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009477	Proximal fourth finger symphalangism	http://purl.obolibrary.org/obo/HP_0006152	Proximal finger symphalangism		
http://purl.obolibrary.org/obo/HP_0004216	Osteolytic defects of the phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009771	Osteolytic defects of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0004219	Abnormality of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0004213	Abnormal 5th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0004225	Abnormality of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0004213	Abnormal 5th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009150	Abnormality of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0004213	Abnormal 5th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009374	Broad phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009768	Broad phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009378	Triangular shaped phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009774	Triangular shaped phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0004226	Curved distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009838	Curved distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009173	Curved middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009846	Curved middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009229	Curved proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009854	Curved proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009170	Osteolytic defects of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009847	Osteolytic defects of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009230	Osteolytic defects of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009855	Osteolytic defects of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009242	Osteolytic defects of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009839	Osteolytic defects of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009177	Proximal fifth finger symphalangism	http://purl.obolibrary.org/obo/HP_0006152	Proximal finger symphalangism		
http://purl.obolibrary.org/obo/HP_0004224	Abnormality of the epiphysis of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger		
http://purl.obolibrary.org/obo/HP_0009169	Broad middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009844	Broad middle phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009182	Triangular shaped middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009850	Triangular shaped middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009989	Duplication of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010008	Duplication of the middle phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009206	Enlarged epiphysis of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010260	Enlarged epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009210	Pseudoepiphysis of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010264	Pseudoepiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009211	Small epiphysis of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010265	Small epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009212	Stippling of the epiphysis of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010266	Stippling of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009213	Triangular epiphysis of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010267	Triangular epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009198	Abnormality of the epiphysis of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger		
http://purl.obolibrary.org/obo/HP_0009240	Broad distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009836	Broad distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009245	Triangular shaped distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009875	Triangular shaped distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009988	Duplication of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009985	Duplication of phalanx of 5th finger		
http://purl.obolibrary.org/obo/HP_0011835	Absent scaphoid	http://purl.obolibrary.org/obo/HP_0004231	Carpal bone aplasia		
http://purl.obolibrary.org/obo/HP_0004244	Accessory scaphoid	http://purl.obolibrary.org/obo/HP_0004243	Abnormal scaphoid morphology		
http://purl.obolibrary.org/obo/HP_0004249	Accessory lunate	http://purl.obolibrary.org/obo/HP_0004248	Abnormal lunate bone morphology		
http://purl.obolibrary.org/obo/HP_0004242	Broad carpal bones	http://purl.obolibrary.org/obo/HP_0004237	Large carpal bones		
http://purl.obolibrary.org/obo/HP_0004261	Wide hamate bone	http://purl.obolibrary.org/obo/HP_0004260	Large hamate bone		
http://purl.obolibrary.org/obo/HP_0006202	Osteolysis of scaphoids	http://purl.obolibrary.org/obo/HP_0009699	Osteolytic defects of the hand bones		
http://purl.obolibrary.org/obo/HP_0045003	Abnormal ossification of the scaphoid	http://purl.obolibrary.org/obo/HP_0004243	Abnormal scaphoid morphology		
http://purl.obolibrary.org/obo/HP_0009997	Duplication of phalanx of hand	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009700	Finger symphalangism	http://purl.obolibrary.org/obo/HP_0100262	Synostosis involving digits		
http://purl.obolibrary.org/obo/HP_0004291	Stippled calcification of hand bones	http://purl.obolibrary.org/obo/HP_0004280	Irregular ossification of hand bones		
http://purl.obolibrary.org/obo/HP_0009193	Metacarpal pseudoepiphysis	http://purl.obolibrary.org/obo/HP_0005913	Abnormal metacarpal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010235	Pseudoepiphyses of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0005451	Decreased cranial base ossification	http://purl.obolibrary.org/obo/HP_0004331	Decreased skull ossification		
http://purl.obolibrary.org/obo/HP_0004365	Abnormal circulating tryptophan concentration	http://purl.obolibrary.org/obo/HP_0004338	Abnormal circulating aromatic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010893	Abnormal circulating phenylalanine concentration	http://purl.obolibrary.org/obo/HP_0004338	Abnormal circulating aromatic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010917	Abnormal circulating tyrosine concentration	http://purl.obolibrary.org/obo/HP_0004338	Abnormal circulating aromatic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0004341	Abnormality of vitamin B12 metabolism	http://purl.obolibrary.org/obo/HP_0004340	Abnormality of vitamin B metabolism		
http://purl.obolibrary.org/obo/HP_0100496	Abnormality of the vitamin B3 metabolism	http://purl.obolibrary.org/obo/HP_0004340	Abnormality of vitamin B metabolism		
http://purl.obolibrary.org/obo/HP_0008166	Decreased beta-galactosidase activity	http://purl.obolibrary.org/obo/HP_0004342	Abnormal galactosidase enyzme activity		
http://purl.obolibrary.org/obo/HP_0004349	Reduced bone mineral density	http://purl.obolibrary.org/obo/HP_0004348	Abnormality of bone mineral density		
http://purl.obolibrary.org/obo/HP_0011001	Increased bone mineral density	http://purl.obolibrary.org/obo/HP_0004348	Abnormality of bone mineral density		
http://purl.obolibrary.org/obo/HP_0033538	Aortic annulus calcification	http://purl.obolibrary.org/obo/HP_0004380	Aortic valve calcification		
http://purl.obolibrary.org/obo/HP_0033641	Aortic valve leaflet calcification	http://purl.obolibrary.org/obo/HP_0004380	Aortic valve calcification		
http://purl.obolibrary.org/obo/HP_0005136	Mitral annular calcification	http://purl.obolibrary.org/obo/HP_0004382	Mitral valve calcification		
http://purl.obolibrary.org/obo/HP_0004490	Calvarial hyperostosis	http://purl.obolibrary.org/obo/HP_0004437	Cranial hyperostosis		
http://purl.obolibrary.org/obo/HP_0009910	Aplasia of the middle ear ossicles	http://purl.obolibrary.org/obo/HP_0004452	Abnormality of the middle ear ossicles		
http://purl.obolibrary.org/obo/HP_0008421	Tall lumbar vertebral bodies	http://purl.obolibrary.org/obo/HP_0004570	Increased vertebral height		
http://purl.obolibrary.org/obo/HP_0008475	Hypoplastic sacral vertebrae	http://purl.obolibrary.org/obo/HP_0008417	Vertebral hypoplasia		
http://purl.obolibrary.org/obo/HP_0004605	Absent vertebral body mineralization	http://purl.obolibrary.org/obo/HP_0004599	Absent or minimally ossified vertebral bodies		
http://purl.obolibrary.org/obo/HP_0004606	Unossified vertebral bodies	http://purl.obolibrary.org/obo/HP_0004599	Absent or minimally ossified vertebral bodies		
http://purl.obolibrary.org/obo/HP_0005885	Absent ossification of cervical vertebral bodies	http://purl.obolibrary.org/obo/HP_0004599	Absent or minimally ossified vertebral bodies		
http://purl.obolibrary.org/obo/HP_0100856	Poorly ossified vertebrae	http://purl.obolibrary.org/obo/HP_0004599	Absent or minimally ossified vertebral bodies		
http://purl.obolibrary.org/obo/HP_0012792	Absent ossification of thoracic vertebral bodies	http://purl.obolibrary.org/obo/HP_0004599	Absent or minimally ossified vertebral bodies		
http://purl.obolibrary.org/obo/HP_0004414	Abnormality of the pulmonary artery	http://purl.obolibrary.org/obo/HP_0004930	Abnormality of the pulmonary vasculature		
http://purl.obolibrary.org/obo/HP_0011718	Abnormality of the pulmonary veins	http://purl.obolibrary.org/obo/HP_0004930	Abnormality of the pulmonary vasculature		
http://purl.obolibrary.org/obo/HP_0005303	Aortic arch calcification	http://purl.obolibrary.org/obo/HP_0004962	Thoracic aorta calcification		
http://purl.obolibrary.org/obo/HP_0004962	Thoracic aorta calcification	http://purl.obolibrary.org/obo/HP_0004963	Calcification of the aorta		
http://purl.obolibrary.org/obo/HP_0005186	Synovial lining hyperplasia	http://purl.obolibrary.org/obo/HP_0005262	Abnormal synovial membrane morphology		
http://purl.obolibrary.org/obo/HP_0012437	Abnormal gallbladder morphology	http://purl.obolibrary.org/obo/HP_0005264	Abnormality of the gallbladder		
http://purl.obolibrary.org/obo/HP_0012438	Abnormal gallbladder physiology	http://purl.obolibrary.org/obo/HP_0005264	Abnormality of the gallbladder		
http://purl.obolibrary.org/obo/HP_0033143	Jejunitis	http://purl.obolibrary.org/obo/HP_0005265	Abnormal jejunum morphology		
http://purl.obolibrary.org/obo/HP_0004431	Reduced circulating complement concentration	http://purl.obolibrary.org/obo/HP_0005339	Abnormality of complement system		
http://purl.obolibrary.org/obo/HP_0025575	Abnormal superior vena cava morphology	http://purl.obolibrary.org/obo/HP_0005345	Abnormal vena cava morphology		
http://purl.obolibrary.org/obo/HP_0025576	Abnormal inferior vena cava morphology	http://purl.obolibrary.org/obo/HP_0005345	Abnormal vena cava morphology		
http://purl.obolibrary.org/obo/HP_0005339	Abnormality of complement system	http://purl.obolibrary.org/obo/HP_0005368	Abnormality of humoral immunity		
http://purl.obolibrary.org/obo/HP_0005357	Defective B cell differentiation	http://purl.obolibrary.org/obo/HP_0005384	Defective B cell activation		
http://purl.obolibrary.org/obo/HP_0004430	Severe combined immunodeficiency	http://purl.obolibrary.org/obo/HP_0005387	Combined immunodeficiency		
http://purl.obolibrary.org/obo/HP_0005623	Absent ossification of calvaria	http://purl.obolibrary.org/obo/HP_0005474	Decreased calvarial ossification		
http://purl.obolibrary.org/obo/HP_0010564	Bifid epiglottis	http://purl.obolibrary.org/obo/HP_0005483	Abnormal epiglottis morphology		
http://purl.obolibrary.org/obo/HP_0010565	Aplasia/Hypoplasia of the Epiglottis	http://purl.obolibrary.org/obo/HP_0005483	Abnormal epiglottis morphology		
http://purl.obolibrary.org/obo/HP_0000253	Progressive microcephaly	http://purl.obolibrary.org/obo/HP_0005484	Secondary microcephaly		
http://purl.obolibrary.org/obo/HP_0005506	Chronic myelogenous leukemia	http://purl.obolibrary.org/obo/HP_0005558	Chronic leukemia		
http://purl.obolibrary.org/obo/HP_0012145	Abnormality of multiple cell lineages in the bone marrow	http://purl.obolibrary.org/obo/HP_0005561	Abnormal bone marrow cell morphology		
http://purl.obolibrary.org/obo/HP_0012130	Abnormal erythroid lineage cell morphology	http://purl.obolibrary.org/obo/HP_0005561	Abnormal bone marrow cell morphology		
http://purl.obolibrary.org/obo/HP_0012135	Abnormal granulocytopoietic cell morphology	http://purl.obolibrary.org/obo/HP_0005561	Abnormal bone marrow cell morphology		
http://purl.obolibrary.org/obo/HP_0006201	Hypermobility of distal interphalangeal joints	http://purl.obolibrary.org/obo/HP_0005620	Hypermobility of interphalangeal joints		
http://purl.obolibrary.org/obo/HP_0006426	Rudimentary to absent tibiae	http://purl.obolibrary.org/obo/HP_0005772	Aplasia/Hypoplasia of the tibia		
http://purl.obolibrary.org/obo/HP_0009556	Absent tibia	http://purl.obolibrary.org/obo/HP_0009817	Aplasia involving bones of the lower limbs		
http://purl.obolibrary.org/obo/HP_0004220	Short middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009370	Type A brachydactyly		
http://purl.obolibrary.org/obo/HP_0009295	Short middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009439	Short middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009461	Short 3rd finger		
http://purl.obolibrary.org/obo/HP_0009577	Short middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0010327	Flexion contracture of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010319	Abnormal second toe morphology		
http://purl.obolibrary.org/obo/HP_0010333	Flexion contracture of 3rd toe	http://purl.obolibrary.org/obo/HP_0010320	Abnormal third toe morphology		
http://purl.obolibrary.org/obo/HP_0010339	Flexion contracture of the 4th toe	http://purl.obolibrary.org/obo/HP_0010321	Abnormal fourth toe morphology		
http://purl.obolibrary.org/obo/HP_0009234	Fifth ray metacarpophalangeal synostosis	http://purl.obolibrary.org/obo/HP_0009708	Synostosis involving the 5th metacarpal		
http://purl.obolibrary.org/obo/HP_0009478	Fourth ray metacarpophalangeal synostosis	http://purl.obolibrary.org/obo/HP_0009707	Synostosis involving the 4th metacarpal		
http://purl.obolibrary.org/obo/HP_0009483	Third ray metacarpophalangeal synostosis	http://purl.obolibrary.org/obo/HP_0009706	Synostosis involving the 3rd metacarpal		
http://purl.obolibrary.org/obo/HP_0009598	Second ray metacarpophalangeal synostosis	http://purl.obolibrary.org/obo/HP_0009705	Synostosis involving the 2nd metacarpal		
http://purl.obolibrary.org/obo/HP_0009640	First ray metacarpophalangeal synostosis	http://purl.obolibrary.org/obo/HP_0009703	Synostosis involving the 1st metacarpal		
http://purl.obolibrary.org/obo/HP_0006146	Broad metacarpal epiphyses	http://purl.obolibrary.org/obo/HP_0005913	Abnormal metacarpal epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0009171	Triangular epiphyses of the metacarpals	http://purl.obolibrary.org/obo/HP_0010587	Triangular epiphysis		
http://purl.obolibrary.org/obo/HP_0009196	Absent metacarpal epiphyses	http://purl.obolibrary.org/obo/HP_0010577	Absent epiphyses		
http://purl.obolibrary.org/obo/HP_0010014	Abnormality of the epiphysis of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010026	Aplasia/Hypoplasia of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010009	Abnormal 1st metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010036	Aplasia/Hypoplasia of the 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0010010	Abnormal 2nd metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010039	Aplasia/Hypoplasia of the 3rd metacarpal	http://purl.obolibrary.org/obo/HP_0010011	Abnormal 3rd metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010042	Aplasia/Hypoplasia of the 4th metacarpal	http://purl.obolibrary.org/obo/HP_0010012	Abnormal 4th metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010045	Aplasia/Hypoplasia of the 5th metacarpal	http://purl.obolibrary.org/obo/HP_0010013	Abnormal 5th metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010048	Aplasia of metacarpal bones	http://purl.obolibrary.org/obo/HP_0005914	Aplasia/Hypoplasia involving the metacarpal bones		
http://purl.obolibrary.org/obo/HP_0009832	Abnormal distal phalanx morphology of finger	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0005920	Abnormal epiphysis morphology of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005924	Abnormal hand epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0006155	Long phalanx of finger	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0006261	Abnormal phalangeal joint morphology of the hand	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009770	Curved phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009771	Osteolytic defects of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009699	Osteolytic defects of the hand bones		
http://purl.obolibrary.org/obo/HP_0009774	Triangular shaped phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand	http://purl.obolibrary.org/obo/HP_0005918	Abnormal finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010228	Absent epiphyses of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010577	Absent epiphyses		
http://purl.obolibrary.org/obo/HP_0010238	Triangular epiphyses of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010587	Triangular epiphysis		
http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0004288	Pseudoepiphyses of hand bones	http://purl.obolibrary.org/obo/HP_0010584	Pseudoepiphyses		
http://purl.obolibrary.org/obo/HP_0006026	Rounded epiphyses	http://purl.obolibrary.org/obo/HP_0005924	Abnormal hand epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0004050	Absent hand	http://purl.obolibrary.org/obo/HP_6000918	Transverse terminal upper limb defect		
http://purl.obolibrary.org/obo/HP_0200055	Small hand	http://purl.obolibrary.org/obo/HP_0005927	Aplasia/hypoplasia involving bones of the hand		
http://purl.obolibrary.org/obo/HP_0010174	Broad phalanx of the toes	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0004237	Large carpal bones	http://purl.obolibrary.org/obo/HP_0006014	Abnormally shaped carpal bones		
http://purl.obolibrary.org/obo/HP_0010018	Enlarged epiphysis of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010271	Enlarged epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009482	Proximal third finger symphalangism	http://purl.obolibrary.org/obo/HP_0009445	Third finger symphalangism		
http://purl.obolibrary.org/obo/HP_0009579	Proximal second finger symphalangism	http://purl.obolibrary.org/obo/HP_0009545	Second finger symphalangism		
http://purl.obolibrary.org/obo/HP_0006127	Long proximal phalanx of finger	http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0006185	Enlarged proximal interphalangeal joints	http://purl.obolibrary.org/obo/HP_0006247	Enlarged interphalangeal joints		
http://purl.obolibrary.org/obo/HP_0006163	Enlarged metacarpophalangeal joints	http://purl.obolibrary.org/obo/HP_0006261	Abnormal phalangeal joint morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009237	Short 5th finger	http://purl.obolibrary.org/obo/HP_0009381	Short finger		
http://purl.obolibrary.org/obo/HP_0009488	Absent epiphyses of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010228	Absent epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009491	Enlarged epiphyses of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010231	Enlarged epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009495	Pseudoepiphysis of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010235	Pseudoepiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009496	Small epiphyses of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010236	Small epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009497	Stippling of the epiphyses of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010237	Epiphyseal stippling of finger phalanges		
http://purl.obolibrary.org/obo/HP_0009498	Triangular epiphyses of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010238	Triangular epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009499	Abnormality of the epiphysis of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009500	Abnormality of the epiphysis of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009501	Abnormality of the epiphysis of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009536	Short 2nd finger	http://purl.obolibrary.org/obo/HP_0009381	Short finger		
http://purl.obolibrary.org/obo/HP_0009380	Finger aplasia	http://purl.obolibrary.org/obo/HP_0006265	Aplasia/Hypoplasia of fingers		
http://purl.obolibrary.org/obo/HP_0006282	Generalized hypoplasia of dental enamel	http://purl.obolibrary.org/obo/HP_0006297	Enamel hypoplasia		
http://purl.obolibrary.org/obo/HP_0011074	Localized hypoplasia of dental enamel	http://purl.obolibrary.org/obo/HP_0006297	Enamel hypoplasia		
http://purl.obolibrary.org/obo/HP_0008783	Wide proximal femoral metaphysis	http://purl.obolibrary.org/obo/HP_0006431	Abnormal proximal femoral metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0004510	Pancreatic islet-cell hyperplasia	http://purl.obolibrary.org/obo/HP_0006476	Abnormality of the pancreatic islet cells		
http://purl.obolibrary.org/obo/HP_0006274	Reduced pancreatic beta cells	http://purl.obolibrary.org/obo/HP_0006476	Abnormality of the pancreatic islet cells		
http://purl.obolibrary.org/obo/HP_0006279	Beta-cell dysfunction	http://purl.obolibrary.org/obo/HP_0006476	Abnormality of the pancreatic islet cells		
http://purl.obolibrary.org/obo/HP_0009804	Tooth agenesis	http://purl.obolibrary.org/obo/HP_0006483	Abnormal number of teeth		
http://purl.obolibrary.org/obo/HP_0011069	Supernumerary tooth	http://purl.obolibrary.org/obo/HP_0006483	Abnormal number of teeth		
http://purl.obolibrary.org/obo/HP_0006413	Broad tibial metaphyses	http://purl.obolibrary.org/obo/HP_0006491	Abnormal tibial metaphysis morphology		
http://purl.obolibrary.org/obo/HP_0009817	Aplasia involving bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0009825	Aplasia involving bones of the extremities		
http://purl.obolibrary.org/obo/HP_0006503	Aplasia/hypoplasia involving forearm bones	http://purl.obolibrary.org/obo/HP_0040072	Abnormal forearm bone morphology		
http://purl.obolibrary.org/obo/HP_0009814	Upper limb peromelia	http://purl.obolibrary.org/obo/HP_0009828	Peromelia		
http://purl.obolibrary.org/obo/HP_0009823	Aplasia involving bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0009825	Aplasia involving bones of the extremities		
http://purl.obolibrary.org/obo/HP_0010590	Abnormality of the distal femoral epiphysis	http://purl.obolibrary.org/obo/HP_0006499	Abnormal femoral epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010593	Abnormal fibular epiphysis morphology	http://purl.obolibrary.org/obo/HP_0006500	Abnormal lower limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010631	Abnormality of the epiphyses of the feet	http://purl.obolibrary.org/obo/HP_0006500	Abnormal lower limb epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0003953	Absent forearm bone	http://purl.obolibrary.org/obo/HP_0006503	Aplasia/hypoplasia involving forearm bones		
http://purl.obolibrary.org/obo/HP_0006495	Aplasia/Hypoplasia of the ulna	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		
http://purl.obolibrary.org/obo/HP_0009822	Aplasia involving forearm bones	http://purl.obolibrary.org/obo/HP_0006503	Aplasia/hypoplasia involving forearm bones		
http://purl.obolibrary.org/obo/HP_0010591	Abnormality of the proximal tibial epiphysis	http://purl.obolibrary.org/obo/HP_0006508	Abnormality of tibial epiphyses		
http://purl.obolibrary.org/obo/HP_0010592	Abnormality of the distal tibial epiphysis	http://purl.obolibrary.org/obo/HP_0006508	Abnormality of tibial epiphyses		
http://purl.obolibrary.org/obo/HP_0002781	Upper airway obstruction	http://purl.obolibrary.org/obo/HP_0006536	Airway obstruction		
http://purl.obolibrary.org/obo/HP_0001397	Hepatic steatosis	http://purl.obolibrary.org/obo/HP_0006561	Lipid accumulation in hepatocytes		
http://purl.obolibrary.org/obo/HP_0004394	Multiple gastric polyps	http://purl.obolibrary.org/obo/HP_0006753	Neoplasm of the stomach		
http://purl.obolibrary.org/obo/HP_0006959	Proximal spinal muscular atrophy	http://purl.obolibrary.org/obo/HP_0007269	Spinal muscular atrophy		
http://purl.obolibrary.org/obo/HP_0009067	Progressive spinal muscular atrophy	http://purl.obolibrary.org/obo/HP_0007269	Spinal muscular atrophy		
http://purl.obolibrary.org/obo/HP_0040043	Hypoplasia of the eccrine sweat glands	http://purl.obolibrary.org/obo/HP_0007592	Aplasia/Hypoplasia of the eccrine sweat glands		
http://purl.obolibrary.org/obo/HP_0000966	Hypohidrosis	http://purl.obolibrary.org/obo/HP_0007550	Hypohidrosis or hyperhidrosis		
http://purl.obolibrary.org/obo/HP_0000975	Hyperhidrosis	http://purl.obolibrary.org/obo/HP_0007550	Hypohidrosis or hyperhidrosis		
http://purl.obolibrary.org/obo/HP_0040042	Aplasia of the eccrine sweat glands	http://purl.obolibrary.org/obo/HP_0011136	Aplasia of the sweat glands		
http://purl.obolibrary.org/obo/HP_0040030	Chorioretinal hypopigmentation	http://purl.obolibrary.org/obo/HP_0007661	Abnormality of chorioretinal pigmentation		
http://purl.obolibrary.org/obo/HP_0040031	Chorioretinal hyperpigmentation	http://purl.obolibrary.org/obo/HP_0007661	Abnormality of chorioretinal pigmentation		
http://purl.obolibrary.org/obo/HP_0000646	Amblyopia	http://purl.obolibrary.org/obo/HP_0007663	Reduced visual acuity		
http://purl.obolibrary.org/obo/HP_0000618	Blindness	http://purl.obolibrary.org/obo/HP_0007663	Reduced visual acuity		
http://purl.obolibrary.org/obo/HP_0000616	Miosis	http://purl.obolibrary.org/obo/HP_0007686	Abnormal pupillary function		
http://purl.obolibrary.org/obo/HP_0007988	Macular hypopigmentation	http://purl.obolibrary.org/obo/HP_0008002	Abnormal macular pigmentation		
http://purl.obolibrary.org/obo/HP_0011509	Macular hyperpigmentation	http://purl.obolibrary.org/obo/HP_0008002	Abnormal macular pigmentation		
http://purl.obolibrary.org/obo/HP_0007656	Lacrimal gland aplasia	http://purl.obolibrary.org/obo/HP_0008038	Aplastic/hypoplastic lacrimal glands		
http://purl.obolibrary.org/obo/HP_0007732	Lacrimal gland hypoplasia	http://purl.obolibrary.org/obo/HP_0008038	Aplastic/hypoplastic lacrimal glands		
http://purl.obolibrary.org/obo/HP_0010728	Aplasia of the retina	http://purl.obolibrary.org/obo/HP_0008061	Aplasia/Hypoplasia of the retina		
http://purl.obolibrary.org/obo/HP_0007779	Anterior segment of eye aplasia	http://purl.obolibrary.org/obo/HP_0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye		
http://purl.obolibrary.org/obo/HP_0007707	Congenital aphakia	http://purl.obolibrary.org/obo/HP_6001302	Aphakia		
http://purl.obolibrary.org/obo/HP_0004704	Short fifth metatarsal	http://purl.obolibrary.org/obo/HP_0010743	Short metatarsal		
http://purl.obolibrary.org/obo/HP_0100028	Ectopic thyroid	http://purl.obolibrary.org/obo/HP_0008188	Thyroid dysgenesis		
http://purl.obolibrary.org/obo/HP_0008647	Pubertal developmental failure in females	http://purl.obolibrary.org/obo/HP_0008197	Absence of pubertal development		
http://purl.obolibrary.org/obo/HP_0011743	Adrenal gland agenesis	http://purl.obolibrary.org/obo/HP_0008216	Adrenal gland dysgenesis		
http://purl.obolibrary.org/obo/HP_0011424	Increased serum zinc	http://purl.obolibrary.org/obo/HP_0008277	Abnormal blood zinc concentration		
http://purl.obolibrary.org/obo/HP_0031831	Decreased serum zinc	http://purl.obolibrary.org/obo/HP_0008277	Abnormal blood zinc concentration		
http://purl.obolibrary.org/obo/HP_0012087	Abnormal mitochondrial shape	http://purl.obolibrary.org/obo/HP_0008322	Abnormal mitochondrial morphology		
http://purl.obolibrary.org/obo/HP_0012102	Abnormal mitochondrial number	http://purl.obolibrary.org/obo/HP_0008322	Abnormal mitochondrial morphology		
http://purl.obolibrary.org/obo/HP_0010058	Aplasia/Hypoplasia of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010173	Aplasia/Hypoplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010509	Aplasia of the tarsal bones	http://purl.obolibrary.org/obo/HP_0008363	Aplasia/Hypoplasia of the tarsal bones		
http://purl.obolibrary.org/obo/HP_0008103	Delayed tarsal ossification	http://purl.obolibrary.org/obo/HP_0008369	Abnormal tarsal ossification		
http://purl.obolibrary.org/obo/HP_0008108	Advanced tarsal ossification	http://purl.obolibrary.org/obo/HP_0008369	Abnormal tarsal ossification		
http://purl.obolibrary.org/obo/HP_0008134	Irregular tarsal ossification	http://purl.obolibrary.org/obo/HP_0008369	Abnormal tarsal ossification		
http://purl.obolibrary.org/obo/HP_0008087	Nonossified fifth metatarsal	http://purl.obolibrary.org/obo/HP_0008371	Abnormal metatarsal ossification		
http://purl.obolibrary.org/obo/HP_0008424	Hypoplastic 5th lumbar vertebrae	http://purl.obolibrary.org/obo/HP_0008417	Vertebral hypoplasia		
http://purl.obolibrary.org/obo/HP_0008434	Hypoplastic cervical vertebrae	http://purl.obolibrary.org/obo/HP_0011041	Aplasia/Hypoplasia of the cervical spine		
http://purl.obolibrary.org/obo/HP_0008447	Hypoplastic coccygeal vertebrae	http://purl.obolibrary.org/obo/HP_0008417	Vertebral hypoplasia		
http://purl.obolibrary.org/obo/HP_0004616	Cleft vertebral arch	http://purl.obolibrary.org/obo/HP_0008438	Vertebral arch anomaly		
http://purl.obolibrary.org/obo/HP_0009791	Bifid sacrum	http://purl.obolibrary.org/obo/HP_0008490	Sacral segmentation defect		
http://purl.obolibrary.org/obo/HP_0009743	Distichiasis	http://purl.obolibrary.org/obo/HP_0008496	Multiple rows of eyelashes		
http://purl.obolibrary.org/obo/HP_0008417	Vertebral hypoplasia	http://purl.obolibrary.org/obo/HP_0008515	Aplasia/Hypoplasia of the vertebrae		
http://purl.obolibrary.org/obo/HP_0008465	Absent vertebra	http://purl.obolibrary.org/obo/HP_0008515	Aplasia/Hypoplasia of the vertebrae		
http://purl.obolibrary.org/obo/HP_0008464	Absent spinous processes of lower thoracic and lumbar vertebrae	http://purl.obolibrary.org/obo/HP_0008516	Abnormality of the vertebral spinous processes		
http://purl.obolibrary.org/obo/HP_0004590	Hypoplastic sacrum	http://purl.obolibrary.org/obo/HP_0008517	Aplasia/Hypoplasia of the sacrum		
http://purl.obolibrary.org/obo/HP_0008436	Absent/hypoplastic coccyx	http://purl.obolibrary.org/obo/HP_0008517	Aplasia/Hypoplasia of the sacrum		
http://purl.obolibrary.org/obo/HP_0010305	Absence of the sacrum	http://purl.obolibrary.org/obo/HP_0008517	Aplasia/Hypoplasia of the sacrum		
http://purl.obolibrary.org/obo/HP_0011373	Incomplete partition of the cochlea	http://purl.obolibrary.org/obo/HP_0008554	Cochlear malformation		
http://purl.obolibrary.org/obo/HP_0000388	Otitis media	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0009797	Cholesteatoma	http://purl.obolibrary.org/obo/HP_0100799	Neoplasm of the middle ear		
http://purl.obolibrary.org/obo/HP_0004452	Abnormality of the middle ear ossicles	http://purl.obolibrary.org/obo/HP_0008609	Abnormal middle ear morphology		
http://purl.obolibrary.org/obo/HP_0008773	Aplasia/Hypoplasia of the middle ear	http://purl.obolibrary.org/obo/HP_0008771	Aplasia/Hypoplasia of the ear		
http://purl.obolibrary.org/obo/HP_0008697	Hypoplasia of the fallopian tube	http://purl.obolibrary.org/obo/HP_0008655	Aplasia/Hypoplasia of the fallopian tube		
http://purl.obolibrary.org/obo/HP_0008551	Microtia	http://purl.obolibrary.org/obo/HP_0008772	Aplasia/Hypoplasia of the external ear		
http://purl.obolibrary.org/obo/HP_0009892	Anotia	http://purl.obolibrary.org/obo/HP_0008772	Aplasia/Hypoplasia of the external ear		
http://purl.obolibrary.org/obo/HP_0011372	Aplasia of the inner ear	http://purl.obolibrary.org/obo/HP_0008774	Aplasia/Hypoplasia of the inner ear		
http://purl.obolibrary.org/obo/HP_0011399	Tibialis anterior muscle atrophy	http://purl.obolibrary.org/obo/HP_0008944	Distal lower limb amyotrophy		
http://purl.obolibrary.org/obo/HP_0030241	Hypoplasia of deltoid muscle	http://purl.obolibrary.org/obo/HP_0008952	Shoulder muscle hypoplasia		
http://purl.obolibrary.org/obo/HP_0011925	Decreased activity of mitochondrial ATP synthase complex	http://purl.obolibrary.org/obo/HP_0008972	Decreased activity of mitochondrial respiratory chain		
http://purl.obolibrary.org/obo/HP_0008984	Neck muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0025668	Abnormal neck morphology		
http://purl.obolibrary.org/obo/HP_0009100	Thick anterior alveolar ridges	http://purl.obolibrary.org/obo/HP_0009085	Alveolar ridge overgrowth		
http://purl.obolibrary.org/obo/HP_0008839	Hypoplastic pelvis	http://purl.obolibrary.org/obo/HP_0009103	Aplasia/Hypoplasia involving the pelvis		
http://purl.obolibrary.org/obo/HP_0008788	Delayed pubic bone ossification	http://purl.obolibrary.org/obo/HP_0009105	Abnormal ossification of the pubic bone		
http://purl.obolibrary.org/obo/HP_0008835	Multicentric femoral head ossification	http://purl.obolibrary.org/obo/HP_0009107	Abnormal ossification involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0100862	Aplasia of the femoral head	http://purl.obolibrary.org/obo/HP_0009108	Aplasia/Hypoplasia involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0100863	Aplasia of the femoral neck	http://purl.obolibrary.org/obo/HP_0009108	Aplasia/Hypoplasia involving the femoral head and neck		
http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0005453	Absent/hypoplastic paranasal sinuses	http://purl.obolibrary.org/obo/HP_0009120	Aplasia/Hypoplasia involving the sinuses		
http://purl.obolibrary.org/obo/HP_0000468	Increased adipose tissue around the neck	http://purl.obolibrary.org/obo/HP_0025668	Abnormal neck morphology		
http://purl.obolibrary.org/obo/HP_0008993	Increased intraabdominal fat	http://purl.obolibrary.org/obo/HP_0009126	Increased adipose tissue		
http://purl.obolibrary.org/obo/HP_0009011	Hypoplasia of serratus anterior muscle	http://purl.obolibrary.org/obo/HP_0009131	Abnormality of the musculature of the thorax		
http://purl.obolibrary.org/obo/HP_0009026	Hypoplasia of latissimus dorsi muscle	http://purl.obolibrary.org/obo/HP_0009131	Abnormality of the musculature of the thorax		
http://purl.obolibrary.org/obo/HP_0008076	Osteoporotic tarsals	http://purl.obolibrary.org/obo/HP_0009132	Abnormal tarsal bone mineral density		
http://purl.obolibrary.org/obo/HP_0009153	Abnormality of the epiphysis of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009192	Aplasia/Hypoplasia of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger		
http://purl.obolibrary.org/obo/HP_0009227	Broad proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009852	Broad proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009233	Triangular shaped proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009858	Triangular shaped proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009990	Duplication of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010006	Duplication of the proximal phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009382	Absent epiphyses of the 5th finger	http://purl.obolibrary.org/obo/HP_0010228	Absent epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009385	Enlarged epiphyses of the 5th finger	http://purl.obolibrary.org/obo/HP_0010231	Enlarged epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009389	Pseudoepiphyses of the 5th finger	http://purl.obolibrary.org/obo/HP_0010235	Pseudoepiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009390	Small epiphyses of the 5th finger	http://purl.obolibrary.org/obo/HP_0010236	Small epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009391	Stippling of the epiphyses of the 5th finger	http://purl.obolibrary.org/obo/HP_0010237	Epiphyseal stippling of finger phalanges		
http://purl.obolibrary.org/obo/HP_0009392	Triangular epiphyses of the 5th finger	http://purl.obolibrary.org/obo/HP_0010238	Triangular epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009154	Triangular epiphysis of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010278	Triangular epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009159	Small epiphysis of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010276	Small epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009200	Pseudoepiphysis of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010275	Pseudoepiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009201	Stippling of the epiphysis of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010277	Stippling of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009162	Absent middle phalanx of 5th finger	http://purl.obolibrary.org/obo/HP_0010239	Aplasia of the middle phalanx of the hand		
http://purl.obolibrary.org/obo/HP_0010025	Triangular epiphysis of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010014	Abnormality of the epiphysis of the 1st metacarpal		
http://purl.obolibrary.org/obo/HP_0004195	Osteolytic defects of the phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009771	Osteolytic defects of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009282	Abnormality of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009172	Abnormal 4th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009283	Abnormality of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009172	Abnormal 4th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009284	Abnormality of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009172	Abnormal 4th finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009404	Broad phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009768	Broad phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009407	Triangular shaped phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009774	Triangular shaped phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009972	Duplication of phalanx of 4th finger	http://purl.obolibrary.org/obo/HP_0009971	Polydactyly affecting the 4th finger		
http://purl.obolibrary.org/obo/HP_0009247	Abnormality of the epiphysis of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009248	Abnormality of the epiphysis of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009249	Abnormality of the epiphysis of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009393	Absent epiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0010228	Absent epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009396	Enlarged epiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0010231	Enlarged epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009400	Pseudoepiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0010235	Pseudoepiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009401	Small epiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0010236	Small epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009402	Stippling of the epiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0010237	Epiphyseal stippling of finger phalanges		
http://purl.obolibrary.org/obo/HP_0009403	Triangular epiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0010238	Triangular epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009184	Contracture of the distal interphalangeal joint of the 5th finger	http://purl.obolibrary.org/obo/HP_0009697	Contracture of the distal interphalangeal joint of the fingers		
http://purl.obolibrary.org/obo/HP_0009186	Contracture of the metacarpophalangeal joint of the 5th finger	http://purl.obolibrary.org/obo/HP_0009183	Joint contracture of the 5th finger		
http://purl.obolibrary.org/obo/HP_0009225	Aplasia of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010242	Aplasia of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009226	Short proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010241	Short proximal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0006179	Pseudoepiphyses of second metacarpal	http://purl.obolibrary.org/obo/HP_0010220	Abnormality of the epiphysis of the 2nd metacarpal		
http://purl.obolibrary.org/obo/HP_0010022	Pseudoepiphysis of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010275	Pseudoepiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010023	Small epiphysis of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010276	Small epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010024	Epiphyseal stippling of the first metacarpal	http://purl.obolibrary.org/obo/HP_0010277	Stippling of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010015	Absent epiphysis of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010268	Absent epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0004227	Short distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009882	Short distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009246	Aplasia of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009881	Aplasia of distal finger phalanx		
http://purl.obolibrary.org/obo/HP_0009214	Absent epiphysis of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010257	Absent epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009217	Enlarged epiphysis of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010260	Enlarged epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009221	Pseudoepiphysis of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010264	Pseudoepiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009222	Small epiphysis of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010265	Small epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009223	Stippling of the epiphysis of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010266	Stippling of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009224	Triangular epiphysis of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010267	Triangular epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009261	Absent epiphysis of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010268	Absent epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009264	Enlarged epiphysis of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010271	Enlarged epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009268	Pseudoepiphysis of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010275	Pseudoepiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009269	Small epiphysis of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010276	Small epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009270	Stippling of the epiphysis of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010277	Stippling of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009271	Triangular epiphysis of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010278	Triangular epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009253	Enlarged epiphysis of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010249	Enlarged epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009257	Pseudoepiphysis of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010253	Pseudoepiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009258	Small epiphysis of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010254	Small epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009259	Stippling of the epiphysis of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010255	Stippling of the epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009260	Triangular epiphysis of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010256	Triangular epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009280	Short 4th finger	http://purl.obolibrary.org/obo/HP_0009381	Short finger		
http://purl.obolibrary.org/obo/HP_0009275	Contracture of the distal interphalangeal joint of the 4th finger	http://purl.obolibrary.org/obo/HP_0009697	Contracture of the distal interphalangeal joint of the fingers		
http://purl.obolibrary.org/obo/HP_0009277	Contracture of the metacarpophalangeal joint of the 4th finger	http://purl.obolibrary.org/obo/HP_0009274	Joint contracture of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009290	Short distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009882	Short distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009301	Short proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010241	Short proximal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009291	Aplasia of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009881	Aplasia of distal finger phalanx		
http://purl.obolibrary.org/obo/HP_0009294	Absent middle phalanx of 4th finger	http://purl.obolibrary.org/obo/HP_0010239	Aplasia of the middle phalanx of the hand		
http://purl.obolibrary.org/obo/HP_0009298	Aplasia of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010242	Aplasia of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009286	Curved distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009838	Curved distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009289	Aplasia/Hypoplasia of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009292	Broad distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009836	Broad distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009306	Triangular shaped distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009875	Triangular shaped distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009975	Duplication of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009972	Duplication of phalanx of 4th finger		
http://purl.obolibrary.org/obo/HP_0009287	Curved middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009846	Curved middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009293	Broad middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009844	Broad middle phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009309	Triangular shaped middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009850	Triangular shaped middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009976	Duplication of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010008	Duplication of the middle phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009288	Curved proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009854	Curved proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009300	Aplasia/Hypoplasia of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger		
http://purl.obolibrary.org/obo/HP_0009310	Broad proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009852	Broad proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009315	Triangular shaped proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009858	Triangular shaped proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009977	Duplication of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010006	Duplication of the proximal phalanx of hand		
http://purl.obolibrary.org/obo/HP_0004172	Abnormality of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009316	Abnormal 3rd finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009357	Abnormality of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009316	Abnormal 3rd finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009358	Abnormality of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009316	Abnormal 3rd finger phalanx morphology		
http://purl.obolibrary.org/obo/HP_0009440	Broad phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009768	Broad phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009443	Osteolytic defects of the phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009771	Osteolytic defects of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009446	Triangular shaped phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009774	Triangular shaped phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009959	Duplication of phalanx of 3rd finger	http://purl.obolibrary.org/obo/HP_0009958	Polydactyly affecting the 3rd finger		
http://purl.obolibrary.org/obo/HP_0009461	Short 3rd finger	http://purl.obolibrary.org/obo/HP_0009381	Short finger		
http://purl.obolibrary.org/obo/HP_0009469	Contracture of the distal interphalangeal joint of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009697	Contracture of the distal interphalangeal joint of the fingers		
http://purl.obolibrary.org/obo/HP_0009470	Contracture of the metacarpophalangeal joint of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009319	Joint contracture of the 3rd finger		
http://purl.obolibrary.org/obo/HP_0009332	Abnormality of the epiphysis of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009333	Abnormality of the epiphysis of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009410	Absent epiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010228	Absent epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009413	Enlarged epiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010231	Enlarged epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009417	Pseudoepiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010235	Pseudoepiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009418	Small epiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010236	Small epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009419	Stippling of the epiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010237	Epiphyseal stippling of finger phalanges		
http://purl.obolibrary.org/obo/HP_0009420	Triangular epiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010238	Triangular epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009338	Enlarged epiphysis of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010249	Enlarged epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009342	Pseudoepiphysis of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010253	Pseudoepiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009343	Small epiphysis of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010254	Small epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009344	Stippling of the epiphysis of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010255	Stippling of the epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009345	Triangular epiphysis of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010256	Triangular epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009346	Absent epiphysis of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010268	Absent epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010271	Enlarged epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009353	Pseudoepiphysis of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010275	Pseudoepiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009354	Small epiphysis of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010276	Small epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009355	Stippling of the epiphysis of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010277	Stippling of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010278	Triangular epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009321	Absent epiphysis of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010257	Absent epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010260	Enlarged epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009328	Pseudoepiphysis of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010264	Pseudoepiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009329	Small epiphysis of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010265	Small epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009330	Stippling of the epiphysis of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010266	Stippling of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009331	Triangular epiphysis of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010267	Triangular epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger		
http://purl.obolibrary.org/obo/HP_0009422	Broad distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009836	Broad distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009424	Osteolytic defects of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009839	Osteolytic defects of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009427	Triangular shaped distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009875	Triangular shaped distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009428	Curved distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009838	Curved distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009962	Duplication of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009959	Duplication of phalanx of 3rd finger		
http://purl.obolibrary.org/obo/HP_0009450	Broad proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009852	Broad proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009452	Curved proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009854	Curved proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009453	Osteolytic defects of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009855	Osteolytic defects of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009456	Triangular shaped proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009858	Triangular shaped proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009457	Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger		
http://purl.obolibrary.org/obo/HP_0009964	Duplication of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010006	Duplication of the proximal phalanx of hand		
http://purl.obolibrary.org/obo/HP_0005819	Short middle phalanx of finger	http://purl.obolibrary.org/obo/HP_0009843	Aplasia/Hypoplasia of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009778	Short thumb	http://purl.obolibrary.org/obo/HP_0009601	Aplasia/Hypoplasia of the thumb		
http://purl.obolibrary.org/obo/HP_0009882	Short distal phalanx of finger	http://purl.obolibrary.org/obo/HP_0009835	Aplasia/Hypoplasia of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010241	Short proximal phalanx of finger	http://purl.obolibrary.org/obo/HP_0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009158	Enlarged epiphysis of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009385	Enlarged epiphyses of the 5th finger		
http://purl.obolibrary.org/obo/HP_0004180	Short distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009882	Short distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009429	Aplasia of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009881	Aplasia of distal finger phalanx		
http://purl.obolibrary.org/obo/HP_0009438	Absent middle phalanx of 3rd finger	http://purl.obolibrary.org/obo/HP_0010239	Aplasia of the middle phalanx of the hand		
http://purl.obolibrary.org/obo/HP_0009458	Aplasia of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010242	Aplasia of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009459	Short proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010241	Short proximal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009513	Absent epiphysis of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010257	Absent epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009524	Absent epiphysis of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010268	Absent epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009505	Enlarged epiphysis of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010249	Enlarged epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010260	Enlarged epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010271	Enlarged epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009509	Pseudoepiphysis of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010253	Pseudoepiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009520	Pseudoepiphysis of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010264	Pseudoepiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009531	Pseudoepiphysis of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010275	Pseudoepiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009510	Small epiphysis of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010254	Small epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009521	Small epiphysis of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010265	Small epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009532	Small epiphysis of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010276	Small epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009511	Stippling of the epiphysis of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010255	Stippling of the epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009522	Stippling of the epiphysis of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010266	Stippling of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009533	Stippling of the epiphysis of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010277	Stippling of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009512	Triangular epiphysis of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010256	Triangular epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009523	Triangular epiphysis of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010267	Triangular epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010278	Triangular epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009565	Aplasia of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009881	Aplasia of distal finger phalanx		
http://purl.obolibrary.org/obo/HP_0009576	Absent middle phalanx of 2nd finger	http://purl.obolibrary.org/obo/HP_0010239	Aplasia of the middle phalanx of the hand		
http://purl.obolibrary.org/obo/HP_0009596	Aplasia of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010242	Aplasia of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009566	Short distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009882	Short distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009597	Short proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010241	Short proximal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009538	Contracture of the distal interphalangeal joint of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009697	Contracture of the distal interphalangeal joint of the fingers		
http://purl.obolibrary.org/obo/HP_0009539	Contracture of the metacarpophalangeal joint of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009537	Flexion contracture of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009542	Abnormality of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009541	Abnormality of the phalanges of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009543	Abnormality of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009541	Abnormality of the phalanges of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009544	Abnormality of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009541	Abnormality of the phalanges of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009546	Triangular shaped phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009541	Abnormality of the phalanges of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009547	Broad phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009768	Broad phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009550	Osteolytic defects of the phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009771	Osteolytic defects of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009945	Duplication of phalanx of 2nd finger	http://purl.obolibrary.org/obo/HP_0009946	Polydactyly affecting the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009557	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009558	Broad distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009836	Broad distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009560	Curved distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009838	Curved distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009561	Osteolytic defects of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009839	Osteolytic defects of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009564	Triangular shaped distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009875	Triangular shaped distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009948	Duplication of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009945	Duplication of phalanx of 2nd finger		
http://purl.obolibrary.org/obo/HP_0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009569	Broad middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009844	Broad middle phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009571	Curved middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009846	Curved middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009572	Osteolytic defects of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009847	Osteolytic defects of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009575	Triangular shaped middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009850	Triangular shaped middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009949	Duplication of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010008	Duplication of the middle phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009580	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger		
http://purl.obolibrary.org/obo/HP_0009581	Broad proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009852	Broad proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009583	Curved proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009854	Curved proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009584	Osteolytic defects of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009855	Osteolytic defects of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009587	Triangular shaped proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009858	Triangular shaped proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009947	Duplication of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010006	Duplication of the proximal phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009663	Abnormality of the epiphysis of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009686	Absent epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0010228	Absent epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009689	Enlarged thumb epiphysis	http://purl.obolibrary.org/obo/HP_0010231	Enlarged epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009693	Pseudoepiphysis of the thumb	http://purl.obolibrary.org/obo/HP_0010235	Pseudoepiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009694	Small thumb epiphysis	http://purl.obolibrary.org/obo/HP_0010236	Small epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009695	Stippling of thumb epiphysis	http://purl.obolibrary.org/obo/HP_0010237	Epiphyseal stippling of finger phalanges		
http://purl.obolibrary.org/obo/HP_0009696	Triangular epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0010238	Triangular epiphyses of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009624	Carpometacarpal thumb joint contracture	http://purl.obolibrary.org/obo/HP_0009600	Thumb contracture		
http://purl.obolibrary.org/obo/HP_0009625	Metacarpophalangeal thumb joint contracture	http://purl.obolibrary.org/obo/HP_0009600	Thumb contracture		
http://purl.obolibrary.org/obo/HP_0009659	Partial absence of thumb	http://purl.obolibrary.org/obo/HP_0009658	Aplasia/Hypoplasia of the phalanges of the thumb		
http://purl.obolibrary.org/obo/HP_0009617	Abnormality of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009602	Abnormality of thumb phalanx		
http://purl.obolibrary.org/obo/HP_0011304	Broad thumb	http://purl.obolibrary.org/obo/HP_0009768	Broad phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009618	Abnormality of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009602	Abnormality of thumb phalanx		
http://purl.obolibrary.org/obo/HP_0009654	Osteolytic defect of thumb phalanx	http://purl.obolibrary.org/obo/HP_0009771	Osteolytic defects of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009658	Aplasia/Hypoplasia of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009615	Complete duplication of the first metacarpal	http://purl.obolibrary.org/obo/HP_0010000	Complete duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009616	Bifid first metacarpal	http://purl.obolibrary.org/obo/HP_0010003	Partial duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009606	Complete duplication of distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010001	Complete duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009611	Bifid distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010004	Partial duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009608	Complete duplication of proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010002	Complete duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009614	Bifid proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010005	Partial duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009613	Duplication of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010008	Duplication of the middle phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009658	Aplasia/Hypoplasia of the phalanges of the thumb		
http://purl.obolibrary.org/obo/HP_0009632	Curved proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009854	Curved proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009633	Osteolytic defect of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009847	Osteolytic defects of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009635	Synostosis of thumb phalanx	http://purl.obolibrary.org/obo/HP_0009618	Abnormality of the proximal phalanx of the thumb		
http://purl.obolibrary.org/obo/HP_0009637	Absent proximal phalanx of thumb	http://purl.obolibrary.org/obo/HP_0010239	Aplasia of the middle phalanx of the hand		
http://purl.obolibrary.org/obo/HP_0009649	Aplasia of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009881	Aplasia of distal finger phalanx		
http://purl.obolibrary.org/obo/HP_0009650	Short distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009882	Short distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0009660	Short phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009778	Short thumb		
http://purl.obolibrary.org/obo/HP_0010035	Aplasia of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010242	Aplasia of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010034	Short 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010049	Short metacarpal		
http://purl.obolibrary.org/obo/HP_0009678	Enlarged epiphysis of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010249	Enlarged epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009682	Pseudoepiphysis of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010253	Pseudoepiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009683	Small epiphysis of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010254	Small epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009684	Stippling of the epiphysis of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010255	Stippling of the epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009685	Triangular epiphysis of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010256	Triangular epiphyses of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009664	Absent epiphysis of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010257	Absent epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009667	Enlarged epiphysis of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010260	Enlarged epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009671	Pseudoepiphysis of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010264	Pseudoepiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009672	Small epiphysis of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010265	Small epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009673	Stippling of the epiphysis of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010266	Stippling of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009674	Triangular epiphysis of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0010267	Triangular epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0005880	Metacarpophalangeal synostosis	http://purl.obolibrary.org/obo/HP_0011911	Abnormal metacarpophalangeal joint morphology		
http://purl.obolibrary.org/obo/HP_0009703	Synostosis involving the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010009	Abnormal 1st metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0009705	Synostosis involving the 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0010010	Abnormal 2nd metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0009706	Synostosis involving the 3rd metacarpal	http://purl.obolibrary.org/obo/HP_0010011	Abnormal 3rd metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0009707	Synostosis involving the 4th metacarpal	http://purl.obolibrary.org/obo/HP_0010012	Abnormal 4th metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0009708	Synostosis involving the 5th metacarpal	http://purl.obolibrary.org/obo/HP_0010013	Abnormal 5th metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0009802	Aplasia of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009823	Aplasia involving bones of the upper limbs		
http://purl.obolibrary.org/obo/HP_0009803	Short phalanx of finger	http://purl.obolibrary.org/obo/HP_0009767	Aplasia/Hypoplasia of the phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009844	Broad middle phalanx of finger	http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009852	Broad proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009846	Curved middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009854	Curved proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009847	Osteolytic defects of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009855	Osteolytic defects of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009850	Triangular shaped middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009858	Triangular shaped proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009834	Abnormal proximal phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0009826	Limb undergrowth	http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities		
http://purl.obolibrary.org/obo/HP_0009827	Amelia	http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities		
http://purl.obolibrary.org/obo/HP_0010884	Acromelia	http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities		
http://purl.obolibrary.org/obo/HP_0009828	Peromelia	http://purl.obolibrary.org/obo/HP_0009815	Aplasia/hypoplasia of the extremities		
http://purl.obolibrary.org/obo/HP_0006385	Short lower limbs	http://purl.obolibrary.org/obo/HP_0009816	Lower limb undergrowth		
http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010173	Aplasia/Hypoplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0005844	Rounded middle phalanx of finger	http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0012298	Long middle phalanx of finger	http://purl.obolibrary.org/obo/HP_0009833	Abnormal middle phalanx morphology of the hand		
http://purl.obolibrary.org/obo/HP_0010001	Complete duplication of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009998	Complete duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0010004	Partial duplication of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009999	Partial duplication of the phalanx of hand		
http://purl.obolibrary.org/obo/HP_0100134	Abnormality of the axillary hair	http://purl.obolibrary.org/obo/HP_0009888	Abnormality of secondary sexual hair		
http://purl.obolibrary.org/obo/HP_0009937	Facial hirsutism	http://purl.obolibrary.org/obo/HP_0009889	Localized hirsutism		
http://purl.obolibrary.org/obo/HP_0031604	Agenesis of the carotid canal	http://purl.obolibrary.org/obo/HP_0009911	Abnormal temporal bone morphology		
http://purl.obolibrary.org/obo/HP_0009943	Complete duplication of thumb phalanx	http://purl.obolibrary.org/obo/HP_0009998	Complete duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009944	Partial duplication of thumb phalanx	http://purl.obolibrary.org/obo/HP_0009999	Partial duplication of the phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009956	Partial duplication of the phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009999	Partial duplication of the phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009957	Complete duplication of the phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009998	Complete duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009954	Complete duplication of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010000	Complete duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009955	Partial duplication of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010003	Partial duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009950	Complete duplication of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010001	Complete duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009951	Partial duplication of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010004	Partial duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009952	Complete duplication of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010002	Complete duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009953	Partial duplication of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0010005	Partial duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009960	Complete duplication of the phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009998	Complete duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009961	Partial duplication of the phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009999	Partial duplication of the phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009965	Complete duplication of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010001	Complete duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009966	Complete duplication of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010002	Complete duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009967	Complete duplication of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010000	Complete duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009968	Partial duplication of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010004	Partial duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009969	Partial duplication of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010005	Partial duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009970	Partial duplication of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0010003	Partial duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009973	Complete duplication of the phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009998	Complete duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009974	Partial duplication of the phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009999	Partial duplication of the phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009978	Complete duplication of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010001	Complete duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009979	Complete duplication of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010002	Complete duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009980	Complete duplication of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010000	Complete duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009981	Partial duplication of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010004	Partial duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009982	Partial duplication of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010005	Partial duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009983	Partial duplication of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0010003	Partial duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009986	Complete duplication of the phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009998	Complete duplication of phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009987	Partial duplication of the phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009999	Partial duplication of the phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009991	Complete duplication of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010001	Complete duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009992	Complete duplication of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010002	Complete duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009993	Complete duplication of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010000	Complete duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009994	Partial duplication of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010004	Partial duplication of the distal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009995	Partial duplication of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010005	Partial duplication of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0009996	Partial duplication of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0010003	Partial duplication of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010000	Complete duplication of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010006	Duplication of the proximal phalanx of hand		
http://purl.obolibrary.org/obo/HP_0010002	Complete duplication of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010008	Duplication of the middle phalanx of hand		
http://purl.obolibrary.org/obo/HP_0010003	Partial duplication of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010006	Duplication of the proximal phalanx of hand		
http://purl.obolibrary.org/obo/HP_0010005	Partial duplication of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010008	Duplication of the middle phalanx of hand		
http://purl.obolibrary.org/obo/HP_0009609	Duplication of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010009	Abnormal 1st metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010029	Curved 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010009	Abnormal 1st metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010220	Abnormality of the epiphysis of the 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0010010	Abnormal 2nd metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010222	Abnormal 3rd metacarpal epiphysis morphology	http://purl.obolibrary.org/obo/HP_0010011	Abnormal 3rd metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010224	Abnormal 4th metacarpal epiphysis morphology	http://purl.obolibrary.org/obo/HP_0010012	Abnormal 4th metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0010226	Abnormal 5th metacarpal epiphysis morphology	http://purl.obolibrary.org/obo/HP_0010013	Abnormal 5th metacarpal morphology		
http://purl.obolibrary.org/obo/HP_0006040	Long second metacarpal	http://purl.obolibrary.org/obo/HP_0010036	Aplasia/Hypoplasia of the 2nd metacarpal		
http://purl.obolibrary.org/obo/HP_0010037	Aplasia of the 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0010048	Aplasia of metacarpal bones		
http://purl.obolibrary.org/obo/HP_0010038	Short 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0010049	Short metacarpal		
http://purl.obolibrary.org/obo/HP_0010040	Aplasia of the 3rd metacarpal	http://purl.obolibrary.org/obo/HP_0010048	Aplasia of metacarpal bones		
http://purl.obolibrary.org/obo/HP_0010041	Short 3rd metacarpal	http://purl.obolibrary.org/obo/HP_0010049	Short metacarpal		
http://purl.obolibrary.org/obo/HP_0010043	Aplasia of the 4th metacarpal	http://purl.obolibrary.org/obo/HP_0010048	Aplasia of metacarpal bones		
http://purl.obolibrary.org/obo/HP_0010044	Short 4th metacarpal	http://purl.obolibrary.org/obo/HP_0010049	Short metacarpal		
http://purl.obolibrary.org/obo/HP_0010046	Aplasia of the 5th metacarpal	http://purl.obolibrary.org/obo/HP_0010048	Aplasia of metacarpal bones		
http://purl.obolibrary.org/obo/HP_0010047	Short 5th metacarpal	http://purl.obolibrary.org/obo/HP_0010049	Short metacarpal		
http://purl.obolibrary.org/obo/HP_0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010194	Aplasia/Hypoplasia of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010086	Broad proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010204	Broad proximal phalanx of toe		
http://purl.obolibrary.org/obo/HP_0010088	Curved proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010206	Curved proximal toe phalanx		
http://purl.obolibrary.org/obo/HP_0010089	Osteolytic defects of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010198	Osteolytic defects of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010092	Triangular shaped proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010201	Triangular shaped middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010093	Duplication of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010202	Duplication of middle phalanx of toe		
http://purl.obolibrary.org/obo/HP_0010077	Broad distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010186	Broad distal phalanx of the toes		
http://purl.obolibrary.org/obo/HP_0010079	Curved distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010188	Curved distal toe phalanx		
http://purl.obolibrary.org/obo/HP_0010083	Triangular shaped distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010192	Triangular shaped distal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010084	Duplication of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010193	Duplication of distal phalanx of toe		
http://purl.obolibrary.org/obo/HP_0010067	Aplasia/hypoplasia of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010054	Abnormality of the first metatarsal bone		
http://purl.obolibrary.org/obo/HP_0010070	Curved 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010054	Abnormality of the first metatarsal bone		
http://purl.obolibrary.org/obo/HP_0010073	Synostosis involving the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010054	Abnormality of the first metatarsal bone		
http://purl.obolibrary.org/obo/HP_0010074	Triangular shaped 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010065	Triangular shaped phalanges of the hallux		
http://purl.obolibrary.org/obo/HP_0010105	Short first metatarsal	http://purl.obolibrary.org/obo/HP_0010743	Short metatarsal		
http://purl.obolibrary.org/obo/HP_0010113	Absent hallux epiphysis	http://purl.obolibrary.org/obo/HP_0010162	Absent epiphyses of the toes		
http://purl.obolibrary.org/obo/HP_0010116	Enlarged epiphyses of the hallux	http://purl.obolibrary.org/obo/HP_0010165	Enlarged epiphyses of the toes		
http://purl.obolibrary.org/obo/HP_0010120	Pseudoepiphyses of the hallux	http://purl.obolibrary.org/obo/HP_0010169	Pseudoepiphyses of the toes		
http://purl.obolibrary.org/obo/HP_0010121	Small epiphyses of the hallux	http://purl.obolibrary.org/obo/HP_0010170	Small epiphyses of the toes		
http://purl.obolibrary.org/obo/HP_0010122	Stippling of the epiphyses of the hallux	http://purl.obolibrary.org/obo/HP_0010171	Epiphyseal stippling of toe phalanges		
http://purl.obolibrary.org/obo/HP_0010123	Triangular epiphyses of the hallux	http://purl.obolibrary.org/obo/HP_0010172	Triangular epiphyses of the toes		
http://purl.obolibrary.org/obo/HP_0010124	Abnormality of the epiphysis of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010056	Abnormality of the epiphyses of the hallux		
http://purl.obolibrary.org/obo/HP_0010125	Abnormality of the epiphysis of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010056	Abnormality of the epiphyses of the hallux		
http://purl.obolibrary.org/obo/HP_0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010056	Abnormality of the epiphyses of the hallux		
http://purl.obolibrary.org/obo/HP_0010052	Abnormal morphology of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010053	Abnormality of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010059	Broad hallux phalanx	http://purl.obolibrary.org/obo/HP_0010174	Broad phalanx of the toes		
http://purl.obolibrary.org/obo/HP_0010061	Curved hallux phalanx	http://purl.obolibrary.org/obo/HP_0010176	Curved toe phalanx		
http://purl.obolibrary.org/obo/HP_0010065	Triangular shaped phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010180	Triangular shaped phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010066	Duplication of phalanx of hallux	http://purl.obolibrary.org/obo/HP_0010181	Duplication of phalanx of toe		
http://purl.obolibrary.org/obo/HP_0010110	Aplasia of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010111	Short phalanx of hallux	http://purl.obolibrary.org/obo/HP_0010746	Hypoplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010100	Complete duplication of hallux phalanx	http://purl.obolibrary.org/obo/HP_0010066	Duplication of phalanx of hallux		
http://purl.obolibrary.org/obo/HP_0010101	Partial duplication of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010066	Duplication of phalanx of hallux		
http://purl.obolibrary.org/obo/HP_0010104	Absent first metatarsal	http://purl.obolibrary.org/obo/HP_0010744	Absent metatarsal bone		
http://purl.obolibrary.org/obo/HP_0010098	Complete duplication of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010075	Duplication of the 1st metatarsal		
http://purl.obolibrary.org/obo/HP_0010099	Partial duplication of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010101	Partial duplication of the phalanges of the hallux		
http://purl.obolibrary.org/obo/HP_0010102	Aplasia of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010645	Aplasia of the distal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010103	Short distal phalanx of hallux	http://purl.obolibrary.org/obo/HP_0010111	Short phalanx of hallux		
http://purl.obolibrary.org/obo/HP_0010096	Complete duplication of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010100	Complete duplication of hallux phalanx		
http://purl.obolibrary.org/obo/HP_0010097	Partial duplication of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010101	Partial duplication of the phalanges of the hallux		
http://purl.obolibrary.org/obo/HP_0010106	Aplasia of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0100388	Aplasia of the proximal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010107	Short proximal phalanx of hallux	http://purl.obolibrary.org/obo/HP_0010111	Short phalanx of hallux		
http://purl.obolibrary.org/obo/HP_0010094	Complete duplication of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010100	Complete duplication of hallux phalanx		
http://purl.obolibrary.org/obo/HP_0010095	Partial duplication of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010101	Partial duplication of the phalanges of the hallux		
http://purl.obolibrary.org/obo/HP_0010328	Polydactyly affecting the 2nd toe	http://purl.obolibrary.org/obo/HP_0010319	Abnormal second toe morphology		
http://purl.obolibrary.org/obo/HP_0010334	Polydactyly affecting the 3rd toe	http://purl.obolibrary.org/obo/HP_0010320	Abnormal third toe morphology		
http://purl.obolibrary.org/obo/HP_0010340	Polydactyly affecting the 4th toe	http://purl.obolibrary.org/obo/HP_0010321	Abnormal fourth toe morphology		
http://purl.obolibrary.org/obo/HP_0010127	Absent epiphysis of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010138	Absent epiphysis of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010124	Abnormality of the epiphysis of the distal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010130	Enlarged epiphysis of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010141	Enlarged epiphysis of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010124	Abnormality of the epiphysis of the distal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010152	Enlarged epiphysis of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010125	Abnormality of the epiphysis of the 1st metatarsal		
http://purl.obolibrary.org/obo/HP_0010145	Pseudoepiphysis of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010124	Abnormality of the epiphysis of the distal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010135	Small epiphysis of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010146	Small epiphysis of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010124	Abnormality of the epiphysis of the distal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010136	Stippling of the epiphysis of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010147	Stippling of the epiphysis of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010124	Abnormality of the epiphysis of the distal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010137	Triangular epiphysis of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010148	Triangular epiphysis of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010124	Abnormality of the epiphysis of the distal phalanx of the hallux		
http://purl.obolibrary.org/obo/HP_0010149	Absent epiphysis of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010125	Abnormality of the epiphysis of the 1st metatarsal		
http://purl.obolibrary.org/obo/HP_0010156	Pseudoepiphysis of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010125	Abnormality of the epiphysis of the 1st metatarsal		
http://purl.obolibrary.org/obo/HP_0010157	Small epiphysis of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010125	Abnormality of the epiphysis of the 1st metatarsal		
http://purl.obolibrary.org/obo/HP_0010158	Stippling of the epiphysis of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010125	Abnormality of the epiphysis of the 1st metatarsal		
http://purl.obolibrary.org/obo/HP_0010159	Triangular epiphysis of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010125	Abnormality of the epiphysis of the 1st metatarsal		
http://purl.obolibrary.org/obo/HP_0010162	Absent epiphyses of the toes	http://purl.obolibrary.org/obo/HP_0010577	Absent epiphyses		
http://purl.obolibrary.org/obo/HP_0010169	Pseudoepiphyses of the toes	http://purl.obolibrary.org/obo/HP_0010584	Pseudoepiphyses		
http://purl.obolibrary.org/obo/HP_0010172	Triangular epiphyses of the toes	http://purl.obolibrary.org/obo/HP_0010587	Triangular epiphysis		
http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010319	Abnormal second toe morphology		
http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010320	Abnormal third toe morphology		
http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe	http://purl.obolibrary.org/obo/HP_0010321	Abnormal fourth toe morphology		
http://purl.obolibrary.org/obo/HP_0010176	Curved toe phalanx	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010180	Triangular shaped phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010181	Duplication of phalanx of toe	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010184	Abnormality of toe proximal phalanx	http://purl.obolibrary.org/obo/HP_0010161	Abnormal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology	http://purl.obolibrary.org/obo/HP_0010319	Abnormal second toe morphology		
http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010320	Abnormal third toe morphology		
http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010321	Abnormal fourth toe morphology		
http://purl.obolibrary.org/obo/HP_0100044	Absent epiphyses of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100055	Absent epiphyses of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100066	Absent epiphyses of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100077	Absent epiphyses of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100047	Enlarged epiphyses of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100058	Enlarged epiphyses of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100069	Enlarged epiphyses of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100080	Enlarged epiphyses of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100051	Pseudoepiphyses of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100062	Pseudoepiphyses of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100073	Pseudoepiphyses of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100084	Pseudoepiphyses of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100052	Small epiphyses of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100063	Small epiphyses of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100074	Small epiphyses of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100085	Small epiphyses of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100053	Stippling of the epiphyses of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100064	Stippling of the epiphyses of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100075	Stippling of the epiphyses of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100086	Stippling of the epiphyses of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100054	Triangular epiphyses of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100065	Triangular epiphyses of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100076	Triangular epiphyses of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100087	Triangular epiphyses of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010203	Aplasia/hypoplasia of proximal toe phalanx	http://purl.obolibrary.org/obo/HP_0010184	Abnormality of toe proximal phalanx		
http://purl.obolibrary.org/obo/HP_0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010371	Aplasia/Hypoplasia of the phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		
http://purl.obolibrary.org/obo/HP_0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010746	Hypoplasia of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010173	Aplasia/Hypoplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010186	Broad distal phalanx of the toes	http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010195	Broad middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010204	Broad proximal phalanx of toe	http://purl.obolibrary.org/obo/HP_0010184	Abnormality of toe proximal phalanx		
http://purl.obolibrary.org/obo/HP_0010348	Broad phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010360	Broad phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010372	Broad phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		
http://purl.obolibrary.org/obo/HP_0010384	Broad phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010188	Curved distal toe phalanx	http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010197	Curved middle phalanx of toe	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010206	Curved proximal toe phalanx	http://purl.obolibrary.org/obo/HP_0010184	Abnormality of toe proximal phalanx		
http://purl.obolibrary.org/obo/HP_0010350	Curved 2nd toe phalanx	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010362	Curved 3rd toe phalanx	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010374	Curved 4th toe phalanx	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		
http://purl.obolibrary.org/obo/HP_0010386	Curved 5th toe phalanx	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010192	Triangular shaped distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010201	Triangular shaped middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010210	Triangular shaped proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010184	Abnormality of toe proximal phalanx		
http://purl.obolibrary.org/obo/HP_0010354	Triangular shaped phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010366	Triangular shaped phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010378	Triangular shaped phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		
http://purl.obolibrary.org/obo/HP_0010390	Triangular shaped phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010355	Duplication of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010367	Duplication of phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010379	Duplication of phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		
http://purl.obolibrary.org/obo/HP_0010391	Duplication of the phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010193	Duplication of distal phalanx of toe	http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010356	Abnormality of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010368	Abnormality of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010380	Abnormality of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		
http://purl.obolibrary.org/obo/HP_0010392	Abnormality of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010182	Abnormal distal toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010202	Duplication of middle phalanx of toe	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010357	Abnormality of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010369	Abnormality of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010381	Abnormality of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010183	Abnormality of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010393	Abnormality of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010211	Duplication of proximal phalanx of toe	http://purl.obolibrary.org/obo/HP_0010184	Abnormality of toe proximal phalanx		
http://purl.obolibrary.org/obo/HP_0010358	Abnormal morphology of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010324	Abnormal 2nd toe phalanx morphology		
http://purl.obolibrary.org/obo/HP_0010370	Abnormal morphology of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	Abnormality of the phalanges of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010382	Abnormal morphology of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010336	Abnormality of the phalanges of the 4th toe		
http://purl.obolibrary.org/obo/HP_0010394	Abnormal morphology of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010342	Abnormality of the phalanges of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010414	Broad distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010356	Abnormality of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100431	Broad distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010368	Abnormality of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100432	Broad distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010380	Abnormality of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100433	Broad distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010392	Abnormality of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010416	Curved distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010356	Abnormality of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100449	Curved distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010368	Abnormality of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100450	Curved distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010380	Abnormality of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100451	Curved distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010392	Abnormality of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010421	Duplication of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010356	Abnormality of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010404	Aplasia/Hypoplasia of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010357	Abnormality of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010369	Abnormality of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100373	Aplasia/Hypoplasia of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010381	Abnormality of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010393	Abnormality of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010405	Broad middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010357	Abnormality of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100425	Broad middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010369	Abnormality of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100426	Broad middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010381	Abnormality of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100427	Broad middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010393	Abnormality of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010407	Curved middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010357	Abnormality of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100443	Curved middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010369	Abnormality of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100444	Curved middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010381	Abnormality of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100445	Curved middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010393	Abnormality of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100401	Duplication of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010369	Abnormality of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010395	Aplasia/hypoplasia of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010358	Abnormal morphology of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100375	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010370	Abnormal morphology of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100376	Aplasia/hypoplasia of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010382	Abnormal morphology of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100377	Aplasia/hypoplasia of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010394	Abnormal morphology of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010396	Broad proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010358	Abnormal morphology of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100428	Broad proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010370	Abnormal morphology of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100429	Broad proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010382	Abnormal morphology of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100430	Broad proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010394	Abnormal morphology of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010398	Curved proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010358	Abnormal morphology of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100446	Curved proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010370	Abnormal morphology of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100447	Curved proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010382	Abnormal morphology of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100448	Curved proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010394	Abnormal morphology of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100404	Duplication of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010370	Abnormal morphology of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0010213	Contracture of the tarsometatarsal joint of the hallux	http://purl.obolibrary.org/obo/HP_0010212	Flexion contracture of the hallux		
http://purl.obolibrary.org/obo/HP_0010214	Contracture of the interphalangeal joint of the hallux	http://purl.obolibrary.org/obo/HP_0010212	Flexion contracture of the hallux		
http://purl.obolibrary.org/obo/HP_0010215	Contractures of the metatarsophalangeal joint of the hallux	http://purl.obolibrary.org/obo/HP_0010212	Flexion contracture of the hallux		
http://purl.obolibrary.org/obo/HP_0010246	Absent epiphyses of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0010257	Absent epiphyses of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010268	Absent epiphyses of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010249	Enlarged epiphyses of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0010260	Enlarged epiphyses of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010271	Enlarged epiphyses of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010275	Pseudoepiphyses of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010254	Small epiphyses of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0010265	Small epiphyses of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010276	Small epiphyses of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010255	Stippling of the epiphyses of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0010266	Stippling of the epiphyses of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010277	Stippling of the epiphyses of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010256	Triangular epiphyses of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010243	Abnormality of the epiphyses of the distal phalanx of finger		
http://purl.obolibrary.org/obo/HP_0010267	Triangular epiphyses of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010244	Abnormality of the epiphyses of the middle phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010278	Triangular epiphyses of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010245	Abnormality of the epiphyses of the proximal phalanges of the hand		
http://purl.obolibrary.org/obo/HP_0010292	Absent uvula	http://purl.obolibrary.org/obo/HP_0010293	Aplasia/Hypoplasia of the uvula		
http://purl.obolibrary.org/obo/HP_0010812	Short uvula	http://purl.obolibrary.org/obo/HP_0010293	Aplasia/Hypoplasia of the uvula		
http://purl.obolibrary.org/obo/HP_0009744	Abnormal spinal dura mater morphology	http://purl.obolibrary.org/obo/HP_0010652	Abnormal dura mater morphology		
http://purl.obolibrary.org/obo/HP_0008986	Agenesis of the diaphragm	http://purl.obolibrary.org/obo/HP_0010315	Aplasia/Hypoplasia of the diaphragm		
http://purl.obolibrary.org/obo/HP_0040044	Hypoplasia of the diaphragm	http://purl.obolibrary.org/obo/HP_0010315	Aplasia/Hypoplasia of the diaphragm		
http://purl.obolibrary.org/obo/HP_0005199	Aplasia of the abdominal wall musculature	http://purl.obolibrary.org/obo/HP_0010318	Aplasia/Hypoplasia of the abdominal wall musculature		
http://purl.obolibrary.org/obo/HP_0005247	Hypoplasia of the abdominal wall musculature	http://purl.obolibrary.org/obo/HP_0010318	Aplasia/Hypoplasia of the abdominal wall musculature		
http://purl.obolibrary.org/obo/HP_0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010323	Abnormality of the epiphyses of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010430	Aplasia of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010431	Short phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010746	Hypoplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100352	Contracture of the distal interphalangeal joint of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010327	Flexion contracture of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100356	Contracture of the metatarsophalangeal joint of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010327	Flexion contracture of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010329	Abnormality of the epiphyses of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100362	Aplasia of the phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100366	Short phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010746	Hypoplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100353	Contracture of the distal interphalangeal joint of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010333	Flexion contracture of 3rd toe		
http://purl.obolibrary.org/obo/HP_0100357	Contracture of the metatarsophalangeal joint of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010333	Flexion contracture of 3rd toe		
http://purl.obolibrary.org/obo/HP_0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010335	Abnormality of the epiphyses of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100363	Aplasia of the phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100367	Short phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010746	Hypoplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100354	Contracture of the distal interphalangeal joint of the 4th toe	http://purl.obolibrary.org/obo/HP_0010339	Flexion contracture of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100358	Contracture of the metatarsophalangeal joint of the 4th toe	http://purl.obolibrary.org/obo/HP_0010339	Flexion contracture of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010341	Abnormality of the epiphyses of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100364	Aplasia of the phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100368	Short phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010746	Hypoplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100355	Contractures of the distal interphalangeal joint of the 5th toe	http://purl.obolibrary.org/obo/HP_0010345	Flexion contracture of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100359	Contracture of the metatarsophalangeal joint of the 5th toe	http://purl.obolibrary.org/obo/HP_0010345	Flexion contracture of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010399	Osteolytic defects of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010358	Abnormal morphology of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010408	Osteolytic defects of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010357	Abnormality of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010417	Osteolytic defects of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010356	Abnormality of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010402	Triangular shaped proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010358	Abnormal morphology of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010411	Triangular shaped middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010357	Abnormality of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010420	Triangular shaped distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010356	Abnormality of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010403	Duplication of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010358	Abnormal morphology of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010412	Duplication of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010357	Abnormality of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010428	Partial duplication of phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010355	Duplication of the phalanges of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010429	Complete duplication of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010355	Duplication of the phalanges of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100398	Duplication of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010368	Abnormality of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100399	Duplication of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010380	Abnormality of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100402	Duplication of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0010381	Abnormality of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100400	Duplication of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010392	Abnormality of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100406	Duplication of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0010394	Abnormal morphology of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010436	Aplasia of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010430	Aplasia of the phalanges of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010437	Short proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010431	Short phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010422	Complete duplication of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010429	Complete duplication of the phalanges of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010423	Partial duplication of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010428	Partial duplication of phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010434	Aplasia of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100388	Aplasia of the proximal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010435	Short middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010431	Short phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010426	Complete duplication of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010429	Complete duplication of the phalanges of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010427	Partial duplication of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010428	Partial duplication of phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010432	Absent distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010645	Aplasia of the distal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010433	Short distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010431	Short phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010424	Complete duplication of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010429	Complete duplication of the phalanges of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0010425	Partial duplication of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010428	Partial duplication of phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0008724	Hypoplasia of the ovary	http://purl.obolibrary.org/obo/HP_0010462	Aplasia/Hypoplasia of the ovary		
http://purl.obolibrary.org/obo/HP_0010463	Aplasia of the ovary	http://purl.obolibrary.org/obo/HP_0010462	Aplasia/Hypoplasia of the ovary		
http://purl.obolibrary.org/obo/HP_0005343	Hypoplasia of the bladder	http://purl.obolibrary.org/obo/HP_0010476	Aplasia/Hypoplasia of the bladder		
http://purl.obolibrary.org/obo/HP_0010477	Aplasia of the bladder	http://purl.obolibrary.org/obo/HP_0010476	Aplasia/Hypoplasia of the bladder		
http://purl.obolibrary.org/obo/HP_0012618	Urachal cyst	http://purl.obolibrary.org/obo/HP_0010478	Abnormality of the urachus		
http://purl.obolibrary.org/obo/HP_0006097	3-4 finger osseus syndactyly	http://purl.obolibrary.org/obo/HP_0010492	Osseous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0010710	3-5 finger syndactyly	http://purl.obolibrary.org/obo/HP_0010492	Osseous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0001233	2-3 finger cutaneous syndactyly	http://purl.obolibrary.org/obo/HP_0010554	Cutaneous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0010704	1-2 finger cutaneous syndactyly	http://purl.obolibrary.org/obo/HP_0010554	Cutaneous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0010705	4-5 finger cutaneous syndactyly	http://purl.obolibrary.org/obo/HP_0010554	Cutaneous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0010706	1-3 finger cutaneous syndactyly	http://purl.obolibrary.org/obo/HP_0010554	Cutaneous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0010707	1-4 finger cutaneous syndactyly	http://purl.obolibrary.org/obo/HP_0010554	Cutaneous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0010708	1-5 finger cutaneous syndactyly	http://purl.obolibrary.org/obo/HP_0010554	Cutaneous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0010709	2-4 finger cutaneous syndactyly	http://purl.obolibrary.org/obo/HP_0010554	Cutaneous finger syndactyly		
http://purl.obolibrary.org/obo/HP_0005349	Hypoplasia of the epiglottis	http://purl.obolibrary.org/obo/HP_0010565	Aplasia/Hypoplasia of the Epiglottis		
http://purl.obolibrary.org/obo/HP_0008753	Aplasia of the epiglottis	http://purl.obolibrary.org/obo/HP_0010565	Aplasia/Hypoplasia of the Epiglottis		
http://purl.obolibrary.org/obo/HP_0005093	Absent proximal radial epiphyses	http://purl.obolibrary.org/obo/HP_0010596	Abnormal proximal radial epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0006400	Absent knee epiphyses	http://purl.obolibrary.org/obo/HP_0034669	Abnormal knee morphology		
http://purl.obolibrary.org/obo/HP_0006398	Flat distal femoral epiphysis	http://purl.obolibrary.org/obo/HP_0030289	Flattened femoral epiphysis		
http://purl.obolibrary.org/obo/HP_0006438	Enlargement of the distal femoral epiphysis	http://purl.obolibrary.org/obo/HP_0010590	Abnormality of the distal femoral epiphysis		
http://purl.obolibrary.org/obo/HP_0010594	Abnormality of the proximal fibular epiphysis	http://purl.obolibrary.org/obo/HP_0010593	Abnormal fibular epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0010595	Abnormality of the distal fibular epiphysis	http://purl.obolibrary.org/obo/HP_0010593	Abnormal fibular epiphysis morphology		
http://purl.obolibrary.org/obo/HP_0005013	Dysplastic distal radial epiphyses	http://purl.obolibrary.org/obo/HP_0010597	Abnormality of the distal radial epiphysis		
http://purl.obolibrary.org/obo/HP_0006386	Hypoplastic distal radial epiphyses	http://purl.obolibrary.org/obo/HP_0010597	Abnormality of the distal radial epiphysis		
http://purl.obolibrary.org/obo/HP_0006449	Distal radial epiphyseal osteolysis	http://purl.obolibrary.org/obo/HP_0010597	Abnormality of the distal radial epiphysis		
http://purl.obolibrary.org/obo/HP_0010626	Anterior pituitary agenesis	http://purl.obolibrary.org/obo/HP_0010625	Anterior pituitary dysgenesis		
http://purl.obolibrary.org/obo/HP_0010627	Anterior pituitary hypoplasia	http://purl.obolibrary.org/obo/HP_0010625	Anterior pituitary dysgenesis		
http://purl.obolibrary.org/obo/HP_0100378	Absent distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100379	Aplasia of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100370	Aplasia/Hypoplasia of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100380	Aplasia of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0010653	Abnormality of the falx cerebri	http://purl.obolibrary.org/obo/HP_0010652	Abnormal dura mater morphology		
http://purl.obolibrary.org/obo/HP_0010654	Aplasia of the falx cerebri	http://purl.obolibrary.org/obo/HP_0010653	Abnormality of the falx cerebri		
http://purl.obolibrary.org/obo/HP_0004051	Advanced ossification of the hand bones	http://purl.obolibrary.org/obo/HP_0010660	Abnormal hand bone ossification		
http://purl.obolibrary.org/obo/HP_0004052	Delayed ossification of the hand bones	http://purl.obolibrary.org/obo/HP_0010660	Abnormal hand bone ossification		
http://purl.obolibrary.org/obo/HP_0004053	Dysharmonic maturation of the hand bones	http://purl.obolibrary.org/obo/HP_0200000	Dysharmonic skeletal maturation		
http://purl.obolibrary.org/obo/HP_0004274	Deficient ossification of hand bones	http://purl.obolibrary.org/obo/HP_0010660	Abnormal hand bone ossification		
http://purl.obolibrary.org/obo/HP_0004280	Irregular ossification of hand bones	http://purl.obolibrary.org/obo/HP_0010660	Abnormal hand bone ossification		
http://purl.obolibrary.org/obo/HP_0005557	Abnormal zygomatic arch morphology	http://purl.obolibrary.org/obo/HP_0010668	Abnormal zygomatic bone morphology		
http://purl.obolibrary.org/obo/HP_0000272	Malar flattening	http://purl.obolibrary.org/obo/HP_0010668	Abnormal zygomatic bone morphology		
http://purl.obolibrary.org/obo/HP_0004686	Short third metatarsal	http://purl.obolibrary.org/obo/HP_0010743	Short metatarsal		
http://purl.obolibrary.org/obo/HP_0010702	Increased circulating immunoglobulin concentration	http://purl.obolibrary.org/obo/HP_0010701	Abnormal circulating immunoglobulin concentration		
http://purl.obolibrary.org/obo/HP_0004313	Decreased circulating immunoglobulin concentration	http://purl.obolibrary.org/obo/HP_0010701	Abnormal circulating immunoglobulin concentration		
http://purl.obolibrary.org/obo/HP_0011361	Congenital abnormal hair pattern	http://purl.obolibrary.org/obo/HP_0010720	Abnormal hair pattern		
http://purl.obolibrary.org/obo/HP_0010606	Hordeolum	http://purl.obolibrary.org/obo/HP_0010732	Nodular changes affecting the eyelids		
http://purl.obolibrary.org/obo/HP_0004689	Short fourth metatarsal	http://purl.obolibrary.org/obo/HP_0040035	Abnormality of the fourth metatarsal bone		
http://purl.obolibrary.org/obo/HP_0008079	Absent fifth metatarsal	http://purl.obolibrary.org/obo/HP_0010744	Absent metatarsal bone		
http://purl.obolibrary.org/obo/HP_0100387	Aplasia of the middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100388	Aplasia of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010745	Aplasia of the phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0010756	Aplasia/Hypoplasia of the premaxilla	http://purl.obolibrary.org/obo/HP_0010758	Abnormality of the premaxilla		
http://purl.obolibrary.org/obo/HP_0430029	Hyperplasia of the premaxilla	http://purl.obolibrary.org/obo/HP_0010758	Abnormality of the premaxilla		
http://purl.obolibrary.org/obo/HP_0010776	Tracheobronchmegaly	http://purl.obolibrary.org/obo/HP_0010778	Tracheomegaly		
http://purl.obolibrary.org/obo/HP_0010790	Hypoplasia of the Leydig cells	http://purl.obolibrary.org/obo/HP_0010789	Abnormality of the Leydig cells		
http://purl.obolibrary.org/obo/HP_0010791	Hyperplasia of the Leydig cells	http://purl.obolibrary.org/obo/HP_0010789	Abnormality of the Leydig cells		
http://purl.obolibrary.org/obo/HP_3000061	Abnormality of infra-orbital nerve	http://purl.obolibrary.org/obo/HP_0010824	Abnormal fifth cranial nerve morphology		
http://purl.obolibrary.org/obo/HP_0004357	Abnormal circulating leucine concentration	http://purl.obolibrary.org/obo/HP_0010892	Abnormal circulating branched chain amino acid concentration		
http://purl.obolibrary.org/obo/HP_0008344	Elevated circulating branched chain amino acid concentration	http://purl.obolibrary.org/obo/HP_0010892	Abnormal circulating branched chain amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010914	Abnormal circulating valine concentration	http://purl.obolibrary.org/obo/HP_0010892	Abnormal circulating branched chain amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010895	Abnormal circulating glycine concentration	http://purl.obolibrary.org/obo/HP_0010894	Abnormal circulating serine family amino acid concentration		
http://purl.obolibrary.org/obo/HP_0012278	Abnormal circulating serine concentration	http://purl.obolibrary.org/obo/HP_0010894	Abnormal circulating serine family amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010903	Abnormal circulating glutamine concentration	http://purl.obolibrary.org/obo/HP_0010902	Abnormal circulating glutamine family amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010907	Abnormal circulating proline concentration	http://purl.obolibrary.org/obo/HP_0010902	Abnormal circulating glutamine family amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010910	Hypervalinemia	http://purl.obolibrary.org/obo/HP_0010914	Abnormal circulating valine concentration		
http://purl.obolibrary.org/obo/HP_0500132	Hypovalinemia	http://purl.obolibrary.org/obo/HP_0010914	Abnormal circulating valine concentration		
http://purl.obolibrary.org/obo/HP_0004363	Abnormal circulating calcium concentration	http://purl.obolibrary.org/obo/HP_0010927	Abnormal blood inorganic cation concentration		
http://purl.obolibrary.org/obo/HP_0004921	Abnormal magnesium concentration	http://purl.obolibrary.org/obo/HP_0010927	Abnormal blood inorganic cation concentration		
http://purl.obolibrary.org/obo/HP_0010927	Abnormal blood inorganic cation concentration	http://purl.obolibrary.org/obo/HP_0010929	Abnormal blood cation concentration		
http://purl.obolibrary.org/obo/HP_0010930	Abnormal blood monovalent inorganic cation concentration	http://purl.obolibrary.org/obo/HP_0010929	Abnormal blood cation concentration		
http://purl.obolibrary.org/obo/HP_0011030	Abnormal blood transition element cation concentration	http://purl.obolibrary.org/obo/HP_0010929	Abnormal blood cation concentration		
http://purl.obolibrary.org/obo/HP_0010931	Abnormal blood sodium concentration	http://purl.obolibrary.org/obo/HP_0010930	Abnormal blood monovalent inorganic cation concentration		
http://purl.obolibrary.org/obo/HP_0011042	Abnormal circulating potassium concentration	http://purl.obolibrary.org/obo/HP_0010930	Abnormal blood monovalent inorganic cation concentration		
http://purl.obolibrary.org/obo/HP_0010946	Dilatation of the renal pelvis	http://purl.obolibrary.org/obo/HP_0010944	Abnormal renal pelvis morphology		
http://purl.obolibrary.org/obo/HP_0010661	Absence of the third cerebral ventricle	http://purl.obolibrary.org/obo/HP_0010951	Abnormal third ventricle morphology		
http://purl.obolibrary.org/obo/HP_0010980	Hyperlipoproteinemia	http://purl.obolibrary.org/obo/HP_0010979	Abnormality of lipoprotein cholesterol concentration		
http://purl.obolibrary.org/obo/HP_0008169	Reduced factor VII activity	http://purl.obolibrary.org/obo/HP_0010988	Abnormality of the extrinsic pathway		
http://purl.obolibrary.org/obo/HP_0007096	Hypoplasia of the optic tract	http://purl.obolibrary.org/obo/HP_0011000	Aplasia/Hypoplasia of the optic tract		
http://purl.obolibrary.org/obo/HP_0010999	Aplasia of the optic tract	http://purl.obolibrary.org/obo/HP_0011000	Aplasia/Hypoplasia of the optic tract		
http://purl.obolibrary.org/obo/HP_0007378	Neoplasm of the gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0034930	Digestive system neoplasm		
http://purl.obolibrary.org/obo/HP_0012718	Abnormal gastrointestinal tract morphology	http://purl.obolibrary.org/obo/HP_0025033	Abnormal digestive system morphology		
http://purl.obolibrary.org/obo/HP_0008655	Aplasia/Hypoplasia of the fallopian tube	http://purl.obolibrary.org/obo/HP_0011027	Abnormal fallopian tube morphology		
http://purl.obolibrary.org/obo/HP_0011031	Abnormality of iron homeostasis	http://purl.obolibrary.org/obo/HP_0011030	Abnormal blood transition element cation concentration		
http://purl.obolibrary.org/obo/HP_0008277	Abnormal blood zinc concentration	http://purl.obolibrary.org/obo/HP_0011030	Abnormal blood transition element cation concentration		
http://purl.obolibrary.org/obo/HP_0012590	Abnormal urine output	http://purl.obolibrary.org/obo/HP_0011036	Abnormality of renal excretion		
http://purl.obolibrary.org/obo/HP_0100519	Anuria	http://purl.obolibrary.org/obo/HP_0011037	Decreased urine output		
http://purl.obolibrary.org/obo/HP_0008459	Cervical vertebral agenesis	http://purl.obolibrary.org/obo/HP_0011041	Aplasia/Hypoplasia of the cervical spine		
http://purl.obolibrary.org/obo/HP_0011113	Abnormality of cytokine secretion	http://purl.obolibrary.org/obo/HP_0011111	Abnormal immune serum protein physiology		
http://purl.obolibrary.org/obo/HP_0007387	Hypoplastic sweat glands	http://purl.obolibrary.org/obo/HP_0011135	Aplasia/Hypoplasia of the sweat glands		
http://purl.obolibrary.org/obo/HP_0007397	Axillary apocrine gland hypoplasia	http://purl.obolibrary.org/obo/HP_0011135	Aplasia/Hypoplasia of the sweat glands		
http://purl.obolibrary.org/obo/HP_0007592	Aplasia/Hypoplasia of the eccrine sweat glands	http://purl.obolibrary.org/obo/HP_0011135	Aplasia/Hypoplasia of the sweat glands		
http://purl.obolibrary.org/obo/HP_0011136	Aplasia of the sweat glands	http://purl.obolibrary.org/obo/HP_0011135	Aplasia/Hypoplasia of the sweat glands		
http://purl.obolibrary.org/obo/HP_0000625	Eyelid coloboma	http://purl.obolibrary.org/obo/HP_0011226	Aplasia/Hypoplasia of the eyelid		
http://purl.obolibrary.org/obo/HP_0011224	Ablepharon	http://purl.obolibrary.org/obo/HP_0011226	Aplasia/Hypoplasia of the eyelid		
http://purl.obolibrary.org/obo/HP_0011283	Abnormal metencephalon morphology	http://purl.obolibrary.org/obo/HP_0011282	Abnormal hindbrain morphology		
http://purl.obolibrary.org/obo/HP_0011377	Aplasia of the vestibule	http://purl.obolibrary.org/obo/HP_0011376	Abnormal morphology of the vestibule of the inner ear		
http://purl.obolibrary.org/obo/HP_0011378	Hypoplasia of the vestibule of the inner ear	http://purl.obolibrary.org/obo/HP_0011376	Abnormal morphology of the vestibule of the inner ear		
http://purl.obolibrary.org/obo/HP_0011379	Dilated vestibule of the inner ear	http://purl.obolibrary.org/obo/HP_0011376	Abnormal morphology of the vestibule of the inner ear		
http://purl.obolibrary.org/obo/HP_0011380	Abnormal semicircular canal morphology	http://purl.obolibrary.org/obo/HP_0011376	Abnormal morphology of the vestibule of the inner ear		
http://purl.obolibrary.org/obo/HP_0011387	Enlarged vestibular aqueduct	http://purl.obolibrary.org/obo/HP_0011376	Abnormal morphology of the vestibule of the inner ear		
http://purl.obolibrary.org/obo/HP_0011381	Aplasia of the semicircular canal	http://purl.obolibrary.org/obo/HP_0011380	Abnormal semicircular canal morphology		
http://purl.obolibrary.org/obo/HP_0011382	Hypoplasia of the semicircular canal	http://purl.obolibrary.org/obo/HP_0011380	Abnormal semicircular canal morphology		
http://purl.obolibrary.org/obo/HP_0011383	Enlarged semicircular canal	http://purl.obolibrary.org/obo/HP_0011380	Abnormal semicircular canal morphology		
http://purl.obolibrary.org/obo/HP_0004458	Dilatated internal auditory canal	http://purl.obolibrary.org/obo/HP_0011384	Abnormality of the internal auditory canal		
http://purl.obolibrary.org/obo/HP_0011385	Absent internal auditory canal	http://purl.obolibrary.org/obo/HP_0011384	Abnormality of the internal auditory canal		
http://purl.obolibrary.org/obo/HP_0011386	Narrow internal auditory canal	http://purl.obolibrary.org/obo/HP_0011384	Abnormality of the internal auditory canal		
http://purl.obolibrary.org/obo/HP_0011392	Abnormality of the vestibular nerve	http://purl.obolibrary.org/obo/HP_0011391	Abnormal inner ear nerve morphology		
http://purl.obolibrary.org/obo/HP_0011396	Abnormality of the cochlear nerve	http://purl.obolibrary.org/obo/HP_0011391	Abnormal inner ear nerve morphology		
http://purl.obolibrary.org/obo/HP_0011393	Aplasia of the vestibular nerve	http://purl.obolibrary.org/obo/HP_0011392	Abnormality of the vestibular nerve		
http://purl.obolibrary.org/obo/HP_0011394	Hypoplasia of the vestibular nerve	http://purl.obolibrary.org/obo/HP_0011392	Abnormality of the vestibular nerve		
http://purl.obolibrary.org/obo/HP_0008586	Hypoplasia of the cochlea	http://purl.obolibrary.org/obo/HP_0011395	Aplasia/Hypoplasia of the cochlea		
http://purl.obolibrary.org/obo/HP_0011375	Cochlear aplasia	http://purl.obolibrary.org/obo/HP_0011395	Aplasia/Hypoplasia of the cochlea		
http://purl.obolibrary.org/obo/HP_0005233	Hypoplasia of the gallbladder	http://purl.obolibrary.org/obo/HP_0011466	Aplasia/Hypoplasia of the gallbladder		
http://purl.obolibrary.org/obo/HP_0011467	Absent gallbladder	http://purl.obolibrary.org/obo/HP_0011466	Aplasia/Hypoplasia of the gallbladder		
http://purl.obolibrary.org/obo/HP_0011984	Atretic gallbladder	http://purl.obolibrary.org/obo/HP_0011466	Aplasia/Hypoplasia of the gallbladder		
http://purl.obolibrary.org/obo/HP_0011473	Villous atrophy	http://purl.obolibrary.org/obo/HP_0011472	Abnormal small intestinal villus morphology		
http://purl.obolibrary.org/obo/HP_0007734	Enlarged lacrimal glands	http://purl.obolibrary.org/obo/HP_0011482	Abnormal lacrimal gland morphology		
http://purl.obolibrary.org/obo/HP_0008038	Aplastic/hypoplastic lacrimal glands	http://purl.obolibrary.org/obo/HP_0011482	Abnormal lacrimal gland morphology		
http://purl.obolibrary.org/obo/HP_0100689	Decreased corneal thickness	http://purl.obolibrary.org/obo/HP_0011486	Abnormal corneal thickness		
http://purl.obolibrary.org/obo/HP_0011487	Increased corneal thickness	http://purl.obolibrary.org/obo/HP_0011486	Abnormal corneal thickness		
http://purl.obolibrary.org/obo/HP_0011489	Abnormal migration of corneal endothelium	http://purl.obolibrary.org/obo/HP_0011488	Abnormal corneal endothelium morphology		
http://purl.obolibrary.org/obo/HP_0011490	Abnormal Descemet membrane morphology	http://purl.obolibrary.org/obo/HP_0011488	Abnormal corneal endothelium morphology		
http://purl.obolibrary.org/obo/HP_0011563	Abnormal ventriculoarterial connection	http://purl.obolibrary.org/obo/HP_0011545	Abnormal connection of the cardiac segments		
http://purl.obolibrary.org/obo/HP_0011546	Abnormal atrioventricular connection	http://purl.obolibrary.org/obo/HP_0011545	Abnormal connection of the cardiac segments		
http://purl.obolibrary.org/obo/HP_0011629	Total absence of the pericardium	http://purl.obolibrary.org/obo/HP_0011628	Congenital defect of the pericardium		
http://purl.obolibrary.org/obo/HP_0011755	Ectopic posterior pituitary	http://purl.obolibrary.org/obo/HP_0011753	Posterior pituitary dysgenesis		
http://purl.obolibrary.org/obo/HP_0011756	Posterior pituitary agenesis	http://purl.obolibrary.org/obo/HP_0011753	Posterior pituitary dysgenesis		
http://purl.obolibrary.org/obo/HP_0011757	Posterior pituitary hypoplasia	http://purl.obolibrary.org/obo/HP_0011753	Posterior pituitary dysgenesis		
http://purl.obolibrary.org/obo/HP_0011768	Parathyroid dysgenesis	http://purl.obolibrary.org/obo/HP_0011766	Abnormal parathyroid morphology		
http://purl.obolibrary.org/obo/HP_0008208	Parathyroid hyperplasia	http://purl.obolibrary.org/obo/HP_0011766	Abnormal parathyroid morphology		
http://purl.obolibrary.org/obo/HP_0006611	Decreased number of sternal ossification centers	http://purl.obolibrary.org/obo/HP_0011863	Abnormal sternal ossification		
http://purl.obolibrary.org/obo/HP_0006642	Large sternal ossification centers	http://purl.obolibrary.org/obo/HP_0011863	Abnormal sternal ossification		
http://purl.obolibrary.org/obo/HP_0006643	Fused sternal ossification centers	http://purl.obolibrary.org/obo/HP_0011863	Abnormal sternal ossification		
http://purl.obolibrary.org/obo/HP_0011873	Abnormal platelet count	http://purl.obolibrary.org/obo/HP_0011875	Abnormal platelet morphology		
http://purl.obolibrary.org/obo/HP_0011876	Abnormal platelet volume	http://purl.obolibrary.org/obo/HP_0011875	Abnormal platelet morphology		
http://purl.obolibrary.org/obo/HP_0012524	Abnormal platelet shape	http://purl.obolibrary.org/obo/HP_0011875	Abnormal platelet morphology		
http://purl.obolibrary.org/obo/HP_0011877	Increased mean platelet volume	http://purl.obolibrary.org/obo/HP_0011876	Abnormal platelet volume		
http://purl.obolibrary.org/obo/HP_0005537	Decreased mean platelet volume	http://purl.obolibrary.org/obo/HP_0011876	Abnormal platelet volume		
http://purl.obolibrary.org/obo/HP_0008972	Decreased activity of mitochondrial respiratory chain	http://purl.obolibrary.org/obo/HP_0011922	Abnormal activity of mitochondrial respiratory chain		
http://purl.obolibrary.org/obo/HP_0040015	Increased activity of mitochondrial respiratory chain	http://purl.obolibrary.org/obo/HP_0011922	Abnormal activity of mitochondrial respiratory chain		
http://purl.obolibrary.org/obo/HP_0011991	Abnormal total neutrophil count	http://purl.obolibrary.org/obo/HP_0032309	Abnormal granulocyte count		
http://purl.obolibrary.org/obo/HP_0001738	Exocrine pancreatic insufficiency	http://purl.obolibrary.org/obo/HP_0012092	Abnormality of exocrine pancreas physiology		
http://purl.obolibrary.org/obo/HP_0006476	Abnormality of the pancreatic islet cells	http://purl.obolibrary.org/obo/HP_0012093	Abnormality of endocrine pancreas physiology		
http://purl.obolibrary.org/obo/HP_0100800	Aplasia/Hypoplasia of the pancreas	http://purl.obolibrary.org/obo/HP_0012094	Abnormal pancreas size		
http://purl.obolibrary.org/obo/HP_0006277	Pancreatic hyperplasia	http://purl.obolibrary.org/obo/HP_0012094	Abnormal pancreas size		
http://purl.obolibrary.org/obo/HP_0040013	Decreased mitochondrial number	http://purl.obolibrary.org/obo/HP_0012102	Abnormal mitochondrial number		
http://purl.obolibrary.org/obo/HP_0040014	Increased mitochondrial number	http://purl.obolibrary.org/obo/HP_0012102	Abnormal mitochondrial number		
http://purl.obolibrary.org/obo/HP_0012112	Abnormal circulating corticosterone level	http://purl.obolibrary.org/obo/HP_0012111	Abnormality of circulating glucocorticoid level		
http://purl.obolibrary.org/obo/HP_0032362	Increased circulating corticosterone level	http://purl.obolibrary.org/obo/HP_0012112	Abnormal circulating corticosterone level		
http://purl.obolibrary.org/obo/HP_0006562	Viral hepatitis	http://purl.obolibrary.org/obo/HP_0012115	Hepatitis		
http://purl.obolibrary.org/obo/HP_0034278	Multinucleated erythroblast	http://purl.obolibrary.org/obo/HP_0012130	Abnormal erythroid lineage cell morphology		
http://purl.obolibrary.org/obo/HP_0012132	Erythroid hyperplasia	http://purl.obolibrary.org/obo/HP_0012131	Abnormal number of erythroid precursors		
http://purl.obolibrary.org/obo/HP_0012133	Erythroid hypoplasia	http://purl.obolibrary.org/obo/HP_0012131	Abnormal number of erythroid precursors		
http://purl.obolibrary.org/obo/HP_0012137	Abnormal number of granulocyte precursors	http://purl.obolibrary.org/obo/HP_0012135	Abnormal granulocytopoietic cell morphology		
http://purl.obolibrary.org/obo/HP_0012138	Granulocytic hyperplasia	http://purl.obolibrary.org/obo/HP_0012137	Abnormal number of granulocyte precursors		
http://purl.obolibrary.org/obo/HP_0012139	Granulocytic hypoplasia	http://purl.obolibrary.org/obo/HP_0012137	Abnormal number of granulocyte precursors		
http://purl.obolibrary.org/obo/HP_0005513	Increased megakaryocyte count	http://purl.obolibrary.org/obo/HP_0012143	Abnormal megakaryocyte morphology		
http://purl.obolibrary.org/obo/HP_0005548	Megakaryocytopenia	http://purl.obolibrary.org/obo/HP_0012143	Abnormal megakaryocyte morphology		
http://purl.obolibrary.org/obo/HP_0040089	Abnormal total natural killer cell count	http://purl.obolibrary.org/obo/HP_0012176	Abnormal natural killer cell morphology		
http://purl.obolibrary.org/obo/HP_0012207	Reduced sperm motility	http://purl.obolibrary.org/obo/HP_0012206	Abnormal sperm motility		
http://purl.obolibrary.org/obo/HP_0005541	Congenital agranulocytosis	http://purl.obolibrary.org/obo/HP_0012234	Absence of circulating granulocytes		
http://purl.obolibrary.org/obo/HP_0011217	Abnormal shape of the occiput	http://purl.obolibrary.org/obo/HP_0012294	Abnormal occipital bone morphology		
http://purl.obolibrary.org/obo/HP_0012304	Hypoplastic aortic arch	http://purl.obolibrary.org/obo/HP_0012303	Abnormal aortic arch morphology		
http://purl.obolibrary.org/obo/HP_0012311	Increased total monocyte count	http://purl.obolibrary.org/obo/HP_0012310	Abnormal monocyte count		
http://purl.obolibrary.org/obo/HP_0012312	Decreased total monocyte count	http://purl.obolibrary.org/obo/HP_0012310	Abnormal monocyte count		
http://purl.obolibrary.org/obo/HP_0004360	Abnormality of acid-base homeostasis	http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis		
http://purl.obolibrary.org/obo/HP_0004370	Abnormality of temperature regulation	http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis		
http://purl.obolibrary.org/obo/HP_0011014	Abnormal glucose homeostasis	http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis		
http://purl.obolibrary.org/obo/HP_0011032	Abnormality of fluid regulation	http://purl.obolibrary.org/obo/HP_0012337	Abnormal homeostasis		
http://purl.obolibrary.org/obo/HP_0012346	Abnormal protein glycosylation	http://purl.obolibrary.org/obo/HP_0012345	Abnormal glycosylation		
http://purl.obolibrary.org/obo/HP_0012347	Abnormal protein N-linked glycosylation	http://purl.obolibrary.org/obo/HP_0012346	Abnormal protein glycosylation		
http://purl.obolibrary.org/obo/HP_0012358	Abnormal protein O-linked glycosylation	http://purl.obolibrary.org/obo/HP_0012346	Abnormal protein glycosylation		
http://purl.obolibrary.org/obo/HP_0000816	Abnormality of Krebs cycle metabolism	http://purl.obolibrary.org/obo/HP_0012379	Abnormal circulating enzyme concentration or activity		
http://purl.obolibrary.org/obo/HP_0003524	Decreased methionine synthase activity	http://purl.obolibrary.org/obo/HP_0012379	Abnormal circulating enzyme concentration or activity		
http://purl.obolibrary.org/obo/HP_0003643	Sulfite oxidase deficiency	http://purl.obolibrary.org/obo/HP_0012379	Abnormal circulating enzyme concentration or activity		
http://purl.obolibrary.org/obo/HP_0003649	Abnormal glycosidase enzyme activity	http://purl.obolibrary.org/obo/HP_0012379	Abnormal circulating enzyme concentration or activity		
http://purl.obolibrary.org/obo/HP_0500164	Abnormal blood carbon dioxide level	http://purl.obolibrary.org/obo/HP_0012415	Abnormal blood gas level		
http://purl.obolibrary.org/obo/HP_0500165	Abnormal blood oxygen level	http://purl.obolibrary.org/obo/HP_0012415	Abnormal blood gas level		
http://purl.obolibrary.org/obo/HP_0012430	Cerebral white matter hypoplasia	http://purl.obolibrary.org/obo/HP_0012429	Aplasia/Hypoplasia of the cerebral white matter		
http://purl.obolibrary.org/obo/HP_0200017	Cerebral white matter agenesis	http://purl.obolibrary.org/obo/HP_0012429	Aplasia/Hypoplasia of the cerebral white matter		
http://purl.obolibrary.org/obo/HP_0011747	Abnormality of the anterior pituitary	http://purl.obolibrary.org/obo/HP_0012503	Abnormal pituitary gland morphology		
http://purl.obolibrary.org/obo/HP_0011751	Abnormal posterior pituitary morphogenesis	http://purl.obolibrary.org/obo/HP_0012503	Abnormal pituitary gland morphology		
http://purl.obolibrary.org/obo/HP_0012504	Abnormal size of pituitary gland	http://purl.obolibrary.org/obo/HP_0012503	Abnormal pituitary gland morphology		
http://purl.obolibrary.org/obo/HP_0012505	Enlarged pituitary gland	http://purl.obolibrary.org/obo/HP_0012504	Abnormal size of pituitary gland		
http://purl.obolibrary.org/obo/HP_0012506	Small pituitary gland	http://purl.obolibrary.org/obo/HP_0012504	Abnormal size of pituitary gland		
http://purl.obolibrary.org/obo/HP_0410279	Atrophic pituitary gland	http://purl.obolibrary.org/obo/HP_0012506	Small pituitary gland		
http://purl.obolibrary.org/obo/HP_0002829	Arthralgia	http://purl.obolibrary.org/obo/HP_0012531	Pain		
http://purl.obolibrary.org/obo/HP_0012532	Chronic pain	http://purl.obolibrary.org/obo/HP_0012531	Pain		
http://purl.obolibrary.org/obo/HP_0012604	Hyponatriuria	http://purl.obolibrary.org/obo/HP_0012603	Abnormal urine sodium concentration		
http://purl.obolibrary.org/obo/HP_0012605	Hypernatriuria	http://purl.obolibrary.org/obo/HP_0012603	Abnormal urine sodium concentration		
http://purl.obolibrary.org/obo/HP_0012608	Hypermagnesiuria	http://purl.obolibrary.org/obo/HP_0012607	Abnormal urine magnesium concentration		
http://purl.obolibrary.org/obo/HP_0012609	Hypomagnesiuria	http://purl.obolibrary.org/obo/HP_0012607	Abnormal urine magnesium concentration		
http://purl.obolibrary.org/obo/HP_0003149	Hyperuricosuria	http://purl.obolibrary.org/obo/HP_0012610	Abnormality of urinary uric acid level		
http://purl.obolibrary.org/obo/HP_0012648	Decreased inflammatory response	http://purl.obolibrary.org/obo/HP_0012647	Abnormal inflammatory response		
http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response	http://purl.obolibrary.org/obo/HP_0012647	Abnormal inflammatory response		
http://purl.obolibrary.org/obo/HP_0100537	Fasciitis	http://purl.obolibrary.org/obo/HP_0100536	Abnormal fascia morphology		
http://purl.obolibrary.org/obo/HP_0045073	Serositis	http://purl.obolibrary.org/obo/HP_0012649	Increased inflammatory response		
http://purl.obolibrary.org/obo/HP_0012682	Pineal gland calcification	http://purl.obolibrary.org/obo/HP_0012681	Abnormal pineal morphology		
http://purl.obolibrary.org/obo/HP_0012684	Abnormal pineal volume	http://purl.obolibrary.org/obo/HP_0012681	Abnormal pineal morphology		
http://purl.obolibrary.org/obo/HP_0012685	Decreased pineal volume	http://purl.obolibrary.org/obo/HP_0012684	Abnormal pineal volume		
http://purl.obolibrary.org/obo/HP_0012686	Increased pineal volume	http://purl.obolibrary.org/obo/HP_0012684	Abnormal pineal volume		
http://purl.obolibrary.org/obo/HP_0100035	Phonic tics	http://purl.obolibrary.org/obo/HP_4000074	Involuntary vocalization		
http://purl.obolibrary.org/obo/HP_0100100	Absent epiphysis of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100111	Absent epiphysis of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100122	Absent epiphysis of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100103	Enlarged epiphysis of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100114	Enlarged epiphysis of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100125	Enlarged epiphysis of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100107	Pseudoepiphysis of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100108	Small epiphysis of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100119	Small epiphysis of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100130	Small epiphysis of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100109	Stippling of the epiphysis of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100120	Stippling of the epiphysis of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100131	Stippling of the epiphysis of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100110	Triangular epiphysis of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100121	Triangular epiphysis of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100132	Triangular epiphysis of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe		
http://purl.obolibrary.org/obo/HP_0100135	Absent epiphysis of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100146	Absent epiphysis of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100157	Absent epiphysis of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100138	Enlarged epiphysis of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100149	Enlarged epiphysis of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100160	Enlarged epiphysis of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100142	Pseudoepiphysis of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100153	Pseudoepiphysis of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100143	Small epiphysis of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100154	Small epiphysis of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100165	Small epiphysis of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100144	Stippling of the epiphysis of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100155	Stippling of the epiphysis of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100166	Stippling of the epiphysis of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100145	Triangular epiphysis of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100156	Triangular epiphysis of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100167	Triangular epiphysis of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100169	Absent epiphysis of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100180	Absent epiphysis of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100191	Absent epiphysis of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100172	Enlarged epiphysis of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100183	Enlarged epiphysis of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100194	Enlarged epiphysis of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100176	Pseudoepiphysis of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100177	Small epiphysis of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100188	Small epiphysis of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100199	Small epiphysis of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100178	Stippling of the epiphysis of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100189	Stippling of the epiphysis of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100200	Stippling of the epiphysis of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100179	Triangular epiphysis of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100190	Triangular epiphysis of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100201	Triangular epiphysis of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100202	Absent epiphysis of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100213	Absent epiphysis of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100224	Absent epiphysis of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100205	Enlarged epiphysis of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100216	Enlarged epiphysis of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100227	Enlarged epiphysis of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100209	Pseudoepiphysis of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100210	Small epiphysis of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100221	Small epiphysis of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100232	Small epiphysis of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100211	Stippling of the epiphysis of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100222	Stippling of the epiphysis of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100233	Stippling of the epiphysis of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100212	Triangular epiphysis of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100223	Triangular epiphysis of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100234	Triangular epiphysis of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0032523	Tendon thickening	http://purl.obolibrary.org/obo/HP_0100261	Abnormal tendon morphology		
http://purl.obolibrary.org/obo/HP_0100263	Distal symphalangism	http://purl.obolibrary.org/obo/HP_0100262	Synostosis involving digits		
http://purl.obolibrary.org/obo/HP_0100264	Proximal symphalangism	http://purl.obolibrary.org/obo/HP_0100262	Synostosis involving digits		
http://purl.obolibrary.org/obo/HP_0100303	Muscle fiber cytoplasmatic inclusion bodies	http://purl.obolibrary.org/obo/HP_0100299	Muscle fiber inclusion bodies		
http://purl.obolibrary.org/obo/HP_0100381	Absent middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100387	Aplasia of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100384	Absent proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100388	Aplasia of the proximal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100382	Aplasia of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100387	Aplasia of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100385	Aplasia of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100388	Aplasia of the proximal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100383	Aplasia of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100387	Aplasia of the middle phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100386	Aplasia of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100388	Aplasia of the proximal phalanges of the toes		
http://purl.obolibrary.org/obo/HP_0100389	Short distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100392	Short middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100395	Short proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100375	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100390	Short distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100370	Aplasia/Hypoplasia of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100393	Short middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100373	Aplasia/Hypoplasia of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100396	Short proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100376	Aplasia/hypoplasia of the proximal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100391	Short distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100394	Short middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100397	Short proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100377	Aplasia/hypoplasia of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100407	Complete duplication of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100398	Duplication of the distal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100408	Complete duplication of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100399	Duplication of the distal phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100409	Complete duplication of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100400	Duplication of the distal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100410	Complete duplication of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100401	Duplication of the middle phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100411	Complete duplication of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100402	Duplication of the middle phalanx of the 4th toe		
http://purl.obolibrary.org/obo/HP_0100413	Complete duplication of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100404	Duplication of the proximal phalanx of the 3rd toe		
http://purl.obolibrary.org/obo/HP_0100415	Complete duplication of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100406	Duplication of the proximal phalanx of the 5th toe		
http://purl.obolibrary.org/obo/HP_0100495	Mastocytosis	http://purl.obolibrary.org/obo/HP_0100494	Abnormal mast cell morphology		
http://purl.obolibrary.org/obo/HP_0100497	Vitamin B3 deficiency	http://purl.obolibrary.org/obo/HP_0100496	Abnormality of the vitamin B3 metabolism		
http://purl.obolibrary.org/obo/HP_0004340	Abnormality of vitamin B metabolism	http://purl.obolibrary.org/obo/HP_0100508	Abnormality of vitamin metabolism		
http://purl.obolibrary.org/obo/HP_0100509	Abnormality of vitamin C metabolism	http://purl.obolibrary.org/obo/HP_0100508	Abnormality of vitamin metabolism		
http://purl.obolibrary.org/obo/HP_0100511	Abnormality of vitamin D metabolism	http://purl.obolibrary.org/obo/HP_0100508	Abnormality of vitamin metabolism		
http://purl.obolibrary.org/obo/HP_0012568	Lower eyelid edema	http://purl.obolibrary.org/obo/HP_0100540	Palpebral edema		
http://purl.obolibrary.org/obo/HP_0012724	Upper eyelid edema	http://purl.obolibrary.org/obo/HP_0100540	Palpebral edema		
http://purl.obolibrary.org/obo/HP_0100557	Hemiatrophy of lower limb	http://purl.obolibrary.org/obo/HP_0100559	Lower limb asymmetry		
http://purl.obolibrary.org/obo/HP_0100558	Hemiatrophy of upper limb	http://purl.obolibrary.org/obo/HP_0100560	Upper limb asymmetry		
http://purl.obolibrary.org/obo/HP_0200053	Hemihypotrophy of lower limb	http://purl.obolibrary.org/obo/HP_0100556	Hemiatrophy		
http://purl.obolibrary.org/obo/HP_0004599	Absent or minimally ossified vertebral bodies	http://purl.obolibrary.org/obo/HP_0100569	Abnormally ossified vertebrae		
http://purl.obolibrary.org/obo/HP_0008071	Maternal hypertension	http://purl.obolibrary.org/obo/HP_0100603	Toxemia of pregnancy		
http://purl.obolibrary.org/obo/HP_0000276	Long face	http://purl.obolibrary.org/obo/HP_0100729	Large face		
http://purl.obolibrary.org/obo/HP_0000283	Broad face	http://purl.obolibrary.org/obo/HP_0100729	Large face		
http://purl.obolibrary.org/obo/HP_0030812	Enlarged tonsils	http://purl.obolibrary.org/obo/HP_0100765	Abnormality of the tonsils		
http://purl.obolibrary.org/obo/HP_0030813	Absent tonsils	http://purl.obolibrary.org/obo/HP_0100765	Abnormality of the tonsils		
http://purl.obolibrary.org/obo/HP_0011415	Calcified placenta	http://purl.obolibrary.org/obo/HP_0100767	Abnormal placenta morphology		
http://purl.obolibrary.org/obo/HP_0033042	Abnormal chorion morphology	http://purl.obolibrary.org/obo/HP_0100767	Abnormal placenta morphology		
http://purl.obolibrary.org/obo/HP_0004388	Microcolon	http://purl.obolibrary.org/obo/HP_0100811	Aplasia/Hypoplasia of the colon		
http://purl.obolibrary.org/obo/HP_0005210	Hypoplastic colon	http://purl.obolibrary.org/obo/HP_0100811	Aplasia/Hypoplasia of the colon		
http://purl.obolibrary.org/obo/HP_0008477	Poorly ossified cervical vertebrae	http://purl.obolibrary.org/obo/HP_0100856	Poorly ossified vertebrae		
http://purl.obolibrary.org/obo/HP_0100891	Bifid xiphoid process	http://purl.obolibrary.org/obo/HP_0100892	Abnormality of the xiphoid process		
http://purl.obolibrary.org/obo/HP_0100894	Broad xiphoid process	http://purl.obolibrary.org/obo/HP_0100892	Abnormality of the xiphoid process		
http://purl.obolibrary.org/obo/HP_0200012	Short corpus callosum	http://purl.obolibrary.org/obo/HP_0200011	Abnormal length of corpus callosum		
http://purl.obolibrary.org/obo/HP_0012319	Absent pigmentation of the abdomen	http://purl.obolibrary.org/obo/HP_0200098	Absent skin pigmentation		
http://purl.obolibrary.org/obo/HP_0012320	Absent pigmentation of the limbs	http://purl.obolibrary.org/obo/HP_0200098	Absent skin pigmentation		
http://purl.obolibrary.org/obo/NCBITaxon_10239	Viruses	http://purl.obolibrary.org/obo/NCBITaxon_1	root		
http://purl.obolibrary.org/obo/NCBITaxon_131567	cellular organisms	http://purl.obolibrary.org/obo/NCBITaxon_1	root		
http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae	http://purl.obolibrary.org/obo/NCBITaxon_10066	Muridae		
http://purl.obolibrary.org/obo/NCBITaxon_10045	Gerbillinae	http://purl.obolibrary.org/obo/NCBITaxon_10066	Muridae		
http://purl.obolibrary.org/obo/NCBITaxon_862507	Mus <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_10088	Mus <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_10116	Rattus norvegicus	http://purl.obolibrary.org/obo/NCBITaxon_10114	Rattus		
http://purl.obolibrary.org/obo/NCBITaxon_39030	Apodemus agrarius	http://purl.obolibrary.org/obo/NCBITaxon_10128	Apodemus		
http://purl.obolibrary.org/obo/NCBITaxon_400053	Sylvaemus group	http://purl.obolibrary.org/obo/NCBITaxon_10128	Apodemus		
http://purl.obolibrary.org/obo/NCBITaxon_10241	Chordopoxvirinae	http://purl.obolibrary.org/obo/NCBITaxon_10240	Poxviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus	http://purl.obolibrary.org/obo/NCBITaxon_10241	Chordopoxvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10257	Parapoxvirus	http://purl.obolibrary.org/obo/NCBITaxon_10241	Chordopoxvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10278	Molluscipoxvirus	http://purl.obolibrary.org/obo/NCBITaxon_10241	Chordopoxvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10245	Orthopoxvirus vaccinia	http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431481	Orthopoxvirus cowpox	http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431483	Orthopoxvirus monkeypox	http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431487	Orthopoxvirus variola	http://purl.obolibrary.org/obo/NCBITaxon_10242	Orthopoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431390	Parapoxvirus pseudocowpox	http://purl.obolibrary.org/obo/NCBITaxon_10257	Parapoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3431389	Parapoxvirus orf	http://purl.obolibrary.org/obo/NCBITaxon_10257	Parapoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3430922	Molluscipoxvirus molluscum	http://purl.obolibrary.org/obo/NCBITaxon_10278	Molluscipoxvirus		
http://purl.obolibrary.org/obo/NCBITaxon_10294	Simplexvirus	http://purl.obolibrary.org/obo/NCBITaxon_10293	Alphaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10319	Varicellovirus	http://purl.obolibrary.org/obo/NCBITaxon_10293	Alphaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_3050292	Simplexvirus humanalpha1	http://purl.obolibrary.org/obo/NCBITaxon_10294	Simplexvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050293	Simplexvirus humanalpha2	http://purl.obolibrary.org/obo/NCBITaxon_10294	Simplexvirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050294	Varicellovirus humanalpha3	http://purl.obolibrary.org/obo/NCBITaxon_10319	Varicellovirus		
http://purl.obolibrary.org/obo/NCBITaxon_40272	Roseolovirus	http://purl.obolibrary.org/obo/NCBITaxon_10357	Betaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10358	Cytomegalovirus	http://purl.obolibrary.org/obo/NCBITaxon_10357	Betaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10375	Lymphocryptovirus	http://purl.obolibrary.org/obo/NCBITaxon_10374	Gammaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_10379	Rhadinovirus	http://purl.obolibrary.org/obo/NCBITaxon_10374	Gammaherpesvirinae		
http://purl.obolibrary.org/obo/NCBITaxon_3050299	Lymphocryptovirus humangamma4	http://purl.obolibrary.org/obo/NCBITaxon_10375	Lymphocryptovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050300	Rhadinovirus humangamma8	http://purl.obolibrary.org/obo/NCBITaxon_10379	Rhadinovirus		
http://purl.obolibrary.org/obo/NCBITaxon_10405	Orthohepadnavirus	http://purl.obolibrary.org/obo/NCBITaxon_10404	Hepadnaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3431302	Orthohepadnavirus hominoidei	http://purl.obolibrary.org/obo/NCBITaxon_10405	Orthohepadnavirus		
http://purl.obolibrary.org/obo/NCBITaxon_7180	Haemagogus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_1056966	Aedini		
http://purl.obolibrary.org/obo/NCBITaxon_190765	Ochlerotatus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_1056966	Aedini		
http://purl.obolibrary.org/obo/NCBITaxon_945	Ehrlichia chaffeensis	http://purl.obolibrary.org/obo/NCBITaxon_106178	canis group		
http://purl.obolibrary.org/obo/NCBITaxon_951	Ehrlichia sennetsu	http://purl.obolibrary.org/obo/NCBITaxon_106178	canis group		
http://purl.obolibrary.org/obo/NCBITaxon_779	Ehrlichia ruminantium	http://purl.obolibrary.org/obo/NCBITaxon_106178	canis group		
http://purl.obolibrary.org/obo/NCBITaxon_948	Anaplasma phagocytophilum	http://purl.obolibrary.org/obo/NCBITaxon_106179	phagocytophilum group		
http://purl.obolibrary.org/obo/NCBITaxon_40119	Parvovirinae	http://purl.obolibrary.org/obo/NCBITaxon_10780	Parvoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3428066	Coltivirus dermacentoris	http://purl.obolibrary.org/obo/NCBITaxon_10911	Coltivirus		
http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus	http://purl.obolibrary.org/obo/NCBITaxon_11018	Togaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3426294	Alphavirus barmah	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426314	Alphavirus rossriver	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426322	Alphavirus venezuelan	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426323	Alphavirus western	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426312	Alphavirus onyong	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3426298	Alphavirus chikungunya	http://purl.obolibrary.org/obo/NCBITaxon_11019	Alphavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2846071	Rubivirus rubellae	http://purl.obolibrary.org/obo/NCBITaxon_11040	Rubivirus		
http://purl.obolibrary.org/obo/NCBITaxon_11095	Pestivirus	http://purl.obolibrary.org/obo/NCBITaxon_11050	Flaviviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11051	Flavivirus	http://purl.obolibrary.org/obo/NCBITaxon_11050	Flaviviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11102	Hepacivirus	http://purl.obolibrary.org/obo/NCBITaxon_11050	Flaviviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus	http://purl.obolibrary.org/obo/NCBITaxon_11050	Flaviviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11052	Dengue virus group	http://purl.obolibrary.org/obo/NCBITaxon_11051	Flavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_11071	Japanese encephalitis virus group	http://purl.obolibrary.org/obo/NCBITaxon_11051	Flavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_29263	tick-borne encephalitis virus group	http://purl.obolibrary.org/obo/NCBITaxon_11051	Flavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_40005	Yellow fever virus group	http://purl.obolibrary.org/obo/NCBITaxon_11051	Flavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_2501931	Orthocoronavirinae	http://purl.obolibrary.org/obo/NCBITaxon_11118	Coronaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_810	Chlamydia	http://purl.obolibrary.org/obo/NCBITaxon_1113537	Chlamydia/Chlamydophila group		
http://purl.obolibrary.org/obo/NCBITaxon_6685	Penaeidae	http://purl.obolibrary.org/obo/NCBITaxon_111520	Penaeoidea		
http://purl.obolibrary.org/obo/NCBITaxon_28450	Burkholderia pseudomallei	http://purl.obolibrary.org/obo/NCBITaxon_111527	pseudomallei group		
http://purl.obolibrary.org/obo/NCBITaxon_13373	Burkholderia mallei	http://purl.obolibrary.org/obo/NCBITaxon_111527	pseudomallei group		
http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_11244	Pneumoviridae	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_11270	Rhabdoviridae	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_178830	Bornaviridae	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_1955138	unclassified Mononegavirales	http://purl.obolibrary.org/obo/NCBITaxon_11157	Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_2560076	Orthoparamyxovirinae	http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3152209	Feraresvirinae	http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2560069	Avulavirinae	http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2560080	Rubulavirinae	http://purl.obolibrary.org/obo/NCBITaxon_11158	Paramyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3052342	Morbillivirus canis	http://purl.obolibrary.org/obo/NCBITaxon_11229	Morbillivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052343	Morbillivirus caprinae	http://purl.obolibrary.org/obo/NCBITaxon_11229	Morbillivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052345	Morbillivirus hominis	http://purl.obolibrary.org/obo/NCBITaxon_11229	Morbillivirus		
http://purl.obolibrary.org/obo/NCBITaxon_1868215	Orthopneumovirus	http://purl.obolibrary.org/obo/NCBITaxon_11244	Pneumoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_186537	Marburgvirus	http://purl.obolibrary.org/obo/NCBITaxon_11266	Filoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_186536	Ebolavirus	http://purl.obolibrary.org/obo/NCBITaxon_11266	Filoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus	http://purl.obolibrary.org/obo/NCBITaxon_11266	Filoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2842407	Alpharhabdovirinae	http://purl.obolibrary.org/obo/NCBITaxon_11270	Rhabdoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11292	Lyssavirus rabies	http://purl.obolibrary.org/obo/NCBITaxon_11286	Lyssavirus		
http://purl.obolibrary.org/obo/NCBITaxon_34104	Streptobacillus	http://purl.obolibrary.org/obo/NCBITaxon_1129771	Leptotrichiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_197911	Alphainfluenzavirus	http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_197912	Betainfluenzavirus	http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_197913	Gammainfluenzavirus	http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_35324	unclassified Orthomyxoviridae	http://purl.obolibrary.org/obo/NCBITaxon_11308	Orthomyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_35788	Rickettsia africae	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_35789	Rickettsia helvetica	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_35790	Rickettsia japonica	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_35792	Rickettsia parkeri	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_37816	Rickettsia honei	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_42862	Rickettsia felis	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_781	Rickettsia conorii	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_783	Rickettsia rickettsii	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_786	Rickettsia akari	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_787	Rickettsia australis	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_266068	Rickettsia sibirica subgroup	http://purl.obolibrary.org/obo/NCBITaxon_114277	spotted fever group		
http://purl.obolibrary.org/obo/NCBITaxon_782	Rickettsia prowazekii	http://purl.obolibrary.org/obo/NCBITaxon_114292	typhus group		
http://purl.obolibrary.org/obo/NCBITaxon_785	Rickettsia typhi	http://purl.obolibrary.org/obo/NCBITaxon_114292	typhus group		
http://purl.obolibrary.org/obo/NCBITaxon_3052409	Orthobunyavirus lacrosseense	http://purl.obolibrary.org/obo/NCBITaxon_11572	Orthobunyavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052429	Orthobunyavirus oropoucheense	http://purl.obolibrary.org/obo/NCBITaxon_11572	Orthobunyavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052676	Phlebovirus riftense	http://purl.obolibrary.org/obo/NCBITaxon_11584	Phlebovirus		
http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus	http://purl.obolibrary.org/obo/NCBITaxon_11617	Arenaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_327045	Orthoretrovirinae	http://purl.obolibrary.org/obo/NCBITaxon_11632	Retroviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3418649	Lentivirus felimdef	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3418650	Lentivirus humimdef1	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3418651	Lentivirus humimdef2	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3418654	Lentivirus simimdef	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3418652	Lentivirus ovivismae	http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus		
http://purl.obolibrary.org/obo/NCBITaxon_116706	Heterotremata	http://purl.obolibrary.org/obo/NCBITaxon_116704	Eubrachyura		
http://purl.obolibrary.org/obo/NCBITaxon_6774	Portunoidea	http://purl.obolibrary.org/obo/NCBITaxon_116706	Heterotremata		
http://purl.obolibrary.org/obo/NCBITaxon_117571	Euteleostomi	http://purl.obolibrary.org/obo/NCBITaxon_117570	Teleostomi		
http://purl.obolibrary.org/obo/NCBITaxon_7898	Actinopterygii	http://purl.obolibrary.org/obo/NCBITaxon_117571	Euteleostomi		
http://purl.obolibrary.org/obo/NCBITaxon_8287	Sarcopterygii	http://purl.obolibrary.org/obo/NCBITaxon_117571	Euteleostomi		
http://purl.obolibrary.org/obo/NCBITaxon_2826938	Brucella/Ochrobactrum group	http://purl.obolibrary.org/obo/NCBITaxon_118882	Brucellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_776	Coxiella <g-proteobacteria>	http://purl.obolibrary.org/obo/NCBITaxon_118968	Coxiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_118968	Coxiellaceae	http://purl.obolibrary.org/obo/NCBITaxon_118969	Legionellales		
http://purl.obolibrary.org/obo/NCBITaxon_444	Legionellaceae	http://purl.obolibrary.org/obo/NCBITaxon_118969	Legionellales		
http://purl.obolibrary.org/obo/NCBITaxon_32008	Burkholderia	http://purl.obolibrary.org/obo/NCBITaxon_119060	Burkholderiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1457286	Dorylaimia	http://purl.obolibrary.org/obo/NCBITaxon_119088	Enoplea		
http://purl.obolibrary.org/obo/NCBITaxon_6236	Rhabditida	http://purl.obolibrary.org/obo/NCBITaxon_119089	Chromadorea		
http://purl.obolibrary.org/obo/NCBITaxon_36086	Trichuris	http://purl.obolibrary.org/obo/NCBITaxon_119093	Trichuridae		
http://purl.obolibrary.org/obo/NCBITaxon_7162	Ochlerotatus triseriatus	http://purl.obolibrary.org/obo/NCBITaxon_119225	Protomacleaya		
http://purl.obolibrary.org/obo/NCBITaxon_90010	unclassified Enterovirus	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428500	Enterovirus alphacoxsackie	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428502	Enterovirus betacoxsackie	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428505	Enterovirus coxsackiepol	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428506	Enterovirus deconjuncti	http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_6231	Nematoda	http://purl.obolibrary.org/obo/NCBITaxon_1206794	Ecdysozoa		
http://purl.obolibrary.org/obo/NCBITaxon_88770	Panarthropoda	http://purl.obolibrary.org/obo/NCBITaxon_1206794	Ecdysozoa		
http://purl.obolibrary.org/obo/NCBITaxon_6157	Platyhelminthes	http://purl.obolibrary.org/obo/NCBITaxon_1206795	Lophotrochozoa		
http://purl.obolibrary.org/obo/NCBITaxon_6447	Mollusca	http://purl.obolibrary.org/obo/NCBITaxon_1206795	Lophotrochozoa		
http://purl.obolibrary.org/obo/NCBITaxon_6340	Annelida	http://purl.obolibrary.org/obo/NCBITaxon_1206795	Lophotrochozoa		
http://purl.obolibrary.org/obo/NCBITaxon_2750822	unclassified Mycobacterium avium complex (MAC)	http://purl.obolibrary.org/obo/NCBITaxon_120793	Mycobacterium avium complex (MAC)		
http://purl.obolibrary.org/obo/NCBITaxon_3407641	Hepatovirus ahepa	http://purl.obolibrary.org/obo/NCBITaxon_12091	Hepatovirus		
http://purl.obolibrary.org/obo/NCBITaxon_121222	Pediculus	http://purl.obolibrary.org/obo/NCBITaxon_121221	Pediculidae		
http://purl.obolibrary.org/obo/NCBITaxon_121225	Pediculus humanus	http://purl.obolibrary.org/obo/NCBITaxon_121222	Pediculus		
http://purl.obolibrary.org/obo/NCBITaxon_121752	Lacazia loboi	http://purl.obolibrary.org/obo/NCBITaxon_121739	Lacazia		
http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_1224	Pseudomonadota		
http://purl.obolibrary.org/obo/NCBITaxon_28211	Alphaproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_1224	Pseudomonadota		
http://purl.obolibrary.org/obo/NCBITaxon_28216	Betaproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_1224	Pseudomonadota		
http://purl.obolibrary.org/obo/NCBITaxon_123366	Eurypterygia	http://purl.obolibrary.org/obo/NCBITaxon_123365	Neoteleostei		
http://purl.obolibrary.org/obo/NCBITaxon_123367	Ctenosquamata	http://purl.obolibrary.org/obo/NCBITaxon_123366	Eurypterygia		
http://purl.obolibrary.org/obo/NCBITaxon_123368	Acanthomorphata	http://purl.obolibrary.org/obo/NCBITaxon_123367	Ctenosquamata		
http://purl.obolibrary.org/obo/NCBITaxon_1489838	Paracanthopterygii	http://purl.obolibrary.org/obo/NCBITaxon_123368	Acanthomorphata		
http://purl.obolibrary.org/obo/NCBITaxon_123369	Euacanthomorphacea	http://purl.obolibrary.org/obo/NCBITaxon_123368	Acanthomorphata		
http://purl.obolibrary.org/obo/NCBITaxon_118969	Legionellales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_135625	Pasteurellales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_72273	Thiotrichales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_91347	Enterobacterales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_2887326	Moraxellales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_135623	Vibrionales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_135624	Aeromonadales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_72274	Pseudomonadales	http://purl.obolibrary.org/obo/NCBITaxon_1236	Gammaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_186801	Clostridia	http://purl.obolibrary.org/obo/NCBITaxon_1239	Bacillota		
http://purl.obolibrary.org/obo/NCBITaxon_526524	Erysipelotrichia	http://purl.obolibrary.org/obo/NCBITaxon_1239	Bacillota		
http://purl.obolibrary.org/obo/NCBITaxon_91061	Bacilli	http://purl.obolibrary.org/obo/NCBITaxon_1239	Bacillota		
http://purl.obolibrary.org/obo/NCBITaxon_7205	Tabanidae	http://purl.obolibrary.org/obo/NCBITaxon_1262365	Tabanoidea		
http://purl.obolibrary.org/obo/NCBITaxon_1280	Staphylococcus aureus	http://purl.obolibrary.org/obo/NCBITaxon_1279	Staphylococcus		
http://purl.obolibrary.org/obo/NCBITaxon_5796	Coccidia	http://purl.obolibrary.org/obo/NCBITaxon_1280412	Conoidasida		
http://purl.obolibrary.org/obo/NCBITaxon_1647	Erysipelothrix	http://purl.obolibrary.org/obo/NCBITaxon_128827	Erysipelotrichaceae		
http://purl.obolibrary.org/obo/NCBITaxon_7511	Pulicidae	http://purl.obolibrary.org/obo/NCBITaxon_129369	Pulicoidea		
http://purl.obolibrary.org/obo/NCBITaxon_1301	Streptococcus	http://purl.obolibrary.org/obo/NCBITaxon_1300	Streptococcaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1314	Streptococcus pyogenes	http://purl.obolibrary.org/obo/NCBITaxon_1301	Streptococcus		
http://purl.obolibrary.org/obo/NCBITaxon_1313	Streptococcus pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_1301	Streptococcus		
http://purl.obolibrary.org/obo/NCBITaxon_2608887	unclassified Streptococcus	http://purl.obolibrary.org/obo/NCBITaxon_1301	Streptococcus		
http://purl.obolibrary.org/obo/NCBITaxon_3193	Embryophyta	http://purl.obolibrary.org/obo/NCBITaxon_131221	Streptophytina		
http://purl.obolibrary.org/obo/NCBITaxon_2157	Archaea	http://purl.obolibrary.org/obo/NCBITaxon_131567	cellular organisms		
http://purl.obolibrary.org/obo/NCBITaxon_2	Bacteria	http://purl.obolibrary.org/obo/NCBITaxon_131567	cellular organisms		
http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota	http://purl.obolibrary.org/obo/NCBITaxon_131567	cellular organisms		
http://purl.obolibrary.org/obo/NCBITaxon_44556	Phlebotomus <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_13203	Phlebotomus <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_8492	Archosauria	http://purl.obolibrary.org/obo/NCBITaxon_1329799	Archelosauria		
http://purl.obolibrary.org/obo/NCBITaxon_2841271	Testudinata	http://purl.obolibrary.org/obo/NCBITaxon_1329799	Archelosauria		
http://purl.obolibrary.org/obo/NCBITaxon_63673	Turbo cornutus	http://purl.obolibrary.org/obo/NCBITaxon_133423	Batillus		
http://purl.obolibrary.org/obo/NCBITaxon_32523	Tetrapoda	http://purl.obolibrary.org/obo/NCBITaxon_1338369	Dipnotetrapodomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_7878	Dipnomorpha	http://purl.obolibrary.org/obo/NCBITaxon_1338369	Dipnotetrapodomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_29960	Penaeus indicus	http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus		
http://purl.obolibrary.org/obo/NCBITaxon_6687	Penaeus monodon	http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus		
http://purl.obolibrary.org/obo/NCBITaxon_6690	Penaeus aztecus	http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus		
http://purl.obolibrary.org/obo/NCBITaxon_122378	Penaeus schmitti	http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus		
http://purl.obolibrary.org/obo/NCBITaxon_147571	Piedraiaceae	http://purl.obolibrary.org/obo/NCBITaxon_134362	Capnodiales		
http://purl.obolibrary.org/obo/NCBITaxon_712	Pasteurellaceae	http://purl.obolibrary.org/obo/NCBITaxon_135625	Pasteurellales		
http://purl.obolibrary.org/obo/NCBITaxon_1643685	Borreliaceae	http://purl.obolibrary.org/obo/NCBITaxon_136	Spirochaetales		
http://purl.obolibrary.org/obo/NCBITaxon_2845253	Treponemataceae	http://purl.obolibrary.org/obo/NCBITaxon_136	Spirochaetales		
http://purl.obolibrary.org/obo/NCBITaxon_186817	Bacillaceae	http://purl.obolibrary.org/obo/NCBITaxon_1385	Bacillales		
http://purl.obolibrary.org/obo/NCBITaxon_186820	Listeriaceae	http://purl.obolibrary.org/obo/NCBITaxon_1385	Bacillales		
http://purl.obolibrary.org/obo/NCBITaxon_90964	Staphylococcaceae	http://purl.obolibrary.org/obo/NCBITaxon_1385	Bacillales		
http://purl.obolibrary.org/obo/NCBITaxon_86661	Bacillus cereus group	http://purl.obolibrary.org/obo/NCBITaxon_1386	Bacillus <firmicutes>		
http://purl.obolibrary.org/obo/NCBITaxon_31704	Coxsackievirus A16	http://purl.obolibrary.org/obo/NCBITaxon_138948	Enterovirus A		
http://purl.obolibrary.org/obo/NCBITaxon_39054	Enterovirus A71	http://purl.obolibrary.org/obo/NCBITaxon_138948	Enterovirus A		
http://purl.obolibrary.org/obo/NCBITaxon_12080	Poliovirus 1	http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C		
http://purl.obolibrary.org/obo/NCBITaxon_12083	Poliovirus 2	http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C		
http://purl.obolibrary.org/obo/NCBITaxon_12086	Poliovirus 3	http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C		
http://purl.obolibrary.org/obo/NCBITaxon_12089	Coxsackievirus A24	http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C		
http://purl.obolibrary.org/obo/NCBITaxon_12090	enterovirus D70	http://purl.obolibrary.org/obo/NCBITaxon_138951	Enterovirus D		
http://purl.obolibrary.org/obo/NCBITaxon_129369	Pulicoidea	http://purl.obolibrary.org/obo/NCBITaxon_140693	Pulicomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_314145	Laurasiatheria	http://purl.obolibrary.org/obo/NCBITaxon_1437010	Boreoeutheria		
http://purl.obolibrary.org/obo/NCBITaxon_314146	Euarchontoglires	http://purl.obolibrary.org/obo/NCBITaxon_1437010	Boreoeutheria		
http://purl.obolibrary.org/obo/NCBITaxon_4447	Liliopsida	http://purl.obolibrary.org/obo/NCBITaxon_1437183	Mesangiospermae		
http://purl.obolibrary.org/obo/NCBITaxon_71240	eudicotyledons	http://purl.obolibrary.org/obo/NCBITaxon_1437183	Mesangiospermae		
http://purl.obolibrary.org/obo/NCBITaxon_4734	commelinids	http://purl.obolibrary.org/obo/NCBITaxon_1437197	Petrosaviidae		
http://purl.obolibrary.org/obo/NCBITaxon_71274	asterids	http://purl.obolibrary.org/obo/NCBITaxon_1437201	Pentapetalae		
http://purl.obolibrary.org/obo/NCBITaxon_71275	rosids	http://purl.obolibrary.org/obo/NCBITaxon_1437201	Pentapetalae		
http://purl.obolibrary.org/obo/NCBITaxon_6329	Trichinellida	http://purl.obolibrary.org/obo/NCBITaxon_1457286	Dorylaimia		
http://purl.obolibrary.org/obo/NCBITaxon_2044726	Dioctophymatida	http://purl.obolibrary.org/obo/NCBITaxon_1457286	Dorylaimia		
http://purl.obolibrary.org/obo/NCBITaxon_1648037	Poodae	http://purl.obolibrary.org/obo/NCBITaxon_147368	Pooideae		
http://purl.obolibrary.org/obo/NCBITaxon_1648038	Triticodae	http://purl.obolibrary.org/obo/NCBITaxon_147368	Pooideae		
http://purl.obolibrary.org/obo/NCBITaxon_1652081	Poeae Chloroplast Group 2 (Poeae type)	http://purl.obolibrary.org/obo/NCBITaxon_147387	Poeae		
http://purl.obolibrary.org/obo/NCBITaxon_3239873	Dipodascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147537	Saccharomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_4891	Saccharomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147537	Saccharomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_3239874	Pichiomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147537	Saccharomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_716546	leotiomyceta	http://purl.obolibrary.org/obo/NCBITaxon_147538	Pezizomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147541	Dothideomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_451868	Pleosporomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147541	Dothideomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_451870	Chaetothyriomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147545	Eurotiomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_451871	Eurotiomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147545	Eurotiomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_222545	Xylariomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147550	Sordariomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_222543	Hypocreomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147550	Sordariomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_222544	Sordariomycetidae	http://purl.obolibrary.org/obo/NCBITaxon_147550	Sordariomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_37987	Pneumocystales	http://purl.obolibrary.org/obo/NCBITaxon_147553	Pneumocystomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_1502	Clostridium perfringens	http://purl.obolibrary.org/obo/NCBITaxon_1485	Clostridium		
http://purl.obolibrary.org/obo/NCBITaxon_1513	Clostridium tetani	http://purl.obolibrary.org/obo/NCBITaxon_1485	Clostridium		
http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum	http://purl.obolibrary.org/obo/NCBITaxon_1485	Clostridium		
http://purl.obolibrary.org/obo/NCBITaxon_186625	Clupeocephala	http://purl.obolibrary.org/obo/NCBITaxon_1489341	Osteoglossocephalai		
http://purl.obolibrary.org/obo/NCBITaxon_123365	Neoteleostei	http://purl.obolibrary.org/obo/NCBITaxon_1489388	Euteleosteomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_41705	Protacanthopterygii	http://purl.obolibrary.org/obo/NCBITaxon_1489388	Euteleosteomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_1489841	Zeiogadaria	http://purl.obolibrary.org/obo/NCBITaxon_1489838	Paracanthopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_1489843	Gadariae	http://purl.obolibrary.org/obo/NCBITaxon_1489841	Zeiogadaria		
http://purl.obolibrary.org/obo/NCBITaxon_8043	Gadiformes	http://purl.obolibrary.org/obo/NCBITaxon_1489843	Gadariae		
http://purl.obolibrary.org/obo/NCBITaxon_8045	Gadidae	http://purl.obolibrary.org/obo/NCBITaxon_1489845	Gadoidei		
http://purl.obolibrary.org/obo/NCBITaxon_36826	Clostridium botulinum A	http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum		
http://purl.obolibrary.org/obo/NCBITaxon_36827	Clostridium botulinum B	http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum		
http://purl.obolibrary.org/obo/NCBITaxon_36830	Clostridium botulinum E	http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum		
http://purl.obolibrary.org/obo/NCBITaxon_36831	Clostridium botulinum F	http://purl.obolibrary.org/obo/NCBITaxon_1491	Clostridium botulinum		
http://purl.obolibrary.org/obo/NCBITaxon_333774	unclassified Papillomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_151340	Papillomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_693762	Schizaeales	http://purl.obolibrary.org/obo/NCBITaxon_1521262	Polypodiidae <ferns>		
http://purl.obolibrary.org/obo/NCBITaxon_3428212	Deltaretrovirus priTlym1	http://purl.obolibrary.org/obo/NCBITaxon_153136	Deltaretrovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3428213	Deltaretrovirus priTlym2	http://purl.obolibrary.org/obo/NCBITaxon_153136	Deltaretrovirus		
http://purl.obolibrary.org/obo/NCBITaxon_8976	Galliformes	http://purl.obolibrary.org/obo/NCBITaxon_1549675	Galloanserae		
http://purl.obolibrary.org/obo/NCBITaxon_8826	Anseriformes	http://purl.obolibrary.org/obo/NCBITaxon_1549675	Galloanserae		
http://purl.obolibrary.org/obo/NCBITaxon_5234	Tremellales	http://purl.obolibrary.org/obo/NCBITaxon_155616	Tremellomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_1851469	Trichosporonales	http://purl.obolibrary.org/obo/NCBITaxon_155616	Tremellomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_5579	Aureobasidium	http://purl.obolibrary.org/obo/NCBITaxon_1570301	Saccotheciaceae		
http://purl.obolibrary.org/obo/NCBITaxon_157541	Zygodontomys brevicauda	http://purl.obolibrary.org/obo/NCBITaxon_157540	Zygodontomys		
http://purl.obolibrary.org/obo/NCBITaxon_15957	Phleum pratense	http://purl.obolibrary.org/obo/NCBITaxon_15956	Phleum		
http://purl.obolibrary.org/obo/NCBITaxon_163159	Xenopsylla cheopis	http://purl.obolibrary.org/obo/NCBITaxon_163158	Xenopsylla		
http://purl.obolibrary.org/obo/NCBITaxon_5820	Plasmodium	http://purl.obolibrary.org/obo/NCBITaxon_1639119	Plasmodiidae		
http://purl.obolibrary.org/obo/NCBITaxon_138	Borrelia	http://purl.obolibrary.org/obo/NCBITaxon_1643685	Borreliaceae		
http://purl.obolibrary.org/obo/NCBITaxon_64895	Borreliella	http://purl.obolibrary.org/obo/NCBITaxon_1643685	Borreliaceae		
http://purl.obolibrary.org/obo/NCBITaxon_170	Leptospiraceae	http://purl.obolibrary.org/obo/NCBITaxon_1643688	Leptospirales		
http://purl.obolibrary.org/obo/NCBITaxon_1648	Erysipelothrix rhusiopathiae	http://purl.obolibrary.org/obo/NCBITaxon_1647	Erysipelothrix		
http://purl.obolibrary.org/obo/NCBITaxon_147387	Poeae	http://purl.obolibrary.org/obo/NCBITaxon_1648037	Poodae		
http://purl.obolibrary.org/obo/NCBITaxon_632	Yersinia pestis	http://purl.obolibrary.org/obo/NCBITaxon_1649845	Yersinia pseudotuberculosis complex		
http://purl.obolibrary.org/obo/NCBITaxon_633	Yersinia pseudotuberculosis	http://purl.obolibrary.org/obo/NCBITaxon_1649845	Yersinia pseudotuberculosis complex		
http://purl.obolibrary.org/obo/NCBITaxon_2948570	Poodinae	http://purl.obolibrary.org/obo/NCBITaxon_1652081	Poeae Chloroplast Group 2 (Poeae type)		
http://purl.obolibrary.org/obo/NCBITaxon_3052303	Mammarenavirus choriomeningitidis	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2169991	Mammarenavirus juninense	http://purl.obolibrary.org/obo/NCBITaxon_1653394	Mammarenavirus		
http://purl.obolibrary.org/obo/NCBITaxon_1659	Actinomyces israelii	http://purl.obolibrary.org/obo/NCBITaxon_1654	Actinomyces		
http://purl.obolibrary.org/obo/NCBITaxon_169449	Coelopinae	http://purl.obolibrary.org/obo/NCBITaxon_169440	Coelopidae		
http://purl.obolibrary.org/obo/NCBITaxon_169455	Coelopellini	http://purl.obolibrary.org/obo/NCBITaxon_169449	Coelopinae		
http://purl.obolibrary.org/obo/NCBITaxon_169495	This	http://purl.obolibrary.org/obo/NCBITaxon_169455	Coelopellini		
http://purl.obolibrary.org/obo/NCBITaxon_171	Leptospira	http://purl.obolibrary.org/obo/NCBITaxon_170	Leptospiraceae		
http://purl.obolibrary.org/obo/NCBITaxon_721805	Amygdaleae	http://purl.obolibrary.org/obo/NCBITaxon_171637	Amygdaloideae		
http://purl.obolibrary.org/obo/NCBITaxon_721813	Maleae	http://purl.obolibrary.org/obo/NCBITaxon_171637	Amygdaloideae		
http://purl.obolibrary.org/obo/NCBITaxon_2037	Actinomycetales	http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_85007	Mycobacteriales	http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_85004	Bifidobacteriales	http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_85006	Micrococcales	http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium	http://purl.obolibrary.org/obo/NCBITaxon_1762	Mycobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1769	Mycobacterium leprae	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_120793	Mycobacterium avium complex (MAC)	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_77643	Mycobacterium tuberculosis complex	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_1789	Mycobacterium xenopi	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_480418	Mycobacterium lepromatosis	http://purl.obolibrary.org/obo/NCBITaxon_1763	Mycobacterium		
http://purl.obolibrary.org/obo/NCBITaxon_1824	Nocardia asteroides	http://purl.obolibrary.org/obo/NCBITaxon_1817	Nocardia		
http://purl.obolibrary.org/obo/NCBITaxon_32440	Chondrostei	http://purl.obolibrary.org/obo/NCBITaxon_186623	Actinopteri		
http://purl.obolibrary.org/obo/NCBITaxon_41665	Neopterygii	http://purl.obolibrary.org/obo/NCBITaxon_186623	Actinopteri		
http://purl.obolibrary.org/obo/NCBITaxon_1489388	Euteleosteomorpha	http://purl.obolibrary.org/obo/NCBITaxon_186625	Clupeocephala		
http://purl.obolibrary.org/obo/NCBITaxon_186634	Otomorpha	http://purl.obolibrary.org/obo/NCBITaxon_186625	Clupeocephala		
http://purl.obolibrary.org/obo/NCBITaxon_186627	Cypriniphysae	http://purl.obolibrary.org/obo/NCBITaxon_186626	Otophysi		
http://purl.obolibrary.org/obo/NCBITaxon_186628	Characiphysae	http://purl.obolibrary.org/obo/NCBITaxon_186626	Otophysi		
http://purl.obolibrary.org/obo/NCBITaxon_7952	Cypriniformes	http://purl.obolibrary.org/obo/NCBITaxon_186627	Cypriniphysae		
http://purl.obolibrary.org/obo/NCBITaxon_32519	Ostariophysi	http://purl.obolibrary.org/obo/NCBITaxon_186634	Otomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_186802	Eubacteriales	http://purl.obolibrary.org/obo/NCBITaxon_186801	Clostridia		
http://purl.obolibrary.org/obo/NCBITaxon_3082720	Peptostreptococcales	http://purl.obolibrary.org/obo/NCBITaxon_186801	Clostridia		
http://purl.obolibrary.org/obo/NCBITaxon_31979	Clostridiaceae	http://purl.obolibrary.org/obo/NCBITaxon_186802	Eubacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_1386	Bacillus <firmicutes>	http://purl.obolibrary.org/obo/NCBITaxon_186817	Bacillaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1637	Listeria	http://purl.obolibrary.org/obo/NCBITaxon_186820	Listeriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1300	Streptococcaceae	http://purl.obolibrary.org/obo/NCBITaxon_186826	Lactobacillales		
http://purl.obolibrary.org/obo/NCBITaxon_81852	Enterococcaceae	http://purl.obolibrary.org/obo/NCBITaxon_186826	Lactobacillales		
http://purl.obolibrary.org/obo/NCBITaxon_119225	Protomacleaya	http://purl.obolibrary.org/obo/NCBITaxon_190765	Ochlerotatus <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_11908	Human T-cell leukemia virus type I	http://purl.obolibrary.org/obo/NCBITaxon_194440	Primate T-lymphotropic virus 1		
http://purl.obolibrary.org/obo/NCBITaxon_6657	Crustacea	http://purl.obolibrary.org/obo/NCBITaxon_197562	Pancrustacea		
http://purl.obolibrary.org/obo/NCBITaxon_6960	Hexapoda	http://purl.obolibrary.org/obo/NCBITaxon_197562	Pancrustacea		
http://purl.obolibrary.org/obo/NCBITaxon_197562	Pancrustacea	http://purl.obolibrary.org/obo/NCBITaxon_197563	Mandibulata		
http://purl.obolibrary.org/obo/NCBITaxon_1760	Actinomycetes	http://purl.obolibrary.org/obo/NCBITaxon_201174	Actinomycetota		
http://purl.obolibrary.org/obo/NCBITaxon_69034	Rotaliidae	http://purl.obolibrary.org/obo/NCBITaxon_203397	Rotaliacea		
http://purl.obolibrary.org/obo/NCBITaxon_203491	Fusobacteriales	http://purl.obolibrary.org/obo/NCBITaxon_203490	Fusobacteriia		
http://purl.obolibrary.org/obo/NCBITaxon_203492	Fusobacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_203491	Fusobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_1129771	Leptotrichiaceae	http://purl.obolibrary.org/obo/NCBITaxon_203491	Fusobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_203692	Spirochaetia	http://purl.obolibrary.org/obo/NCBITaxon_203691	Spirochaetota		
http://purl.obolibrary.org/obo/NCBITaxon_136	Spirochaetales	http://purl.obolibrary.org/obo/NCBITaxon_203692	Spirochaetia		
http://purl.obolibrary.org/obo/NCBITaxon_1643688	Leptospirales	http://purl.obolibrary.org/obo/NCBITaxon_203692	Spirochaetia		
http://purl.obolibrary.org/obo/NCBITaxon_2049	Actinomycetaceae	http://purl.obolibrary.org/obo/NCBITaxon_2037	Actinomycetales		
http://purl.obolibrary.org/obo/NCBITaxon_204429	Chlamydiia	http://purl.obolibrary.org/obo/NCBITaxon_204428	Chlamydiota		
http://purl.obolibrary.org/obo/NCBITaxon_51291	Chlamydiales	http://purl.obolibrary.org/obo/NCBITaxon_204429	Chlamydiia		
http://purl.obolibrary.org/obo/NCBITaxon_1654	Actinomyces	http://purl.obolibrary.org/obo/NCBITaxon_2049	Actinomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_481	Neisseriaceae	http://purl.obolibrary.org/obo/NCBITaxon_206351	Neisseriales		
http://purl.obolibrary.org/obo/NCBITaxon_72293	Helicobacteraceae	http://purl.obolibrary.org/obo/NCBITaxon_213849	Campylobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_72294	Campylobacteraceae	http://purl.obolibrary.org/obo/NCBITaxon_213849	Campylobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_63671	Turbinidae	http://purl.obolibrary.org/obo/NCBITaxon_216285	Trochoidea <superfamily>		
http://purl.obolibrary.org/obo/NCBITaxon_5592	Microascales	http://purl.obolibrary.org/obo/NCBITaxon_222543	Hypocreomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5125	Hypocreales	http://purl.obolibrary.org/obo/NCBITaxon_222543	Hypocreomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5151	Ophiostomatales	http://purl.obolibrary.org/obo/NCBITaxon_222544	Sordariomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_235	Brucella abortus	http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella		
http://purl.obolibrary.org/obo/NCBITaxon_29461	Brucella suis	http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella		
http://purl.obolibrary.org/obo/NCBITaxon_36855	Brucella canis	http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella		
http://purl.obolibrary.org/obo/NCBITaxon_1521262	Polypodiidae <ferns>	http://purl.obolibrary.org/obo/NCBITaxon_241806	Polypodiopsida		
http://purl.obolibrary.org/obo/NCBITaxon_263	Francisella tularensis	http://purl.obolibrary.org/obo/NCBITaxon_262	Francisella		
http://purl.obolibrary.org/obo/NCBITaxon_35793	Rickettsia sibirica	http://purl.obolibrary.org/obo/NCBITaxon_266068	Rickettsia sibirica subgroup		
http://purl.obolibrary.org/obo/NCBITaxon_33090	Viridiplantae	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_33154	Opisthokonta	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_554915	Amoebozoa	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_2698737	Sar	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_2611352	Discoba	http://purl.obolibrary.org/obo/NCBITaxon_2759	Eukaryota		
http://purl.obolibrary.org/obo/NCBITaxon_9903	Bos	http://purl.obolibrary.org/obo/NCBITaxon_27592	Bovinae		
http://purl.obolibrary.org/obo/NCBITaxon_299467	Leptotrombidium deliense	http://purl.obolibrary.org/obo/NCBITaxon_279271	Leptotrombidium		
http://purl.obolibrary.org/obo/NCBITaxon_356	Hyphomicrobiales	http://purl.obolibrary.org/obo/NCBITaxon_28211	Alphaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_766	Rickettsiales	http://purl.obolibrary.org/obo/NCBITaxon_28211	Alphaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_32003	Nitrosomonadales	http://purl.obolibrary.org/obo/NCBITaxon_28216	Betaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_206351	Neisseriales	http://purl.obolibrary.org/obo/NCBITaxon_28216	Betaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_80840	Burkholderiales	http://purl.obolibrary.org/obo/NCBITaxon_28216	Betaproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_5598	Alternaria	http://purl.obolibrary.org/obo/NCBITaxon_28556	Pleosporaceae		
http://purl.obolibrary.org/obo/NCBITaxon_91493	Exserohilum	http://purl.obolibrary.org/obo/NCBITaxon_28556	Pleosporaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5094	Talaromyces	http://purl.obolibrary.org/obo/NCBITaxon_28568	Trichocomaceae		
http://purl.obolibrary.org/obo/NCBITaxon_56210	Calomys callosus	http://purl.obolibrary.org/obo/NCBITaxon_29105	Calomys		
http://purl.obolibrary.org/obo/NCBITaxon_56211	Calomys laucha	http://purl.obolibrary.org/obo/NCBITaxon_29105	Calomys		
http://purl.obolibrary.org/obo/NCBITaxon_56212	Calomys musculinus	http://purl.obolibrary.org/obo/NCBITaxon_29105	Calomys		
http://purl.obolibrary.org/obo/NCBITaxon_137207	Oligoryzomys longicaudatus	http://purl.obolibrary.org/obo/NCBITaxon_29120	Oligoryzomys		
http://purl.obolibrary.org/obo/NCBITaxon_37020	Oryzomys palustris	http://purl.obolibrary.org/obo/NCBITaxon_29122	Oryzomys		
http://purl.obolibrary.org/obo/NCBITaxon_29185	Rotaliida	http://purl.obolibrary.org/obo/NCBITaxon_29178	Foraminifera		
http://purl.obolibrary.org/obo/NCBITaxon_203397	Rotaliacea	http://purl.obolibrary.org/obo/NCBITaxon_29185	Rotaliida		
http://purl.obolibrary.org/obo/NCBITaxon_3031852	Epsilonproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_29547	Campylobacterota		
http://purl.obolibrary.org/obo/NCBITaxon_6936	Argasidae	http://purl.obolibrary.org/obo/NCBITaxon_297308	Ixodoidea		
http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae	http://purl.obolibrary.org/obo/NCBITaxon_297308	Ixodoidea		
http://purl.obolibrary.org/obo/NCBITaxon_29908	Sporothrix schenckii	http://purl.obolibrary.org/obo/NCBITaxon_29907	Sporothrix		
http://purl.obolibrary.org/obo/NCBITaxon_38946	Paracoccidioides	http://purl.obolibrary.org/obo/NCBITaxon_299071	Ajellomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5036	Histoplasma	http://purl.obolibrary.org/obo/NCBITaxon_299071	Ajellomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_229219	Blastomyces	http://purl.obolibrary.org/obo/NCBITaxon_299071	Ajellomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_121221	Pediculidae	http://purl.obolibrary.org/obo/NCBITaxon_30005	Anoplura		
http://purl.obolibrary.org/obo/NCBITaxon_121229	Pthiridae	http://purl.obolibrary.org/obo/NCBITaxon_30005	Anoplura		
http://purl.obolibrary.org/obo/NCBITaxon_7953	Cyprinidae	http://purl.obolibrary.org/obo/NCBITaxon_30727	Cyprinoidei		
http://purl.obolibrary.org/obo/NCBITaxon_2743709	Danionidae	http://purl.obolibrary.org/obo/NCBITaxon_30727	Cyprinoidei		
http://purl.obolibrary.org/obo/NCBITaxon_2743744	Tincidae	http://purl.obolibrary.org/obo/NCBITaxon_30727	Cyprinoidei		
http://purl.obolibrary.org/obo/NCBITaxon_3051624	Amdoparvovirus carnivoran1	http://purl.obolibrary.org/obo/NCBITaxon_310911	Amdoparvovirus		
http://purl.obolibrary.org/obo/NCBITaxon_91561	Artiodactyla	http://purl.obolibrary.org/obo/NCBITaxon_314145	Laurasiatheria		
http://purl.obolibrary.org/obo/NCBITaxon_33554	Carnivora	http://purl.obolibrary.org/obo/NCBITaxon_314145	Laurasiatheria		
http://purl.obolibrary.org/obo/NCBITaxon_9362	Eulipotyphla	http://purl.obolibrary.org/obo/NCBITaxon_314145	Laurasiatheria		
http://purl.obolibrary.org/obo/NCBITaxon_9397	Chiroptera	http://purl.obolibrary.org/obo/NCBITaxon_314145	Laurasiatheria		
http://purl.obolibrary.org/obo/NCBITaxon_9787	Perissodactyla	http://purl.obolibrary.org/obo/NCBITaxon_314145	Laurasiatheria		
http://purl.obolibrary.org/obo/NCBITaxon_9392	Scandentia	http://purl.obolibrary.org/obo/NCBITaxon_314146	Euarchontoglires		
http://purl.obolibrary.org/obo/NCBITaxon_314147	Glires	http://purl.obolibrary.org/obo/NCBITaxon_314146	Euarchontoglires		
http://purl.obolibrary.org/obo/NCBITaxon_9443	Primates	http://purl.obolibrary.org/obo/NCBITaxon_314146	Euarchontoglires		
http://purl.obolibrary.org/obo/NCBITaxon_9989	Rodentia	http://purl.obolibrary.org/obo/NCBITaxon_314147	Glires		
http://purl.obolibrary.org/obo/NCBITaxon_9975	Lagomorpha	http://purl.obolibrary.org/obo/NCBITaxon_314147	Glires		
http://purl.obolibrary.org/obo/NCBITaxon_58023	Tracheophyta	http://purl.obolibrary.org/obo/NCBITaxon_3193	Embryophyta		
http://purl.obolibrary.org/obo/NCBITaxon_1485	Clostridium	http://purl.obolibrary.org/obo/NCBITaxon_31979	Clostridiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_111527	pseudomallei group	http://purl.obolibrary.org/obo/NCBITaxon_32008	Burkholderia		
http://purl.obolibrary.org/obo/NCBITaxon_203490	Fusobacteriia	http://purl.obolibrary.org/obo/NCBITaxon_32066	Fusobacteriota		
http://purl.obolibrary.org/obo/NCBITaxon_1489341	Osteoglossocephalai	http://purl.obolibrary.org/obo/NCBITaxon_32443	Teleostei		
http://purl.obolibrary.org/obo/NCBITaxon_1489340	Elopocephalai	http://purl.obolibrary.org/obo/NCBITaxon_32443	Teleostei		
http://purl.obolibrary.org/obo/NCBITaxon_186626	Otophysi	http://purl.obolibrary.org/obo/NCBITaxon_32519	Ostariophysi		
http://purl.obolibrary.org/obo/NCBITaxon_32524	Amniota	http://purl.obolibrary.org/obo/NCBITaxon_32523	Tetrapoda		
http://purl.obolibrary.org/obo/NCBITaxon_8292	Amphibia	http://purl.obolibrary.org/obo/NCBITaxon_32523	Tetrapoda		
http://purl.obolibrary.org/obo/NCBITaxon_40674	Mammalia	http://purl.obolibrary.org/obo/NCBITaxon_32524	Amniota		
http://purl.obolibrary.org/obo/NCBITaxon_8457	Sauropsida	http://purl.obolibrary.org/obo/NCBITaxon_32524	Amniota		
http://purl.obolibrary.org/obo/NCBITaxon_9347	Eutheria	http://purl.obolibrary.org/obo/NCBITaxon_32525	Theria <mammals>		
http://purl.obolibrary.org/obo/NCBITaxon_9263	Metatheria	http://purl.obolibrary.org/obo/NCBITaxon_32525	Theria <mammals>		
http://purl.obolibrary.org/obo/NCBITaxon_1329799	Archelosauria	http://purl.obolibrary.org/obo/NCBITaxon_32561	Sauria		
http://purl.obolibrary.org/obo/NCBITaxon_8504	Lepidosauria	http://purl.obolibrary.org/obo/NCBITaxon_32561	Sauria		
http://purl.obolibrary.org/obo/NCBITaxon_153136	Deltaretrovirus	http://purl.obolibrary.org/obo/NCBITaxon_327045	Orthoretrovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_1233735	unclassified Orthoretrovirinae	http://purl.obolibrary.org/obo/NCBITaxon_327045	Orthoretrovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_35493	Streptophyta	http://purl.obolibrary.org/obo/NCBITaxon_33090	Viridiplantae		
http://purl.obolibrary.org/obo/NCBITaxon_3041	Chlorophyta	http://purl.obolibrary.org/obo/NCBITaxon_33090	Viridiplantae		
http://purl.obolibrary.org/obo/NCBITaxon_4751	Fungi	http://purl.obolibrary.org/obo/NCBITaxon_33154	Opisthokonta		
http://purl.obolibrary.org/obo/NCBITaxon_33208	Metazoa	http://purl.obolibrary.org/obo/NCBITaxon_33154	Opisthokonta		
http://purl.obolibrary.org/obo/NCBITaxon_127916	Ichthyosporea	http://purl.obolibrary.org/obo/NCBITaxon_33154	Opisthokonta		
http://purl.obolibrary.org/obo/NCBITaxon_42461	Opisthokonta incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_33154	Opisthokonta		
http://purl.obolibrary.org/obo/NCBITaxon_299071	Ajellomycetaceae	http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales		
http://purl.obolibrary.org/obo/NCBITaxon_34384	Arthrodermataceae	http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales		
http://purl.obolibrary.org/obo/NCBITaxon_1593277	Onygenales incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales		
http://purl.obolibrary.org/obo/NCBITaxon_6072	Eumetazoa	http://purl.obolibrary.org/obo/NCBITaxon_33208	Metazoa		
http://purl.obolibrary.org/obo/NCBITaxon_6040	Porifera	http://purl.obolibrary.org/obo/NCBITaxon_33208	Metazoa		
http://purl.obolibrary.org/obo/NCBITaxon_33317	Protostomia	http://purl.obolibrary.org/obo/NCBITaxon_33213	Bilateria		
http://purl.obolibrary.org/obo/NCBITaxon_33511	Deuterostomia	http://purl.obolibrary.org/obo/NCBITaxon_33213	Bilateria		
http://purl.obolibrary.org/obo/NCBITaxon_1312402	Xenacoelomorpha	http://purl.obolibrary.org/obo/NCBITaxon_33213	Bilateria		
http://purl.obolibrary.org/obo/NCBITaxon_33259	Toxocaridae	http://purl.obolibrary.org/obo/NCBITaxon_33256	Ascaridoidea		
http://purl.obolibrary.org/obo/NCBITaxon_6267	Anisakidae	http://purl.obolibrary.org/obo/NCBITaxon_33256	Ascaridoidea		
http://purl.obolibrary.org/obo/NCBITaxon_1206794	Ecdysozoa	http://purl.obolibrary.org/obo/NCBITaxon_33317	Protostomia		
http://purl.obolibrary.org/obo/NCBITaxon_2697495	Spiralia	http://purl.obolibrary.org/obo/NCBITaxon_33317	Protostomia		
http://purl.obolibrary.org/obo/NCBITaxon_33342	Paraneoptera	http://purl.obolibrary.org/obo/NCBITaxon_33340	Neoptera		
http://purl.obolibrary.org/obo/NCBITaxon_33392	Endopterygota	http://purl.obolibrary.org/obo/NCBITaxon_33340	Neoptera		
http://purl.obolibrary.org/obo/NCBITaxon_1930602	Psocodea	http://purl.obolibrary.org/obo/NCBITaxon_33342	Paraneoptera		
http://purl.obolibrary.org/obo/NCBITaxon_7524	Hemiptera	http://purl.obolibrary.org/obo/NCBITaxon_33342	Paraneoptera		
http://purl.obolibrary.org/obo/NCBITaxon_173087	Human papillomavirus types	http://purl.obolibrary.org/obo/NCBITaxon_333774	unclassified Papillomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_7147	Diptera	http://purl.obolibrary.org/obo/NCBITaxon_33392	Endopterygota		
http://purl.obolibrary.org/obo/NCBITaxon_7509	Siphonaptera	http://purl.obolibrary.org/obo/NCBITaxon_33392	Endopterygota		
http://purl.obolibrary.org/obo/NCBITaxon_85604	Amphiesmenoptera	http://purl.obolibrary.org/obo/NCBITaxon_33392	Endopterygota		
http://purl.obolibrary.org/obo/NCBITaxon_7711	Chordata	http://purl.obolibrary.org/obo/NCBITaxon_33511	Deuterostomia		
http://purl.obolibrary.org/obo/NCBITaxon_7586	Echinodermata	http://purl.obolibrary.org/obo/NCBITaxon_33511	Deuterostomia		
http://purl.obolibrary.org/obo/NCBITaxon_55153	Sciuridae	http://purl.obolibrary.org/obo/NCBITaxon_33553	Sciuromorpha		
http://purl.obolibrary.org/obo/NCBITaxon_5794	Apicomplexa	http://purl.obolibrary.org/obo/NCBITaxon_33630	Alveolata		
http://purl.obolibrary.org/obo/NCBITaxon_5878	Ciliophora	http://purl.obolibrary.org/obo/NCBITaxon_33630	Alveolata		
http://purl.obolibrary.org/obo/NCBITaxon_5653	Kinetoplastea	http://purl.obolibrary.org/obo/NCBITaxon_33682	Euglenozoa		
http://purl.obolibrary.org/obo/NCBITaxon_337963	Neotominae	http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae		
http://purl.obolibrary.org/obo/NCBITaxon_39087	Arvicolinae	http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae		
http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae	http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae		
http://purl.obolibrary.org/obo/NCBITaxon_10026	Cricetinae	http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae		
http://purl.obolibrary.org/obo/NCBITaxon_10066	Muridae	http://purl.obolibrary.org/obo/NCBITaxon_337687	Muroidea		
http://purl.obolibrary.org/obo/NCBITaxon_337677	Cricetidae	http://purl.obolibrary.org/obo/NCBITaxon_337687	Muroidea		
http://purl.obolibrary.org/obo/NCBITaxon_42407	Neotoma	http://purl.obolibrary.org/obo/NCBITaxon_337963	Neotominae		
http://purl.obolibrary.org/obo/NCBITaxon_1437183	Mesangiospermae	http://purl.obolibrary.org/obo/NCBITaxon_3398	Magnoliopsida		
http://purl.obolibrary.org/obo/NCBITaxon_780	Rickettsia	http://purl.obolibrary.org/obo/NCBITaxon_33988	Rickettsieae		
http://purl.obolibrary.org/obo/NCBITaxon_69474	Orientia	http://purl.obolibrary.org/obo/NCBITaxon_33988	Rickettsieae		
http://purl.obolibrary.org/obo/NCBITaxon_262	Francisella	http://purl.obolibrary.org/obo/NCBITaxon_34064	Francisellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_34105	Streptobacillus moniliformis	http://purl.obolibrary.org/obo/NCBITaxon_34104	Streptobacillus		
http://purl.obolibrary.org/obo/NCBITaxon_43987	Geotrichum	http://purl.obolibrary.org/obo/NCBITaxon_34353	Dipodascaceae		
http://purl.obolibrary.org/obo/NCBITaxon_34390	Epidermophyton	http://purl.obolibrary.org/obo/NCBITaxon_34384	Arthrodermataceae		
http://purl.obolibrary.org/obo/NCBITaxon_5550	Trichophyton	http://purl.obolibrary.org/obo/NCBITaxon_34384	Arthrodermataceae		
http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae	http://purl.obolibrary.org/obo/NCBITaxon_34395	Chaetothyriales		
http://purl.obolibrary.org/obo/NCBITaxon_181088	Haemaphysalis flava	http://purl.obolibrary.org/obo/NCBITaxon_34622	Haemaphysalis		
http://purl.obolibrary.org/obo/NCBITaxon_523089	Haemaphysalis concinna	http://purl.obolibrary.org/obo/NCBITaxon_34622	Haemaphysalis		
http://purl.obolibrary.org/obo/NCBITaxon_426455	Rhipicephalus <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_34630	Rhipicephalus <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_131221	Streptophytina	http://purl.obolibrary.org/obo/NCBITaxon_35493	Streptophyta		
http://purl.obolibrary.org/obo/NCBITaxon_9895	Bovidae	http://purl.obolibrary.org/obo/NCBITaxon_35500	Pecora		
http://purl.obolibrary.org/obo/NCBITaxon_9850	Cervidae	http://purl.obolibrary.org/obo/NCBITaxon_35500	Pecora		
http://purl.obolibrary.org/obo/NCBITaxon_118882	Brucellaceae	http://purl.obolibrary.org/obo/NCBITaxon_356	Hyphomicrobiales		
http://purl.obolibrary.org/obo/NCBITaxon_772	Bartonellaceae	http://purl.obolibrary.org/obo/NCBITaxon_356	Hyphomicrobiales		
http://purl.obolibrary.org/obo/NCBITaxon_147368	Pooideae	http://purl.obolibrary.org/obo/NCBITaxon_359160	BOP clade		
http://purl.obolibrary.org/obo/NCBITaxon_36087	Trichuris trichiura	http://purl.obolibrary.org/obo/NCBITaxon_36086	Trichuris		
http://purl.obolibrary.org/obo/NCBITaxon_6033	Encephalitozoon	http://purl.obolibrary.org/obo/NCBITaxon_36734	Unikaryonidae		
http://purl.obolibrary.org/obo/NCBITaxon_3745	Rosaceae	http://purl.obolibrary.org/obo/NCBITaxon_3744	Rosales		
http://purl.obolibrary.org/obo/NCBITaxon_171637	Amygdaloideae	http://purl.obolibrary.org/obo/NCBITaxon_3745	Rosaceae		
http://purl.obolibrary.org/obo/NCBITaxon_3750	Malus domestica	http://purl.obolibrary.org/obo/NCBITaxon_3749	Malus		
http://purl.obolibrary.org/obo/NCBITaxon_36596	Prunus armeniaca	http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus		
http://purl.obolibrary.org/obo/NCBITaxon_3758	Prunus domestica	http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus		
http://purl.obolibrary.org/obo/NCBITaxon_3760	Prunus persica	http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus		
http://purl.obolibrary.org/obo/NCBITaxon_44281	Pneumocystaceae	http://purl.obolibrary.org/obo/NCBITaxon_37987	Pneumocystales		
http://purl.obolibrary.org/obo/NCBITaxon_4479	Poaceae	http://purl.obolibrary.org/obo/NCBITaxon_38820	Poales		
http://purl.obolibrary.org/obo/NCBITaxon_121759	Paracoccidioides brasiliensis	http://purl.obolibrary.org/obo/NCBITaxon_38946	Paracoccidioides		
http://purl.obolibrary.org/obo/NCBITaxon_447134	Myodes	http://purl.obolibrary.org/obo/NCBITaxon_39087	Arvicolinae		
http://purl.obolibrary.org/obo/NCBITaxon_10088	Mus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae		
http://purl.obolibrary.org/obo/NCBITaxon_10114	Rattus	http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae		
http://purl.obolibrary.org/obo/NCBITaxon_10128	Apodemus	http://purl.obolibrary.org/obo/NCBITaxon_39107	Murinae		
http://purl.obolibrary.org/obo/NCBITaxon_2844074	Deltavirus italiense	http://purl.obolibrary.org/obo/NCBITaxon_39759	Deltavirus		
http://purl.obolibrary.org/obo/NCBITaxon_54292	Apodemus flavicollis	http://purl.obolibrary.org/obo/NCBITaxon_400053	Sylvaemus group		
http://purl.obolibrary.org/obo/NCBITaxon_310911	Amdoparvovirus	http://purl.obolibrary.org/obo/NCBITaxon_40119	Parvovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_40121	Erythroparvovirus	http://purl.obolibrary.org/obo/NCBITaxon_40119	Parvovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_157540	Zygodontomys	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_29105	Calomys	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_29120	Oligoryzomys	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_29122	Oryzomys	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_42414	Sigmodon	http://purl.obolibrary.org/obo/NCBITaxon_40141	Sigmodontinae		
http://purl.obolibrary.org/obo/NCBITaxon_431037	unclassified Roseolovirus	http://purl.obolibrary.org/obo/NCBITaxon_40272	Roseolovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3050298	Roseolovirus humanbeta7	http://purl.obolibrary.org/obo/NCBITaxon_40272	Roseolovirus		
http://purl.obolibrary.org/obo/NCBITaxon_32525	Theria <mammals>	http://purl.obolibrary.org/obo/NCBITaxon_40674	Mammalia		
http://purl.obolibrary.org/obo/NCBITaxon_9254	Prototheria	http://purl.obolibrary.org/obo/NCBITaxon_40674	Mammalia		
http://purl.obolibrary.org/obo/NCBITaxon_4070	Solanaceae	http://purl.obolibrary.org/obo/NCBITaxon_4069	Solanales		
http://purl.obolibrary.org/obo/NCBITaxon_424551	Solanoideae	http://purl.obolibrary.org/obo/NCBITaxon_4070	Solanaceae		
http://purl.obolibrary.org/obo/NCBITaxon_49274	Solanum subgen. Lycopersicon	http://purl.obolibrary.org/obo/NCBITaxon_4107	Solanum		
http://purl.obolibrary.org/obo/NCBITaxon_32443	Teleostei	http://purl.obolibrary.org/obo/NCBITaxon_41665	Neopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_5597	Scedosporium boydii	http://purl.obolibrary.org/obo/NCBITaxon_41687	Scedosporium		
http://purl.obolibrary.org/obo/NCBITaxon_8006	Salmoniformes	http://purl.obolibrary.org/obo/NCBITaxon_41705	Protacanthopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_36330	Plasmodium ovale	http://purl.obolibrary.org/obo/NCBITaxon_418103	Plasmodium (Plasmodium)		
http://purl.obolibrary.org/obo/NCBITaxon_5855	Plasmodium vivax	http://purl.obolibrary.org/obo/NCBITaxon_418103	Plasmodium (Plasmodium)		
http://purl.obolibrary.org/obo/NCBITaxon_5833	Plasmodium falciparum	http://purl.obolibrary.org/obo/NCBITaxon_418107	Plasmodium (Laverania)		
http://purl.obolibrary.org/obo/NCBITaxon_43801	Ceratopogoninae	http://purl.obolibrary.org/obo/NCBITaxon_41819	Ceratopogonidae		
http://purl.obolibrary.org/obo/NCBITaxon_7157	Culicidae	http://purl.obolibrary.org/obo/NCBITaxon_41827	Culicoidea		
http://purl.obolibrary.org/obo/NCBITaxon_41819	Ceratopogonidae	http://purl.obolibrary.org/obo/NCBITaxon_41828	Chironomoidea		
http://purl.obolibrary.org/obo/NCBITaxon_7197	Psychodidae	http://purl.obolibrary.org/obo/NCBITaxon_41831	Psychodoidea		
http://purl.obolibrary.org/obo/NCBITaxon_5819	Haemosporida	http://purl.obolibrary.org/obo/NCBITaxon_422676	Aconoidasida		
http://purl.obolibrary.org/obo/NCBITaxon_5863	Piroplasmida	http://purl.obolibrary.org/obo/NCBITaxon_422676	Aconoidasida		
http://purl.obolibrary.org/obo/NCBITaxon_5809	Sarcocystidae	http://purl.obolibrary.org/obo/NCBITaxon_423054	Eimeriorina		
http://purl.obolibrary.org/obo/NCBITaxon_5799	Eimeriidae	http://purl.obolibrary.org/obo/NCBITaxon_423054	Eimeriorina		
http://purl.obolibrary.org/obo/NCBITaxon_35082	Cryptosporidiidae	http://purl.obolibrary.org/obo/NCBITaxon_423054	Eimeriorina		
http://purl.obolibrary.org/obo/NCBITaxon_42408	Neotoma albigula	http://purl.obolibrary.org/obo/NCBITaxon_42407	Neotoma		
http://purl.obolibrary.org/obo/NCBITaxon_134742	Sigmodon alstoni	http://purl.obolibrary.org/obo/NCBITaxon_42414	Sigmodon		
http://purl.obolibrary.org/obo/NCBITaxon_42415	Sigmodon hispidus	http://purl.obolibrary.org/obo/NCBITaxon_42414	Sigmodon		
http://purl.obolibrary.org/obo/NCBITaxon_424574	Solaneae	http://purl.obolibrary.org/obo/NCBITaxon_424551	Solanoideae		
http://purl.obolibrary.org/obo/NCBITaxon_4107	Solanum	http://purl.obolibrary.org/obo/NCBITaxon_424574	Solaneae		
http://purl.obolibrary.org/obo/NCBITaxon_34625	Hyalomma	http://purl.obolibrary.org/obo/NCBITaxon_426438	Hyalomminae		
http://purl.obolibrary.org/obo/NCBITaxon_34622	Haemaphysalis	http://purl.obolibrary.org/obo/NCBITaxon_426439	Haemaphysalinae		
http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma	http://purl.obolibrary.org/obo/NCBITaxon_426441	Amblyomminae		
http://purl.obolibrary.org/obo/NCBITaxon_6944	Ixodes	http://purl.obolibrary.org/obo/NCBITaxon_426442	Ixodinae		
http://purl.obolibrary.org/obo/NCBITaxon_578835	Rhipicephalus sanguineus group	http://purl.obolibrary.org/obo/NCBITaxon_426455	Rhipicephalus <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_10368	Human betaherpesvirus 6	http://purl.obolibrary.org/obo/NCBITaxon_431037	unclassified Roseolovirus		
http://purl.obolibrary.org/obo/NCBITaxon_5600	Phialophora	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_66225	Phaeoannellomyces	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5583	Exophiala	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5587	Rhinocladiella	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_82105	Cladophialophora	http://purl.obolibrary.org/obo/NCBITaxon_43219	Herpotrichiellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_436489	Saurischia	http://purl.obolibrary.org/obo/NCBITaxon_436486	Dinosauria		
http://purl.obolibrary.org/obo/NCBITaxon_436491	Theropoda	http://purl.obolibrary.org/obo/NCBITaxon_436489	Saurischia		
http://purl.obolibrary.org/obo/NCBITaxon_436492	Coelurosauria	http://purl.obolibrary.org/obo/NCBITaxon_436491	Theropoda		
http://purl.obolibrary.org/obo/NCBITaxon_8782	Aves	http://purl.obolibrary.org/obo/NCBITaxon_436492	Coelurosauria		
http://purl.obolibrary.org/obo/NCBITaxon_480118	Eremoneura	http://purl.obolibrary.org/obo/NCBITaxon_43733	Muscomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_1262365	Tabanoidea	http://purl.obolibrary.org/obo/NCBITaxon_43735	Tabanomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_43741	Acalyptratae	http://purl.obolibrary.org/obo/NCBITaxon_43738	Schizophora		
http://purl.obolibrary.org/obo/NCBITaxon_43742	Calyptratae	http://purl.obolibrary.org/obo/NCBITaxon_43738	Schizophora		
http://purl.obolibrary.org/obo/NCBITaxon_43750	Sciomyzoidea	http://purl.obolibrary.org/obo/NCBITaxon_43741	Acalyptratae		
http://purl.obolibrary.org/obo/NCBITaxon_43746	Ephydroidea	http://purl.obolibrary.org/obo/NCBITaxon_43741	Acalyptratae		
http://purl.obolibrary.org/obo/NCBITaxon_169440	Coelopidae	http://purl.obolibrary.org/obo/NCBITaxon_43750	Sciomyzoidea		
http://purl.obolibrary.org/obo/NCBITaxon_41827	Culicoidea	http://purl.obolibrary.org/obo/NCBITaxon_43786	Culicomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_41828	Chironomoidea	http://purl.obolibrary.org/obo/NCBITaxon_43786	Culicomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_41831	Psychodoidea	http://purl.obolibrary.org/obo/NCBITaxon_43787	Psychodomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_58262	Culicoidini	http://purl.obolibrary.org/obo/NCBITaxon_43801	Ceratopogoninae		
http://purl.obolibrary.org/obo/NCBITaxon_7164	Anopheles <genus>	http://purl.obolibrary.org/obo/NCBITaxon_43816	Anophelinae		
http://purl.obolibrary.org/obo/NCBITaxon_1056966	Aedini	http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae		
http://purl.obolibrary.org/obo/NCBITaxon_53549	Sabethini	http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae		
http://purl.obolibrary.org/obo/NCBITaxon_53550	Culicini	http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae		
http://purl.obolibrary.org/obo/NCBITaxon_59848	Chrysopsini	http://purl.obolibrary.org/obo/NCBITaxon_43920	Chrysopsinae		
http://purl.obolibrary.org/obo/NCBITaxon_4753	Pneumocystis	http://purl.obolibrary.org/obo/NCBITaxon_44281	Pneumocystaceae		
http://purl.obolibrary.org/obo/NCBITaxon_445	Legionella	http://purl.obolibrary.org/obo/NCBITaxon_444	Legionellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1437197	Petrosaviidae	http://purl.obolibrary.org/obo/NCBITaxon_4447	Liliopsida		
http://purl.obolibrary.org/obo/NCBITaxon_446	Legionella pneumophila	http://purl.obolibrary.org/obo/NCBITaxon_445	Legionella		
http://purl.obolibrary.org/obo/NCBITaxon_44537	Pyretophorus	http://purl.obolibrary.org/obo/NCBITaxon_44534	Cellia		
http://purl.obolibrary.org/obo/NCBITaxon_59140	Myzomyia	http://purl.obolibrary.org/obo/NCBITaxon_44534	Cellia		
http://purl.obolibrary.org/obo/NCBITaxon_44542	gambiae species complex	http://purl.obolibrary.org/obo/NCBITaxon_44537	Pyretophorus		
http://purl.obolibrary.org/obo/NCBITaxon_7165	Anopheles gambiae	http://purl.obolibrary.org/obo/NCBITaxon_44542	gambiae species complex		
http://purl.obolibrary.org/obo/NCBITaxon_29031	Phlebotomus papatasi	http://purl.obolibrary.org/obo/NCBITaxon_44556	Phlebotomus <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_447135	Myodes glareolus	http://purl.obolibrary.org/obo/NCBITaxon_447134	Myodes		
http://purl.obolibrary.org/obo/NCBITaxon_359160	BOP clade	http://purl.obolibrary.org/obo/NCBITaxon_4479	Poaceae		
http://purl.obolibrary.org/obo/NCBITaxon_4890	Ascomycota	http://purl.obolibrary.org/obo/NCBITaxon_451864	Dikarya		
http://purl.obolibrary.org/obo/NCBITaxon_5204	Basidiomycota	http://purl.obolibrary.org/obo/NCBITaxon_451864	Dikarya		
http://purl.obolibrary.org/obo/NCBITaxon_147553	Pneumocystomycetes	http://purl.obolibrary.org/obo/NCBITaxon_451866	Taphrinomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_134362	Capnodiales	http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5014	Dothideales	http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_2726946	Cladosporiales	http://purl.obolibrary.org/obo/NCBITaxon_451867	Dothideomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_92860	Pleosporales	http://purl.obolibrary.org/obo/NCBITaxon_451868	Pleosporomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_34395	Chaetothyriales	http://purl.obolibrary.org/obo/NCBITaxon_451870	Chaetothyriomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_33183	Onygenales	http://purl.obolibrary.org/obo/NCBITaxon_451871	Eurotiomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5042	Eurotiales	http://purl.obolibrary.org/obo/NCBITaxon_451871	Eurotiomycetidae		
http://purl.obolibrary.org/obo/NCBITaxon_5498	Cladosporium	http://purl.obolibrary.org/obo/NCBITaxon_452563	Cladosporiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_11974	Caliciviridae	http://purl.obolibrary.org/obo/NCBITaxon_464095	Picornavirales		
http://purl.obolibrary.org/obo/NCBITaxon_12058	Picornaviridae	http://purl.obolibrary.org/obo/NCBITaxon_464095	Picornavirales		
http://purl.obolibrary.org/obo/NCBITaxon_232795	Dicistroviridae	http://purl.obolibrary.org/obo/NCBITaxon_464095	Picornavirales		
http://purl.obolibrary.org/obo/NCBITaxon_38820	Poales	http://purl.obolibrary.org/obo/NCBITaxon_4734	commelinids		
http://purl.obolibrary.org/obo/NCBITaxon_42068	Pneumocystis jirovecii	http://purl.obolibrary.org/obo/NCBITaxon_4753	Pneumocystis		
http://purl.obolibrary.org/obo/NCBITaxon_163158	Xenopsylla	http://purl.obolibrary.org/obo/NCBITaxon_476427	Xenopsyllinae		
http://purl.obolibrary.org/obo/NCBITaxon_43738	Schizophora	http://purl.obolibrary.org/obo/NCBITaxon_480117	Cyclorrhapha		
http://purl.obolibrary.org/obo/NCBITaxon_480117	Cyclorrhapha	http://purl.obolibrary.org/obo/NCBITaxon_480118	Eremoneura		
http://purl.obolibrary.org/obo/NCBITaxon_482	Neisseria	http://purl.obolibrary.org/obo/NCBITaxon_481	Neisseriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_485	Neisseria gonorrhoeae	http://purl.obolibrary.org/obo/NCBITaxon_482	Neisseria		
http://purl.obolibrary.org/obo/NCBITaxon_487	Neisseria meningitidis	http://purl.obolibrary.org/obo/NCBITaxon_482	Neisseria		
http://purl.obolibrary.org/obo/NCBITaxon_4892	Saccharomycetales	http://purl.obolibrary.org/obo/NCBITaxon_4891	Saccharomycetes		
http://purl.obolibrary.org/obo/NCBITaxon_4893	Saccharomycetaceae	http://purl.obolibrary.org/obo/NCBITaxon_4892	Saccharomycetales		
http://purl.obolibrary.org/obo/NCBITaxon_4081	Solanum lycopersicum	http://purl.obolibrary.org/obo/NCBITaxon_49274	Solanum subgen. Lycopersicon		
http://purl.obolibrary.org/obo/NCBITaxon_1570301	Saccotheciaceae	http://purl.obolibrary.org/obo/NCBITaxon_5014	Dothideales		
http://purl.obolibrary.org/obo/NCBITaxon_28568	Trichocomaceae	http://purl.obolibrary.org/obo/NCBITaxon_5042	Eurotiales		
http://purl.obolibrary.org/obo/NCBITaxon_1131492	Aspergillaceae	http://purl.obolibrary.org/obo/NCBITaxon_5042	Eurotiales		
http://purl.obolibrary.org/obo/NCBITaxon_8016	Oncorhynchus	http://purl.obolibrary.org/obo/NCBITaxon_504568	Salmoninae		
http://purl.obolibrary.org/obo/NCBITaxon_8028	Salmo	http://purl.obolibrary.org/obo/NCBITaxon_504568	Salmoninae		
http://purl.obolibrary.org/obo/NCBITaxon_85512	Dicondylia	http://purl.obolibrary.org/obo/NCBITaxon_50557	Insecta		
http://purl.obolibrary.org/obo/NCBITaxon_517	Bordetella	http://purl.obolibrary.org/obo/NCBITaxon_506	Alcaligenaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2752537	Talaromyces sect. Talaromyces	http://purl.obolibrary.org/obo/NCBITaxon_5094	Talaromyces		
http://purl.obolibrary.org/obo/NCBITaxon_809	Chlamydiaceae	http://purl.obolibrary.org/obo/NCBITaxon_51291	Chlamydiales		
http://purl.obolibrary.org/obo/NCBITaxon_5152	Ophiostomataceae	http://purl.obolibrary.org/obo/NCBITaxon_5151	Ophiostomatales		
http://purl.obolibrary.org/obo/NCBITaxon_29907	Sporothrix	http://purl.obolibrary.org/obo/NCBITaxon_5152	Ophiostomataceae		
http://purl.obolibrary.org/obo/NCBITaxon_519	Bordetella parapertussis	http://purl.obolibrary.org/obo/NCBITaxon_517	Bordetella		
http://purl.obolibrary.org/obo/NCBITaxon_520	Bordetella pertussis	http://purl.obolibrary.org/obo/NCBITaxon_517	Bordetella		
http://purl.obolibrary.org/obo/NCBITaxon_5302	Agaricomycotina	http://purl.obolibrary.org/obo/NCBITaxon_5204	Basidiomycota		
http://purl.obolibrary.org/obo/NCBITaxon_452284	Ustilaginomycotina	http://purl.obolibrary.org/obo/NCBITaxon_5204	Basidiomycota		
http://purl.obolibrary.org/obo/NCBITaxon_1884633	Cryptococcaceae	http://purl.obolibrary.org/obo/NCBITaxon_5234	Tremellales		
http://purl.obolibrary.org/obo/NCBITaxon_526525	Erysipelotrichales	http://purl.obolibrary.org/obo/NCBITaxon_526524	Erysipelotrichia		
http://purl.obolibrary.org/obo/NCBITaxon_128827	Erysipelotrichaceae	http://purl.obolibrary.org/obo/NCBITaxon_526525	Erysipelotrichales		
http://purl.obolibrary.org/obo/NCBITaxon_155616	Tremellomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5302	Agaricomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_162997	Culex annulirostris	http://purl.obolibrary.org/obo/NCBITaxon_53527	Culex <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_7178	Culex tritaeniorhynchus	http://purl.obolibrary.org/obo/NCBITaxon_53527	Culex <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_53551	Sabethes	http://purl.obolibrary.org/obo/NCBITaxon_53549	Sabethini		
http://purl.obolibrary.org/obo/NCBITaxon_7174	Culex <genus>	http://purl.obolibrary.org/obo/NCBITaxon_53550	Culicini		
http://purl.obolibrary.org/obo/NCBITaxon_620	Shigella	http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_590	Salmonella	http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2890311	Klebsiella/Raoultella group	http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_3044472	Orthoherpesviridae	http://purl.obolibrary.org/obo/NCBITaxon_548681	Herpesvirales		
http://purl.obolibrary.org/obo/NCBITaxon_5501	Coccidioides immitis	http://purl.obolibrary.org/obo/NCBITaxon_5500	Coccidioides		
http://purl.obolibrary.org/obo/NCBITaxon_5970	Exophiala dermatitidis	http://purl.obolibrary.org/obo/NCBITaxon_5583	Exophiala		
http://purl.obolibrary.org/obo/NCBITaxon_86056	Rhinocladiella mackenziei	http://purl.obolibrary.org/obo/NCBITaxon_5587	Rhinocladiella		
http://purl.obolibrary.org/obo/NCBITaxon_5593	Microascaceae	http://purl.obolibrary.org/obo/NCBITaxon_5592	Microascales		
http://purl.obolibrary.org/obo/NCBITaxon_41687	Scedosporium	http://purl.obolibrary.org/obo/NCBITaxon_5593	Microascaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2704647	Metakinetoplastina	http://purl.obolibrary.org/obo/NCBITaxon_5653	Kinetoplastea		
http://purl.obolibrary.org/obo/NCBITaxon_39824	Klebsiella granulomatis	http://purl.obolibrary.org/obo/NCBITaxon_570	Klebsiella		
http://purl.obolibrary.org/obo/NCBITaxon_3390273	Klebsiella pneumoniae complex	http://purl.obolibrary.org/obo/NCBITaxon_570	Klebsiella		
http://purl.obolibrary.org/obo/NCBITaxon_34632	Rhipicephalus sanguineus	http://purl.obolibrary.org/obo/NCBITaxon_578835	Rhipicephalus sanguineus group		
http://purl.obolibrary.org/obo/NCBITaxon_1280412	Conoidasida	http://purl.obolibrary.org/obo/NCBITaxon_5794	Apicomplexa		
http://purl.obolibrary.org/obo/NCBITaxon_422676	Aconoidasida	http://purl.obolibrary.org/obo/NCBITaxon_5794	Apicomplexa		
http://purl.obolibrary.org/obo/NCBITaxon_75739	Eucoccidiorida	http://purl.obolibrary.org/obo/NCBITaxon_5796	Coccidia		
http://purl.obolibrary.org/obo/NCBITaxon_78536	Euphyllophyta	http://purl.obolibrary.org/obo/NCBITaxon_58023	Tracheophyta		
http://purl.obolibrary.org/obo/NCBITaxon_3398	Magnoliopsida	http://purl.obolibrary.org/obo/NCBITaxon_58024	Spermatophyta		
http://purl.obolibrary.org/obo/NCBITaxon_5810	Toxoplasma	http://purl.obolibrary.org/obo/NCBITaxon_5809	Sarcocystidae		
http://purl.obolibrary.org/obo/NCBITaxon_242060	Cystoisospora	http://purl.obolibrary.org/obo/NCBITaxon_5809	Sarcocystidae		
http://purl.obolibrary.org/obo/NCBITaxon_5811	Toxoplasma gondii	http://purl.obolibrary.org/obo/NCBITaxon_5810	Toxoplasma		
http://purl.obolibrary.org/obo/NCBITaxon_1639119	Plasmodiidae	http://purl.obolibrary.org/obo/NCBITaxon_5819	Haemosporida		
http://purl.obolibrary.org/obo/NCBITaxon_41820	Culicoides <genus>	http://purl.obolibrary.org/obo/NCBITaxon_58262	Culicoidini		
http://purl.obolibrary.org/obo/NCBITaxon_59142	funestus group	http://purl.obolibrary.org/obo/NCBITaxon_59140	Myzomyia		
http://purl.obolibrary.org/obo/NCBITaxon_62324	Anopheles funestus	http://purl.obolibrary.org/obo/NCBITaxon_59142	funestus group		
http://purl.obolibrary.org/obo/NCBITaxon_27458	Chrysops	http://purl.obolibrary.org/obo/NCBITaxon_59848	Chrysopsini		
http://purl.obolibrary.org/obo/NCBITaxon_36734	Unikaryonidae	http://purl.obolibrary.org/obo/NCBITaxon_6032	Apansporoblastina		
http://purl.obolibrary.org/obo/NCBITaxon_27973	Encephalitozoon hellem	http://purl.obolibrary.org/obo/NCBITaxon_6033	Encephalitozoon		
http://purl.obolibrary.org/obo/NCBITaxon_58839	Encephalitozoon intestinalis	http://purl.obolibrary.org/obo/NCBITaxon_6033	Encephalitozoon		
http://purl.obolibrary.org/obo/NCBITaxon_6035	Encephalitozoon cuniculi	http://purl.obolibrary.org/obo/NCBITaxon_6033	Encephalitozoon		
http://purl.obolibrary.org/obo/NCBITaxon_33213	Bilateria	http://purl.obolibrary.org/obo/NCBITaxon_6072	Eumetazoa		
http://purl.obolibrary.org/obo/NCBITaxon_6073	Cnidaria	http://purl.obolibrary.org/obo/NCBITaxon_6072	Eumetazoa		
http://purl.obolibrary.org/obo/NCBITaxon_6199	Cestoda	http://purl.obolibrary.org/obo/NCBITaxon_6157	Platyhelminthes		
http://purl.obolibrary.org/obo/NCBITaxon_6178	Trematoda	http://purl.obolibrary.org/obo/NCBITaxon_6157	Platyhelminthes		
http://purl.obolibrary.org/obo/NCBITaxon_6200	Eucestoda	http://purl.obolibrary.org/obo/NCBITaxon_6199	Cestoda		
http://purl.obolibrary.org/obo/NCBITaxon_621	Shigella boydii	http://purl.obolibrary.org/obo/NCBITaxon_620	Shigella		
http://purl.obolibrary.org/obo/NCBITaxon_6201	Cyclophyllidea	http://purl.obolibrary.org/obo/NCBITaxon_6200	Eucestoda		
http://purl.obolibrary.org/obo/NCBITaxon_1224679	Diphyllobothriidea	http://purl.obolibrary.org/obo/NCBITaxon_6200	Eucestoda		
http://purl.obolibrary.org/obo/NCBITaxon_6208	Taeniidae	http://purl.obolibrary.org/obo/NCBITaxon_6201	Cyclophyllidea		
http://purl.obolibrary.org/obo/NCBITaxon_6202	Taenia	http://purl.obolibrary.org/obo/NCBITaxon_6208	Taeniidae		
http://purl.obolibrary.org/obo/NCBITaxon_6209	Echinococcus	http://purl.obolibrary.org/obo/NCBITaxon_6208	Taeniidae		
http://purl.obolibrary.org/obo/NCBITaxon_119088	Enoplea	http://purl.obolibrary.org/obo/NCBITaxon_6231	Nematoda		
http://purl.obolibrary.org/obo/NCBITaxon_119089	Chromadorea	http://purl.obolibrary.org/obo/NCBITaxon_6231	Nematoda		
http://purl.obolibrary.org/obo/NCBITaxon_33256	Ascaridoidea	http://purl.obolibrary.org/obo/NCBITaxon_6249	Ascaridomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_46682	Heterakoidea	http://purl.obolibrary.org/obo/NCBITaxon_6249	Ascaridomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_6268	Anisakis	http://purl.obolibrary.org/obo/NCBITaxon_6267	Anisakidae		
http://purl.obolibrary.org/obo/NCBITaxon_644710	Anisakis simplex complex	http://purl.obolibrary.org/obo/NCBITaxon_6268	Anisakis		
http://purl.obolibrary.org/obo/NCBITaxon_1649845	Yersinia pseudotuberculosis complex	http://purl.obolibrary.org/obo/NCBITaxon_629	Yersinia <enterobacteria>		
http://purl.obolibrary.org/obo/NCBITaxon_630	Yersinia enterocolitica	http://purl.obolibrary.org/obo/NCBITaxon_629	Yersinia <enterobacteria>		
http://purl.obolibrary.org/obo/NCBITaxon_455381	Capillariidae	http://purl.obolibrary.org/obo/NCBITaxon_6329	Trichinellida		
http://purl.obolibrary.org/obo/NCBITaxon_119093	Trichuridae	http://purl.obolibrary.org/obo/NCBITaxon_6329	Trichinellida		
http://purl.obolibrary.org/obo/NCBITaxon_6332	Trichinellidae	http://purl.obolibrary.org/obo/NCBITaxon_6329	Trichinellida		
http://purl.obolibrary.org/obo/NCBITaxon_63672	Turbo	http://purl.obolibrary.org/obo/NCBITaxon_63671	Turbinidae		
http://purl.obolibrary.org/obo/NCBITaxon_133423	Batillus	http://purl.obolibrary.org/obo/NCBITaxon_63672	Turbo		
http://purl.obolibrary.org/obo/NCBITaxon_6448	Gastropoda	http://purl.obolibrary.org/obo/NCBITaxon_6447	Mollusca		
http://purl.obolibrary.org/obo/NCBITaxon_6269	Anisakis simplex	http://purl.obolibrary.org/obo/NCBITaxon_644710	Anisakis simplex complex		
http://purl.obolibrary.org/obo/NCBITaxon_216275	Vetigastropoda	http://purl.obolibrary.org/obo/NCBITaxon_6448	Gastropoda		
http://purl.obolibrary.org/obo/NCBITaxon_139	Borreliella burgdorferi	http://purl.obolibrary.org/obo/NCBITaxon_64895	Borreliella		
http://purl.obolibrary.org/obo/NCBITaxon_197563	Mandibulata	http://purl.obolibrary.org/obo/NCBITaxon_6656	Arthropoda		
http://purl.obolibrary.org/obo/NCBITaxon_6843	Chelicerata	http://purl.obolibrary.org/obo/NCBITaxon_6656	Arthropoda		
http://purl.obolibrary.org/obo/NCBITaxon_72041	Eumalacostraca	http://purl.obolibrary.org/obo/NCBITaxon_6681	Malacostraca		
http://purl.obolibrary.org/obo/NCBITaxon_6683	Decapoda	http://purl.obolibrary.org/obo/NCBITaxon_6682	Eucarida		
http://purl.obolibrary.org/obo/NCBITaxon_6684	Dendrobranchiata	http://purl.obolibrary.org/obo/NCBITaxon_6683	Decapoda		
http://purl.obolibrary.org/obo/NCBITaxon_6692	Pleocyemata	http://purl.obolibrary.org/obo/NCBITaxon_6683	Decapoda		
http://purl.obolibrary.org/obo/NCBITaxon_111520	Penaeoidea	http://purl.obolibrary.org/obo/NCBITaxon_6684	Dendrobranchiata		
http://purl.obolibrary.org/obo/NCBITaxon_133894	Penaeus	http://purl.obolibrary.org/obo/NCBITaxon_6685	Penaeidae		
http://purl.obolibrary.org/obo/NCBITaxon_6752	Brachyura	http://purl.obolibrary.org/obo/NCBITaxon_6692	Pleocyemata		
http://purl.obolibrary.org/obo/NCBITaxon_116704	Eubrachyura	http://purl.obolibrary.org/obo/NCBITaxon_6752	Brachyura		
http://purl.obolibrary.org/obo/NCBITaxon_85552	Scylla paramamosain	http://purl.obolibrary.org/obo/NCBITaxon_6760	Scylla		
http://purl.obolibrary.org/obo/NCBITaxon_6757	Portunidae	http://purl.obolibrary.org/obo/NCBITaxon_6774	Portunoidea		
http://purl.obolibrary.org/obo/NCBITaxon_6854	Arachnida	http://purl.obolibrary.org/obo/NCBITaxon_6843	Chelicerata		
http://purl.obolibrary.org/obo/NCBITaxon_28221	Deltaproteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_68525	delta/epsilon subdivisions		
http://purl.obolibrary.org/obo/NCBITaxon_6933	Acari	http://purl.obolibrary.org/obo/NCBITaxon_6854	Arachnida		
http://purl.obolibrary.org/obo/NCBITaxon_29189	Ammonia	http://purl.obolibrary.org/obo/NCBITaxon_69034	Rotaliidae		
http://purl.obolibrary.org/obo/NCBITaxon_6934	Parasitiformes	http://purl.obolibrary.org/obo/NCBITaxon_6933	Acari		
http://purl.obolibrary.org/obo/NCBITaxon_6946	Acariformes	http://purl.obolibrary.org/obo/NCBITaxon_6933	Acari		
http://purl.obolibrary.org/obo/NCBITaxon_6935	Ixodida	http://purl.obolibrary.org/obo/NCBITaxon_6934	Parasitiformes		
http://purl.obolibrary.org/obo/NCBITaxon_297308	Ixodoidea	http://purl.obolibrary.org/obo/NCBITaxon_6935	Ixodida		
http://purl.obolibrary.org/obo/NCBITaxon_2945031	Ornithodorinae	http://purl.obolibrary.org/obo/NCBITaxon_6936	Argasidae		
http://purl.obolibrary.org/obo/NCBITaxon_140564	Ornithodoros parkeri	http://purl.obolibrary.org/obo/NCBITaxon_6937	Ornithodoros		
http://purl.obolibrary.org/obo/NCBITaxon_69826	Ornithodoros savignyi	http://purl.obolibrary.org/obo/NCBITaxon_6937	Ornithodoros		
http://purl.obolibrary.org/obo/NCBITaxon_693766	Anemiaceae	http://purl.obolibrary.org/obo/NCBITaxon_693762	Schizaeales		
http://purl.obolibrary.org/obo/NCBITaxon_12939	Anemia	http://purl.obolibrary.org/obo/NCBITaxon_693766	Anemiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_426438	Hyalomminae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_426439	Haemaphysalinae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_426441	Amblyomminae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_426442	Ixodinae	http://purl.obolibrary.org/obo/NCBITaxon_6939	Ixodidae		
http://purl.obolibrary.org/obo/NCBITaxon_2509494	Merbecovirus	http://purl.obolibrary.org/obo/NCBITaxon_694002	Betacoronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2509511	Sarbecovirus	http://purl.obolibrary.org/obo/NCBITaxon_694002	Betacoronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2901879	Severe acute respiratory syndrome coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_694009	Severe acute respiratory syndrome-related coronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_34607	Amblyomma cajennense	http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma		
http://purl.obolibrary.org/obo/NCBITaxon_34609	Amblyomma maculatum	http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma		
http://purl.obolibrary.org/obo/NCBITaxon_6943	Amblyomma americanum	http://purl.obolibrary.org/obo/NCBITaxon_6942	Amblyomma		
http://purl.obolibrary.org/obo/NCBITaxon_83136	Trombidiformes	http://purl.obolibrary.org/obo/NCBITaxon_6946	Acariformes		
http://purl.obolibrary.org/obo/NCBITaxon_83137	Sarcoptiformes	http://purl.obolibrary.org/obo/NCBITaxon_6946	Acariformes		
http://purl.obolibrary.org/obo/NCBITaxon_83138	Anystina	http://purl.obolibrary.org/obo/NCBITaxon_6947	Prostigmata		
http://purl.obolibrary.org/obo/NCBITaxon_83145	Eleutherengona	http://purl.obolibrary.org/obo/NCBITaxon_6947	Prostigmata		
http://purl.obolibrary.org/obo/NCBITaxon_784	Orientia tsutsugamushi	http://purl.obolibrary.org/obo/NCBITaxon_69474	Orientia		
http://purl.obolibrary.org/obo/NCBITaxon_50557	Insecta	http://purl.obolibrary.org/obo/NCBITaxon_6960	Hexapoda		
http://purl.obolibrary.org/obo/NCBITaxon_713	Actinobacillus	http://purl.obolibrary.org/obo/NCBITaxon_712	Pasteurellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_724	Haemophilus	http://purl.obolibrary.org/obo/NCBITaxon_712	Pasteurellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_745	Pasteurella	http://purl.obolibrary.org/obo/NCBITaxon_712	Pasteurellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_91827	Gunneridae	http://purl.obolibrary.org/obo/NCBITaxon_71240	eudicotyledons		
http://purl.obolibrary.org/obo/NCBITaxon_91888	lamiids	http://purl.obolibrary.org/obo/NCBITaxon_71274	asterids		
http://purl.obolibrary.org/obo/NCBITaxon_91835	fabids	http://purl.obolibrary.org/obo/NCBITaxon_71275	rosids		
http://purl.obolibrary.org/obo/NCBITaxon_723	Actinobacillus ureae	http://purl.obolibrary.org/obo/NCBITaxon_713	Actinobacillus		
http://purl.obolibrary.org/obo/NCBITaxon_7148	Nematocera	http://purl.obolibrary.org/obo/NCBITaxon_7147	Diptera		
http://purl.obolibrary.org/obo/NCBITaxon_7203	Brachycera	http://purl.obolibrary.org/obo/NCBITaxon_7147	Diptera		
http://purl.obolibrary.org/obo/NCBITaxon_43786	Culicomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7148	Nematocera		
http://purl.obolibrary.org/obo/NCBITaxon_43787	Psychodomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7148	Nematocera		
http://purl.obolibrary.org/obo/NCBITaxon_28556	Pleosporaceae	http://purl.obolibrary.org/obo/NCBITaxon_715340	Pleosporineae		
http://purl.obolibrary.org/obo/NCBITaxon_43816	Anophelinae	http://purl.obolibrary.org/obo/NCBITaxon_7157	Culicidae		
http://purl.obolibrary.org/obo/NCBITaxon_43817	Culicinae	http://purl.obolibrary.org/obo/NCBITaxon_7157	Culicidae		
http://purl.obolibrary.org/obo/NCBITaxon_147541	Dothideomycetes	http://purl.obolibrary.org/obo/NCBITaxon_715962	dothideomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_147550	Sordariomycetes	http://purl.obolibrary.org/obo/NCBITaxon_715989	sordariomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_147537	Saccharomycotina	http://purl.obolibrary.org/obo/NCBITaxon_716545	saccharomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_147538	Pezizomycotina	http://purl.obolibrary.org/obo/NCBITaxon_716545	saccharomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_147545	Eurotiomycetes	http://purl.obolibrary.org/obo/NCBITaxon_716546	leotiomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_715962	dothideomyceta	http://purl.obolibrary.org/obo/NCBITaxon_716546	leotiomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_715989	sordariomyceta	http://purl.obolibrary.org/obo/NCBITaxon_716546	leotiomyceta		
http://purl.obolibrary.org/obo/NCBITaxon_7198	Phlebotominae	http://purl.obolibrary.org/obo/NCBITaxon_7197	Psychodidae		
http://purl.obolibrary.org/obo/NCBITaxon_13203	Phlebotomus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_7198	Phlebotominae		
http://purl.obolibrary.org/obo/NCBITaxon_43733	Muscomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7203	Brachycera		
http://purl.obolibrary.org/obo/NCBITaxon_43735	Tabanomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7203	Brachycera		
http://purl.obolibrary.org/obo/NCBITaxon_6682	Eucarida	http://purl.obolibrary.org/obo/NCBITaxon_72041	Eumalacostraca		
http://purl.obolibrary.org/obo/NCBITaxon_43920	Chrysopsinae	http://purl.obolibrary.org/obo/NCBITaxon_7205	Tabanidae		
http://purl.obolibrary.org/obo/NCBITaxon_3754	Prunus	http://purl.obolibrary.org/obo/NCBITaxon_721805	Amygdaleae		
http://purl.obolibrary.org/obo/NCBITaxon_3749	Malus	http://purl.obolibrary.org/obo/NCBITaxon_721813	Maleae		
http://purl.obolibrary.org/obo/NCBITaxon_34064	Francisellaceae	http://purl.obolibrary.org/obo/NCBITaxon_72273	Thiotrichales		
http://purl.obolibrary.org/obo/NCBITaxon_194	Campylobacter	http://purl.obolibrary.org/obo/NCBITaxon_72294	Campylobacteraceae		
http://purl.obolibrary.org/obo/NCBITaxon_730	[Haemophilus] ducreyi	http://purl.obolibrary.org/obo/NCBITaxon_724	Haemophilus		
http://purl.obolibrary.org/obo/NCBITaxon_747	Pasteurella multocida	http://purl.obolibrary.org/obo/NCBITaxon_745	Pasteurella		
http://purl.obolibrary.org/obo/NCBITaxon_33340	Neoptera	http://purl.obolibrary.org/obo/NCBITaxon_7496	Pterygota <insects>		
http://purl.obolibrary.org/obo/NCBITaxon_140693	Pulicomorpha	http://purl.obolibrary.org/obo/NCBITaxon_7509	Siphonaptera		
http://purl.obolibrary.org/obo/NCBITaxon_476427	Xenopsyllinae	http://purl.obolibrary.org/obo/NCBITaxon_7511	Pulicidae		
http://purl.obolibrary.org/obo/NCBITaxon_423054	Eimeriorina	http://purl.obolibrary.org/obo/NCBITaxon_75739	Eucoccidiorida		
http://purl.obolibrary.org/obo/NCBITaxon_775	Rickettsiaceae	http://purl.obolibrary.org/obo/NCBITaxon_766	Rickettsiales		
http://purl.obolibrary.org/obo/NCBITaxon_942	Anaplasmataceae	http://purl.obolibrary.org/obo/NCBITaxon_766	Rickettsiales		
http://purl.obolibrary.org/obo/NCBITaxon_106179	phagocytophilum group	http://purl.obolibrary.org/obo/NCBITaxon_768	Anaplasma		
http://purl.obolibrary.org/obo/NCBITaxon_2499398	Arnidovirineae	http://purl.obolibrary.org/obo/NCBITaxon_76804	Nidovirales		
http://purl.obolibrary.org/obo/NCBITaxon_2499403	Tornidovirineae	http://purl.obolibrary.org/obo/NCBITaxon_76804	Nidovirales		
http://purl.obolibrary.org/obo/NCBITaxon_2499399	Cornidovirineae	http://purl.obolibrary.org/obo/NCBITaxon_76804	Nidovirales		
http://purl.obolibrary.org/obo/NCBITaxon_89593	Craniata <chordates>	http://purl.obolibrary.org/obo/NCBITaxon_7711	Chordata		
http://purl.obolibrary.org/obo/NCBITaxon_7712	Tunicata	http://purl.obolibrary.org/obo/NCBITaxon_7711	Chordata		
http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella	http://purl.obolibrary.org/obo/NCBITaxon_772	Bartonellaceae		
http://purl.obolibrary.org/obo/NCBITaxon_38323	Bartonella henselae	http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella		
http://purl.obolibrary.org/obo/NCBITaxon_774	Bartonella bacilliformis	http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella		
http://purl.obolibrary.org/obo/NCBITaxon_803	Bartonella quintana	http://purl.obolibrary.org/obo/NCBITaxon_773	Bartonella		
http://purl.obolibrary.org/obo/NCBITaxon_7776	Gnathostomata <vertebrates>	http://purl.obolibrary.org/obo/NCBITaxon_7742	Vertebrata <vertebrates>		
http://purl.obolibrary.org/obo/NCBITaxon_1476529	Cyclostomata	http://purl.obolibrary.org/obo/NCBITaxon_7742	Vertebrata <vertebrates>		
http://purl.obolibrary.org/obo/NCBITaxon_33988	Rickettsieae	http://purl.obolibrary.org/obo/NCBITaxon_775	Rickettsiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_777	Coxiella burnetii	http://purl.obolibrary.org/obo/NCBITaxon_776	Coxiella <g-proteobacteria>		
http://purl.obolibrary.org/obo/NCBITaxon_1773	Mycobacterium tuberculosis	http://purl.obolibrary.org/obo/NCBITaxon_77643	Mycobacterium tuberculosis complex		
http://purl.obolibrary.org/obo/NCBITaxon_117570	Teleostomi	http://purl.obolibrary.org/obo/NCBITaxon_7776	Gnathostomata <vertebrates>		
http://purl.obolibrary.org/obo/NCBITaxon_7777	Chondrichthyes	http://purl.obolibrary.org/obo/NCBITaxon_7776	Gnathostomata <vertebrates>		
http://purl.obolibrary.org/obo/NCBITaxon_241806	Polypodiopsida	http://purl.obolibrary.org/obo/NCBITaxon_78536	Euphyllophyta		
http://purl.obolibrary.org/obo/NCBITaxon_58024	Spermatophyta	http://purl.obolibrary.org/obo/NCBITaxon_78536	Euphyllophyta		
http://purl.obolibrary.org/obo/NCBITaxon_186623	Actinopteri	http://purl.obolibrary.org/obo/NCBITaxon_7898	Actinopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_30727	Cyprinoidei	http://purl.obolibrary.org/obo/NCBITaxon_7952	Cypriniformes		
http://purl.obolibrary.org/obo/NCBITaxon_2743694	Cyprininae	http://purl.obolibrary.org/obo/NCBITaxon_7953	Cyprinidae		
http://purl.obolibrary.org/obo/NCBITaxon_7955	Danio rerio	http://purl.obolibrary.org/obo/NCBITaxon_7954	Danio		
http://purl.obolibrary.org/obo/NCBITaxon_7962	Cyprinus carpio	http://purl.obolibrary.org/obo/NCBITaxon_7961	Cyprinus		
http://purl.obolibrary.org/obo/NCBITaxon_8015	Salmonidae	http://purl.obolibrary.org/obo/NCBITaxon_8006	Salmoniformes		
http://purl.obolibrary.org/obo/NCBITaxon_504568	Salmoninae	http://purl.obolibrary.org/obo/NCBITaxon_8015	Salmonidae		
http://purl.obolibrary.org/obo/NCBITaxon_8022	Oncorhynchus mykiss	http://purl.obolibrary.org/obo/NCBITaxon_8016	Oncorhynchus		
http://purl.obolibrary.org/obo/NCBITaxon_74940	Oncorhynchus tshawytscha	http://purl.obolibrary.org/obo/NCBITaxon_8016	Oncorhynchus		
http://purl.obolibrary.org/obo/NCBITaxon_8030	Salmo salar	http://purl.obolibrary.org/obo/NCBITaxon_8028	Salmo		
http://purl.obolibrary.org/obo/NCBITaxon_1489845	Gadoidei	http://purl.obolibrary.org/obo/NCBITaxon_8043	Gadiformes		
http://purl.obolibrary.org/obo/NCBITaxon_8048	Gadus	http://purl.obolibrary.org/obo/NCBITaxon_8045	Gadidae		
http://purl.obolibrary.org/obo/NCBITaxon_8049	Gadus morhua	http://purl.obolibrary.org/obo/NCBITaxon_8048	Gadus		
http://purl.obolibrary.org/obo/NCBITaxon_119060	Burkholderiaceae	http://purl.obolibrary.org/obo/NCBITaxon_80840	Burkholderiales		
http://purl.obolibrary.org/obo/NCBITaxon_506	Alcaligenaceae	http://purl.obolibrary.org/obo/NCBITaxon_80840	Burkholderiales		
http://purl.obolibrary.org/obo/NCBITaxon_1113537	Chlamydia/Chlamydophila group	http://purl.obolibrary.org/obo/NCBITaxon_809	Chlamydiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_813	Chlamydia trachomatis	http://purl.obolibrary.org/obo/NCBITaxon_810	Chlamydia		
http://purl.obolibrary.org/obo/NCBITaxon_89940	Cladophialophora bantiana	http://purl.obolibrary.org/obo/NCBITaxon_82105	Cladophialophora		
http://purl.obolibrary.org/obo/NCBITaxon_1338369	Dipnotetrapodomorpha	http://purl.obolibrary.org/obo/NCBITaxon_8287	Sarcopterygii		
http://purl.obolibrary.org/obo/NCBITaxon_6947	Prostigmata	http://purl.obolibrary.org/obo/NCBITaxon_83136	Trombidiformes		
http://purl.obolibrary.org/obo/NCBITaxon_83141	Parasitengona	http://purl.obolibrary.org/obo/NCBITaxon_83138	Anystina		
http://purl.obolibrary.org/obo/NCBITaxon_92088	Trombiculoidea	http://purl.obolibrary.org/obo/NCBITaxon_83141	Parasitengona		
http://purl.obolibrary.org/obo/NCBITaxon_32561	Sauria	http://purl.obolibrary.org/obo/NCBITaxon_8457	Sauropsida		
http://purl.obolibrary.org/obo/NCBITaxon_436486	Dinosauria	http://purl.obolibrary.org/obo/NCBITaxon_8492	Archosauria		
http://purl.obolibrary.org/obo/NCBITaxon_1653	Corynebacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_85007	Mycobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_1762	Mycobacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_85007	Mycobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_85025	Nocardiaceae	http://purl.obolibrary.org/obo/NCBITaxon_85007	Mycobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_1817	Nocardia	http://purl.obolibrary.org/obo/NCBITaxon_85025	Nocardiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_7496	Pterygota <insects>	http://purl.obolibrary.org/obo/NCBITaxon_85512	Dicondylia		
http://purl.obolibrary.org/obo/NCBITaxon_30005	Anoplura	http://purl.obolibrary.org/obo/NCBITaxon_85819	Phthiraptera		
http://purl.obolibrary.org/obo/NCBITaxon_10090	Mus musculus	http://purl.obolibrary.org/obo/NCBITaxon_862507	Mus <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_1392	Bacillus anthracis	http://purl.obolibrary.org/obo/NCBITaxon_86661	Bacillus cereus group		
http://purl.obolibrary.org/obo/NCBITaxon_8825	Neognathae	http://purl.obolibrary.org/obo/NCBITaxon_8782	Aves		
http://purl.obolibrary.org/obo/NCBITaxon_8783	Palaeognathae	http://purl.obolibrary.org/obo/NCBITaxon_8782	Aves		
http://purl.obolibrary.org/obo/NCBITaxon_1549675	Galloanserae	http://purl.obolibrary.org/obo/NCBITaxon_8825	Neognathae		
http://purl.obolibrary.org/obo/NCBITaxon_6656	Arthropoda	http://purl.obolibrary.org/obo/NCBITaxon_88770	Panarthropoda		
http://purl.obolibrary.org/obo/NCBITaxon_7742	Vertebrata <vertebrates>	http://purl.obolibrary.org/obo/NCBITaxon_89593	Craniata <chordates>		
http://purl.obolibrary.org/obo/NCBITaxon_9005	Phasianidae	http://purl.obolibrary.org/obo/NCBITaxon_8976	Galliformes		
http://purl.obolibrary.org/obo/NCBITaxon_12066	Coxsackievirus	http://purl.obolibrary.org/obo/NCBITaxon_90010	unclassified Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_33758	Echovirus	http://purl.obolibrary.org/obo/NCBITaxon_90010	unclassified Enterovirus		
http://purl.obolibrary.org/obo/NCBITaxon_9072	Phasianinae	http://purl.obolibrary.org/obo/NCBITaxon_9005	Phasianidae		
http://purl.obolibrary.org/obo/NCBITaxon_466552	Meleagridinae	http://purl.obolibrary.org/obo/NCBITaxon_9005	Phasianidae		
http://purl.obolibrary.org/obo/NCBITaxon_9031	Gallus gallus	http://purl.obolibrary.org/obo/NCBITaxon_9030	Gallus		
http://purl.obolibrary.org/obo/NCBITaxon_9030	Gallus	http://purl.obolibrary.org/obo/NCBITaxon_9072	Phasianinae		
http://purl.obolibrary.org/obo/NCBITaxon_1279	Staphylococcus	http://purl.obolibrary.org/obo/NCBITaxon_90964	Staphylococcaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1385	Bacillales	http://purl.obolibrary.org/obo/NCBITaxon_91061	Bacilli		
http://purl.obolibrary.org/obo/NCBITaxon_186826	Lactobacillales	http://purl.obolibrary.org/obo/NCBITaxon_91061	Bacilli		
http://purl.obolibrary.org/obo/NCBITaxon_543	Enterobacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_91347	Enterobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_1903410	Pectobacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_91347	Enterobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_1903414	Morganellaceae	http://purl.obolibrary.org/obo/NCBITaxon_91347	Enterobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_1903411	Yersiniaceae	http://purl.obolibrary.org/obo/NCBITaxon_91347	Enterobacterales		
http://purl.obolibrary.org/obo/NCBITaxon_9845	Ruminantia	http://purl.obolibrary.org/obo/NCBITaxon_91561	Artiodactyla		
http://purl.obolibrary.org/obo/NCBITaxon_2653789	Whippomorpha	http://purl.obolibrary.org/obo/NCBITaxon_91561	Artiodactyla		
http://purl.obolibrary.org/obo/NCBITaxon_35497	Suina	http://purl.obolibrary.org/obo/NCBITaxon_91561	Artiodactyla		
http://purl.obolibrary.org/obo/NCBITaxon_9834	Tylopoda	http://purl.obolibrary.org/obo/NCBITaxon_91561	Artiodactyla		
http://purl.obolibrary.org/obo/NCBITaxon_1437201	Pentapetalae	http://purl.obolibrary.org/obo/NCBITaxon_91827	Gunneridae		
http://purl.obolibrary.org/obo/NCBITaxon_3744	Rosales	http://purl.obolibrary.org/obo/NCBITaxon_91835	fabids		
http://purl.obolibrary.org/obo/NCBITaxon_4069	Solanales	http://purl.obolibrary.org/obo/NCBITaxon_91888	lamiids		
http://purl.obolibrary.org/obo/NCBITaxon_92251	Trombiculidae	http://purl.obolibrary.org/obo/NCBITaxon_92088	Trombiculoidea		
http://purl.obolibrary.org/obo/NCBITaxon_279271	Leptotrombidium	http://purl.obolibrary.org/obo/NCBITaxon_92251	Trombiculidae		
http://purl.obolibrary.org/obo/NCBITaxon_715340	Pleosporineae	http://purl.obolibrary.org/obo/NCBITaxon_92860	Pleosporales		
http://purl.obolibrary.org/obo/NCBITaxon_1437010	Boreoeutheria	http://purl.obolibrary.org/obo/NCBITaxon_9347	Eutheria		
http://purl.obolibrary.org/obo/NCBITaxon_311790	Afrotheria	http://purl.obolibrary.org/obo/NCBITaxon_9347	Eutheria		
http://purl.obolibrary.org/obo/NCBITaxon_9348	Xenarthra	http://purl.obolibrary.org/obo/NCBITaxon_9347	Eutheria		
http://purl.obolibrary.org/obo/NCBITaxon_33993	Neorickettsia	http://purl.obolibrary.org/obo/NCBITaxon_942	Anaplasmataceae		
http://purl.obolibrary.org/obo/NCBITaxon_768	Anaplasma	http://purl.obolibrary.org/obo/NCBITaxon_942	Anaplasmataceae		
http://purl.obolibrary.org/obo/NCBITaxon_943	Ehrlichia	http://purl.obolibrary.org/obo/NCBITaxon_942	Anaplasmataceae		
http://purl.obolibrary.org/obo/NCBITaxon_106178	canis group	http://purl.obolibrary.org/obo/NCBITaxon_943	Ehrlichia		
http://purl.obolibrary.org/obo/NCBITaxon_35500	Pecora	http://purl.obolibrary.org/obo/NCBITaxon_9845	Ruminantia		
http://purl.obolibrary.org/obo/NCBITaxon_27592	Bovinae	http://purl.obolibrary.org/obo/NCBITaxon_9895	Bovidae		
http://purl.obolibrary.org/obo/NCBITaxon_9963	Caprinae	http://purl.obolibrary.org/obo/NCBITaxon_9895	Bovidae		
http://purl.obolibrary.org/obo/NCBITaxon_9915	Bos indicus	http://purl.obolibrary.org/obo/NCBITaxon_9903	Bos		
http://purl.obolibrary.org/obo/NCBITaxon_9913	Bos taurus	http://purl.obolibrary.org/obo/NCBITaxon_9903	Bos		
http://purl.obolibrary.org/obo/NCBITaxon_9925	Capra hircus	http://purl.obolibrary.org/obo/NCBITaxon_9922	Capra		
http://purl.obolibrary.org/obo/NCBITaxon_48167	Capra falconeri	http://purl.obolibrary.org/obo/NCBITaxon_9922	Capra		
http://purl.obolibrary.org/obo/NCBITaxon_9922	Capra	http://purl.obolibrary.org/obo/NCBITaxon_9963	Caprinae		
http://purl.obolibrary.org/obo/NCBITaxon_9935	Ovis	http://purl.obolibrary.org/obo/NCBITaxon_9963	Caprinae		
http://purl.obolibrary.org/obo/NCBITaxon_33553	Sciuromorpha	http://purl.obolibrary.org/obo/NCBITaxon_9989	Rodentia		
http://purl.obolibrary.org/obo/NCBITaxon_1963758	Myomorpha	http://purl.obolibrary.org/obo/NCBITaxon_9989	Rodentia		
http://purl.obolibrary.org/obo/UBERON_0005928	external naris	http://purl.obolibrary.org/obo/UBERON_0003102	surface structure		
http://purl.obolibrary.org/obo/UBERON_0010425	internal naris	http://purl.obolibrary.org/obo/UBERON_0000003	naris		
http://purl.obolibrary.org/obo/UBERON_0003212	gustatory organ	http://purl.obolibrary.org/obo/UBERON_0000005	chemosensory organ		
http://purl.obolibrary.org/obo/UBERON_0004777	respiratory system submucosa	http://purl.obolibrary.org/obo/UBERON_0000009	submucosa		
http://purl.obolibrary.org/obo/UBERON_0004938	submucosa of biliary tree	http://purl.obolibrary.org/obo/UBERON_0000009	submucosa		
http://purl.obolibrary.org/obo/UBERON_0004943	submucosa of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0000009	submucosa		
http://purl.obolibrary.org/obo/UBERON_0011298	submucosa of fallopian tube	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0018257	submucosa of digestive tract	http://purl.obolibrary.org/obo/UBERON_0000009	submucosa		
http://purl.obolibrary.org/obo/UBERON_0004015	embryonic-extraembryonic boundary	http://purl.obolibrary.org/obo/UBERON_0000015	non-material anatomical boundary		
http://purl.obolibrary.org/obo/UBERON_0006800	anatomical line	http://purl.obolibrary.org/obo/UBERON_0000015	non-material anatomical boundary		
http://purl.obolibrary.org/obo/UBERON_0001301	epididymis	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0002394	bile duct	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0000993	oviduct	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000999	ejaculatory duct	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001000	vas deferens	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0001343	seminiferous tubule of testis	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0001555	digestive tract	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0001837	duct of salivary gland	http://purl.obolibrary.org/obo/UBERON_0003928	digestive system duct		
http://purl.obolibrary.org/obo/UBERON_0001840	semicircular canal	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0001860	endolymphatic duct	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0002392	nasolacrimal duct	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0003890	Mullerian duct	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0003914	epithelial tube	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0004058	biliary ductule	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0005903	duct of seminal vesicle	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0006946	efferent duct	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0006947	male genital duct	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0007105	vitelline duct	http://purl.obolibrary.org/obo/UBERON_0000025	tube		
http://purl.obolibrary.org/obo/UBERON_0004708	paired limb/fin	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0008897	fin	http://purl.obolibrary.org/obo/UBERON_0000026	appendage		
http://purl.obolibrary.org/obo/UBERON_0001253	lamina propria of ureter	http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria		
http://purl.obolibrary.org/obo/UBERON_0001261	lamina propria of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria		
http://purl.obolibrary.org/obo/UBERON_0001974	lamina propria of esophagus	http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria		
http://purl.obolibrary.org/obo/UBERON_0002326	lamina propria of urethra	http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria		
http://purl.obolibrary.org/obo/UBERON_0004779	respiratory system lamina propria	http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria		
http://purl.obolibrary.org/obo/UBERON_0004780	gastrointestinal system lamina propria	http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria		
http://purl.obolibrary.org/obo/UBERON_0004781	gallbladder lamina propria	http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria		
http://purl.obolibrary.org/obo/UBERON_0005205	lamina propria of vagina	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0005334	oral lamina propria	http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria		
http://purl.obolibrary.org/obo/UBERON_0002338	lamina propria of bronchus	http://purl.obolibrary.org/obo/UBERON_0000031	lamina propria of trachea		
http://purl.obolibrary.org/obo/UBERON_0007616	layer of synovial tissue	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0000977	pleura	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0002358	peritoneum	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0001260	serosa of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0001297	serosa of uterus	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001975	serosa of esophagus	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0002095	mesentery	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0002357	serous pericardium	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0004782	gastrointestinal system serosa	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0004783	gallbladder serosa	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0007181	serosa of infundibulum of uterine tube	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0012483	serosa of cloaca	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0012499	serosa of fallopian tube	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_8400021	liver serosa	http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane		
http://purl.obolibrary.org/obo/UBERON_0036553	wall of synovial tendon sheath	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0003701	calcaneal tendon	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0006239	future central tendon	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006670	central tendon of diaphragm	http://purl.obolibrary.org/obo/UBERON_0003837	thoracic segment connective tissue		
http://purl.obolibrary.org/obo/UBERON_0008188	tendon of biceps brachii	http://purl.obolibrary.org/obo/UBERON_0000043	tendon		
http://purl.obolibrary.org/obo/UBERON_0008192	tendon of triceps brachii	http://purl.obolibrary.org/obo/UBERON_0000043	tendon		
http://purl.obolibrary.org/obo/UBERON_0001714	cranial ganglion	http://purl.obolibrary.org/obo/UBERON_0000045	ganglion		
http://purl.obolibrary.org/obo/UBERON_0001800	sensory ganglion	http://purl.obolibrary.org/obo/UBERON_0000045	ganglion		
http://purl.obolibrary.org/obo/UBERON_0003338	ganglion of peripheral nervous system	http://purl.obolibrary.org/obo/UBERON_0000045	ganglion		
http://purl.obolibrary.org/obo/UBERON_0003339	ganglion of central nervous system	http://purl.obolibrary.org/obo/UBERON_0000045	ganglion		
http://purl.obolibrary.org/obo/UBERON_0007134	trunk ganglion	http://purl.obolibrary.org/obo/UBERON_0000045	ganglion		
http://purl.obolibrary.org/obo/UBERON_0000019	camera-type eye	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0000055	vessel		
http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel	http://purl.obolibrary.org/obo/UBERON_0000055	vessel		
http://purl.obolibrary.org/obo/UBERON_0005985	coronary vessel	http://purl.obolibrary.org/obo/UBERON_0000055	vessel		
http://purl.obolibrary.org/obo/UBERON_0010523	microcirculatory vessel	http://purl.obolibrary.org/obo/UBERON_0000055	vessel		
http://purl.obolibrary.org/obo/UBERON_0001765	mammary duct	http://purl.obolibrary.org/obo/UBERON_0003914	epithelial tube		
http://purl.obolibrary.org/obo/UBERON_0003928	digestive system duct	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0006553	renal duct	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0010146	paraurethral duct	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0011831	duct of vestibular gland	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0011845	duct of sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0014719	intralobular duct	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0035074	duct of apocrine sweat gland	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0035050	excretory duct	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0035073	duct of eccrine sweat gland	http://purl.obolibrary.org/obo/UBERON_0000058	duct		
http://purl.obolibrary.org/obo/UBERON_0001811	conjunctiva	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0016435	chest wall	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0000328	gut wall	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0000459	uterine wall	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001256	wall of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0003697	abdominal wall	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0004894	alveolar wall	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0009916	wall of ureter	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0036441	wall of fallopian tube	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0036521	wall of urethra	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0036523	wall of vagina	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0036658	wall of central canal of spinal cord	http://purl.obolibrary.org/obo/UBERON_0005358	ventricle of nervous system		
http://purl.obolibrary.org/obo/UBERON_0036661	wall of ventricular system of brain	http://purl.obolibrary.org/obo/UBERON_0005358	ventricle of nervous system		
http://purl.obolibrary.org/obo/UBERON_0036925	wall of eyeball	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0036990	wall of pharyngotympanic tube	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0037089	wall of orbit	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0037191	wall of membranous labyrinth	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0037237	wall of lacrimal duct	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0035965	wall of blood vessel	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0037144	wall of heart	http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall		
http://purl.obolibrary.org/obo/UBERON_0002486	glottis	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/CL_0000000	cell	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000467	anatomical system	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000045	ganglion	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000345	myelin	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0003037	septum	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0003102	surface structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004370	anterior limiting lamina of cornea	http://purl.obolibrary.org/obo/UBERON_0005769	basement membrane of epithelium		
http://purl.obolibrary.org/obo/UBERON_0004716	conceptus	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005090	muscle structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005160	vestigial structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005389	transparent eye structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005496	neural tube lateral wall	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0007223	osseus cochlea	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0007567	regenerating anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0009856	sac	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0010005	placental labyrinth villous	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0011585	cell condensation	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0014402	sex-specific anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0018254	skeletal musculature	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0034768	morphological feature	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0036304	anatomical border	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_8600038	placental disc	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0035118	material entity in digestive tract	http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000057	urethra	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001987	placenta	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0002411	clitoris	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000020	sense organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0000955	brain	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000997	mammalian vulva	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001043	esophagus	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0003133	reproductive organ	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0005057	immune organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0000094	membrane organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0000171	respiration organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0000211	ligament	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ	http://purl.obolibrary.org/obo/UBERON_0005090	muscle structure		
http://purl.obolibrary.org/obo/UBERON_0001727	taste bud	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001849	membranous labyrinth	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0001850	lacrimal drainage system	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0002097	skin of body	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002328	notochord	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002393	pharyngotympanic tube	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0002530	gland	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0003103	compound organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0003668	synovial bursa	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0004177	hemopoietic organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0005174	dorsal region element	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0005906	serous sac	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0006585	vestibular organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0007196	tracheobronchial tree	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0010001	cell cluster organ	http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster		
http://purl.obolibrary.org/obo/UBERON_0010521	electroreceptor organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_0034681	vocal organ	http://purl.obolibrary.org/obo/UBERON_0000062	organ		
http://purl.obolibrary.org/obo/UBERON_8600017	bronchopulmonary segment	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0035651	glans	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000058	duct	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0001229	renal corpuscle	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0001801	anterior segment of eyeball	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0001802	posterior segment of eyeball	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0004732	segmental subdivision of nervous system	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0006311	chamber of eyeball	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0009911	lobule	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0009912	anatomical lobe	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0010409	ocular surface region	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0011932	pilosebaceous unit	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0014765	crus of diaphragm	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0036150	skin appendage follicle	http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit		
http://purl.obolibrary.org/obo/UBERON_0035831	costal diaphragm	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0000458	endocervix	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001224	renal pelvis	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0001869	cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0006059	falx cerebri	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001257	trigone of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001711	eyelid	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000053	macula lutea	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000060	anatomical wall	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000063	organ subunit	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000074	renal glomerulus	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000440	trabecula	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0000454	cerebral subcortex	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001228	renal papilla	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001230	glomerular capsule	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001251	marginal zone of spleen	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001285	nephron	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001293	outer medulla of kidney	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001294	inner medulla of kidney	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001726	papilla of tongue	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001773	sclera	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001783	optic disc	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001851	cortex	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001862	vestibular labyrinth	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0001896	medulla oblongata	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0002196	adenohypophysis	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0002247	uterine horn	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0003023	pontine tegmentum	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0003215	alveolus	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0003707	sinus of Valsalva	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0003891	stroma	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0003951	ocular fundus	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0003978	valve	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0004151	cardiac chamber	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0004200	kidney pyramid	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0004647	liver lobule	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0005096	descending thin limb	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0005236	osseus labyrinth vestibule	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0005305	thyroid follicle	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0005749	glomerular tuft	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005979	crista terminalis	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0006003	integumentary adnexa	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0006009	cusp of cardiac valve	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0006082	fundus of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0006674	inguinal ring	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0007324	pancreatic lobule	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0008971	left colon	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0009471	dorsum of tongue	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0009745	lymph node medullary cord	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0009883	medullary ray	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0010032	anterior part of tongue	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0010071	layer of tympanic membrane	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0010172	bulb of aorta	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0010305	subdivision of conjunctiva	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0011741	cardiac valve leaflet	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0012249	ectocervix	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0013165	epiglottic vallecula	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0016464	dorsum of nose	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0022275	colic flexure	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0034936	pars plana of ciliary body	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_1000023	spleen pulp	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_8450001	egg follicle	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ	http://purl.obolibrary.org/obo/UBERON_0000064	organ part		
http://purl.obolibrary.org/obo/UBERON_0004729	nematode larval stage	http://purl.obolibrary.org/obo/UBERON_0000069	larval stage		
http://purl.obolibrary.org/obo/UBERON_0001557	upper respiratory tract	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0001728	nasopharynx	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0001558	lower respiratory tract	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0001737	larynx	http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract		
http://purl.obolibrary.org/obo/UBERON_0001948	regional part of spinal cord	http://purl.obolibrary.org/obo/UBERON_0000073	regional part of nervous system		
http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain	http://purl.obolibrary.org/obo/UBERON_0000073	regional part of nervous system		
http://purl.obolibrary.org/obo/UBERON_0004736	metanephric glomerulus	http://purl.obolibrary.org/obo/UBERON_0000074	renal glomerulus		
http://purl.obolibrary.org/obo/UBERON_0004739	pronephric glomerulus	http://purl.obolibrary.org/obo/UBERON_0000074	renal glomerulus		
http://purl.obolibrary.org/obo/UBERON_0005325	mesonephric glomerulus	http://purl.obolibrary.org/obo/UBERON_0000074	renal glomerulus		
http://purl.obolibrary.org/obo/UBERON_0003129	skull	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0001130	vertebral column	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0001270	bony pelvis	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0002517	basicranium	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0003128	cranium	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0004761	cartilaginous neurocranium	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0006077	subdivision of vertebral column	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0006813	nasal skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0010272	hyoid apparatus	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0010323	cranial skeletal system	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0011137	axial skeletal system	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0011138	postcranial axial skeletal system	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0011158	primary subdivision of skull	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0011159	primary subdivision of cranial skeletal system	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0011220	mastoid process of temporal bone	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0011249	appendicular skeletal system	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0012072	palatal part of dermatocranium	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0012074	bony part of hard palate	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0014478	rib skeletal system	http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system		
http://purl.obolibrary.org/obo/UBERON_0000078	mixed ectoderm/mesoderm/endoderm-derived structure	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003279	endothelium of trachea	http://purl.obolibrary.org/obo/UBERON_0001986	endothelium		
http://purl.obolibrary.org/obo/UBERON_0003074	mesonephric duct	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0000084	ureteric bud	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0006190	mesonephric distal tubule	http://purl.obolibrary.org/obo/UBERON_0005330	mesonephric nephron epithelium		
http://purl.obolibrary.org/obo/UBERON_0006192	mesonephric proximal tubule	http://purl.obolibrary.org/obo/UBERON_0005330	mesonephric nephron epithelium		
http://purl.obolibrary.org/obo/UBERON_0010534	primitive mesonephric nephron	http://purl.obolibrary.org/obo/UBERON_0010532	primitive nephron		
http://purl.obolibrary.org/obo/UBERON_0005080	metanephric ureteric bud	http://purl.obolibrary.org/obo/UBERON_0000084	ureteric bud		
http://purl.obolibrary.org/obo/UBERON_0005081	ureter ureteric bud	http://purl.obolibrary.org/obo/UBERON_0000084	ureteric bud		
http://purl.obolibrary.org/obo/UBERON_0008805	gingival groove	http://purl.obolibrary.org/obo/UBERON_0000093	sulcus		
http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain	http://purl.obolibrary.org/obo/UBERON_0000093	sulcus		
http://purl.obolibrary.org/obo/UBERON_0002364	tympanic membrane	http://purl.obolibrary.org/obo/UBERON_0000094	membrane organ		
http://purl.obolibrary.org/obo/UBERON_0001484	articular capsule	http://purl.obolibrary.org/obo/UBERON_0000094	membrane organ		
http://purl.obolibrary.org/obo/UBERON_0002359	fibrous pericardium	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0002360	meninx	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0004772	eyelid tarsus	http://purl.obolibrary.org/obo/UBERON_0000094	membrane organ		
http://purl.obolibrary.org/obo/UBERON_0006518	right lung lobe	http://purl.obolibrary.org/obo/UBERON_0000101	lobe of lung		
http://purl.obolibrary.org/obo/UBERON_0008951	left lung lobe	http://purl.obolibrary.org/obo/UBERON_0000101	lobe of lung		
http://purl.obolibrary.org/obo/UBERON_0004889	lobar bronchus vasculature	http://purl.obolibrary.org/obo/UBERON_0000102	lung vasculature		
http://purl.obolibrary.org/obo/UBERON_0009536	vascular element of left lung	http://purl.obolibrary.org/obo/UBERON_0005629	vascular plexus		
http://purl.obolibrary.org/obo/UBERON_0009537	vascular element of right lung	http://purl.obolibrary.org/obo/UBERON_0005629	vascular plexus		
http://purl.obolibrary.org/obo/UBERON_0000066	fully formed stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000068	embryo stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000069	larval stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000071	death stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000092	post-embryonic stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000106	zygote stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000107	cleavage stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000108	blastula stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000109	gastrula stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000110	neurula stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000111	organogenesis stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000112	sexually immature stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0000113	post-juvenile adult stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0004707	pharyngula stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0007220	late embryonic stage	http://purl.obolibrary.org/obo/UBERON_0000105	life cycle stage		
http://purl.obolibrary.org/obo/UBERON_0003591	lobar bronchus connective tissue	http://purl.obolibrary.org/obo/UBERON_0003592	bronchus connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003615	lung elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003611	respiratory system elastic tissue		
http://purl.obolibrary.org/obo/UBERON_0002051	epithelium of bronchiole	http://purl.obolibrary.org/obo/UBERON_0008397	tracheobronchial epithelium		
http://purl.obolibrary.org/obo/UBERON_0002169	alveolar sac	http://purl.obolibrary.org/obo/UBERON_0007499	epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0002339	epithelium of lobar bronchus	http://purl.obolibrary.org/obo/UBERON_0002031	epithelium of bronchus		
http://purl.obolibrary.org/obo/UBERON_0002341	epithelium of segmental bronchus	http://purl.obolibrary.org/obo/UBERON_0006934	sensory epithelium		
http://purl.obolibrary.org/obo/UBERON_0003364	epithelium of right lung	http://purl.obolibrary.org/obo/UBERON_0000115	lung epithelium		
http://purl.obolibrary.org/obo/UBERON_0003365	epithelium of left lung	http://purl.obolibrary.org/obo/UBERON_0000115	lung epithelium		
http://purl.obolibrary.org/obo/UBERON_0004821	pulmonary alveolus epithelium	http://purl.obolibrary.org/obo/UBERON_0000487	simple squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0013479	lung endothelium	http://purl.obolibrary.org/obo/UBERON_0004702	respiratory system blood vessel endothelium		
http://purl.obolibrary.org/obo/UBERON_0002185	bronchus	http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube		
http://purl.obolibrary.org/obo/UBERON_0003126	trachea	http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube		
http://purl.obolibrary.org/obo/UBERON_0002173	pulmonary alveolar duct	http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube		
http://purl.obolibrary.org/obo/UBERON_0002186	bronchiole	http://purl.obolibrary.org/obo/UBERON_0000117	respiratory tube		
http://purl.obolibrary.org/obo/UBERON_0002076	cuticle of hair	http://purl.obolibrary.org/obo/UBERON_0000119	cell layer		
http://purl.obolibrary.org/obo/UBERON_0002319	mesangium	http://purl.obolibrary.org/obo/UBERON_0000119	cell layer		
http://purl.obolibrary.org/obo/UBERON_0003054	roof plate	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003209	blood nerve barrier	http://purl.obolibrary.org/obo/UBERON_0000119	cell layer		
http://purl.obolibrary.org/obo/UBERON_0004714	septum pellucidum	http://purl.obolibrary.org/obo/UBERON_0000119	cell layer		
http://purl.obolibrary.org/obo/UBERON_0005170	granulosa cell layer	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001814	brachial nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001813	spinal nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0001018	axon tract	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0001019	nerve fasciculus	http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0001021	nerve	http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0001815	lumbosacral nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001813	spinal nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0002008	cardiac nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001816	autonomic nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0002211	nerve root	http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0003725	cervical nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001813	spinal nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0004904	neuron projection bundle connecting eye with brain	http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0006133	funiculus of neuraxis	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0007418	neural decussation	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0034713	cranial neuron projection bundle	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002308	nucleus of brain	http://purl.obolibrary.org/obo/UBERON_0000125	neural nucleus		
http://purl.obolibrary.org/obo/UBERON_0007414	nucleus of midbrain tegmentum	http://purl.obolibrary.org/obo/UBERON_0000125	neural nucleus		
http://purl.obolibrary.org/obo/UBERON_0011777	nucleus of spinal cord	http://purl.obolibrary.org/obo/UBERON_0000125	neural nucleus		
http://purl.obolibrary.org/obo/UBERON_0000127	facial nucleus	http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0002149	superior salivatory nucleus	http://purl.obolibrary.org/obo/UBERON_0007635	nucleus of medulla oblongata		
http://purl.obolibrary.org/obo/UBERON_0002682	abducens nucleus	http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0002722	trochlear nucleus	http://purl.obolibrary.org/obo/UBERON_0009661	midbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0002871	hypoglossal nucleus	http://purl.obolibrary.org/obo/UBERON_0007635	nucleus of medulla oblongata		
http://purl.obolibrary.org/obo/UBERON_0002925	trigeminal nucleus	http://purl.obolibrary.org/obo/UBERON_0000126	cranial nerve nucleus		
http://purl.obolibrary.org/obo/UBERON_0011775	vagus nerve nucleus	http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0020358	accessory XI nerve nucleus	http://purl.obolibrary.org/obo/UBERON_0007635	nucleus of medulla oblongata		
http://purl.obolibrary.org/obo/UBERON_0002515	periosteum	http://purl.obolibrary.org/obo/UBERON_0000158	membranous layer		
http://purl.obolibrary.org/obo/UBERON_0003893	capsule	http://purl.obolibrary.org/obo/UBERON_0000158	membranous layer		
http://purl.obolibrary.org/obo/UBERON_0004666	interventricular septum membranous part	http://purl.obolibrary.org/obo/UBERON_0005983	heart layer		
http://purl.obolibrary.org/obo/UBERON_0005631	extraembryonic membrane	http://purl.obolibrary.org/obo/UBERON_0000158	membranous layer		
http://purl.obolibrary.org/obo/UBERON_0006217	cloacal membrane	http://purl.obolibrary.org/obo/UBERON_0000158	membranous layer		
http://purl.obolibrary.org/obo/UBERON_0006614	aponeurosis	http://purl.obolibrary.org/obo/UBERON_0000158	membranous layer		
http://purl.obolibrary.org/obo/UBERON_0006650	tunica vaginalis testis	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001245	anus	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0012303	ureteral orifice	http://purl.obolibrary.org/obo/UBERON_0010418	urethral opening		
http://purl.obolibrary.org/obo/UBERON_0000003	naris	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0000166	oral opening	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0004668	fourth ventricle aperture	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0007691	gustatory pore	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0010284	lacrimal punctum	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0010418	urethral opening	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0012317	vagina orifice	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0012464	cloacal vent	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0013758	cervical os	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0016458	esophageal hiatus	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0036253	orifice of skull	http://purl.obolibrary.org/obo/UBERON_0000161	orifice		
http://purl.obolibrary.org/obo/UBERON_0000163	embryonic cloaca	http://purl.obolibrary.org/obo/UBERON_0000162	cloaca		
http://purl.obolibrary.org/obo/UBERON_0001156	ascending colon	http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon		
http://purl.obolibrary.org/obo/UBERON_0001157	transverse colon	http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon		
http://purl.obolibrary.org/obo/UBERON_0001158	descending colon	http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon		
http://purl.obolibrary.org/obo/UBERON_0001159	sigmoid colon	http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon		
http://purl.obolibrary.org/obo/UBERON_0002048	lung	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001088	urine	http://purl.obolibrary.org/obo/UBERON_0000174	excreta		
http://purl.obolibrary.org/obo/UBERON_0001988	feces	http://purl.obolibrary.org/obo/UBERON_0000174	excreta		
http://purl.obolibrary.org/obo/UBERON_0034945	excreted gas	http://purl.obolibrary.org/obo/UBERON_0034873	bodily gas		
http://purl.obolibrary.org/obo/UBERON_0000178	blood	http://purl.obolibrary.org/obo/UBERON_0000179	haemolymphatic fluid		
http://purl.obolibrary.org/obo/UBERON_0002391	lymph	http://purl.obolibrary.org/obo/UBERON_0000179	haemolymphatic fluid		
http://purl.obolibrary.org/obo/UBERON_0001969	blood plasma	http://purl.obolibrary.org/obo/UBERON_0000179	haemolymphatic fluid		
http://purl.obolibrary.org/obo/UBERON_0001977	blood serum	http://purl.obolibrary.org/obo/UBERON_0000179	haemolymphatic fluid		
http://purl.obolibrary.org/obo/UBERON_0014640	occipital gyrus	http://purl.obolibrary.org/obo/UBERON_0000200	gyrus		
http://purl.obolibrary.org/obo/UBERON_0015593	frontal gyrus	http://purl.obolibrary.org/obo/UBERON_0000200	gyrus		
http://purl.obolibrary.org/obo/UBERON_0012332	broad ligament of uterus	http://purl.obolibrary.org/obo/UBERON_0000211	ligament		
http://purl.obolibrary.org/obo/UBERON_0006204	inguinal ligament	http://purl.obolibrary.org/obo/UBERON_0005172	abdomen element		
http://purl.obolibrary.org/obo/UBERON_0008845	nonskeletal ligament	http://purl.obolibrary.org/obo/UBERON_0000211	ligament		
http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament	http://purl.obolibrary.org/obo/UBERON_0000211	ligament		
http://purl.obolibrary.org/obo/UBERON_0015214	arcuate ligament	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0018154	ligament of middle ear	http://purl.obolibrary.org/obo/UBERON_0000211	ligament		
http://purl.obolibrary.org/obo/UBERON_0036262	uterine ligament	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0017648	ventral body wall	http://purl.obolibrary.org/obo/UBERON_0000309	body wall		
http://purl.obolibrary.org/obo/UBERON_0017649	dorsal body wall	http://purl.obolibrary.org/obo/UBERON_0000309	body wall		
http://purl.obolibrary.org/obo/UBERON_0039175	subarachnoid space of brain	http://purl.obolibrary.org/obo/UBERON_0000315	subarachnoid space		
http://purl.obolibrary.org/obo/UBERON_0039176	subarachnoid space of spinal cord	http://purl.obolibrary.org/obo/UBERON_0000315	subarachnoid space		
http://purl.obolibrary.org/obo/UBERON_0000314	cecum mucosa	http://purl.obolibrary.org/obo/UBERON_0000317	colonic mucosa		
http://purl.obolibrary.org/obo/UBERON_0004990	mucosa of ascending colon	http://purl.obolibrary.org/obo/UBERON_0000317	colonic mucosa		
http://purl.obolibrary.org/obo/UBERON_0004991	mucosa of transverse colon	http://purl.obolibrary.org/obo/UBERON_0000317	colonic mucosa		
http://purl.obolibrary.org/obo/UBERON_0004992	mucosa of descending colon	http://purl.obolibrary.org/obo/UBERON_0000317	colonic mucosa		
http://purl.obolibrary.org/obo/UBERON_0004993	mucosa of sigmoid colon	http://purl.obolibrary.org/obo/UBERON_0000317	colonic mucosa		
http://purl.obolibrary.org/obo/UBERON_0008859	cardiac gastric gland	http://purl.obolibrary.org/obo/UBERON_0000414	mucous gland		
http://purl.obolibrary.org/obo/UBERON_0008861	pyloric gastric gland	http://purl.obolibrary.org/obo/UBERON_0000414	mucous gland		
http://purl.obolibrary.org/obo/UBERON_0010038	fundic gastric gland	http://purl.obolibrary.org/obo/UBERON_0000414	mucous gland		
http://purl.obolibrary.org/obo/UBERON_0001096	wall of esophagus	http://purl.obolibrary.org/obo/UBERON_0000328	gut wall		
http://purl.obolibrary.org/obo/UBERON_0001167	wall of stomach	http://purl.obolibrary.org/obo/UBERON_0000328	gut wall		
http://purl.obolibrary.org/obo/UBERON_0001262	wall of intestine	http://purl.obolibrary.org/obo/UBERON_0000328	gut wall		
http://purl.obolibrary.org/obo/UBERON_0001983	crypt of Lieberkuhn	http://purl.obolibrary.org/obo/UBERON_0000333	intestinal gland		
http://purl.obolibrary.org/obo/UBERON_0001259	mucosa of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0002469	esophagus mucosa	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0004786	gastrointestinal system mucosa	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0004980	mucosa of ureter	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0004999	mucosa of biliary tree	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005006	mucosa of renal pelvis	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005021	mucosa of sphenoidal sinus	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005026	mucosa of middle ear	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005027	mucosa of frontal sinus	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005028	mucosa of maxillary sinus	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005029	mucosa of lacrimal canaliculus	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005030	mucosa of paranasal sinus	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005033	mucosa of gallbladder	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005043	mucosa of nasolacrimal duct	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0005045	mucosa of ethmoidal sinus	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0012299	mucosa of urethra	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0012480	cloacal mucosa	http://purl.obolibrary.org/obo/UBERON_0000344	mucosa		
http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001280	liver parenchyma	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001747	parenchyma of thyroid gland	http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma		
http://purl.obolibrary.org/obo/UBERON_0001749	parenchyma of parathyroid gland	http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma		
http://purl.obolibrary.org/obo/UBERON_0001978	parenchyma of pancreas	http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma		
http://purl.obolibrary.org/obo/UBERON_0005158	parenchyma of central nervous system	http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma		
http://purl.obolibrary.org/obo/UBERON_0008946	lung parenchyma	http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma		
http://purl.obolibrary.org/obo/UBERON_0008987	renal parenchyma	http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma		
http://purl.obolibrary.org/obo/UBERON_1000024	parenchyma of spleen	http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma		
http://purl.obolibrary.org/obo/UBERON_0036245	parenchyma of mammary gland	http://purl.obolibrary.org/obo/UBERON_0000353	parenchyma		
http://purl.obolibrary.org/obo/UBERON_0004987	mucosa of laryngopharynx	http://purl.obolibrary.org/obo/UBERON_0000355	pharyngeal mucosa		
http://purl.obolibrary.org/obo/UBERON_0005022	mucosa of nasopharynx	http://purl.obolibrary.org/obo/UBERON_0000355	pharyngeal mucosa		
http://purl.obolibrary.org/obo/UBERON_0005023	mucosa of oropharynx	http://purl.obolibrary.org/obo/UBERON_0004786	gastrointestinal system mucosa		
http://purl.obolibrary.org/obo/UBERON_0001254	urothelium of ureter	http://purl.obolibrary.org/obo/UBERON_0000365	urothelium		
http://purl.obolibrary.org/obo/UBERON_0004645	urinary bladder urothelium	http://purl.obolibrary.org/obo/UBERON_0003350	epithelium of mucosa		
http://purl.obolibrary.org/obo/UBERON_0004787	urethra urothelium	http://purl.obolibrary.org/obo/UBERON_0002325	epithelium of urethra		
http://purl.obolibrary.org/obo/UBERON_0004788	kidney pelvis urothelium	http://purl.obolibrary.org/obo/UBERON_0004819	kidney epithelium		
http://purl.obolibrary.org/obo/UBERON_0008230	tibialis	http://purl.obolibrary.org/obo/UBERON_0004256	hindlimb zeugopod muscle		
http://purl.obolibrary.org/obo/UBERON_0001575	extrinsic muscle of tongue	http://purl.obolibrary.org/obo/UBERON_0000378	tongue muscle		
http://purl.obolibrary.org/obo/UBERON_0001576	intrinsic muscle of tongue	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005636	caecum epithelium	http://purl.obolibrary.org/obo/UBERON_0000397	colonic epithelium		
http://purl.obolibrary.org/obo/UBERON_0013695	colon endothelium	http://purl.obolibrary.org/obo/UBERON_0001986	endothelium		
http://purl.obolibrary.org/obo/UBERON_0006430	xiphoid cartilage	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0000017	exocrine pancreas	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0001831	parotid gland	http://purl.obolibrary.org/obo/UBERON_0012102	buccal salivary gland		
http://purl.obolibrary.org/obo/UBERON_0005036	mucosa of main bronchus	http://purl.obolibrary.org/obo/UBERON_0000410	bronchial mucosa		
http://purl.obolibrary.org/obo/UBERON_0005037	mucosa of lobar bronchus	http://purl.obolibrary.org/obo/UBERON_0000410	bronchial mucosa		
http://purl.obolibrary.org/obo/UBERON_0005038	mucosa of segmental bronchus	http://purl.obolibrary.org/obo/UBERON_0000410	bronchial mucosa		
http://purl.obolibrary.org/obo/UBERON_0001212	duodenal gland	http://purl.obolibrary.org/obo/UBERON_0011148	submucosal gland		
http://purl.obolibrary.org/obo/UBERON_0001338	urethral gland	http://purl.obolibrary.org/obo/UBERON_0000414	mucous gland		
http://purl.obolibrary.org/obo/UBERON_0002366	bulbo-urethral gland	http://purl.obolibrary.org/obo/UBERON_0010186	male urethral gland		
http://purl.obolibrary.org/obo/UBERON_0002451	endometrial gland	http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0004789	larynx mucous gland	http://purl.obolibrary.org/obo/UBERON_0036225	respiratory system gland		
http://purl.obolibrary.org/obo/UBERON_0004790	skin mucous gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0011148	submucosal gland	http://purl.obolibrary.org/obo/UBERON_0000414	mucous gland		
http://purl.obolibrary.org/obo/UBERON_0017654	buccal gland	http://purl.obolibrary.org/obo/UBERON_0000414	mucous gland		
http://purl.obolibrary.org/obo/UBERON_0019190	mucous gland of lung	http://purl.obolibrary.org/obo/UBERON_0036225	respiratory system gland		
http://purl.obolibrary.org/obo/UBERON_0036328	wall of coronary artery	http://purl.obolibrary.org/obo/UBERON_0037144	wall of heart		
http://purl.obolibrary.org/obo/UBERON_0036351	wall of brachiocephalic artery	http://purl.obolibrary.org/obo/UBERON_0000415	artery wall		
http://purl.obolibrary.org/obo/UBERON_0036352	wall of subclavian artery	http://purl.obolibrary.org/obo/UBERON_0000415	artery wall		
http://purl.obolibrary.org/obo/UBERON_0036422	wall of pulmonary artery	http://purl.obolibrary.org/obo/UBERON_0000415	artery wall		
http://purl.obolibrary.org/obo/UBERON_0037094	wall of common carotid artery	http://purl.obolibrary.org/obo/UBERON_0000415	artery wall		
http://purl.obolibrary.org/obo/UBERON_0035076	parotid gland myoepithelium	http://purl.obolibrary.org/obo/UBERON_0003360	epithelium of parotid gland		
http://purl.obolibrary.org/obo/UBERON_0006954	mammary gland myoepithelium	http://purl.obolibrary.org/obo/UBERON_0003244	epithelium of mammary gland		
http://purl.obolibrary.org/obo/UBERON_0000439	arachnoid trabecula	http://purl.obolibrary.org/obo/UBERON_0000440	trabecula		
http://purl.obolibrary.org/obo/UBERON_0001265	trabecula of spleen	http://purl.obolibrary.org/obo/UBERON_0000440	trabecula		
http://purl.obolibrary.org/obo/UBERON_0002195	trabecula of lymph node	http://purl.obolibrary.org/obo/UBERON_0000440	trabecula		
http://purl.obolibrary.org/obo/UBERON_0004791	thymus trabecula	http://purl.obolibrary.org/obo/UBERON_0000440	trabecula		
http://purl.obolibrary.org/obo/UBERON_0005945	neurocranial trabecula	http://purl.obolibrary.org/obo/UBERON_0003932	cartilage element of chondrocranium		
http://purl.obolibrary.org/obo/UBERON_0005988	atrium myocardial trabecula	http://purl.obolibrary.org/obo/UBERON_0000440	trabecula		
http://purl.obolibrary.org/obo/UBERON_0010183	liver trabecula	http://purl.obolibrary.org/obo/UBERON_0000440	trabecula		
http://purl.obolibrary.org/obo/UBERON_0000326	pancreatic juice	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0000912	mucus	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0001089	sweat	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0001827	secretion of lacrimal gland	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0001836	saliva	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0001866	sebum	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0001970	bile	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0001971	gastric juice	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0002466	intestine secretion	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0004794	esophagus secretion	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0004795	pancreas secretion	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0006530	seminal fluid	http://purl.obolibrary.org/obo/UBERON_0006536	male reproductive gland secretion		
http://purl.obolibrary.org/obo/UBERON_0006539	mammary gland fluid/secretion	http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0007794	secretion of serous gland	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0022287	tear film	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0000038	follicular fluid	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0000173	amniotic fluid	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0000174	excreta	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0000456	secretion of exocrine gland	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0000913	interstitial fluid	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0001968	semen	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0006312	ocular refractive media	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0006535	skin secretion	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0006538	respiratory system fluid/secretion	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0010210	blood clot	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0022293	reproductive gland secretion	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0034873	bodily gas	http://purl.obolibrary.org/obo/UBERON_0000463	organism substance		
http://purl.obolibrary.org/obo/UBERON_0001771	pupil	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0003693	retroperitoneal space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0000039	follicular antrum	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0000093	sulcus	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0000315	subarachnoid space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0001286	Bowman's space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0001731	cavity of pharynx	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0002224	thoracic cavity	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0003684	abdominal cavity	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0003842	neural tube lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0003886	future coelemic cavity lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0004099	joint space of elbow	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0005082	tube lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0005463	subcapsular sinus of lymph node	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0005688	lens vesicle cavity	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0006833	lumen of trachea	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0006909	lumen of digestive tract	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0007147	lumen of midgut	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0007148	lumen of hindgut	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0007158	lumen of anal canal	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0007159	lumen of colon	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0009572	lumen of central canal of spinal cord	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0009670	rectal lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0009715	stomodeal lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0009844	urogenital sinus lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0009857	cavum septum pellucidum	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0009958	bladder lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0009959	lumen of oropharynx	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010060	pharyngeal opening of pharyngotympanic tube	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010061	lumen of nasopharynx	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010064	open anatomical space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010160	lumen of lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010161	lumen of blood vessel	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010276	space in vertebral column	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010384	lumen of laryngopharynx	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0010390	lumen of urethra	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0011566	lumen of esophagus	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0011772	lower jaw opening	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0011773	upper jaw opening	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0012082	bronchial lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0012246	thyroid follicular lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0012351	urachal lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0012463	cloacal lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0012465	lumen of terminal part of digestive tract	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0012466	extraembryonic cavity	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0012467	enclosed anatomical space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0013514	space surrounding organism	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0013525	stomach lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0013686	anatomical conduit space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0014466	subarachnoid fissure	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0014704	pleuroperitoneal canal lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0014930	perivascular space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0015155	conjunctival space	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0016502	stomach fundus lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0016512	lumen of duodenum	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0016517	lumen of jejunum	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0018543	lumen of intestine	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0034905	gland lumen	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_8410032	trabecular sinus of lymph node	http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space		
http://purl.obolibrary.org/obo/UBERON_0000061	anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0034923	disconnected anatomical group	http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection	http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part	http://purl.obolibrary.org/obo/UBERON_0000465	material anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0000015	non-material anatomical boundary	http://purl.obolibrary.org/obo/UBERON_0000466	immaterial anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0000464	anatomical space	http://purl.obolibrary.org/obo/UBERON_0000466	immaterial anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0006846	surface groove	http://purl.obolibrary.org/obo/UBERON_0000466	immaterial anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0006983	anatomical point	http://purl.obolibrary.org/obo/UBERON_0000466	immaterial anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0010199	bona-fide anatomical boundary	http://purl.obolibrary.org/obo/UBERON_0000466	immaterial anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0000922	embryo	http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism		
http://purl.obolibrary.org/obo/UBERON_0002548	larva	http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism		
http://purl.obolibrary.org/obo/UBERON_0003100	female organism	http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism		
http://purl.obolibrary.org/obo/UBERON_0003101	male organism	http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism		
http://purl.obolibrary.org/obo/UBERON_0007021	sexually immature organism	http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism		
http://purl.obolibrary.org/obo/UBERON_0007023	adult organism	http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism		
http://purl.obolibrary.org/obo/UBERON_0007197	hermaphroditic organism	http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism		
http://purl.obolibrary.org/obo/UBERON_0009953	post-embryonic organism	http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism		
http://purl.obolibrary.org/obo/UBERON_0000016	endocrine pancreas	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000958	medulla of organ	http://purl.obolibrary.org/obo/UBERON_0000471	compound organ component		
http://purl.obolibrary.org/obo/UBERON_0000974	neck	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0002030	nipple	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0035775	submandibular region	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0000026	appendage	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0000153	anterior region of body	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0000154	posterior region of body	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0000309	body wall	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001137	dorsum	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001353	anal region	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001464	hip	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001467	shoulder	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001709	upper jaw region	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0001710	lower jaw region	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0002355	pelvic region of trunk	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0005881	autopodial extension	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0006635	anterior abdominal wall	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0007811	craniocervical region	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0007823	appendage girdle region	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0008231	dorsal thoracic segment of trunk	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0008337	inguinal part of abdomen	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0009569	subdivision of trunk	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0010707	appendage girdle complex	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0010758	subdivision of organism along appendicular axis	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0011595	jaw region	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0013235	ventrum	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0013701	main body axis	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0013702	body proper	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0016416	anterior chest	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_5002544	digit plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision		
http://purl.obolibrary.org/obo/UBERON_0003957	Bruch's membrane	http://purl.obolibrary.org/obo/UBERON_0000476	acellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005764	acellular membrane	http://purl.obolibrary.org/obo/UBERON_0000476	acellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005788	lamina rara interna	http://purl.obolibrary.org/obo/UBERON_0000476	acellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0007490	keratin-based acellular structure	http://purl.obolibrary.org/obo/UBERON_0000476	acellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0011860	collection of collagen fibrils	http://purl.obolibrary.org/obo/UBERON_0000476	acellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_2001089	myoseptum	http://purl.obolibrary.org/obo/UBERON_0000476	acellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0002049	vasculature	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0004105	subungual region	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0006208	auditory hillocks	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0006611	exoskeleton	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0009142	entire embryonic mesenchyme	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0015238	pineal complex	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0016611	auditory hillocks, pharyngeal arch 1 derived	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0016612	auditory hillocks, pharyngeal arch 2 derived	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_2002067	upper hypural set	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_2002068	lower hypural set	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_2002098	hemal spine series	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0036295	renal pelvis/ureter	http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster		
http://purl.obolibrary.org/obo/UBERON_0002331	umbilical cord	http://purl.obolibrary.org/obo/UBERON_0000478	extraembryonic structure		
http://purl.obolibrary.org/obo/UBERON_0002450	decidua	http://purl.obolibrary.org/obo/UBERON_0000478	extraembryonic structure		
http://purl.obolibrary.org/obo/UBERON_0003254	amniotic ectoderm	http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003257	yolk sac endoderm	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0003262	amniotic mesoderm	http://purl.obolibrary.org/obo/UBERON_0010333	extraembryonic membrane mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003265	chorionic mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010333	extraembryonic membrane mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003374	chorionic ectoderm	http://purl.obolibrary.org/obo/UBERON_0000478	extraembryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005971	amniotic fold	http://purl.obolibrary.org/obo/UBERON_0000478	extraembryonic structure		
http://purl.obolibrary.org/obo/UBERON_0007106	chorionic villus	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0007806	connecting stalk	http://purl.obolibrary.org/obo/UBERON_0000478	extraembryonic structure		
http://purl.obolibrary.org/obo/UBERON_0011919	yolk sac blood island	http://purl.obolibrary.org/obo/UBERON_0003061	blood island		
http://purl.obolibrary.org/obo/UBERON_0002371	bone marrow	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0002385	muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002384	connective tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0011818	superficial fascia	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0000389	lens cortex	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000483	epithelium	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0000957	lamina	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0001758	periodontium	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0002283	nail matrix	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0003091	thyroid primordium	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0003714	neural tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0004128	optic vesicle	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0005426	lens vesicle	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0005427	corneal primordium	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005497	non-neural ectoderm	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0007118	umbilicus	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0007475	matrix-based tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0007688	anlage	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0008324	erectile tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0009010	periurethral tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0009133	pleuroperitoneal membrane	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0009881	anterior lateral plate mesoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0010286	midbrain neural tube	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0010316	germ layer / neural crest	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0010536	nephron progenitor	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0015757	heterogeneous tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0018303	adrenal tissue	http://purl.obolibrary.org/obo/UBERON_0000479	tissue		
http://purl.obolibrary.org/obo/UBERON_0001769	iris	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001775	ciliary body	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002348	epicardium	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0014385	aryepiglottic fold	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002068	urachus	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0002298	brainstem	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002407	pericardium	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0000042	serous membrane	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000073	regional part of nervous system	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0000471	compound organ component	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0002539	pharyngeal arch	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0003072	optic cup	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005498	primitive heart tube	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0007375	roof of mouth	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0009191	sphenoid bone pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015060	sphenoid endochondral element		
http://purl.obolibrary.org/obo/UBERON_0009672	oronasal membrane	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0009841	upper rhombic lip	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0010190	pair of dorsal aortae	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0010427	ciliary processes	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0011754	genital swelling	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0011892	anterior uvea	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0011997	coelom	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0012292	embryonic cloacal fold	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0012361	internal anal region	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0012469	external anal region	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0014796	common tendinous ring	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0016854	dorsal part of optic cup	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0016855	ventral part of optic cup	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0016887	entire extraembryonic component	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0019207	chorioretinal region	http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure		
http://purl.obolibrary.org/obo/UBERON_0000486	multilaminar epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0000488	atypical epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0000490	unilaminar epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003075	neural plate	http://purl.obolibrary.org/obo/UBERON_0016879	future central nervous system		
http://purl.obolibrary.org/obo/UBERON_0003229	epithelium of elbow	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003231	epithelium of hip	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003232	epithelium of knee	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003233	epithelium of shoulder	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003244	epithelium of mammary gland	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003247	epithelium of forearm	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003350	epithelium of mucosa	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003843	dental epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003846	thymus epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003911	choroid plexus epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0004803	penis epithelium	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004804	oviduct epithelium	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004807	respiratory system epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0004808	gastrointestinal system epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0004819	kidney epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0004909	epithelium of gonad	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0005157	epithelial fold	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0005225	upper leg epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0005228	upper arm epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0005229	lower leg epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0005562	thymus primordium	http://purl.obolibrary.org/obo/UBERON_0003351	pharyngeal epithelium		
http://purl.obolibrary.org/obo/UBERON_0005656	lens vesicle epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0005891	coelomic epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0006799	glandular epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0006914	squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0006964	pars distalis of adenohypophysis	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0007376	outer epithelium	http://purl.obolibrary.org/obo/UBERON_0003102	surface structure		
http://purl.obolibrary.org/obo/UBERON_0007503	epithelial vesicle	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0007601	ciliated epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0008367	breast epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0010077	cuboidal epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0010303	extraembryonic epithelium	http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0012274	columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0013697	exocrine pancreas epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0015179	somite boundary epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0019204	skin epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0019304	sensory organ epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0034705	developing neuroepithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0034932	epithelium of biliary system	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_2001389	regeneration epithelium of fin/limb	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_2001431	primitive olfactory epithelium	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0035036	naris epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	epithelium		
http://purl.obolibrary.org/obo/UBERON_0001304	germinal epithelium of ovary	http://purl.obolibrary.org/obo/UBERON_0004911	epithelium of female gonad		
http://purl.obolibrary.org/obo/UBERON_0001803	epithelium of lens	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0006930	glandular cuboidal epithelium	http://purl.obolibrary.org/obo/UBERON_0006799	glandular epithelium		
http://purl.obolibrary.org/obo/UBERON_0012363	thyroid follicle epithelium	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0014388	kidney collecting duct epithelium	http://purl.obolibrary.org/obo/UBERON_0004211	nephron epithelium		
http://purl.obolibrary.org/obo/UBERON_0000428	prostate epithelium	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0001276	epithelium of stomach	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0001277	intestinal epithelium	http://purl.obolibrary.org/obo/UBERON_0004808	gastrointestinal system epithelium		
http://purl.obolibrary.org/obo/UBERON_0002029	epithelium of gall bladder	http://purl.obolibrary.org/obo/UBERON_0034932	epithelium of biliary system		
http://purl.obolibrary.org/obo/UBERON_0003894	liver primordium	http://purl.obolibrary.org/obo/UBERON_0009497	epithelium of foregut-midgut junction		
http://purl.obolibrary.org/obo/UBERON_0004341	primitive streak	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0004544	epididymis epithelium	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0006929	glandular columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0006799	glandular epithelium		
http://purl.obolibrary.org/obo/UBERON_0007592	ciliated columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0007601	ciliated epithelium		
http://purl.obolibrary.org/obo/UBERON_0010498	pseudostratified columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0000485	simple columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0000365	urothelium	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0001344	epithelium of vagina	http://purl.obolibrary.org/obo/UBERON_0004804	oviduct epithelium		
http://purl.obolibrary.org/obo/UBERON_0004290	dermomyotome	http://purl.obolibrary.org/obo/UBERON_0016888	transitional anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005154	epithelial cord	http://purl.obolibrary.org/obo/UBERON_0000486	multilaminar epithelium		
http://purl.obolibrary.org/obo/UBERON_0006915	stratified squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006914	squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0007602	stratified columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0012274	columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0011197	parathyroid epithelium	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0001136	mesothelium	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0001986	endothelium	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0003055	periderm	http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure		
http://purl.obolibrary.org/obo/UBERON_0006921	stomach squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0001276	epithelium of stomach		
http://purl.obolibrary.org/obo/UBERON_0000420	myoepithelium	http://purl.obolibrary.org/obo/UBERON_0000488	atypical epithelium		
http://purl.obolibrary.org/obo/UBERON_0001778	ciliary epithelium	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0002506	iris epithelium	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0006934	sensory epithelium	http://purl.obolibrary.org/obo/UBERON_0000488	atypical epithelium		
http://purl.obolibrary.org/obo/UBERON_0018707	bladder organ	http://purl.obolibrary.org/obo/UBERON_0009856	sac		
http://purl.obolibrary.org/obo/UBERON_0002113	kidney	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002240	spinal cord	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0004117	pharyngeal pouch	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0000076	external ectoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0000484	simple cuboidal epithelium	http://purl.obolibrary.org/obo/UBERON_0010077	cuboidal epithelium		
http://purl.obolibrary.org/obo/UBERON_0000485	simple columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0012274	columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0000487	simple squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006914	squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0003230	epithelium of carpal region	http://purl.obolibrary.org/obo/UBERON_0000490	unilaminar epithelium		
http://purl.obolibrary.org/obo/UBERON_0003248	epithelium of footplate	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003258	endoderm of foregut	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0003259	endoderm of midgut	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0003260	endoderm of hindgut	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0003371	pelvic appendage bud ectoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003372	pectoral appendage bud ectoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0004008	cerebellar plate	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0004345	trophectoderm	http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0005226	pedal digit epithelium	http://purl.obolibrary.org/obo/UBERON_0000490	unilaminar epithelium		
http://purl.obolibrary.org/obo/UBERON_0005227	manual digit epithelium	http://purl.obolibrary.org/obo/UBERON_0000490	unilaminar epithelium		
http://purl.obolibrary.org/obo/UBERON_0005233	medial-nasal process ectoderm	http://purl.obolibrary.org/obo/UBERON_0014702	frontonasal process epithelium		
http://purl.obolibrary.org/obo/UBERON_0006266	nasolacrimal groove	http://purl.obolibrary.org/obo/UBERON_0019306	nose epithelium		
http://purl.obolibrary.org/obo/UBERON_0006267	notochordal plate	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0007383	enveloping layer of ectoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0007690	early pharyngeal endoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0009206	lateral nasal process surface ectoderm	http://purl.obolibrary.org/obo/UBERON_0014702	frontonasal process epithelium		
http://purl.obolibrary.org/obo/UBERON_0009497	epithelium of foregut-midgut junction	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0009521	anal membrane endodermal component	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0009522	lateral lingual swelling epithelium	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0009846	embryonic cloacal epithelium	http://purl.obolibrary.org/obo/UBERON_0012481	cloacal epithelium		
http://purl.obolibrary.org/obo/UBERON_0010023	dorsal part of pharyngeal pouch 2	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0010025	dorsal part of pharyngeal pouch 3	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0010026	ventral part of pharyngeal pouch 3	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0010027	dorsal part of pharyngeal pouch 4	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0010028	ventral part of pharyngeal pouch 4	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0010029	dorsal part of pharyngeal pouch 5	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0010332	epithelium of handplate	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0011272	embryonic skin basal layer	http://purl.obolibrary.org/obo/UBERON_0000490	unilaminar epithelium		
http://purl.obolibrary.org/obo/UBERON_0011592	future upper lip	http://purl.obolibrary.org/obo/UBERON_0003235	epithelium of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0011596	future lower lip	http://purl.obolibrary.org/obo/UBERON_0003236	epithelium of lower jaw		
http://purl.obolibrary.org/obo/UBERON_0011642	oral epithelium from ectoderm	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0012313	1st arch maxillary ectoderm	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0013156	1st arch mandibular endoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0014702	frontonasal process epithelium	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0014703	anal membrane ectodermal component	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0014705	median lingual swelling epithelium	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0016545	pharyngeal ectoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003071	eye primordium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0000316	cervical mucus	http://purl.obolibrary.org/obo/UBERON_0000912	mucus		
http://purl.obolibrary.org/obo/UBERON_0010152	skin mucus	http://purl.obolibrary.org/obo/UBERON_0000912	mucus		
http://purl.obolibrary.org/obo/UBERON_0016552	phlegm	http://purl.obolibrary.org/obo/UBERON_0000912	mucus		
http://purl.obolibrary.org/obo/UBERON_0016553	respiratory system mucus	http://purl.obolibrary.org/obo/UBERON_0000912	mucus		
http://purl.obolibrary.org/obo/UBERON_0000085	morula	http://purl.obolibrary.org/obo/UBERON_0000922	embryo		
http://purl.obolibrary.org/obo/UBERON_0000307	blastula	http://purl.obolibrary.org/obo/UBERON_0000922	embryo		
http://purl.obolibrary.org/obo/UBERON_0000323	late embryo	http://purl.obolibrary.org/obo/UBERON_0000922	embryo		
http://purl.obolibrary.org/obo/UBERON_0004455	neurula embryo	http://purl.obolibrary.org/obo/UBERON_0000922	embryo		
http://purl.obolibrary.org/obo/UBERON_0004734	gastrula	http://purl.obolibrary.org/obo/UBERON_0000922	embryo		
http://purl.obolibrary.org/obo/UBERON_0007010	cleaving embryo	http://purl.obolibrary.org/obo/UBERON_0000922	embryo		
http://purl.obolibrary.org/obo/UBERON_0000924	ectoderm	http://purl.obolibrary.org/obo/UBERON_0000923	germ layer		
http://purl.obolibrary.org/obo/UBERON_0000925	endoderm	http://purl.obolibrary.org/obo/UBERON_0000923	germ layer		
http://purl.obolibrary.org/obo/UBERON_0000926	mesoderm	http://purl.obolibrary.org/obo/UBERON_0000923	germ layer		
http://purl.obolibrary.org/obo/UBERON_0002346	neurectoderm	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003373	ectoderm of footplate	http://purl.obolibrary.org/obo/UBERON_0000924	ectoderm		
http://purl.obolibrary.org/obo/UBERON_0005234	optic eminence ectoderm	http://purl.obolibrary.org/obo/UBERON_0000924	ectoderm		
http://purl.obolibrary.org/obo/UBERON_0005660	2nd arch ectoderm	http://purl.obolibrary.org/obo/UBERON_0000924	ectoderm		
http://purl.obolibrary.org/obo/UBERON_0005661	3rd arch ectoderm	http://purl.obolibrary.org/obo/UBERON_0000924	ectoderm		
http://purl.obolibrary.org/obo/UBERON_0005662	4th arch ectoderm	http://purl.obolibrary.org/obo/UBERON_0000924	ectoderm		
http://purl.obolibrary.org/obo/UBERON_0009479	ectoderm of buccopharyngeal membrane	http://purl.obolibrary.org/obo/UBERON_0000924	ectoderm		
http://purl.obolibrary.org/obo/UBERON_0003261	thyroid primordium endoderm	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005664	2nd arch endoderm	http://purl.obolibrary.org/obo/UBERON_0000925	endoderm		
http://purl.obolibrary.org/obo/UBERON_0005665	3rd arch endoderm	http://purl.obolibrary.org/obo/UBERON_0000925	endoderm		
http://purl.obolibrary.org/obo/UBERON_0005666	4th arch endoderm	http://purl.obolibrary.org/obo/UBERON_0000925	endoderm		
http://purl.obolibrary.org/obo/UBERON_0008817	thymus primordium endoderm	http://purl.obolibrary.org/obo/UBERON_0000925	endoderm		
http://purl.obolibrary.org/obo/UBERON_0009480	endoderm of buccopharyngeal membrane	http://purl.obolibrary.org/obo/UBERON_0000925	endoderm		
http://purl.obolibrary.org/obo/UBERON_0009550	endoderm of foregut-midgut junction	http://purl.obolibrary.org/obo/UBERON_0000925	endoderm		
http://purl.obolibrary.org/obo/UBERON_0005721	pronephric mesoderm	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0010948	cleidooccipital muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0000119	cell layer	http://purl.obolibrary.org/obo/UBERON_0000957	lamina		
http://purl.obolibrary.org/obo/UBERON_0001782	pigmented layer of retina	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0001236	adrenal medulla	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000362	renal medulla	http://purl.obolibrary.org/obo/UBERON_0000958	medulla of organ		
http://purl.obolibrary.org/obo/UBERON_0002007	medulla of lymph node	http://purl.obolibrary.org/obo/UBERON_0000958	medulla of organ		
http://purl.obolibrary.org/obo/UBERON_0002124	medulla of thymus	http://purl.obolibrary.org/obo/UBERON_0000958	medulla of organ		
http://purl.obolibrary.org/obo/UBERON_0004827	thyroid gland medulla	http://purl.obolibrary.org/obo/UBERON_0000958	medulla of organ		
http://purl.obolibrary.org/obo/UBERON_0005184	hair medulla	http://purl.obolibrary.org/obo/UBERON_0000958	medulla of organ		
http://purl.obolibrary.org/obo/UBERON_0013192	ovarian medulla	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_6007242	insect embryonic/larval head sensillum	http://purl.obolibrary.org/obo/UBERON_6007280	insect embryonic/larval head sense organ		
http://purl.obolibrary.org/obo/UBERON_0002001	joint of rib	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0003657	limb joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0003694	atlanto-axial joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0008114	joint of girdle	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0011134	nonsynovial joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0011965	saddle joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0016884	shoulder joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_2001950	inter-premaxillary joint	http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint		
http://purl.obolibrary.org/obo/UBERON_0000065	respiratory tract	http://purl.obolibrary.org/obo/UBERON_0001005	respiratory airway		
http://purl.obolibrary.org/obo/UBERON_0002190	subcutaneous adipose tissue	http://purl.obolibrary.org/obo/UBERON_0001013	adipose tissue		
http://purl.obolibrary.org/obo/UBERON_0003426	dermis adipose tissue	http://purl.obolibrary.org/obo/UBERON_0003585	dermis connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003916	fat pad	http://purl.obolibrary.org/obo/UBERON_0001013	adipose tissue		
http://purl.obolibrary.org/obo/UBERON_0004180	mammary gland fat	http://purl.obolibrary.org/obo/UBERON_0003584	mammary gland connective tissue		
http://purl.obolibrary.org/obo/UBERON_0005406	perirenal fat	http://purl.obolibrary.org/obo/UBERON_0001013	adipose tissue		
http://purl.obolibrary.org/obo/UBERON_0007808	adipose tissue of abdominal region	http://purl.obolibrary.org/obo/UBERON_0003567	abdomen connective tissue		
http://purl.obolibrary.org/obo/UBERON_0019143	intramuscular adipose tissue	http://purl.obolibrary.org/obo/UBERON_0001013	adipose tissue		
http://purl.obolibrary.org/obo/UBERON_0035818	visceral fat	http://purl.obolibrary.org/obo/UBERON_0001013	adipose tissue		
http://purl.obolibrary.org/obo/UBERON_0004462	musculature of body wall	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0004465	musculature of neck	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0004467	musculature of pharynx	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0004468	set of muscles of vertebral column	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0004469	musculature of back	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0004475	musculature of hip	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0004476	musculature of shoulder	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0004478	musculature of larynx	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0004479	musculature of trunk	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0007271	appendage musculature	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0008229	craniocervical region musculature	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0013700	axial musculature	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0014792	musculature of pelvic complex	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0014793	musculature of pectoral complex	http://purl.obolibrary.org/obo/UBERON_0001015	musculature		
http://purl.obolibrary.org/obo/UBERON_0001020	nervous system commissure	http://purl.obolibrary.org/obo/UBERON_0001018	axon tract		
http://purl.obolibrary.org/obo/UBERON_0005413	spinocerebellar tract	http://purl.obolibrary.org/obo/UBERON_0001018	axon tract		
http://purl.obolibrary.org/obo/UBERON_0007699	tract of spinal cord	http://purl.obolibrary.org/obo/UBERON_0001018	axon tract		
http://purl.obolibrary.org/obo/UBERON_0007702	tract of brain	http://purl.obolibrary.org/obo/UBERON_0001018	axon tract		
http://purl.obolibrary.org/obo/UBERON_0005837	fasciculus of spinal cord	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0005838	fasciculus of brain	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0005970	brain commissure	http://purl.obolibrary.org/obo/UBERON_0007702	tract of brain		
http://purl.obolibrary.org/obo/UBERON_0008882	spinal cord commissure	http://purl.obolibrary.org/obo/UBERON_0007699	tract of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0001322	sciatic nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0035642	laryngeal nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0035652	fibular nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0001027	sensory nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0001780	spinal nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003430	neck nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003436	shoulder nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003437	eyelid nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003438	iris nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003439	nerve of trunk region	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003440	limb nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003443	thoracic cavity nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003724	musculocutaneous nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0004215	back nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0004293	parasympathetic nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0034729	sympathetic nerve	http://purl.obolibrary.org/obo/UBERON_0001021	nerve		
http://purl.obolibrary.org/obo/UBERON_0003084	heart primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0003921	pancreas primordium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0005085	ectodermal placode	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005564	gonad primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0005597	lung primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0006215	rhombic lip	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006224	elbow joint primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0006227	ethmoid bone primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0006236	tetrapod frontal bone primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0006242	gallbladder primordium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006244	hip joint primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0006256	knee joint primordium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006293	spleen primordium	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0007689	thyroid diverticulum	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0008801	parotid gland primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0008947	respiratory primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0010375	pancreas dorsal primordium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0010376	pancreas ventral primordium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0010905	clavicle bone primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0012172	stomach primordium	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0014903	primordial vasculature	http://purl.obolibrary.org/obo/UBERON_0001048	primordium		
http://purl.obolibrary.org/obo/UBERON_0017651	salivary gland primordium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_7500102	preorbital bone region	http://purl.obolibrary.org/obo/UBERON_0001062	anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0008874	pulmonary acinus	http://purl.obolibrary.org/obo/UBERON_0001062	anatomical entity		
http://purl.obolibrary.org/obo/UBERON_0003449	tail intervertebral disc	http://purl.obolibrary.org/obo/UBERON_0001066	intervertebral disk		
http://purl.obolibrary.org/obo/UBERON_0007252	intervertebral disk of cervical vertebra	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0007254	intervertebral disk of thoracic vertebra	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0007255	intervertebral disk of lumbar vertebra	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0007257	intervertebral disk of sacral vertebra	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0009014	lower back skin	http://purl.obolibrary.org/obo/UBERON_0003836	abdominal segment skin		
http://purl.obolibrary.org/obo/UBERON_0009015	upper back skin	http://purl.obolibrary.org/obo/UBERON_0001418	skin of thorax		
http://purl.obolibrary.org/obo/UBERON_0035102	transverse process of caudal vertebra	http://purl.obolibrary.org/obo/UBERON_0001077	transverse process of vertebra		
http://purl.obolibrary.org/obo/UBERON_0011370	transverse process of atlas	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0018146	transverse process of lumbar vertebra	http://purl.obolibrary.org/obo/UBERON_0001077	transverse process of vertebra		
http://purl.obolibrary.org/obo/UBERON_0018143	transverse process of cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0001077	transverse process of vertebra		
http://purl.obolibrary.org/obo/UBERON_0009712	endocardium of right ventricle	http://purl.obolibrary.org/obo/UBERON_0001081	endocardium of ventricle		
http://purl.obolibrary.org/obo/UBERON_0009713	endocardium of left ventricle	http://purl.obolibrary.org/obo/UBERON_0001081	endocardium of ventricle		
http://purl.obolibrary.org/obo/UBERON_0006566	left ventricle myocardium	http://purl.obolibrary.org/obo/UBERON_0001083	myocardium of ventricle		
http://purl.obolibrary.org/obo/UBERON_0006567	right ventricle myocardium	http://purl.obolibrary.org/obo/UBERON_0001083	myocardium of ventricle		
http://purl.obolibrary.org/obo/UBERON_0001459	skin of external ear	http://purl.obolibrary.org/obo/UBERON_0001084	skin of head		
http://purl.obolibrary.org/obo/UBERON_1000021	skin of face	http://purl.obolibrary.org/obo/UBERON_0001084	skin of head		
http://purl.obolibrary.org/obo/UBERON_8300000	skin of scalp	http://purl.obolibrary.org/obo/UBERON_0001084	skin of head		
http://purl.obolibrary.org/obo/UBERON_0001068	skin of back	http://purl.obolibrary.org/obo/UBERON_0001085	skin of trunk		
http://purl.obolibrary.org/obo/UBERON_0001418	skin of thorax	http://purl.obolibrary.org/obo/UBERON_0001085	skin of trunk		
http://purl.obolibrary.org/obo/UBERON_0003836	abdominal segment skin	http://purl.obolibrary.org/obo/UBERON_0001085	skin of trunk		
http://purl.obolibrary.org/obo/UBERON_0007772	scrotal sweat	http://purl.obolibrary.org/obo/UBERON_0006536	male reproductive gland secretion		
http://purl.obolibrary.org/obo/UBERON_0014392	sweat of palm	http://purl.obolibrary.org/obo/UBERON_0001089	sweat		
http://purl.obolibrary.org/obo/UBERON_0014393	sweat of axilla	http://purl.obolibrary.org/obo/UBERON_0001089	sweat		
http://purl.obolibrary.org/obo/UBERON_2002162	ural vertebra	http://purl.obolibrary.org/obo/UBERON_0004376	fin bone		
http://purl.obolibrary.org/obo/UBERON_0008255	right clavicle	http://purl.obolibrary.org/obo/UBERON_0001105	clavicle bone		
http://purl.obolibrary.org/obo/UBERON_0008256	left clavicle	http://purl.obolibrary.org/obo/UBERON_0001105	clavicle bone		
http://purl.obolibrary.org/obo/UBERON_0001114	right lobe of liver	http://purl.obolibrary.org/obo/UBERON_0001113	lobe of liver		
http://purl.obolibrary.org/obo/UBERON_0001115	left lobe of liver	http://purl.obolibrary.org/obo/UBERON_0001113	lobe of liver		
http://purl.obolibrary.org/obo/UBERON_0001119	right lobe of thyroid gland	http://purl.obolibrary.org/obo/UBERON_0001118	lobe of thyroid gland		
http://purl.obolibrary.org/obo/UBERON_0001120	left lobe of thyroid gland	http://purl.obolibrary.org/obo/UBERON_0001118	lobe of thyroid gland		
http://purl.obolibrary.org/obo/UBERON_0000219	vertebral foramen of atlas	http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen		
http://purl.obolibrary.org/obo/UBERON_0008429	cervical vertebral foramen	http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen		
http://purl.obolibrary.org/obo/UBERON_0008430	lumbar vertebral foramen	http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen		
http://purl.obolibrary.org/obo/UBERON_0008431	sacral foramen	http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen		
http://purl.obolibrary.org/obo/UBERON_0008432	thoracic vertebral foramen	http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen		
http://purl.obolibrary.org/obo/UBERON_0004492	cardiac muscle tissue of cardiac septum	http://purl.obolibrary.org/obo/UBERON_0001133	cardiac muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004493	cardiac muscle tissue of myocardium	http://purl.obolibrary.org/obo/UBERON_0001133	cardiac muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0010131	conducting tissue of heart	http://purl.obolibrary.org/obo/UBERON_0001133	cardiac muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0003388	mesothelium of pericardial cavity	http://purl.obolibrary.org/obo/UBERON_0001136	mesothelium		
http://purl.obolibrary.org/obo/UBERON_0003389	mesothelium of diaphragm	http://purl.obolibrary.org/obo/UBERON_0004807	respiratory system epithelium		
http://purl.obolibrary.org/obo/UBERON_0003390	mesothelium of pleural cavity	http://purl.obolibrary.org/obo/UBERON_0001136	mesothelium		
http://purl.obolibrary.org/obo/UBERON_0004813	seminiferous tubule epithelium	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0005669	peritoneal cavity mesothelium	http://purl.obolibrary.org/obo/UBERON_0001136	mesothelium		
http://purl.obolibrary.org/obo/UBERON_0005670	greater omentum mesothelium	http://purl.obolibrary.org/obo/UBERON_0001136	mesothelium		
http://purl.obolibrary.org/obo/UBERON_0015128	subepicardial layer of epicardium	http://purl.obolibrary.org/obo/UBERON_0007188	mesothelium of serous pericardium		
http://purl.obolibrary.org/obo/UBERON_8000006	left side of back	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_8000007	right side of back	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001141	right renal vein	http://purl.obolibrary.org/obo/UBERON_0001140	renal vein		
http://purl.obolibrary.org/obo/UBERON_0001142	left renal vein	http://purl.obolibrary.org/obo/UBERON_0001140	renal vein		
http://purl.obolibrary.org/obo/UBERON_0011955	left hepatic vein	http://purl.obolibrary.org/obo/UBERON_0001143	hepatic vein		
http://purl.obolibrary.org/obo/UBERON_0011956	right hepatic vein	http://purl.obolibrary.org/obo/UBERON_0001143	hepatic vein		
http://purl.obolibrary.org/obo/UBERON_0000442	right testicular vein	http://purl.obolibrary.org/obo/UBERON_0001144	testicular vein		
http://purl.obolibrary.org/obo/UBERON_0000443	left testicular vein	http://purl.obolibrary.org/obo/UBERON_0001144	testicular vein		
http://purl.obolibrary.org/obo/UBERON_0039856	right ovarian vein	http://purl.obolibrary.org/obo/UBERON_0001145	ovarian vein		
http://purl.obolibrary.org/obo/UBERON_0039857	left ovarian vein	http://purl.obolibrary.org/obo/UBERON_0001145	ovarian vein		
http://purl.obolibrary.org/obo/UBERON_0036337	wall of appendix	http://purl.obolibrary.org/obo/UBERON_0001169	wall of large intestine		
http://purl.obolibrary.org/obo/UBERON_0036362	wall of anal canal	http://purl.obolibrary.org/obo/UBERON_0001169	wall of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003397	mesentery of duodenum	http://purl.obolibrary.org/obo/UBERON_0003336	serosa of duodenum		
http://purl.obolibrary.org/obo/UBERON_0003398	mesentery of jejunum	http://purl.obolibrary.org/obo/UBERON_0003337	serosa of jejunum		
http://purl.obolibrary.org/obo/UBERON_0022357	mesentery of ileum	http://purl.obolibrary.org/obo/UBERON_0001170	mesentery of small intestine		
http://purl.obolibrary.org/obo/UBERON_0001188	right testicular artery	http://purl.obolibrary.org/obo/UBERON_0003468	ureteric segment of renal artery		
http://purl.obolibrary.org/obo/UBERON_0001189	left testicular artery	http://purl.obolibrary.org/obo/UBERON_0003468	ureteric segment of renal artery		
http://purl.obolibrary.org/obo/UBERON_0015480	proper hepatic artery	http://purl.obolibrary.org/obo/UBERON_0001193	hepatic artery		
http://purl.obolibrary.org/obo/UBERON_0015481	left hepatic artery	http://purl.obolibrary.org/obo/UBERON_0015796	liver blood vessel		
http://purl.obolibrary.org/obo/UBERON_0015482	right hepatic artery	http://purl.obolibrary.org/obo/UBERON_0015796	liver blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004994	mucosa of fundus of stomach	http://purl.obolibrary.org/obo/UBERON_0001199	mucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0004995	mucosa of body of stomach	http://purl.obolibrary.org/obo/UBERON_0001199	mucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0004996	mucosa of cardia of stomach	http://purl.obolibrary.org/obo/UBERON_0001199	mucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0004998	mucosa of pylorus	http://purl.obolibrary.org/obo/UBERON_0001199	mucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0006931	stomach glandular region mucosa	http://purl.obolibrary.org/obo/UBERON_0001199	mucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0012651	mucosa of gastroduodenal junction	http://purl.obolibrary.org/obo/UBERON_0001199	mucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0004933	submucosa of fundus of stomach	http://purl.obolibrary.org/obo/UBERON_0001200	submucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0004934	submucosa of body of stomach	http://purl.obolibrary.org/obo/UBERON_0001200	submucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0004935	submucosa of cardia of stomach	http://purl.obolibrary.org/obo/UBERON_0001200	submucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0004937	submucosa of pylorus	http://purl.obolibrary.org/obo/UBERON_0001200	submucosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0012503	serosa of fundus of stomach	http://purl.obolibrary.org/obo/UBERON_0001201	serosa of stomach		
http://purl.obolibrary.org/obo/UBERON_0000320	duodenal mucosa	http://purl.obolibrary.org/obo/UBERON_0001204	mucosa of small intestine		
http://purl.obolibrary.org/obo/UBERON_0000331	ileal mucosa	http://purl.obolibrary.org/obo/UBERON_0001204	mucosa of small intestine		
http://purl.obolibrary.org/obo/UBERON_0000399	jejunal mucosa	http://purl.obolibrary.org/obo/UBERON_0001204	mucosa of small intestine		
http://purl.obolibrary.org/obo/UBERON_0003332	submucosa of duodenum	http://purl.obolibrary.org/obo/UBERON_0001205	submucosa of small intestine		
http://purl.obolibrary.org/obo/UBERON_0003333	submucosa of jejunum	http://purl.obolibrary.org/obo/UBERON_0001205	submucosa of small intestine		
http://purl.obolibrary.org/obo/UBERON_0004946	submucosa of ileum	http://purl.obolibrary.org/obo/UBERON_0001205	submucosa of small intestine		
http://purl.obolibrary.org/obo/UBERON_0001170	mesentery of small intestine	http://purl.obolibrary.org/obo/UBERON_0007826	peritoneal mesentery		
http://purl.obolibrary.org/obo/UBERON_0003336	serosa of duodenum	http://purl.obolibrary.org/obo/UBERON_0001206	serosa of small intestine		
http://purl.obolibrary.org/obo/UBERON_0003337	serosa of jejunum	http://purl.obolibrary.org/obo/UBERON_0001206	serosa of small intestine		
http://purl.obolibrary.org/obo/UBERON_0000317	colonic mucosa	http://purl.obolibrary.org/obo/UBERON_0001207	mucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003342	mucosa of anal canal	http://purl.obolibrary.org/obo/UBERON_0001207	mucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003346	mucosa of rectum	http://purl.obolibrary.org/obo/UBERON_0001207	mucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0004989	mucosa of appendix	http://purl.obolibrary.org/obo/UBERON_0001207	mucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0013067	colorectal mucosa	http://purl.obolibrary.org/obo/UBERON_0001207	mucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003329	submucosa of anal canal	http://purl.obolibrary.org/obo/UBERON_0001208	submucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003330	submucosa of rectum	http://purl.obolibrary.org/obo/UBERON_0001208	submucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003331	submucosa of colon	http://purl.obolibrary.org/obo/UBERON_0001208	submucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0004928	submucosa of appendix	http://purl.obolibrary.org/obo/UBERON_0001208	submucosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003334	serosa of rectum	http://purl.obolibrary.org/obo/UBERON_0001209	serosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003335	serosa of colon	http://purl.obolibrary.org/obo/UBERON_0001209	serosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0012498	serosa of appendix	http://purl.obolibrary.org/obo/UBERON_0001209	serosa of large intestine		
http://purl.obolibrary.org/obo/UBERON_0008342	intestinal villus of duodenum	http://purl.obolibrary.org/obo/UBERON_0001213	intestinal villus		
http://purl.obolibrary.org/obo/UBERON_0008343	intestinal villus of jejunum	http://purl.obolibrary.org/obo/UBERON_0001213	intestinal villus		
http://purl.obolibrary.org/obo/UBERON_0008344	intestinal villus of ileum	http://purl.obolibrary.org/obo/UBERON_0001213	intestinal villus		
http://purl.obolibrary.org/obo/UBERON_0001219	ileocolic vein	http://purl.obolibrary.org/obo/UBERON_0001217	ileal vein		
http://purl.obolibrary.org/obo/UBERON_0010533	metanephros cortex	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005146	metanephric nephron tubule	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0005310	pronephric nephron tubule	http://purl.obolibrary.org/obo/UBERON_0001231	nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0007685	region of nephron tubule	http://purl.obolibrary.org/obo/UBERON_0001231	nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0015834	duodenum lamina propria	http://purl.obolibrary.org/obo/UBERON_0001238	lamina propria of small intestine		
http://purl.obolibrary.org/obo/UBERON_0001204	mucosa of small intestine	http://purl.obolibrary.org/obo/UBERON_0001242	intestinal mucosa		
http://purl.obolibrary.org/obo/UBERON_0001207	mucosa of large intestine	http://purl.obolibrary.org/obo/UBERON_0001242	intestinal mucosa		
http://purl.obolibrary.org/obo/UBERON_0001206	serosa of small intestine	http://purl.obolibrary.org/obo/UBERON_0001243	serosa of intestine		
http://purl.obolibrary.org/obo/UBERON_0001209	serosa of large intestine	http://purl.obolibrary.org/obo/UBERON_0001243	serosa of intestine		
http://purl.obolibrary.org/obo/UBERON_0005009	mucosa of trigone of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0001259	mucosa of urinary bladder		
http://purl.obolibrary.org/obo/UBERON_0005010	mucosa of neck of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0001259	mucosa of urinary bladder		
http://purl.obolibrary.org/obo/UBERON_0001168	wall of small intestine	http://purl.obolibrary.org/obo/UBERON_0001262	wall of intestine		
http://purl.obolibrary.org/obo/UBERON_0001169	wall of large intestine	http://purl.obolibrary.org/obo/UBERON_0001262	wall of intestine		
http://purl.obolibrary.org/obo/UBERON_0011092	right pelvic girdle region	http://purl.obolibrary.org/obo/UBERON_0001271	pelvic girdle region		
http://purl.obolibrary.org/obo/UBERON_0011093	left pelvic girdle region	http://purl.obolibrary.org/obo/UBERON_0001271	pelvic girdle region		
http://purl.obolibrary.org/obo/UBERON_0005477	stomach fundus epithelium	http://purl.obolibrary.org/obo/UBERON_0001276	epithelium of stomach		
http://purl.obolibrary.org/obo/UBERON_0005637	pyloric region epithelium	http://purl.obolibrary.org/obo/UBERON_0001276	epithelium of stomach		
http://purl.obolibrary.org/obo/UBERON_0006924	stomach glandular epithelium	http://purl.obolibrary.org/obo/UBERON_0006929	glandular columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0001278	epithelium of large intestine	http://purl.obolibrary.org/obo/UBERON_0001277	intestinal epithelium		
http://purl.obolibrary.org/obo/UBERON_0001902	epithelium of small intestine	http://purl.obolibrary.org/obo/UBERON_0001277	intestinal epithelium		
http://purl.obolibrary.org/obo/UBERON_0011184	epithelium of crypt of Lieberkuhn	http://purl.obolibrary.org/obo/UBERON_0001277	intestinal epithelium		
http://purl.obolibrary.org/obo/UBERON_0000397	colonic epithelium	http://purl.obolibrary.org/obo/UBERON_0001278	epithelium of large intestine		
http://purl.obolibrary.org/obo/UBERON_0003354	epithelium of rectum	http://purl.obolibrary.org/obo/UBERON_0016885	epithelium of terminal part of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0009697	epithelium of appendix	http://purl.obolibrary.org/obo/UBERON_0001278	epithelium of large intestine		
http://purl.obolibrary.org/obo/UBERON_0015716	anal canal epithelium	http://purl.obolibrary.org/obo/UBERON_0014703	anal membrane ectodermal component		
http://purl.obolibrary.org/obo/UBERON_0005221	liver right lobe parenchyma	http://purl.obolibrary.org/obo/UBERON_0001280	liver parenchyma		
http://purl.obolibrary.org/obo/UBERON_0005222	liver left lobe parenchyma	http://purl.obolibrary.org/obo/UBERON_0001280	liver parenchyma		
http://purl.obolibrary.org/obo/UBERON_8400024	subcapsular region of liver	http://purl.obolibrary.org/obo/UBERON_0001280	liver parenchyma		
http://purl.obolibrary.org/obo/UBERON_0009548	hepatic sinusoid of left lobe of liver	http://purl.obolibrary.org/obo/UBERON_0001281	hepatic sinusoid		
http://purl.obolibrary.org/obo/UBERON_0009549	hepatic sinusoid of right lobe of liver	http://purl.obolibrary.org/obo/UBERON_0001281	hepatic sinusoid		
http://purl.obolibrary.org/obo/UBERON_0005110	metanephric nephron	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005309	pronephric nephron	http://purl.obolibrary.org/obo/UBERON_0001285	nephron		
http://purl.obolibrary.org/obo/UBERON_0005322	mesonephric nephron	http://purl.obolibrary.org/obo/UBERON_0001285	nephron		
http://purl.obolibrary.org/obo/UBERON_0005124	metanephric proximal convoluted tubule	http://purl.obolibrary.org/obo/UBERON_0005146	metanephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0007298	pronephric proximal convoluted tubule	http://purl.obolibrary.org/obo/UBERON_0005310	pronephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0005130	metanephric loop of Henle	http://purl.obolibrary.org/obo/UBERON_0005146	metanephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0034997	renal medulla loop of Henle	http://purl.obolibrary.org/obo/UBERON_0001288	loop of Henle		
http://purl.obolibrary.org/obo/UBERON_0005125	metanephric proximal straight tubule	http://purl.obolibrary.org/obo/UBERON_0005146	metanephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0009622	pronephric proximal straight tubule	http://purl.obolibrary.org/obo/UBERON_0005310	pronephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0005117	metanephric distal convoluted tubule	http://purl.obolibrary.org/obo/UBERON_0005146	metanephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0003885	mesometrium	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0000035	primary ovarian follicle	http://purl.obolibrary.org/obo/UBERON_0001305	ovarian follicle		
http://purl.obolibrary.org/obo/UBERON_0000036	secondary ovarian follicle	http://purl.obolibrary.org/obo/UBERON_0001305	ovarian follicle		
http://purl.obolibrary.org/obo/UBERON_0000037	tertiary ovarian follicle	http://purl.obolibrary.org/obo/UBERON_0001305	ovarian follicle		
http://purl.obolibrary.org/obo/UBERON_0003981	primordial ovarian follicle	http://purl.obolibrary.org/obo/UBERON_0001305	ovarian follicle		
http://purl.obolibrary.org/obo/UBERON_0005458	left umbilical artery	http://purl.obolibrary.org/obo/UBERON_0001310	umbilical artery		
http://purl.obolibrary.org/obo/UBERON_0005470	right umbilical artery	http://purl.obolibrary.org/obo/UBERON_0001310	umbilical artery		
http://purl.obolibrary.org/obo/UBERON_0001326	levator ani muscle	http://purl.obolibrary.org/obo/UBERON_0001325	muscle of pelvis		
http://purl.obolibrary.org/obo/UBERON_0001497	muscle of pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0010890	pelvic complex muscle		
http://purl.obolibrary.org/obo/UBERON_0011645	iliofemoralis muscle	http://purl.obolibrary.org/obo/UBERON_0001325	muscle of pelvis		
http://purl.obolibrary.org/obo/UBERON_0013637	prostate gland lateral lobe	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001471	skin of prepuce of penis	http://purl.obolibrary.org/obo/UBERON_0001331	skin of penis		
http://purl.obolibrary.org/obo/UBERON_0010186	male urethral gland	http://purl.obolibrary.org/obo/UBERON_0001338	urethral gland		
http://purl.obolibrary.org/obo/UBERON_0010187	female urethral gland	http://purl.obolibrary.org/obo/UBERON_0001338	urethral gland		
http://purl.obolibrary.org/obo/UBERON_0006923	vagina squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006915	stratified squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0004252	hindlimb stylopod muscle	http://purl.obolibrary.org/obo/UBERON_0001383	muscle of leg		
http://purl.obolibrary.org/obo/UBERON_0004256	hindlimb zeugopod muscle	http://purl.obolibrary.org/obo/UBERON_0001383	muscle of leg		
http://purl.obolibrary.org/obo/UBERON_0012336	perianal skin	http://purl.obolibrary.org/obo/UBERON_0001415	skin of pelvis		
http://purl.obolibrary.org/obo/UBERON_8480026	skin of iliac crest region	http://purl.obolibrary.org/obo/UBERON_0001415	skin of pelvis		
http://purl.obolibrary.org/obo/UBERON_8480024	skin of sacral region	http://purl.obolibrary.org/obo/UBERON_0001415	skin of pelvis		
http://purl.obolibrary.org/obo/UBERON_0010854	skin of front of neck	http://purl.obolibrary.org/obo/UBERON_0012180	head or neck skin		
http://purl.obolibrary.org/obo/UBERON_0001868	skin of chest	http://purl.obolibrary.org/obo/UBERON_0001418	skin of thorax		
http://purl.obolibrary.org/obo/UBERON_0003531	forelimb skin	http://purl.obolibrary.org/obo/UBERON_0001419	skin of limb		
http://purl.obolibrary.org/obo/UBERON_0003532	hindlimb skin	http://purl.obolibrary.org/obo/UBERON_0001419	skin of limb		
http://purl.obolibrary.org/obo/UBERON_0015790	autopod skin	http://purl.obolibrary.org/obo/UBERON_0001419	skin of limb		
http://purl.obolibrary.org/obo/UBERON_0001480	proximal carpal bone	http://purl.obolibrary.org/obo/UBERON_0015078	proximal carpal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001481	distal carpal bone	http://purl.obolibrary.org/obo/UBERON_0018102	distal mesopodial bone		
http://purl.obolibrary.org/obo/UBERON_0002234	proximal phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004302	proximal phalanx		
http://purl.obolibrary.org/obo/UBERON_0003620	manual digit 1 phalanx	http://purl.obolibrary.org/obo/UBERON_0015025	manual digit 1 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003636	manual digit 2 phalanx	http://purl.obolibrary.org/obo/UBERON_0015026	manual digit 2 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003637	manual digit 3 phalanx	http://purl.obolibrary.org/obo/UBERON_0015027	manual digit 3 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003638	manual digit 4 phalanx	http://purl.obolibrary.org/obo/UBERON_0015028	manual digit 4 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003639	manual digit 5 phalanx	http://purl.obolibrary.org/obo/UBERON_0015029	manual digit 5 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003864	middle phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004301	middle phalanx		
http://purl.obolibrary.org/obo/UBERON_0003865	distal phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004300	distal phalanx		
http://purl.obolibrary.org/obo/UBERON_0004379	distal epiphysis	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004380	proximal epiphysis	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004382	epiphysis of humerus	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004383	epiphysis of tibia	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004384	epiphysis of femur	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004385	epiphysis of radius	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004386	epiphysis of ulna	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004388	epiphysis of fibula	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004390	epiphysis of metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004446	epiphysis of phalanx	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0011973	epiphysis of phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004377	distal metaphysis	http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis		
http://purl.obolibrary.org/obo/UBERON_0004378	proximal metaphysis	http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis		
http://purl.obolibrary.org/obo/UBERON_0006865	metaphysis of femur	http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis		
http://purl.obolibrary.org/obo/UBERON_0013748	ulnar metaphysis	http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis		
http://purl.obolibrary.org/obo/UBERON_0013749	metaphysis of humerus	http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis		
http://purl.obolibrary.org/obo/UBERON_0013750	metaphysis of tibia	http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis		
http://purl.obolibrary.org/obo/UBERON_0013751	metaphysis of radius	http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis		
http://purl.obolibrary.org/obo/UBERON_0016928	metaphysis of fibula	http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis		
http://purl.obolibrary.org/obo/UBERON_0001456	face	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0001691	external ear	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001757	pinna	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0003679	mouth floor	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_8480069	temporofacial region	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0004088	orbital region	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0004089	midface	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0008200	forehead	http://purl.obolibrary.org/obo/UBERON_0001444	subdivision of head		
http://purl.obolibrary.org/obo/UBERON_0010721	distal tarsal bone	http://purl.obolibrary.org/obo/UBERON_0018102	distal mesopodial bone		
http://purl.obolibrary.org/obo/UBERON_0011679	proximal tarsal bone	http://purl.obolibrary.org/obo/UBERON_0015081	proximal tarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003650	metatarsal bone of digit 1	http://purl.obolibrary.org/obo/UBERON_0015037	pedal digit 1 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003651	metatarsal bone of digit 2	http://purl.obolibrary.org/obo/UBERON_0015038	pedal digit 2 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003652	metatarsal bone of digit 3	http://purl.obolibrary.org/obo/UBERON_0015039	pedal digit 3 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003653	metatarsal bone of digit 4	http://purl.obolibrary.org/obo/UBERON_0015040	pedal digit 4 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003654	metatarsal bone of digit 5	http://purl.obolibrary.org/obo/UBERON_0015041	pedal digit 5 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0013588	fused metatarsal bones 3 and 4	http://purl.obolibrary.org/obo/UBERON_0013586	fused metapodial bones 3 and 4		
http://purl.obolibrary.org/obo/UBERON_0003640	pedal digit 1 phalanx	http://purl.obolibrary.org/obo/UBERON_0015031	pedal digit 1 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003641	pedal digit 2 phalanx	http://purl.obolibrary.org/obo/UBERON_0015032	pedal digit 2 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003642	pedal digit 3 phalanx	http://purl.obolibrary.org/obo/UBERON_0015033	pedal digit 3 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003862	pedal digit 4 phalanx	http://purl.obolibrary.org/obo/UBERON_0015034	pedal digit 4 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003863	pedal digit 5 phalanx	http://purl.obolibrary.org/obo/UBERON_0015035	pedal digit 5 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003866	middle phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0004301	middle phalanx		
http://purl.obolibrary.org/obo/UBERON_0003867	distal phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0004300	distal phalanx		
http://purl.obolibrary.org/obo/UBERON_0003868	proximal phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0004302	proximal phalanx		
http://purl.obolibrary.org/obo/UBERON_0013766	epicanthal fold	http://purl.obolibrary.org/obo/UBERON_0001457	skin of eyelid		
http://purl.obolibrary.org/obo/UBERON_0018150	skin of lower lip	http://purl.obolibrary.org/obo/UBERON_0001458	skin of lip		
http://purl.obolibrary.org/obo/UBERON_0018151	skin of upper lip	http://purl.obolibrary.org/obo/UBERON_0001458	skin of lip		
http://purl.obolibrary.org/obo/UBERON_0019241	pedal digit 1 or 5	http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0019242	pedal digit 2, 3 or 4	http://purl.obolibrary.org/obo/UBERON_0019222	digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0011200	sacrococcygeal symphysis	http://purl.obolibrary.org/obo/UBERON_0001468	intervertebral joint		
http://purl.obolibrary.org/obo/UBERON_0035198	superficial lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0035545	deep lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0001422	facial lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0001425	pectoral lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0003456	respiratory system lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0007384	appendage lymph vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_8410030	lymphatic vessel of appendix	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_8410002	small intestine lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_8410051	lymphatic vessel of colon	http://purl.obolibrary.org/obo/UBERON_0001473	lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0002495	long bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0001075	bony vertebral centrum	http://purl.obolibrary.org/obo/UBERON_0016491	vertebral centrum element		
http://purl.obolibrary.org/obo/UBERON_0002513	endochondral bone	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002514	intramembranous bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0003458	neck bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0003463	trunk bone	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0004247	bone of dorsum	http://purl.obolibrary.org/obo/UBERON_0005174	dorsal region element		
http://purl.obolibrary.org/obo/UBERON_0004376	fin bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0004766	cranial bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0006068	bone of tail	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0007719	bone of reproductive organ	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0007842	membrane bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0007914	bone of craniocervical region	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0008001	irregular bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0008193	pneumatized bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0008202	bone of hip region	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0010428	flat bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0012075	replacement bone	http://purl.obolibrary.org/obo/UBERON_0010522	replacement element		
http://purl.obolibrary.org/obo/UBERON_0013630	short bone	http://purl.obolibrary.org/obo/UBERON_0001474	bone element		
http://purl.obolibrary.org/obo/UBERON_0002446	patella	http://purl.obolibrary.org/obo/UBERON_0011141	appendicular ossicle		
http://purl.obolibrary.org/obo/UBERON_0007997	sesamoid bone of manus	http://purl.obolibrary.org/obo/UBERON_0011141	appendicular ossicle		
http://purl.obolibrary.org/obo/UBERON_0008000	sesamoid bone of pes	http://purl.obolibrary.org/obo/UBERON_0011141	appendicular ossicle		
http://purl.obolibrary.org/obo/UBERON_0001427	radiale	http://purl.obolibrary.org/obo/UBERON_0001480	proximal carpal bone		
http://purl.obolibrary.org/obo/UBERON_0001428	intermedium	http://purl.obolibrary.org/obo/UBERON_0001480	proximal carpal bone		
http://purl.obolibrary.org/obo/UBERON_0001429	pisiform	http://purl.obolibrary.org/obo/UBERON_0007997	sesamoid bone of manus		
http://purl.obolibrary.org/obo/UBERON_0002445	ulnare	http://purl.obolibrary.org/obo/UBERON_0001480	proximal carpal bone		
http://purl.obolibrary.org/obo/UBERON_0001433	distal carpal bone 4	http://purl.obolibrary.org/obo/UBERON_0015093	distal carpal bone 4 endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001112	latissimus dorsi muscle	http://purl.obolibrary.org/obo/UBERON_0034908	scapular muscle		
http://purl.obolibrary.org/obo/UBERON_0001125	serratus ventralis	http://purl.obolibrary.org/obo/UBERON_0034908	scapular muscle		
http://purl.obolibrary.org/obo/UBERON_0001476	deltoid	http://purl.obolibrary.org/obo/UBERON_0034908	scapular muscle		
http://purl.obolibrary.org/obo/UBERON_0001509	triceps brachii	http://purl.obolibrary.org/obo/UBERON_0034908	scapular muscle		
http://purl.obolibrary.org/obo/UBERON_0002380	trapezius muscle	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005461	levator scapulae muscle	http://purl.obolibrary.org/obo/UBERON_0034908	scapular muscle		
http://purl.obolibrary.org/obo/UBERON_0011366	cleidobrachialis muscle	http://purl.obolibrary.org/obo/UBERON_0001482	muscle of shoulder		
http://purl.obolibrary.org/obo/UBERON_0011368	brachiocephalic muscle	http://purl.obolibrary.org/obo/UBERON_0001482	muscle of shoulder		
http://purl.obolibrary.org/obo/UBERON_0011960	articular capsule of glenohumeral joint	http://purl.obolibrary.org/obo/UBERON_0001484	articular capsule		
http://purl.obolibrary.org/obo/UBERON_0011961	articular capsule of hip joint	http://purl.obolibrary.org/obo/UBERON_0005179	pelvic region element		
http://purl.obolibrary.org/obo/UBERON_0003696	metatarsophalangeal joint	http://purl.obolibrary.org/obo/UBERON_0001487	pes joint		
http://purl.obolibrary.org/obo/UBERON_0007721	interphalangeal joint of pes	http://purl.obolibrary.org/obo/UBERON_0006658	interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0008447	intertarsal joint	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0011118	tarsometatarsal joint	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0011133	intermetatarsal joint	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0011969	mesotarsal joint	http://purl.obolibrary.org/obo/UBERON_0011980	crurotarsal joint		
http://purl.obolibrary.org/obo/UBERON_0011980	crurotarsal joint	http://purl.obolibrary.org/obo/UBERON_0001488	ankle joint		
http://purl.obolibrary.org/obo/UBERON_0001491	wrist joint	http://purl.obolibrary.org/obo/UBERON_0001489	manus joint		
http://purl.obolibrary.org/obo/UBERON_0003695	metacarpophalangeal joint	http://purl.obolibrary.org/obo/UBERON_0001489	manus joint		
http://purl.obolibrary.org/obo/UBERON_0007722	interphalangeal joint of manus	http://purl.obolibrary.org/obo/UBERON_0006658	interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0011119	carpometacarpal joint	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0011131	intermetacarpal joint	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0011132	intercarpal joint	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0011968	radio-carpal joint	http://purl.obolibrary.org/obo/UBERON_0001491	wrist joint		
http://purl.obolibrary.org/obo/UBERON_0003659	pedal digit muscle	http://purl.obolibrary.org/obo/UBERON_0001498	muscle of pes		
http://purl.obolibrary.org/obo/UBERON_0004254	forelimb zeugopod muscle	http://purl.obolibrary.org/obo/UBERON_0001499	muscle of arm		
http://purl.obolibrary.org/obo/UBERON_0004255	forelimb stylopod muscle	http://purl.obolibrary.org/obo/UBERON_0001499	muscle of arm		
http://purl.obolibrary.org/obo/UBERON_0003664	manual digit muscle	http://purl.obolibrary.org/obo/UBERON_0001500	muscle of manus		
http://purl.obolibrary.org/obo/UBERON_0001510	skin of knee	http://purl.obolibrary.org/obo/UBERON_0001511	skin of leg		
http://purl.obolibrary.org/obo/UBERON_0004262	upper leg skin	http://purl.obolibrary.org/obo/UBERON_0001511	skin of leg		
http://purl.obolibrary.org/obo/UBERON_0004264	lower leg skin	http://purl.obolibrary.org/obo/UBERON_0001511	skin of leg		
http://purl.obolibrary.org/obo/UBERON_0015873	heel skin	http://purl.obolibrary.org/obo/UBERON_0001512	skin of ankle		
http://purl.obolibrary.org/obo/UBERON_0001512	skin of ankle	http://purl.obolibrary.org/obo/UBERON_0001513	skin of pes		
http://purl.obolibrary.org/obo/UBERON_0003530	pedal digit skin	http://purl.obolibrary.org/obo/UBERON_0015249	digit skin		
http://purl.obolibrary.org/obo/UBERON_0013778	skin of sole of pes	http://purl.obolibrary.org/obo/UBERON_0013776	skin of palmar/plantar part of autopod		
http://purl.obolibrary.org/obo/UBERON_0001496	ascending aorta	http://purl.obolibrary.org/obo/UBERON_0001515	thoracic aorta		
http://purl.obolibrary.org/obo/UBERON_0001508	arch of aorta	http://purl.obolibrary.org/obo/UBERON_0001515	thoracic aorta		
http://purl.obolibrary.org/obo/UBERON_0001518	skin of wrist	http://purl.obolibrary.org/obo/UBERON_0001519	skin of manus		
http://purl.obolibrary.org/obo/UBERON_0003533	manual digit skin	http://purl.obolibrary.org/obo/UBERON_0015249	digit skin		
http://purl.obolibrary.org/obo/UBERON_0013777	skin of palm of manus	http://purl.obolibrary.org/obo/UBERON_0013776	skin of palmar/plantar part of autopod		
http://purl.obolibrary.org/obo/UBERON_0001531	right common carotid artery plus branches	http://purl.obolibrary.org/obo/UBERON_0001530	common carotid artery plus branches		
http://purl.obolibrary.org/obo/UBERON_0001536	left common carotid artery plus branches	http://purl.obolibrary.org/obo/UBERON_0001530	common carotid artery plus branches		
http://purl.obolibrary.org/obo/UBERON_0007142	left internal carotid artery	http://purl.obolibrary.org/obo/UBERON_0001532	internal carotid artery		
http://purl.obolibrary.org/obo/UBERON_0007143	right internal carotid artery	http://purl.obolibrary.org/obo/UBERON_0001532	internal carotid artery		
http://purl.obolibrary.org/obo/UBERON_0001534	right subclavian artery	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001584	left subclavian artery	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0000002	uterine cervix	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001258	neck of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0001560	neck of organ		
http://purl.obolibrary.org/obo/UBERON_0015181	neck of tooth	http://purl.obolibrary.org/obo/UBERON_0001560	neck of organ		
http://purl.obolibrary.org/obo/UBERON_0018664	neck of bone element	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0035267	neck of gallbladder	http://purl.obolibrary.org/obo/UBERON_0001560	neck of organ		
http://purl.obolibrary.org/obo/UBERON_0001571	genioglossus muscle	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001572	hyoglossus muscle	http://purl.obolibrary.org/obo/UBERON_0001575	extrinsic muscle of tongue		
http://purl.obolibrary.org/obo/UBERON_0008522	nasal muscle	http://purl.obolibrary.org/obo/UBERON_0001577	facial muscle		
http://purl.obolibrary.org/obo/UBERON_0001330	pampiniform plexus	http://purl.obolibrary.org/obo/UBERON_0001593	venous plexus		
http://purl.obolibrary.org/obo/UBERON_0001472	vaginal venous plexus	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0008887	rectal venous plexus	http://purl.obolibrary.org/obo/UBERON_0001593	venous plexus		
http://purl.obolibrary.org/obo/UBERON_0009042	prostatic venous plexus	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0001607	sphincter pupillae	http://purl.obolibrary.org/obo/UBERON_0007521	smooth muscle sphincter		
http://purl.obolibrary.org/obo/UBERON_0000933	chordate pharyngeal muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0000951	rotator muscle of the vertebral column	http://purl.obolibrary.org/obo/UBERON_0005174	dorsal region element		
http://purl.obolibrary.org/obo/UBERON_0003660	eyelid muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0003831	respiratory system muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0003832	esophagus muscle	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0004253	skin muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0004277	eye muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0004590	sphincter muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0011222	intra-ocular muscle	http://purl.obolibrary.org/obo/UBERON_0004277	eye muscle		
http://purl.obolibrary.org/obo/UBERON_0014783	cloacal muscle	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0018544	trigeminal nerve muscle	http://purl.obolibrary.org/obo/UBERON_0001630	muscle organ		
http://purl.obolibrary.org/obo/UBERON_0006666	great cerebral vein	http://purl.obolibrary.org/obo/UBERON_0001663	cerebral vein		
http://purl.obolibrary.org/obo/UBERON_0035174	right ear	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0035295	left ear	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0019254	upper eyelash	http://purl.obolibrary.org/obo/UBERON_0010171	strand of hair of face		
http://purl.obolibrary.org/obo/UBERON_0019255	lower eyelash	http://purl.obolibrary.org/obo/UBERON_0010171	strand of hair of face		
http://purl.obolibrary.org/obo/UBERON_0000395	cochlear ganglion	http://purl.obolibrary.org/obo/UBERON_0001714	cranial ganglion		
http://purl.obolibrary.org/obo/UBERON_0001675	trigeminal ganglion	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002824	vestibular ganglion	http://purl.obolibrary.org/obo/UBERON_0001800	sensory ganglion		
http://purl.obolibrary.org/obo/UBERON_0002827	vestibulocochlear ganglion	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003963	otic ganglion	http://purl.obolibrary.org/obo/UBERON_0001808	parasympathetic ganglion		
http://purl.obolibrary.org/obo/UBERON_0009127	epibranchial ganglion	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0012175	acoustico-facial VII-VIII ganglion complex	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0013498	vestibulo-cochlear VIII ganglion complex	http://purl.obolibrary.org/obo/UBERON_0001714	cranial ganglion		
http://purl.obolibrary.org/obo/UBERON_0014389	gustatory papilla of tongue	http://purl.obolibrary.org/obo/UBERON_0001726	papilla of tongue		
http://purl.obolibrary.org/obo/UBERON_0014451	tongue taste bud	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0034717	integumental taste bud	http://purl.obolibrary.org/obo/UBERON_0001727	taste bud		
http://purl.obolibrary.org/obo/UBERON_0034719	lip taste bud	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0034721	pharyngeal taste bud	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0034722	mouth roof taste bud	http://purl.obolibrary.org/obo/UBERON_0001727	taste bud		
http://purl.obolibrary.org/obo/UBERON_0034723	fin taste bud	http://purl.obolibrary.org/obo/UBERON_0001727	taste bud		
http://purl.obolibrary.org/obo/UBERON_0034724	esophageal taste bud	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0003483	thymus lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001744	lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0012069	epithelium-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001744	lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0013689	appendix lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001744	lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0022360	male mammary gland duct	http://purl.obolibrary.org/obo/UBERON_0001765	mammary duct		
http://purl.obolibrary.org/obo/UBERON_0002324	muscle of back	http://purl.obolibrary.org/obo/UBERON_0005174	dorsal region element		
http://purl.obolibrary.org/obo/UBERON_0003830	thoracic segment muscle	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0003833	abdominal segment muscle	http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element		
http://purl.obolibrary.org/obo/UBERON_0000962	nerve of cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0001780	spinal nerve		
http://purl.obolibrary.org/obo/UBERON_0003726	thoracic nerve	http://purl.obolibrary.org/obo/UBERON_0001780	spinal nerve		
http://purl.obolibrary.org/obo/UBERON_0003727	intercostal nerve	http://purl.obolibrary.org/obo/UBERON_0001780	spinal nerve		
http://purl.obolibrary.org/obo/UBERON_0009624	lumbar nerve	http://purl.obolibrary.org/obo/UBERON_0001780	spinal nerve		
http://purl.obolibrary.org/obo/UBERON_0009625	sacral nerve	http://purl.obolibrary.org/obo/UBERON_0001780	spinal nerve		
http://purl.obolibrary.org/obo/UBERON_0009674	accessory XI nerve spinal component	http://purl.obolibrary.org/obo/UBERON_0001780	spinal nerve		
http://purl.obolibrary.org/obo/UBERON_0001787	photoreceptor layer of retina	http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina		
http://purl.obolibrary.org/obo/UBERON_0001789	outer nuclear layer of retina	http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina		
http://purl.obolibrary.org/obo/UBERON_0001790	outer plexiform layer of retina	http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina		
http://purl.obolibrary.org/obo/UBERON_0001791	inner nuclear layer of retina	http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina		
http://purl.obolibrary.org/obo/UBERON_0001792	ganglionic layer of retina	http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina		
http://purl.obolibrary.org/obo/UBERON_0001793	nerve fiber layer of retina	http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina		
http://purl.obolibrary.org/obo/UBERON_0001795	inner plexiform layer of retina	http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina		
http://purl.obolibrary.org/obo/UBERON_0003902	retinal neural layer	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0007619	limiting membrane of retina	http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina		
http://purl.obolibrary.org/obo/UBERON_0001700	geniculate ganglion	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005614	lens anterior epithelium	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0001806	sympathetic ganglion	http://purl.obolibrary.org/obo/UBERON_0001805	autonomic ganglion		
http://purl.obolibrary.org/obo/UBERON_0001808	parasympathetic ganglion	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002059	submandibular ganglion	http://purl.obolibrary.org/obo/UBERON_0001808	parasympathetic ganglion		
http://purl.obolibrary.org/obo/UBERON_0005407	sublingual ganglion	http://purl.obolibrary.org/obo/UBERON_0001808	parasympathetic ganglion		
http://purl.obolibrary.org/obo/UBERON_0014463	cardiac ganglion	http://purl.obolibrary.org/obo/UBERON_0001808	parasympathetic ganglion		
http://purl.obolibrary.org/obo/UBERON_0001813	spinal nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001810	nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0001816	autonomic nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001810	nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0012373	sympathetic nerve plexus	http://purl.obolibrary.org/obo/UBERON_0001816	autonomic nerve plexus		
http://purl.obolibrary.org/obo/UBERON_0005047	mucosa of vocal fold	http://purl.obolibrary.org/obo/UBERON_0001824	mucosa of larynx		
http://purl.obolibrary.org/obo/UBERON_0005386	olfactory segment of nasal mucosa	http://purl.obolibrary.org/obo/UBERON_0001826	nasal cavity mucosa		
http://purl.obolibrary.org/obo/UBERON_0001832	sublingual gland	http://purl.obolibrary.org/obo/UBERON_0001829	major salivary gland		
http://purl.obolibrary.org/obo/UBERON_0001736	submandibular gland	http://purl.obolibrary.org/obo/UBERON_0001829	major salivary gland		
http://purl.obolibrary.org/obo/UBERON_0035045	parotid gland intralobular duct	http://purl.obolibrary.org/obo/UBERON_0014719	intralobular duct		
http://purl.obolibrary.org/obo/UBERON_0001838	sublingual duct	http://purl.obolibrary.org/obo/UBERON_0001837	duct of salivary gland		
http://purl.obolibrary.org/obo/UBERON_0002334	submandibular duct	http://purl.obolibrary.org/obo/UBERON_0001837	duct of salivary gland		
http://purl.obolibrary.org/obo/UBERON_0035049	excretory duct of salivary gland	http://purl.obolibrary.org/obo/UBERON_0035050	excretory duct		
http://purl.obolibrary.org/obo/UBERON_0001235	adrenal cortex	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001225	cortex of kidney	http://purl.obolibrary.org/obo/UBERON_0001851	cortex		
http://purl.obolibrary.org/obo/UBERON_0002006	cortex of lymph node	http://purl.obolibrary.org/obo/UBERON_0001851	cortex		
http://purl.obolibrary.org/obo/UBERON_0002077	cortex of hair	http://purl.obolibrary.org/obo/UBERON_0001851	cortex		
http://purl.obolibrary.org/obo/UBERON_0002123	cortex of thymus	http://purl.obolibrary.org/obo/UBERON_0001851	cortex		
http://purl.obolibrary.org/obo/UBERON_0013191	ovarian cortex	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0019315	meibum	http://purl.obolibrary.org/obo/UBERON_0001866	sebum		
http://purl.obolibrary.org/obo/UBERON_0019200	skin of anterior chest	http://purl.obolibrary.org/obo/UBERON_0001868	skin of chest		
http://purl.obolibrary.org/obo/UBERON_8480030	skin of breast	http://purl.obolibrary.org/obo/UBERON_0001868	skin of chest		
http://purl.obolibrary.org/obo/UBERON_0002810	right frontal lobe	http://purl.obolibrary.org/obo/UBERON_0001870	frontal cortex		
http://purl.obolibrary.org/obo/UBERON_0002811	left frontal lobe	http://purl.obolibrary.org/obo/UBERON_0001870	frontal cortex		
http://purl.obolibrary.org/obo/UBERON_0005499	rhombomere 1	http://purl.obolibrary.org/obo/UBERON_0001892	rhombomere		
http://purl.obolibrary.org/obo/UBERON_0000400	jejunal epithelium	http://purl.obolibrary.org/obo/UBERON_0013636	epithelium of intestinal villus		
http://purl.obolibrary.org/obo/UBERON_0013636	epithelium of intestinal villus	http://purl.obolibrary.org/obo/UBERON_0001902	epithelium of small intestine		
http://purl.obolibrary.org/obo/UBERON_0003488	abdominal mammary gland	http://purl.obolibrary.org/obo/UBERON_0005172	abdomen element		
http://purl.obolibrary.org/obo/UBERON_0005199	cervical mammary gland	http://purl.obolibrary.org/obo/UBERON_0001911	mammary gland		
http://purl.obolibrary.org/obo/UBERON_0005200	thoracic mammary gland	http://purl.obolibrary.org/obo/UBERON_0005175	chest organ		
http://purl.obolibrary.org/obo/UBERON_0008424	inguinal mammary gland	http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element		
http://purl.obolibrary.org/obo/UBERON_0003489	respiratory system capillary endothelium	http://purl.obolibrary.org/obo/UBERON_0004702	respiratory system blood vessel endothelium		
http://purl.obolibrary.org/obo/UBERON_0004294	glomerular capillary endothelium	http://purl.obolibrary.org/obo/UBERON_0004189	glomerular endothelium		
http://purl.obolibrary.org/obo/UBERON_0004848	respiratory system arterial endothelium	http://purl.obolibrary.org/obo/UBERON_0004702	respiratory system blood vessel endothelium		
http://purl.obolibrary.org/obo/UBERON_0005317	pulmonary artery endothelium	http://purl.obolibrary.org/obo/UBERON_0001917	endothelium of artery		
http://purl.obolibrary.org/obo/UBERON_0007778	umbilical artery endothelium	http://purl.obolibrary.org/obo/UBERON_0001917	endothelium of artery		
http://purl.obolibrary.org/obo/UBERON_0019189	carotid artery endothelium	http://purl.obolibrary.org/obo/UBERON_0001917	endothelium of artery		
http://purl.obolibrary.org/obo/UBERON_0019196	iliac artery endothelium	http://purl.obolibrary.org/obo/UBERON_0001917	endothelium of artery		
http://purl.obolibrary.org/obo/UBERON_0004698	vena cava endothelium	http://purl.obolibrary.org/obo/UBERON_0001919	endothelium of vein		
http://purl.obolibrary.org/obo/UBERON_0004849	respiratory system venous endothelium	http://purl.obolibrary.org/obo/UBERON_0004702	respiratory system blood vessel endothelium		
http://purl.obolibrary.org/obo/UBERON_0005844	spinal cord segment	http://purl.obolibrary.org/obo/UBERON_0001948	regional part of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0001102	cartilage of main bronchus	http://purl.obolibrary.org/obo/UBERON_0001956	cartilage of bronchus		
http://purl.obolibrary.org/obo/UBERON_0004949	submucosa of main bronchus	http://purl.obolibrary.org/obo/UBERON_0001957	submucosa of bronchus		
http://purl.obolibrary.org/obo/UBERON_0004950	submucosa of lobar bronchus	http://purl.obolibrary.org/obo/UBERON_0001957	submucosa of bronchus		
http://purl.obolibrary.org/obo/UBERON_0004951	submucosa of segmental bronchus	http://purl.obolibrary.org/obo/UBERON_0001957	submucosa of bronchus		
http://purl.obolibrary.org/obo/UBERON_0012330	nasal-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0013478	cecal tonsil	http://purl.obolibrary.org/obo/UBERON_0001962	gut-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0003283	mesentery of oesophagus	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0006920	esophagus squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006914	squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0003494	respiratory system venule	http://purl.obolibrary.org/obo/UBERON_0003504	respiratory system blood vessel		
http://purl.obolibrary.org/obo/UBERON_8410020	venule of appendix	http://purl.obolibrary.org/obo/UBERON_0001979	venule		
http://purl.obolibrary.org/obo/UBERON_8410001	small intestine venule	http://purl.obolibrary.org/obo/UBERON_0001979	venule		
http://purl.obolibrary.org/obo/UBERON_8410008	venule of anorectum	http://purl.obolibrary.org/obo/UBERON_0001979	venule		
http://purl.obolibrary.org/obo/UBERON_8410041	venule of lymph node	http://purl.obolibrary.org/obo/UBERON_0001979	venule		
http://purl.obolibrary.org/obo/UBERON_8410048	venule of colon	http://purl.obolibrary.org/obo/UBERON_0001979	venule		
http://purl.obolibrary.org/obo/UBERON_0003495	respiratory system arteriole	http://purl.obolibrary.org/obo/UBERON_0003643	respiratory system arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004639	renal afferent arteriole	http://purl.obolibrary.org/obo/UBERON_0003644	kidney arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0022292	splenic arteriole	http://purl.obolibrary.org/obo/UBERON_0003497	abdomen blood vessel		
http://purl.obolibrary.org/obo/UBERON_8410028	arteriole of appendix	http://purl.obolibrary.org/obo/UBERON_0001980	arteriole		
http://purl.obolibrary.org/obo/UBERON_8410004	small intestine arteriole	http://purl.obolibrary.org/obo/UBERON_0001980	arteriole		
http://purl.obolibrary.org/obo/UBERON_8410009	arteriole of anorectum	http://purl.obolibrary.org/obo/UBERON_0001980	arteriole		
http://purl.obolibrary.org/obo/UBERON_8410015	arteriole of colon	http://purl.obolibrary.org/obo/UBERON_0001980	arteriole		
http://purl.obolibrary.org/obo/UBERON_8410042	arteriole of lymph node	http://purl.obolibrary.org/obo/UBERON_0001980	arteriole		
http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003499	brain blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003502	neck blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003504	respiratory system blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003509	arterial blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003513	trunk blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003519	thoracic cavity blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003524	tail blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003920	venous blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004258	back blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004365	vitelline blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0007301	appendage blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0010260	umbilical blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0014907	intersomitic vessel	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0015172	endometrial blood vessel	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0020550	auricular blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0022358	placenta blood vessel	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_8410081	blood microvessel	http://purl.obolibrary.org/obo/UBERON_0010523	microcirculatory vessel		
http://purl.obolibrary.org/obo/UBERON_0036269	penis blood vessel	http://purl.obolibrary.org/obo/UBERON_0001981	blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001985	corneal endothelium	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0003280	endothelium of main bronchus	http://purl.obolibrary.org/obo/UBERON_0002340	epithelium of main bronchus		
http://purl.obolibrary.org/obo/UBERON_0003915	endothelial tube	http://purl.obolibrary.org/obo/UBERON_0003914	epithelial tube		
http://purl.obolibrary.org/obo/UBERON_0004850	lymph node endothelium	http://purl.obolibrary.org/obo/UBERON_0001986	endothelium		
http://purl.obolibrary.org/obo/UBERON_0004852	cardiovascular system endothelium	http://purl.obolibrary.org/obo/UBERON_0001986	endothelium		
http://purl.obolibrary.org/obo/UBERON_0005672	right lung endothelium	http://purl.obolibrary.org/obo/UBERON_0003364	epithelium of right lung		
http://purl.obolibrary.org/obo/UBERON_0005673	left lung endothelium	http://purl.obolibrary.org/obo/UBERON_0003365	epithelium of left lung		
http://purl.obolibrary.org/obo/UBERON_0010294	scleral endothelium	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0013694	brain endothelium	http://purl.obolibrary.org/obo/UBERON_0001986	endothelium		
http://purl.obolibrary.org/obo/UBERON_0010996	articular cartilage of joint	http://purl.obolibrary.org/obo/UBERON_0001994	hyaline cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0006444	annulus fibrosus	http://purl.obolibrary.org/obo/UBERON_0001995	fibrocartilage		
http://purl.obolibrary.org/obo/UBERON_0002293	costochondral joint	http://purl.obolibrary.org/obo/UBERON_0002215	synchondrosis		
http://purl.obolibrary.org/obo/UBERON_0005137	metanephric capsule	http://purl.obolibrary.org/obo/UBERON_0002015	kidney capsule		
http://purl.obolibrary.org/obo/UBERON_0006170	mesonephric capsule	http://purl.obolibrary.org/obo/UBERON_0002015	kidney capsule		
http://purl.obolibrary.org/obo/UBERON_0001216	jejunal vein	http://purl.obolibrary.org/obo/UBERON_0002017	portal vein		
http://purl.obolibrary.org/obo/UBERON_0001217	ileal vein	http://purl.obolibrary.org/obo/UBERON_0002017	portal vein		
http://purl.obolibrary.org/obo/UBERON_0001218	middle colic vein	http://purl.obolibrary.org/obo/UBERON_0002017	portal vein		
http://purl.obolibrary.org/obo/UBERON_0001639	hepatic portal vein	http://purl.obolibrary.org/obo/UBERON_0002017	portal vein		
http://purl.obolibrary.org/obo/UBERON_8410017	left colic vein	http://purl.obolibrary.org/obo/UBERON_0002017	portal vein		
http://purl.obolibrary.org/obo/UBERON_8410018	right colic vein	http://purl.obolibrary.org/obo/UBERON_0002017	portal vein		
http://purl.obolibrary.org/obo/UBERON_0002315	gray matter of spinal cord	http://purl.obolibrary.org/obo/UBERON_0002020	gray matter		
http://purl.obolibrary.org/obo/UBERON_0003528	brain gray matter	http://purl.obolibrary.org/obo/UBERON_0002020	gray matter		
http://purl.obolibrary.org/obo/UBERON_0007245	nuclear complex of neuraxis	http://purl.obolibrary.org/obo/UBERON_0002020	gray matter		
http://purl.obolibrary.org/obo/UBERON_0010123	future facial nucleus	http://purl.obolibrary.org/obo/UBERON_0002020	gray matter		
http://purl.obolibrary.org/obo/UBERON_0010125	future superior salivatory nucleus	http://purl.obolibrary.org/obo/UBERON_0002020	gray matter		
http://purl.obolibrary.org/obo/UBERON_0010285	midbrain basal plate	http://purl.obolibrary.org/obo/UBERON_0002020	gray matter		
http://purl.obolibrary.org/obo/UBERON_0002340	epithelium of main bronchus	http://purl.obolibrary.org/obo/UBERON_0002031	epithelium of bronchus		
http://purl.obolibrary.org/obo/UBERON_0001134	skeletal muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002036	striated muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0010059	hypoglossal cord	http://purl.obolibrary.org/obo/UBERON_0002036	striated muscle tissue		
http://purl.obolibrary.org/obo/UBERON_8600006	visceral striated muscle tissue	http://purl.obolibrary.org/obo/UBERON_8600004	visceral muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0003529	respiratory system lymphatic vessel endothelium	http://purl.obolibrary.org/obo/UBERON_0004807	respiratory system epithelium		
http://purl.obolibrary.org/obo/UBERON_0035549	vasculature of integument	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0035551	deep vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0002200	vasculature of head	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0002201	vasculature of trunk	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0004374	vitelline vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0004522	vasculature of musculoskeletal system	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0004536	lymph vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0004537	blood vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0004581	systemic venous system	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0005629	vascular plexus	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0005806	portal system	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0007204	brachiocephalic vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0007304	appendage vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0007807	connecting stalk vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0010204	tail vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_2001073	axial vasculature	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0036302	vasculature of central nervous system plus retina	http://purl.obolibrary.org/obo/UBERON_0002049	vasculature		
http://purl.obolibrary.org/obo/UBERON_0000087	inner cell mass	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0000088	trophoblast	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0000091	bilaminar disc	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0000164	primitive urogenital sinus	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0000358	blastocyst	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0000371	syncytiotrophoblast	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0002062	endocardial cushion	http://purl.obolibrary.org/obo/UBERON_0014387	mesenchyme derived from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002296	dorsal mesentery	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0002532	epiblast (generic)	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0002533	post-anal tail bud	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0003057	chordal neural plate	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0003063	prechordal plate	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0003064	intermediate mesoderm	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0003068	axial mesoderm	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0003076	posterior neural tube	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0003080	anterior neural tube	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0003081	lateral plate mesoderm	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0003887	intraembryonic coelom	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004139	cardiogenic plate	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004140	primary heart field	http://purl.obolibrary.org/obo/UBERON_0007688	anlage		
http://purl.obolibrary.org/obo/UBERON_0004356	apical ectodermal ridge	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004364	ectoplacental cone	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004706	bulbus cordis	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004871	somatic layer of lateral plate mesoderm	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004872	splanchnic layer of lateral plate mesoderm	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004873	splanchnopleure	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004874	somatopleure	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004875	nephrogenic cord	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0004880	chordamesoderm	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005051	mediastinum testis	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005061	neural groove	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005062	neural fold	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0005092	right horn of sinus venosus	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005095	kidney rudiment	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005294	gonadal ridge	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005594	head somite	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0005732	paired limb/fin field	http://purl.obolibrary.org/obo/UBERON_0007688	anlage		
http://purl.obolibrary.org/obo/UBERON_0005753	caudal part of nephrogenic cord	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005754	rostral part of nephrogenic cord	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005792	nephric ridge	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005868	maxillary prominence	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0005876	undifferentiated genital tubercle	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0006218	common atrial chamber	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0006232	facio-acoustic VII-VIII preganglion complex	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0006260	lingual swellings	http://purl.obolibrary.org/obo/UBERON_0010188	protuberance		
http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0006756	median lingual swelling	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0006757	lateral lingual swelling	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0007128	glomeral mesenchyme	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0007144	embryonic post-anal tail	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0007237	1st arch mandibular component	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0007238	1st arch maxillary component	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0009210	pharyngeal membrane	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0009668	ventral mesentery	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0009889	secondary heart field	http://purl.obolibrary.org/obo/UBERON_0007688	anlage		
http://purl.obolibrary.org/obo/UBERON_0010963	trunk and cervical myotome group	http://purl.obolibrary.org/obo/UBERON_0003082	myotome		
http://purl.obolibrary.org/obo/UBERON_0012314	embryonic facial prominence	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0013241	embryonic urethral groove	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0034878	prechordal mesoderm	http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0036146	cardiopharyngeal field	http://purl.obolibrary.org/obo/UBERON_0007688	anlage		
http://purl.obolibrary.org/obo/UBERON_8600001	epithelium of lobular bronchiole	http://purl.obolibrary.org/obo/UBERON_0002051	epithelium of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0001955	epithelium of respiratory bronchiole	http://purl.obolibrary.org/obo/UBERON_0002051	epithelium of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0001958	terminal bronchiole epithelium	http://purl.obolibrary.org/obo/UBERON_0002051	epithelium of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0006632	musculo-phrenic artery	http://purl.obolibrary.org/obo/UBERON_0002057	phrenic artery		
http://purl.obolibrary.org/obo/UBERON_0001264	pancreas	http://purl.obolibrary.org/obo/UBERON_0002075	viscus		
http://purl.obolibrary.org/obo/UBERON_0005178	thoracic cavity element	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0017672	abdominal viscera	http://purl.obolibrary.org/obo/UBERON_0005172	abdomen element		
http://purl.obolibrary.org/obo/UBERON_0035820	peritoneal sac	http://purl.obolibrary.org/obo/UBERON_0005906	serous sac		
http://purl.obolibrary.org/obo/UBERON_0002078	right cardiac atrium	http://purl.obolibrary.org/obo/UBERON_0035554	right cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0002079	left cardiac atrium	http://purl.obolibrary.org/obo/UBERON_0035553	left cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0002080	heart right ventricle	http://purl.obolibrary.org/obo/UBERON_0035554	right cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0002084	heart left ventricle	http://purl.obolibrary.org/obo/UBERON_0035553	left cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0003561	forebrain dura mater	http://purl.obolibrary.org/obo/UBERON_0003548	forebrain meninges		
http://purl.obolibrary.org/obo/UBERON_0003562	midbrain dura mater	http://purl.obolibrary.org/obo/UBERON_0003288	meninx of midbrain		
http://purl.obolibrary.org/obo/UBERON_0003565	hindbrain dura mater	http://purl.obolibrary.org/obo/UBERON_0003291	meninx of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0010391	parametrium	http://purl.obolibrary.org/obo/UBERON_0003885	mesometrium		
http://purl.obolibrary.org/obo/UBERON_0003282	mesentery of heart	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0003284	mesentery of midgut	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0003393	mesentery of urinary system	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0003394	mesentery of hindgut	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0004854	gastrointestinal system mesentery	http://purl.obolibrary.org/obo/UBERON_0004782	gastrointestinal system serosa		
http://purl.obolibrary.org/obo/UBERON_0009483	mesentery of foregut-midgut junction	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0009664	gut mesentery	http://purl.obolibrary.org/obo/UBERON_0002095	mesentery		
http://purl.obolibrary.org/obo/UBERON_0002085	interatrial septum	http://purl.obolibrary.org/obo/UBERON_0002099	cardiac septum		
http://purl.obolibrary.org/obo/UBERON_0002094	interventricular septum	http://purl.obolibrary.org/obo/UBERON_0002099	cardiac septum		
http://purl.obolibrary.org/obo/UBERON_0004142	outflow tract septum	http://purl.obolibrary.org/obo/UBERON_0002099	cardiac septum		
http://purl.obolibrary.org/obo/UBERON_0005989	atrioventricular septum	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_8300001	right forelimb	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_8300002	left forelimb	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_8300003	right hindlimb	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_8300004	left hindlimb	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002135	mitral valve	http://purl.obolibrary.org/obo/UBERON_0002133	atrioventricular valve		
http://purl.obolibrary.org/obo/UBERON_0002134	tricuspid valve	http://purl.obolibrary.org/obo/UBERON_0005208	right atrium valve		
http://purl.obolibrary.org/obo/UBERON_0009129	right atrium endocardium	http://purl.obolibrary.org/obo/UBERON_0002166	endocardium of atrium		
http://purl.obolibrary.org/obo/UBERON_0034903	left atrium endocardium	http://purl.obolibrary.org/obo/UBERON_0002166	endocardium of atrium		
http://purl.obolibrary.org/obo/UBERON_0003536	right lung alveolar duct	http://purl.obolibrary.org/obo/UBERON_0002173	pulmonary alveolar duct		
http://purl.obolibrary.org/obo/UBERON_0003537	left lung alveolar duct	http://purl.obolibrary.org/obo/UBERON_0002173	pulmonary alveolar duct		
http://purl.obolibrary.org/obo/UBERON_0003404	lobar bronchus of right lung	http://purl.obolibrary.org/obo/UBERON_0002183	lobar bronchus		
http://purl.obolibrary.org/obo/UBERON_0003405	lobar bronchus of left lung	http://purl.obolibrary.org/obo/UBERON_0002183	lobar bronchus		
http://purl.obolibrary.org/obo/UBERON_8600000	lobular bronchiole	http://purl.obolibrary.org/obo/UBERON_0002186	bronchiole		
http://purl.obolibrary.org/obo/UBERON_0002187	terminal bronchiole	http://purl.obolibrary.org/obo/UBERON_0002186	bronchiole		
http://purl.obolibrary.org/obo/UBERON_0002188	respiratory bronchiole	http://purl.obolibrary.org/obo/UBERON_0002186	bronchiole		
http://purl.obolibrary.org/obo/UBERON_0003538	right lung bronchiole	http://purl.obolibrary.org/obo/UBERON_0002186	bronchiole		
http://purl.obolibrary.org/obo/UBERON_0003539	left lung bronchiole	http://purl.obolibrary.org/obo/UBERON_0002186	bronchiole		
http://purl.obolibrary.org/obo/UBERON_0003540	right lung terminal bronchiole	http://purl.obolibrary.org/obo/UBERON_0003538	right lung bronchiole		
http://purl.obolibrary.org/obo/UBERON_0003541	left lung terminal bronchiole	http://purl.obolibrary.org/obo/UBERON_0003539	left lung bronchiole		
http://purl.obolibrary.org/obo/UBERON_0003542	right lung respiratory bronchiole	http://purl.obolibrary.org/obo/UBERON_0003538	right lung bronchiole		
http://purl.obolibrary.org/obo/UBERON_0003543	left lung respiratory bronchiole	http://purl.obolibrary.org/obo/UBERON_0003539	left lung bronchiole		
http://purl.obolibrary.org/obo/UBERON_0014455	subcutaneous abdominal adipose tissue	http://purl.obolibrary.org/obo/UBERON_0007808	adipose tissue of abdominal region		
http://purl.obolibrary.org/obo/UBERON_0002203	vasculature of eye	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0011362	cranial blood vasculature	http://purl.obolibrary.org/obo/UBERON_0004537	blood vasculature		
http://purl.obolibrary.org/obo/UBERON_0011363	cranial lymph vasculature	http://purl.obolibrary.org/obo/UBERON_0004536	lymph vasculature		
http://purl.obolibrary.org/obo/UBERON_0036301	vasculature of spleen	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0000102	lung vasculature	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0006544	kidney vasculature	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0006877	vasculature of liver	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0012239	urinary bladder vasculature	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0018674	heart vasculature	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0001776	optic choroid	http://purl.obolibrary.org/obo/UBERON_0002203	vasculature of eye		
http://purl.obolibrary.org/obo/UBERON_0004118	vasculature of iris	http://purl.obolibrary.org/obo/UBERON_0002203	vasculature of eye		
http://purl.obolibrary.org/obo/UBERON_0004864	vasculature of retina	http://purl.obolibrary.org/obo/UBERON_0036302	vasculature of central nervous system plus retina		
http://purl.obolibrary.org/obo/UBERON_0010366	conjunctival vasculature	http://purl.obolibrary.org/obo/UBERON_0002203	vasculature of eye		
http://purl.obolibrary.org/obo/UBERON_0002210	syndesmosis	http://purl.obolibrary.org/obo/UBERON_0002213	cartilaginous joint		
http://purl.obolibrary.org/obo/UBERON_0002215	synchondrosis	http://purl.obolibrary.org/obo/UBERON_0002213	cartilaginous joint		
http://purl.obolibrary.org/obo/UBERON_0002216	symphysis	http://purl.obolibrary.org/obo/UBERON_0002213	cartilaginous joint		
http://purl.obolibrary.org/obo/UBERON_0002221	fontanelle	http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture		
http://purl.obolibrary.org/obo/UBERON_0009198	craniofacial suture	http://purl.obolibrary.org/obo/UBERON_0002209	fibrous joint		
http://purl.obolibrary.org/obo/UBERON_0011112	tibiofibular joint	http://purl.obolibrary.org/obo/UBERON_0003840	hindlimb joint		
http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0009623	spinal nerve root	http://purl.obolibrary.org/obo/UBERON_0002211	nerve root		
http://purl.obolibrary.org/obo/UBERON_0011213	root of vagus nerve	http://purl.obolibrary.org/obo/UBERON_0002211	nerve root		
http://purl.obolibrary.org/obo/UBERON_0014615	accessory nerve root	http://purl.obolibrary.org/obo/UBERON_0002211	nerve root		
http://purl.obolibrary.org/obo/UBERON_0019311	root of olfactory nerve	http://purl.obolibrary.org/obo/UBERON_0002211	nerve root		
http://purl.obolibrary.org/obo/UBERON_0001725	cranial synchondrosis	http://purl.obolibrary.org/obo/UBERON_0002215	synchondrosis		
http://purl.obolibrary.org/obo/UBERON_0001468	intervertebral joint	http://purl.obolibrary.org/obo/UBERON_0002216	symphysis		
http://purl.obolibrary.org/obo/UBERON_0006606	mandibular symphysis	http://purl.obolibrary.org/obo/UBERON_0002216	symphysis		
http://purl.obolibrary.org/obo/UBERON_0000220	atlanto-occipital joint	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001490	elbow joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0009559	metacarpal/tarsal-phalangeal joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0011107	synovial joint of pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0008114	joint of girdle		
http://purl.obolibrary.org/obo/UBERON_0011108	synovial joint of pectoral girdle	http://purl.obolibrary.org/obo/UBERON_0008114	joint of girdle		
http://purl.obolibrary.org/obo/UBERON_0011110	humeroulnar joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0011120	laryngeal joint	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint	http://purl.obolibrary.org/obo/UBERON_0003657	limb joint		
http://purl.obolibrary.org/obo/UBERON_0011171	joint connecting upper and lower jaws	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0036248	joint of auditory ossicle	http://purl.obolibrary.org/obo/UBERON_0002217	synovial joint		
http://purl.obolibrary.org/obo/UBERON_0008822	posterior mediastinum	http://purl.obolibrary.org/obo/UBERON_0002224	thoracic cavity		
http://purl.obolibrary.org/obo/UBERON_0008819	inferior mediastinum	http://purl.obolibrary.org/obo/UBERON_0002224	thoracic cavity		
http://purl.obolibrary.org/obo/UBERON_0002237	true rib	http://purl.obolibrary.org/obo/UBERON_0002228	rib		
http://purl.obolibrary.org/obo/UBERON_0018144	cervical rib	http://purl.obolibrary.org/obo/UBERON_0003458	neck bone		
http://purl.obolibrary.org/obo/UBERON_0018145	lumbar rib	http://purl.obolibrary.org/obo/UBERON_0002228	rib		
http://purl.obolibrary.org/obo/UBERON_0004328	proximal phalanx of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0014502	proximal phalanx of digit 2		
http://purl.obolibrary.org/obo/UBERON_0004329	proximal phalanx of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0014503	proximal phalanx of digit 3		
http://purl.obolibrary.org/obo/UBERON_0004330	proximal phalanx of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0014504	proximal phalanx of digit 4		
http://purl.obolibrary.org/obo/UBERON_0004331	proximal phalanx of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0014505	proximal phalanx of digit 5		
http://purl.obolibrary.org/obo/UBERON_0004338	proximal phalanx of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0014501	proximal phalanx of digit 1		
http://purl.obolibrary.org/obo/UBERON_0009020	left uterine horn	http://purl.obolibrary.org/obo/UBERON_0002247	uterine horn		
http://purl.obolibrary.org/obo/UBERON_0009022	right uterine horn	http://purl.obolibrary.org/obo/UBERON_0002247	uterine horn		
http://purl.obolibrary.org/obo/UBERON_0014610	thoracic spinal cord ventral horn	http://purl.obolibrary.org/obo/UBERON_0002257	ventral horn of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0014621	cervical spinal cord ventral horn	http://purl.obolibrary.org/obo/UBERON_0002257	ventral horn of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0030276	lumbar spinal cord ventral horn	http://purl.obolibrary.org/obo/UBERON_0002257	ventral horn of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0032748	sacral spinal cord ventral horn	http://purl.obolibrary.org/obo/UBERON_0002257	ventral horn of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0034730	olfactory tract linking bulb to ipsilateral dorsal telencephalon	http://purl.obolibrary.org/obo/UBERON_0002265	olfactory tract		
http://purl.obolibrary.org/obo/UBERON_0000004	nose	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005685	midgut dorsal mesentery	http://purl.obolibrary.org/obo/UBERON_0002296	dorsal mesentery		
http://purl.obolibrary.org/obo/UBERON_0005686	caecum dorsal mesentery	http://purl.obolibrary.org/obo/UBERON_0002296	dorsal mesentery		
http://purl.obolibrary.org/obo/UBERON_0004861	right lung alveolus	http://purl.obolibrary.org/obo/UBERON_0002299	alveolus of lung		
http://purl.obolibrary.org/obo/UBERON_0004862	left lung alveolus	http://purl.obolibrary.org/obo/UBERON_0002299	alveolus of lung		
http://purl.obolibrary.org/obo/UBERON_0002928	dentate gyrus polymorphic layer	http://purl.obolibrary.org/obo/UBERON_0002304	layer of dentate gyrus		
http://purl.obolibrary.org/obo/UBERON_0004679	dentate gyrus molecular layer	http://purl.obolibrary.org/obo/UBERON_0002304	layer of dentate gyrus		
http://purl.obolibrary.org/obo/UBERON_0005381	dentate gyrus granule cell layer	http://purl.obolibrary.org/obo/UBERON_0002304	layer of dentate gyrus		
http://purl.obolibrary.org/obo/UBERON_0005367	hippocampus granule cell layer	http://purl.obolibrary.org/obo/UBERON_0002305	layer of hippocampus		
http://purl.obolibrary.org/obo/UBERON_0000126	cranial nerve nucleus	http://purl.obolibrary.org/obo/UBERON_0002308	nucleus of brain		
http://purl.obolibrary.org/obo/UBERON_0006331	brainstem nucleus	http://purl.obolibrary.org/obo/UBERON_0002308	nucleus of brain		
http://purl.obolibrary.org/obo/UBERON_0006569	diencephalic nucleus	http://purl.obolibrary.org/obo/UBERON_0002308	nucleus of brain		
http://purl.obolibrary.org/obo/UBERON_0009661	midbrain nucleus	http://purl.obolibrary.org/obo/UBERON_0002308	nucleus of brain		
http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus	http://purl.obolibrary.org/obo/UBERON_0002308	nucleus of brain		
http://purl.obolibrary.org/obo/UBERON_0009663	telencephalic nucleus	http://purl.obolibrary.org/obo/UBERON_0002308	nucleus of brain		
http://purl.obolibrary.org/obo/UBERON_0014613	cervical spinal cord gray matter	http://purl.obolibrary.org/obo/UBERON_0002315	gray matter of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0014636	thoracic spinal cord gray matter	http://purl.obolibrary.org/obo/UBERON_0002315	gray matter of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0029503	sacral spinal cord gray matter	http://purl.obolibrary.org/obo/UBERON_0002315	gray matter of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0029636	lumbar spinal cord gray matter	http://purl.obolibrary.org/obo/UBERON_0002315	gray matter of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0002318	white matter of spinal cord	http://purl.obolibrary.org/obo/UBERON_0002316	white matter		
http://purl.obolibrary.org/obo/UBERON_0003544	brain white matter	http://purl.obolibrary.org/obo/UBERON_0002316	white matter		
http://purl.obolibrary.org/obo/UBERON_0014614	cervical spinal cord white matter	http://purl.obolibrary.org/obo/UBERON_0002318	white matter of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0014637	thoracic spinal cord white matter	http://purl.obolibrary.org/obo/UBERON_0002318	white matter of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0026246	sacral spinal cord white matter	http://purl.obolibrary.org/obo/UBERON_0002318	white matter of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0026386	lumbar spinal cord white matter	http://purl.obolibrary.org/obo/UBERON_0002318	white matter of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0001074	pericardial cavity	http://purl.obolibrary.org/obo/UBERON_0035809	serous cavity		
http://purl.obolibrary.org/obo/UBERON_0008242	lower back muscle	http://purl.obolibrary.org/obo/UBERON_0003833	abdominal segment muscle		
http://purl.obolibrary.org/obo/UBERON_0008243	upper back muscle	http://purl.obolibrary.org/obo/UBERON_0003830	thoracic segment muscle		
http://purl.obolibrary.org/obo/UBERON_0016510	epithelium of male urethra	http://purl.obolibrary.org/obo/UBERON_0002325	epithelium of urethra		
http://purl.obolibrary.org/obo/UBERON_0016520	epithelium of female urethra	http://purl.obolibrary.org/obo/UBERON_0002325	epithelium of urethra		
http://purl.obolibrary.org/obo/UBERON_0016516	lamina propria of prostatic urethra	http://purl.obolibrary.org/obo/UBERON_0002326	lamina propria of urethra		
http://purl.obolibrary.org/obo/UBERON_0036242	post-embryonic notochord	http://purl.obolibrary.org/obo/UBERON_0002328	notochord		
http://purl.obolibrary.org/obo/UBERON_0005598	trunk somite	http://purl.obolibrary.org/obo/UBERON_0002329	somite		
http://purl.obolibrary.org/obo/UBERON_0009621	tail somite	http://purl.obolibrary.org/obo/UBERON_0002329	somite		
http://purl.obolibrary.org/obo/UBERON_0015794	left lung lobar bronchus epithelium	http://purl.obolibrary.org/obo/UBERON_0003365	epithelium of left lung		
http://purl.obolibrary.org/obo/UBERON_0015795	right lung lobar bronchus epitheium	http://purl.obolibrary.org/obo/UBERON_0003364	epithelium of right lung		
http://purl.obolibrary.org/obo/UBERON_0003849	mesencephalic neural crest	http://purl.obolibrary.org/obo/UBERON_0003099	cranial neural crest		
http://purl.obolibrary.org/obo/UBERON_0003850	telencephalon neural crest	http://purl.obolibrary.org/obo/UBERON_0002342	neural crest		
http://purl.obolibrary.org/obo/UBERON_0003851	diencephalon neural crest	http://purl.obolibrary.org/obo/UBERON_0002342	neural crest		
http://purl.obolibrary.org/obo/UBERON_0003852	rhombencephalon neural crest	http://purl.obolibrary.org/obo/UBERON_0003099	cranial neural crest		
http://purl.obolibrary.org/obo/UBERON_0003853	spinal cord neural crest	http://purl.obolibrary.org/obo/UBERON_0002342	neural crest		
http://purl.obolibrary.org/obo/UBERON_0004626	thoracic vertebra 1	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004627	thoracic vertebra 2	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004628	thoracic vertebra 3	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004629	thoracic vertebra 4	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004630	thoracic vertebra 5	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004631	thoracic vertebra 6	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004632	thoracic vertebra 7	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004633	thoracic vertebra 9	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004634	thoracic vertebra 10	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004635	thoracic vertebra 11	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0004636	thoracic vertebra 12	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0011050	thoracic vertebra 8	http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra		
http://purl.obolibrary.org/obo/UBERON_0000391	leptomeninx	http://purl.obolibrary.org/obo/UBERON_0002360	meninx		
http://purl.obolibrary.org/obo/UBERON_0003292	meninx of spinal cord	http://purl.obolibrary.org/obo/UBERON_0005174	dorsal region element		
http://purl.obolibrary.org/obo/UBERON_0002363	dura mater	http://purl.obolibrary.org/obo/UBERON_0002360	meninx		
http://purl.obolibrary.org/obo/UBERON_0003547	brain meninx	http://purl.obolibrary.org/obo/UBERON_0002360	meninx		
http://purl.obolibrary.org/obo/UBERON_0003549	brain pia mater	http://purl.obolibrary.org/obo/UBERON_0003547	brain meninx		
http://purl.obolibrary.org/obo/UBERON_0003556	forebrain arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0003548	forebrain meninges		
http://purl.obolibrary.org/obo/UBERON_0003557	midbrain arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0003288	meninx of midbrain		
http://purl.obolibrary.org/obo/UBERON_0003559	hindbrain arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0003291	meninx of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0005397	brain arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0003547	brain meninx		
http://purl.obolibrary.org/obo/UBERON_0002092	brain dura mater	http://purl.obolibrary.org/obo/UBERON_0003547	brain meninx		
http://purl.obolibrary.org/obo/UBERON_0001817	lacrimal gland	http://purl.obolibrary.org/obo/UBERON_0015154	lateral gland of orbital region		
http://purl.obolibrary.org/obo/UBERON_0008974	apocrine gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0001820	sweat gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0002107	liver	http://purl.obolibrary.org/obo/UBERON_0006925	digestive system gland		
http://purl.obolibrary.org/obo/UBERON_0000325	gastric gland	http://purl.obolibrary.org/obo/UBERON_0003294	gland of foregut		
http://purl.obolibrary.org/obo/UBERON_0000409	serous gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0000414	mucous gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0001911	mammary gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0009708	dorsal pancreas	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0009709	ventral pancreas	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0010047	oral gland	http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0010243	merocrine gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0011252	scent gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0012278	gland of nasal mucosa	http://purl.obolibrary.org/obo/UBERON_0036225	respiratory system gland		
http://purl.obolibrary.org/obo/UBERON_0012344	holocrine gland	http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system	http://purl.obolibrary.org/obo/UBERON_0003297	gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0003645	metacarpal bone of digit 1	http://purl.obolibrary.org/obo/UBERON_0015043	manual digit 1 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003646	metacarpal bone of digit 2	http://purl.obolibrary.org/obo/UBERON_0015044	manual digit 2 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003647	metacarpal bone of digit 3	http://purl.obolibrary.org/obo/UBERON_0015045	manual digit 3 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003648	metacarpal bone of digit 4	http://purl.obolibrary.org/obo/UBERON_0015046	manual digit 4 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003649	metacarpal bone of digit 5	http://purl.obolibrary.org/obo/UBERON_0015047	manual digit 5 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0013587	fused metacarpal bones 3 and 4	http://purl.obolibrary.org/obo/UBERON_0013586	fused metapodial bones 3 and 4		
http://purl.obolibrary.org/obo/UBERON_0004113	muscle of auditory ossicle	http://purl.obolibrary.org/obo/UBERON_0002376	cranial muscle		
http://purl.obolibrary.org/obo/UBERON_0011648	jaw muscle	http://purl.obolibrary.org/obo/UBERON_0002376	cranial muscle		
http://purl.obolibrary.org/obo/UBERON_0015789	cranial or facial muscle	http://purl.obolibrary.org/obo/UBERON_0002376	cranial muscle		
http://purl.obolibrary.org/obo/UBERON_3000224	hyobranchial muscle	http://purl.obolibrary.org/obo/UBERON_0002376	cranial muscle		
http://purl.obolibrary.org/obo/UBERON_0001568	muscle of larynx	http://purl.obolibrary.org/obo/UBERON_0003831	respiratory system muscle		
http://purl.obolibrary.org/obo/UBERON_0010949	sternooccipital muscle	http://purl.obolibrary.org/obo/UBERON_0002377	muscle of neck		
http://purl.obolibrary.org/obo/UBERON_0002461	anterior abdominal wall muscle	http://purl.obolibrary.org/obo/UBERON_0002378	muscle of abdomen		
http://purl.obolibrary.org/obo/UBERON_0035083	transverse process-bearing vertebra	http://purl.obolibrary.org/obo/UBERON_0002412	vertebra		
http://purl.obolibrary.org/obo/UBERON_0001092	vertebral bone 1	http://purl.obolibrary.org/obo/UBERON_0002412	vertebra		
http://purl.obolibrary.org/obo/UBERON_0001093	vertebral bone 2	http://purl.obolibrary.org/obo/UBERON_0002412	vertebra		
http://purl.obolibrary.org/obo/UBERON_0001094	sacral vertebra	http://purl.obolibrary.org/obo/UBERON_0015010	sacral vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001095	caudal vertebra	http://purl.obolibrary.org/obo/UBERON_0018142	caudal vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002347	thoracic vertebra	http://purl.obolibrary.org/obo/UBERON_0015008	thoracic vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002414	lumbar vertebra	http://purl.obolibrary.org/obo/UBERON_0015009	lumbar vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0004451	trunk or cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0002412	vertebra		
http://purl.obolibrary.org/obo/UBERON_0004612	mammalian cervical vertebra 3	http://purl.obolibrary.org/obo/UBERON_0002413	cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0004613	mammalian cervical vertebra 4	http://purl.obolibrary.org/obo/UBERON_0002413	cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0004614	mammalian cervical vertebra 5	http://purl.obolibrary.org/obo/UBERON_0002413	cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0004615	mammalian cervical vertebra 6	http://purl.obolibrary.org/obo/UBERON_0002413	cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0004616	mammalian cervical vertebra 7	http://purl.obolibrary.org/obo/UBERON_0002413	cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0004617	lumbar vertebra 1	http://purl.obolibrary.org/obo/UBERON_0002414	lumbar vertebra		
http://purl.obolibrary.org/obo/UBERON_0004618	lumbar vertebra 2	http://purl.obolibrary.org/obo/UBERON_0002414	lumbar vertebra		
http://purl.obolibrary.org/obo/UBERON_0004619	lumbar vertebra 3	http://purl.obolibrary.org/obo/UBERON_0002414	lumbar vertebra		
http://purl.obolibrary.org/obo/UBERON_0004620	lumbar vertebra 4	http://purl.obolibrary.org/obo/UBERON_0002414	lumbar vertebra		
http://purl.obolibrary.org/obo/UBERON_0004621	lumbar vertebra 5	http://purl.obolibrary.org/obo/UBERON_0002414	lumbar vertebra		
http://purl.obolibrary.org/obo/UBERON_0007812	post-anal tail	http://purl.obolibrary.org/obo/UBERON_0002415	tail		
http://purl.obolibrary.org/obo/UBERON_0000398	cartilage tissue of sternum	http://purl.obolibrary.org/obo/UBERON_0003837	thoracic segment connective tissue		
http://purl.obolibrary.org/obo/UBERON_0001823	nasal cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0001994	hyaline cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0002418	cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0001995	fibrocartilage	http://purl.obolibrary.org/obo/UBERON_0002418	cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0007389	paired limb/fin cartilage	http://purl.obolibrary.org/obo/UBERON_0002418	cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0011589	non-mineralized cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0002418	cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0003605	eye skin gland	http://purl.obolibrary.org/obo/UBERON_0015152	gland of ocular region		
http://purl.obolibrary.org/obo/UBERON_0007771	epidermis gland	http://purl.obolibrary.org/obo/UBERON_0002419	skin gland		
http://purl.obolibrary.org/obo/UBERON_0016852	skin scent gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0001949	gingival epithelium	http://purl.obolibrary.org/obo/UBERON_0035037	jaw epithelium		
http://purl.obolibrary.org/obo/UBERON_0006919	tongue squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006914	squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0008420	buccal epithelium	http://purl.obolibrary.org/obo/UBERON_0002424	oral epithelium		
http://purl.obolibrary.org/obo/UBERON_0009671	nasal fin	http://purl.obolibrary.org/obo/UBERON_0005384	nasal cavity epithelium		
http://purl.obolibrary.org/obo/UBERON_0014453	gustatory epithelium of palate	http://purl.obolibrary.org/obo/UBERON_0002926	gustatory epithelium		
http://purl.obolibrary.org/obo/UBERON_0019206	tongue papilla epithelium	http://purl.obolibrary.org/obo/UBERON_0003357	epithelium of tongue		
http://purl.obolibrary.org/obo/UBERON_0001517	skin of elbow	http://purl.obolibrary.org/obo/UBERON_0002427	arm skin		
http://purl.obolibrary.org/obo/UBERON_0003403	skin of forearm	http://purl.obolibrary.org/obo/UBERON_0002427	arm skin		
http://purl.obolibrary.org/obo/UBERON_0004263	upper arm skin	http://purl.obolibrary.org/obo/UBERON_0002427	arm skin		
http://purl.obolibrary.org/obo/UBERON_0003464	hindlimb bone	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0008962	forelimb bone	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0011250	autopod bone	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0016527	white matter of cerebral lobe	http://purl.obolibrary.org/obo/UBERON_0002437	cerebral hemisphere white matter		
http://purl.obolibrary.org/obo/UBERON_0012247	cervical gland	http://purl.obolibrary.org/obo/UBERON_0002451	endometrial gland		
http://purl.obolibrary.org/obo/UBERON_0001535	vertebral artery	http://purl.obolibrary.org/obo/UBERON_0002458	spinal artery		
http://purl.obolibrary.org/obo/UBERON_0001318	inferior vesical vein	http://purl.obolibrary.org/obo/UBERON_0002460	vesical vein		
http://purl.obolibrary.org/obo/UBERON_0006355	superior vesical vein	http://purl.obolibrary.org/obo/UBERON_0002460	vesical vein		
http://purl.obolibrary.org/obo/UBERON_0035032	abdominal oblique muscle	http://purl.obolibrary.org/obo/UBERON_0002461	anterior abdominal wall muscle		
http://purl.obolibrary.org/obo/UBERON_0001221	transversus abdominis muscle	http://purl.obolibrary.org/obo/UBERON_0002461	anterior abdominal wall muscle		
http://purl.obolibrary.org/obo/UBERON_0002387	pes	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0002398	manus	http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment		
http://purl.obolibrary.org/obo/UBERON_0002386	forelimb zeugopod	http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment		
http://purl.obolibrary.org/obo/UBERON_0003823	hindlimb zeugopod	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0000376	hindlimb stylopod	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0003822	forelimb stylopod	http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment		
http://purl.obolibrary.org/obo/UBERON_0002336	corpus callosum	http://purl.obolibrary.org/obo/UBERON_0005340	dorsal telencephalic commissure		
http://purl.obolibrary.org/obo/UBERON_0008883	osteoid	http://purl.obolibrary.org/obo/UBERON_0002481	bone tissue		
http://purl.obolibrary.org/obo/UBERON_0004763	endochondral bone tissue	http://purl.obolibrary.org/obo/UBERON_0002481	bone tissue		
http://purl.obolibrary.org/obo/UBERON_0004764	intramembranous bone tissue	http://purl.obolibrary.org/obo/UBERON_0002481	bone tissue		
http://purl.obolibrary.org/obo/UBERON_0005808	bone tissue of long bone	http://purl.obolibrary.org/obo/UBERON_0002481	bone tissue		
http://purl.obolibrary.org/obo/UBERON_0006431	xiphoid process bone	http://purl.obolibrary.org/obo/UBERON_0003837	thoracic segment connective tissue		
http://purl.obolibrary.org/obo/UBERON_0007355	bony part of pharyngotympanic tube	http://purl.obolibrary.org/obo/UBERON_0003566	head connective tissue		
http://purl.obolibrary.org/obo/UBERON_4000115	mineralized bone tissue	http://purl.obolibrary.org/obo/UBERON_4000013	mineralized skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_7500075	left zygomatic arch	http://purl.obolibrary.org/obo/UBERON_0002500	zygomatic arch		
http://purl.obolibrary.org/obo/UBERON_7500076	right zygomatic arch	http://purl.obolibrary.org/obo/UBERON_0002500	zygomatic arch		
http://purl.obolibrary.org/obo/UBERON_0002527	pancreatic lymph node	http://purl.obolibrary.org/obo/UBERON_0002507	abdominal lymph node		
http://purl.obolibrary.org/obo/UBERON_0015860	visceral abdominal lymph node	http://purl.obolibrary.org/obo/UBERON_0002507	abdominal lymph node		
http://purl.obolibrary.org/obo/UBERON_0001679	ethmoid bone	http://purl.obolibrary.org/obo/UBERON_0011164	neurocranium bone		
http://purl.obolibrary.org/obo/UBERON_0001677	sphenoid bone	http://purl.obolibrary.org/obo/UBERON_0015060	sphenoid endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001273	ilium	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001274	ischium	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001275	pubis	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002208	sternebra	http://purl.obolibrary.org/obo/UBERON_0003827	thoracic segment bone		
http://purl.obolibrary.org/obo/UBERON_0002228	rib	http://purl.obolibrary.org/obo/UBERON_0015019	rib endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002412	vertebra	http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element		
http://purl.obolibrary.org/obo/UBERON_0002428	limb bone	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002478	orbitosphenoid	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0003861	neural arch	http://purl.obolibrary.org/obo/UBERON_0010358	arch of centrum of vertebra		
http://purl.obolibrary.org/obo/UBERON_0005411	bony otic capsule	http://purl.obolibrary.org/obo/UBERON_0011164	neurocranium bone		
http://purl.obolibrary.org/obo/UBERON_0006849	scapula	http://purl.obolibrary.org/obo/UBERON_0015057	scapula endochondral element		
http://purl.obolibrary.org/obo/UBERON_0009639	body of sphenoid	http://purl.obolibrary.org/obo/UBERON_0011164	neurocranium bone		
http://purl.obolibrary.org/obo/UBERON_2001364	hemal spine	http://purl.obolibrary.org/obo/UBERON_0004247	bone of dorsum		
http://purl.obolibrary.org/obo/UBERON_0001684	mandible	http://purl.obolibrary.org/obo/UBERON_0004742	dentary		
http://purl.obolibrary.org/obo/UBERON_0000209	tetrapod frontal bone	http://purl.obolibrary.org/obo/UBERON_0011164	neurocranium bone		
http://purl.obolibrary.org/obo/UBERON_0002244	premaxilla	http://purl.obolibrary.org/obo/UBERON_0011597	bone of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0002397	maxilla	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0013687	pericranium	http://purl.obolibrary.org/obo/UBERON_0002515	periosteum		
http://purl.obolibrary.org/obo/UBERON_0016896	periosteum of long bone	http://purl.obolibrary.org/obo/UBERON_0002515	periosteum		
http://purl.obolibrary.org/obo/UBERON_0003611	respiratory system elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003570	respiratory system connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003613	cardiovascular system elastic tissue	http://purl.obolibrary.org/obo/UBERON_0002521	elastic tissue		
http://purl.obolibrary.org/obo/UBERON_0003967	cutaneous elastic tissue	http://purl.obolibrary.org/obo/UBERON_0002521	elastic tissue		
http://purl.obolibrary.org/obo/UBERON_0003618	aorta tunica media	http://purl.obolibrary.org/obo/UBERON_0002522	tunica media		
http://purl.obolibrary.org/obo/UBERON_0007239	tunica media of artery	http://purl.obolibrary.org/obo/UBERON_0002522	tunica media		
http://purl.obolibrary.org/obo/UBERON_0007243	tunica media of vein	http://purl.obolibrary.org/obo/UBERON_0002522	tunica media		
http://purl.obolibrary.org/obo/UBERON_0002165	endocardium	http://purl.obolibrary.org/obo/UBERON_0005983	heart layer		
http://purl.obolibrary.org/obo/UBERON_0003619	aorta tunica intima	http://purl.obolibrary.org/obo/UBERON_0004797	blood vessel layer		
http://purl.obolibrary.org/obo/UBERON_0005740	tunica intima of artery	http://purl.obolibrary.org/obo/UBERON_0004797	blood vessel layer		
http://purl.obolibrary.org/obo/UBERON_0007242	tunica intima of vein	http://purl.obolibrary.org/obo/UBERON_0004797	blood vessel layer		
http://purl.obolibrary.org/obo/UBERON_0001461	elbow	http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment		
http://purl.obolibrary.org/obo/UBERON_0002470	autopod region	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0002471	zeugopod	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0002472	stylopod	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0006716	mesopodium region	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0008837	palmar/plantar part of autopod	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0009551	distal segment of digit	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0009877	metapodium region	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0012139	segment of autopod	http://purl.obolibrary.org/obo/UBERON_0002529	limb segment		
http://purl.obolibrary.org/obo/UBERON_0002368	endocrine gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0002365	exocrine gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0003296	gland of diencephalon	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0003297	gland of integumental system	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0003937	reproductive gland	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004758	salt gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0004859	eye gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0005058	hemolymphoid system gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0005250	stomatodeum gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0013645	gular gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0015152	gland of ocular region	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0036225	respiratory system gland	http://purl.obolibrary.org/obo/UBERON_0002530	gland		
http://purl.obolibrary.org/obo/UBERON_0008780	inner cell mass derived epiblast	http://purl.obolibrary.org/obo/UBERON_0002532	epiblast (generic)		
http://purl.obolibrary.org/obo/UBERON_0000963	head sensillum	http://purl.obolibrary.org/obo/UBERON_0002536	arthropod sensillum		
http://purl.obolibrary.org/obo/UBERON_6007240	insect embryonic/larval sensillum	http://purl.obolibrary.org/obo/UBERON_6002639	insect larval sense organ		
http://purl.obolibrary.org/obo/UBERON_0003066	pharyngeal arch 2	http://purl.obolibrary.org/obo/UBERON_0002539	pharyngeal arch		
http://purl.obolibrary.org/obo/UBERON_0003114	pharyngeal arch 3	http://purl.obolibrary.org/obo/UBERON_0002539	pharyngeal arch		
http://purl.obolibrary.org/obo/UBERON_0003115	pharyngeal arch 4	http://purl.obolibrary.org/obo/UBERON_0002539	pharyngeal arch		
http://purl.obolibrary.org/obo/UBERON_0003116	pharyngeal arch 5	http://purl.obolibrary.org/obo/UBERON_0002539	pharyngeal arch		
http://purl.obolibrary.org/obo/UBERON_0003117	pharyngeal arch 6	http://purl.obolibrary.org/obo/UBERON_0002539	pharyngeal arch		
http://purl.obolibrary.org/obo/UBERON_0004362	pharyngeal arch 1	http://purl.obolibrary.org/obo/UBERON_0002539	pharyngeal arch		
http://purl.obolibrary.org/obo/UBERON_0008896	post-hyoid pharyngeal arch	http://purl.obolibrary.org/obo/UBERON_0002539	pharyngeal arch		
http://purl.obolibrary.org/obo/UBERON_0002389	manual digit	http://purl.obolibrary.org/obo/UBERON_0002544	digit		
http://purl.obolibrary.org/obo/UBERON_0001466	pedal digit	http://purl.obolibrary.org/obo/UBERON_0002544	digit		
http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5	http://purl.obolibrary.org/obo/UBERON_0002544	digit		
http://purl.obolibrary.org/obo/UBERON_0019222	digit 2, 3 or 4	http://purl.obolibrary.org/obo/UBERON_0002544	digit		
http://purl.obolibrary.org/obo/UBERON_0003073	lens placode	http://purl.obolibrary.org/obo/UBERON_0011814	non-neurogenic ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0009122	adenohypophyseal placode	http://purl.obolibrary.org/obo/UBERON_0011814	non-neurogenic ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0009955	neurogenic placode	http://purl.obolibrary.org/obo/UBERON_0002546	cranial placode		
http://purl.obolibrary.org/obo/UBERON_0009850	nematode larva	http://purl.obolibrary.org/obo/UBERON_0002548	larva		
http://purl.obolibrary.org/obo/UBERON_0000402	nasal vestibule	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0000167	oral cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0001707	nasal cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0001825	paranasal sinus	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0003728	mediastinum	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0002323	coelemic cavity lumen	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0002558	organ cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0004114	tympanic cavity	http://purl.obolibrary.org/obo/UBERON_0010064	open anatomical space		
http://purl.obolibrary.org/obo/UBERON_0004704	bone fossa	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0004867	orbital cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0005251	yolk sac cavity	http://purl.obolibrary.org/obo/UBERON_0012466	extraembryonic cavity		
http://purl.obolibrary.org/obo/UBERON_0005606	hyaloid cavity	http://purl.obolibrary.org/obo/UBERON_0012467	enclosed anatomical space		
http://purl.obolibrary.org/obo/UBERON_0005625	tubotympanic recess lumen	http://purl.obolibrary.org/obo/UBERON_0007473	lumen of epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0006272	oronasal cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0007617	synovial cavity of joint	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0008203	pelvic cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0009742	proamniotic cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0011565	lumen of gastrointestinal system	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0012054	myocoele	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0013411	cranial cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0013526	otocyst lumen	http://purl.obolibrary.org/obo/UBERON_0007473	lumen of epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0013761	cervical cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0035763	cavity of cardiac chamber	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0035809	serous cavity	http://purl.obolibrary.org/obo/UBERON_0002553	anatomical cavity		
http://purl.obolibrary.org/obo/UBERON_0002561	lumen of central nervous system	http://purl.obolibrary.org/obo/UBERON_0002558	organ cavity		
http://purl.obolibrary.org/obo/UBERON_0009692	lumen of pharyngotympanic tube	http://purl.obolibrary.org/obo/UBERON_0005082	tube lumen		
http://purl.obolibrary.org/obo/UBERON_0010527	cavity of bone organ	http://purl.obolibrary.org/obo/UBERON_0002558	organ cavity		
http://purl.obolibrary.org/obo/UBERON_0011894	lumen of vagina	http://purl.obolibrary.org/obo/UBERON_0002558	organ cavity		
http://purl.obolibrary.org/obo/UBERON_0013769	uterine lumen	http://purl.obolibrary.org/obo/UBERON_0002558	organ cavity		
http://purl.obolibrary.org/obo/UBERON_0002804	left limbic lobe	http://purl.obolibrary.org/obo/UBERON_0002600	limbic lobe		
http://purl.obolibrary.org/obo/UBERON_0002805	right limbic lobe	http://purl.obolibrary.org/obo/UBERON_0002600	limbic lobe		
http://purl.obolibrary.org/obo/UBERON_0001893	telencephalon	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001894	diencephalon	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002037	cerebellum	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002434	pituitary stalk	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0014908	cerebellopontine angle	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0035014	functional part of brain	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0000203	pallium	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0000988	pons	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001384	primary motor cortex	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001885	dentate gyrus of hippocampal formation	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001890	forebrain	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001891	midbrain	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0001897	dorsal plus ventral thalamus	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001898	hypothalamus	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001899	epithalamus	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001943	midbrain tegmentum	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001950	neocortex	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0001954	Ammon's horn	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002028	hindbrain	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002191	subiculum	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002264	olfactory bulb	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002275	reticular formation	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002421	hippocampal formation	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002743	basal forebrain	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0002749	regional part of cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0004684	raphe nuclei	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0005408	circumventricular organ	http://purl.obolibrary.org/obo/UBERON_0002616	regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0004720	cerebellar vermis	http://purl.obolibrary.org/obo/UBERON_0002749	regional part of cerebellar cortex		
http://purl.obolibrary.org/obo/UBERON_0014452	gustatory epithelium of tongue	http://purl.obolibrary.org/obo/UBERON_0003357	epithelium of tongue		
http://purl.obolibrary.org/obo/UBERON_0002099	cardiac septum	http://purl.obolibrary.org/obo/UBERON_0003037	septum		
http://purl.obolibrary.org/obo/UBERON_0003218	ovary septum	http://purl.obolibrary.org/obo/UBERON_0003037	septum		
http://purl.obolibrary.org/obo/UBERON_0004893	interalveolar septum	http://purl.obolibrary.org/obo/UBERON_0003037	septum		
http://purl.obolibrary.org/obo/UBERON_0005760	urorectal septum	http://purl.obolibrary.org/obo/UBERON_0003037	septum		
http://purl.obolibrary.org/obo/UBERON_0006211	buccopharyngeal membrane	http://purl.obolibrary.org/obo/UBERON_0003037	septum		
http://purl.obolibrary.org/obo/UBERON_0014790	lingual septum	http://purl.obolibrary.org/obo/UBERON_0003037	septum		
http://purl.obolibrary.org/obo/UBERON_0011925	preganglionic autonomic fiber	http://purl.obolibrary.org/obo/UBERON_0003041	trigeminal nerve fibers		
http://purl.obolibrary.org/obo/UBERON_0005502	rhombomere roof plate	http://purl.obolibrary.org/obo/UBERON_0003054	roof plate		
http://purl.obolibrary.org/obo/UBERON_0003304	mesoderm blood island	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0003069	otic placode	http://purl.obolibrary.org/obo/UBERON_0003067	dorsolateral placode		
http://purl.obolibrary.org/obo/UBERON_0003070	trigeminal placode complex	http://purl.obolibrary.org/obo/UBERON_0003067	dorsolateral placode		
http://purl.obolibrary.org/obo/UBERON_0003854	spinal cord neural plate	http://purl.obolibrary.org/obo/UBERON_0003075	neural plate		
http://purl.obolibrary.org/obo/UBERON_0009610	forebrain neural plate	http://purl.obolibrary.org/obo/UBERON_0003075	neural plate		
http://purl.obolibrary.org/obo/UBERON_0009611	midbrain neural plate	http://purl.obolibrary.org/obo/UBERON_0003075	neural plate		
http://purl.obolibrary.org/obo/UBERON_0009614	hindbrain neural plate	http://purl.obolibrary.org/obo/UBERON_0003075	neural plate		
http://purl.obolibrary.org/obo/UBERON_0009124	geniculate placode	http://purl.obolibrary.org/obo/UBERON_0003078	epibranchial placode		
http://purl.obolibrary.org/obo/UBERON_0009125	petrosal placode	http://purl.obolibrary.org/obo/UBERON_0003078	epibranchial placode		
http://purl.obolibrary.org/obo/UBERON_0009126	nodosal placode	http://purl.obolibrary.org/obo/UBERON_0003078	epibranchial placode		
http://purl.obolibrary.org/obo/UBERON_0005491	glossopharyngeal neural crest	http://purl.obolibrary.org/obo/UBERON_0003099	cranial neural crest		
http://purl.obolibrary.org/obo/UBERON_0005563	trigeminal neural crest	http://purl.obolibrary.org/obo/UBERON_0007530	migrating mesenchyme population		
http://purl.obolibrary.org/obo/UBERON_0005565	facio-acoustic neural crest	http://purl.obolibrary.org/obo/UBERON_0014387	mesenchyme derived from neural crest		
http://purl.obolibrary.org/obo/UBERON_0007098	mandibular neural crest	http://purl.obolibrary.org/obo/UBERON_0003099	cranial neural crest		
http://purl.obolibrary.org/obo/UBERON_0007099	hyoid neural crest	http://purl.obolibrary.org/obo/UBERON_0003099	cranial neural crest		
http://purl.obolibrary.org/obo/UBERON_0001833	lip	http://purl.obolibrary.org/obo/UBERON_0003102	surface structure		
http://purl.obolibrary.org/obo/UBERON_0004357	paired limb/fin bud	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006906	ala of nose	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0011154	gular region	http://purl.obolibrary.org/obo/UBERON_0003102	surface structure		
http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure	http://purl.obolibrary.org/obo/UBERON_0003102	surface structure		
http://purl.obolibrary.org/obo/UBERON_0000489	cavitated compound organ	http://purl.obolibrary.org/obo/UBERON_0003103	compound organ		
http://purl.obolibrary.org/obo/UBERON_0001005	respiratory airway	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0004869	parietal organ	http://purl.obolibrary.org/obo/UBERON_0003103	compound organ		
http://purl.obolibrary.org/obo/UBERON_0010056	future tongue	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0015228	circulatory organ	http://purl.obolibrary.org/obo/UBERON_0003103	compound organ		
http://purl.obolibrary.org/obo/UBERON_0003320	mesenchyme of hip	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003322	mesenchyme of shoulder	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003326	mesenchyme of mammary gland	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003416	mesenchyme of tongue	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003420	mesenchyme of sublingual gland	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003422	mesenchyme of umbilical cord	http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003855	gonad mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0003918	kidney mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0004160	proepicardium	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0004161	septum transversum	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0004208	nephrogenic mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0004883	lung mesenchyme	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005113	metanephric cortex mesenchyme	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005253	head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0005256	trunk mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0005323	mesonephric mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005702	optic eminence mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0006210	body-wall mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0007529	loose mesenchyme tissue	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0007530	migrating mesenchyme population	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009482	associated mesenchyme of foregut-midgut junction	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009503	mesenchyme of hindgut	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009504	mesenchyme of main bronchus	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009526	maxillary process mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0009538	mesenchyme of sublingual gland primordium	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0009749	limb mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009751	cardiac mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009752	pancreas mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009845	urogenital sinus mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010083	future dermis	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010299	scleral mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010333	extraembryonic membrane mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0010360	pharyngeal arch mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0014387	mesenchyme derived from neural crest	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0015418	urethra mesenchymal layer	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0036073	respiratory primordium mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0034995	jaw mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003104	mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0002299	alveolus of lung	http://purl.obolibrary.org/obo/UBERON_0003215	alveolus		
http://purl.obolibrary.org/obo/UBERON_0003214	mammary gland alveolus	http://purl.obolibrary.org/obo/UBERON_0003215	alveolus		
http://purl.obolibrary.org/obo/UBERON_0003358	epithelium of soft palate	http://purl.obolibrary.org/obo/UBERON_0003235	epithelium of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0003368	epithelium of hard palate	http://purl.obolibrary.org/obo/UBERON_0003235	epithelium of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0005658	secondary palatal shelf epithelium	http://purl.obolibrary.org/obo/UBERON_0003235	epithelium of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0003359	epithelium of submandibular gland	http://purl.obolibrary.org/obo/UBERON_0004809	salivary gland epithelium		
http://purl.obolibrary.org/obo/UBERON_0003360	epithelium of parotid gland	http://purl.obolibrary.org/obo/UBERON_0004809	salivary gland epithelium		
http://purl.obolibrary.org/obo/UBERON_0006957	submandibular gland primordium epithelium	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0004182	mammary gland cord	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0011593	maxillary tooth	http://purl.obolibrary.org/obo/UBERON_0003267	tooth of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0012070	palatal tooth	http://purl.obolibrary.org/obo/UBERON_0003267	tooth of upper jaw		
http://purl.obolibrary.org/obo/UBERON_2001626	premaxillary tooth	http://purl.obolibrary.org/obo/UBERON_0003267	tooth of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0011594	dentary tooth	http://purl.obolibrary.org/obo/UBERON_0003268	tooth of lower jaw		
http://purl.obolibrary.org/obo/UBERON_0004508	skeletal muscle tissue of levator palpebrae superioris	http://purl.obolibrary.org/obo/UBERON_0003269	skeletal muscle tissue of eye		
http://purl.obolibrary.org/obo/UBERON_0005602	dorsal mesogastrium	http://purl.obolibrary.org/obo/UBERON_0003281	mesentery of stomach		
http://purl.obolibrary.org/obo/UBERON_0005626	ventral mesogastrium	http://purl.obolibrary.org/obo/UBERON_0003281	mesentery of stomach		
http://purl.obolibrary.org/obo/UBERON_0005712	midgut duodenum mesentery	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003551	midbrain pia mater	http://purl.obolibrary.org/obo/UBERON_0003549	brain pia mater		
http://purl.obolibrary.org/obo/UBERON_0003552	telencephalon pia mater	http://purl.obolibrary.org/obo/UBERON_0003550	forebrain pia mater		
http://purl.obolibrary.org/obo/UBERON_0003563	telencephalon dura mater	http://purl.obolibrary.org/obo/UBERON_0003561	forebrain dura mater		
http://purl.obolibrary.org/obo/UBERON_0005400	telencephalon arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0003556	forebrain arachnoid mater		
http://purl.obolibrary.org/obo/UBERON_0003553	diencephalon pia mater	http://purl.obolibrary.org/obo/UBERON_0003550	forebrain pia mater		
http://purl.obolibrary.org/obo/UBERON_0003558	diencephalon arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0003556	forebrain arachnoid mater		
http://purl.obolibrary.org/obo/UBERON_0003564	diencephalon dura mater	http://purl.obolibrary.org/obo/UBERON_0003561	forebrain dura mater		
http://purl.obolibrary.org/obo/UBERON_0003554	hindbrain pia mater	http://purl.obolibrary.org/obo/UBERON_0003549	brain pia mater		
http://purl.obolibrary.org/obo/UBERON_0003410	oropharyngeal gland	http://purl.obolibrary.org/obo/UBERON_0003295	pharyngeal gland		
http://purl.obolibrary.org/obo/UBERON_0008310	nasopharyngeal gland	http://purl.obolibrary.org/obo/UBERON_0003295	pharyngeal gland		
http://purl.obolibrary.org/obo/UBERON_0001905	pineal body	http://purl.obolibrary.org/obo/UBERON_0010134	secretory circumventricular organ		
http://purl.obolibrary.org/obo/UBERON_0002198	neurohypophysis	http://purl.obolibrary.org/obo/UBERON_0010134	secretory circumventricular organ		
http://purl.obolibrary.org/obo/UBERON_0002419	skin gland	http://purl.obolibrary.org/obo/UBERON_0006003	integumentary adnexa		
http://purl.obolibrary.org/obo/UBERON_0006230	extrinsic ocular pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation		
http://purl.obolibrary.org/obo/UBERON_0010330	eyelid mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003314	eye mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0006213	carpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015049	carpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006214	carpus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015049	carpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0012081	patella pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0005866	pre-cartilage condensation		
http://purl.obolibrary.org/obo/UBERON_0006292	shoulder joint primordium	http://purl.obolibrary.org/obo/UBERON_0005856	developing mesenchymal condensation		
http://purl.obolibrary.org/obo/UBERON_0003417	mesenchyme of soft palate	http://purl.obolibrary.org/obo/UBERON_0003323	mesenchyme of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0003424	mesenchyme of hard palate	http://purl.obolibrary.org/obo/UBERON_0003323	mesenchyme of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0005704	secondary palatal shelf mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003323	mesenchyme of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0003414	mesenchyme of mandible	http://purl.obolibrary.org/obo/UBERON_0009891	facial mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003418	mesenchyme of submandibular gland	http://purl.obolibrary.org/obo/UBERON_0003324	mesenchyme of lower jaw		
http://purl.obolibrary.org/obo/UBERON_0003419	mesenchyme of parotid	http://purl.obolibrary.org/obo/UBERON_0009891	facial mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009539	mesenchyme of submandibular gland primordium	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0006287	radius-ulna pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015002	radius-ulna endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010846	radius pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015001	radius endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010847	ulna pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015003	ulna endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010848	radius-ulna cartilage element	http://purl.obolibrary.org/obo/UBERON_0015002	radius-ulna endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010540	tarsus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015050	tarsus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010541	tarsus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015050	tarsus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0004927	submucosa of cecum	http://purl.obolibrary.org/obo/UBERON_0003331	submucosa of colon		
http://purl.obolibrary.org/obo/UBERON_0004929	submucosa of ascending colon	http://purl.obolibrary.org/obo/UBERON_0003331	submucosa of colon		
http://purl.obolibrary.org/obo/UBERON_0004930	submucosa of transverse colon	http://purl.obolibrary.org/obo/UBERON_0003331	submucosa of colon		
http://purl.obolibrary.org/obo/UBERON_0004931	submucosa of descending colon	http://purl.obolibrary.org/obo/UBERON_0003331	submucosa of colon		
http://purl.obolibrary.org/obo/UBERON_0004932	submucosa of sigmoid colon	http://purl.obolibrary.org/obo/UBERON_0003331	submucosa of colon		
http://purl.obolibrary.org/obo/UBERON_0003395	mesentery of rectum	http://purl.obolibrary.org/obo/UBERON_0004854	gastrointestinal system mesentery		
http://purl.obolibrary.org/obo/UBERON_0003396	mesentery of colon	http://purl.obolibrary.org/obo/UBERON_0007826	peritoneal mesentery		
http://purl.obolibrary.org/obo/UBERON_0001805	autonomic ganglion	http://purl.obolibrary.org/obo/UBERON_0003338	ganglion of peripheral nervous system		
http://purl.obolibrary.org/obo/UBERON_0001976	epithelium of esophagus	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0002424	oral epithelium	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0004811	endometrium epithelium	http://purl.obolibrary.org/obo/UBERON_0006955	uterine epithelium		
http://purl.obolibrary.org/obo/UBERON_0005384	nasal cavity epithelium	http://purl.obolibrary.org/obo/UBERON_0019306	nose epithelium		
http://purl.obolibrary.org/obo/UBERON_0001951	epithelium of nasopharynx	http://purl.obolibrary.org/obo/UBERON_0004814	upper respiratory tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0001952	epithelium of oropharynx	http://purl.obolibrary.org/obo/UBERON_0004808	gastrointestinal system epithelium		
http://purl.obolibrary.org/obo/UBERON_0009695	epithelium of laryngopharynx	http://purl.obolibrary.org/obo/UBERON_0003351	pharyngeal epithelium		
http://purl.obolibrary.org/obo/UBERON_0013696	tonsil epithelium	http://purl.obolibrary.org/obo/UBERON_0003351	pharyngeal epithelium		
http://purl.obolibrary.org/obo/UBERON_0002351	sinoatrial node	http://purl.obolibrary.org/obo/UBERON_0010131	conducting tissue of heart		
http://purl.obolibrary.org/obo/UBERON_0001605	ciliary muscle	http://purl.obolibrary.org/obo/UBERON_0011222	intra-ocular muscle		
http://purl.obolibrary.org/obo/UBERON_0004234	iris smooth muscle	http://purl.obolibrary.org/obo/UBERON_0003386	smooth muscle of eye		
http://purl.obolibrary.org/obo/UBERON_0010379	superior tarsal muscle	http://purl.obolibrary.org/obo/UBERON_0003386	smooth muscle of eye		
http://purl.obolibrary.org/obo/UBERON_0015751	inferior tarsal muscle	http://purl.obolibrary.org/obo/UBERON_0003386	smooth muscle of eye		
http://purl.obolibrary.org/obo/UBERON_0007188	mesothelium of serous pericardium	http://purl.obolibrary.org/obo/UBERON_0003388	mesothelium of pericardial cavity		
http://purl.obolibrary.org/obo/UBERON_0005677	caecum mesentery	http://purl.obolibrary.org/obo/UBERON_0003396	mesentery of colon		
http://purl.obolibrary.org/obo/UBERON_0005711	foregut duodenum mesentery	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001739	laryngeal cartilage	http://purl.obolibrary.org/obo/UBERON_0011004	pharyngeal arch cartilage		
http://purl.obolibrary.org/obo/UBERON_0003603	lower respiratory tract cartilage	http://purl.obolibrary.org/obo/UBERON_0003406	cartilage of respiratory system		
http://purl.obolibrary.org/obo/UBERON_0000333	intestinal gland	http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0003294	gland of foregut	http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0003295	pharyngeal gland	http://purl.obolibrary.org/obo/UBERON_0036225	respiratory system gland		
http://purl.obolibrary.org/obo/UBERON_0004757	rectal salt gland	http://purl.obolibrary.org/obo/UBERON_0004758	salt gland		
http://purl.obolibrary.org/obo/UBERON_0004760	gland of anal canal	http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0008989	submucosal esophageal gland	http://purl.obolibrary.org/obo/UBERON_0011148	submucosal gland		
http://purl.obolibrary.org/obo/UBERON_0012478	cloacal gland	http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0013158	foregut-midgut junction gland	http://purl.obolibrary.org/obo/UBERON_0003408	gland of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0005667	connecting stalk mesoderm	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0010411	retroperitoneal fat pad	http://purl.obolibrary.org/obo/UBERON_0003427	abdominal fat pad		
http://purl.obolibrary.org/obo/UBERON_0013705	fascia of Scarpa	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0014464	renal fat pad	http://purl.obolibrary.org/obo/UBERON_0003427	abdominal fat pad		
http://purl.obolibrary.org/obo/UBERON_0015142	falciform fat	http://purl.obolibrary.org/obo/UBERON_0015143	mesenteric fat pad		
http://purl.obolibrary.org/obo/UBERON_0001267	femoral nerve	http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve		
http://purl.obolibrary.org/obo/UBERON_0001323	tibial nerve	http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve		
http://purl.obolibrary.org/obo/UBERON_0004214	upper leg nerve	http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve		
http://purl.obolibrary.org/obo/UBERON_0004218	lower leg nerve	http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve		
http://purl.obolibrary.org/obo/UBERON_0001148	median nerve	http://purl.obolibrary.org/obo/UBERON_0003433	arm nerve		
http://purl.obolibrary.org/obo/UBERON_0001492	radial nerve	http://purl.obolibrary.org/obo/UBERON_0003433	arm nerve		
http://purl.obolibrary.org/obo/UBERON_0001493	axillary nerve	http://purl.obolibrary.org/obo/UBERON_0003433	arm nerve		
http://purl.obolibrary.org/obo/UBERON_0001494	ulnar nerve	http://purl.obolibrary.org/obo/UBERON_0003433	arm nerve		
http://purl.obolibrary.org/obo/UBERON_0004216	lower arm nerve	http://purl.obolibrary.org/obo/UBERON_0003433	arm nerve		
http://purl.obolibrary.org/obo/UBERON_0004217	upper arm nerve	http://purl.obolibrary.org/obo/UBERON_0003433	arm nerve		
http://purl.obolibrary.org/obo/UBERON_0022297	palpebral branch of infra-orbital nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0022298	lower eyelid nerve	http://purl.obolibrary.org/obo/UBERON_0003437	eyelid nerve		
http://purl.obolibrary.org/obo/UBERON_0022299	upper eyelid nerve	http://purl.obolibrary.org/obo/UBERON_0003437	eyelid nerve		
http://purl.obolibrary.org/obo/UBERON_0003824	nerve of thoracic segment	http://purl.obolibrary.org/obo/UBERON_0003439	nerve of trunk region		
http://purl.obolibrary.org/obo/UBERON_0003825	nerve of abdominal segment	http://purl.obolibrary.org/obo/UBERON_0003439	nerve of trunk region		
http://purl.obolibrary.org/obo/UBERON_0003441	forelimb nerve	http://purl.obolibrary.org/obo/UBERON_0003440	limb nerve		
http://purl.obolibrary.org/obo/UBERON_0003442	hindlimb nerve	http://purl.obolibrary.org/obo/UBERON_0003440	limb nerve		
http://purl.obolibrary.org/obo/UBERON_0003433	arm nerve	http://purl.obolibrary.org/obo/UBERON_0003441	forelimb nerve		
http://purl.obolibrary.org/obo/UBERON_0003448	manus nerve	http://purl.obolibrary.org/obo/UBERON_0003441	forelimb nerve		
http://purl.obolibrary.org/obo/UBERON_0003431	leg nerve	http://purl.obolibrary.org/obo/UBERON_0003442	hindlimb nerve		
http://purl.obolibrary.org/obo/UBERON_0003445	pes nerve	http://purl.obolibrary.org/obo/UBERON_0003442	hindlimb nerve		
http://purl.obolibrary.org/obo/UBERON_0001884	phrenic nerve	http://purl.obolibrary.org/obo/UBERON_0003443	thoracic cavity nerve		
http://purl.obolibrary.org/obo/UBERON_0011390	pudendal nerve	http://purl.obolibrary.org/obo/UBERON_0003444	pelvis nerve		
http://purl.obolibrary.org/obo/UBERON_0003435	pedal digit nerve	http://purl.obolibrary.org/obo/UBERON_0003445	pes nerve		
http://purl.obolibrary.org/obo/UBERON_0003446	ankle nerve	http://purl.obolibrary.org/obo/UBERON_0003445	pes nerve		
http://purl.obolibrary.org/obo/UBERON_0003434	wrist nerve	http://purl.obolibrary.org/obo/UBERON_0003448	manus nerve		
http://purl.obolibrary.org/obo/UBERON_0003447	digit nerve of manus	http://purl.obolibrary.org/obo/UBERON_0003448	manus nerve		
http://purl.obolibrary.org/obo/UBERON_0018227	pulmonary lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0003456	respiratory system lymphatic vessel		
http://purl.obolibrary.org/obo/UBERON_0003462	facial bone	http://purl.obolibrary.org/obo/UBERON_0003457	head bone		
http://purl.obolibrary.org/obo/UBERON_0011164	neurocranium bone	http://purl.obolibrary.org/obo/UBERON_0004766	cranial bone		
http://purl.obolibrary.org/obo/UBERON_0012071	palate bone	http://purl.obolibrary.org/obo/UBERON_0008907	dermal bone		
http://purl.obolibrary.org/obo/UBERON_0002413	cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0015007	cervical vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0008434	cervical vertebral arch	http://purl.obolibrary.org/obo/UBERON_0004247	bone of dorsum		
http://purl.obolibrary.org/obo/UBERON_0003466	forelimb zeugopod bone	http://purl.obolibrary.org/obo/UBERON_0003460	arm bone		
http://purl.obolibrary.org/obo/UBERON_0004250	upper arm bone	http://purl.obolibrary.org/obo/UBERON_0003460	arm bone		
http://purl.obolibrary.org/obo/UBERON_0001683	jugal bone	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002500	zygomatic arch	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0010309	palpebral bone	http://purl.obolibrary.org/obo/UBERON_0010321	skeletal element of eye region		
http://purl.obolibrary.org/obo/UBERON_0012360	bone of jaw	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0003827	thoracic segment bone	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0003828	abdominal segment bone	http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element		
http://purl.obolibrary.org/obo/UBERON_0011677	trunk vertebra	http://purl.obolibrary.org/obo/UBERON_0004451	trunk or cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0003608	hindlimb long bone	http://purl.obolibrary.org/obo/UBERON_0003606	limb long bone		
http://purl.obolibrary.org/obo/UBERON_0005893	leg bone	http://purl.obolibrary.org/obo/UBERON_0003464	hindlimb bone		
http://purl.obolibrary.org/obo/UBERON_0005899	pes bone	http://purl.obolibrary.org/obo/UBERON_0011250	autopod bone		
http://purl.obolibrary.org/obo/UBERON_0001423	radius bone	http://purl.obolibrary.org/obo/UBERON_0015001	radius endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001424	ulna	http://purl.obolibrary.org/obo/UBERON_0015003	ulna endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006715	radio-ulna	http://purl.obolibrary.org/obo/UBERON_0015002	radius-ulna endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001312	superior vesical artery	http://purl.obolibrary.org/obo/UBERON_0009027	vesical artery		
http://purl.obolibrary.org/obo/UBERON_0004087	vena cava	http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart		
http://purl.obolibrary.org/obo/UBERON_0013231	sebaceous gland of eyelid	http://purl.obolibrary.org/obo/UBERON_0013229	eyelid gland		
http://purl.obolibrary.org/obo/UBERON_0003484	eye sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0003605	eye skin gland		
http://purl.obolibrary.org/obo/UBERON_0001653	facial vein	http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein		
http://purl.obolibrary.org/obo/UBERON_0001673	central retinal vein	http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein		
http://purl.obolibrary.org/obo/UBERON_0002443	choroidal blood vessel	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003470	artery of upper lip	http://purl.obolibrary.org/obo/UBERON_0009657	artery of lip		
http://purl.obolibrary.org/obo/UBERON_0003471	artery of lower lip	http://purl.obolibrary.org/obo/UBERON_0009657	artery of lip		
http://purl.obolibrary.org/obo/UBERON_0003500	corneal blood vessel	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003501	retina blood vessel	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003510	eyelid blood vessel	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003511	iris blood vessel	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004115	blood vessel of tympanic cavity	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005492	hyaloid vessel	http://purl.obolibrary.org/obo/UBERON_0003496	head blood vessel		
http://purl.obolibrary.org/obo/UBERON_0010367	conjunctival vein	http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein		
http://purl.obolibrary.org/obo/UBERON_0014686	angular vein	http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein		
http://purl.obolibrary.org/obo/UBERON_0014769	palpebral vein	http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein		
http://purl.obolibrary.org/obo/UBERON_0017635	paired venous dural sinus	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0003517	kidney blood vessel	http://purl.obolibrary.org/obo/UBERON_0003497	abdomen blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003910	splenic sinusoid	http://purl.obolibrary.org/obo/UBERON_0003909	sinusoid		
http://purl.obolibrary.org/obo/UBERON_0015796	liver blood vessel	http://purl.obolibrary.org/obo/UBERON_0003497	abdomen blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001621	coronary artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0004148	cardiac vein	http://purl.obolibrary.org/obo/UBERON_0013140	systemic vein		
http://purl.obolibrary.org/obo/UBERON_0016565	cerebral blood vessel	http://purl.obolibrary.org/obo/UBERON_0003499	brain blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004257	upper leg blood vessel	http://purl.obolibrary.org/obo/UBERON_0003503	leg blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004261	lower leg blood vessel	http://purl.obolibrary.org/obo/UBERON_0003503	leg blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003505	trachea blood vessel	http://purl.obolibrary.org/obo/UBERON_0003504	respiratory system blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003512	lung blood vessel	http://purl.obolibrary.org/obo/UBERON_0003834	thoracic segment blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003518	main bronchus blood vessel	http://purl.obolibrary.org/obo/UBERON_0003504	respiratory system blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003643	respiratory system arterial blood vessel	http://purl.obolibrary.org/obo/UBERON_0003509	arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_3010200	vasculature of respiratory integument	http://purl.obolibrary.org/obo/UBERON_0003504	respiratory system blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004259	lower arm blood vessel	http://purl.obolibrary.org/obo/UBERON_0003507	arm blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004260	upper arm blood vessel	http://purl.obolibrary.org/obo/UBERON_0003507	arm blood vessel		
http://purl.obolibrary.org/obo/UBERON_0000947	aorta	http://purl.obolibrary.org/obo/UBERON_0013768	great vessel of heart		
http://purl.obolibrary.org/obo/UBERON_0001637	artery	http://purl.obolibrary.org/obo/UBERON_0003509	arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001980	arteriole	http://purl.obolibrary.org/obo/UBERON_8410081	blood microvessel		
http://purl.obolibrary.org/obo/UBERON_0003644	kidney arterial blood vessel	http://purl.obolibrary.org/obo/UBERON_0003517	kidney blood vessel		
http://purl.obolibrary.org/obo/UBERON_0016405	pulmonary capillary	http://purl.obolibrary.org/obo/UBERON_0003526	respiratory system capillary		
http://purl.obolibrary.org/obo/UBERON_0003834	thoracic segment blood vessel	http://purl.obolibrary.org/obo/UBERON_0003513	trunk blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003835	abdominal segment blood vessel	http://purl.obolibrary.org/obo/UBERON_0003513	trunk blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003515	forelimb blood vessel	http://purl.obolibrary.org/obo/UBERON_0007300	pectoral appendage blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003516	hindlimb blood vessel	http://purl.obolibrary.org/obo/UBERON_0003514	limb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003507	arm blood vessel	http://purl.obolibrary.org/obo/UBERON_0003515	forelimb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003523	manus blood vessel	http://purl.obolibrary.org/obo/UBERON_0003515	forelimb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003503	leg blood vessel	http://purl.obolibrary.org/obo/UBERON_0003516	hindlimb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003521	pes blood vessel	http://purl.obolibrary.org/obo/UBERON_0003516	hindlimb blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004554	hindlimb digital artery	http://purl.obolibrary.org/obo/UBERON_0004552	digital artery		
http://purl.obolibrary.org/obo/UBERON_0014401	renal venous blood vessel	http://purl.obolibrary.org/obo/UBERON_0003920	venous blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003508	pedal digit blood vessel	http://purl.obolibrary.org/obo/UBERON_0003521	pes blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004553	forelimb digital artery	http://purl.obolibrary.org/obo/UBERON_0004552	digital artery		
http://purl.obolibrary.org/obo/UBERON_0003522	manual digit blood vessel	http://purl.obolibrary.org/obo/UBERON_0003523	manus blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004212	glomerular capillary	http://purl.obolibrary.org/obo/UBERON_0003527	kidney capillary		
http://purl.obolibrary.org/obo/UBERON_0002420	basal ganglion	http://purl.obolibrary.org/obo/UBERON_0007245	nuclear complex of neuraxis		
http://purl.obolibrary.org/obo/UBERON_0019263	gray matter of hindbrain	http://purl.obolibrary.org/obo/UBERON_0003528	brain gray matter		
http://purl.obolibrary.org/obo/UBERON_0019264	gray matter of forebrain	http://purl.obolibrary.org/obo/UBERON_0003528	brain gray matter		
http://purl.obolibrary.org/obo/UBERON_0019267	gray matter of midbrain	http://purl.obolibrary.org/obo/UBERON_0003528	brain gray matter		
http://purl.obolibrary.org/obo/UBERON_0005277	dorsal skin of toe	http://purl.obolibrary.org/obo/UBERON_0005275	dorsal skin of digit		
http://purl.obolibrary.org/obo/UBERON_0001519	skin of manus	http://purl.obolibrary.org/obo/UBERON_0015790	autopod skin		
http://purl.obolibrary.org/obo/UBERON_0002427	arm skin	http://purl.obolibrary.org/obo/UBERON_0003531	forelimb skin		
http://purl.obolibrary.org/obo/UBERON_0001511	skin of leg	http://purl.obolibrary.org/obo/UBERON_0003532	hindlimb skin		
http://purl.obolibrary.org/obo/UBERON_0001513	skin of pes	http://purl.obolibrary.org/obo/UBERON_0015790	autopod skin		
http://purl.obolibrary.org/obo/UBERON_0005276	dorsal skin of finger	http://purl.obolibrary.org/obo/UBERON_0005275	dorsal skin of digit		
http://purl.obolibrary.org/obo/UBERON_0014891	brainstem white matter	http://purl.obolibrary.org/obo/UBERON_0003544	brain white matter		
http://purl.obolibrary.org/obo/UBERON_0016554	white matter of midbrain	http://purl.obolibrary.org/obo/UBERON_0003544	brain white matter		
http://purl.obolibrary.org/obo/UBERON_0019258	white matter of hindbrain	http://purl.obolibrary.org/obo/UBERON_0003544	brain white matter		
http://purl.obolibrary.org/obo/UBERON_0019261	white matter of forebrain	http://purl.obolibrary.org/obo/UBERON_0003544	brain white matter		
http://purl.obolibrary.org/obo/UBERON_0003288	meninx of midbrain	http://purl.obolibrary.org/obo/UBERON_0003547	brain meninx		
http://purl.obolibrary.org/obo/UBERON_0003291	meninx of hindbrain	http://purl.obolibrary.org/obo/UBERON_0003547	brain meninx		
http://purl.obolibrary.org/obo/UBERON_0003548	forebrain meninges	http://purl.obolibrary.org/obo/UBERON_0003547	brain meninx		
http://purl.obolibrary.org/obo/UBERON_0003289	meninx of telencephalon	http://purl.obolibrary.org/obo/UBERON_0003548	forebrain meninges		
http://purl.obolibrary.org/obo/UBERON_0003290	meninx of diencephalon	http://purl.obolibrary.org/obo/UBERON_0003548	forebrain meninges		
http://purl.obolibrary.org/obo/UBERON_0003550	forebrain pia mater	http://purl.obolibrary.org/obo/UBERON_0003549	brain pia mater		
http://purl.obolibrary.org/obo/UBERON_0001798	vitreous body	http://purl.obolibrary.org/obo/UBERON_0011825	loose connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003581	eyelid connective tissue	http://purl.obolibrary.org/obo/UBERON_0003566	head connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003952	anterior stroma of cornea	http://purl.obolibrary.org/obo/UBERON_0003566	head connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003953	posterior stroma of cornea	http://purl.obolibrary.org/obo/UBERON_0003566	head connective tissue		
http://purl.obolibrary.org/obo/UBERON_0006671	orbital fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0012167	buccal fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0002015	kidney capsule	http://purl.obolibrary.org/obo/UBERON_0011824	fibrous connective tissue		
http://purl.obolibrary.org/obo/UBERON_0013493	abdominal fascia	http://purl.obolibrary.org/obo/UBERON_0008982	fascia		
http://purl.obolibrary.org/obo/UBERON_0013491	cervical fascia	http://purl.obolibrary.org/obo/UBERON_0008982	fascia		
http://purl.obolibrary.org/obo/UBERON_0003577	knee connective tissue	http://purl.obolibrary.org/obo/UBERON_0003569	leg connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004266	upper leg connective tissue	http://purl.obolibrary.org/obo/UBERON_0003569	leg connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004270	lower leg connective tissue	http://purl.obolibrary.org/obo/UBERON_0003569	leg connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003580	lower respiratory tract connective tissue	http://purl.obolibrary.org/obo/UBERON_0003570	respiratory system connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003582	nasopharynx connective tissue	http://purl.obolibrary.org/obo/UBERON_0003570	respiratory system connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003583	larynx connective tissue	http://purl.obolibrary.org/obo/UBERON_0003570	respiratory system connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003617	trachea elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003611	respiratory system elastic tissue		
http://purl.obolibrary.org/obo/UBERON_0009644	trachea non-cartilage connective tissue	http://purl.obolibrary.org/obo/UBERON_0003571	trachea connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003574	elbow connective tissue	http://purl.obolibrary.org/obo/UBERON_0003573	arm connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004268	lower arm connective tissue	http://purl.obolibrary.org/obo/UBERON_0003573	arm connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004269	upper arm connective tissue	http://purl.obolibrary.org/obo/UBERON_0003573	arm connective tissue		
http://purl.obolibrary.org/obo/UBERON_0016400	infrapatellar fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0000114	lung connective tissue	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003571	trachea connective tissue	http://purl.obolibrary.org/obo/UBERON_0003580	lower respiratory tract connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003592	bronchus connective tissue	http://purl.obolibrary.org/obo/UBERON_0003580	lower respiratory tract connective tissue		
http://purl.obolibrary.org/obo/UBERON_0009648	eyelid subcutaneous connective tissue	http://purl.obolibrary.org/obo/UBERON_0003581	eyelid connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003837	thoracic segment connective tissue	http://purl.obolibrary.org/obo/UBERON_0003586	trunk connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003838	abdominal segment connective tissue	http://purl.obolibrary.org/obo/UBERON_0003586	trunk connective tissue		
http://purl.obolibrary.org/obo/UBERON_0015454	pancreatic fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0003588	forelimb connective tissue	http://purl.obolibrary.org/obo/UBERON_0003587	limb connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003589	hindlimb connective tissue	http://purl.obolibrary.org/obo/UBERON_0003587	limb connective tissue		
http://purl.obolibrary.org/obo/UBERON_0015791	digit connective tissue	http://purl.obolibrary.org/obo/UBERON_0003587	limb connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003573	arm connective tissue	http://purl.obolibrary.org/obo/UBERON_0003588	forelimb connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003598	manus connective tissue	http://purl.obolibrary.org/obo/UBERON_0003588	forelimb connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003569	leg connective tissue	http://purl.obolibrary.org/obo/UBERON_0003589	hindlimb connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003595	pes connective tissue	http://purl.obolibrary.org/obo/UBERON_0003589	hindlimb connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003590	main bronchus connective tissue	http://purl.obolibrary.org/obo/UBERON_0003592	bronchus connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003616	bronchus elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003611	respiratory system elastic tissue		
http://purl.obolibrary.org/obo/UBERON_0015458	mediastinal fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0003578	pedal digit connective tissue	http://purl.obolibrary.org/obo/UBERON_0015791	digit connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003596	ankle connective tissue	http://purl.obolibrary.org/obo/UBERON_0003595	pes connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003575	wrist connective tissue	http://purl.obolibrary.org/obo/UBERON_0003598	manus connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003597	manual digit connective tissue	http://purl.obolibrary.org/obo/UBERON_0015791	digit connective tissue		
http://purl.obolibrary.org/obo/UBERON_0035096	fascia of tail	http://purl.obolibrary.org/obo/UBERON_0008982	fascia		
http://purl.obolibrary.org/obo/UBERON_0018132	tail fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0013505	cervical vertebra cartilage element	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0001956	cartilage of bronchus	http://purl.obolibrary.org/obo/UBERON_0003603	lower respiratory tract cartilage		
http://purl.obolibrary.org/obo/UBERON_0003604	trachea cartilage	http://purl.obolibrary.org/obo/UBERON_0003603	lower respiratory tract cartilage		
http://purl.obolibrary.org/obo/UBERON_0003221	phalanx	http://purl.obolibrary.org/obo/UBERON_0015023	phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003607	forelimb long bone	http://purl.obolibrary.org/obo/UBERON_0008962	forelimb bone		
http://purl.obolibrary.org/obo/UBERON_0002374	metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0000981	femur	http://purl.obolibrary.org/obo/UBERON_0015052	femur endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001448	metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003610	heart elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003837	thoracic segment connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003614	blood vessel elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003613	cardiovascular system elastic tissue		
http://purl.obolibrary.org/obo/UBERON_0003609	aorta elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003614	blood vessel elastic tissue		
http://purl.obolibrary.org/obo/UBERON_0004337	distal phalanx of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0014483	distal phalanx of digit 1		
http://purl.obolibrary.org/obo/UBERON_0004311	distal phalanx of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0014484	distal phalanx of digit 2		
http://purl.obolibrary.org/obo/UBERON_0004320	middle phalanx of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0014488	middle phalanx of digit 2		
http://purl.obolibrary.org/obo/UBERON_0004312	distal phalanx of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0014485	distal phalanx of digit 3		
http://purl.obolibrary.org/obo/UBERON_0004321	middle phalanx of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0014489	middle phalanx of digit 3		
http://purl.obolibrary.org/obo/UBERON_0004313	distal phalanx of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0014486	distal phalanx of digit 4		
http://purl.obolibrary.org/obo/UBERON_0004322	middle phalanx of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0014490	middle phalanx of digit 4		
http://purl.obolibrary.org/obo/UBERON_0004314	distal phalanx of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0014487	distal phalanx of digit 5		
http://purl.obolibrary.org/obo/UBERON_0004323	middle phalanx of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0014491	middle phalanx of digit 5		
http://purl.obolibrary.org/obo/UBERON_0004315	distal phalanx of pedal digit 1	http://purl.obolibrary.org/obo/UBERON_0014483	distal phalanx of digit 1		
http://purl.obolibrary.org/obo/UBERON_0004332	proximal phalanx of pedal digit 1	http://purl.obolibrary.org/obo/UBERON_0014501	proximal phalanx of digit 1		
http://purl.obolibrary.org/obo/UBERON_0004316	distal phalanx of pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0014484	distal phalanx of digit 2		
http://purl.obolibrary.org/obo/UBERON_0004324	middle phalanx of pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0014488	middle phalanx of digit 2		
http://purl.obolibrary.org/obo/UBERON_0004333	proximal phalanx of pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0014502	proximal phalanx of digit 2		
http://purl.obolibrary.org/obo/UBERON_0004317	distal phalanx of pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0014485	distal phalanx of digit 3		
http://purl.obolibrary.org/obo/UBERON_0004325	middle phalanx of pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0014489	middle phalanx of digit 3		
http://purl.obolibrary.org/obo/UBERON_0004334	proximal phalanx of pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0014503	proximal phalanx of digit 3		
http://purl.obolibrary.org/obo/UBERON_0004723	interlobular artery	http://purl.obolibrary.org/obo/UBERON_0003644	kidney arterial blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001435	carpal bone	http://purl.obolibrary.org/obo/UBERON_0015049	carpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001447	tarsal bone	http://purl.obolibrary.org/obo/UBERON_0015050	tarsus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0014395	proximal mesopodial bone	http://purl.obolibrary.org/obo/UBERON_0017750	proximal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0018102	distal mesopodial bone	http://purl.obolibrary.org/obo/UBERON_0018099	distal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0003839	forelimb joint	http://purl.obolibrary.org/obo/UBERON_0003657	limb joint		
http://purl.obolibrary.org/obo/UBERON_0003840	hindlimb joint	http://purl.obolibrary.org/obo/UBERON_0003657	limb joint		
http://purl.obolibrary.org/obo/UBERON_0003841	autopod joint	http://purl.obolibrary.org/obo/UBERON_0003657	limb joint		
http://purl.obolibrary.org/obo/UBERON_0003662	forelimb muscle	http://purl.obolibrary.org/obo/UBERON_0014794	pectoral appendage muscle		
http://purl.obolibrary.org/obo/UBERON_0003663	hindlimb muscle	http://purl.obolibrary.org/obo/UBERON_0014795	pelvic appendage muscle		
http://purl.obolibrary.org/obo/UBERON_0001499	muscle of arm	http://purl.obolibrary.org/obo/UBERON_0003662	forelimb muscle		
http://purl.obolibrary.org/obo/UBERON_0001500	muscle of manus	http://purl.obolibrary.org/obo/UBERON_0003662	forelimb muscle		
http://purl.obolibrary.org/obo/UBERON_0001383	muscle of leg	http://purl.obolibrary.org/obo/UBERON_0003663	hindlimb muscle		
http://purl.obolibrary.org/obo/UBERON_0001498	muscle of pes	http://purl.obolibrary.org/obo/UBERON_0003663	hindlimb muscle		
http://purl.obolibrary.org/obo/UBERON_0009678	tooth row	http://purl.obolibrary.org/obo/UBERON_0034926	anatomical row		
http://purl.obolibrary.org/obo/UBERON_0017615	vomerine dentition	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010235	uvular muscle	http://purl.obolibrary.org/obo/UBERON_0003682	palatal muscle		
http://purl.obolibrary.org/obo/UBERON_0035127	suture of hard palate	http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture		
http://purl.obolibrary.org/obo/UBERON_0002490	frontal suture	http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture		
http://purl.obolibrary.org/obo/UBERON_0004273	cartilaginous joint suture	http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture		
http://purl.obolibrary.org/obo/UBERON_0010156	sphenofrontal suture	http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture		
http://purl.obolibrary.org/obo/UBERON_0010158	sphenozygomatic suture	http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture		
http://purl.obolibrary.org/obo/UBERON_0034909	intermaxillary suture	http://purl.obolibrary.org/obo/UBERON_0009199	facial suture		
http://purl.obolibrary.org/obo/UBERON_0005448	greater omentum	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0007735	metacarpophalangeal joint of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0003695	metacarpophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007738	metacarpophalangeal joint of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0003695	metacarpophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007741	metacarpophalangeal joint of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0003695	metacarpophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007744	metacarpophalangeal joint of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0003695	metacarpophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007747	metacarpophalangeal joint of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0003695	metacarpophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007750	metatarsophalangeal joint of pedal digit 1	http://purl.obolibrary.org/obo/UBERON_0003696	metatarsophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007753	metatarsophalangeal joint of pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0003696	metatarsophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007756	metatarsophalangeal joint of pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0003696	metatarsophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007759	metatarsophalangeal joint of pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0003696	metatarsophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0007762	metatarsophalangeal joint of pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0003696	metatarsophalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0036343	wall of gallbladder	http://purl.obolibrary.org/obo/UBERON_0003697	abdominal wall		
http://purl.obolibrary.org/obo/UBERON_0011971	calcaneofibular ligament	http://purl.obolibrary.org/obo/UBERON_0003701	calcaneal tendon		
http://purl.obolibrary.org/obo/UBERON_0004353	female inguinal canal	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004354	male inguinal canal	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0011766	left recurrent laryngeal nerve	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0011767	right recurrent laryngeal nerve	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001828	gingiva	http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa		
http://purl.obolibrary.org/obo/UBERON_0006956	buccal mucosa	http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa		
http://purl.obolibrary.org/obo/UBERON_0003343	mucosa of oral region	http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa		
http://purl.obolibrary.org/obo/UBERON_0005019	mucosa of palate	http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa		
http://purl.obolibrary.org/obo/UBERON_0005020	mucosa of tongue	http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa		
http://purl.obolibrary.org/obo/UBERON_0036294	mucosa of lip	http://purl.obolibrary.org/obo/UBERON_0003729	mouth mucosa		
http://purl.obolibrary.org/obo/UBERON_0013581	metapodium bone 1	http://purl.obolibrary.org/obo/UBERON_0003821	metapodium bone		
http://purl.obolibrary.org/obo/UBERON_0013582	metapodium bone 2	http://purl.obolibrary.org/obo/UBERON_0003821	metapodium bone		
http://purl.obolibrary.org/obo/UBERON_0013583	metapodium bone 3	http://purl.obolibrary.org/obo/UBERON_0003821	metapodium bone		
http://purl.obolibrary.org/obo/UBERON_0013584	metapodium bone 4	http://purl.obolibrary.org/obo/UBERON_0003821	metapodium bone		
http://purl.obolibrary.org/obo/UBERON_0013585	metapodium bone 5	http://purl.obolibrary.org/obo/UBERON_0003821	metapodium bone		
http://purl.obolibrary.org/obo/UBERON_0013586	fused metapodial bones 3 and 4	http://purl.obolibrary.org/obo/UBERON_0003821	metapodium bone		
http://purl.obolibrary.org/obo/UBERON_0003432	chest nerve	http://purl.obolibrary.org/obo/UBERON_0003824	nerve of thoracic segment		
http://purl.obolibrary.org/obo/UBERON_0003429	abdomen nerve	http://purl.obolibrary.org/obo/UBERON_0003825	nerve of abdominal segment		
http://purl.obolibrary.org/obo/UBERON_0003444	pelvis nerve	http://purl.obolibrary.org/obo/UBERON_0003825	nerve of abdominal segment		
http://purl.obolibrary.org/obo/UBERON_0003459	chest bone	http://purl.obolibrary.org/obo/UBERON_0005175	chest organ		
http://purl.obolibrary.org/obo/UBERON_0008436	thoracic vertebral arch	http://purl.obolibrary.org/obo/UBERON_0004247	bone of dorsum		
http://purl.obolibrary.org/obo/UBERON_0003690	fused sacrum	http://purl.obolibrary.org/obo/UBERON_0008001	irregular bone		
http://purl.obolibrary.org/obo/UBERON_0007830	pelvic girdle bone/zone	http://purl.obolibrary.org/obo/UBERON_0010742	bone of pelvic complex		
http://purl.obolibrary.org/obo/UBERON_0008433	lumbar vertebral arch	http://purl.obolibrary.org/obo/UBERON_0004247	bone of dorsum		
http://purl.obolibrary.org/obo/UBERON_0008435	vertebral arch of sacral segment	http://purl.obolibrary.org/obo/UBERON_0005179	pelvic region element		
http://purl.obolibrary.org/obo/UBERON_0004917	urethral sphincter	http://purl.obolibrary.org/obo/UBERON_0004590	sphincter muscle		
http://purl.obolibrary.org/obo/UBERON_0001103	diaphragm	http://purl.obolibrary.org/obo/UBERON_0003831	respiratory system muscle		
http://purl.obolibrary.org/obo/UBERON_0002426	chest muscle	http://purl.obolibrary.org/obo/UBERON_0005175	chest organ		
http://purl.obolibrary.org/obo/UBERON_0014398	respiratory muscle	http://purl.obolibrary.org/obo/UBERON_0003831	respiratory system muscle		
http://purl.obolibrary.org/obo/UBERON_0007652	esophageal sphincter	http://purl.obolibrary.org/obo/UBERON_0004590	sphincter muscle		
http://purl.obolibrary.org/obo/UBERON_0001325	muscle of pelvis	http://purl.obolibrary.org/obo/UBERON_0005179	pelvic region element		
http://purl.obolibrary.org/obo/UBERON_0002378	muscle of abdomen	http://purl.obolibrary.org/obo/UBERON_0005172	abdomen element		
http://purl.obolibrary.org/obo/UBERON_0003498	heart blood vessel	http://purl.obolibrary.org/obo/UBERON_0005985	coronary vessel		
http://purl.obolibrary.org/obo/UBERON_0003506	chest blood vessel	http://purl.obolibrary.org/obo/UBERON_0003834	thoracic segment blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003497	abdomen blood vessel	http://purl.obolibrary.org/obo/UBERON_0003835	abdominal segment blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003520	pelvis blood vessel	http://purl.obolibrary.org/obo/UBERON_0003835	abdominal segment blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001415	skin of pelvis	http://purl.obolibrary.org/obo/UBERON_0003836	abdominal segment skin		
http://purl.obolibrary.org/obo/UBERON_0001416	skin of abdomen	http://purl.obolibrary.org/obo/UBERON_0003836	abdominal segment skin		
http://purl.obolibrary.org/obo/UBERON_8410021	inguinal region skin	http://purl.obolibrary.org/obo/UBERON_0003836	abdominal segment skin		
http://purl.obolibrary.org/obo/UBERON_0003572	chest connective tissue	http://purl.obolibrary.org/obo/UBERON_0003837	thoracic segment connective tissue		
http://purl.obolibrary.org/obo/UBERON_0004292	cardiac skeleton	http://purl.obolibrary.org/obo/UBERON_0003837	thoracic segment connective tissue		
http://purl.obolibrary.org/obo/UBERON_0006008	fibrous ring of heart	http://purl.obolibrary.org/obo/UBERON_0006444	annulus fibrosus		
http://purl.obolibrary.org/obo/UBERON_0015129	epicardial fat	http://purl.obolibrary.org/obo/UBERON_0035814	pericardial fat		
http://purl.obolibrary.org/obo/UBERON_0003567	abdomen connective tissue	http://purl.obolibrary.org/obo/UBERON_0003838	abdominal segment connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003594	pelvis connective tissue	http://purl.obolibrary.org/obo/UBERON_0003838	abdominal segment connective tissue		
http://purl.obolibrary.org/obo/UBERON_0010410	inguinal fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0001489	manus joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0001528	radio-ulnar joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0011111	humeroradial joint	http://purl.obolibrary.org/obo/UBERON_0003839	forelimb joint		
http://purl.obolibrary.org/obo/UBERON_0001485	knee joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0001487	pes joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0001488	ankle joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0011166	patellofemoral joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0006658	interphalangeal joint	http://purl.obolibrary.org/obo/UBERON_0011139	synovial limb joint		
http://purl.obolibrary.org/obo/UBERON_0006936	thymus subcapsular epithelium	http://purl.obolibrary.org/obo/UBERON_0003846	thymus epithelium		
http://purl.obolibrary.org/obo/UBERON_0003312	mesenchyme of testis	http://purl.obolibrary.org/obo/UBERON_0003855	gonad mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003315	mesenchyme of ovary	http://purl.obolibrary.org/obo/UBERON_0003855	gonad mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003318	mesenchyme of elbow	http://purl.obolibrary.org/obo/UBERON_0003859	forelimb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003319	mesenchyme of carpal region	http://purl.obolibrary.org/obo/UBERON_0003859	forelimb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003327	mesenchyme of forearm	http://purl.obolibrary.org/obo/UBERON_0003859	forelimb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005257	manual digit mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010702	digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005258	upper arm mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003859	forelimb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003321	mesenchyme of knee	http://purl.obolibrary.org/obo/UBERON_0003860	hindlimb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005254	upper leg mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003860	hindlimb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005255	pedal digit mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010702	digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005259	lower leg mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003860	hindlimb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010687	pedal digit metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010695	mesenchyme of tarsal region	http://purl.obolibrary.org/obo/UBERON_0003860	hindlimb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0012080	patella cartilage element	http://purl.obolibrary.org/obo/UBERON_0005863	cartilaginous condensation		
http://purl.obolibrary.org/obo/UBERON_0000218	vertebral arch of axis	http://purl.obolibrary.org/obo/UBERON_0003861	neural arch		
http://purl.obolibrary.org/obo/UBERON_0004318	distal phalanx of pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0014486	distal phalanx of digit 4		
http://purl.obolibrary.org/obo/UBERON_0004326	middle phalanx of pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0014490	middle phalanx of digit 4		
http://purl.obolibrary.org/obo/UBERON_0004335	proximal phalanx of pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0014504	proximal phalanx of digit 4		
http://purl.obolibrary.org/obo/UBERON_0004319	distal phalanx of pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0014487	distal phalanx of digit 5		
http://purl.obolibrary.org/obo/UBERON_0004327	middle phalanx of pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0014491	middle phalanx of digit 5		
http://purl.obolibrary.org/obo/UBERON_0004336	proximal phalanx of pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0014505	proximal phalanx of digit 5		
http://purl.obolibrary.org/obo/UBERON_0006304	future trigeminal ganglion	http://purl.obolibrary.org/obo/UBERON_0003869	presumptive ganglion		
http://purl.obolibrary.org/obo/UBERON_0001777	substantia propria of cornea	http://purl.obolibrary.org/obo/UBERON_0003891	stroma		
http://purl.obolibrary.org/obo/UBERON_0001779	iris stroma	http://purl.obolibrary.org/obo/UBERON_0003891	stroma		
http://purl.obolibrary.org/obo/UBERON_0002337	endometrial stroma	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004184	prostate gland stroma	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0005169	interstitial tissue	http://purl.obolibrary.org/obo/UBERON_0003891	stroma		
http://purl.obolibrary.org/obo/UBERON_0005206	choroid plexus stroma	http://purl.obolibrary.org/obo/UBERON_0003891	stroma		
http://purl.obolibrary.org/obo/UBERON_0005215	kidney interstitium	http://purl.obolibrary.org/obo/UBERON_0005169	interstitial tissue		
http://purl.obolibrary.org/obo/UBERON_0006960	ovary stroma	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0007195	stroma of bone marrow	http://purl.obolibrary.org/obo/UBERON_0003891	stroma		
http://purl.obolibrary.org/obo/UBERON_0010233	stroma of thyroid gland	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0010295	substantia propria of sclera	http://purl.obolibrary.org/obo/UBERON_0010291	layer of sclera		
http://purl.obolibrary.org/obo/UBERON_0016478	liver stroma	http://purl.obolibrary.org/obo/UBERON_0003891	stroma		
http://purl.obolibrary.org/obo/UBERON_0018234	stroma of pancreas	http://purl.obolibrary.org/obo/UBERON_0003891	stroma		
http://purl.obolibrary.org/obo/UBERON_0001307	capsule of ovary	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0001746	capsule of thyroid gland	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0001748	capsule of parathyroid gland	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0002052	adrenal gland capsule	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0002122	capsule of thymus	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0002194	capsule of lymph node	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0004641	spleen capsule	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0005207	tonsil capsule	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0016479	capsule of liver	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0018235	capsule of pancreas	http://purl.obolibrary.org/obo/UBERON_0003893	capsule		
http://purl.obolibrary.org/obo/UBERON_0035316	prostatic capsule	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004495	skeletal muscle tissue of diaphragm	http://purl.obolibrary.org/obo/UBERON_0004830	respiratory system skeletal muscle		
http://purl.obolibrary.org/obo/UBERON_0001281	hepatic sinusoid	http://purl.obolibrary.org/obo/UBERON_0015796	liver blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004274	lateral ventricle choroid plexus epithelium	http://purl.obolibrary.org/obo/UBERON_0003911	choroid plexus epithelium		
http://purl.obolibrary.org/obo/UBERON_0004275	third ventricle choroid plexus epithelium	http://purl.obolibrary.org/obo/UBERON_0003911	choroid plexus epithelium		
http://purl.obolibrary.org/obo/UBERON_0004276	fourth ventricle choroid plexus epithelium	http://purl.obolibrary.org/obo/UBERON_0003911	choroid plexus epithelium		
http://purl.obolibrary.org/obo/UBERON_0001091	calcareous tooth	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010894	keratinous tooth	http://purl.obolibrary.org/obo/UBERON_0003913	tooth-like structure		
http://purl.obolibrary.org/obo/UBERON_0012468	anal tooth	http://purl.obolibrary.org/obo/UBERON_0003913	tooth-like structure		
http://purl.obolibrary.org/obo/UBERON_0000083	mesonephric tubule	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0001049	neural tube	http://purl.obolibrary.org/obo/UBERON_0016879	future central nervous system		
http://purl.obolibrary.org/obo/UBERON_0002325	epithelium of urethra	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0004141	heart tube	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0005106	metanephric tubule	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0006279	pleuroperitoneal canal	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0007499	epithelial sac	http://purl.obolibrary.org/obo/UBERON_0009856	sac		
http://purl.obolibrary.org/obo/UBERON_0007500	epithelial tube open at both ends	http://purl.obolibrary.org/obo/UBERON_0003914	epithelial tube		
http://purl.obolibrary.org/obo/UBERON_0007684	uriniferous tubule	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0009201	nephric duct	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0009773	renal tubule	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0010062	pharyngotympanic tube epithelium	http://purl.obolibrary.org/obo/UBERON_0015813	middle ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0010065	auditory meatus epithelium	http://purl.obolibrary.org/obo/UBERON_0015814	outer ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0010532	primitive nephron	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0011202	urachus epithelium	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0013247	male paramesonephric duct	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct	http://purl.obolibrary.org/obo/UBERON_0003914	epithelial tube		
http://purl.obolibrary.org/obo/UBERON_0001917	endothelium of artery	http://purl.obolibrary.org/obo/UBERON_0004700	arterial system endothelium		
http://purl.obolibrary.org/obo/UBERON_0003427	abdominal fat pad	http://purl.obolibrary.org/obo/UBERON_0007808	adipose tissue of abdominal region		
http://purl.obolibrary.org/obo/UBERON_0003428	gonadal fat pad	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0010412	epididymal fat pad	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0012282	mammary fat pad	http://purl.obolibrary.org/obo/UBERON_0004180	mammary gland fat		
http://purl.obolibrary.org/obo/UBERON_0012283	femoral fat pad	http://purl.obolibrary.org/obo/UBERON_0004266	upper leg connective tissue		
http://purl.obolibrary.org/obo/UBERON_0014394	uterine fat pad	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0015143	mesenteric fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0015477	axillary fat pad	http://purl.obolibrary.org/obo/UBERON_0003916	fat pad		
http://purl.obolibrary.org/obo/UBERON_0003220	metanephric mesenchyme	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0001638	vein	http://purl.obolibrary.org/obo/UBERON_0003920	venous blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001979	venule	http://purl.obolibrary.org/obo/UBERON_8410081	blood microvessel		
http://purl.obolibrary.org/obo/UBERON_0006615	venous sinus	http://purl.obolibrary.org/obo/UBERON_0003920	venous blood vessel		
http://purl.obolibrary.org/obo/UBERON_0003923	dorsal pancreatic bud	http://purl.obolibrary.org/obo/UBERON_0003922	pancreatic epithelial bud		
http://purl.obolibrary.org/obo/UBERON_0003924	ventral pancreatic bud	http://purl.obolibrary.org/obo/UBERON_0003922	pancreatic epithelial bud		
http://purl.obolibrary.org/obo/UBERON_0007329	pancreatic duct	http://purl.obolibrary.org/obo/UBERON_0004119	endoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003351	pharyngeal epithelium	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0003352	epithelium of midgut	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0003353	epithelium of hindgut	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0003357	epithelium of tongue	http://purl.obolibrary.org/obo/UBERON_0019304	sensory organ epithelium		
http://purl.obolibrary.org/obo/UBERON_0004809	salivary gland epithelium	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0006913	lip epithelium	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0012481	cloacal epithelium	http://purl.obolibrary.org/obo/UBERON_0005911	endo-epithelium		
http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0016885	epithelium of terminal part of digestive tract	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0035037	jaw epithelium	http://purl.obolibrary.org/obo/UBERON_0003929	digestive tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0005410	cartilaginous otic capsule	http://purl.obolibrary.org/obo/UBERON_0004637	otic capsule		
http://purl.obolibrary.org/obo/UBERON_0005687	orbitosphenoid cartilage element	http://purl.obolibrary.org/obo/UBERON_0015059	orbitosphenoid endochondral element		
http://purl.obolibrary.org/obo/UBERON_0009193	sphenoid cartilage element	http://purl.obolibrary.org/obo/UBERON_0015060	sphenoid endochondral element		
http://purl.obolibrary.org/obo/UBERON_0009636	prechordal cartilage	http://purl.obolibrary.org/obo/UBERON_0003932	cartilage element of chondrocranium		
http://purl.obolibrary.org/obo/UBERON_0009640	hypophyseal cartilage	http://purl.obolibrary.org/obo/UBERON_0003932	cartilage element of chondrocranium		
http://purl.obolibrary.org/obo/UBERON_0003932	cartilage element of chondrocranium	http://purl.obolibrary.org/obo/UBERON_0003933	cranial cartilage		
http://purl.obolibrary.org/obo/UBERON_0011004	pharyngeal arch cartilage	http://purl.obolibrary.org/obo/UBERON_0003933	cranial cartilage		
http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland	http://purl.obolibrary.org/obo/UBERON_0003937	reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0005399	male reproductive gland	http://purl.obolibrary.org/obo/UBERON_0003937	reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0001886	choroid plexus	http://purl.obolibrary.org/obo/UBERON_0036303	vasculature of central nervous system		
http://purl.obolibrary.org/obo/UBERON_0004086	brain ventricle	http://purl.obolibrary.org/obo/UBERON_0005358	ventricle of nervous system		
http://purl.obolibrary.org/obo/UBERON_0001542	inguinal lymph node	http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element		
http://purl.obolibrary.org/obo/UBERON_0001543	popliteal lymph node	http://purl.obolibrary.org/obo/UBERON_0016398	lymph node of lower limb		
http://purl.obolibrary.org/obo/UBERON_0000946	cardiac valve	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0005208	right atrium valve	http://purl.obolibrary.org/obo/UBERON_0003978	valve		
http://purl.obolibrary.org/obo/UBERON_0006675	venous valve	http://purl.obolibrary.org/obo/UBERON_0003978	valve		
http://purl.obolibrary.org/obo/UBERON_0009973	ureterovesical junction	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0015420	ureteral valve	http://purl.obolibrary.org/obo/UBERON_0003978	valve		
http://purl.obolibrary.org/obo/UBERON_0004186	olfactory bulb mitral cell layer	http://purl.obolibrary.org/obo/UBERON_0004001	olfactory bulb layer		
http://purl.obolibrary.org/obo/UBERON_0005378	olfactory bulb granule cell layer	http://purl.obolibrary.org/obo/UBERON_0004001	olfactory bulb layer		
http://purl.obolibrary.org/obo/UBERON_0009950	olfactory bulb plexiform layer	http://purl.obolibrary.org/obo/UBERON_0004001	olfactory bulb layer		
http://purl.obolibrary.org/obo/UBERON_0034994	hindbrain cortical intermediate zone	http://purl.obolibrary.org/obo/UBERON_0004040	cortical intermediate zone		
http://purl.obolibrary.org/obo/UBERON_0013160	epithalamus ventricular layer	http://purl.obolibrary.org/obo/UBERON_0004060	neural tube ventricular layer		
http://purl.obolibrary.org/obo/UBERON_0034710	spinal cord ventricular layer	http://purl.obolibrary.org/obo/UBERON_0004060	neural tube ventricular layer		
http://purl.obolibrary.org/obo/UBERON_0009580	diencephalon mantle layer	http://purl.obolibrary.org/obo/UBERON_0004061	neural tube mantle layer		
http://purl.obolibrary.org/obo/UBERON_0009581	midbrain mantle layer	http://purl.obolibrary.org/obo/UBERON_0004061	neural tube mantle layer		
http://purl.obolibrary.org/obo/UBERON_0009583	spinal cord mantle layer	http://purl.obolibrary.org/obo/UBERON_0004061	neural tube mantle layer		
http://purl.obolibrary.org/obo/UBERON_0013159	epithalamus mantle layer	http://purl.obolibrary.org/obo/UBERON_0004061	neural tube mantle layer		
http://purl.obolibrary.org/obo/UBERON_0034709	hindbrain marginal layer	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0005239	basal plate metencephalon	http://purl.obolibrary.org/obo/UBERON_0004064	neural tube basal plate		
http://purl.obolibrary.org/obo/UBERON_0004014	labium minora	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0004085	labium majora	http://purl.obolibrary.org/obo/UBERON_0004084	genital labium		
http://purl.obolibrary.org/obo/UBERON_0001585	anterior vena cava	http://purl.obolibrary.org/obo/UBERON_0004087	vena cava		
http://purl.obolibrary.org/obo/UBERON_0001072	inferior vena cava	http://purl.obolibrary.org/obo/UBERON_0004087	vena cava		
http://purl.obolibrary.org/obo/UBERON_0004527	alveolar process of maxilla	http://purl.obolibrary.org/obo/UBERON_0004103	alveolar ridge		
http://purl.obolibrary.org/obo/UBERON_0004528	alveolar ridge of mandible	http://purl.obolibrary.org/obo/UBERON_0004103	alveolar ridge		
http://purl.obolibrary.org/obo/UBERON_0034898	alveolar ridge of premaxilla	http://purl.obolibrary.org/obo/UBERON_0004103	alveolar ridge		
http://purl.obolibrary.org/obo/UBERON_0010185	rete ovarii	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000159	anal canal	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0003959	rete testis	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000025	tube	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0000055	vessel	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0000161	orifice	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0001131	vertebral foramen	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0001352	external acoustic meatus	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0001770	lacrimal canaliculus	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0002291	central canal of spinal cord	http://purl.obolibrary.org/obo/UBERON_0004121	ectoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003702	inguinal canal	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0004145	outflow tract	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0006010	hyaloid canal	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0006692	vertebral canal	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0009744	lymph node medullary sinus	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0011859	internal acoustic meatus	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0013704	notochordal canal	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0014538	subdivision of spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0015787	upper respiratory conduit	http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit		
http://purl.obolibrary.org/obo/UBERON_0001173	biliary tree	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0002367	prostate gland	http://purl.obolibrary.org/obo/UBERON_0010147	male accessory sex gland		
http://purl.obolibrary.org/obo/UBERON_0000077	mixed endoderm/mesoderm-derived structure	http://purl.obolibrary.org/obo/UBERON_0004120	mesoderm-derived structure		
http://purl.obolibrary.org/obo/UBERON_0002485	prostate duct	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0004185	endodermal part of digestive tract	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0000056	ureter	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0000948	heart	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0000989	penis	http://purl.obolibrary.org/obo/UBERON_0008811	intromittent organ		
http://purl.obolibrary.org/obo/UBERON_0000996	vagina	http://purl.obolibrary.org/obo/UBERON_0013515	subdivision of oviduct		
http://purl.obolibrary.org/obo/UBERON_0000998	seminal vesicle	http://purl.obolibrary.org/obo/UBERON_0006868	seminal fluid secreting gland		
http://purl.obolibrary.org/obo/UBERON_0003889	fallopian tube	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0006589	round ligament of uterus	http://purl.obolibrary.org/obo/UBERON_0008845	nonskeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0001305	ovarian follicle	http://purl.obolibrary.org/obo/UBERON_8450001	egg follicle		
http://purl.obolibrary.org/obo/UBERON_0001514	descending aorta	http://purl.obolibrary.org/obo/UBERON_0005800	section of aorta		
http://purl.obolibrary.org/obo/UBERON_0001533	subclavian artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0002063	sinus venosus	http://purl.obolibrary.org/obo/UBERON_0004151	cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0002072	hypodermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0002081	cardiac atrium	http://purl.obolibrary.org/obo/UBERON_0004151	cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0002082	cardiac ventricle	http://purl.obolibrary.org/obo/UBERON_0004151	cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0002376	cranial muscle	http://purl.obolibrary.org/obo/UBERON_0010959	craniocervical muscle		
http://purl.obolibrary.org/obo/UBERON_0004346	gubernaculum (male or female)	http://purl.obolibrary.org/obo/UBERON_0008845	nonskeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0005728	extraembryonic mesoderm	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0006904	head mesenchyme from mesoderm	http://purl.obolibrary.org/obo/UBERON_0005253	head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010335	maxillary process mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009526	maxillary process mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0011582	paired limb/fin skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0000966	retina	http://purl.obolibrary.org/obo/UBERON_0005388	photoreceptor array		
http://purl.obolibrary.org/obo/UBERON_0001017	central nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000348	ophthalmic nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0000390	lens nucleus	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0000941	cranial nerve II	http://purl.obolibrary.org/obo/UBERON_0034713	cranial neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0001608	dilatator pupillae	http://purl.obolibrary.org/obo/UBERON_0004234	iris smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0001895	metencephalon	http://purl.obolibrary.org/obo/UBERON_0004733	segmental subdivision of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0002342	neural crest	http://purl.obolibrary.org/obo/UBERON_0010316	germ layer / neural crest		
http://purl.obolibrary.org/obo/UBERON_0003052	midbrain-hindbrain boundary	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0004906	ectodermal part of digestive tract	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0005176	tooth enamel organ	http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster		
http://purl.obolibrary.org/obo/UBERON_0005290	myelencephalon	http://purl.obolibrary.org/obo/UBERON_0004733	segmental subdivision of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/CL_4023079	midbrain-derived inhibitory neuron	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/UBERON_0004124	myocardium trabecular layer	http://purl.obolibrary.org/obo/UBERON_0004123	myocardial layer		
http://purl.obolibrary.org/obo/UBERON_0004126	trabecular layer of ventricle	http://purl.obolibrary.org/obo/UBERON_0004124	myocardium trabecular layer		
http://purl.obolibrary.org/obo/UBERON_0005064	left ventricular trabecular myocardium	http://purl.obolibrary.org/obo/UBERON_0004126	trabecular layer of ventricle		
http://purl.obolibrary.org/obo/UBERON_0005066	right ventricular trabecular myocardium	http://purl.obolibrary.org/obo/UBERON_0004126	trabecular layer of ventricle		
http://purl.obolibrary.org/obo/UBERON_0002956	granular layer of cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0004130	cerebellar layer		
http://purl.obolibrary.org/obo/UBERON_0002974	molecular layer of cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0004130	cerebellar layer		
http://purl.obolibrary.org/obo/UBERON_0005151	metanephric proximal tubule	http://purl.obolibrary.org/obo/UBERON_0005146	metanephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0006173	pronephric proximal tubule	http://purl.obolibrary.org/obo/UBERON_0005310	pronephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0005129	metanephric distal tubule	http://purl.obolibrary.org/obo/UBERON_0005146	metanephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0006175	pronephric distal tubule	http://purl.obolibrary.org/obo/UBERON_0005310	pronephric nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0006207	aortico-pulmonary spiral septum	http://purl.obolibrary.org/obo/UBERON_0004142	outflow tract septum		
http://purl.obolibrary.org/obo/UBERON_0005337	outflow tract of ventricle	http://purl.obolibrary.org/obo/UBERON_0004145	outflow tract		
http://purl.obolibrary.org/obo/UBERON_0005338	outflow tract aortic component	http://purl.obolibrary.org/obo/UBERON_0004145	outflow tract		
http://purl.obolibrary.org/obo/UBERON_0005339	outflow tract pulmonary component	http://purl.obolibrary.org/obo/UBERON_0004145	outflow tract		
http://purl.obolibrary.org/obo/UBERON_0005946	outflow tract of atrium	http://purl.obolibrary.org/obo/UBERON_0004145	outflow tract		
http://purl.obolibrary.org/obo/UBERON_0003983	conus arteriosus	http://purl.obolibrary.org/obo/UBERON_0004151	cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0035553	left cardiac chamber	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0035554	right cardiac chamber	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0009196	indifferent external genitalia	http://purl.obolibrary.org/obo/UBERON_0004176	external genitalia		
http://purl.obolibrary.org/obo/UBERON_0001960	periarterial lymphatic sheath	http://purl.obolibrary.org/obo/UBERON_0010393	T cell domain		
http://purl.obolibrary.org/obo/UBERON_0004912	biliary bud	http://purl.obolibrary.org/obo/UBERON_0009854	digestive tract diverticulum		
http://purl.obolibrary.org/obo/UBERON_0008835	hepatic diverticulum	http://purl.obolibrary.org/obo/UBERON_0009854	digestive tract diverticulum		
http://purl.obolibrary.org/obo/UBERON_0008836	liver bud	http://purl.obolibrary.org/obo/UBERON_0009854	digestive tract diverticulum		
http://purl.obolibrary.org/obo/UBERON_0036072	respiratory primordium epithelium	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0004189	glomerular endothelium	http://purl.obolibrary.org/obo/UBERON_0004852	cardiovascular system endothelium		
http://purl.obolibrary.org/obo/UBERON_0005135	metanephric glomerular epithelium	http://purl.obolibrary.org/obo/UBERON_0005134	metanephric nephron epithelium		
http://purl.obolibrary.org/obo/UBERON_0005327	mesonephric glomerular epithelium	http://purl.obolibrary.org/obo/UBERON_0005330	mesonephric nephron epithelium		
http://purl.obolibrary.org/obo/UBERON_0005751	glomerular visceral epithelium	http://purl.obolibrary.org/obo/UBERON_0004188	glomerular epithelium		
http://purl.obolibrary.org/obo/UBERON_0005136	metanephric glomerular endothelium	http://purl.obolibrary.org/obo/UBERON_0005135	metanephric glomerular epithelium		
http://purl.obolibrary.org/obo/UBERON_0005133	metanephric glomerulus vasculature	http://purl.obolibrary.org/obo/UBERON_0004190	renal glomerulus vasculature		
http://purl.obolibrary.org/obo/UBERON_0005326	mesonephric glomerulus vasculature	http://purl.obolibrary.org/obo/UBERON_0004190	renal glomerulus vasculature		
http://purl.obolibrary.org/obo/UBERON_0005145	metanephric comma-shaped body	http://purl.obolibrary.org/obo/UBERON_0004198	comma-shaped body		
http://purl.obolibrary.org/obo/UBERON_0005328	mesonephric comma-shaped body	http://purl.obolibrary.org/obo/UBERON_0004198	comma-shaped body		
http://purl.obolibrary.org/obo/UBERON_0005148	metanephric S-shaped body	http://purl.obolibrary.org/obo/UBERON_0004199	S-shaped body		
http://purl.obolibrary.org/obo/UBERON_0005332	mesonephric S-shaped body	http://purl.obolibrary.org/obo/UBERON_0004199	S-shaped body		
http://purl.obolibrary.org/obo/UBERON_0005111	metanephric pyramid	http://purl.obolibrary.org/obo/UBERON_0004200	kidney pyramid		
http://purl.obolibrary.org/obo/UBERON_0005115	metanephric cortical collecting duct	http://purl.obolibrary.org/obo/UBERON_0004203	cortical collecting duct		
http://purl.obolibrary.org/obo/UBERON_0005147	metanephric renal vesicle	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0005331	mesonephric renal vesicle	http://purl.obolibrary.org/obo/UBERON_0005103	mesonephric epithelium		
http://purl.obolibrary.org/obo/UBERON_0001231	nephron tubule	http://purl.obolibrary.org/obo/UBERON_0009773	renal tubule		
http://purl.obolibrary.org/obo/UBERON_0004188	glomerular epithelium	http://purl.obolibrary.org/obo/UBERON_0004211	nephron epithelium		
http://purl.obolibrary.org/obo/UBERON_0004810	nephron tubule epithelium	http://purl.obolibrary.org/obo/UBERON_0004211	nephron epithelium		
http://purl.obolibrary.org/obo/UBERON_0005134	metanephric nephron epithelium	http://purl.obolibrary.org/obo/UBERON_0005108	metanephric epithelium		
http://purl.obolibrary.org/obo/UBERON_0005330	mesonephric nephron epithelium	http://purl.obolibrary.org/obo/UBERON_0005103	mesonephric epithelium		
http://purl.obolibrary.org/obo/UBERON_0005144	metanephric glomerular capillary	http://purl.obolibrary.org/obo/UBERON_0004212	glomerular capillary		
http://purl.obolibrary.org/obo/UBERON_0006183	mesonephric glomerular capillary	http://purl.obolibrary.org/obo/UBERON_0004212	glomerular capillary		
http://purl.obolibrary.org/obo/UBERON_0007306	pronephric glomerular capillary	http://purl.obolibrary.org/obo/UBERON_0004212	glomerular capillary		
http://purl.obolibrary.org/obo/UBERON_0018112	rectum smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0016886	muscle tissue of terminal part of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0004220	large intestine smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004221	intestine smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004239	small intestine smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004221	intestine smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004233	lower respiratory tract smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004225	respiratory system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004296	respiratory system lymphatic vessel smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004232	lymphatic vessel smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004297	respiratory system blood vessel smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004237	blood vessel smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004221	intestine smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004226	gastrointestinal system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004222	stomach smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004226	gastrointestinal system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004229	urinary bladder trigone smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004228	urinary bladder smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004230	urinary bladder neck smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004228	urinary bladder smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0003387	smooth muscle of trachea	http://purl.obolibrary.org/obo/UBERON_0004233	lower respiratory tract smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004242	bronchus smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004233	lower respiratory tract smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004515	smooth muscle tissue of bronchiole	http://purl.obolibrary.org/obo/UBERON_0004233	lower respiratory tract smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004895	alveolar smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004233	lower respiratory tract smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0002111	artery smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004695	arterial system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004178	aorta smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004695	arterial system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004236	arteriole smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004695	arterial system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004696	venous system smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004237	blood vessel smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0004241	main bronchus smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004242	bronchus smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0001350	coccyx	http://purl.obolibrary.org/obo/UBERON_0008001	irregular bone		
http://purl.obolibrary.org/obo/UBERON_0008876	hypodermis skeletal muscle layer	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0001507	biceps brachii	http://purl.obolibrary.org/obo/UBERON_0004255	forelimb stylopod muscle		
http://purl.obolibrary.org/obo/UBERON_0001665	triceps surae	http://purl.obolibrary.org/obo/UBERON_0004256	hindlimb zeugopod muscle		
http://purl.obolibrary.org/obo/UBERON_0009132	peroneus	http://purl.obolibrary.org/obo/UBERON_0004256	hindlimb zeugopod muscle		
http://purl.obolibrary.org/obo/UBERON_0007318	saphenous vein	http://purl.obolibrary.org/obo/UBERON_0035550	superficial vein		
http://purl.obolibrary.org/obo/UBERON_0000313	portion of cartilage tissue in tibia	http://purl.obolibrary.org/obo/UBERON_0007391	pelvic appendage cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0001601	extra-ocular muscle	http://purl.obolibrary.org/obo/UBERON_0010959	craniocervical muscle		
http://purl.obolibrary.org/obo/UBERON_0012416	respiratory system arterial smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004695	arterial system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0014483	distal phalanx of digit 1	http://purl.obolibrary.org/obo/UBERON_0004300	distal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014484	distal phalanx of digit 2	http://purl.obolibrary.org/obo/UBERON_0004300	distal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014485	distal phalanx of digit 3	http://purl.obolibrary.org/obo/UBERON_0004300	distal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014486	distal phalanx of digit 4	http://purl.obolibrary.org/obo/UBERON_0004300	distal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014487	distal phalanx of digit 5	http://purl.obolibrary.org/obo/UBERON_0004300	distal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014488	middle phalanx of digit 2	http://purl.obolibrary.org/obo/UBERON_0004301	middle phalanx		
http://purl.obolibrary.org/obo/UBERON_0014489	middle phalanx of digit 3	http://purl.obolibrary.org/obo/UBERON_0004301	middle phalanx		
http://purl.obolibrary.org/obo/UBERON_0014490	middle phalanx of digit 4	http://purl.obolibrary.org/obo/UBERON_0004301	middle phalanx		
http://purl.obolibrary.org/obo/UBERON_0014491	middle phalanx of digit 5	http://purl.obolibrary.org/obo/UBERON_0004301	middle phalanx		
http://purl.obolibrary.org/obo/UBERON_0014501	proximal phalanx of digit 1	http://purl.obolibrary.org/obo/UBERON_0004302	proximal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014502	proximal phalanx of digit 2	http://purl.obolibrary.org/obo/UBERON_0004302	proximal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014503	proximal phalanx of digit 3	http://purl.obolibrary.org/obo/UBERON_0004302	proximal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014504	proximal phalanx of digit 4	http://purl.obolibrary.org/obo/UBERON_0004302	proximal phalanx		
http://purl.obolibrary.org/obo/UBERON_0014505	proximal phalanx of digit 5	http://purl.obolibrary.org/obo/UBERON_0004302	proximal phalanx		
http://purl.obolibrary.org/obo/UBERON_0008843	gubernaculum testis	http://purl.obolibrary.org/obo/UBERON_0004346	gubernaculum (male or female)		
http://purl.obolibrary.org/obo/UBERON_0008844	gubernaculum (female)	http://purl.obolibrary.org/obo/UBERON_0004346	gubernaculum (male or female)		
http://purl.obolibrary.org/obo/UBERON_0005417	forelimb bud	http://purl.obolibrary.org/obo/UBERON_0005419	pectoral appendage bud		
http://purl.obolibrary.org/obo/UBERON_0005418	hindlimb bud	http://purl.obolibrary.org/obo/UBERON_0005420	pelvic appendage bud		
http://purl.obolibrary.org/obo/UBERON_0005421	pectoral appendage apical ectodermal ridge	http://purl.obolibrary.org/obo/UBERON_0004356	apical ectodermal ridge		
http://purl.obolibrary.org/obo/UBERON_0005422	pelvic appendage apical ectodermal ridge	http://purl.obolibrary.org/obo/UBERON_0004356	apical ectodermal ridge		
http://purl.obolibrary.org/obo/UBERON_0005719	footplate apical ectodermal ridge	http://purl.obolibrary.org/obo/UBERON_0004356	apical ectodermal ridge		
http://purl.obolibrary.org/obo/UBERON_0006872	handplate apical ectodermal ridge	http://purl.obolibrary.org/obo/UBERON_0004356	apical ectodermal ridge		
http://purl.obolibrary.org/obo/UBERON_0004347	limb bud	http://purl.obolibrary.org/obo/UBERON_0004357	paired limb/fin bud		
http://purl.obolibrary.org/obo/UBERON_0005419	pectoral appendage bud	http://purl.obolibrary.org/obo/UBERON_0004357	paired limb/fin bud		
http://purl.obolibrary.org/obo/UBERON_0005420	pelvic appendage bud	http://purl.obolibrary.org/obo/UBERON_0004357	paired limb/fin bud		
http://purl.obolibrary.org/obo/UBERON_0005487	vitelline vein	http://purl.obolibrary.org/obo/UBERON_0013140	systemic vein		
http://purl.obolibrary.org/obo/UBERON_2000364	hypural	http://purl.obolibrary.org/obo/UBERON_2001364	hemal spine		
http://purl.obolibrary.org/obo/UBERON_0006864	distal metaphysis of femur	http://purl.obolibrary.org/obo/UBERON_0006865	metaphysis of femur		
http://purl.obolibrary.org/obo/UBERON_0006863	proximal metaphysis of femur	http://purl.obolibrary.org/obo/UBERON_0006865	metaphysis of femur		
http://purl.obolibrary.org/obo/UBERON_0004404	distal epiphysis of humerus	http://purl.obolibrary.org/obo/UBERON_0004382	epiphysis of humerus		
http://purl.obolibrary.org/obo/UBERON_0004405	distal epiphysis of tibia	http://purl.obolibrary.org/obo/UBERON_0004383	epiphysis of tibia		
http://purl.obolibrary.org/obo/UBERON_0004406	distal epiphysis of femur	http://purl.obolibrary.org/obo/UBERON_0004384	epiphysis of femur		
http://purl.obolibrary.org/obo/UBERON_0004407	distal epiphysis of radius	http://purl.obolibrary.org/obo/UBERON_0004385	epiphysis of radius		
http://purl.obolibrary.org/obo/UBERON_0004408	distal epiphysis of ulna	http://purl.obolibrary.org/obo/UBERON_0004386	epiphysis of ulna		
http://purl.obolibrary.org/obo/UBERON_0004410	distal epiphysis of fibula	http://purl.obolibrary.org/obo/UBERON_0004388	epiphysis of fibula		
http://purl.obolibrary.org/obo/UBERON_0004448	distal epiphysis of phalanx	http://purl.obolibrary.org/obo/UBERON_0004446	epiphysis of phalanx		
http://purl.obolibrary.org/obo/UBERON_0013753	distal epiphysis of metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004390	epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004411	proximal epiphysis of humerus	http://purl.obolibrary.org/obo/UBERON_0004382	epiphysis of humerus		
http://purl.obolibrary.org/obo/UBERON_0004412	proximal epiphysis of femur	http://purl.obolibrary.org/obo/UBERON_0004384	epiphysis of femur		
http://purl.obolibrary.org/obo/UBERON_0004413	proximal epiphysis of radius	http://purl.obolibrary.org/obo/UBERON_0004385	epiphysis of radius		
http://purl.obolibrary.org/obo/UBERON_0004415	proximal epiphysis of metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004389	epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004416	proximal epiphysis of metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004390	epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004447	proximal epiphysis of phalanx	http://purl.obolibrary.org/obo/UBERON_0004446	epiphysis of phalanx		
http://purl.obolibrary.org/obo/UBERON_0006822	proximal epiphysis of ulna	http://purl.obolibrary.org/obo/UBERON_0004386	epiphysis of ulna		
http://purl.obolibrary.org/obo/UBERON_0008772	proximal epiphysis of tibia	http://purl.obolibrary.org/obo/UBERON_0004383	epiphysis of tibia		
http://purl.obolibrary.org/obo/UBERON_0008775	proximal epiphysis of fibula	http://purl.obolibrary.org/obo/UBERON_0004388	epiphysis of fibula		
http://purl.obolibrary.org/obo/UBERON_0001440	forelimb skeleton	http://purl.obolibrary.org/obo/UBERON_0007272	pectoral appendage skeleton		
http://purl.obolibrary.org/obo/UBERON_0001441	hindlimb skeleton	http://purl.obolibrary.org/obo/UBERON_0007273	pelvic appendage skeleton		
http://purl.obolibrary.org/obo/UBERON_0004409	distal epiphysis of phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004448	distal epiphysis of phalanx		
http://purl.obolibrary.org/obo/UBERON_0004414	proximal epiphysis of phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004447	proximal epiphysis of phalanx		
http://purl.obolibrary.org/obo/UBERON_0011977	epiphysis of proximal phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004387	epiphysis of phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0011978	epiphysis of middle phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004387	epiphysis of phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0011979	epiphysis of distal phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004387	epiphysis of phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004395	epiphysis of first metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004389	epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004396	epiphysis of second metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004389	epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004397	epiphysis of third metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004389	epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004398	epiphysis of fourth metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004389	epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004399	epiphysis of fifth metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004389	epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004391	epiphysis of first metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004390	epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004392	epiphysis of second metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004390	epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004393	epiphysis of third metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004390	epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004394	epiphysis of fourth metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004390	epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0011104	epiphysis of fifth metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004390	epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004422	proximal epiphysis of first metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004416	proximal epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004423	proximal epiphysis of second metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004416	proximal epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004424	proximal epiphysis of third metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004416	proximal epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004425	proximal epiphysis of fourth metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004416	proximal epiphysis of metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004427	proximal epiphysis of first metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004415	proximal epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004428	proximal epiphysis of second metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004415	proximal epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004429	proximal epiphysis of third metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004415	proximal epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004430	proximal epiphysis of fourth metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004415	proximal epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004431	proximal epiphysis of fifth metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004415	proximal epiphysis of metatarsal bone		
http://purl.obolibrary.org/obo/UBERON_0004401	bone tissue of distal epiphysis	http://purl.obolibrary.org/obo/UBERON_0004400	bone tissue of epiphysis		
http://purl.obolibrary.org/obo/UBERON_0004402	bone tissue of proximal epiphysis	http://purl.obolibrary.org/obo/UBERON_0004400	bone tissue of epiphysis		
http://purl.obolibrary.org/obo/UBERON_0014886	distal epiphysis of distal phalanx of manual digit	http://purl.obolibrary.org/obo/UBERON_0014887	distal epiphysis of distal phalanx of digit		
http://purl.obolibrary.org/obo/UBERON_0004417	proximal epiphysis of phalanx of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0004414	proximal epiphysis of phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004418	proximal epiphysis of phalanx of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0004414	proximal epiphysis of phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004419	proximal epiphysis of phalanx of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0004414	proximal epiphysis of phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004420	proximal epiphysis of phalanx of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0004414	proximal epiphysis of phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004421	proximal epiphysis of phalanx of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0004414	proximal epiphysis of phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004426	proximal epiphysis of fifth metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0011104	epiphysis of fifth metacarpal bone		
http://purl.obolibrary.org/obo/UBERON_0004444	proximal epiphysis of distal phalanx of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0011979	epiphysis of distal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004445	proximal epiphysis of proximal phalanx of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0011977	epiphysis of proximal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004432	proximal epiphysis of distal phalanx of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0011979	epiphysis of distal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004436	proximal epiphysis of middle phalanx of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0011978	epiphysis of middle phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004440	proximal epiphysis of proximal phalanx of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0011977	epiphysis of proximal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004433	proximal epiphysis of distal phalanx of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0011979	epiphysis of distal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004437	proximal epiphysis of middle phalanx of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0011978	epiphysis of middle phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004441	proximal epiphysis of proximal phalanx of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0011977	epiphysis of proximal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004434	proximal epiphysis of distal phalanx of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0011979	epiphysis of distal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004438	proximal epiphysis of middle phalanx of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0011978	epiphysis of middle phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004442	proximal epiphysis of proximal phalanx of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0011977	epiphysis of proximal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004435	proximal epiphysis of distal phalanx of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0011979	epiphysis of distal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004439	proximal epiphysis of middle phalanx of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0011978	epiphysis of middle phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004443	proximal epiphysis of proximal phalanx of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0011977	epiphysis of proximal phalanx of manus		
http://purl.obolibrary.org/obo/UBERON_0004387	epiphysis of phalanx of manus	http://purl.obolibrary.org/obo/UBERON_0004446	epiphysis of phalanx		
http://purl.obolibrary.org/obo/UBERON_0011974	epiphysis of proximal phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0011973	epiphysis of phalanx of pes		
http://purl.obolibrary.org/obo/UBERON_0011975	epiphysis of middle phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0011973	epiphysis of phalanx of pes		
http://purl.obolibrary.org/obo/UBERON_0011976	epiphysis of distal phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0011973	epiphysis of phalanx of pes		
http://purl.obolibrary.org/obo/UBERON_0013121	proximal epiphysis of phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0011973	epiphysis of phalanx of pes		
http://purl.obolibrary.org/obo/UBERON_0013122	distal epiphysis of phalanx of pes	http://purl.obolibrary.org/obo/UBERON_0011973	epiphysis of phalanx of pes		
http://purl.obolibrary.org/obo/UBERON_0014887	distal epiphysis of distal phalanx of digit	http://purl.obolibrary.org/obo/UBERON_0004448	distal epiphysis of phalanx		
http://purl.obolibrary.org/obo/UBERON_0004463	musculature of hindlimb stylopod	http://purl.obolibrary.org/obo/UBERON_0004466	musculature of leg		
http://purl.obolibrary.org/obo/UBERON_0006067	musculature of hindlimb zeugopod	http://purl.obolibrary.org/obo/UBERON_0004466	musculature of leg		
http://purl.obolibrary.org/obo/UBERON_0004487	musculature of forelimb zeugopod	http://purl.obolibrary.org/obo/UBERON_0004474	musculature of arm		
http://purl.obolibrary.org/obo/UBERON_0014791	musculature of forelimb stylopod	http://purl.obolibrary.org/obo/UBERON_0004474	musculature of arm		
http://purl.obolibrary.org/obo/UBERON_0002343	abdomen musculature	http://purl.obolibrary.org/obo/UBERON_0004479	musculature of trunk		
http://purl.obolibrary.org/obo/UBERON_0004464	musculature of thorax	http://purl.obolibrary.org/obo/UBERON_0004479	musculature of trunk		
http://purl.obolibrary.org/obo/UBERON_0004470	musculature of pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0014792	musculature of pelvic complex		
http://purl.obolibrary.org/obo/UBERON_0004481	musculature of upper limb	http://purl.obolibrary.org/obo/UBERON_0007269	pectoral appendage musculature		
http://purl.obolibrary.org/obo/UBERON_0004482	musculature of lower limb	http://purl.obolibrary.org/obo/UBERON_0007270	pelvic appendage musculature		
http://purl.obolibrary.org/obo/UBERON_0004474	musculature of arm	http://purl.obolibrary.org/obo/UBERON_0004481	musculature of upper limb		
http://purl.obolibrary.org/obo/UBERON_0004489	musculature of manus	http://purl.obolibrary.org/obo/UBERON_0004481	musculature of upper limb		
http://purl.obolibrary.org/obo/UBERON_0004466	musculature of leg	http://purl.obolibrary.org/obo/UBERON_0004482	musculature of lower limb		
http://purl.obolibrary.org/obo/UBERON_0004488	musculature of pes	http://purl.obolibrary.org/obo/UBERON_0004482	musculature of lower limb		
http://purl.obolibrary.org/obo/UBERON_0003379	cardiac muscle of right atrium	http://purl.obolibrary.org/obo/UBERON_0004490	cardiac muscle tissue of atrium		
http://purl.obolibrary.org/obo/UBERON_0003380	cardiac muscle of left atrium	http://purl.obolibrary.org/obo/UBERON_0004490	cardiac muscle tissue of atrium		
http://purl.obolibrary.org/obo/UBERON_0002352	atrioventricular node	http://purl.obolibrary.org/obo/UBERON_0010131	conducting tissue of heart		
http://purl.obolibrary.org/obo/UBERON_0003383	cardiac muscle tissue of interventricular septum	http://purl.obolibrary.org/obo/UBERON_0004667	interventricular septum muscular part		
http://purl.obolibrary.org/obo/UBERON_0004491	cardiac muscle tissue of interatrial septum	http://purl.obolibrary.org/obo/UBERON_0004492	cardiac muscle tissue of cardiac septum		
http://purl.obolibrary.org/obo/UBERON_0002350	conducting system of heart	http://purl.obolibrary.org/obo/UBERON_0010131	conducting tissue of heart		
http://purl.obolibrary.org/obo/UBERON_0004490	cardiac muscle tissue of atrium	http://purl.obolibrary.org/obo/UBERON_0004493	cardiac muscle tissue of myocardium		
http://purl.obolibrary.org/obo/UBERON_0018649	cardiac muscle tissue of ventricle	http://purl.obolibrary.org/obo/UBERON_0004493	cardiac muscle tissue of myocardium		
http://purl.obolibrary.org/obo/UBERON_8600003	smooth muscle tissue of lobular bronchiole	http://purl.obolibrary.org/obo/UBERON_0004515	smooth muscle tissue of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0004516	smooth muscle tissue of terminal bronchiole	http://purl.obolibrary.org/obo/UBERON_0004515	smooth muscle tissue of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0004517	smooth muscle tissue of respiratory bronchiole	http://purl.obolibrary.org/obo/UBERON_0004515	smooth muscle tissue of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0003665	post-anal tail muscle	http://purl.obolibrary.org/obo/UBERON_0004518	muscle of vertebral column		
http://purl.obolibrary.org/obo/UBERON_0001734	palatine uvula	http://purl.obolibrary.org/obo/UBERON_0004529	anatomical projection		
http://purl.obolibrary.org/obo/UBERON_0005813	tubercle	http://purl.obolibrary.org/obo/UBERON_0004529	anatomical projection		
http://purl.obolibrary.org/obo/UBERON_0011769	cartilaginous projection	http://purl.obolibrary.org/obo/UBERON_0004529	anatomical projection		
http://purl.obolibrary.org/obo/UBERON_0013703	integumentary projection	http://purl.obolibrary.org/obo/UBERON_0006003	integumentary adnexa		
http://purl.obolibrary.org/obo/UBERON_4100000	skeletal element projection	http://purl.obolibrary.org/obo/UBERON_0004529	anatomical projection		
http://purl.obolibrary.org/obo/UBERON_0002497	acromion	http://purl.obolibrary.org/obo/UBERON_0004530	bony projection		
http://purl.obolibrary.org/obo/UBERON_0001593	venous plexus	http://purl.obolibrary.org/obo/UBERON_0005629	vascular plexus		
http://purl.obolibrary.org/obo/UBERON_0005396	carotid artery segment	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0001529	brachiocephalic artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0001530	common carotid artery plus branches	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0001628	posterior communicating artery	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001640	celiac artery	http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery		
http://purl.obolibrary.org/obo/UBERON_0002040	bronchial artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0002057	phrenic artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0002456	internal thoracic artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0002458	spinal artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0003468	ureteric segment of renal artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0003709	circle of Willis	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0004449	cerebral artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0005436	common hepatic artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0005609	iliac artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_2001053	future internal carotid artery	http://purl.obolibrary.org/obo/UBERON_0004573	systemic artery		
http://purl.obolibrary.org/obo/UBERON_0005720	hindbrain venous system	http://purl.obolibrary.org/obo/UBERON_0004582	venous system		
http://purl.obolibrary.org/obo/UBERON_0014699	extraembryonic venous system	http://purl.obolibrary.org/obo/UBERON_0014701	extraembryonic vascular system		
http://purl.obolibrary.org/obo/UBERON_0004916	anal sphincter	http://purl.obolibrary.org/obo/UBERON_0004590	sphincter muscle		
http://purl.obolibrary.org/obo/UBERON_0007521	smooth muscle sphincter	http://purl.obolibrary.org/obo/UBERON_0004590	sphincter muscle		
http://purl.obolibrary.org/obo/UBERON_0007522	striated muscle sphincter	http://purl.obolibrary.org/obo/UBERON_0004590	sphincter muscle		
http://purl.obolibrary.org/obo/UBERON_0011185	gastrointestinal sphincter	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0012487	vaginal sphincter	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0013501	cloacal sphincter	http://purl.obolibrary.org/obo/UBERON_0014783	cloacal muscle		
http://purl.obolibrary.org/obo/UBERON_0010349	otic capsule pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0004637	otic capsule		
http://purl.obolibrary.org/obo/UBERON_0001919	endothelium of vein	http://purl.obolibrary.org/obo/UBERON_0004701	venous system endothelium		
http://purl.obolibrary.org/obo/UBERON_0004702	respiratory system blood vessel endothelium	http://purl.obolibrary.org/obo/UBERON_0004807	respiratory system epithelium		
http://purl.obolibrary.org/obo/UBERON_0004851	aorta endothelium	http://purl.obolibrary.org/obo/UBERON_0004700	arterial system endothelium		
http://purl.obolibrary.org/obo/UBERON_0008339	microvascular endothelium	http://purl.obolibrary.org/obo/UBERON_0004852	cardiovascular system endothelium		
http://purl.obolibrary.org/obo/UBERON_0005357	brain ependyma	http://purl.obolibrary.org/obo/UBERON_0004670	ependyma		
http://purl.obolibrary.org/obo/UBERON_0005359	spinal cord ependyma	http://purl.obolibrary.org/obo/UBERON_0004670	ependyma		
http://purl.obolibrary.org/obo/UBERON_0012418	respiratory system venous smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004696	venous system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_8480068	saphenous vein smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004696	venous system smooth muscle		
http://purl.obolibrary.org/obo/UBERON_0001916	endothelium of arteriole	http://purl.obolibrary.org/obo/UBERON_0008339	microvascular endothelium		
http://purl.obolibrary.org/obo/UBERON_0001918	endothelium of venule	http://purl.obolibrary.org/obo/UBERON_0008339	microvascular endothelium		
http://purl.obolibrary.org/obo/UBERON_7500103	preorbital fossa	http://purl.obolibrary.org/obo/UBERON_0004704	bone fossa		
http://purl.obolibrary.org/obo/UBERON_0006657	glenoid fossa	http://purl.obolibrary.org/obo/UBERON_0004704	bone fossa		
http://purl.obolibrary.org/obo/UBERON_0008789	cranial fossa	http://purl.obolibrary.org/obo/UBERON_0004704	bone fossa		
http://purl.obolibrary.org/obo/UBERON_0002101	limb	http://purl.obolibrary.org/obo/UBERON_0004708	paired limb/fin		
http://purl.obolibrary.org/obo/UBERON_0004709	pelvic appendage	http://purl.obolibrary.org/obo/UBERON_0004708	paired limb/fin		
http://purl.obolibrary.org/obo/UBERON_0004710	pectoral appendage	http://purl.obolibrary.org/obo/UBERON_0004708	paired limb/fin		
http://purl.obolibrary.org/obo/UBERON_2001269	regenerating fin/limb	http://purl.obolibrary.org/obo/UBERON_0007567	regenerating anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0001586	internal jugular vein	http://purl.obolibrary.org/obo/UBERON_0004711	jugular vein		
http://purl.obolibrary.org/obo/UBERON_0001892	rhombomere	http://purl.obolibrary.org/obo/UBERON_0004731	neuromere		
http://purl.obolibrary.org/obo/UBERON_0014775	prosomere	http://purl.obolibrary.org/obo/UBERON_0004731	neuromere		
http://purl.obolibrary.org/obo/UBERON_0014776	midbrain neuromere	http://purl.obolibrary.org/obo/UBERON_0004731	neuromere		
http://purl.obolibrary.org/obo/UBERON_0014777	spinal neuromere	http://purl.obolibrary.org/obo/UBERON_0004731	neuromere		
http://purl.obolibrary.org/obo/UBERON_0004731	neuromere	http://purl.obolibrary.org/obo/UBERON_0004732	segmental subdivision of nervous system		
http://purl.obolibrary.org/obo/UBERON_0004733	segmental subdivision of hindbrain	http://purl.obolibrary.org/obo/UBERON_0004732	segmental subdivision of nervous system		
http://purl.obolibrary.org/obo/UBERON_0002418	cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0004755	skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_0002481	bone tissue	http://purl.obolibrary.org/obo/UBERON_0004755	skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_0010365	odontoid tissue	http://purl.obolibrary.org/obo/UBERON_0004755	skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_4000013	mineralized skeletal tissue	http://purl.obolibrary.org/obo/UBERON_0004755	skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_0008907	dermal bone	http://purl.obolibrary.org/obo/UBERON_0007842	membrane bone		
http://purl.obolibrary.org/obo/UBERON_0004759	cranial salt gland	http://purl.obolibrary.org/obo/UBERON_0004758	salt gland		
http://purl.obolibrary.org/obo/UBERON_0036266	pars interarticularis of vertebra	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0001474	bone element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0003913	tooth-like structure	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0004753	scapulocoracoid	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0004756	dermal skeletal element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0010321	skeletal element of eye region	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0010358	arch of centrum of vertebra	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0010522	replacement element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0010911	ossicle	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0016491	vertebral centrum element	http://purl.obolibrary.org/obo/UBERON_0004765	skeletal element		
http://purl.obolibrary.org/obo/UBERON_0004742	dentary	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001010	diaphysis of ulna	http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis		
http://purl.obolibrary.org/obo/UBERON_0001028	diaphysis of radius	http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis		
http://purl.obolibrary.org/obo/UBERON_0004652	humerus diaphysis	http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis		
http://purl.obolibrary.org/obo/UBERON_0006862	diaphysis of femur	http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis		
http://purl.obolibrary.org/obo/UBERON_0013279	diaphysis of fibula	http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis		
http://purl.obolibrary.org/obo/UBERON_0013280	diaphysis of tibia	http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis		
http://purl.obolibrary.org/obo/UBERON_0013752	diaphysis of metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis		
http://purl.obolibrary.org/obo/UBERON_0013774	diaphysis of metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis		
http://purl.obolibrary.org/obo/UBERON_0004773	superior eyelid tarsus	http://purl.obolibrary.org/obo/UBERON_0004772	eyelid tarsus		
http://purl.obolibrary.org/obo/UBERON_0004774	inferior eyelid tarsus	http://purl.obolibrary.org/obo/UBERON_0004772	eyelid tarsus		
http://purl.obolibrary.org/obo/UBERON_0001957	submucosa of bronchus	http://purl.obolibrary.org/obo/UBERON_0004777	respiratory system submucosa		
http://purl.obolibrary.org/obo/UBERON_0002202	submucosa of trachea	http://purl.obolibrary.org/obo/UBERON_0004777	respiratory system submucosa		
http://purl.obolibrary.org/obo/UBERON_0004778	larynx submucosa	http://purl.obolibrary.org/obo/UBERON_0004777	respiratory system submucosa		
http://purl.obolibrary.org/obo/UBERON_0004924	submucosa of pharynx	http://purl.obolibrary.org/obo/UBERON_0018257	submucosa of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0004952	submucosa of bronchiole	http://purl.obolibrary.org/obo/UBERON_0004777	respiratory system submucosa		
http://purl.obolibrary.org/obo/UBERON_0000031	lamina propria of trachea	http://purl.obolibrary.org/obo/UBERON_0004779	respiratory system lamina propria		
http://purl.obolibrary.org/obo/UBERON_0001238	lamina propria of small intestine	http://purl.obolibrary.org/obo/UBERON_0004780	gastrointestinal system lamina propria		
http://purl.obolibrary.org/obo/UBERON_0011189	lamina propria of large intestine	http://purl.obolibrary.org/obo/UBERON_0004780	gastrointestinal system lamina propria		
http://purl.obolibrary.org/obo/UBERON_8600138	stomach lamina propria	http://purl.obolibrary.org/obo/UBERON_0004780	gastrointestinal system lamina propria		
http://purl.obolibrary.org/obo/UBERON_0001201	serosa of stomach	http://purl.obolibrary.org/obo/UBERON_0004782	gastrointestinal system serosa		
http://purl.obolibrary.org/obo/UBERON_0001243	serosa of intestine	http://purl.obolibrary.org/obo/UBERON_0004782	gastrointestinal system serosa		
http://purl.obolibrary.org/obo/UBERON_0036285	wall of left ventricle	http://purl.obolibrary.org/obo/UBERON_0004784	heart ventricle wall		
http://purl.obolibrary.org/obo/UBERON_0036286	wall of right ventricle	http://purl.obolibrary.org/obo/UBERON_0004784	heart ventricle wall		
http://purl.obolibrary.org/obo/UBERON_0000355	pharyngeal mucosa	http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa		
http://purl.obolibrary.org/obo/UBERON_0000379	tracheal mucosa	http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa		
http://purl.obolibrary.org/obo/UBERON_0000410	bronchial mucosa	http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa		
http://purl.obolibrary.org/obo/UBERON_0001824	mucosa of larynx	http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa		
http://purl.obolibrary.org/obo/UBERON_0001826	nasal cavity mucosa	http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa		
http://purl.obolibrary.org/obo/UBERON_0005039	mucosa of bronchiole	http://purl.obolibrary.org/obo/UBERON_0004785	respiratory system mucosa		
http://purl.obolibrary.org/obo/UBERON_0001199	mucosa of stomach	http://purl.obolibrary.org/obo/UBERON_0004786	gastrointestinal system mucosa		
http://purl.obolibrary.org/obo/UBERON_0001242	intestinal mucosa	http://purl.obolibrary.org/obo/UBERON_0004786	gastrointestinal system mucosa		
http://purl.obolibrary.org/obo/UBERON_0015777	transitional epithelium of prostatic urethra	http://purl.obolibrary.org/obo/UBERON_0016510	epithelium of male urethra		
http://purl.obolibrary.org/obo/UBERON_0004792	secretion of endocrine pancreas	http://purl.obolibrary.org/obo/UBERON_0004795	pancreas secretion		
http://purl.obolibrary.org/obo/UBERON_0004793	secretion of exocrine pancreas	http://purl.obolibrary.org/obo/UBERON_0004795	pancreas secretion		
http://purl.obolibrary.org/obo/UBERON_0002522	tunica media	http://purl.obolibrary.org/obo/UBERON_0004797	blood vessel layer		
http://purl.obolibrary.org/obo/UBERON_0005734	tunica adventitia of blood vessel	http://purl.obolibrary.org/obo/UBERON_0005742	adventitia		
http://purl.obolibrary.org/obo/UBERON_0006922	cervix squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0010304	non-keratinized stratified squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0012250	cervix glandular epithelium	http://purl.obolibrary.org/obo/UBERON_0006799	glandular epithelium		
http://purl.obolibrary.org/obo/UBERON_0012251	ectocervical epithelium	http://purl.obolibrary.org/obo/UBERON_0004801	cervix epithelium		
http://purl.obolibrary.org/obo/UBERON_0012253	cervical squamo-columnar junction	http://purl.obolibrary.org/obo/UBERON_0004801	cervix epithelium		
http://purl.obolibrary.org/obo/UBERON_0004814	upper respiratory tract epithelium	http://purl.obolibrary.org/obo/UBERON_0004802	respiratory tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0004815	lower respiratory tract epithelium	http://purl.obolibrary.org/obo/UBERON_0004802	respiratory tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0004816	larynx epithelium	http://purl.obolibrary.org/obo/UBERON_0004802	respiratory tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0004812	male prepuce epithelium	http://purl.obolibrary.org/obo/UBERON_0004803	penis epithelium		
http://purl.obolibrary.org/obo/UBERON_0006955	uterine epithelium	http://purl.obolibrary.org/obo/UBERON_0004804	oviduct epithelium		
http://purl.obolibrary.org/obo/UBERON_0007589	ciliated columnar oviduct epithelium	http://purl.obolibrary.org/obo/UBERON_0007592	ciliated columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0007590	cuboidal oviduct epithelium	http://purl.obolibrary.org/obo/UBERON_0010077	cuboidal epithelium		
http://purl.obolibrary.org/obo/UBERON_0004802	respiratory tract epithelium	http://purl.obolibrary.org/obo/UBERON_0010499	pseudostratified ciliated columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0003361	epithelium of sublingual gland	http://purl.obolibrary.org/obo/UBERON_0004809	salivary gland epithelium		
http://purl.obolibrary.org/obo/UBERON_0015766	epithelium of duct of salivary gland	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0008404	proximal tubular epithelium	http://purl.obolibrary.org/obo/UBERON_0004810	nephron tubule epithelium		
http://purl.obolibrary.org/obo/UBERON_0008408	distal tubular epithelium	http://purl.obolibrary.org/obo/UBERON_0004810	nephron tubule epithelium		
http://purl.obolibrary.org/obo/UBERON_0012276	endometrium glandular epithelium	http://purl.obolibrary.org/obo/UBERON_0007592	ciliated columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0022355	basal layer of endometrium	http://purl.obolibrary.org/obo/UBERON_0004811	endometrium epithelium		
http://purl.obolibrary.org/obo/UBERON_0022356	outer layer of endometrium	http://purl.obolibrary.org/obo/UBERON_0004811	endometrium epithelium		
http://purl.obolibrary.org/obo/UBERON_0000115	lung epithelium	http://purl.obolibrary.org/obo/UBERON_0004815	lower respiratory tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0008397	tracheobronchial epithelium	http://purl.obolibrary.org/obo/UBERON_0004815	lower respiratory tract epithelium		
http://purl.obolibrary.org/obo/UBERON_0004211	nephron epithelium	http://purl.obolibrary.org/obo/UBERON_0004819	kidney epithelium		
http://purl.obolibrary.org/obo/UBERON_0005103	mesonephric epithelium	http://purl.obolibrary.org/obo/UBERON_0004819	kidney epithelium		
http://purl.obolibrary.org/obo/UBERON_0005108	metanephric epithelium	http://purl.obolibrary.org/obo/UBERON_0004819	kidney epithelium		
http://purl.obolibrary.org/obo/UBERON_0004822	extrahepatic bile duct epithelium	http://purl.obolibrary.org/obo/UBERON_0004820	bile duct epithelium		
http://purl.obolibrary.org/obo/UBERON_0004823	intrahepatic bile duct epithelium	http://purl.obolibrary.org/obo/UBERON_0004820	bile duct epithelium		
http://purl.obolibrary.org/obo/UBERON_0003384	skeletal muscle tissue of pharynx	http://purl.obolibrary.org/obo/UBERON_0004830	respiratory system skeletal muscle		
http://purl.obolibrary.org/obo/UBERON_0002042	lymphatic vessel endothelium	http://purl.obolibrary.org/obo/UBERON_0004852	cardiovascular system endothelium		
http://purl.obolibrary.org/obo/UBERON_0004638	blood vessel endothelium	http://purl.obolibrary.org/obo/UBERON_0004852	cardiovascular system endothelium		
http://purl.obolibrary.org/obo/UBERON_0004700	arterial system endothelium	http://purl.obolibrary.org/obo/UBERON_0004852	cardiovascular system endothelium		
http://purl.obolibrary.org/obo/UBERON_0004701	venous system endothelium	http://purl.obolibrary.org/obo/UBERON_0004852	cardiovascular system endothelium		
http://purl.obolibrary.org/obo/UBERON_0008307	heart endothelium	http://purl.obolibrary.org/obo/UBERON_0004852	cardiovascular system endothelium		
http://purl.obolibrary.org/obo/UBERON_0003281	mesentery of stomach	http://purl.obolibrary.org/obo/UBERON_0004854	gastrointestinal system mesentery		
http://purl.obolibrary.org/obo/UBERON_0013229	eyelid gland	http://purl.obolibrary.org/obo/UBERON_0015152	gland of ocular region		
http://purl.obolibrary.org/obo/UBERON_0004884	lobar bronchus mesenchyme	http://purl.obolibrary.org/obo/UBERON_0004883	lung mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009602	left lung associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0004883	lung mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009603	right lung associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0004883	lung mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0004901	right lung lobar bronchus mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009603	right lung associated mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0004886	lung hilus	http://purl.obolibrary.org/obo/UBERON_0004885	hilum		
http://purl.obolibrary.org/obo/UBERON_0001248	hilum of spleen	http://purl.obolibrary.org/obo/UBERON_0004885	hilum		
http://purl.obolibrary.org/obo/UBERON_0008716	hilum of kidney	http://purl.obolibrary.org/obo/UBERON_0004885	hilum		
http://purl.obolibrary.org/obo/UBERON_0003820	prostate bud	http://purl.obolibrary.org/obo/UBERON_0005153	epithelial bud		
http://purl.obolibrary.org/obo/UBERON_0000982	skeletal joint	http://purl.obolibrary.org/obo/UBERON_0004905	articulation		
http://purl.obolibrary.org/obo/UBERON_0012287	Rathkes pouch epithelium	http://purl.obolibrary.org/obo/UBERON_0011642	oral epithelium from ectoderm		
http://purl.obolibrary.org/obo/UBERON_0004910	epithelium of male gonad	http://purl.obolibrary.org/obo/UBERON_0004909	epithelium of gonad		
http://purl.obolibrary.org/obo/UBERON_0004911	epithelium of female gonad	http://purl.obolibrary.org/obo/UBERON_0004909	epithelium of gonad		
http://purl.obolibrary.org/obo/UBERON_0010141	primitive sex cord of indifferent gonad	http://purl.obolibrary.org/obo/UBERON_0005295	sex cord		
http://purl.obolibrary.org/obo/UBERON_0004805	seminal vesicle epithelium	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0005297	testis sex cord	http://purl.obolibrary.org/obo/UBERON_0005295	sex cord		
http://purl.obolibrary.org/obo/UBERON_0005296	ovary sex cord	http://purl.obolibrary.org/obo/UBERON_0005295	sex cord		
http://purl.obolibrary.org/obo/UBERON_0004919	external urethral sphincter	http://purl.obolibrary.org/obo/UBERON_0004917	urethral sphincter		
http://purl.obolibrary.org/obo/UBERON_0011379	male external urethral sphincter	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0011380	female external urethral sphincter	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0000059	large intestine	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0000160	intestine	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0000165	mouth	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0000945	stomach	http://purl.obolibrary.org/obo/UBERON_0010039	food storage organ		
http://purl.obolibrary.org/obo/UBERON_0001052	rectum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0001155	colon	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0002108	small intestine	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0002114	duodenum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0002115	jejunum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0002116	ileum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0006562	pharynx	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0000168	proximal-distal subdivision of colon	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0001041	foregut	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0001045	midgut	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0001046	hindgut	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0004907	lower digestive tract	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0004908	upper digestive tract	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0006866	terminal part of digestive tract	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0009854	digestive tract diverticulum	http://purl.obolibrary.org/obo/UBERON_0009856	sac		
http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0012273	periampullary region of duodenum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0012652	colorectum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0013472	upper esophagus	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_8410050	anorectum	http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0000304	tendon sheath	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0001296	myometrium	http://purl.obolibrary.org/obo/UBERON_0034933	layer of smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0001768	uvea	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0002067	dermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0000009	submucosa	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0000030	lamina propria	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0000158	membranous layer	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0000344	mucosa	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0001213	intestinal villus	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0002400	parietal pleura	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0002523	tunica intima	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0004797	blood vessel layer	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0005283	tela choroidea	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0005358	ventricle of nervous system	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0005388	photoreceptor array	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0005742	adventitia	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0005983	heart layer	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat	http://purl.obolibrary.org/obo/UBERON_0018260	layer of muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0010291	layer of sclera	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0010507	layer of dura mater	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0011234	fibrous membrane of synovial tendon sheath	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0012375	subserosa	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0012430	tunica fibrosa of eyeball	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0013399	blood vessel layer of choroid	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0018260	layer of muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0022350	visceral serous membrane	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0022351	parietal serous membrane	http://purl.obolibrary.org/obo/UBERON_0004923	organ component layer		
http://purl.obolibrary.org/obo/UBERON_0004925	submucosa of laryngopharynx	http://purl.obolibrary.org/obo/UBERON_0004924	submucosa of pharynx		
http://purl.obolibrary.org/obo/UBERON_0004936	submucosa of pyloric antrum	http://purl.obolibrary.org/obo/UBERON_0004937	submucosa of pylorus		
http://purl.obolibrary.org/obo/UBERON_0004926	submucosa of cystic duct	http://purl.obolibrary.org/obo/UBERON_0004938	submucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0004939	submucosa of common bile duct	http://purl.obolibrary.org/obo/UBERON_0004938	submucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0004940	submucosa of common hepatic duct	http://purl.obolibrary.org/obo/UBERON_0004938	submucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0004941	submucosa of right hepatic duct	http://purl.obolibrary.org/obo/UBERON_0004938	submucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0004942	submucosa of left hepatic duct	http://purl.obolibrary.org/obo/UBERON_0004938	submucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0004944	submucosa of trigone of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0004943	submucosa of urinary bladder		
http://purl.obolibrary.org/obo/UBERON_0004945	submucosa of neck of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0004943	submucosa of urinary bladder		
http://purl.obolibrary.org/obo/UBERON_0004947	submucosa of right main bronchus	http://purl.obolibrary.org/obo/UBERON_0004949	submucosa of main bronchus		
http://purl.obolibrary.org/obo/UBERON_0004948	submucosa of left main bronchus	http://purl.obolibrary.org/obo/UBERON_0004949	submucosa of main bronchus		
http://purl.obolibrary.org/obo/UBERON_0005004	mucosa of right ureter	http://purl.obolibrary.org/obo/UBERON_0004980	mucosa of ureter		
http://purl.obolibrary.org/obo/UBERON_0005005	mucosa of left ureter	http://purl.obolibrary.org/obo/UBERON_0004980	mucosa of ureter		
http://purl.obolibrary.org/obo/UBERON_0004982	mucosa of epiglottis	http://purl.obolibrary.org/obo/UBERON_0004987	mucosa of laryngopharynx		
http://purl.obolibrary.org/obo/UBERON_0004997	mucosa of pyloric antrum	http://purl.obolibrary.org/obo/UBERON_0004998	mucosa of pylorus		
http://purl.obolibrary.org/obo/UBERON_0004988	mucosa of cystic duct	http://purl.obolibrary.org/obo/UBERON_0004999	mucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0005000	mucosa of common bile duct	http://purl.obolibrary.org/obo/UBERON_0004999	mucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0005001	mucosa of common hepatic duct	http://purl.obolibrary.org/obo/UBERON_0004999	mucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0005002	mucosa of right hepatic duct	http://purl.obolibrary.org/obo/UBERON_0004999	mucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0005003	mucosa of left hepatic duct	http://purl.obolibrary.org/obo/UBERON_0004999	mucosa of biliary tree		
http://purl.obolibrary.org/obo/UBERON_0005015	mucosa of prostatic urethra	http://purl.obolibrary.org/obo/UBERON_0005013	mucosa of male urethra		
http://purl.obolibrary.org/obo/UBERON_0005024	mucosa of soft palate	http://purl.obolibrary.org/obo/UBERON_0005019	mucosa of palate		
http://purl.obolibrary.org/obo/UBERON_0005046	mucosa of hard palate	http://purl.obolibrary.org/obo/UBERON_0005019	mucosa of palate		
http://purl.obolibrary.org/obo/UBERON_0010052	mucosa of dorsum of tongue	http://purl.obolibrary.org/obo/UBERON_0005020	mucosa of tongue		
http://purl.obolibrary.org/obo/UBERON_0005025	mucosa of uvula	http://purl.obolibrary.org/obo/UBERON_0005024	mucosa of soft palate		
http://purl.obolibrary.org/obo/UBERON_0005044	mucosa of pharyngotympanic tube	http://purl.obolibrary.org/obo/UBERON_0005026	mucosa of middle ear		
http://purl.obolibrary.org/obo/UBERON_0005034	mucosa of right main bronchus	http://purl.obolibrary.org/obo/UBERON_0005036	mucosa of main bronchus		
http://purl.obolibrary.org/obo/UBERON_0005035	mucosa of left main bronchus	http://purl.obolibrary.org/obo/UBERON_0005036	mucosa of main bronchus		
http://purl.obolibrary.org/obo/UBERON_8600002	mucosa of lobular bronchiole	http://purl.obolibrary.org/obo/UBERON_0005039	mucosa of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0005040	mucosa of terminal bronchiole	http://purl.obolibrary.org/obo/UBERON_0005039	mucosa of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0005041	mucosa of respiratory bronchiole	http://purl.obolibrary.org/obo/UBERON_0005039	mucosa of bronchiole		
http://purl.obolibrary.org/obo/UBERON_0005017	mucosa of lacrimal sac	http://purl.obolibrary.org/obo/UBERON_0005043	mucosa of nasolacrimal duct		
http://purl.obolibrary.org/obo/UBERON_0005011	mucosa of right fallopian tube	http://purl.obolibrary.org/obo/UBERON_0005048	mucosa of fallopian tube		
http://purl.obolibrary.org/obo/UBERON_0005012	mucosa of left fallopian tube	http://purl.obolibrary.org/obo/UBERON_0005048	mucosa of fallopian tube		
http://purl.obolibrary.org/obo/UBERON_0006810	olecranon	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0000199	neck of radius	http://purl.obolibrary.org/obo/UBERON_0018664	neck of bone element		
http://purl.obolibrary.org/obo/UBERON_0001437	epiphysis	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0001438	metaphysis	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0004769	diaphysis	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0006767	head of femur	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0006861	diaphysis proper	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0007119	neck of femur	http://purl.obolibrary.org/obo/UBERON_0018664	neck of bone element		
http://purl.obolibrary.org/obo/UBERON_0012291	lateral malleolus of fibula	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0013069	popliteal area	http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone		
http://purl.obolibrary.org/obo/UBERON_0016497	epicondyle of humerus	http://purl.obolibrary.org/obo/UBERON_0009978	epicondyle		
http://purl.obolibrary.org/obo/UBERON_0018673	neck of fibula	http://purl.obolibrary.org/obo/UBERON_0018664	neck of bone element		
http://purl.obolibrary.org/obo/UBERON_4200172	neck of humerus	http://purl.obolibrary.org/obo/UBERON_0018664	neck of bone element		
http://purl.obolibrary.org/obo/UBERON_0009974	lumen of Rathke's pouch	http://purl.obolibrary.org/obo/UBERON_0007473	lumen of epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0011574	mesonephric duct lumen	http://purl.obolibrary.org/obo/UBERON_0005082	tube lumen		
http://purl.obolibrary.org/obo/UBERON_0002546	cranial placode	http://purl.obolibrary.org/obo/UBERON_0005085	ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0011814	non-neurogenic ectodermal placode	http://purl.obolibrary.org/obo/UBERON_0005085	ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0003829	urethra muscle tissue	http://purl.obolibrary.org/obo/UBERON_0005090	muscle structure		
http://purl.obolibrary.org/obo/UBERON_0005116	metanephric descending thin limb	http://purl.obolibrary.org/obo/UBERON_0005096	descending thin limb		
http://purl.obolibrary.org/obo/UBERON_0010535	primitive metanephric nephron	http://purl.obolibrary.org/obo/UBERON_0010532	primitive nephron		
http://purl.obolibrary.org/obo/UBERON_0000118	lung bud	http://purl.obolibrary.org/obo/UBERON_0005153	epithelial bud		
http://purl.obolibrary.org/obo/UBERON_0005333	mammary bud	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0022284	lacrimal gland bud	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0005295	sex cord	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0009843	prostate epithelial cord	http://purl.obolibrary.org/obo/UBERON_0005154	epithelial cord		
http://purl.obolibrary.org/obo/UBERON_0001300	scrotum	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0005352	spermatic cord	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0009853	body of uterus	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0011374	prepuce	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0001328	lobe of prostate	http://purl.obolibrary.org/obo/UBERON_0009912	anatomical lobe		
http://purl.obolibrary.org/obo/UBERON_0003946	placenta labyrinth	http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure		
http://purl.obolibrary.org/obo/UBERON_0004027	chorionic plate	http://purl.obolibrary.org/obo/UBERON_0005292	extraembryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0004224	muscular coat of vas deferens	http://purl.obolibrary.org/obo/UBERON_0034933	layer of smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004665	muscular coat of seminal vesicle	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0004806	vas deferens epithelium	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0005212	Leydig cell region of testis	http://purl.obolibrary.org/obo/UBERON_0005169	interstitial tissue		
http://purl.obolibrary.org/obo/UBERON_0006642	muscle layer of oviduct	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0006645	adventitia of epididymis	http://purl.obolibrary.org/obo/UBERON_0005742	adventitia		
http://purl.obolibrary.org/obo/UBERON_0006646	muscle layer of epididymis	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0006647	adventitia of ductus deferens	http://purl.obolibrary.org/obo/UBERON_0005742	adventitia		
http://purl.obolibrary.org/obo/UBERON_0006648	adventitia of seminal vesicle	http://purl.obolibrary.org/obo/UBERON_0005742	adventitia		
http://purl.obolibrary.org/obo/UBERON_0006652	muscular layer of vagina	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0006834	uterus or analog	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0006948	efferent duct epithelium	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0006953	ejaculatory duct epithelium	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0007182	muscle layer of infundibulum of uterine tube	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0012241	male urethral meatus	http://purl.obolibrary.org/obo/UBERON_0012240	urethral meatus		
http://purl.obolibrary.org/obo/UBERON_0013515	subdivision of oviduct	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0013719	dartos muscle of scrotum	http://purl.obolibrary.org/obo/UBERON_0013718	dartos muscle		
http://purl.obolibrary.org/obo/UBERON_0013720	dartos muscle of labia majora	http://purl.obolibrary.org/obo/UBERON_0013718	dartos muscle		
http://purl.obolibrary.org/obo/UBERON_0015130	connective tissue of prostate gland	http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0018529	female inguinal ring	http://purl.obolibrary.org/obo/UBERON_0006674	inguinal ring		
http://purl.obolibrary.org/obo/UBERON_0018530	male inguinal ring	http://purl.obolibrary.org/obo/UBERON_0006674	inguinal ring		
http://purl.obolibrary.org/obo/UBERON_0034770	bulbourethral gland epithelium	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_8480037	subserosa of fallopian tube	http://purl.obolibrary.org/obo/UBERON_0012375	subserosa		
http://purl.obolibrary.org/obo/UBERON_0005153	epithelial bud	http://purl.obolibrary.org/obo/UBERON_0005157	epithelial fold		
http://purl.obolibrary.org/obo/UBERON_0034907	pineal parenchyma	http://purl.obolibrary.org/obo/UBERON_0005158	parenchyma of central nervous system		
http://purl.obolibrary.org/obo/UBERON_0006590	remnant of embryonic structure	http://purl.obolibrary.org/obo/UBERON_0005160	vestigial structure		
http://purl.obolibrary.org/obo/UBERON_0012337	cauda equina	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0000122	neuron projection bundle	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0004062	neural tube marginal layer	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0006134	nerve fiber	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0012423	layer of microvilli	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer	http://purl.obolibrary.org/obo/UBERON_0005162	multi cell part structure		
http://purl.obolibrary.org/obo/UBERON_0015423	hilar portion of hepatic duct	http://purl.obolibrary.org/obo/UBERON_0005171	hepatic duct		
http://purl.obolibrary.org/obo/UBERON_0002369	adrenal gland	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0013139	ligament of liver	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0005172	abdomen element	http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element		
http://purl.obolibrary.org/obo/UBERON_0005179	pelvic region element	http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element		
http://purl.obolibrary.org/obo/UBERON_0015009	lumbar vertebra endochondral element	http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element		
http://purl.obolibrary.org/obo/UBERON_0000351	nuchal ligament	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0006065	hemal arch	http://purl.obolibrary.org/obo/UBERON_0010358	arch of centrum of vertebra		
http://purl.obolibrary.org/obo/UBERON_0015007	cervical vertebra endochondral element	http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element		
http://purl.obolibrary.org/obo/UBERON_0015008	thoracic vertebra endochondral element	http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element		
http://purl.obolibrary.org/obo/UBERON_0015010	sacral vertebra endochondral element	http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element		
http://purl.obolibrary.org/obo/UBERON_0018142	caudal vertebra endochondral element	http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element		
http://purl.obolibrary.org/obo/UBERON_0001774	skeletal muscle of trunk	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0002075	viscus	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0005173	abdominal segment element	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ	http://purl.obolibrary.org/obo/UBERON_0005177	trunk region element		
http://purl.obolibrary.org/obo/UBERON_0034726	trunk taste bud	http://purl.obolibrary.org/obo/UBERON_0034717	integumental taste bud		
http://purl.obolibrary.org/obo/UBERON_0015410	heart plus pericardium	http://purl.obolibrary.org/obo/UBERON_0005178	thoracic cavity element		
http://purl.obolibrary.org/obo/UBERON_0012281	perianal sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0016852	skin scent gland		
http://purl.obolibrary.org/obo/UBERON_0015054	iliac endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015055	pubic endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015056	ischial endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0018411	ligament of hip joint	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0000975	sternum	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0002406	pericardial sac	http://purl.obolibrary.org/obo/UBERON_0005906	serous sac		
http://purl.obolibrary.org/obo/UBERON_0005175	chest organ	http://purl.obolibrary.org/obo/UBERON_0005181	thoracic segment organ		
http://purl.obolibrary.org/obo/UBERON_0006338	lateral ventricle choroid plexus stroma	http://purl.obolibrary.org/obo/UBERON_0005206	choroid plexus stroma		
http://purl.obolibrary.org/obo/UBERON_0006339	third ventricle choroid plexus stroma	http://purl.obolibrary.org/obo/UBERON_0005206	choroid plexus stroma		
http://purl.obolibrary.org/obo/UBERON_0006340	fourth ventricle choroid plexus stroma	http://purl.obolibrary.org/obo/UBERON_0005206	choroid plexus stroma		
http://purl.obolibrary.org/obo/UBERON_0010189	right atrium venous valve	http://purl.obolibrary.org/obo/UBERON_0006675	venous valve		
http://purl.obolibrary.org/obo/UBERON_0005213	outer renal medulla interstitium	http://purl.obolibrary.org/obo/UBERON_0005211	renal medulla interstitium		
http://purl.obolibrary.org/obo/UBERON_0005214	inner renal medulla interstitium	http://purl.obolibrary.org/obo/UBERON_0005211	renal medulla interstitium		
http://purl.obolibrary.org/obo/UBERON_0018119	left renal medulla interstitium	http://purl.obolibrary.org/obo/UBERON_0018113	left kidney interstitium		
http://purl.obolibrary.org/obo/UBERON_0018120	right renal medulla interstitium	http://purl.obolibrary.org/obo/UBERON_0018114	right kidney interstitium		
http://purl.obolibrary.org/obo/UBERON_0005211	renal medulla interstitium	http://purl.obolibrary.org/obo/UBERON_0005215	kidney interstitium		
http://purl.obolibrary.org/obo/UBERON_0005270	renal cortex interstitium	http://purl.obolibrary.org/obo/UBERON_0005215	kidney interstitium		
http://purl.obolibrary.org/obo/UBERON_0018113	left kidney interstitium	http://purl.obolibrary.org/obo/UBERON_0005215	kidney interstitium		
http://purl.obolibrary.org/obo/UBERON_0018114	right kidney interstitium	http://purl.obolibrary.org/obo/UBERON_0005215	kidney interstitium		
http://purl.obolibrary.org/obo/UBERON_0005649	pedal digit 2 epithelium	http://purl.obolibrary.org/obo/UBERON_0005226	pedal digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0005650	pedal digit 3 epithelium	http://purl.obolibrary.org/obo/UBERON_0005226	pedal digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0005651	pedal digit 4 epithelium	http://purl.obolibrary.org/obo/UBERON_0005226	pedal digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0005652	pedal digit 5 epithelium	http://purl.obolibrary.org/obo/UBERON_0005226	pedal digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0010693	pedal digit 1 epithelium	http://purl.obolibrary.org/obo/UBERON_0005226	pedal digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0005645	manual digit 2 epithelium	http://purl.obolibrary.org/obo/UBERON_0005227	manual digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0005646	manual digit 3 epithelium	http://purl.obolibrary.org/obo/UBERON_0005227	manual digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0005647	manual digit 4 epithelium	http://purl.obolibrary.org/obo/UBERON_0005227	manual digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0005648	manual digit 5 epithelium	http://purl.obolibrary.org/obo/UBERON_0005227	manual digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0010690	manual digit 1 epithelium	http://purl.obolibrary.org/obo/UBERON_0005227	manual digit epithelium		
http://purl.obolibrary.org/obo/UBERON_0003325	mesenchyme of pinna	http://purl.obolibrary.org/obo/UBERON_0005253	head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0006905	mandibular process mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005253	head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0007213	mesenchyme derived from head neural crest	http://purl.obolibrary.org/obo/UBERON_0005253	head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009506	mesenchyme of middle ear	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0009617	head paraxial mesoderm	http://purl.obolibrary.org/obo/UBERON_0005253	head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009891	facial mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005253	head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009920	optic neural crest	http://purl.obolibrary.org/obo/UBERON_0007530	migrating mesenchyme population		
http://purl.obolibrary.org/obo/UBERON_0006234	femur pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015052	femur endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010129	femur cartilage element	http://purl.obolibrary.org/obo/UBERON_0015052	femur endochondral element		
http://purl.obolibrary.org/obo/UBERON_0005696	pedal digit 2 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005255	pedal digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005697	pedal digit 3 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005255	pedal digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005698	pedal digit 4 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005255	pedal digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005699	pedal digit 5 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005255	pedal digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010562	pedal digit 1 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005255	pedal digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0006255	ischial pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015056	ischial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006285	pubic pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015055	pubic endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006295	sternebral bone pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0005866	pre-cartilage condensation		
http://purl.obolibrary.org/obo/UBERON_0007214	mesenchyme derived from trunk neural crest	http://purl.obolibrary.org/obo/UBERON_0005256	trunk mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009618	trunk paraxial mesoderm	http://purl.obolibrary.org/obo/UBERON_0005256	trunk mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005692	manual digit 2 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005257	manual digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005693	manual digit 3 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005257	manual digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005694	manual digit 4 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005257	manual digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005695	manual digit 5 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005257	manual digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010564	manual digit 1 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005257	manual digit mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0006245	humerus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015053	humerus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006246	humerus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015053	humerus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010850	tibia pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015004	tibia endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010852	fibula pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015013	fibula endochondral element		
http://purl.obolibrary.org/obo/UBERON_0018117	left renal cortex interstitium	http://purl.obolibrary.org/obo/UBERON_0018113	left kidney interstitium		
http://purl.obolibrary.org/obo/UBERON_0018118	right renal cortex interstitium	http://purl.obolibrary.org/obo/UBERON_0018114	right kidney interstitium		
http://purl.obolibrary.org/obo/UBERON_0005286	tela choroidea of midbrain cerebral aqueduct	http://purl.obolibrary.org/obo/UBERON_0005283	tela choroidea		
http://purl.obolibrary.org/obo/UBERON_0005287	tela choroidea of fourth ventricle	http://purl.obolibrary.org/obo/UBERON_0005283	tela choroidea		
http://purl.obolibrary.org/obo/UBERON_0005288	tela choroidea of third ventricle	http://purl.obolibrary.org/obo/UBERON_0005283	tela choroidea		
http://purl.obolibrary.org/obo/UBERON_0005289	tela choroidea of telencephalic ventricle	http://purl.obolibrary.org/obo/UBERON_0005283	tela choroidea		
http://purl.obolibrary.org/obo/UBERON_0034953	embryonic lymph sac	http://purl.obolibrary.org/obo/UBERON_0007499	epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0000095	cardiac neural crest	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003051	ear vesicle	http://purl.obolibrary.org/obo/UBERON_0007499	epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0003056	pre-chordal neural plate	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003077	paraxial mesoderm	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0003083	trunk neural crest	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003099	cranial neural crest	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003249	epithelium of otic placode	http://purl.obolibrary.org/obo/UBERON_0015807	ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0003299	roof plate of midbrain	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003300	roof plate of telencephalon	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003301	roof plate of diencephalon	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003302	roof plate of metencephalon	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003303	roof plate of medulla oblongata	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0003922	pancreatic epithelial bud	http://purl.obolibrary.org/obo/UBERON_0007499	epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0004022	germinal neuroepithelium	http://purl.obolibrary.org/obo/UBERON_0034706	proliferating neuroepithelium		
http://purl.obolibrary.org/obo/UBERON_0004060	neural tube ventricular layer	http://purl.obolibrary.org/obo/UBERON_0034706	proliferating neuroepithelium		
http://purl.obolibrary.org/obo/UBERON_0004061	neural tube mantle layer	http://purl.obolibrary.org/obo/UBERON_0034707	differentiating neuroepithelium		
http://purl.obolibrary.org/obo/UBERON_0004064	neural tube basal plate	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0005428	vagal neural crest	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0005724	roof plate spinal cord region	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0005866	pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0005856	developing mesenchymal condensation		
http://purl.obolibrary.org/obo/UBERON_0007005	cardiogenic splanchnic mesoderm	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0007687	kidney field	http://purl.obolibrary.org/obo/UBERON_0007688	anlage		
http://purl.obolibrary.org/obo/UBERON_0009494	pharyngeal arch mesenchymal region	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0009722	entire pharyngeal arch endoderm	http://purl.obolibrary.org/obo/UBERON_0015833	foregut epithelium		
http://purl.obolibrary.org/obo/UBERON_0009847	prostate field	http://purl.obolibrary.org/obo/UBERON_0007688	anlage		
http://purl.obolibrary.org/obo/UBERON_0010046	entire pharyngeal arch associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0010075	sacral neural crest	http://purl.obolibrary.org/obo/UBERON_0005291	embryonic tissue		
http://purl.obolibrary.org/obo/UBERON_0010090	future falx cerebri	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0010091	future hindbrain meninx	http://purl.obolibrary.org/obo/UBERON_0007645	future meninx		
http://purl.obolibrary.org/obo/UBERON_0010359	pharyngeal arch mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0014387	mesenchyme derived from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010377	mesenchyme from somatopleure	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0010378	mesenchyme from splanchnopleure	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0001040	yolk sac	http://purl.obolibrary.org/obo/UBERON_0007499	epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0011375	skin of prepuce of clitoris	http://purl.obolibrary.org/obo/UBERON_0005298	skin of clitoris		
http://purl.obolibrary.org/obo/UBERON_0005953	outflow part of right ventricle	http://purl.obolibrary.org/obo/UBERON_0005337	outflow tract of ventricle		
http://purl.obolibrary.org/obo/UBERON_0005956	outflow part of left ventricle	http://purl.obolibrary.org/obo/UBERON_0005337	outflow tract of ventricle		
http://purl.obolibrary.org/obo/UBERON_0004642	third ventricle ependyma	http://purl.obolibrary.org/obo/UBERON_0005357	brain ependyma		
http://purl.obolibrary.org/obo/UBERON_0004643	lateral ventricle ependyma	http://purl.obolibrary.org/obo/UBERON_0005357	brain ependyma		
http://purl.obolibrary.org/obo/UBERON_0004644	fourth ventricle ependyma	http://purl.obolibrary.org/obo/UBERON_0005357	brain ependyma		
http://purl.obolibrary.org/obo/UBERON_0036654	wall of lateral ventricle	http://purl.obolibrary.org/obo/UBERON_0036661	wall of ventricular system of brain		
http://purl.obolibrary.org/obo/UBERON_0036655	wall of cerebral aqueduct	http://purl.obolibrary.org/obo/UBERON_0036661	wall of ventricular system of brain		
http://purl.obolibrary.org/obo/UBERON_0036656	wall of third ventricle	http://purl.obolibrary.org/obo/UBERON_0036661	wall of ventricular system of brain		
http://purl.obolibrary.org/obo/UBERON_0036657	wall of fourth ventricle	http://purl.obolibrary.org/obo/UBERON_0036661	wall of ventricular system of brain		
http://purl.obolibrary.org/obo/UBERON_0005363	inferior vagus X ganglion	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0001997	olfactory epithelium	http://purl.obolibrary.org/obo/UBERON_0010499	pseudostratified ciliated columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0000965	lens of camera-type eye	http://purl.obolibrary.org/obo/UBERON_0005389	transparent eye structure		
http://purl.obolibrary.org/obo/UBERON_0010145	paraurethral gland	http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0011826	vestibular gland	http://purl.obolibrary.org/obo/UBERON_0005398	female reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0006868	seminal fluid secreting gland	http://purl.obolibrary.org/obo/UBERON_0005399	male reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0010147	male accessory sex gland	http://purl.obolibrary.org/obo/UBERON_0005399	male reproductive gland		
http://purl.obolibrary.org/obo/UBERON_0000446	septum of telencephalon	http://purl.obolibrary.org/obo/UBERON_0005401	cerebral hemisphere gray matter		
http://purl.obolibrary.org/obo/UBERON_0002663	septal nuclear complex	http://purl.obolibrary.org/obo/UBERON_0007245	nuclear complex of neuraxis		
http://purl.obolibrary.org/obo/UBERON_0016529	cortex of cerebral lobe	http://purl.obolibrary.org/obo/UBERON_0005401	cerebral hemisphere gray matter		
http://purl.obolibrary.org/obo/UBERON_0010134	secretory circumventricular organ	http://purl.obolibrary.org/obo/UBERON_0010133	neuroendocrine gland		
http://purl.obolibrary.org/obo/UBERON_0010135	sensory circumventricular organ	http://purl.obolibrary.org/obo/UBERON_0005408	circumventricular organ		
http://purl.obolibrary.org/obo/UBERON_0000478	extraembryonic structure	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0001048	primordium	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0002050	embryonic structure	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0002329	somite	http://purl.obolibrary.org/obo/UBERON_0007503	epithelial vesicle		
http://purl.obolibrary.org/obo/UBERON_0004198	comma-shaped body	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004199	S-shaped body	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005356	Rathke's pouch	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0006268	notochordal process	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0006306	ulna cartilage element	http://purl.obolibrary.org/obo/UBERON_0015003	ulna endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006965	vascular cord	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0008281	tooth bud	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0009145	pharyngeal region of foregut	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0009871	nephrogenic zone	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0010020	tubotympanic recess epithelium	http://purl.obolibrary.org/obo/UBERON_0015813	middle ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0010312	immature eye	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0010531	metanephros induced blastemal cells	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0011757	differentiated genital tubercle	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0013238	future glans	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0014950	layer of developing cerebral cortex	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0016888	transitional anatomical structure	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0017650	developing mesenchymal structure	http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0012477	dorsal part of neck	http://purl.obolibrary.org/obo/UBERON_0005434	cervical region		
http://purl.obolibrary.org/obo/UBERON_0008338	plantar part of pes	http://purl.obolibrary.org/obo/UBERON_0008837	palmar/plantar part of autopod		
http://purl.obolibrary.org/obo/UBERON_0009553	distal segment of pedal digit	http://purl.obolibrary.org/obo/UBERON_0009551	distal segment of digit		
http://purl.obolibrary.org/obo/UBERON_0012142	pedal digitopodium region	http://purl.obolibrary.org/obo/UBERON_0012140	digitopodium region		
http://purl.obolibrary.org/obo/UBERON_0012356	pedal acropodium region	http://purl.obolibrary.org/obo/UBERON_0012354	acropodium region		
http://purl.obolibrary.org/obo/UBERON_0015875	heel	http://purl.obolibrary.org/obo/UBERON_0005445	segment of pes		
http://purl.obolibrary.org/obo/UBERON_0004453	metacarpus region	http://purl.obolibrary.org/obo/UBERON_0009877	metapodium region		
http://purl.obolibrary.org/obo/UBERON_0008878	palmar part of manus	http://purl.obolibrary.org/obo/UBERON_0008837	palmar/plantar part of autopod		
http://purl.obolibrary.org/obo/UBERON_0009552	distal segment of manual digit	http://purl.obolibrary.org/obo/UBERON_0009551	distal segment of digit		
http://purl.obolibrary.org/obo/UBERON_0012141	manual digitopodium region	http://purl.obolibrary.org/obo/UBERON_0012140	digitopodium region		
http://purl.obolibrary.org/obo/UBERON_0012355	manual acropodium region	http://purl.obolibrary.org/obo/UBERON_0012354	acropodium region		
http://purl.obolibrary.org/obo/UBERON_0009570	spinal cord sulcus limitans	http://purl.obolibrary.org/obo/UBERON_0005478	sulcus limitans of neural tube		
http://purl.obolibrary.org/obo/UBERON_0009576	medulla oblongata sulcus limitans	http://purl.obolibrary.org/obo/UBERON_0005478	sulcus limitans of neural tube		
http://purl.obolibrary.org/obo/UBERON_0009577	metencephalon sulcus limitans	http://purl.obolibrary.org/obo/UBERON_0005478	sulcus limitans of neural tube		
http://purl.obolibrary.org/obo/UBERON_0009578	myelencephalon sulcus limitans	http://purl.obolibrary.org/obo/UBERON_0005478	sulcus limitans of neural tube		
http://purl.obolibrary.org/obo/UBERON_0005457	left thymus lobe	http://purl.obolibrary.org/obo/UBERON_0005483	thymus lobe		
http://purl.obolibrary.org/obo/UBERON_0005469	right thymus lobe	http://purl.obolibrary.org/obo/UBERON_0005483	thymus lobe		
http://purl.obolibrary.org/obo/UBERON_0005998	tricuspid valve cusp	http://purl.obolibrary.org/obo/UBERON_0006009	cusp of cardiac valve		
http://purl.obolibrary.org/obo/UBERON_0003712	cavernous sinus	http://purl.obolibrary.org/obo/UBERON_0005486	venous dural sinus		
http://purl.obolibrary.org/obo/UBERON_0017640	unpaired venous dural sinus	http://purl.obolibrary.org/obo/UBERON_0005486	venous dural sinus		
http://purl.obolibrary.org/obo/UBERON_0005460	left vitelline vein	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0005472	right vitelline vein	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0006011	hyaloid vein	http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein		
http://purl.obolibrary.org/obo/UBERON_0005501	rhombomere lateral wall	http://purl.obolibrary.org/obo/UBERON_0005496	neural tube lateral wall		
http://purl.obolibrary.org/obo/UBERON_2007013	preplacodal ectoderm	http://purl.obolibrary.org/obo/UBERON_0005497	non-neural ectoderm		
http://purl.obolibrary.org/obo/UBERON_0005567	rhombomere 1 lateral wall	http://purl.obolibrary.org/obo/UBERON_0005501	rhombomere lateral wall		
http://purl.obolibrary.org/obo/UBERON_0005568	rhombomere 1 roof plate	http://purl.obolibrary.org/obo/UBERON_0005502	rhombomere roof plate		
http://purl.obolibrary.org/obo/UBERON_0001191	common iliac artery	http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery		
http://purl.obolibrary.org/obo/UBERON_0001308	external iliac artery	http://purl.obolibrary.org/obo/UBERON_0005609	iliac artery		
http://purl.obolibrary.org/obo/UBERON_0001309	internal iliac artery	http://purl.obolibrary.org/obo/UBERON_0005609	iliac artery		
http://purl.obolibrary.org/obo/UBERON_0013679	inner canthus of right eye	http://purl.obolibrary.org/obo/UBERON_0005611	inner canthus		
http://purl.obolibrary.org/obo/UBERON_0013680	inner canthus of left eye	http://purl.obolibrary.org/obo/UBERON_0005611	inner canthus		
http://purl.obolibrary.org/obo/UBERON_0001182	superior mesenteric artery	http://purl.obolibrary.org/obo/UBERON_0005616	mesenteric artery		
http://purl.obolibrary.org/obo/UBERON_0001183	inferior mesenteric artery	http://purl.obolibrary.org/obo/UBERON_0035039	rectal artery		
http://purl.obolibrary.org/obo/UBERON_0001138	superior mesenteric vein	http://purl.obolibrary.org/obo/UBERON_0005617	mesenteric vein		
http://purl.obolibrary.org/obo/UBERON_0001215	inferior mesenteric vein	http://purl.obolibrary.org/obo/UBERON_0005617	mesenteric vein		
http://purl.obolibrary.org/obo/UBERON_0002137	aortic valve	http://purl.obolibrary.org/obo/UBERON_0005623	semi-lunar valve		
http://purl.obolibrary.org/obo/UBERON_0002146	pulmonary valve	http://purl.obolibrary.org/obo/UBERON_0005623	semi-lunar valve		
http://purl.obolibrary.org/obo/UBERON_0002056	inferior suprarenal artery	http://purl.obolibrary.org/obo/UBERON_0005624	suprarenal artery		
http://purl.obolibrary.org/obo/UBERON_0000305	amnion	http://purl.obolibrary.org/obo/UBERON_0005631	extraembryonic membrane		
http://purl.obolibrary.org/obo/UBERON_0003124	chorion membrane	http://purl.obolibrary.org/obo/UBERON_0005631	extraembryonic membrane		
http://purl.obolibrary.org/obo/UBERON_0004340	allantois	http://purl.obolibrary.org/obo/UBERON_0005631	extraembryonic membrane		
http://purl.obolibrary.org/obo/UBERON_0005630	fetal membrane	http://purl.obolibrary.org/obo/UBERON_0005631	extraembryonic membrane		
http://purl.obolibrary.org/obo/UBERON_0010254	2nd arch mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010359	pharyngeal arch mesenchyme from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010343	2nd arch mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010360	pharyngeal arch mesenchyme from head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010255	3rd arch mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010359	pharyngeal arch mesenchyme from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010344	3rd arch mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010360	pharyngeal arch mesenchyme from head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010256	4th arch mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010359	pharyngeal arch mesenchyme from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010345	4th arch mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010360	pharyngeal arch mesenchyme from head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0005725	olfactory system	http://purl.obolibrary.org/obo/UBERON_0005726	chemosensory system		
http://purl.obolibrary.org/obo/UBERON_0005729	pectoral appendage field	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0005730	pelvic appendage field	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0005733	limb field	http://purl.obolibrary.org/obo/UBERON_0005732	paired limb/fin field		
http://purl.obolibrary.org/obo/UBERON_0004664	aorta tunica adventitia	http://purl.obolibrary.org/obo/UBERON_0005734	tunica adventitia of blood vessel		
http://purl.obolibrary.org/obo/UBERON_0007240	tunica adventitia of artery	http://purl.obolibrary.org/obo/UBERON_0005734	tunica adventitia of blood vessel		
http://purl.obolibrary.org/obo/UBERON_0007241	tunica adventitia of vein	http://purl.obolibrary.org/obo/UBERON_0005734	tunica adventitia of blood vessel		
http://purl.obolibrary.org/obo/UBERON_0001252	adventitia of ureter	http://purl.obolibrary.org/obo/UBERON_0005742	adventitia		
http://purl.obolibrary.org/obo/UBERON_0012504	adventitia of esophagus	http://purl.obolibrary.org/obo/UBERON_0005742	adventitia		
http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull	http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen		
http://purl.obolibrary.org/obo/UBERON_0018326	ilioischiadic foramen	http://purl.obolibrary.org/obo/UBERON_0005744	bone foramen		
http://purl.obolibrary.org/obo/UBERON_0000086	zona pellucida	http://purl.obolibrary.org/obo/UBERON_0005764	acellular membrane		
http://purl.obolibrary.org/obo/UBERON_0000482	basal lamina of epithelium	http://purl.obolibrary.org/obo/UBERON_0005764	acellular membrane		
http://purl.obolibrary.org/obo/UBERON_0001804	capsule of lens	http://purl.obolibrary.org/obo/UBERON_0005764	acellular membrane		
http://purl.obolibrary.org/obo/UBERON_0005769	basement membrane of epithelium	http://purl.obolibrary.org/obo/UBERON_0005764	acellular membrane		
http://purl.obolibrary.org/obo/UBERON_0004367	Descemet's membrane	http://purl.obolibrary.org/obo/UBERON_0005769	basement membrane of epithelium		
http://purl.obolibrary.org/obo/UBERON_0005777	glomerular basement membrane	http://purl.obolibrary.org/obo/UBERON_0005769	basement membrane of epithelium		
http://purl.obolibrary.org/obo/UBERON_0009651	nephron tubule basement membrane	http://purl.obolibrary.org/obo/UBERON_0005769	basement membrane of epithelium		
http://purl.obolibrary.org/obo/UBERON_0015329	respiratory system basement membrane	http://purl.obolibrary.org/obo/UBERON_0005769	basement membrane of epithelium		
http://purl.obolibrary.org/obo/UBERON_0007307	pronephric glomerular basement membrane	http://purl.obolibrary.org/obo/UBERON_0005777	glomerular basement membrane		
http://purl.obolibrary.org/obo/UBERON_0001515	thoracic aorta	http://purl.obolibrary.org/obo/UBERON_0005800	section of aorta		
http://purl.obolibrary.org/obo/UBERON_0001516	abdominal aorta	http://purl.obolibrary.org/obo/UBERON_0005800	section of aorta		
http://purl.obolibrary.org/obo/UBERON_0010194	hepatic portal system	http://purl.obolibrary.org/obo/UBERON_0005806	portal system		
http://purl.obolibrary.org/obo/UBERON_0004400	bone tissue of epiphysis	http://purl.obolibrary.org/obo/UBERON_0005808	bone tissue of long bone		
http://purl.obolibrary.org/obo/UBERON_0002498	deltopectoral crest	http://purl.obolibrary.org/obo/UBERON_4100000	skeletal element projection		
http://purl.obolibrary.org/obo/UBERON_0010760	supraglenoid tubercle	http://purl.obolibrary.org/obo/UBERON_4100000	skeletal element projection		
http://purl.obolibrary.org/obo/UBERON_0017163	skin bony tubercle	http://purl.obolibrary.org/obo/UBERON_0013703	integumentary projection		
http://purl.obolibrary.org/obo/UBERON_7500062	tibial tuberosity	http://purl.obolibrary.org/obo/UBERON_4100000	skeletal element projection		
http://purl.obolibrary.org/obo/UBERON_7500094	tubercle of calcaneus	http://purl.obolibrary.org/obo/UBERON_4100000	skeletal element projection		
http://purl.obolibrary.org/obo/UBERON_0022248	cerebral nerve fasciculus	http://purl.obolibrary.org/obo/UBERON_0005838	fasciculus of brain		
http://purl.obolibrary.org/obo/UBERON_0002726	cervical spinal cord	http://purl.obolibrary.org/obo/UBERON_0005844	spinal cord segment		
http://purl.obolibrary.org/obo/UBERON_0002792	lumbar spinal cord	http://purl.obolibrary.org/obo/UBERON_0005844	spinal cord segment		
http://purl.obolibrary.org/obo/UBERON_0003038	thoracic spinal cord	http://purl.obolibrary.org/obo/UBERON_0005844	spinal cord segment		
http://purl.obolibrary.org/obo/UBERON_0005437	conus medullaris	http://purl.obolibrary.org/obo/UBERON_0005844	spinal cord segment		
http://purl.obolibrary.org/obo/UBERON_0005843	sacral spinal cord	http://purl.obolibrary.org/obo/UBERON_0005844	spinal cord segment		
http://purl.obolibrary.org/obo/UBERON_0005845	caudal segment of spinal cord	http://purl.obolibrary.org/obo/UBERON_0005844	spinal cord segment		
http://purl.obolibrary.org/obo/UBERON_0001763	odontogenic papilla	http://purl.obolibrary.org/obo/UBERON_0007213	mesenchyme derived from head neural crest		
http://purl.obolibrary.org/obo/UBERON_0003089	sclerotome	http://purl.obolibrary.org/obo/UBERON_0007530	migrating mesenchyme population		
http://purl.obolibrary.org/obo/UBERON_0005863	cartilaginous condensation	http://purl.obolibrary.org/obo/UBERON_0005856	developing mesenchymal condensation		
http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation	http://purl.obolibrary.org/obo/UBERON_0005856	developing mesenchymal condensation		
http://purl.obolibrary.org/obo/UBERON_0006254	ischial cartilage element	http://purl.obolibrary.org/obo/UBERON_0015056	ischial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006288	rib cartilage element	http://purl.obolibrary.org/obo/UBERON_0015019	rib endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010714	iliac cartilage element	http://purl.obolibrary.org/obo/UBERON_0015054	iliac endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010718	pubic cartilage element	http://purl.obolibrary.org/obo/UBERON_0015055	pubic endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010842	calcaneum cartilage element	http://purl.obolibrary.org/obo/UBERON_0035129	pes cartilage element		
http://purl.obolibrary.org/obo/UBERON_0010843	clavicle cartilage element	http://purl.obolibrary.org/obo/UBERON_0005863	cartilaginous condensation		
http://purl.obolibrary.org/obo/UBERON_0006219	deltoid pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation		
http://purl.obolibrary.org/obo/UBERON_0010955	trapezius pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0010258	mesenchyme from rhombencephalic neural crest		
http://purl.obolibrary.org/obo/UBERON_0010975	external oblique pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation		
http://purl.obolibrary.org/obo/UBERON_0010977	flexor pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation		
http://purl.obolibrary.org/obo/UBERON_0010982	latissimus dorsi pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation		
http://purl.obolibrary.org/obo/UBERON_0010983	levator scapulae pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation		
http://purl.obolibrary.org/obo/UBERON_0010986	serratus ventralis pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation		
http://purl.obolibrary.org/obo/UBERON_0011332	extrinsic tongue pre-muscle mass	http://purl.obolibrary.org/obo/UBERON_0005865	pre-muscle condensation		
http://purl.obolibrary.org/obo/UBERON_0006289	rib pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015019	rib endochondral element		
http://purl.obolibrary.org/obo/UBERON_0007267	trachea pre-cartilage rings	http://purl.obolibrary.org/obo/UBERON_0009505	mesenchyme of trachea		
http://purl.obolibrary.org/obo/UBERON_0010213	laryngeal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0005866	pre-cartilage condensation		
http://purl.obolibrary.org/obo/UBERON_0010728	sphenoid lesser wing pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015059	orbitosphenoid endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010801	calcaneum pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015014	calcaneum endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010844	clavicle pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0005866	pre-cartilage condensation		
http://purl.obolibrary.org/obo/UBERON_0005873	2nd arch pharyngeal cleft	http://purl.obolibrary.org/obo/UBERON_0005879	pharyngeal cleft		
http://purl.obolibrary.org/obo/UBERON_0005874	3rd arch pharyngeal cleft	http://purl.obolibrary.org/obo/UBERON_0005879	pharyngeal cleft		
http://purl.obolibrary.org/obo/UBERON_0005875	4th arch pharyngeal cleft	http://purl.obolibrary.org/obo/UBERON_0005879	pharyngeal cleft		
http://purl.obolibrary.org/obo/UBERON_0005872	1st arch pharyngeal cleft	http://purl.obolibrary.org/obo/UBERON_0005879	pharyngeal cleft		
http://purl.obolibrary.org/obo/UBERON_0002544	digit	http://purl.obolibrary.org/obo/UBERON_0005881	autopodial extension		
http://purl.obolibrary.org/obo/UBERON_0003826	upper leg bone	http://purl.obolibrary.org/obo/UBERON_0005893	leg bone		
http://purl.obolibrary.org/obo/UBERON_0004251	hindlimb zeugopod bone	http://purl.obolibrary.org/obo/UBERON_0005893	leg bone		
http://purl.obolibrary.org/obo/UBERON_0012358	manual digitopodium bone	http://purl.obolibrary.org/obo/UBERON_0012357	digitopodium bone		
http://purl.obolibrary.org/obo/UBERON_0012359	pedal digitopodium bone	http://purl.obolibrary.org/obo/UBERON_0012357	digitopodium bone		
http://purl.obolibrary.org/obo/UBERON_0008824	duct of epididymis	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0010151	duct of bulbourethral gland	http://purl.obolibrary.org/obo/UBERON_0005904	duct of male reproductive system		
http://purl.obolibrary.org/obo/UBERON_0005908	conjunctival sac	http://purl.obolibrary.org/obo/UBERON_0005906	serous sac		
http://purl.obolibrary.org/obo/UBERON_0009778	pleural sac	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001901	epithelium of trachea	http://purl.obolibrary.org/obo/UBERON_0008397	tracheobronchial epithelium		
http://purl.obolibrary.org/obo/UBERON_0010063	tympanic cavity epithelium	http://purl.obolibrary.org/obo/UBERON_0015813	middle ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0004108	clivus of occipital bone	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0001269	acetabular part of hip bone	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0001694	petrous part of temporal bone	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0003689	sella turcica	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0004103	alveolar ridge	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0005055	zone of long bone	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0006633	coracoid process of scapula	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0006723	cochlear modiolus	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0007172	angle of scapula	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0009978	epicondyle	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0010273	zone of hyoid bone	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0010355	ossification center	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0010388	proximal segment of rib	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0010424	distal segment of rib	http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ		
http://purl.obolibrary.org/obo/UBERON_0010893	median external naris	http://purl.obolibrary.org/obo/UBERON_0005928	external naris		
http://purl.obolibrary.org/obo/UBERON_0005965	outflow part of right atrium	http://purl.obolibrary.org/obo/UBERON_0005946	outflow tract of atrium		
http://purl.obolibrary.org/obo/UBERON_0005966	outflow part of left atrium	http://purl.obolibrary.org/obo/UBERON_0005946	outflow tract of atrium		
http://purl.obolibrary.org/obo/UBERON_0011590	commissure of diencephalon	http://purl.obolibrary.org/obo/UBERON_0011591	tract of diencephalon		
http://purl.obolibrary.org/obo/UBERON_0019294	commissure of telencephalon	http://purl.obolibrary.org/obo/UBERON_0005970	brain commissure		
http://purl.obolibrary.org/obo/UBERON_0034763	hindbrain commissure	http://purl.obolibrary.org/obo/UBERON_0005970	brain commissure		
http://purl.obolibrary.org/obo/UBERON_0002349	myocardium	http://purl.obolibrary.org/obo/UBERON_0018260	layer of muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0004123	myocardial layer	http://purl.obolibrary.org/obo/UBERON_0005983	heart layer		
http://purl.obolibrary.org/obo/UBERON_0005984	subendocardium layer	http://purl.obolibrary.org/obo/UBERON_0005983	heart layer		
http://purl.obolibrary.org/obo/UBERON_0005994	chorda tendineae	http://purl.obolibrary.org/obo/UBERON_0005983	heart layer		
http://purl.obolibrary.org/obo/UBERON_0014851	chorda tendinea of left ventricle	http://purl.obolibrary.org/obo/UBERON_0005994	chorda tendineae		
http://purl.obolibrary.org/obo/UBERON_0014852	chorda tendinea of right ventricle	http://purl.obolibrary.org/obo/UBERON_0005994	chorda tendineae		
http://purl.obolibrary.org/obo/UBERON_0005991	aortic valve anulus	http://purl.obolibrary.org/obo/UBERON_0006008	fibrous ring of heart		
http://purl.obolibrary.org/obo/UBERON_0005993	pulmonary valve anulus	http://purl.obolibrary.org/obo/UBERON_0006008	fibrous ring of heart		
http://purl.obolibrary.org/obo/UBERON_0005995	mitral valve anulus	http://purl.obolibrary.org/obo/UBERON_0006008	fibrous ring of heart		
http://purl.obolibrary.org/obo/UBERON_0005997	tricuspid valve anulus	http://purl.obolibrary.org/obo/UBERON_0006008	fibrous ring of heart		
http://purl.obolibrary.org/obo/UBERON_0005990	aortic valve cusp	http://purl.obolibrary.org/obo/UBERON_0006009	cusp of cardiac valve		
http://purl.obolibrary.org/obo/UBERON_0005992	pulmonary valve cusp	http://purl.obolibrary.org/obo/UBERON_0006009	cusp of cardiac valve		
http://purl.obolibrary.org/obo/UBERON_0005996	mitral valve cusp	http://purl.obolibrary.org/obo/UBERON_0006009	cusp of cardiac valve		
http://purl.obolibrary.org/obo/UBERON_0001463	manual digit 1	http://purl.obolibrary.org/obo/UBERON_0019231	manual digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0003631	pedal digit 1	http://purl.obolibrary.org/obo/UBERON_0019241	pedal digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0003622	manual digit 2	http://purl.obolibrary.org/obo/UBERON_0019232	manual digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0003632	pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0019242	pedal digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0003623	manual digit 3	http://purl.obolibrary.org/obo/UBERON_0019232	manual digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0003633	pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0019242	pedal digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0003624	manual digit 4	http://purl.obolibrary.org/obo/UBERON_0019232	manual digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0003634	pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0019242	pedal digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0000978	leg	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0001460	arm	http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment		
http://purl.obolibrary.org/obo/UBERON_0001076	neural spine	http://purl.obolibrary.org/obo/UBERON_0006061	process of vertebra		
http://purl.obolibrary.org/obo/UBERON_0001077	transverse process of vertebra	http://purl.obolibrary.org/obo/UBERON_0006061	process of vertebra		
http://purl.obolibrary.org/obo/UBERON_0006072	cervical region of vertebral column	http://purl.obolibrary.org/obo/UBERON_0006077	subdivision of vertebral column		
http://purl.obolibrary.org/obo/UBERON_0006073	thoracic region of vertebral column	http://purl.obolibrary.org/obo/UBERON_0006077	subdivision of vertebral column		
http://purl.obolibrary.org/obo/UBERON_0006074	lumbar region of vertebral column	http://purl.obolibrary.org/obo/UBERON_0006077	subdivision of vertebral column		
http://purl.obolibrary.org/obo/UBERON_0006075	sacral region of vertebral column	http://purl.obolibrary.org/obo/UBERON_0006077	subdivision of vertebral column		
http://purl.obolibrary.org/obo/UBERON_0006076	caudal region of vertebral column	http://purl.obolibrary.org/obo/UBERON_0006077	subdivision of vertebral column		
http://purl.obolibrary.org/obo/UBERON_0009568	trunk region of vertebral column	http://purl.obolibrary.org/obo/UBERON_0006077	subdivision of vertebral column		
http://purl.obolibrary.org/obo/UBERON_0002180	ventral funiculus of spinal cord	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0006127	funiculus of spinal cord	http://purl.obolibrary.org/obo/UBERON_0006133	funiculus of neuraxis		
http://purl.obolibrary.org/obo/UBERON_0003041	trigeminal nerve fibers	http://purl.obolibrary.org/obo/UBERON_0006134	nerve fiber		
http://purl.obolibrary.org/obo/UBERON_0006135	myelinated nerve fiber	http://purl.obolibrary.org/obo/UBERON_0006134	nerve fiber		
http://purl.obolibrary.org/obo/UBERON_0006136	unmyelinated nerve fiber	http://purl.obolibrary.org/obo/UBERON_0006134	nerve fiber		
http://purl.obolibrary.org/obo/UBERON_8410049	serosal nerve fiber of appendix	http://purl.obolibrary.org/obo/UBERON_0006134	nerve fiber		
http://purl.obolibrary.org/obo/UBERON_0001766	anterior chamber of eyeball	http://purl.obolibrary.org/obo/UBERON_0006311	chamber of eyeball		
http://purl.obolibrary.org/obo/UBERON_0001799	vitreous chamber of eyeball	http://purl.obolibrary.org/obo/UBERON_0006311	chamber of eyeball		
http://purl.obolibrary.org/obo/UBERON_0001797	vitreous humor	http://purl.obolibrary.org/obo/UBERON_0006312	ocular refractive media		
http://purl.obolibrary.org/obo/UBERON_0001796	aqueous humor of eyeball	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0000179	haemolymphatic fluid	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0001913	milk	http://purl.obolibrary.org/obo/UBERON_0006539	mammary gland fluid/secretion		
http://purl.obolibrary.org/obo/UBERON_0004691	bulbourethral gland secretion	http://purl.obolibrary.org/obo/UBERON_0006530	seminal fluid		
http://purl.obolibrary.org/obo/UBERON_0007779	transudate	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0013727	notochordal fluid	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0036217	coelomic fluid	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0036243	vaginal fluid	http://purl.obolibrary.org/obo/UBERON_0006314	bodily fluid		
http://purl.obolibrary.org/obo/UBERON_0002047	pontine raphe nucleus	http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0004133	salivatory nucleus	http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0007247	nucleus of superior olivary complex	http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0007635	nucleus of medulla oblongata	http://purl.obolibrary.org/obo/UBERON_0009662	hindbrain nucleus		
http://purl.obolibrary.org/obo/UBERON_0004715	annulus fibrosus disci intervertebralis	http://purl.obolibrary.org/obo/UBERON_0006444	annulus fibrosus		
http://purl.obolibrary.org/obo/UBERON_0004796	prostate gland secretion	http://purl.obolibrary.org/obo/UBERON_0006530	seminal fluid		
http://purl.obolibrary.org/obo/UBERON_0010143	seminal vesicle fluid	http://purl.obolibrary.org/obo/UBERON_0006530	seminal fluid		
http://purl.obolibrary.org/obo/UBERON_0006532	oblique extraocular muscle	http://purl.obolibrary.org/obo/UBERON_0006531	oculomotor muscle		
http://purl.obolibrary.org/obo/UBERON_0006533	rectus extraocular muscle	http://purl.obolibrary.org/obo/UBERON_0006531	oculomotor muscle		
http://purl.obolibrary.org/obo/UBERON_0006321	superior oblique extraocular muscle	http://purl.obolibrary.org/obo/UBERON_0006532	oblique extraocular muscle		
http://purl.obolibrary.org/obo/UBERON_0001603	lateral rectus extra-ocular muscle	http://purl.obolibrary.org/obo/UBERON_0006533	rectus extraocular muscle		
http://purl.obolibrary.org/obo/UBERON_0001287	proximal convoluted tubule	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0001292	distal convoluted tubule	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0008826	pulmonary surfactant	http://purl.obolibrary.org/obo/UBERON_0006538	respiratory system fluid/secretion		
http://purl.obolibrary.org/obo/UBERON_0004190	renal glomerulus vasculature	http://purl.obolibrary.org/obo/UBERON_0006544	kidney vasculature		
http://purl.obolibrary.org/obo/UBERON_0001232	collecting duct of renal tubule	http://purl.obolibrary.org/obo/UBERON_0006555	excretory tube		
http://purl.obolibrary.org/obo/UBERON_0006568	hypothalamic nucleus	http://purl.obolibrary.org/obo/UBERON_0006569	diencephalic nucleus		
http://purl.obolibrary.org/obo/UBERON_0007692	nucleus of thalamus	http://purl.obolibrary.org/obo/UBERON_0006569	diencephalic nucleus		
http://purl.obolibrary.org/obo/UBERON_0003705	Meckel's diverticulum	http://purl.obolibrary.org/obo/UBERON_0006590	remnant of embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0006591	transformed artery	http://purl.obolibrary.org/obo/UBERON_0006590	remnant of embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0006592	transformed vein	http://purl.obolibrary.org/obo/UBERON_0006590	remnant of embryonic structure		
http://purl.obolibrary.org/obo/UBERON_0034764	remnant of cardiac valve	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0003059	presomitic mesoderm	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0003061	blood island	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0003869	presumptive ganglion	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0004348	optic eminence	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0004876	urogenital fold	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0005087	tooth placode	http://purl.obolibrary.org/obo/UBERON_0011814	non-neurogenic ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0005088	sebaceous gland placode	http://purl.obolibrary.org/obo/UBERON_0011814	non-neurogenic ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0005089	sweat gland placode	http://purl.obolibrary.org/obo/UBERON_0011814	non-neurogenic ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0005424	presumptive retinal pigmented epithelium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0005425	presumptive neural retina	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0005795	embryonic uterus	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006222	future diencephalon	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006226	endolymphatic appendage	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006238	future brain	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006240	future forebrain	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006241	future spinal cord	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006283	future cardiac ventricle	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006595	presumptive endoderm	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006596	presumptive blood	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006601	presumptive ectoderm	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006603	presumptive mesoderm	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007026	presumptive gut	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007277	presumptive hindbrain	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007278	presumptive sinus venosus	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007280	presumptive endocardium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007281	presumptive midbrain hindbrain boundary	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007282	presumptive segmental plate	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007285	presumptive paraxial mesoderm	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007288	presumptive forebrain midbrain boundary	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007289	presumptive rhombomere 1	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007297	presumptive pronephric mesoderm	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0007645	future meninx	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0008425	mammary ridge	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0009615	midbrain hindbrain boundary neural plate	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0009616	presumptive midbrain	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0010084	future diaphragm	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0010092	future metencephalon	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0010096	future myelencephalon	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0010130	embryonic autopod plate	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0010227	future cardiac atrium	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0011817	skin appendage placode	http://purl.obolibrary.org/obo/UBERON_0011814	non-neurogenic ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0014371	future telencephalon	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0016879	future central nervous system	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0016880	future nervous system	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0034875	future pituitary gland	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0034876	future neurohypophysis	http://purl.obolibrary.org/obo/UBERON_0006598	presumptive structure		
http://purl.obolibrary.org/obo/UBERON_0006661	epicranial aponeurosis	http://purl.obolibrary.org/obo/UBERON_0006614	aponeurosis		
http://purl.obolibrary.org/obo/UBERON_0011289	pharyngobasilar fascia	http://purl.obolibrary.org/obo/UBERON_0006614	aponeurosis		
http://purl.obolibrary.org/obo/UBERON_0014780	palatine aponeurosis	http://purl.obolibrary.org/obo/UBERON_0006614	aponeurosis		
http://purl.obolibrary.org/obo/UBERON_0005486	venous dural sinus	http://purl.obolibrary.org/obo/UBERON_0006615	venous sinus		
http://purl.obolibrary.org/obo/UBERON_0009767	proximal interphalangeal joint	http://purl.obolibrary.org/obo/UBERON_0006658	interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0009768	distal interphalangeal joint	http://purl.obolibrary.org/obo/UBERON_0006658	interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0006855	muscular coat of ureter	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0012378	muscle layer of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0016515	muscular layer of prostatic urethra	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0018261	muscular coat of digestive tract	http://purl.obolibrary.org/obo/UBERON_0006660	muscular coat		
http://purl.obolibrary.org/obo/UBERON_0013721	deep inguinal ring	http://purl.obolibrary.org/obo/UBERON_0006674	inguinal ring		
http://purl.obolibrary.org/obo/UBERON_0004452	carpal region	http://purl.obolibrary.org/obo/UBERON_0008785	upper limb segment		
http://purl.obolibrary.org/obo/UBERON_0004454	tarsal region	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0001442	skeleton of manus	http://purl.obolibrary.org/obo/UBERON_0006717	autopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_0001445	skeleton of pes	http://purl.obolibrary.org/obo/UBERON_0006717	autopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_0005611	inner canthus	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0004104	hairline	http://purl.obolibrary.org/obo/UBERON_0006800	anatomical line		
http://purl.obolibrary.org/obo/UBERON_0010222	anatomical line between pupils	http://purl.obolibrary.org/obo/UBERON_0006800	anatomical line		
http://purl.obolibrary.org/obo/UBERON_0010231	anatomical line between outer ears	http://purl.obolibrary.org/obo/UBERON_0006800	anatomical line		
http://purl.obolibrary.org/obo/UBERON_0011877	margin of tongue	http://purl.obolibrary.org/obo/UBERON_0006800	anatomical line		
http://purl.obolibrary.org/obo/UBERON_0012437	epithelial-mesenchymal boundary	http://purl.obolibrary.org/obo/UBERON_0006800	anatomical line		
http://purl.obolibrary.org/obo/UBERON_0013455	spheno-petrosal fissure	http://purl.obolibrary.org/obo/UBERON_0006800	anatomical line		
http://purl.obolibrary.org/obo/UBERON_0013678	anatomical line between inner canthi	http://purl.obolibrary.org/obo/UBERON_0006800	anatomical line		
http://purl.obolibrary.org/obo/UBERON_0002618	root of trochlear nerve	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0002668	oculomotor nerve root	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0002731	vestibulocochlear nerve root	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0002786	root of abducens nerve	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0004673	trigeminal nerve root	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0004674	facial nerve root	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0004675	hypoglossal nerve root	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0009906	root of optic nerve	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0019310	glossopharyngeal nerve root	http://purl.obolibrary.org/obo/UBERON_0006843	root of cranial nerve		
http://purl.obolibrary.org/obo/UBERON_0005412	optic fissure	http://purl.obolibrary.org/obo/UBERON_0006846	surface groove		
http://purl.obolibrary.org/obo/UBERON_0005478	sulcus limitans of neural tube	http://purl.obolibrary.org/obo/UBERON_0006846	surface groove		
http://purl.obolibrary.org/obo/UBERON_0005879	pharyngeal cleft	http://purl.obolibrary.org/obo/UBERON_0006846	surface groove		
http://purl.obolibrary.org/obo/UBERON_0001290	proximal straight tubule	http://purl.obolibrary.org/obo/UBERON_0009035	renal straight tubule		
http://purl.obolibrary.org/obo/UBERON_0004134	proximal tubule	http://purl.obolibrary.org/obo/UBERON_0006853	renal cortex tubule		
http://purl.obolibrary.org/obo/UBERON_0003970	placental labyrinth vasculature	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0004521	vasculature of muscle organ	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0006694	cerebellum vasculature	http://purl.obolibrary.org/obo/UBERON_0036303	vasculature of central nervous system		
http://purl.obolibrary.org/obo/UBERON_0007303	pharyngeal vasculature	http://purl.obolibrary.org/obo/UBERON_0006876	vasculature of organ		
http://purl.obolibrary.org/obo/UBERON_0008998	vasculature of brain	http://purl.obolibrary.org/obo/UBERON_0036303	vasculature of central nervous system		
http://purl.obolibrary.org/obo/UBERON_0010337	mandibular process mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0006905	mandibular process mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010336	mandibular process mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010258	mesenchyme from rhombencephalic neural crest		
http://purl.obolibrary.org/obo/UBERON_0010304	non-keratinized stratified squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006915	stratified squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0012329	keratinized stratified squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006915	stratified squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0004650	tongue keratinized epithelium	http://purl.obolibrary.org/obo/UBERON_0012329	keratinized stratified squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0006916	non-keratinized epithelium of tongue	http://purl.obolibrary.org/obo/UBERON_0010304	non-keratinized stratified squamous epithelium		
http://purl.obolibrary.org/obo/UBERON_0002926	gustatory epithelium	http://purl.obolibrary.org/obo/UBERON_0006934	sensory epithelium		
http://purl.obolibrary.org/obo/UBERON_0006932	vestibular epithelium	http://purl.obolibrary.org/obo/UBERON_0006937	inner ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0002223	endolymphatic sac	http://purl.obolibrary.org/obo/UBERON_0007499	epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0003246	epithelium of endolymphatic sac	http://purl.obolibrary.org/obo/UBERON_0006937	inner ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0003362	epithelium of endolymphatic duct	http://purl.obolibrary.org/obo/UBERON_0006937	inner ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0003366	epithelium of uterine horn	http://purl.obolibrary.org/obo/UBERON_0006955	uterine epithelium		
http://purl.obolibrary.org/obo/UBERON_0004801	cervix epithelium	http://purl.obolibrary.org/obo/UBERON_0006955	uterine epithelium		
http://purl.obolibrary.org/obo/UBERON_0012128	nose tip	http://purl.obolibrary.org/obo/UBERON_0006983	anatomical point		
http://purl.obolibrary.org/obo/UBERON_0016418	nasion	http://purl.obolibrary.org/obo/UBERON_0006983	anatomical point		
http://purl.obolibrary.org/obo/UBERON_7500046	proximal-most point of head of femur	http://purl.obolibrary.org/obo/UBERON_0006983	anatomical point		
http://purl.obolibrary.org/obo/UBERON_4200230	surface of bone	http://purl.obolibrary.org/obo/UBERON_0006984	anatomical surface		
http://purl.obolibrary.org/obo/UBERON_0035159	entire surface of organism	http://purl.obolibrary.org/obo/UBERON_0006984	anatomical surface		
http://purl.obolibrary.org/obo/UBERON_0009097	gravid organism	http://purl.obolibrary.org/obo/UBERON_0007023	adult organism		
http://purl.obolibrary.org/obo/UBERON_0016490	auditory system	http://purl.obolibrary.org/obo/UBERON_0007037	mechanosensory system		
http://purl.obolibrary.org/obo/UBERON_0009758	abdominal ganglion	http://purl.obolibrary.org/obo/UBERON_0007134	trunk ganglion		
http://purl.obolibrary.org/obo/UBERON_0007173	lateral border of scapula	http://purl.obolibrary.org/obo/UBERON_0007171	border of scapula		
http://purl.obolibrary.org/obo/UBERON_0007174	medial border of scapula	http://purl.obolibrary.org/obo/UBERON_0007171	border of scapula		
http://purl.obolibrary.org/obo/UBERON_0007175	inferior angle of scapula	http://purl.obolibrary.org/obo/UBERON_0007172	angle of scapula		
http://purl.obolibrary.org/obo/UBERON_0010899	synchronous hermaphroditic organism	http://purl.obolibrary.org/obo/UBERON_0007197	hermaphroditic organism		
http://purl.obolibrary.org/obo/UBERON_0003856	uncondensed odontogenic mesenchyme	http://purl.obolibrary.org/obo/UBERON_0007529	loose mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0009477	associated mesenchyme of otic placode	http://purl.obolibrary.org/obo/UBERON_0007213	mesenchyme derived from head neural crest		
http://purl.obolibrary.org/obo/UBERON_0009500	periotic mesenchyme	http://purl.obolibrary.org/obo/UBERON_0007213	mesenchyme derived from head neural crest		
http://purl.obolibrary.org/obo/UBERON_0009501	mesenchyme of fronto-nasal process	http://purl.obolibrary.org/obo/UBERON_0007213	mesenchyme derived from head neural crest		
http://purl.obolibrary.org/obo/UBERON_0010258	mesenchyme from rhombencephalic neural crest	http://purl.obolibrary.org/obo/UBERON_0014387	mesenchyme derived from neural crest		
http://purl.obolibrary.org/obo/UBERON_0006563	tunica media of pulmonary trunk	http://purl.obolibrary.org/obo/UBERON_0007239	tunica media of artery		
http://purl.obolibrary.org/obo/UBERON_0001715	oculomotor nuclear complex	http://purl.obolibrary.org/obo/UBERON_0019267	gray matter of midbrain		
http://purl.obolibrary.org/obo/UBERON_0002128	superior olivary complex	http://purl.obolibrary.org/obo/UBERON_0019263	gray matter of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0002673	vestibular nuclear complex	http://purl.obolibrary.org/obo/UBERON_0019263	gray matter of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0007641	trigeminal nuclear complex	http://purl.obolibrary.org/obo/UBERON_0007245	nuclear complex of neuraxis		
http://purl.obolibrary.org/obo/UBERON_0010225	thalamic complex	http://purl.obolibrary.org/obo/UBERON_0019269	gray matter of diencephalon		
http://purl.obolibrary.org/obo/UBERON_0007260	intervertebral disk of third cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0007252	intervertebral disk of cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0007261	intervertebral disk of fourth cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0007252	intervertebral disk of cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0007262	intervertebral disk of fifth cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0007252	intervertebral disk of cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0007263	intervertebral disk of sixth cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0007252	intervertebral disk of cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0007264	intervertebral disk of seventh cervical vertebra	http://purl.obolibrary.org/obo/UBERON_0007252	intervertebral disk of cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0007265	intervertebral disk of axis	http://purl.obolibrary.org/obo/UBERON_0007252	intervertebral disk of cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0007266	intervertebral disk of atlas	http://purl.obolibrary.org/obo/UBERON_0007252	intervertebral disk of cervical vertebra		
http://purl.obolibrary.org/obo/UBERON_0004480	musculature of limb	http://purl.obolibrary.org/obo/UBERON_0007271	appendage musculature		
http://purl.obolibrary.org/obo/UBERON_0007269	pectoral appendage musculature	http://purl.obolibrary.org/obo/UBERON_0014793	musculature of pectoral complex		
http://purl.obolibrary.org/obo/UBERON_0007270	pelvic appendage musculature	http://purl.obolibrary.org/obo/UBERON_0014792	musculature of pelvic complex		
http://purl.obolibrary.org/obo/UBERON_0003514	limb blood vessel	http://purl.obolibrary.org/obo/UBERON_0007301	appendage blood vessel		
http://purl.obolibrary.org/obo/UBERON_0007300	pectoral appendage blood vessel	http://purl.obolibrary.org/obo/UBERON_0007301	appendage blood vessel		
http://purl.obolibrary.org/obo/UBERON_0007302	pectoral appendage vasculature	http://purl.obolibrary.org/obo/UBERON_0007304	appendage vasculature		
http://purl.obolibrary.org/obo/UBERON_0001363	great saphenous vein	http://purl.obolibrary.org/obo/UBERON_0007318	saphenous vein		
http://purl.obolibrary.org/obo/UBERON_0001547	small saphenous vein	http://purl.obolibrary.org/obo/UBERON_0007318	saphenous vein		
http://purl.obolibrary.org/obo/UBERON_0015280	pancreas left lobe	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0015281	pancreas right lobe	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0007371	superior surface of tongue	http://purl.obolibrary.org/obo/UBERON_0007367	surface of tongue		
http://purl.obolibrary.org/obo/UBERON_0007373	inferior surface of tongue	http://purl.obolibrary.org/obo/UBERON_0007367	surface of tongue		
http://purl.obolibrary.org/obo/UBERON_0001716	secondary palate	http://purl.obolibrary.org/obo/UBERON_0007375	roof of mouth		
http://purl.obolibrary.org/obo/UBERON_0001003	skin epidermis	http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure		
http://purl.obolibrary.org/obo/UBERON_0007385	pectoral appendage lymph vessel	http://purl.obolibrary.org/obo/UBERON_0007384	appendage lymph vessel		
http://purl.obolibrary.org/obo/UBERON_0007386	pelvic appendage lymph vessel	http://purl.obolibrary.org/obo/UBERON_0007384	appendage lymph vessel		
http://purl.obolibrary.org/obo/UBERON_0007390	pectoral appendage cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0007389	paired limb/fin cartilage		
http://purl.obolibrary.org/obo/UBERON_0007391	pelvic appendage cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0007389	paired limb/fin cartilage		
http://purl.obolibrary.org/obo/UBERON_0002787	decussation of trochlear nerve	http://purl.obolibrary.org/obo/UBERON_0007418	neural decussation		
http://purl.obolibrary.org/obo/UBERON_0007425	decussation of diencephalon	http://purl.obolibrary.org/obo/UBERON_0007418	neural decussation		
http://purl.obolibrary.org/obo/UBERON_0000959	optic chiasma	http://purl.obolibrary.org/obo/UBERON_0007425	decussation of diencephalon		
http://purl.obolibrary.org/obo/UBERON_0007501	arborizing epithelial duct system	http://purl.obolibrary.org/obo/UBERON_0007499	epithelial sac		
http://purl.obolibrary.org/obo/UBERON_0008969	dental follicle	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0014706	primitive renal collecting duct system	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0004209	renal vesicle	http://purl.obolibrary.org/obo/UBERON_0007503	epithelial vesicle		
http://purl.obolibrary.org/obo/UBERON_0011921	connecting stalk blood islands	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0005856	developing mesenchymal condensation	http://purl.obolibrary.org/obo/UBERON_0011585	cell condensation		
http://purl.obolibrary.org/obo/UBERON_0009505	mesenchyme of trachea	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0010221	laryngeal associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0010257	6th arch mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010359	pharyngeal arch mesenchyme from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010338	1st arch maxillary mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010341	1st arch mesenchyme from head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010347	6th arch mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010360	pharyngeal arch mesenchyme from head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0011203	urachus mesenchyme	http://purl.obolibrary.org/obo/UBERON_0007524	dense mesenchyme tissue		
http://purl.obolibrary.org/obo/UBERON_0010499	pseudostratified ciliated columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0010498	pseudostratified columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0004670	ependyma	http://purl.obolibrary.org/obo/UBERON_0010371	ecto-epithelium		
http://purl.obolibrary.org/obo/UBERON_0007606	ciliated stratified columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0007602	stratified columnar epithelium		
http://purl.obolibrary.org/obo/UBERON_0007618	synovial cavity of hip joint	http://purl.obolibrary.org/obo/UBERON_0007617	synovial cavity of joint		
http://purl.obolibrary.org/obo/UBERON_0001788	outer limiting layer of retina	http://purl.obolibrary.org/obo/UBERON_0007619	limiting membrane of retina		
http://purl.obolibrary.org/obo/UBERON_0001794	inner limiting layer of retina	http://purl.obolibrary.org/obo/UBERON_0007619	limiting membrane of retina		
http://purl.obolibrary.org/obo/UBERON_0001720	cochlear nucleus	http://purl.obolibrary.org/obo/UBERON_0007635	nucleus of medulla oblongata		
http://purl.obolibrary.org/obo/UBERON_0007228	vestibular nucleus	http://purl.obolibrary.org/obo/UBERON_0007635	nucleus of medulla oblongata		
http://purl.obolibrary.org/obo/UBERON_0007646	endomeninx	http://purl.obolibrary.org/obo/UBERON_0007645	future meninx		
http://purl.obolibrary.org/obo/UBERON_0007647	ectomeninx	http://purl.obolibrary.org/obo/UBERON_0007645	future meninx		
http://purl.obolibrary.org/obo/UBERON_0001810	nerve plexus	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0003988	thymus corticomedullary boundary	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0005075	forebrain-midbrain boundary	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0005076	hindbrain-spinal cord boundary	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0006264	mouth-foregut junction	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0006742	canthus	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0006761	corneo-scleral junction	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0009917	kidney corticomedullary boundary	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0009972	ureteropelvic junction	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0011820	atrioventricular region	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0015178	somite border	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0018239	rhombomere boundary	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_1100000	digestive tract junction	http://purl.obolibrary.org/obo/UBERON_0007651	anatomical junction		
http://purl.obolibrary.org/obo/UBERON_0001288	loop of Henle	http://purl.obolibrary.org/obo/UBERON_0007685	region of nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0001289	descending limb of loop of Henle	http://purl.obolibrary.org/obo/UBERON_0007685	region of nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0004135	distal tubule	http://purl.obolibrary.org/obo/UBERON_0007685	region of nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0004136	intermediate tubule	http://purl.obolibrary.org/obo/UBERON_0007685	region of nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0006534	renal convoluted tubule	http://purl.obolibrary.org/obo/UBERON_0007685	region of nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0006853	renal cortex tubule	http://purl.obolibrary.org/obo/UBERON_0007685	region of nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0009035	renal straight tubule	http://purl.obolibrary.org/obo/UBERON_0007685	region of nephron tubule		
http://purl.obolibrary.org/obo/UBERON_0022361	lung field	http://purl.obolibrary.org/obo/UBERON_0007688	anlage		
http://purl.obolibrary.org/obo/UBERON_0002265	olfactory tract	http://purl.obolibrary.org/obo/UBERON_0007702	tract of brain		
http://purl.obolibrary.org/obo/UBERON_0011591	tract of diencephalon	http://purl.obolibrary.org/obo/UBERON_0007702	tract of brain		
http://purl.obolibrary.org/obo/UBERON_0006435	os penis	http://purl.obolibrary.org/obo/UBERON_0007719	bone of reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0006440	os clitoris	http://purl.obolibrary.org/obo/UBERON_0007719	bone of reproductive organ		
http://purl.obolibrary.org/obo/UBERON_0007724	interphalangeal joint of pedal digit 1	http://purl.obolibrary.org/obo/UBERON_0007721	interphalangeal joint of pes		
http://purl.obolibrary.org/obo/UBERON_0007725	interphalangeal joint of pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0007721	interphalangeal joint of pes		
http://purl.obolibrary.org/obo/UBERON_0007726	interphalangeal joint of pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0007721	interphalangeal joint of pes		
http://purl.obolibrary.org/obo/UBERON_0007727	interphalangeal joint of pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0007721	interphalangeal joint of pes		
http://purl.obolibrary.org/obo/UBERON_0007728	interphalangeal joint of pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0007721	interphalangeal joint of pes		
http://purl.obolibrary.org/obo/UBERON_0007723	interphalangeal joint of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0007722	interphalangeal joint of manus		
http://purl.obolibrary.org/obo/UBERON_0007729	interphalangeal joint of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0007722	interphalangeal joint of manus		
http://purl.obolibrary.org/obo/UBERON_0007730	interphalangeal joint of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0007722	interphalangeal joint of manus		
http://purl.obolibrary.org/obo/UBERON_0007731	interphalangeal joint of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0007722	interphalangeal joint of manus		
http://purl.obolibrary.org/obo/UBERON_0007732	interphalangeal joint of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0007722	interphalangeal joint of manus		
http://purl.obolibrary.org/obo/UBERON_0014672	distal interphalangeal joint of pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0014677	distal interphalangeal joint of digit 2		
http://purl.obolibrary.org/obo/UBERON_0014507	distal interphalangeal joint of pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0014506	distal interphalangeal joint of digit 3		
http://purl.obolibrary.org/obo/UBERON_0014674	distal interphalangeal joint of pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0014679	distal interphalangeal joint of digit 4		
http://purl.obolibrary.org/obo/UBERON_0014675	distal interphalangeal joint of pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0014680	distal interphalangeal joint of digit 5		
http://purl.obolibrary.org/obo/UBERON_0014668	distal interphalangeal joint of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0014677	distal interphalangeal joint of digit 2		
http://purl.obolibrary.org/obo/UBERON_0014508	distal interphalangeal joint of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0014506	distal interphalangeal joint of digit 3		
http://purl.obolibrary.org/obo/UBERON_0014670	distal interphalangeal joint of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0014679	distal interphalangeal joint of digit 4		
http://purl.obolibrary.org/obo/UBERON_0014671	distal interphalangeal joint of manural digit 5	http://purl.obolibrary.org/obo/UBERON_0014680	distal interphalangeal joint of digit 5		
http://purl.obolibrary.org/obo/UBERON_0016426	proximal interphalangeal joint of little finger	http://purl.obolibrary.org/obo/UBERON_0009767	proximal interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0001821	sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0019319	exocrine gland of integumental system		
http://purl.obolibrary.org/obo/UBERON_0001090	synovial fluid	http://purl.obolibrary.org/obo/UBERON_0007794	secretion of serous gland		
http://purl.obolibrary.org/obo/UBERON_0001268	peritoneal fluid	http://purl.obolibrary.org/obo/UBERON_0036217	coelomic fluid		
http://purl.obolibrary.org/obo/UBERON_0001359	cerebrospinal fluid	http://purl.obolibrary.org/obo/UBERON_0007779	transudate		
http://purl.obolibrary.org/obo/UBERON_0002409	pericardial fluid	http://purl.obolibrary.org/obo/UBERON_0036217	coelomic fluid		
http://purl.obolibrary.org/obo/UBERON_0014454	visceral abdominal adipose tissue	http://purl.obolibrary.org/obo/UBERON_0007808	adipose tissue of abdominal region		
http://purl.obolibrary.org/obo/UBERON_8450003	embryonic craniocervical region	http://purl.obolibrary.org/obo/UBERON_0007811	craniocervical region		
http://purl.obolibrary.org/obo/UBERON_0001271	pelvic girdle region	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001421	pectoral girdle region	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0007829	pectoral girdle bone	http://purl.obolibrary.org/obo/UBERON_0010741	bone of pectoral complex		
http://purl.obolibrary.org/obo/UBERON_0001272	innominate bone	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0011090	skeleton of right pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0007832	pelvic girdle skeleton		
http://purl.obolibrary.org/obo/UBERON_0011091	skeleton of left pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0007832	pelvic girdle skeleton		
http://purl.obolibrary.org/obo/UBERON_0011628	early premaxilla	http://purl.obolibrary.org/obo/UBERON_0011597	bone of upper jaw		
http://purl.obolibrary.org/obo/UBERON_0001867	cartilage of external ear	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0002236	costal cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0003406	cartilage of respiratory system	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0003601	neck cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0003933	cranial cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0006290	scapula cartilage element	http://purl.obolibrary.org/obo/UBERON_0015057	scapula endochondral element		
http://purl.obolibrary.org/obo/UBERON_0007354	cartilage of pharyngotympanic tube	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0009291	cartilaginous vertebral centrum	http://purl.obolibrary.org/obo/UBERON_0016491	vertebral centrum element		
http://purl.obolibrary.org/obo/UBERON_0010881	limb cartilage element	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0011094	vertebra cartilage element	http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element		
http://purl.obolibrary.org/obo/UBERON_0011135	intervertebral cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0013632	sesamoid cartilage	http://purl.obolibrary.org/obo/UBERON_0013631	sesamoid element		
http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage	http://purl.obolibrary.org/obo/UBERON_0007844	cartilage element		
http://purl.obolibrary.org/obo/UBERON_0007846	dense regular connective tissue	http://purl.obolibrary.org/obo/UBERON_0011823	dense connective tissue		
http://purl.obolibrary.org/obo/UBERON_0000043	tendon	http://purl.obolibrary.org/obo/UBERON_0007846	dense regular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0008982	fascia	http://purl.obolibrary.org/obo/UBERON_0007846	dense regular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0003457	head bone	http://purl.obolibrary.org/obo/UBERON_0007914	bone of craniocervical region		
http://purl.obolibrary.org/obo/UBERON_0001685	hyoid bone	http://purl.obolibrary.org/obo/UBERON_0008001	irregular bone		
http://purl.obolibrary.org/obo/UBERON_0002396	vomer	http://purl.obolibrary.org/obo/UBERON_0012071	palate bone		
http://purl.obolibrary.org/obo/UBERON_0001678	temporal bone	http://purl.obolibrary.org/obo/UBERON_0008193	pneumatized bone		
http://purl.obolibrary.org/obo/UBERON_0004461	skeletal musculature of head	http://purl.obolibrary.org/obo/UBERON_0008229	craniocervical region musculature		
http://purl.obolibrary.org/obo/UBERON_0004473	musculature of face	http://purl.obolibrary.org/obo/UBERON_0008229	craniocervical region musculature		
http://purl.obolibrary.org/obo/UBERON_0004699	outflow tract endothelium	http://purl.obolibrary.org/obo/UBERON_0008307	heart endothelium		
http://purl.obolibrary.org/obo/UBERON_0005316	endocardial endothelium	http://purl.obolibrary.org/obo/UBERON_0008307	heart endothelium		
http://purl.obolibrary.org/obo/UBERON_0001915	endothelium of capillary	http://purl.obolibrary.org/obo/UBERON_0008339	microvascular endothelium		
http://purl.obolibrary.org/obo/UBERON_0002031	epithelium of bronchus	http://purl.obolibrary.org/obo/UBERON_0008397	tracheobronchial epithelium		
http://purl.obolibrary.org/obo/UBERON_0000983	metatarsus region	http://purl.obolibrary.org/obo/UBERON_0009877	metapodium region		
http://purl.obolibrary.org/obo/UBERON_0001465	knee	http://purl.obolibrary.org/obo/UBERON_0008784	lower limb segment		
http://purl.obolibrary.org/obo/UBERON_0005445	segment of pes	http://purl.obolibrary.org/obo/UBERON_0012139	segment of autopod		
http://purl.obolibrary.org/obo/UBERON_0005451	segment of manus	http://purl.obolibrary.org/obo/UBERON_0012139	segment of autopod		
http://purl.obolibrary.org/obo/UBERON_0003720	anterior cranial fossa	http://purl.obolibrary.org/obo/UBERON_0008789	cranial fossa		
http://purl.obolibrary.org/obo/UBERON_0003722	middle cranial fossa	http://purl.obolibrary.org/obo/UBERON_0008789	cranial fossa		
http://purl.obolibrary.org/obo/UBERON_0008788	posterior cranial fossa	http://purl.obolibrary.org/obo/UBERON_0008789	cranial fossa		
http://purl.obolibrary.org/obo/UBERON_0001743	ligament of larynx	http://purl.obolibrary.org/obo/UBERON_0008845	nonskeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0008266	periodontal ligament	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0011088	ligament of knee joint	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0011136	ligament of vertebral column	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0011875	ligament of sternoclavicular joint	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0011972	medial ligament of ankle joint	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_0034736	coracoclavicular ligament	http://purl.obolibrary.org/obo/UBERON_0008846	skeletal ligament		
http://purl.obolibrary.org/obo/UBERON_4000162	median fin	http://purl.obolibrary.org/obo/UBERON_0008897	fin		
http://purl.obolibrary.org/obo/UBERON_0008870	pulmonary alveolar parenchyma	http://purl.obolibrary.org/obo/UBERON_0008946	lung parenchyma		
http://purl.obolibrary.org/obo/UBERON_0003460	arm bone	http://purl.obolibrary.org/obo/UBERON_0008962	forelimb bone		
http://purl.obolibrary.org/obo/UBERON_0005897	manus bone	http://purl.obolibrary.org/obo/UBERON_0011250	autopod bone		
http://purl.obolibrary.org/obo/UBERON_0013718	dartos muscle	http://purl.obolibrary.org/obo/UBERON_0008982	fascia		
http://purl.obolibrary.org/obo/UBERON_0001311	inferior vesical artery	http://purl.obolibrary.org/obo/UBERON_0009027	vesical artery		
http://purl.obolibrary.org/obo/UBERON_0018252	internal pudendal vein	http://purl.obolibrary.org/obo/UBERON_0009029	pudendal vein		
http://purl.obolibrary.org/obo/UBERON_0001701	glossopharyngeal ganglion	http://purl.obolibrary.org/obo/UBERON_0009127	epibranchial ganglion		
http://purl.obolibrary.org/obo/UBERON_0005362	vagus X ganglion	http://purl.obolibrary.org/obo/UBERON_0009127	epibranchial ganglion		
http://purl.obolibrary.org/obo/UBERON_0011191	ophthalmic vein	http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein		
http://purl.obolibrary.org/obo/UBERON_0003685	cranial suture	http://purl.obolibrary.org/obo/UBERON_0009198	craniofacial suture		
http://purl.obolibrary.org/obo/UBERON_0009199	facial suture	http://purl.obolibrary.org/obo/UBERON_0009198	craniofacial suture		
http://purl.obolibrary.org/obo/UBERON_7500107	sphenovomerine suture	http://purl.obolibrary.org/obo/UBERON_0009199	facial suture		
http://purl.obolibrary.org/obo/UBERON_0003060	pronephric duct	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0009213	pharyngeal membrane of 1st arch	http://purl.obolibrary.org/obo/UBERON_0009210	pharyngeal membrane		
http://purl.obolibrary.org/obo/UBERON_0004066	frontonasal prominence	http://purl.obolibrary.org/obo/UBERON_0009292	embryonic nasal process		
http://purl.obolibrary.org/obo/UBERON_0004067	lateral nasal prominence	http://purl.obolibrary.org/obo/UBERON_0009292	embryonic nasal process		
http://purl.obolibrary.org/obo/UBERON_0004068	medial nasal prominence	http://purl.obolibrary.org/obo/UBERON_0009292	embryonic nasal process		
http://purl.obolibrary.org/obo/UBERON_0005689	2nd arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009494	pharyngeal arch mesenchymal region		
http://purl.obolibrary.org/obo/UBERON_0005690	3rd arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009494	pharyngeal arch mesenchymal region		
http://purl.obolibrary.org/obo/UBERON_0005691	4th arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009494	pharyngeal arch mesenchymal region		
http://purl.obolibrary.org/obo/UBERON_0010031	6th arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009494	pharyngeal arch mesenchymal region		
http://purl.obolibrary.org/obo/UBERON_0010042	1st arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009494	pharyngeal arch mesenchymal region		
http://purl.obolibrary.org/obo/UBERON_0013502	5th arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009494	pharyngeal arch mesenchymal region		
http://purl.obolibrary.org/obo/UBERON_0009204	medial nasal process mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009501	mesenchyme of fronto-nasal process		
http://purl.obolibrary.org/obo/UBERON_0009205	lateral nasal process mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009501	mesenchyme of fronto-nasal process		
http://purl.obolibrary.org/obo/UBERON_0010334	maxillary process mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010258	mesenchyme from rhombencephalic neural crest		
http://purl.obolibrary.org/obo/UBERON_0001705	nail	http://purl.obolibrary.org/obo/UBERON_0009564	distal limb integumentary appendage		
http://purl.obolibrary.org/obo/UBERON_0011273	nail of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0009565	nail of manual digit		
http://purl.obolibrary.org/obo/UBERON_0011274	nail of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0009565	nail of manual digit		
http://purl.obolibrary.org/obo/UBERON_0011275	nail of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0009565	nail of manual digit		
http://purl.obolibrary.org/obo/UBERON_0011276	nail of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0009565	nail of manual digit		
http://purl.obolibrary.org/obo/UBERON_0011277	nail of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0009565	nail of manual digit		
http://purl.obolibrary.org/obo/UBERON_0001205	submucosa of small intestine	http://purl.obolibrary.org/obo/UBERON_0009566	intestinal submucosa		
http://purl.obolibrary.org/obo/UBERON_0001208	submucosa of large intestine	http://purl.obolibrary.org/obo/UBERON_0009566	intestinal submucosa		
http://purl.obolibrary.org/obo/UBERON_0011278	nail of pedal digit 1	http://purl.obolibrary.org/obo/UBERON_0009567	nail of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0011279	nail of pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0009567	nail of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0011280	nail of pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0009567	nail of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0011281	nail of pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0009567	nail of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0011282	nail of pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0009567	nail of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0000915	thoracic segment of trunk	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0000916	abdomen	http://purl.obolibrary.org/obo/UBERON_0009569	subdivision of trunk		
http://purl.obolibrary.org/obo/UBERON_0001443	chest	http://purl.obolibrary.org/obo/UBERON_0009569	subdivision of trunk		
http://purl.obolibrary.org/obo/UBERON_0002417	abdominal segment of trunk	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0005462	lower back	http://purl.obolibrary.org/obo/UBERON_0009569	subdivision of trunk		
http://purl.obolibrary.org/obo/UBERON_0011270	dorsal trunk	http://purl.obolibrary.org/obo/UBERON_0009569	subdivision of trunk		
http://purl.obolibrary.org/obo/UBERON_0010252	1st arch mandibular mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010259	1st arch mesenchyme from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010339	1st arch mandibular mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010341	1st arch mesenchyme from head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009630	root of thoracic nerve	http://purl.obolibrary.org/obo/UBERON_0009623	spinal nerve root		
http://purl.obolibrary.org/obo/UBERON_0009631	root of lumbar spinal nerve	http://purl.obolibrary.org/obo/UBERON_0009623	spinal nerve root		
http://purl.obolibrary.org/obo/UBERON_0009632	root of cervical nerve	http://purl.obolibrary.org/obo/UBERON_0009623	spinal nerve root		
http://purl.obolibrary.org/obo/UBERON_0009633	root of sacral nerve	http://purl.obolibrary.org/obo/UBERON_0009623	spinal nerve root		
http://purl.obolibrary.org/obo/UBERON_0005042	inner epithelial layer of tympanic membrane	http://purl.obolibrary.org/obo/UBERON_0009647	tympanic membrane epithelium		
http://purl.obolibrary.org/obo/UBERON_0010069	outer epithelial layer of tympanic membrane	http://purl.obolibrary.org/obo/UBERON_0015814	outer ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0014695	deep auricular artery	http://purl.obolibrary.org/obo/UBERON_0009655	auricular artery		
http://purl.obolibrary.org/obo/UBERON_0009679	set of lower jaw teeth	http://purl.obolibrary.org/obo/UBERON_0009678	tooth row		
http://purl.obolibrary.org/obo/UBERON_0009680	set of upper jaw teeth	http://purl.obolibrary.org/obo/UBERON_0009678	tooth row		
http://purl.obolibrary.org/obo/UBERON_0003859	forelimb mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009749	limb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003860	hindlimb mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009749	limb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010702	digit mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009749	limb mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0014506	distal interphalangeal joint of digit 3	http://purl.obolibrary.org/obo/UBERON_0009768	distal interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0014677	distal interphalangeal joint of digit 2	http://purl.obolibrary.org/obo/UBERON_0009768	distal interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0014679	distal interphalangeal joint of digit 4	http://purl.obolibrary.org/obo/UBERON_0009768	distal interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0014680	distal interphalangeal joint of digit 5	http://purl.obolibrary.org/obo/UBERON_0009768	distal interphalangeal joint		
http://purl.obolibrary.org/obo/UBERON_0001172	hepatic acinus	http://purl.obolibrary.org/obo/UBERON_0011858	acinus of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0011858	acinus of exocrine gland	http://purl.obolibrary.org/obo/UBERON_0009842	glandular acinus		
http://purl.obolibrary.org/obo/UBERON_0004902	urogenital sinus epithelium	http://purl.obolibrary.org/obo/UBERON_0009846	embryonic cloacal epithelium		
http://purl.obolibrary.org/obo/UBERON_0001153	caecum	http://purl.obolibrary.org/obo/UBERON_0009854	digestive tract diverticulum		
http://purl.obolibrary.org/obo/UBERON_0001161	body of stomach	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0001160	fundus of stomach	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0001162	cardia of stomach	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0001165	pyloric antrum	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0001166	pylorus	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0001164	greater curvature of stomach	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0008858	pyloric canal	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0011953	stomach glandular region	http://purl.obolibrary.org/obo/UBERON_0009870	zone of stomach		
http://purl.obolibrary.org/obo/UBERON_0009879	tarsal skeleton	http://purl.obolibrary.org/obo/UBERON_0009878	mesopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_0009880	carpal skeleton	http://purl.obolibrary.org/obo/UBERON_0009878	mesopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_0003314	eye mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009891	facial mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003323	mesenchyme of upper jaw	http://purl.obolibrary.org/obo/UBERON_0034995	jaw mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0001171	portal lobule	http://purl.obolibrary.org/obo/UBERON_0009911	lobule		
http://purl.obolibrary.org/obo/UBERON_0001912	lobule of mammary gland	http://purl.obolibrary.org/obo/UBERON_0009911	lobule		
http://purl.obolibrary.org/obo/UBERON_0002125	thymus lobule	http://purl.obolibrary.org/obo/UBERON_0009911	lobule		
http://purl.obolibrary.org/obo/UBERON_0009914	renal lobule	http://purl.obolibrary.org/obo/UBERON_0009911	lobule		
http://purl.obolibrary.org/obo/UBERON_0010368	pulmonary lobule	http://purl.obolibrary.org/obo/UBERON_0009911	lobule		
http://purl.obolibrary.org/obo/UBERON_0000101	lobe of lung	http://purl.obolibrary.org/obo/UBERON_0009912	anatomical lobe		
http://purl.obolibrary.org/obo/UBERON_0001113	lobe of liver	http://purl.obolibrary.org/obo/UBERON_0009912	anatomical lobe		
http://purl.obolibrary.org/obo/UBERON_0001118	lobe of thyroid gland	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0005483	thymus lobe	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0009913	renal lobe	http://purl.obolibrary.org/obo/UBERON_0009912	anatomical lobe		
http://purl.obolibrary.org/obo/UBERON_0018140	mammary lobe	http://purl.obolibrary.org/obo/UBERON_0009912	anatomical lobe		
http://purl.obolibrary.org/obo/UBERON_0036375	wall of right ureter	http://purl.obolibrary.org/obo/UBERON_0009916	wall of ureter		
http://purl.obolibrary.org/obo/UBERON_0036376	wall of left ureter	http://purl.obolibrary.org/obo/UBERON_0009916	wall of ureter		
http://purl.obolibrary.org/obo/UBERON_0005376	olfactory bulb external plexiform layer	http://purl.obolibrary.org/obo/UBERON_0009950	olfactory bulb plexiform layer		
http://purl.obolibrary.org/obo/UBERON_0035597	profundal placode	http://purl.obolibrary.org/obo/UBERON_0009955	neurogenic placode		
http://purl.obolibrary.org/obo/UBERON_0003050	olfactory placode	http://purl.obolibrary.org/obo/UBERON_0009955	neurogenic placode		
http://purl.obolibrary.org/obo/UBERON_0003067	dorsolateral placode	http://purl.obolibrary.org/obo/UBERON_0009955	neurogenic placode		
http://purl.obolibrary.org/obo/UBERON_0003078	epibranchial placode	http://purl.obolibrary.org/obo/UBERON_0009955	neurogenic placode		
http://purl.obolibrary.org/obo/UBERON_0006807	ectepicondyle of humerus	http://purl.obolibrary.org/obo/UBERON_0016497	epicondyle of humerus		
http://purl.obolibrary.org/obo/UBERON_0000964	cornea	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0000062	organ	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000064	organ part	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000468	multicellular organism	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000475	organism subdivision	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000479	tissue	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0000481	multi-tissue structure	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0003947	brain ventricle/choroid plexus	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004111	anatomical conduit	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0004202	kidney outer medulla outer stripe	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005156	reproductive structure	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0005619	secondary palatal shelf	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0013150	future brain vesicle	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0018149	angle of oral opening	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster	http://purl.obolibrary.org/obo/UBERON_0010000	multicellular anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone	http://purl.obolibrary.org/obo/UBERON_0010314	structure with developmental contribution from neural crest		
http://purl.obolibrary.org/obo/UBERON_0034978	paraganglion (generic)	http://purl.obolibrary.org/obo/UBERON_0010313	neural crest-derived structure		
http://purl.obolibrary.org/obo/UBERON_0010011	collection of basal ganglia	http://purl.obolibrary.org/obo/UBERON_0010009	aggregate regional part of brain		
http://purl.obolibrary.org/obo/UBERON_0009584	1st arch mandibular mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010042	1st arch mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010045	1st arch maxillary mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010042	1st arch mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010259	1st arch mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010359	pharyngeal arch mesenchyme from neural crest		
http://purl.obolibrary.org/obo/UBERON_0010341	1st arch mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010360	pharyngeal arch mesenchyme from head mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010253	1st arch maxillary mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010259	1st arch mesenchyme from neural crest		
http://purl.obolibrary.org/obo/UBERON_0001044	saliva-secreting gland	http://purl.obolibrary.org/obo/UBERON_0010047	oral gland		
http://purl.obolibrary.org/obo/UBERON_0003409	gland of tongue	http://purl.obolibrary.org/obo/UBERON_0010047	oral gland		
http://purl.obolibrary.org/obo/UBERON_0009647	tympanic membrane epithelium	http://purl.obolibrary.org/obo/UBERON_0015813	middle ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0010070	intermediate layer of tympanic membrane	http://purl.obolibrary.org/obo/UBERON_0010071	layer of tympanic membrane		
http://purl.obolibrary.org/obo/UBERON_0006871	embryonic footplate	http://purl.obolibrary.org/obo/UBERON_0010130	embryonic autopod plate		
http://purl.obolibrary.org/obo/UBERON_0006875	embryonic handplate	http://purl.obolibrary.org/obo/UBERON_0010130	embryonic autopod plate		
http://purl.obolibrary.org/obo/UBERON_0002353	bundle of His	http://purl.obolibrary.org/obo/UBERON_0018649	cardiac muscle tissue of ventricle		
http://purl.obolibrary.org/obo/UBERON_0004146	His-Purkinje system	http://purl.obolibrary.org/obo/UBERON_0018649	cardiac muscle tissue of ventricle		
http://purl.obolibrary.org/obo/UBERON_0011830	duct of lesser vestibular gland	http://purl.obolibrary.org/obo/UBERON_0011831	duct of vestibular gland		
http://purl.obolibrary.org/obo/UBERON_0034940	venous sinus cavity	http://purl.obolibrary.org/obo/UBERON_0010161	lumen of blood vessel		
http://purl.obolibrary.org/obo/UBERON_0014399	sinusoidal space	http://purl.obolibrary.org/obo/UBERON_0010161	lumen of blood vessel		
http://purl.obolibrary.org/obo/UBERON_0014382	collection of hairs on head or neck	http://purl.obolibrary.org/obo/UBERON_0010164	collection of hairs		
http://purl.obolibrary.org/obo/UBERON_0010167	beard	http://purl.obolibrary.org/obo/UBERON_0010165	collection of hair on face		
http://purl.obolibrary.org/obo/UBERON_0010163	eyebrow	http://purl.obolibrary.org/obo/UBERON_0010165	collection of hair on face		
http://purl.obolibrary.org/obo/UBERON_0010168	collection of eyelashes	http://purl.obolibrary.org/obo/UBERON_0010165	collection of hair on face		
http://purl.obolibrary.org/obo/UBERON_1000006	collection of hair on forehead	http://purl.obolibrary.org/obo/UBERON_0010165	collection of hair on face		
http://purl.obolibrary.org/obo/UBERON_0011931	nasal hair	http://purl.obolibrary.org/obo/UBERON_0010171	strand of hair of face		
http://purl.obolibrary.org/obo/UBERON_0001187	testicular artery	http://purl.obolibrary.org/obo/UBERON_0010192	genital artery		
http://purl.obolibrary.org/obo/UBERON_0006984	anatomical surface	http://purl.obolibrary.org/obo/UBERON_0010199	bona-fide anatomical boundary		
http://purl.obolibrary.org/obo/UBERON_0003691	epidural space	http://purl.obolibrary.org/obo/UBERON_0010276	space in vertebral column		
http://purl.obolibrary.org/obo/UBERON_0006763	epithelium of conjunctiva	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0001751	dentine	http://purl.obolibrary.org/obo/UBERON_4000013	mineralized skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_0004768	bone of lower jaw	http://purl.obolibrary.org/obo/UBERON_0012360	bone of jaw		
http://purl.obolibrary.org/obo/UBERON_0010074	chromaffin system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0011156	facial skeleton	http://purl.obolibrary.org/obo/UBERON_0011158	primary subdivision of skull		
http://purl.obolibrary.org/obo/UBERON_0011587	pre-dentine	http://purl.obolibrary.org/obo/UBERON_0010365	odontoid tissue		
http://purl.obolibrary.org/obo/UBERON_0000403	scalp	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0000014	zone of skin	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0001708	jaw skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0000011	parasympathetic nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0002199	integument	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000923	germ layer	http://purl.obolibrary.org/obo/UBERON_0010316	germ layer / neural crest		
http://purl.obolibrary.org/obo/UBERON_0003412	pelvic appendage bud mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010329	paired limb/fin bud mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003413	pectoral appendage bud mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010329	paired limb/fin bud mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0010328	limb bud mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010329	paired limb/fin bud mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003857	upper eyelid mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010330	eyelid mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003858	lower eyelid mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010330	eyelid mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0003316	mesenchyme of yolk sac	http://purl.obolibrary.org/obo/UBERON_0010333	extraembryonic membrane mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0009638	orbitosphenoid ossification center	http://purl.obolibrary.org/obo/UBERON_0010355	ossification center		
http://purl.obolibrary.org/obo/UBERON_0005814	arch of atlas	http://purl.obolibrary.org/obo/UBERON_0010358	arch of centrum of vertebra		
http://purl.obolibrary.org/obo/UBERON_0006063	cartilaginous neural arch	http://purl.obolibrary.org/obo/UBERON_0010358	arch of centrum of vertebra		
http://purl.obolibrary.org/obo/UBERON_0035130	auditory ossicle endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0004637	otic capsule	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015019	rib endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015057	scapula endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015059	orbitosphenoid endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015060	sphenoid endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element	http://purl.obolibrary.org/obo/UBERON_0010363	endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001752	enamel	http://purl.obolibrary.org/obo/UBERON_4000013	mineralized skeletal tissue		
http://purl.obolibrary.org/obo/UBERON_0001753	cementum	http://purl.obolibrary.org/obo/UBERON_0010365	odontoid tissue		
http://purl.obolibrary.org/obo/UBERON_0011588	pre-enamel	http://purl.obolibrary.org/obo/UBERON_0010365	odontoid tissue		
http://purl.obolibrary.org/obo/UBERON_0010369	secondary pulmonary lobule	http://purl.obolibrary.org/obo/UBERON_0010368	pulmonary lobule		
http://purl.obolibrary.org/obo/UBERON_0001545	anterior tibial vein	http://purl.obolibrary.org/obo/UBERON_0010370	tibial vein		
http://purl.obolibrary.org/obo/UBERON_0003098	optic stalk	http://purl.obolibrary.org/obo/UBERON_0034705	developing neuroepithelium		
http://purl.obolibrary.org/obo/UBERON_0009970	epithelium of pancreatic duct	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0003328	mesenchyme of footplate	http://purl.obolibrary.org/obo/UBERON_0010377	mesenchyme from somatopleure		
http://purl.obolibrary.org/obo/UBERON_0009523	mesenchyme of handplate	http://purl.obolibrary.org/obo/UBERON_0010377	mesenchyme from somatopleure		
http://purl.obolibrary.org/obo/UBERON_0010329	paired limb/fin bud mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010377	mesenchyme from somatopleure		
http://purl.obolibrary.org/obo/UBERON_0010416	lymph node B cell domain	http://purl.obolibrary.org/obo/UBERON_0010392	B cell domain		
http://purl.obolibrary.org/obo/UBERON_0010417	lymph node T cell domain	http://purl.obolibrary.org/obo/UBERON_0010393	T cell domain		
http://purl.obolibrary.org/obo/UBERON_0010392	B cell domain	http://purl.obolibrary.org/obo/UBERON_0010394	lymphocyte domain		
http://purl.obolibrary.org/obo/UBERON_0010393	T cell domain	http://purl.obolibrary.org/obo/UBERON_0010394	lymphocyte domain		
http://purl.obolibrary.org/obo/UBERON_0010414	omental fat pad	http://purl.obolibrary.org/obo/UBERON_0010411	retroperitoneal fat pad		
http://purl.obolibrary.org/obo/UBERON_0012240	urethral meatus	http://purl.obolibrary.org/obo/UBERON_0010418	urethral opening		
http://purl.obolibrary.org/obo/UBERON_0012242	internal urethral orifice	http://purl.obolibrary.org/obo/UBERON_0010418	urethral opening		
http://purl.obolibrary.org/obo/UBERON_0004771	posterior nasal aperture	http://purl.obolibrary.org/obo/UBERON_0010425	internal naris		
http://purl.obolibrary.org/obo/UBERON_0010426	oropharyngeal choana	http://purl.obolibrary.org/obo/UBERON_0010425	internal naris		
http://purl.obolibrary.org/obo/UBERON_0001676	occipital bone	http://purl.obolibrary.org/obo/UBERON_0011164	neurocranium bone		
http://purl.obolibrary.org/obo/UBERON_0010506	meningeal dura mater	http://purl.obolibrary.org/obo/UBERON_0010507	layer of dura mater		
http://purl.obolibrary.org/obo/UBERON_0010528	pneumatic cavity of bone	http://purl.obolibrary.org/obo/UBERON_0010527	cavity of bone organ		
http://purl.obolibrary.org/obo/UBERON_0010537	mesonephric nephron progenitor	http://purl.obolibrary.org/obo/UBERON_0010536	nephron progenitor		
http://purl.obolibrary.org/obo/UBERON_0002529	limb segment	http://purl.obolibrary.org/obo/UBERON_0010538	paired limb/fin segment		
http://purl.obolibrary.org/obo/UBERON_0010688	skeleton of manual acropodium	http://purl.obolibrary.org/obo/UBERON_0010543	acropodial skeleton		
http://purl.obolibrary.org/obo/UBERON_0010696	skeleton of pedal acropodium	http://purl.obolibrary.org/obo/UBERON_0010543	acropodial skeleton		
http://purl.obolibrary.org/obo/UBERON_0010544	metacarpus skeleton	http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010545	metatarsus skeleton	http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010580	pedal digit 1 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015031	pedal digit 1 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010581	pedal digit 2 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015032	pedal digit 2 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010582	pedal digit 3 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015033	pedal digit 3 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010583	pedal digit 4 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015034	pedal digit 4 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010584	pedal digit 5 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015035	pedal digit 5 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010575	manual digit 1 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015025	manual digit 1 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010576	manual digit 2 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015026	manual digit 2 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010577	manual digit 3 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015027	manual digit 3 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010578	manual digit 4 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015028	manual digit 4 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010579	manual digit 5 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015029	manual digit 5 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010680	pedal digit 1 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015031	pedal digit 1 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010681	pedal digit 2 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015032	pedal digit 2 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010682	pedal digit 3 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015033	pedal digit 3 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010683	pedal digit 4 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015034	pedal digit 4 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010684	pedal digit 5 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015035	pedal digit 5 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010675	manual digit 1 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015025	manual digit 1 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010676	manual digit 2 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015026	manual digit 2 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010677	manual digit 3 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015027	manual digit 3 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010678	manual digit 4 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015028	manual digit 4 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010679	manual digit 5 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015029	manual digit 5 phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010547	pedal digit 1 metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015037	pedal digit 1 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010548	pedal digit 2 metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015038	pedal digit 2 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010549	pedal digit 3 metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015039	pedal digit 3 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010550	pedal digit 4 metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015040	pedal digit 4 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010551	pedal digit 5 metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015041	pedal digit 5 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010557	pedal digit 1 metatarsal cartilage element	http://purl.obolibrary.org/obo/UBERON_0015037	pedal digit 1 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010558	pedal digit 2 metatarsal cartilage element	http://purl.obolibrary.org/obo/UBERON_0015038	pedal digit 2 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010559	pedal digit 3 metatarsal cartilage element	http://purl.obolibrary.org/obo/UBERON_0015039	pedal digit 3 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010560	pedal digit 4 metatarsal cartilage element	http://purl.obolibrary.org/obo/UBERON_0015040	pedal digit 4 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010561	pedal digit 5 metatarsal cartilage element	http://purl.obolibrary.org/obo/UBERON_0015041	pedal digit 5 metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010565	manual digit 1 metacarpus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015043	manual digit 1 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010566	manual digit 2 metacarpus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015044	manual digit 2 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010567	manual digit 3 metacarpus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015045	manual digit 3 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010568	manual digit 4 metacarpus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015046	manual digit 4 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010569	manual digit 5 metacarpus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015047	manual digit 5 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010570	manual digit 1 metacarpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015043	manual digit 1 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010571	manual digit 2 metacarpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015044	manual digit 2 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010572	manual digit 3 metacarpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015045	manual digit 3 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010573	manual digit 4 metacarpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015046	manual digit 4 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010574	manual digit 5 metacarpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015047	manual digit 5 metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010585	pedal digit phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015030	pedal digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010586	manual digit phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015024	manual digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010685	pedal digit phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0035129	pes cartilage element		
http://purl.obolibrary.org/obo/UBERON_0010686	manual digit phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0035128	manus cartilage element		
http://purl.obolibrary.org/obo/UBERON_0010708	pectoral complex	http://purl.obolibrary.org/obo/UBERON_0010707	appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0010709	pelvic complex	http://purl.obolibrary.org/obo/UBERON_0010707	appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0004381	skeleton of limb	http://purl.obolibrary.org/obo/UBERON_0011582	paired limb/fin skeleton		
http://purl.obolibrary.org/obo/UBERON_0006717	autopodial skeleton	http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision		
http://purl.obolibrary.org/obo/UBERON_0009878	mesopodial skeleton	http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision		
http://purl.obolibrary.org/obo/UBERON_0010543	acropodial skeleton	http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision		
http://purl.obolibrary.org/obo/UBERON_0010546	metapodial skeleton	http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision		
http://purl.obolibrary.org/obo/UBERON_0011583	stylopodial skeleton	http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision		
http://purl.obolibrary.org/obo/UBERON_0011584	zeugopodial skeleton	http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision		
http://purl.obolibrary.org/obo/UBERON_0012150	skeleton of digitopodium	http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision		
http://purl.obolibrary.org/obo/UBERON_5102544	individual digit of digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision		
http://purl.obolibrary.org/obo/UBERON_0007832	pelvic girdle skeleton	http://purl.obolibrary.org/obo/UBERON_0010719	girdle skeleton		
http://purl.obolibrary.org/obo/UBERON_0007831	pectoral girdle skeleton	http://purl.obolibrary.org/obo/UBERON_0010719	girdle skeleton		
http://purl.obolibrary.org/obo/UBERON_0004375	bone of free limb or fin	http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0007828	girdle bone/zone	http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0010741	bone of pectoral complex	http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0010742	bone of pelvic complex	http://purl.obolibrary.org/obo/UBERON_0010740	bone of appendage girdle complex		
http://purl.obolibrary.org/obo/UBERON_0003461	shoulder bone	http://purl.obolibrary.org/obo/UBERON_0010741	bone of pectoral complex		
http://purl.obolibrary.org/obo/UBERON_0006058	multi-limb segment region	http://purl.obolibrary.org/obo/UBERON_0010758	subdivision of organism along appendicular axis		
http://purl.obolibrary.org/obo/UBERON_0010538	paired limb/fin segment	http://purl.obolibrary.org/obo/UBERON_0010758	subdivision of organism along appendicular axis		
http://purl.obolibrary.org/obo/UBERON_0010883	forelimb cartilage element	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010885	hindlimb cartilage element	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015064	autopod cartilage	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010700	phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015023	phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010884	forelimb bone pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010886	hindlimb pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0018101	distal mesopodial pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0018099	distal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006286	radius cartilage element	http://purl.obolibrary.org/obo/UBERON_0015001	radius endochondral element		
http://purl.obolibrary.org/obo/UBERON_0035128	manus cartilage element	http://purl.obolibrary.org/obo/UBERON_0015064	autopod cartilage		
http://purl.obolibrary.org/obo/UBERON_0010698	manual digit metacarpus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015080	proximal carpal bone pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015078	proximal carpal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015095	distal carpal bone 4 pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015093	distal carpal bone 4 endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010849	tibia cartilage element	http://purl.obolibrary.org/obo/UBERON_0015004	tibia endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010851	fibula cartilage element	http://purl.obolibrary.org/obo/UBERON_0015013	fibula endochondral element		
http://purl.obolibrary.org/obo/UBERON_0035129	pes cartilage element	http://purl.obolibrary.org/obo/UBERON_0015064	autopod cartilage		
http://purl.obolibrary.org/obo/UBERON_0015083	proximal tarsal bone pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015081	proximal tarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015101	distal tarsal bone pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0018101	distal mesopodial pre-cartilage condensation		
http://purl.obolibrary.org/obo/UBERON_0003658	hip muscle	http://purl.obolibrary.org/obo/UBERON_0010890	pelvic complex muscle		
http://purl.obolibrary.org/obo/UBERON_0014795	pelvic appendage muscle	http://purl.obolibrary.org/obo/UBERON_0010890	pelvic complex muscle		
http://purl.obolibrary.org/obo/UBERON_0008196	muscle of pectoral girdle	http://purl.obolibrary.org/obo/UBERON_0010891	pectoral complex muscle		
http://purl.obolibrary.org/obo/UBERON_0014794	pectoral appendage muscle	http://purl.obolibrary.org/obo/UBERON_0010891	pectoral complex muscle		
http://purl.obolibrary.org/obo/UBERON_3010692	m. cucullaris	http://purl.obolibrary.org/obo/UBERON_0010891	pectoral complex muscle		
http://purl.obolibrary.org/obo/UBERON_0011141	appendicular ossicle	http://purl.obolibrary.org/obo/UBERON_0010911	ossicle		
http://purl.obolibrary.org/obo/UBERON_0011142	axial ossicle	http://purl.obolibrary.org/obo/UBERON_0010911	ossicle		
http://purl.obolibrary.org/obo/UBERON_0013631	sesamoid element	http://purl.obolibrary.org/obo/UBERON_0010911	ossicle		
http://purl.obolibrary.org/obo/UBERON_0001697	orbit of skull	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002090	postcranial axial skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0002091	appendicular skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0003252	thoracic rib cage	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0003277	skeleton of upper jaw	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0003278	skeleton of lower jaw	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0004339	vault of skull	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0005884	hyoid arch skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0005944	axial skeleton plus cranial skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0010362	endoskeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0010364	dermal skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0010712	limb skeleton subdivision	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0010719	girdle skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0011085	palatoquadrate arch	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0012353	fin skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0012475	skeleton of pectoral complex	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0012476	skeleton of pelvic complex	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0014477	thoracic skeleton	http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton		
http://purl.obolibrary.org/obo/UBERON_0011095	vertebra pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010913	vertebral element		
http://purl.obolibrary.org/obo/UBERON_0002377	muscle of neck	http://purl.obolibrary.org/obo/UBERON_0010959	craniocervical muscle		
http://purl.obolibrary.org/obo/UBERON_0003682	palatal muscle	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_2001544	sublingual cartilage	http://purl.obolibrary.org/obo/UBERON_0011004	pharyngeal arch cartilage		
http://purl.obolibrary.org/obo/UBERON_0010745	sacral vertebra cartilage element	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0013503	caudal vertebra cartilage element	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0013507	thoracic vertebra cartilage element	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0013509	lumbar vertebra cartilage element	http://purl.obolibrary.org/obo/UBERON_2001457	postcranial axial cartilage		
http://purl.obolibrary.org/obo/UBERON_0010744	sacral vertebra pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015010	sacral vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0013504	caudal vertebra pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0018142	caudal vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0013506	cervical vertebra pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015007	cervical vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0013508	thoracic vertebra pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015008	thoracic vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0013510	lumbar vertebra pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015009	lumbar vertebra endochondral element		
http://purl.obolibrary.org/obo/UBERON_0001365	sacro-iliac joint	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0001486	hip joint	http://purl.obolibrary.org/obo/UBERON_0011107	synovial joint of pelvic girdle		
http://purl.obolibrary.org/obo/UBERON_0001469	sternoclavicular joint	http://purl.obolibrary.org/obo/UBERON_0011108	synovial joint of pectoral girdle		
http://purl.obolibrary.org/obo/UBERON_0001470	glenohumeral joint	http://purl.obolibrary.org/obo/UBERON_0016884	shoulder joint		
http://purl.obolibrary.org/obo/UBERON_0003692	acromioclavicular joint	http://purl.obolibrary.org/obo/UBERON_0016884	shoulder joint		
http://purl.obolibrary.org/obo/UBERON_0011265	carpometacarpal joint of digit 1	http://purl.obolibrary.org/obo/UBERON_0011119	carpometacarpal joint		
http://purl.obolibrary.org/obo/UBERON_0011869	pisiform joint	http://purl.obolibrary.org/obo/UBERON_0011132	intercarpal joint		
http://purl.obolibrary.org/obo/UBERON_0002209	fibrous joint	http://purl.obolibrary.org/obo/UBERON_0011134	nonsynovial joint		
http://purl.obolibrary.org/obo/UBERON_0002213	cartilaginous joint	http://purl.obolibrary.org/obo/UBERON_0011134	nonsynovial joint		
http://purl.obolibrary.org/obo/UBERON_0001066	intervertebral disk	http://purl.obolibrary.org/obo/UBERON_0011135	intervertebral cartilage		
http://purl.obolibrary.org/obo/UBERON_0017261	intertarsal sesamoid	http://purl.obolibrary.org/obo/UBERON_0013631	sesamoid element		
http://purl.obolibrary.org/obo/UBERON_8410077	airway submucosal gland	http://purl.obolibrary.org/obo/UBERON_0036225	respiratory system gland		
http://purl.obolibrary.org/obo/UBERON_0001703	neurocranium	http://purl.obolibrary.org/obo/UBERON_0011158	primary subdivision of skull		
http://purl.obolibrary.org/obo/UBERON_0002241	chondrocranium	http://purl.obolibrary.org/obo/UBERON_0011159	primary subdivision of cranial skeletal system		
http://purl.obolibrary.org/obo/UBERON_0003113	dermatocranium	http://purl.obolibrary.org/obo/UBERON_0011159	primary subdivision of cranial skeletal system		
http://purl.obolibrary.org/obo/UBERON_0008895	splanchnocranium	http://purl.obolibrary.org/obo/UBERON_0011159	primary subdivision of cranial skeletal system		
http://purl.obolibrary.org/obo/UBERON_0013739	base of crypt of Lieberkuhn	http://purl.obolibrary.org/obo/UBERON_0011184	epithelium of crypt of Lieberkuhn		
http://purl.obolibrary.org/obo/UBERON_0013740	wall of crypt of Lieberkuhn	http://purl.obolibrary.org/obo/UBERON_0011184	epithelium of crypt of Lieberkuhn		
http://purl.obolibrary.org/obo/UBERON_0001202	pyloric sphincter	http://purl.obolibrary.org/obo/UBERON_0011185	gastrointestinal sphincter		
http://purl.obolibrary.org/obo/UBERON_0004550	gastroesophageal sphincter	http://purl.obolibrary.org/obo/UBERON_0011185	gastrointestinal sphincter		
http://purl.obolibrary.org/obo/UBERON_0004915	sphincter of hepatopancreatic ampulla	http://purl.obolibrary.org/obo/UBERON_0011185	gastrointestinal sphincter		
http://purl.obolibrary.org/obo/UBERON_0007177	lamina propria of mucosa of colon	http://purl.obolibrary.org/obo/UBERON_0011189	lamina propria of large intestine		
http://purl.obolibrary.org/obo/UBERON_0011192	superior ophthalmic vein	http://purl.obolibrary.org/obo/UBERON_0011191	ophthalmic vein		
http://purl.obolibrary.org/obo/UBERON_0012489	muscle layer of colon	http://purl.obolibrary.org/obo/UBERON_0011198	muscle layer of large intestine		
http://purl.obolibrary.org/obo/UBERON_0012490	muscle layer of anal canal	http://purl.obolibrary.org/obo/UBERON_0011198	muscle layer of large intestine		
http://purl.obolibrary.org/obo/UBERON_0018111	muscle layer of rectum	http://purl.obolibrary.org/obo/UBERON_0011198	muscle layer of large intestine		
http://purl.obolibrary.org/obo/UBERON_0012377	muscle layer of jejunum	http://purl.obolibrary.org/obo/UBERON_0011201	muscle layer of small intestine		
http://purl.obolibrary.org/obo/UBERON_0012488	muscle layer of duodenum	http://purl.obolibrary.org/obo/UBERON_0011201	muscle layer of small intestine		
http://purl.obolibrary.org/obo/UBERON_0014390	muscle layer of ileum	http://purl.obolibrary.org/obo/UBERON_0011201	muscle layer of small intestine		
http://purl.obolibrary.org/obo/UBERON_0000125	neural nucleus	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0000956	cerebral cortex	http://purl.obolibrary.org/obo/UBERON_0016548	central nervous system gray matter layer		
http://purl.obolibrary.org/obo/UBERON_0002020	gray matter	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0002304	layer of dentate gyrus	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0002305	layer of hippocampus	http://purl.obolibrary.org/obo/UBERON_0016548	central nervous system gray matter layer		
http://purl.obolibrary.org/obo/UBERON_0002316	white matter	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0002742	lamina of septum pellucidum	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0004001	olfactory bulb layer	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0004130	cerebellar layer	http://purl.obolibrary.org/obo/UBERON_0016548	central nervous system gray matter layer		
http://purl.obolibrary.org/obo/UBERON_0014530	white matter lamina of neuraxis	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0016550	spinal cord column	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0016570	lamina of gray matter of spinal cord	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0034714	epiphyseal tract	http://purl.obolibrary.org/obo/UBERON_0034713	cranial neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_8440004	laminar subdivision of the cortex	http://purl.obolibrary.org/obo/UBERON_0011215	central nervous system cell part cluster		
http://purl.obolibrary.org/obo/UBERON_0000010	peripheral nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0002410	autonomic nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0006558	lymphatic part of lymphoid system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000012	somatic nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000013	sympathetic nervous system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000075	subdivision of skeletal system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000349	limbic system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0000383	musculature of body	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0001015	musculature	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0001434	skeletal system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0001556	lower urinary tract	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0002294	biliary system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0002423	hepatobiliary system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0006524	alveolar system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0006525	left lung alveolar system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0006526	right lung alveolar system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0010191	aortic system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0010912	subdivision of skeleton	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0011143	upper urinary tract	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0018226	pulmonary part of lymphatic system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0018229	renin-angiotensin system	http://purl.obolibrary.org/obo/UBERON_0011216	organ system subdivision		
http://purl.obolibrary.org/obo/UBERON_0001606	muscle of iris	http://purl.obolibrary.org/obo/UBERON_0011222	intra-ocular muscle		
http://purl.obolibrary.org/obo/UBERON_0003656	mesopodium bone	http://purl.obolibrary.org/obo/UBERON_0013630	short bone		
http://purl.obolibrary.org/obo/UBERON_0012357	digitopodium bone	http://purl.obolibrary.org/obo/UBERON_0011250	autopod bone		
http://purl.obolibrary.org/obo/UBERON_0002437	cerebral hemisphere white matter	http://purl.obolibrary.org/obo/UBERON_0011299	white matter of telencephalon		
http://purl.obolibrary.org/obo/UBERON_0005401	cerebral hemisphere gray matter	http://purl.obolibrary.org/obo/UBERON_0011300	gray matter of telencephalon		
http://purl.obolibrary.org/obo/UBERON_0007272	pectoral appendage skeleton	http://purl.obolibrary.org/obo/UBERON_0011582	paired limb/fin skeleton		
http://purl.obolibrary.org/obo/UBERON_0007273	pelvic appendage skeleton	http://purl.obolibrary.org/obo/UBERON_0011582	paired limb/fin skeleton		
http://purl.obolibrary.org/obo/UBERON_0010703	forelimb zeugopod skeleton	http://purl.obolibrary.org/obo/UBERON_0011584	zeugopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_0010720	hindlimb zeugopod skeleton	http://purl.obolibrary.org/obo/UBERON_0011584	zeugopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_0001996	elastic cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0011589	non-mineralized cartilage tissue		
http://purl.obolibrary.org/obo/UBERON_0001908	optic tract	http://purl.obolibrary.org/obo/UBERON_0011591	tract of diencephalon		
http://purl.obolibrary.org/obo/UBERON_0025261	thalamic fiber tract	http://purl.obolibrary.org/obo/UBERON_0011591	tract of diencephalon		
http://purl.obolibrary.org/obo/UBERON_0000033	head	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0002100	trunk	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0002415	tail	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0005434	cervical region	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0005473	sacral region	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0006071	caudal region	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0010162	post-anal tail tip	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_6000002	arthropod tagma	http://purl.obolibrary.org/obo/UBERON_0011676	subdivision of organism along main body axis		
http://purl.obolibrary.org/obo/UBERON_0001450	calcaneus	http://purl.obolibrary.org/obo/UBERON_0015014	calcaneum endochondral element		
http://purl.obolibrary.org/obo/UBERON_0011696	left extraembryonic umbilical artery	http://purl.obolibrary.org/obo/UBERON_0011693	extraembryonic portion of umbilical artery		
http://purl.obolibrary.org/obo/UBERON_0011697	right extraembryonic umbilical artery	http://purl.obolibrary.org/obo/UBERON_0011693	extraembryonic portion of umbilical artery		
http://purl.obolibrary.org/obo/UBERON_0005484	tricuspid valve leaflet	http://purl.obolibrary.org/obo/UBERON_0011741	cardiac valve leaflet		
http://purl.obolibrary.org/obo/UBERON_0007151	mitral valve leaflet	http://purl.obolibrary.org/obo/UBERON_0011741	cardiac valve leaflet		
http://purl.obolibrary.org/obo/UBERON_0011742	aortic valve leaflet	http://purl.obolibrary.org/obo/UBERON_0011741	cardiac valve leaflet		
http://purl.obolibrary.org/obo/UBERON_0011745	pulmonary valve leaflets	http://purl.obolibrary.org/obo/UBERON_0011741	cardiac valve leaflet		
http://purl.obolibrary.org/obo/UBERON_0011755	female labial swelling	http://purl.obolibrary.org/obo/UBERON_0011754	genital swelling		
http://purl.obolibrary.org/obo/UBERON_0011756	male genital swelling	http://purl.obolibrary.org/obo/UBERON_0011754	genital swelling		
http://purl.obolibrary.org/obo/UBERON_0006233	female genital tubercle	http://purl.obolibrary.org/obo/UBERON_0011757	differentiated genital tubercle		
http://purl.obolibrary.org/obo/UBERON_0006261	male genital tubercle	http://purl.obolibrary.org/obo/UBERON_0011757	differentiated genital tubercle		
http://purl.obolibrary.org/obo/UBERON_0022278	nucleus of pudendal nerve	http://purl.obolibrary.org/obo/UBERON_0011777	nucleus of spinal cord		
http://purl.obolibrary.org/obo/UBERON_0001785	cranial nerve	http://purl.obolibrary.org/obo/UBERON_0034713	cranial neuron projection bundle		
http://purl.obolibrary.org/obo/UBERON_0035648	nerve innervating pinna	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0000375	mandibular nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0000377	maxillary nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0000929	pharyngeal branch of vagus nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0003721	lingual nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0003723	vestibular nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0004116	nerve of tympanic cavity	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0004727	cochlear nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0008810	nasopalatine nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0011096	lacrimal nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0018408	infra-orbital nerve	http://purl.obolibrary.org/obo/UBERON_0022298	lower eyelid nerve		
http://purl.obolibrary.org/obo/UBERON_0034728	autonomic nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0036264	zygomaticotemporal nerve	http://purl.obolibrary.org/obo/UBERON_0011779	nerve of head region		
http://purl.obolibrary.org/obo/UBERON_0005311	mammary placode	http://purl.obolibrary.org/obo/UBERON_0011814	non-neurogenic ectodermal placode		
http://purl.obolibrary.org/obo/UBERON_0005086	hair follicle placode	http://purl.obolibrary.org/obo/UBERON_0011817	skin appendage placode		
http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue	http://purl.obolibrary.org/obo/UBERON_0011823	dense connective tissue		
http://purl.obolibrary.org/obo/UBERON_0011825	loose connective tissue	http://purl.obolibrary.org/obo/UBERON_0011821	irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0000121	perineurium	http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0000124	epineurium	http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0001013	adipose tissue	http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0011824	fibrous connective tissue	http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0011899	epimysium	http://purl.obolibrary.org/obo/UBERON_0011822	dense irregular connective tissue		
http://purl.obolibrary.org/obo/UBERON_0018135	fibrocollagenous connective tissue	http://purl.obolibrary.org/obo/UBERON_0011824	fibrous connective tissue		
http://purl.obolibrary.org/obo/UBERON_0001754	dental pulp	http://purl.obolibrary.org/obo/UBERON_0011825	loose connective tissue		
http://purl.obolibrary.org/obo/UBERON_0006815	areolar connective tissue	http://purl.obolibrary.org/obo/UBERON_0011825	loose connective tissue		
http://purl.obolibrary.org/obo/UBERON_0010150	duct of major vestibular gland	http://purl.obolibrary.org/obo/UBERON_0011831	duct of vestibular gland		
http://purl.obolibrary.org/obo/UBERON_0004000	tarsal gland acinus	http://purl.obolibrary.org/obo/UBERON_0011846	acinus of sebaceous gland		
http://purl.obolibrary.org/obo/UBERON_0011847	acinus of parotid gland	http://purl.obolibrary.org/obo/UBERON_0013232	serous acinus		
http://purl.obolibrary.org/obo/UBERON_0011846	acinus of sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0011858	acinus of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0011850	acinus of salivary gland	http://purl.obolibrary.org/obo/UBERON_0011858	acinus of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0011856	acinus of lactiferous gland	http://purl.obolibrary.org/obo/UBERON_0011858	acinus of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0011857	acinus of lacrimal gland	http://purl.obolibrary.org/obo/UBERON_0011858	acinus of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0013232	serous acinus	http://purl.obolibrary.org/obo/UBERON_0011858	acinus of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0014717	mucous acinus	http://purl.obolibrary.org/obo/UBERON_0011858	acinus of exocrine gland		
http://purl.obolibrary.org/obo/UBERON_0011861	aorta collagen fibril	http://purl.obolibrary.org/obo/UBERON_0011860	collection of collagen fibrils		
http://purl.obolibrary.org/obo/UBERON_0011862	pulmonary collagen fibril	http://purl.obolibrary.org/obo/UBERON_0011860	collection of collagen fibrils		
http://purl.obolibrary.org/obo/UBERON_0011863	bone collagen fibril	http://purl.obolibrary.org/obo/UBERON_0011860	collection of collagen fibrils		
http://purl.obolibrary.org/obo/UBERON_0011864	tendon collagen fibril	http://purl.obolibrary.org/obo/UBERON_0011860	collection of collagen fibrils		
http://purl.obolibrary.org/obo/UBERON_0011865	corneal stroma collagen fibril	http://purl.obolibrary.org/obo/UBERON_0011860	collection of collagen fibrils		
http://purl.obolibrary.org/obo/UBERON_0011927	preganglionic sympathetic fiber	http://purl.obolibrary.org/obo/UBERON_0011925	preganglionic autonomic fiber		
http://purl.obolibrary.org/obo/UBERON_0011930	preganglionic parasympathetic fiber	http://purl.obolibrary.org/obo/UBERON_0011925	preganglionic autonomic fiber		
http://purl.obolibrary.org/obo/UBERON_0004389	epiphysis of metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0011973	epiphysis of phalanx of pes		
http://purl.obolibrary.org/obo/UBERON_0014876	distal epiphysis of distal phalanx of pedal digit	http://purl.obolibrary.org/obo/UBERON_0014887	distal epiphysis of distal phalanx of digit		
http://purl.obolibrary.org/obo/UBERON_0001961	mucosa-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0012069	epithelium-associated lymphoid tissue		
http://purl.obolibrary.org/obo/UBERON_0004767	vomerine tooth	http://purl.obolibrary.org/obo/UBERON_0012070	palatal tooth		
http://purl.obolibrary.org/obo/UBERON_0008909	perichordal bone	http://purl.obolibrary.org/obo/UBERON_0012075	replacement bone		
http://purl.obolibrary.org/obo/UBERON_0012083	lumen of primary bronchus	http://purl.obolibrary.org/obo/UBERON_0012082	bronchial lumen		
http://purl.obolibrary.org/obo/UBERON_0012084	lumen of secondary bronchus	http://purl.obolibrary.org/obo/UBERON_0012082	bronchial lumen		
http://purl.obolibrary.org/obo/UBERON_0012085	lumen of tertiary bronchus	http://purl.obolibrary.org/obo/UBERON_0012082	bronchial lumen		
http://purl.obolibrary.org/obo/UBERON_0012140	digitopodium region	http://purl.obolibrary.org/obo/UBERON_0012139	segment of autopod		
http://purl.obolibrary.org/obo/UBERON_0012354	acropodium region	http://purl.obolibrary.org/obo/UBERON_0012139	segment of autopod		
http://purl.obolibrary.org/obo/UBERON_0012151	skeleton of manual digitopodium	http://purl.obolibrary.org/obo/UBERON_0012150	skeleton of digitopodium		
http://purl.obolibrary.org/obo/UBERON_0012152	skeleton of pedal digitopodium	http://purl.obolibrary.org/obo/UBERON_0012150	skeleton of digitopodium		
http://purl.obolibrary.org/obo/UBERON_0001084	skin of head	http://purl.obolibrary.org/obo/UBERON_0012180	head or neck skin		
http://purl.obolibrary.org/obo/UBERON_0006565	female urethral meatus	http://purl.obolibrary.org/obo/UBERON_0012240	urethral meatus		
http://purl.obolibrary.org/obo/UBERON_0012252	endocervical epithelium	http://purl.obolibrary.org/obo/UBERON_0012250	cervix glandular epithelium		
http://purl.obolibrary.org/obo/UBERON_0001184	renal artery	http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery		
http://purl.obolibrary.org/obo/UBERON_0005616	mesenteric artery	http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery		
http://purl.obolibrary.org/obo/UBERON_0010192	genital artery	http://purl.obolibrary.org/obo/UBERON_0012254	abdominal aorta artery		
http://purl.obolibrary.org/obo/UBERON_0004291	heart rudiment	http://purl.obolibrary.org/obo/UBERON_0012275	meso-epithelium		
http://purl.obolibrary.org/obo/UBERON_0005013	mucosa of male urethra	http://purl.obolibrary.org/obo/UBERON_0012299	mucosa of urethra		
http://purl.obolibrary.org/obo/UBERON_0005014	mucosa of female urethra	http://purl.obolibrary.org/obo/UBERON_0012299	mucosa of urethra		
http://purl.obolibrary.org/obo/UBERON_0005867	mandibular prominence	http://purl.obolibrary.org/obo/UBERON_0012314	embryonic facial prominence		
http://purl.obolibrary.org/obo/UBERON_0009292	embryonic nasal process	http://purl.obolibrary.org/obo/UBERON_0012314	embryonic facial prominence		
http://purl.obolibrary.org/obo/UBERON_0001071	superficial cervical artery	http://purl.obolibrary.org/obo/UBERON_0012320	cervical artery		
http://purl.obolibrary.org/obo/UBERON_0012321	deep cervical artery	http://purl.obolibrary.org/obo/UBERON_0012320	cervical artery		
http://purl.obolibrary.org/obo/UBERON_0012324	transverse cervical artery	http://purl.obolibrary.org/obo/UBERON_0012320	cervical artery		
http://purl.obolibrary.org/obo/UBERON_0019307	epithelium of external nose	http://purl.obolibrary.org/obo/UBERON_0019306	nose epithelium		
http://purl.obolibrary.org/obo/UBERON_4000170	median fin skeleton	http://purl.obolibrary.org/obo/UBERON_0012353	fin skeleton		
http://purl.obolibrary.org/obo/UBERON_0004249	manual digit bone	http://purl.obolibrary.org/obo/UBERON_0012358	manual digitopodium bone		
http://purl.obolibrary.org/obo/UBERON_0004248	pedal digit bone	http://purl.obolibrary.org/obo/UBERON_0012359	pedal digitopodium bone		
http://purl.obolibrary.org/obo/UBERON_0011597	bone of upper jaw	http://purl.obolibrary.org/obo/UBERON_0012360	bone of jaw		
http://purl.obolibrary.org/obo/UBERON_0011198	muscle layer of large intestine	http://purl.obolibrary.org/obo/UBERON_0012367	muscle layer of intestine		
http://purl.obolibrary.org/obo/UBERON_0011201	muscle layer of small intestine	http://purl.obolibrary.org/obo/UBERON_0012367	muscle layer of intestine		
http://purl.obolibrary.org/obo/UBERON_8400023	liver subserosa	http://purl.obolibrary.org/obo/UBERON_0012375	subserosa		
http://purl.obolibrary.org/obo/UBERON_0012425	striated border microvillus layer	http://purl.obolibrary.org/obo/UBERON_0012423	layer of microvilli		
http://purl.obolibrary.org/obo/UBERON_0012485	cloacal villus	http://purl.obolibrary.org/obo/UBERON_0012423	layer of microvilli		
http://purl.obolibrary.org/obo/UBERON_2001388	epithelial mesenchymal boundary of regenerating fin/limb	http://purl.obolibrary.org/obo/UBERON_0012437	epithelial-mesenchymal boundary		
http://purl.obolibrary.org/obo/UBERON_0009669	embryonic cloacal lumen	http://purl.obolibrary.org/obo/UBERON_0012463	cloacal lumen		
http://purl.obolibrary.org/obo/UBERON_0000301	amniotic cavity	http://purl.obolibrary.org/obo/UBERON_0012467	enclosed anatomical space		
http://purl.obolibrary.org/obo/UBERON_0007473	lumen of epithelial sac	http://purl.obolibrary.org/obo/UBERON_0012467	enclosed anatomical space		
http://purl.obolibrary.org/obo/UBERON_0035805	muscle layer of sigmoid colon	http://purl.obolibrary.org/obo/UBERON_0012489	muscle layer of colon		
http://purl.obolibrary.org/obo/UBERON_0002772	olfactory sulcus	http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain		
http://purl.obolibrary.org/obo/UBERON_0002916	central sulcus	http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain		
http://purl.obolibrary.org/obo/UBERON_0014639	frontal sulcus	http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain		
http://purl.obolibrary.org/obo/UBERON_0014687	temporal sulcus	http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain		
http://purl.obolibrary.org/obo/UBERON_0019303	occipital sulcus	http://purl.obolibrary.org/obo/UBERON_0013118	sulcus of brain		
http://purl.obolibrary.org/obo/UBERON_0001143	hepatic vein	http://purl.obolibrary.org/obo/UBERON_0015796	liver blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005269	renal cortex vein	http://purl.obolibrary.org/obo/UBERON_0014401	renal venous blood vessel		
http://purl.obolibrary.org/obo/UBERON_0006841	central vein of liver	http://purl.obolibrary.org/obo/UBERON_0015796	liver blood vessel		
http://purl.obolibrary.org/obo/UBERON_0010400	spleen trabecular vein	http://purl.obolibrary.org/obo/UBERON_0013126	vein of abdomen		
http://purl.obolibrary.org/obo/UBERON_0003477	vein of upper lip	http://purl.obolibrary.org/obo/UBERON_0013136	vein of lip		
http://purl.obolibrary.org/obo/UBERON_0003478	vein of lower lip	http://purl.obolibrary.org/obo/UBERON_0013136	vein of lip		
http://purl.obolibrary.org/obo/UBERON_0001247	falciform ligament	http://purl.obolibrary.org/obo/UBERON_0013139	ligament of liver		
http://purl.obolibrary.org/obo/UBERON_0009141	craniocervical region vein	http://purl.obolibrary.org/obo/UBERON_0013140	systemic vein		
http://purl.obolibrary.org/obo/UBERON_0006284	early prosencephalic vesicle	http://purl.obolibrary.org/obo/UBERON_0013150	future brain vesicle		
http://purl.obolibrary.org/obo/UBERON_0009676	early telencephalic vesicle	http://purl.obolibrary.org/obo/UBERON_0013150	future brain vesicle		
http://purl.obolibrary.org/obo/UBERON_0013147	early mesencephalic vesicle	http://purl.obolibrary.org/obo/UBERON_0013150	future brain vesicle		
http://purl.obolibrary.org/obo/UBERON_0013148	early midbrain vesicle	http://purl.obolibrary.org/obo/UBERON_0013150	future brain vesicle		
http://purl.obolibrary.org/obo/UBERON_0013149	hindbrain vesicle	http://purl.obolibrary.org/obo/UBERON_0013150	future brain vesicle		
http://purl.obolibrary.org/obo/UBERON_0001818	tarsal gland	http://purl.obolibrary.org/obo/UBERON_0015251	modified sebaceous gland		
http://purl.obolibrary.org/obo/UBERON_0001263	pancreatic acinus	http://purl.obolibrary.org/obo/UBERON_0013232	serous acinus		
http://purl.obolibrary.org/obo/UBERON_0013239	future glans penis	http://purl.obolibrary.org/obo/UBERON_0013238	future glans		
http://purl.obolibrary.org/obo/UBERON_0013240	future glans clitoris	http://purl.obolibrary.org/obo/UBERON_0013238	future glans		
http://purl.obolibrary.org/obo/UBERON_0000995	uterus	http://purl.obolibrary.org/obo/UBERON_0013515	subdivision of oviduct		
http://purl.obolibrary.org/obo/UBERON_0003984	uterine tube infundibulum	http://purl.obolibrary.org/obo/UBERON_0013515	subdivision of oviduct		
http://purl.obolibrary.org/obo/UBERON_0016632	isthmus of fallopian tube	http://purl.obolibrary.org/obo/UBERON_0013515	subdivision of oviduct		
http://purl.obolibrary.org/obo/UBERON_0000388	epiglottis	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0001729	oropharynx	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0000072	proximo-distal subdivision of respiratory tract	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0000162	cloaca	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0000930	stomodeum	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0001051	hypopharynx	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0001335	prostatic urethra	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0002345	descending thoracic aorta	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0004203	cortical collecting duct	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0004921	subdivision of digestive tract	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0005185	renal medulla collecting duct	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0005800	section of aorta	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0035804	future mouth	http://purl.obolibrary.org/obo/UBERON_0013522	subdivision of tube		
http://purl.obolibrary.org/obo/UBERON_0014762	fused metapodial bones 2-4	http://purl.obolibrary.org/obo/UBERON_0013586	fused metapodial bones 3 and 4		
http://purl.obolibrary.org/obo/UBERON_0014763	fused metatarsal bones 2-4	http://purl.obolibrary.org/obo/UBERON_0014762	fused metapodial bones 2-4		
http://purl.obolibrary.org/obo/UBERON_0001479	sesamoid bone	http://purl.obolibrary.org/obo/UBERON_0013631	sesamoid element		
http://purl.obolibrary.org/obo/UBERON_0008345	ileal epithelium	http://purl.obolibrary.org/obo/UBERON_0013636	epithelium of intestinal villus		
http://purl.obolibrary.org/obo/UBERON_0008346	duodenal epithelium	http://purl.obolibrary.org/obo/UBERON_0013636	epithelium of intestinal villus		
http://purl.obolibrary.org/obo/UBERON_0003687	foramen magnum	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0002279	vestibular aqueduct	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0005446	foramen rotundum	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0005745	optic foramen	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0006271	orbital fissure	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0006668	carotid canal	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0006682	hypoglossal canal	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0018321	foramen for glossopharyngeal nerve	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0018413	facial nerve canal	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0018415	ethmoid foramen	http://purl.obolibrary.org/obo/UBERON_0013685	foramen of skull		
http://purl.obolibrary.org/obo/UBERON_0000021	cutaneous appendage	http://purl.obolibrary.org/obo/UBERON_0013703	integumentary projection		
http://purl.obolibrary.org/obo/UBERON_0009564	distal limb integumentary appendage	http://purl.obolibrary.org/obo/UBERON_0013703	integumentary projection		
http://purl.obolibrary.org/obo/UBERON_0018531	female superficial inguinal ring	http://purl.obolibrary.org/obo/UBERON_0018529	female inguinal ring		
http://purl.obolibrary.org/obo/UBERON_0018532	female deep inguinal ring	http://purl.obolibrary.org/obo/UBERON_0018530	male inguinal ring		
http://purl.obolibrary.org/obo/UBERON_0002025	stratum basale of epidermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0002026	stratum spinosum of epidermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0002027	stratum corneum of epidermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0002069	stratum granulosum of epidermis	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0010402	epidermis suprabasal layer	http://purl.obolibrary.org/obo/UBERON_0013754	integumentary system layer		
http://purl.obolibrary.org/obo/UBERON_0012168	umbilical cord blood	http://purl.obolibrary.org/obo/UBERON_0013755	arterial blood		
http://purl.obolibrary.org/obo/UBERON_0013759	internal cervical os	http://purl.obolibrary.org/obo/UBERON_0013758	cervical os		
http://purl.obolibrary.org/obo/UBERON_0013760	external cervical os	http://purl.obolibrary.org/obo/UBERON_0013758	cervical os		
http://purl.obolibrary.org/obo/UBERON_0001154	vermiform appendix	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0000378	tongue muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0010039	food storage organ	http://purl.obolibrary.org/obo/UBERON_0013765	digestive system element		
http://purl.obolibrary.org/obo/UBERON_0034670	palatal taste bud	http://purl.obolibrary.org/obo/UBERON_0034722	mouth roof taste bud		
http://purl.obolibrary.org/obo/UBERON_0010165	collection of hair on face	http://purl.obolibrary.org/obo/UBERON_0014382	collection of hairs on head or neck		
http://purl.obolibrary.org/obo/UBERON_1000004	collection of hair on external ear	http://purl.obolibrary.org/obo/UBERON_0014382	collection of hairs on head or neck		
http://purl.obolibrary.org/obo/UBERON_0010413	parametrial fat pad	http://purl.obolibrary.org/obo/UBERON_0015143	mesenteric fat pad		
http://purl.obolibrary.org/obo/UBERON_0014400	hepatic sinusoidal space	http://purl.obolibrary.org/obo/UBERON_0014399	sinusoidal space		
http://purl.obolibrary.org/obo/UBERON_0007198	hermaphrodite anatomical structure	http://purl.obolibrary.org/obo/UBERON_0014402	sex-specific anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0014403	male anatomical structure	http://purl.obolibrary.org/obo/UBERON_0014402	sex-specific anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0014404	female anatomical structure	http://purl.obolibrary.org/obo/UBERON_0014402	sex-specific anatomical structure		
http://purl.obolibrary.org/obo/UBERON_0002921	longitudinal fissure	http://purl.obolibrary.org/obo/UBERON_0014466	subarachnoid fissure		
http://purl.obolibrary.org/obo/UBERON_0003980	cerebellum fissure	http://purl.obolibrary.org/obo/UBERON_0014466	subarachnoid fissure		
http://purl.obolibrary.org/obo/UBERON_0014531	white matter lamina of diencephalon	http://purl.obolibrary.org/obo/UBERON_0014530	white matter lamina of neuraxis		
http://purl.obolibrary.org/obo/UBERON_0014532	white matter lamina of cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0014530	white matter lamina of neuraxis		
http://purl.obolibrary.org/obo/UBERON_0014540	white matter lamina of cerebellum	http://purl.obolibrary.org/obo/UBERON_0014530	white matter lamina of neuraxis		
http://purl.obolibrary.org/obo/UBERON_0014541	thoracic division of spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0014538	subdivision of spinal cord central canal		
http://purl.obolibrary.org/obo/UBERON_0014542	cervical division of cord spinal central canal	http://purl.obolibrary.org/obo/UBERON_0014538	subdivision of spinal cord central canal		
http://purl.obolibrary.org/obo/UBERON_0014543	lumbar division of spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0014538	subdivision of spinal cord central canal		
http://purl.obolibrary.org/obo/UBERON_0014547	sacral division of spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0014538	subdivision of spinal cord central canal		
http://purl.obolibrary.org/obo/UBERON_0035053	interlobular duct of salivary gland	http://purl.obolibrary.org/obo/UBERON_0035049	excretory duct of salivary gland		
http://purl.obolibrary.org/obo/UBERON_8600012	submucosal gland acinus	http://purl.obolibrary.org/obo/UBERON_0014717	mucous acinus		
http://purl.obolibrary.org/obo/UBERON_0014766	right crus of diaphragm	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0014767	left crus of diaphragm	http://purl.obolibrary.org/obo/UBERON_0015212	lateral structure		
http://purl.obolibrary.org/obo/UBERON_0002459	inferior palpebral vein	http://purl.obolibrary.org/obo/UBERON_0014769	palpebral vein		
http://purl.obolibrary.org/obo/UBERON_0014768	superior palpebral vein	http://purl.obolibrary.org/obo/UBERON_0014769	palpebral vein		
http://purl.obolibrary.org/obo/UBERON_0004471	musculature of pectoral girdle	http://purl.obolibrary.org/obo/UBERON_0014793	musculature of pectoral complex		
http://purl.obolibrary.org/obo/UBERON_0014871	distal epiphysis of distal phalanx of pedal digit 1	http://purl.obolibrary.org/obo/UBERON_0014876	distal epiphysis of distal phalanx of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0014872	distal epiphysis of distal phalanx of pedal digit 2	http://purl.obolibrary.org/obo/UBERON_0014876	distal epiphysis of distal phalanx of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0014873	distal epiphysis of distal phalanx of pedal digit 3	http://purl.obolibrary.org/obo/UBERON_0014876	distal epiphysis of distal phalanx of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0014874	distal epiphysis of distal phalanx of pedal digit 4	http://purl.obolibrary.org/obo/UBERON_0014876	distal epiphysis of distal phalanx of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0014875	distal epiphysis of distal phalanx of pedal digit 5	http://purl.obolibrary.org/obo/UBERON_0014876	distal epiphysis of distal phalanx of pedal digit		
http://purl.obolibrary.org/obo/UBERON_0014881	distal epiphysis of distal phalanx of manual digit 1	http://purl.obolibrary.org/obo/UBERON_0014886	distal epiphysis of distal phalanx of manual digit		
http://purl.obolibrary.org/obo/UBERON_0014882	distal epiphysis of distal phalanx of manual digit 2	http://purl.obolibrary.org/obo/UBERON_0014886	distal epiphysis of distal phalanx of manual digit		
http://purl.obolibrary.org/obo/UBERON_0014883	distal epiphysis of distal phalanx of manual digit 3	http://purl.obolibrary.org/obo/UBERON_0014886	distal epiphysis of distal phalanx of manual digit		
http://purl.obolibrary.org/obo/UBERON_0014884	distal epiphysis of distal phalanx of manual digit 4	http://purl.obolibrary.org/obo/UBERON_0014886	distal epiphysis of distal phalanx of manual digit		
http://purl.obolibrary.org/obo/UBERON_0014885	distal epiphysis of distal phalanx of manual digit 5	http://purl.obolibrary.org/obo/UBERON_0014886	distal epiphysis of distal phalanx of manual digit		
http://purl.obolibrary.org/obo/UBERON_0014649	white matter of medulla oblongata	http://purl.obolibrary.org/obo/UBERON_0019262	white matter of myelencephalon		
http://purl.obolibrary.org/obo/UBERON_0019292	white matter of pons	http://purl.obolibrary.org/obo/UBERON_0019291	white matter of metencephalon		
http://purl.obolibrary.org/obo/UBERON_0000366	flexor muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0001482	muscle of shoulder	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0003661	limb muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0003897	axial muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0004518	muscle of vertebral column	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0010890	pelvic complex muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0010891	pectoral complex muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0010959	craniocervical muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0011364	cleidocephalicus muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0011371	sternocephalicus muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0034908	scapular muscle	http://purl.obolibrary.org/obo/UBERON_0014892	skeletal muscle organ, vertebrate		
http://purl.obolibrary.org/obo/UBERON_0004035	cortical subplate	http://purl.obolibrary.org/obo/UBERON_0014950	layer of developing cerebral cortex		
http://purl.obolibrary.org/obo/UBERON_0004040	cortical intermediate zone	http://purl.obolibrary.org/obo/UBERON_0014950	layer of developing cerebral cortex		
http://purl.obolibrary.org/obo/UBERON_0005343	cortical plate	http://purl.obolibrary.org/obo/UBERON_0014950	layer of developing cerebral cortex		
http://purl.obolibrary.org/obo/UBERON_0034711	cortical preplate	http://purl.obolibrary.org/obo/UBERON_0014950	layer of developing cerebral cortex		
http://purl.obolibrary.org/obo/UBERON_0015001	radius endochondral element	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015002	radius-ulna endochondral element	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015003	ulna endochondral element	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015024	manual digit phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015023	phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015049	carpus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015053	humerus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015004	tibia endochondral element	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015013	fibula endochondral element	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015030	pedal digit phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015023	phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015050	tarsus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015052	femur endochondral element	http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010701	phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0015064	autopod cartilage		
http://purl.obolibrary.org/obo/UBERON_0015025	manual digit 1 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015024	manual digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015026	manual digit 2 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015024	manual digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015027	manual digit 3 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015024	manual digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015028	manual digit 4 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015024	manual digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015029	manual digit 5 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015024	manual digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015031	pedal digit 1 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015030	pedal digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015032	pedal digit 2 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015030	pedal digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015033	pedal digit 3 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015030	pedal digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015034	pedal digit 4 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015030	pedal digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015035	pedal digit 5 phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015030	pedal digit phalanx endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010697	pedal digit metatarsal cartilage element	http://purl.obolibrary.org/obo/UBERON_0035129	pes cartilage element		
http://purl.obolibrary.org/obo/UBERON_0015037	pedal digit 1 metatarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015038	pedal digit 2 metatarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015039	pedal digit 3 metatarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015040	pedal digit 4 metatarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015041	pedal digit 5 metatarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0015036	pedal digit metatarsal endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010699	manual digit metacarpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0035128	manus cartilage element		
http://purl.obolibrary.org/obo/UBERON_0015043	manual digit 1 metacarpus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015044	manual digit 2 metacarpus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015045	manual digit 3 metacarpus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015046	manual digit 4 metacarpus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015047	manual digit 5 metacarpus endochondral element	http://purl.obolibrary.org/obo/UBERON_0015042	manual digit metacarpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015068	distal carpal endochondral element	http://purl.obolibrary.org/obo/UBERON_0018099	distal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015078	proximal carpal endochondral element	http://purl.obolibrary.org/obo/UBERON_0017750	proximal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015093	distal carpal bone 4 endochondral element	http://purl.obolibrary.org/obo/UBERON_0015049	carpus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015014	calcaneum endochondral element	http://purl.obolibrary.org/obo/UBERON_0015050	tarsus endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015081	proximal tarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0017750	proximal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015099	distal tarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0018099	distal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0006291	scapula pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015057	scapula endochondral element		
http://purl.obolibrary.org/obo/UBERON_0010882	limb bone pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015021	forelimb endochondral element	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015022	hindlimb endochondral element	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element	http://purl.obolibrary.org/obo/UBERON_0015061	limb endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015023	phalanx endochondral element	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0017750	proximal mesopodial endochondral element	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0018099	distal mesopodial endochondral element	http://purl.obolibrary.org/obo/UBERON_0015063	autopod endochondral element		
http://purl.obolibrary.org/obo/UBERON_0017751	proximal mesopodial cartilage element	http://purl.obolibrary.org/obo/UBERON_0017750	proximal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0018100	distal mesopodial cartilage element	http://purl.obolibrary.org/obo/UBERON_0018099	distal mesopodial endochondral element		
http://purl.obolibrary.org/obo/UBERON_0015069	distal carpal cartilage element	http://purl.obolibrary.org/obo/UBERON_0035128	manus cartilage element		
http://purl.obolibrary.org/obo/UBERON_0015079	proximal carpal cartilage	http://purl.obolibrary.org/obo/UBERON_0035128	manus cartilage element		
http://purl.obolibrary.org/obo/UBERON_0015082	proximal tarsal cartilage	http://purl.obolibrary.org/obo/UBERON_0035129	pes cartilage element		
http://purl.obolibrary.org/obo/UBERON_0015094	distal carpal bone 4 cartilage	http://purl.obolibrary.org/obo/UBERON_0035128	manus cartilage element		
http://purl.obolibrary.org/obo/UBERON_0015100	distal tarsal cartilage	http://purl.obolibrary.org/obo/UBERON_0035129	pes cartilage element		
http://purl.obolibrary.org/obo/UBERON_0015145	pes hair	http://purl.obolibrary.org/obo/UBERON_0015144	autopod hair		
http://purl.obolibrary.org/obo/UBERON_0015146	manus hair	http://purl.obolibrary.org/obo/UBERON_0015144	autopod hair		
http://purl.obolibrary.org/obo/UBERON_0015154	lateral gland of orbital region	http://purl.obolibrary.org/obo/UBERON_0015152	gland of ocular region		
http://purl.obolibrary.org/obo/UBERON_0000018	compound eye	http://purl.obolibrary.org/obo/UBERON_0015165	multi-unit eye		
http://purl.obolibrary.org/obo/UBERON_0001032	sensory system	http://purl.obolibrary.org/obo/UBERON_0015203	non-connected functional system		
http://purl.obolibrary.org/obo/UBERON_0002405	immune system	http://purl.obolibrary.org/obo/UBERON_0015203	non-connected functional system		
http://purl.obolibrary.org/obo/UBERON_0015204	glandular system	http://purl.obolibrary.org/obo/UBERON_0015203	non-connected functional system		
http://purl.obolibrary.org/obo/UBERON_0000949	endocrine system	http://purl.obolibrary.org/obo/UBERON_0015204	glandular system		
http://purl.obolibrary.org/obo/UBERON_0001567	cheek	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0002257	ventral horn of spinal cord	http://purl.obolibrary.org/obo/UBERON_0016550	spinal cord column		
http://purl.obolibrary.org/obo/UBERON_0003706	laryngeal vocal fold	http://purl.obolibrary.org/obo/UBERON_0034681	vocal organ		
http://purl.obolibrary.org/obo/UBERON_0004084	genital labium	http://purl.obolibrary.org/obo/UBERON_8480029	skin of external genitalia		
http://purl.obolibrary.org/obo/UBERON_0015215	median arcuate ligament	http://purl.obolibrary.org/obo/UBERON_0015214	arcuate ligament		
http://purl.obolibrary.org/obo/UBERON_0007100	primary circulatory organ	http://purl.obolibrary.org/obo/UBERON_0015228	circulatory organ		
http://purl.obolibrary.org/obo/UBERON_0005275	dorsal skin of digit	http://purl.obolibrary.org/obo/UBERON_0015249	digit skin		
http://purl.obolibrary.org/obo/UBERON_0009652	bronchus basement membrane	http://purl.obolibrary.org/obo/UBERON_0015329	respiratory system basement membrane		
http://purl.obolibrary.org/obo/UBERON_0009653	trachea basement membrane	http://purl.obolibrary.org/obo/UBERON_0015329	respiratory system basement membrane		
http://purl.obolibrary.org/obo/UBERON_0034769	lymphomyeloid tissue	http://purl.obolibrary.org/obo/UBERON_0015757	heterogeneous tissue		
http://purl.obolibrary.org/obo/UBERON_0015788	olfactory apparatus chamber	http://purl.obolibrary.org/obo/UBERON_0015787	upper respiratory conduit		
http://purl.obolibrary.org/obo/UBERON_0001577	facial muscle	http://purl.obolibrary.org/obo/UBERON_0015789	cranial or facial muscle		
http://purl.obolibrary.org/obo/UBERON_0013776	skin of palmar/plantar part of autopod	http://purl.obolibrary.org/obo/UBERON_0015790	autopod skin		
http://purl.obolibrary.org/obo/UBERON_0015249	digit skin	http://purl.obolibrary.org/obo/UBERON_0015790	autopod skin		
http://purl.obolibrary.org/obo/UBERON_0006937	inner ear epithelium	http://purl.obolibrary.org/obo/UBERON_0015807	ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0015813	middle ear epithelium	http://purl.obolibrary.org/obo/UBERON_0015807	ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0015814	outer ear epithelium	http://purl.obolibrary.org/obo/UBERON_0015807	ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0001772	corneal epithelium	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0004817	lacrimal gland epithelium	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0005638	anterior chamber epithelium	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0035034	eyelid epithelium	http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium		
http://purl.obolibrary.org/obo/UBERON_0006938	pinna surface epithelium	http://purl.obolibrary.org/obo/UBERON_0015814	outer ear epithelium		
http://purl.obolibrary.org/obo/UBERON_0002509	mesenteric lymph node	http://purl.obolibrary.org/obo/UBERON_0015860	visceral abdominal lymph node		
http://purl.obolibrary.org/obo/UBERON_0037531	intestinal lymph node	http://purl.obolibrary.org/obo/UBERON_0015860	visceral abdominal lymph node		
http://purl.obolibrary.org/obo/UBERON_0015871	facial lymph node	http://purl.obolibrary.org/obo/UBERON_0015870	lymph node of head		
http://purl.obolibrary.org/obo/UBERON_0016392	mastoid lymph node	http://purl.obolibrary.org/obo/UBERON_0015870	lymph node of head		
http://purl.obolibrary.org/obo/UBERON_0010171	strand of hair of face	http://purl.obolibrary.org/obo/UBERON_0016446	hair of head		
http://purl.obolibrary.org/obo/UBERON_0022279	strand of hair on external ear	http://purl.obolibrary.org/obo/UBERON_0016446	hair of head		
http://purl.obolibrary.org/obo/UBERON_8420000	hair of scalp	http://purl.obolibrary.org/obo/UBERON_0016446	hair of head		
http://purl.obolibrary.org/obo/UBERON_0001871	temporal lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0002021	occipital lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0001872	parietal lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0016525	frontal lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0002600	limbic lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0005366	olfactory lobe	http://purl.obolibrary.org/obo/UBERON_0016526	lobe of cerebral hemisphere		
http://purl.obolibrary.org/obo/UBERON_0016528	white matter of frontal lobe	http://purl.obolibrary.org/obo/UBERON_0016527	white matter of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0016531	white matter of parietal lobe	http://purl.obolibrary.org/obo/UBERON_0016527	white matter of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0016534	white matter of temporal lobe	http://purl.obolibrary.org/obo/UBERON_0016527	white matter of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0016535	white matter of occipital lobe	http://purl.obolibrary.org/obo/UBERON_0016527	white matter of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0016536	white matter of limbic lobe	http://purl.obolibrary.org/obo/UBERON_0016527	white matter of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0001870	frontal cortex	http://purl.obolibrary.org/obo/UBERON_0016529	cortex of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0016530	parietal cortex	http://purl.obolibrary.org/obo/UBERON_0016529	cortex of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0016538	temporal cortex	http://purl.obolibrary.org/obo/UBERON_0016529	cortex of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0016540	occipital cortex	http://purl.obolibrary.org/obo/UBERON_0016529	cortex of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0016542	limbic cortex	http://purl.obolibrary.org/obo/UBERON_0016529	cortex of cerebral lobe		
http://purl.obolibrary.org/obo/UBERON_0005375	spinal cord ventral column	http://purl.obolibrary.org/obo/UBERON_0016550	spinal cord column		
http://purl.obolibrary.org/obo/UBERON_0016551	subdivision of spinal cord ventral column	http://purl.obolibrary.org/obo/UBERON_0016550	spinal cord column		
http://purl.obolibrary.org/obo/UBERON_0005852	thoracic spinal cord ventral column	http://purl.obolibrary.org/obo/UBERON_0016551	subdivision of spinal cord ventral column		
http://purl.obolibrary.org/obo/UBERON_0005853	sacral spinal cord ventral column	http://purl.obolibrary.org/obo/UBERON_0016551	subdivision of spinal cord ventral column		
http://purl.obolibrary.org/obo/UBERON_0005854	cervical spinal cord ventral column	http://purl.obolibrary.org/obo/UBERON_0016551	subdivision of spinal cord ventral column		
http://purl.obolibrary.org/obo/UBERON_0005855	lumbar spinal cord ventral column	http://purl.obolibrary.org/obo/UBERON_0016551	subdivision of spinal cord ventral column		
http://purl.obolibrary.org/obo/UBERON_0000931	proctodeum	http://purl.obolibrary.org/obo/UBERON_0016566	pit		
http://purl.obolibrary.org/obo/UBERON_0004885	hilum	http://purl.obolibrary.org/obo/UBERON_0016566	pit		
http://purl.obolibrary.org/obo/UBERON_0005870	olfactory pit	http://purl.obolibrary.org/obo/UBERON_0016566	pit		
http://purl.obolibrary.org/obo/UBERON_0006273	otic pit	http://purl.obolibrary.org/obo/UBERON_0016566	pit		
http://purl.obolibrary.org/obo/UBERON_0016853	interdigital gland	http://purl.obolibrary.org/obo/UBERON_0016852	skin scent gland		
http://purl.obolibrary.org/obo/UBERON_0005068	neural rod	http://purl.obolibrary.org/obo/UBERON_0016879	future central nervous system		
http://purl.obolibrary.org/obo/UBERON_0007135	neural keel	http://purl.obolibrary.org/obo/UBERON_0016879	future central nervous system		
http://purl.obolibrary.org/obo/UBERON_0007284	presumptive neural plate	http://purl.obolibrary.org/obo/UBERON_0016879	future central nervous system		
http://purl.obolibrary.org/obo/UBERON_0004403	periosteum of epiphysis	http://purl.obolibrary.org/obo/UBERON_0016896	periosteum of long bone		
http://purl.obolibrary.org/obo/UBERON_0001641	transverse sinus	http://purl.obolibrary.org/obo/UBERON_0017635	paired venous dural sinus		
http://purl.obolibrary.org/obo/UBERON_0005475	sigmoid sinus	http://purl.obolibrary.org/obo/UBERON_0017635	paired venous dural sinus		
http://purl.obolibrary.org/obo/UBERON_0007160	inferior petrosal sinus	http://purl.obolibrary.org/obo/UBERON_0017635	paired venous dural sinus		
http://purl.obolibrary.org/obo/UBERON_0005481	tentorial sinus	http://purl.obolibrary.org/obo/UBERON_0017640	unpaired venous dural sinus		
http://purl.obolibrary.org/obo/UBERON_0003082	myotome	http://purl.obolibrary.org/obo/UBERON_0017650	developing mesenchymal structure		
http://purl.obolibrary.org/obo/UBERON_0004016	dermatome	http://purl.obolibrary.org/obo/UBERON_0017650	developing mesenchymal structure		
http://purl.obolibrary.org/obo/UBERON_0006297	sublingual gland primordium	http://purl.obolibrary.org/obo/UBERON_0017651	salivary gland primordium		
http://purl.obolibrary.org/obo/UBERON_0006298	submandibular gland primordium	http://purl.obolibrary.org/obo/UBERON_0017651	salivary gland primordium		
http://purl.obolibrary.org/obo/UBERON_0018247	cervical thymic artery	http://purl.obolibrary.org/obo/UBERON_0018243	thymic artery		
http://purl.obolibrary.org/obo/UBERON_0001200	submucosa of stomach	http://purl.obolibrary.org/obo/UBERON_0018257	submucosa of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0001972	submucosa of esophagus	http://purl.obolibrary.org/obo/UBERON_0018257	submucosa of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0009566	intestinal submucosa	http://purl.obolibrary.org/obo/UBERON_0018257	submucosa of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0012482	submucosa of cloaca	http://purl.obolibrary.org/obo/UBERON_0018257	submucosa of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0034933	layer of smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0018260	layer of muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0008856	stomach muscularis externa	http://purl.obolibrary.org/obo/UBERON_0034933	layer of smooth muscle tissue		
http://purl.obolibrary.org/obo/UBERON_0011878	muscle layer of esophagus	http://purl.obolibrary.org/obo/UBERON_0018261	muscular coat of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0012367	muscle layer of intestine	http://purl.obolibrary.org/obo/UBERON_0018261	muscular coat of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0012486	muscle layer of cloaca	http://purl.obolibrary.org/obo/UBERON_0018261	muscular coat of digestive tract		
http://purl.obolibrary.org/obo/UBERON_0005456	jugular foramen	http://purl.obolibrary.org/obo/UBERON_0018321	foramen for glossopharyngeal nerve		
http://purl.obolibrary.org/obo/UBERON_0003381	cardiac muscle of right ventricle	http://purl.obolibrary.org/obo/UBERON_0018649	cardiac muscle tissue of ventricle		
http://purl.obolibrary.org/obo/UBERON_0003382	cardiac muscle of left ventricle	http://purl.obolibrary.org/obo/UBERON_0018649	cardiac muscle tissue of ventricle		
http://purl.obolibrary.org/obo/UBERON_0003253	neck of rib	http://purl.obolibrary.org/obo/UBERON_0018664	neck of bone element		
http://purl.obolibrary.org/obo/UBERON_0018667	neck of scapula	http://purl.obolibrary.org/obo/UBERON_0018664	neck of bone element		
http://purl.obolibrary.org/obo/UBERON_0001295	endometrium	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0004983	mucosa of vagina	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0004984	mucosa of seminal vesicle	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0004985	mucosa of ejaculatory duct	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0004986	mucosa of deferent duct	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0005048	mucosa of fallopian tube	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0005049	mucosa of infundibulum of uterine tube	http://purl.obolibrary.org/obo/UBERON_0019042	reproductive system mucosa		
http://purl.obolibrary.org/obo/UBERON_0006052	digit 5	http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0006048	digit 1	http://purl.obolibrary.org/obo/UBERON_0019221	digit 1 or 5		
http://purl.obolibrary.org/obo/UBERON_0006049	digit 2	http://purl.obolibrary.org/obo/UBERON_0019222	digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0006050	digit 3	http://purl.obolibrary.org/obo/UBERON_0019222	digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0006051	digit 4	http://purl.obolibrary.org/obo/UBERON_0019222	digit 2, 3 or 4		
http://purl.obolibrary.org/obo/UBERON_0019262	white matter of myelencephalon	http://purl.obolibrary.org/obo/UBERON_0019258	white matter of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0019291	white matter of metencephalon	http://purl.obolibrary.org/obo/UBERON_0019258	white matter of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0003931	diencephalic white matter	http://purl.obolibrary.org/obo/UBERON_0019261	white matter of forebrain		
http://purl.obolibrary.org/obo/UBERON_0011299	white matter of telencephalon	http://purl.obolibrary.org/obo/UBERON_0019261	white matter of forebrain		
http://purl.obolibrary.org/obo/UBERON_0002129	cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0019263	gray matter of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0002610	cochlear nuclear complex	http://purl.obolibrary.org/obo/UBERON_0019263	gray matter of hindbrain		
http://purl.obolibrary.org/obo/UBERON_0011300	gray matter of telencephalon	http://purl.obolibrary.org/obo/UBERON_0019264	gray matter of forebrain		
http://purl.obolibrary.org/obo/UBERON_0019269	gray matter of diencephalon	http://purl.obolibrary.org/obo/UBERON_0019264	gray matter of forebrain		
http://purl.obolibrary.org/obo/UBERON_0024045	white matter of the cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0019291	white matter of metencephalon		
http://purl.obolibrary.org/obo/UBERON_0019293	white matter of pontine tegmentum	http://purl.obolibrary.org/obo/UBERON_0019292	white matter of pons		
http://purl.obolibrary.org/obo/UBERON_0002473	intercerebral commissure	http://purl.obolibrary.org/obo/UBERON_0019294	commissure of telencephalon		
http://purl.obolibrary.org/obo/UBERON_0005340	dorsal telencephalic commissure	http://purl.obolibrary.org/obo/UBERON_0019294	commissure of telencephalon		
http://purl.obolibrary.org/obo/UBERON_0007625	pigment epithelium of eye	http://purl.obolibrary.org/obo/UBERON_0019304	sensory organ epithelium		
http://purl.obolibrary.org/obo/UBERON_0015807	ear epithelium	http://purl.obolibrary.org/obo/UBERON_0019304	sensory organ epithelium		
http://purl.obolibrary.org/obo/UBERON_0015808	eye epithelium	http://purl.obolibrary.org/obo/UBERON_0019304	sensory organ epithelium		
http://purl.obolibrary.org/obo/UBERON_0019306	nose epithelium	http://purl.obolibrary.org/obo/UBERON_0019304	sensory organ epithelium		
http://purl.obolibrary.org/obo/UBERON_0004692	external naris epithelium	http://purl.obolibrary.org/obo/UBERON_0035036	naris epithelium		
http://purl.obolibrary.org/obo/UBERON_0022277	hepatic flexure of colon	http://purl.obolibrary.org/obo/UBERON_0022275	colic flexure		
http://purl.obolibrary.org/obo/UBERON_0022276	splenic flexure of colon	http://purl.obolibrary.org/obo/UBERON_0022275	colic flexure		
http://purl.obolibrary.org/obo/UBERON_0015147	pinna hair	http://purl.obolibrary.org/obo/UBERON_0022279	strand of hair on external ear		
http://purl.obolibrary.org/obo/UBERON_0006536	male reproductive gland secretion	http://purl.obolibrary.org/obo/UBERON_0022293	reproductive gland secretion		
http://purl.obolibrary.org/obo/UBERON_0006537	female reproductive gland secretion	http://purl.obolibrary.org/obo/UBERON_0022293	reproductive gland secretion		
http://purl.obolibrary.org/obo/UBERON_0022296	inferior palpebral branch of infra-orbital nerve	http://purl.obolibrary.org/obo/UBERON_0022298	lower eyelid nerve		
http://purl.obolibrary.org/obo/UBERON_0001781	layer of retina	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0002301	layer of neocortex	http://purl.obolibrary.org/obo/UBERON_8440004	laminar subdivision of the cortex		
http://purl.obolibrary.org/obo/UBERON_0016548	central nervous system gray matter layer	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0016549	central nervous system white matter layer	http://purl.obolibrary.org/obo/UBERON_0022303	nervous system cell part layer		
http://purl.obolibrary.org/obo/UBERON_0001178	visceral peritoneum	http://purl.obolibrary.org/obo/UBERON_0022350	visceral serous membrane		
http://purl.obolibrary.org/obo/UBERON_0002401	visceral pleura	http://purl.obolibrary.org/obo/UBERON_0022350	visceral serous membrane		
http://purl.obolibrary.org/obo/UBERON_0002425	visceral serous pericardium	http://purl.obolibrary.org/obo/UBERON_0022350	visceral serous membrane		
http://purl.obolibrary.org/obo/UBERON_0001366	parietal peritoneum	http://purl.obolibrary.org/obo/UBERON_0022351	parietal serous membrane		
http://purl.obolibrary.org/obo/UBERON_0002408	parietal serous pericardium	http://purl.obolibrary.org/obo/UBERON_0022351	parietal serous membrane		
http://purl.obolibrary.org/obo/UBERON_0004183	placental labyrinth blood vessel	http://purl.obolibrary.org/obo/UBERON_0022358	placenta blood vessel		
http://purl.obolibrary.org/obo/UBERON_0005344	peritoneal vaginal process	http://purl.obolibrary.org/obo/UBERON_0034696	fold of peritoneum		
http://purl.obolibrary.org/obo/UBERON_0034706	proliferating neuroepithelium	http://purl.obolibrary.org/obo/UBERON_0034705	developing neuroepithelium		
http://purl.obolibrary.org/obo/UBERON_0034707	differentiating neuroepithelium	http://purl.obolibrary.org/obo/UBERON_0034705	developing neuroepithelium		
http://purl.obolibrary.org/obo/UBERON_0034708	cerebellum marginal layer	http://purl.obolibrary.org/obo/UBERON_0034709	hindbrain marginal layer		
http://purl.obolibrary.org/obo/UBERON_0034715	pineal tract	http://purl.obolibrary.org/obo/UBERON_0034714	epiphyseal tract		
http://purl.obolibrary.org/obo/UBERON_0034720	head taste bud	http://purl.obolibrary.org/obo/UBERON_0034717	integumental taste bud		
http://purl.obolibrary.org/obo/UBERON_0003715	splanchnic nerve	http://purl.obolibrary.org/obo/UBERON_0034729	sympathetic nerve		
http://purl.obolibrary.org/obo/UBERON_0000200	gyrus	http://purl.obolibrary.org/obo/UBERON_0034768	morphological feature		
http://purl.obolibrary.org/obo/UBERON_0004529	anatomical projection	http://purl.obolibrary.org/obo/UBERON_0034768	morphological feature		
http://purl.obolibrary.org/obo/UBERON_0001744	lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0034769	lymphomyeloid tissue		
http://purl.obolibrary.org/obo/UBERON_0012429	hematopoietic tissue	http://purl.obolibrary.org/obo/UBERON_0034769	lymphomyeloid tissue		
http://purl.obolibrary.org/obo/UBERON_0034947	gas in respiratory system	http://purl.obolibrary.org/obo/UBERON_0034873	bodily gas		
http://purl.obolibrary.org/obo/UBERON_0001733	soft palate	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0001846	internal ear	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0003216	hard palate	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0001756	middle ear	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0001279	portal triad	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0001839	bony labyrinth	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0001844	cochlea	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0003110	otic region	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0003111	sphenoid region	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0003112	olfactory region	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0004090	periorbital region	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0004905	articulation	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0005902	occipital region	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0008814	pharyngeal arch system	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0010212	laryngeal apparatus	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0011241	ethmoid region	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0035639	ocular adnexa	http://purl.obolibrary.org/obo/UBERON_0034921	multi organ part structure		
http://purl.obolibrary.org/obo/UBERON_0000006	islet of Langerhans	http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster		
http://purl.obolibrary.org/obo/UBERON_0009842	glandular acinus	http://purl.obolibrary.org/obo/UBERON_0034922	cell cluster		
http://purl.obolibrary.org/obo/UBERON_0000477	anatomical cluster	http://purl.obolibrary.org/obo/UBERON_0034923	disconnected anatomical group		
http://purl.obolibrary.org/obo/UBERON_0010009	aggregate regional part of brain	http://purl.obolibrary.org/obo/UBERON_0034923	disconnected anatomical group		
http://purl.obolibrary.org/obo/UBERON_0015203	non-connected functional system	http://purl.obolibrary.org/obo/UBERON_0034923	disconnected anatomical group		
http://purl.obolibrary.org/obo/UBERON_0010743	meningeal cluster	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0000170	pair of lungs	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0002109	pair of nares	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0003672	dentition	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0004288	skeleton	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0004770	articular system	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0010164	collection of hairs	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0034926	anatomical row	http://purl.obolibrary.org/obo/UBERON_0034925	anatomical collection		
http://purl.obolibrary.org/obo/UBERON_0000341	throat	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0007827	external nose	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0009472	axilla	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0018691	ventral side of post-anal tail	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0018692	dorsal side of post-anal tail	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_1000011	labial commissure	http://purl.obolibrary.org/obo/UBERON_0034929	external soft tissue zone		
http://purl.obolibrary.org/obo/UBERON_0004820	bile duct epithelium	http://purl.obolibrary.org/obo/UBERON_0034969	epithelial layer of duct		
http://purl.obolibrary.org/obo/UBERON_0001457	skin of eyelid	http://purl.obolibrary.org/obo/UBERON_1000021	skin of face		
http://purl.obolibrary.org/obo/UBERON_0001458	skin of lip	http://purl.obolibrary.org/obo/UBERON_1000021	skin of face		
http://purl.obolibrary.org/obo/UBERON_0008803	skin of cheek	http://purl.obolibrary.org/obo/UBERON_1000021	skin of face		
http://purl.obolibrary.org/obo/UBERON_0015476	nose skin	http://purl.obolibrary.org/obo/UBERON_1000021	skin of face		
http://purl.obolibrary.org/obo/UBERON_0016462	periorbital skin	http://purl.obolibrary.org/obo/UBERON_1000021	skin of face		
http://purl.obolibrary.org/obo/UBERON_0016475	skin of forehead	http://purl.obolibrary.org/obo/UBERON_1000021	skin of face		
http://purl.obolibrary.org/obo/UBERON_0001250	red pulp of spleen	http://purl.obolibrary.org/obo/UBERON_1000023	spleen pulp		
http://purl.obolibrary.org/obo/UBERON_0001959	white pulp of spleen	http://purl.obolibrary.org/obo/UBERON_1000023	spleen pulp		
http://purl.obolibrary.org/obo/UBERON_2002260	premaxillary-maxillary joint	http://purl.obolibrary.org/obo/UBERON_2001950	inter-premaxillary joint		
http://purl.obolibrary.org/obo/UBERON_3010654	rectus cervicis	http://purl.obolibrary.org/obo/UBERON_3000224	hyobranchial muscle		
http://purl.obolibrary.org/obo/UBERON_3000972	head external integument structure	http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure		
http://purl.obolibrary.org/obo/UBERON_3000977	body external integument structure	http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure		
http://purl.obolibrary.org/obo/UBERON_3000981	limb external integument structure	http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure		
http://purl.obolibrary.org/obo/UBERON_3000982	tail external integument structure	http://purl.obolibrary.org/obo/UBERON_3000961	external integument structure		
http://purl.obolibrary.org/obo/UBERON_4000164	caudal fin	http://purl.obolibrary.org/obo/UBERON_4000162	median fin		
http://purl.obolibrary.org/obo/UBERON_4000167	caudal fin skeleton	http://purl.obolibrary.org/obo/UBERON_4000170	median fin skeleton		
http://purl.obolibrary.org/obo/UBERON_0002207	xiphoid process	http://purl.obolibrary.org/obo/UBERON_4100000	skeletal element projection		
http://purl.obolibrary.org/obo/UBERON_0004530	bony projection	http://purl.obolibrary.org/obo/UBERON_4100000	skeletal element projection		
http://purl.obolibrary.org/obo/UBERON_0006061	process of vertebra	http://purl.obolibrary.org/obo/UBERON_4100000	skeletal element projection		
http://purl.obolibrary.org/obo/UBERON_5003631	pedal digit 1 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006048	digit 1 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5003632	pedal digit 2 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006049	digit 2 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5003633	pedal digit 3 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006050	digit 3 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5003634	pedal digit 4 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006051	digit 4 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5003635	pedal digit 5 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006052	digit 5 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5001463	manual digit 1 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006048	digit 1 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5003622	manual digit 2 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006049	digit 2 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5003623	manual digit 3 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006050	digit 3 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5003624	manual digit 4 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006051	digit 4 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5003625	manual digit 5 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5006052	digit 5 plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5001466	pedal digit plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5002544	digit plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5002389	manual digit plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5002544	digit plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5006048	digit 1 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5002544	digit plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5006049	digit 2 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5002544	digit plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5006050	digit 3 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5002544	digit plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5006051	digit 4 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5002544	digit plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5006052	digit 5 plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5002544	digit plus metapodial segment		
http://purl.obolibrary.org/obo/UBERON_5103631	pedal digit 1 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106048	digit 1 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5103632	pedal digit 2 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106049	digit 2 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5103633	pedal digit 3 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106050	digit 3 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5103634	pedal digit 4 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106051	digit 4 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5103635	pedal digit 5 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106052	digit 5 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5101463	manual digit 1 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106048	digit 1 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5103622	manual digit 2 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106049	digit 2 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5103623	manual digit 3 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106050	digit 3 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5103624	manual digit 4 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106051	digit 4 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5103625	manual digit 5 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106052	digit 5 digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5101466	pedal digit digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5102544	individual digit of digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5102389	manual digit digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5102544	individual digit of digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5106048	digit 1 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5102544	individual digit of digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5106049	digit 2 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5102544	individual digit of digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5106050	digit 3 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5102544	individual digit of digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5106051	digit 4 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5102544	individual digit of digitopodial skeleton		
http://purl.obolibrary.org/obo/UBERON_5106052	digit 5 digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5102544	individual digit of digitopodial skeleton		
http://purl.obolibrary.org/obo/HP_0000492	Abnormal eyelid morphology	http://purl.obolibrary.org/obo/HP_0030669	Abnormal ocular adnexa morphology		
http://purl.obolibrary.org/obo/HP_0000502	Abnormal conjunctiva morphology	http://purl.obolibrary.org/obo/HP_0030669	Abnormal ocular adnexa morphology		
http://purl.obolibrary.org/obo/HP_0000614	Abnormal nasolacrimal system morphology	http://purl.obolibrary.org/obo/HP_0030669	Abnormal ocular adnexa morphology		
http://purl.obolibrary.org/obo/HP_0030671	Abnormal common tendinous ring morphology	http://purl.obolibrary.org/obo/HP_0030669	Abnormal ocular adnexa morphology		
http://purl.obolibrary.org/obo/NCBITaxon_28901	Salmonella enterica	http://purl.obolibrary.org/obo/NCBITaxon_590	Salmonella		
http://purl.obolibrary.org/obo/SO_0001506	variant_genome	http://purl.obolibrary.org/obo/SO_0001026	genome		
http://purl.obolibrary.org/obo/CLM_1000008	NS forest marker set of pulmonary alveolar type 1 cell (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000009	NS forest marker set of pulmonary alveolar type 2 cell (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000026	NS forest marker set of bronchial goblet cell (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000027	NS forest marker set of nasal mucosa goblet cell (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000032	NS forest marker set of pulmonary ionocyte (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000041	NS forest marker set of multiciliated columnar cell of tracheobronchial tree (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000043	NS forest marker set of pulmonary neuroendocrine cell (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000046	NS forest marker set of pulmonary interstitial fibroblast (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000047	NS forest marker set of lung pericyte (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000053	NS forest marker set of mucus secreting cell of bronchus submucosal gland (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000054	NS forest marker set of serous secreting cell of bronchus submucosal gland (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000056	NS forest marker set of tracheobronchial smooth muscle cell (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1000061	NS forest marker set of brush cell of tracheobronchial tree (Human lung).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/SO_0001026	genome	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/SO_0001507	variant_collection	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1001241	NS forest marker set of cone retinal bipolar cell (Human retina).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/CLM_1001261	NS forest marker set of cone retinal bipolar cell (Human retina).	http://purl.obolibrary.org/obo/SO_0001260	sequence_collection		
http://purl.obolibrary.org/obo/UBERON_0034946	gas excreted from digestive tract	http://purl.obolibrary.org/obo/UBERON_0034945	excreted gas		
http://purl.obolibrary.org/obo/HsapDv_0000266	young adult stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000260	nursing stage (0-11 months)	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000270	2-4 year-old child stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000001	life cycle	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000045	prenatal stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000096	2-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000097	3-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000098	4-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000099	5-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000100	6-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000101	7-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000102	8-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000103	9-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000104	10-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000105	11-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000106	12-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000107	13-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000108	14-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000109	15-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000110	16-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000111	17-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000112	18-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000113	19-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000115	21-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000116	22-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000117	23-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000118	24-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000119	25-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000120	26-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000121	27-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000122	28-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000123	29-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000124	30-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000125	31-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000126	32-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000127	33-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000128	34-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000129	35-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000130	36-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000131	37-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000132	38-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000133	39-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000134	40-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000135	41-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000136	42-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000137	43-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000138	44-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000139	45-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000140	46-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000141	47-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000142	48-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000143	49-year-old stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000237	third decade stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000238	fourth decade stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000239	fifth decade stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000240	sixth decade stage	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/HsapDv_0000268	15-19 year-old	http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage		
http://purl.obolibrary.org/obo/SO_0001784	complex_structural_alteration	http://purl.obolibrary.org/obo/SO_1000183	chromosome_structure_variation		
http://purl.obolibrary.org/obo/HP_0001328	Specific learning disability	http://purl.obolibrary.org/obo/HP_0012759	Neurodevelopmental abnormality		
http://purl.obolibrary.org/obo/HP_0012758	Neurodevelopmental delay	http://purl.obolibrary.org/obo/HP_0012759	Neurodevelopmental abnormality		
http://purl.obolibrary.org/obo/HP_0001220	Interphalangeal joint contracture of finger	http://purl.obolibrary.org/obo/HP_0012785	Flexion contracture of finger		
http://purl.obolibrary.org/obo/HP_0000648	Optic atrophy	http://purl.obolibrary.org/obo/HP_0012795	Abnormal optic disc morphology		
http://purl.obolibrary.org/obo/HP_0000060	Clitoral hypoplasia	http://purl.obolibrary.org/obo/HP_0040255	Aplasia/Hypoplasia of the clitoris		
http://purl.obolibrary.org/obo/HP_0012824	Severity	http://purl.obolibrary.org/obo/HP_0012823	Clinical modifier		
http://purl.obolibrary.org/obo/HP_0000025	Functional abnormality of male internal genitalia	http://purl.obolibrary.org/obo/HP_0012874	Abnormal male reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0012875	Abnormal ejaculation	http://purl.obolibrary.org/obo/HP_0012874	Abnormal male reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0000063	Fused labia minora	http://purl.obolibrary.org/obo/HP_0012880	Abnormal labia minora morphology		
http://purl.obolibrary.org/obo/HP_0012882	Hyperplastic labia majora	http://purl.obolibrary.org/obo/HP_0012881	Abnormal labia majora morphology		
http://purl.obolibrary.org/obo/HP_3000037	Abnormal neck blood vessel morphology	http://purl.obolibrary.org/obo/HP_0025668	Abnormal neck morphology		
http://purl.obolibrary.org/obo/HP_0001438	Abnormal abdomen morphology	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0002012	Abnormality of the abdominal organs	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0004298	Abnormal abdominal wall morphology	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0004378	Abnormality of the anus	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0011024	Abnormality of the gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0025031	Abnormality of the digestive system		
http://purl.obolibrary.org/obo/HP_0001341	Olfactory lobe agenesis	http://purl.obolibrary.org/obo/HP_0025057	Abnormal olfactory lobe morphology		
http://purl.obolibrary.org/obo/HP_0001410	Decreased liver function	http://purl.obolibrary.org/obo/HP_0025155	Abnormal hepatobiliary system physiology		
http://purl.obolibrary.org/obo/HP_0000970	Anhidrosis	http://purl.obolibrary.org/obo/HP_0025276	Abnormality of skin adnexa physiology		
http://purl.obolibrary.org/obo/HP_0007550	Hypohidrosis or hyperhidrosis	http://purl.obolibrary.org/obo/HP_0025276	Abnormality of skin adnexa physiology		
http://purl.obolibrary.org/obo/HP_0002490	Increased CSF lactate	http://purl.obolibrary.org/obo/HP_0030085	Abnormal CSF lactate concentration		
http://purl.obolibrary.org/obo/HP_0030846	Abnormality of venous physiology	http://purl.obolibrary.org/obo/HP_0030163	Abnormal vascular physiology		
http://purl.obolibrary.org/obo/HP_0030850	Abnormal pulse pressure	http://purl.obolibrary.org/obo/HP_0030163	Abnormal vascular physiology		
http://purl.obolibrary.org/obo/HP_0002346	Head tremor	http://purl.obolibrary.org/obo/HP_0030188	Tremor by anatomical site		
http://purl.obolibrary.org/obo/HP_0003398	Abnormal synaptic transmission at the neuromuscular junction	http://purl.obolibrary.org/obo/HP_0030191	Abnormal peripheral nervous system synaptic transmission		
http://purl.obolibrary.org/obo/HP_0001460	Aplasia/Hypoplasia involving the skeletal musculature	http://purl.obolibrary.org/obo/HP_0030236	Abnormality of muscle size		
http://purl.obolibrary.org/obo/HP_0003712	Skeletal muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0030236	Abnormality of muscle size		
http://purl.obolibrary.org/obo/HP_0030305	Decreased number of vertebrae	http://purl.obolibrary.org/obo/HP_0030304	Abnormal number of vertebrae		
http://purl.obolibrary.org/obo/HP_0003994	Dislocated wrist	http://purl.obolibrary.org/obo/HP_0025799	Abnormal wrist physiology		
http://purl.obolibrary.org/obo/HP_0004976	Knee dislocation	http://purl.obolibrary.org/obo/HP_0034670	Abnormal knee physiology		
http://purl.obolibrary.org/obo/HP_0001627	Abnormal heart morphology	http://purl.obolibrary.org/obo/HP_0030680	Abnormal cardiovascular system morphology		
http://purl.obolibrary.org/obo/HP_0000277	Abnormal mandible morphology	http://purl.obolibrary.org/obo/HP_0030791	Abnormal jaw morphology		
http://purl.obolibrary.org/obo/HP_0000326	Abnormal maxilla morphology	http://purl.obolibrary.org/obo/HP_0030791	Abnormal jaw morphology		
http://purl.obolibrary.org/obo/HP_0000162	Glossoptosis	http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology		
http://purl.obolibrary.org/obo/HP_0010295	Aplasia/Hypoplasia of the tongue	http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology		
http://purl.obolibrary.org/obo/HP_0010297	Bifid tongue	http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology		
http://purl.obolibrary.org/obo/HP_0010808	Protruding tongue	http://purl.obolibrary.org/obo/HP_0030809	Abnormal tongue morphology		
http://purl.obolibrary.org/obo/HP_0004890	Elevated pulmonary artery pressure	http://purl.obolibrary.org/obo/HP_0030875	Abnormality of pulmonary circulation		
http://purl.obolibrary.org/obo/HP_0002579	Gastrointestinal dysmotility	http://purl.obolibrary.org/obo/HP_0030895	Abnormal gastrointestinal motility		
http://purl.obolibrary.org/obo/HP_0030896	Abnormal gastrointestinal transit time	http://purl.obolibrary.org/obo/HP_0030895	Abnormal gastrointestinal motility		
http://purl.obolibrary.org/obo/HP_0008887	Adipose tissue loss	http://purl.obolibrary.org/obo/HP_0040063	Decreased adipose tissue		
http://purl.obolibrary.org/obo/HP_0002814	Abnormality of the lower limb	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0002817	Abnormality of the upper limb	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_6000818	Transverse terminal limb defect	http://purl.obolibrary.org/obo/HP_0040064	Abnormality of limbs		
http://purl.obolibrary.org/obo/HP_0002823	Abnormal femur morphology	http://purl.obolibrary.org/obo/HP_0040069	Abnormal lower limb bone morphology		
http://purl.obolibrary.org/obo/HP_0003984	Posteriorly dislocated ulna	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		
http://purl.obolibrary.org/obo/HP_0003988	Long ulna	http://purl.obolibrary.org/obo/HP_0040071	Abnormal morphology of ulna		
http://purl.obolibrary.org/obo/HP_0002818	Abnormal morphology of the radius	http://purl.obolibrary.org/obo/HP_0040072	Abnormal forearm bone morphology		
http://purl.obolibrary.org/obo/HP_0003959	Deformed forearm bones	http://purl.obolibrary.org/obo/HP_0040072	Abnormal forearm bone morphology		
http://purl.obolibrary.org/obo/HP_0003964	Osteoporotic forearm bones	http://purl.obolibrary.org/obo/HP_0040072	Abnormal forearm bone morphology		
http://purl.obolibrary.org/obo/HP_0003971	Broad forearm bones	http://purl.obolibrary.org/obo/HP_0040072	Abnormal forearm bone morphology		
http://purl.obolibrary.org/obo/HP_0000830	Anterior hypopituitarism	http://purl.obolibrary.org/obo/HP_0040075	Hypopituitarism		
http://purl.obolibrary.org/obo/HP_0003351	Decreased circulating renin concentration	http://purl.obolibrary.org/obo/HP_0040084	Abnormal circulating renin concentration		
http://purl.obolibrary.org/obo/HP_0003215	Dicarboxylic aciduria	http://purl.obolibrary.org/obo/HP_0040156	Elevated urinary carboxylic acid		
http://purl.obolibrary.org/obo/HP_0003275	Narrow pelvis bone	http://purl.obolibrary.org/obo/HP_0040163	Abnormal pelvis bone morphology		
http://purl.obolibrary.org/obo/HP_0010453	Pelvic bone asymmetry	http://purl.obolibrary.org/obo/HP_0040163	Abnormal pelvis bone morphology		
http://purl.obolibrary.org/obo/HP_0010779	Large pelvis bone	http://purl.obolibrary.org/obo/HP_0040163	Abnormal pelvis bone morphology		
http://purl.obolibrary.org/obo/HP_0000256	Macrocephaly	http://purl.obolibrary.org/obo/HP_0040194	Increased head circumference		
http://purl.obolibrary.org/obo/HP_0000053	Macroorchidism	http://purl.obolibrary.org/obo/HP_0045058	Abnormality of the testis size		
http://purl.obolibrary.org/obo/HP_0010468	Aplasia/Hypoplasia of the testes	http://purl.obolibrary.org/obo/HP_0045058	Abnormality of the testis size		
http://purl.obolibrary.org/obo/HP_0002270	Abnormality of the autonomic nervous system	http://purl.obolibrary.org/obo/HP_0410008	Abnormality of the peripheral nervous system		
http://purl.obolibrary.org/obo/HP_0410009	Abnormality of the somatic nervous system	http://purl.obolibrary.org/obo/HP_0410008	Abnormality of the peripheral nervous system		
http://purl.obolibrary.org/obo/NBO_0000121	agonistic behavior	http://purl.obolibrary.org/obo/NBO_0000003	emotional behavior		
http://purl.obolibrary.org/obo/NBO_0000612	communication behavior	http://purl.obolibrary.org/obo/NBO_0000011	social behavior		
http://purl.obolibrary.org/obo/NBO_0000741	aggressive behavior by means	http://purl.obolibrary.org/obo/NBO_0000015	aggressive behavior		
http://purl.obolibrary.org/obo/NBO_0000233	motivation behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		
http://purl.obolibrary.org/obo/NBO_0000003	emotional behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		
http://purl.obolibrary.org/obo/NBO_0000008	rhythmic behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		
http://purl.obolibrary.org/obo/NBO_0000119	impulsive behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		
http://purl.obolibrary.org/obo/NBO_0000607	cognitive behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		
http://purl.obolibrary.org/obo/NBO_0001845	consumption behavior	http://purl.obolibrary.org/obo/NBO_0000313	behavior process		
http://purl.obolibrary.org/obo/NCBITaxon_9622	Lycaon pictus	http://purl.obolibrary.org/obo/NCBITaxon_9621	Lycaon		
http://purl.obolibrary.org/obo/NCBITaxon_9646	Ailuropoda melanoleuca	http://purl.obolibrary.org/obo/NCBITaxon_9645	Ailuropoda		
http://purl.obolibrary.org/obo/NCBITaxon_9649	Ailurus fulgens	http://purl.obolibrary.org/obo/NCBITaxon_9648	Ailurus		
http://purl.obolibrary.org/obo/NCBITaxon_9669	Mustela putorius furo	http://purl.obolibrary.org/obo/NCBITaxon_9668	Mustela putorius		
http://purl.obolibrary.org/obo/NCBITaxon_9733	Orcinus orca	http://purl.obolibrary.org/obo/NCBITaxon_9732	Orcinus		
http://purl.obolibrary.org/obo/NCBITaxon_9773	Megaptera novaeangliae	http://purl.obolibrary.org/obo/NCBITaxon_9772	Megaptera		
http://purl.obolibrary.org/obo/NCBITaxon_9807	Ceratotherium simum	http://purl.obolibrary.org/obo/NCBITaxon_9806	Ceratotherium		
http://purl.obolibrary.org/obo/NCBITaxon_9840	Lama guanicoe	http://purl.obolibrary.org/obo/NCBITaxon_9839	Lama		
http://purl.obolibrary.org/obo/NCBITaxon_9844	Lama glama	http://purl.obolibrary.org/obo/NCBITaxon_9839	Lama		
http://purl.obolibrary.org/obo/SO_0000055	hyperploid	http://purl.obolibrary.org/obo/SO_0000054	aneuploid		
http://purl.obolibrary.org/obo/SO_0000056	hypoploid	http://purl.obolibrary.org/obo/SO_0000054	aneuploid		
http://purl.obolibrary.org/obo/SO_0001504	assortment_derived_variation	http://purl.obolibrary.org/obo/SO_0000240	chromosome_variation		
http://purl.obolibrary.org/obo/SO_1000182	chromosome_number_variation	http://purl.obolibrary.org/obo/SO_0000240	chromosome_variation		
http://purl.obolibrary.org/obo/SO_0000946	integration_excision_site	http://purl.obolibrary.org/obo/SO_0000342	site_specific_recombination_target_region		
http://purl.obolibrary.org/obo/SO_0000988	circular	http://purl.obolibrary.org/obo/SO_0000986	topology_attribute		
http://purl.obolibrary.org/obo/SO_0000803	assortment_derived_aneuploid	http://purl.obolibrary.org/obo/SO_0001504	assortment_derived_variation		
http://purl.obolibrary.org/obo/SO_0002122	immunoglobulin_gene	http://purl.obolibrary.org/obo/SO_0002121	vertebrate_immune_system_gene		
http://purl.obolibrary.org/obo/SO_1000029	chromosomal_deletion	http://purl.obolibrary.org/obo/SO_1000028	intrachromosomal_mutation		
http://purl.obolibrary.org/obo/SO_1000030	chromosomal_inversion	http://purl.obolibrary.org/obo/SO_1000028	intrachromosomal_mutation		
http://purl.obolibrary.org/obo/SO_1000045	ring_chromosome	http://purl.obolibrary.org/obo/SO_1000028	intrachromosomal_mutation		
http://purl.obolibrary.org/obo/SO_0000054	aneuploid	http://purl.obolibrary.org/obo/SO_1000182	chromosome_number_variation		
http://purl.obolibrary.org/obo/SO_0001254	polyploid	http://purl.obolibrary.org/obo/SO_1000182	chromosome_number_variation		
http://purl.obolibrary.org/obo/SO_0000453	chromosomal_transposition	http://purl.obolibrary.org/obo/SO_1000183	chromosome_structure_variation		
http://purl.obolibrary.org/obo/SO_1000028	intrachromosomal_mutation	http://purl.obolibrary.org/obo/SO_1000183	chromosome_structure_variation		
http://purl.obolibrary.org/obo/SO_1000037	chromosomal_duplication	http://purl.obolibrary.org/obo/SO_1000183	chromosome_structure_variation		
http://purl.obolibrary.org/obo/ENVO_01000703	hydrological precipitation process	http://purl.obolibrary.org/obo/ENVO_01000875	precipitation process		
http://purl.obolibrary.org/obo/ENVO_03400004	heavy snowfall	http://purl.obolibrary.org/obo/ENVO_01000895	snowfall		
http://purl.obolibrary.org/obo/NCBITaxon_337687	Muroidea	http://purl.obolibrary.org/obo/NCBITaxon_1963758	Myomorpha		
http://purl.obolibrary.org/obo/UBERON_0006056	posterior surface of head	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0006677	surface of epithelium	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0007367	surface of tongue	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0008115	surface of cartilage	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0011342	surface of mandible	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0016566	pit	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0017659	ventral surface of penis	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0022288	surface of eyeball	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/UBERON_0034928	dorsal surface of penis	http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region		
http://purl.obolibrary.org/obo/HP_0000771	Gynecomastia	http://purl.obolibrary.org/obo/HP_0031093	Abnormal breast morphology		
http://purl.obolibrary.org/obo/HP_0004404	Abnormal nipple morphology	http://purl.obolibrary.org/obo/HP_0031093	Abnormal breast morphology		
http://purl.obolibrary.org/obo/HP_0010311	Aplasia/Hypoplasia of the breasts	http://purl.obolibrary.org/obo/HP_0031093	Abnormal breast morphology		
http://purl.obolibrary.org/obo/HP_0010312	Asymmetry of the breasts	http://purl.obolibrary.org/obo/HP_0031093	Abnormal breast morphology		
http://purl.obolibrary.org/obo/HP_0010313	Breast hypertrophy	http://purl.obolibrary.org/obo/HP_0031093	Abnormal breast morphology		
http://purl.obolibrary.org/obo/NCIT_C19160	Occupation or Discipline	http://purl.obolibrary.org/obo/NCIT_C20181	Conceptual Entity		
http://purl.obolibrary.org/obo/NCIT_C12378	Digestive System	http://purl.obolibrary.org/obo/NCIT_C12919	Organ System		
http://purl.obolibrary.org/obo/NCIT_C18264	Pathogenesis	http://purl.obolibrary.org/obo/NCIT_C16956	Pathologic Process		
http://purl.obolibrary.org/obo/NCIT_C165233	Expression Negative	http://purl.obolibrary.org/obo/NCIT_C35681	Negative Test Result		
http://purl.obolibrary.org/obo/HP_0003679	Pace of progression	http://purl.obolibrary.org/obo/HP_0031797	Clinical course		
http://purl.obolibrary.org/obo/HP_0011008	Temporal pattern	http://purl.obolibrary.org/obo/HP_0031797	Clinical course		
http://purl.obolibrary.org/obo/HP_0003674	Onset	http://purl.obolibrary.org/obo/HP_0031797	Clinical course		
http://purl.obolibrary.org/obo/NCBITaxon_8835	Anas	http://purl.obolibrary.org/obo/NCBITaxon_2068716	Anatinae		
http://purl.obolibrary.org/obo/NCBITaxon_6246	Strongyloididae	http://purl.obolibrary.org/obo/NCBITaxon_2082224	Strongyloidoidea		
http://purl.obolibrary.org/obo/NCBITaxon_73421	Dicrocoeliidae	http://purl.obolibrary.org/obo/NCBITaxon_1776223	Gorgoderoidea		
http://purl.obolibrary.org/obo/NCBITaxon_60516	Dibothriocephalus latus	http://purl.obolibrary.org/obo/NCBITaxon_2267273	Dibothriocephalus		
http://purl.obolibrary.org/obo/HP_0032632	Renal papillary necrosis	http://purl.obolibrary.org/obo/HP_0032618	Renal necrosis		
http://purl.obolibrary.org/obo/CL_0002351	progenitor cell of endocrine pancreas	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0007009	prechondroblast	http://purl.obolibrary.org/obo/CL_0011026	progenitor cell		
http://purl.obolibrary.org/obo/CL_0002539	aortic smooth muscle cell	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002589	smooth muscle cell of the brachiocephalic vasculature	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002591	smooth muscle cell of the pulmonary artery	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002594	smooth muscle cell of the umbilical artery	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002595	smooth muscle cell of the subclavian artery	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002596	smooth muscle cell of the carotid artery	http://purl.obolibrary.org/obo/CL_0019018	blood vessel smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002598	bronchial smooth muscle cell	http://purl.obolibrary.org/obo/CL_0019019	tracheobronchial smooth muscle cell		
http://purl.obolibrary.org/obo/CL_0002600	smooth muscle cell of trachea	http://purl.obolibrary.org/obo/CL_0019019	tracheobronchial smooth muscle cell		
http://purl.obolibrary.org/obo/CL_4033017	bronchiolar smooth muscle cell	http://purl.obolibrary.org/obo/CL_0019019	tracheobronchial smooth muscle cell		
http://purl.obolibrary.org/obo/MONDO_0007166	ataxia with fasciculations	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		
http://purl.obolibrary.org/obo/MONDO_0010095	ataxia-tapetoretinal degeneration syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		
http://purl.obolibrary.org/obo/MONDO_0017845	spastic ataxia	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		
http://purl.obolibrary.org/obo/MONDO_0957442	autosomal recessive ataxia due to PEX16 deficiency	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		
http://purl.obolibrary.org/obo/MONDO_0957443	autosomal recessive ataxia due to PEX2 deficiency	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		
http://purl.obolibrary.org/obo/MONDO_0014523	juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	http://purl.obolibrary.org/obo/MONDO_0100309	hereditary ataxia		
http://purl.obolibrary.org/obo/PATO_0070002	basket cell morphology	http://purl.obolibrary.org/obo/PATO_0070026	multipolar neuron morphology		
http://purl.obolibrary.org/obo/PATO_0070010	stellate morphology	http://purl.obolibrary.org/obo/PATO_0070026	multipolar neuron morphology		
http://purl.obolibrary.org/obo/NCBITaxon_452646	Neogale vison	http://purl.obolibrary.org/obo/NCBITaxon_2902005	Neogale		
http://purl.obolibrary.org/obo/MONDO_0010566	X-linked cone-rod dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0021155	X-linked cone-rod dystrophy		
http://purl.obolibrary.org/obo/MONDO_0013040	atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	http://purl.obolibrary.org/obo/MONDO_0035290	atypical hemolytic uremic syndrome with complement gene abnormality		
http://purl.obolibrary.org/obo/MONDO_0013041	atypical hemolytic-uremic syndrome with I factor anomaly	http://purl.obolibrary.org/obo/MONDO_0035290	atypical hemolytic uremic syndrome with complement gene abnormality		
http://purl.obolibrary.org/obo/MONDO_0013042	atypical hemolytic-uremic syndrome with B factor anomaly	http://purl.obolibrary.org/obo/MONDO_0035290	atypical hemolytic uremic syndrome with complement gene abnormality		
http://purl.obolibrary.org/obo/MONDO_0013043	atypical hemolytic-uremic syndrome with C3 anomaly	http://purl.obolibrary.org/obo/MONDO_0035290	atypical hemolytic uremic syndrome with complement gene abnormality		
http://purl.obolibrary.org/obo/MONDO_0013044	atypical hemolytic-uremic syndrome with thrombomodulin anomaly	http://purl.obolibrary.org/obo/MONDO_0035290	atypical hemolytic uremic syndrome with complement gene abnormality		
http://purl.obolibrary.org/obo/HP_5200230	Maladaptive fear-related cognitions	http://purl.obolibrary.org/obo/HP_5200401	Abnormal judgment		
http://purl.obolibrary.org/obo/MONDO_0958356	primary central precocious puberty in male	http://purl.obolibrary.org/obo/MONDO_0958270	central precocious puberty in male		
http://purl.obolibrary.org/obo/MONDO_0958357	secondary central precocious puberty in male	http://purl.obolibrary.org/obo/MONDO_0958270	central precocious puberty in male		
http://purl.obolibrary.org/obo/MONDO_0012793	hypouricemia, renal, 2	http://purl.obolibrary.org/obo/MONDO_0968951	hypouricemia, renal		
http://purl.obolibrary.org/obo/MONDO_0020728	hypouricemia, renal 1	http://purl.obolibrary.org/obo/MONDO_0968951	hypouricemia, renal		
http://purl.obolibrary.org/obo/MONDO_0968990	genetic central precocious puberty in male	http://purl.obolibrary.org/obo/MONDO_0958356	primary central precocious puberty in male		
http://purl.obolibrary.org/obo/MONDO_0968991	non-genetic central precocious puberty in male	http://purl.obolibrary.org/obo/MONDO_0958356	primary central precocious puberty in male		
http://purl.obolibrary.org/obo/MONDO_0032717	amelogenesis imperfecta, type 3C	http://purl.obolibrary.org/obo/MONDO_0968955	hypocalcified amelogenesis imperfecta		
http://purl.obolibrary.org/obo/CHEBI_47882	cyclic polypyrrole	http://purl.obolibrary.org/obo/CHEBI_38077	polypyrrole		
http://purl.obolibrary.org/obo/CHEBI_30848	urate(1-)	http://purl.obolibrary.org/obo/CHEBI_46818	urate anion		
http://purl.obolibrary.org/obo/CHEBI_35136	iron protein	http://purl.obolibrary.org/obo/CHEBI_35134	metalloprotein		
http://purl.obolibrary.org/obo/CHEBI_35571	mancude organic heterocyclic parent	http://purl.obolibrary.org/obo/CHEBI_35573	organic mancude parent		
http://purl.obolibrary.org/obo/CHEBI_36388	saturated organic heterocyclic parent	http://purl.obolibrary.org/obo/CHEBI_35552	heterocyclic organic fundamental parent		
http://purl.obolibrary.org/obo/CHEBI_36828	pseudohalide anion	http://purl.obolibrary.org/obo/CHEBI_36829	polyatomic monoanion		
http://purl.obolibrary.org/obo/NCBITaxon_10028	Cricetulus	http://purl.obolibrary.org/obo/NCBITaxon_10026	Cricetinae		
http://purl.obolibrary.org/obo/NCBITaxon_2902005	Neogale	http://purl.obolibrary.org/obo/NCBITaxon_169418	Mustelinae		
http://purl.obolibrary.org/obo/NCBITaxon_9665	Mustela	http://purl.obolibrary.org/obo/NCBITaxon_169418	Mustelinae		
http://purl.obolibrary.org/obo/NCBITaxon_8843	Anser anser	http://purl.obolibrary.org/obo/NCBITaxon_8842	Anser		
http://purl.obolibrary.org/obo/NCBITaxon_9888	Muntiacus muntjak	http://purl.obolibrary.org/obo/NCBITaxon_9885	Muntiacus		
http://purl.obolibrary.org/obo/NCBITaxon_9940	Ovis aries	http://purl.obolibrary.org/obo/NCBITaxon_9935	Ovis		
http://purl.obolibrary.org/obo/NCBITaxon_37174	Ovis canadensis	http://purl.obolibrary.org/obo/NCBITaxon_9935	Ovis		
http://purl.obolibrary.org/obo/SO_0000483	nc_primary_transcript	http://purl.obolibrary.org/obo/SO_0000185	primary_transcript		
http://purl.obolibrary.org/obo/SO_0000655	ncRNA	http://purl.obolibrary.org/obo/SO_0000233	mature_transcript		
http://purl.obolibrary.org/obo/SO_0000733	feature_attribute	http://purl.obolibrary.org/obo/SO_0000400	sequence_attribute		
http://purl.obolibrary.org/obo/SO_0000443	polymer_attribute	http://purl.obolibrary.org/obo/SO_0000400	sequence_attribute		
http://purl.obolibrary.org/obo/SO_0000209	rRNA_primary_transcript	http://purl.obolibrary.org/obo/SO_0000483	nc_primary_transcript		
http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration	http://purl.obolibrary.org/obo/SO_0002072	sequence_comparison		
http://purl.obolibrary.org/obo/NCBITaxon_11135	Feline infectious peritonitis virus	http://purl.obolibrary.org/obo/NCBITaxon_12663	Feline coronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_5552	Trichosporon	http://purl.obolibrary.org/obo/NCBITaxon_1759442	Trichosporonaceae		
http://purl.obolibrary.org/obo/NCBITaxon_189359	Xylariales incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_37989	Xylariales		
http://purl.obolibrary.org/obo/NCBITaxon_32594	Babesiidae	http://purl.obolibrary.org/obo/NCBITaxon_5863	Piroplasmida		
http://purl.obolibrary.org/obo/NCBITaxon_8296	Ambystoma mexicanum	http://purl.obolibrary.org/obo/NCBITaxon_8295	Ambystoma		
http://purl.obolibrary.org/obo/NCBITaxon_53436	Treponema pallidum subsp. endemicum	http://purl.obolibrary.org/obo/NCBITaxon_160	Treponema pallidum		
http://purl.obolibrary.org/obo/NCBITaxon_168	Treponema pallidum subsp. pertenue	http://purl.obolibrary.org/obo/NCBITaxon_160	Treponema pallidum		
http://purl.obolibrary.org/obo/NCBITaxon_156757	Buteo swainsoni	http://purl.obolibrary.org/obo/NCBITaxon_30396	Buteo		
http://purl.obolibrary.org/obo/NCBITaxon_2701	Gardnerella	http://purl.obolibrary.org/obo/NCBITaxon_31953	Bifidobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_6182	Schistosoma japonicum	http://purl.obolibrary.org/obo/NCBITaxon_6181	Schistosoma		
http://purl.obolibrary.org/obo/NCBITaxon_6187	Schistosoma intercalatum	http://purl.obolibrary.org/obo/NCBITaxon_6181	Schistosoma		
http://purl.obolibrary.org/obo/NCBITaxon_6183	Schistosoma mansoni	http://purl.obolibrary.org/obo/NCBITaxon_6181	Schistosoma		
http://purl.obolibrary.org/obo/NCBITaxon_115425	Cochliomyia hominivorax	http://purl.obolibrary.org/obo/NCBITaxon_66360	Cochliomyia		
http://purl.obolibrary.org/obo/NCBITaxon_57077	Dicrocoelium	http://purl.obolibrary.org/obo/NCBITaxon_73421	Dicrocoeliidae		
http://purl.obolibrary.org/obo/NCBITaxon_8932	Columba livia	http://purl.obolibrary.org/obo/NCBITaxon_8931	Columba		
http://purl.obolibrary.org/obo/NCBITaxon_176042	Nestor	http://purl.obolibrary.org/obo/NCBITaxon_9224	Psittacidae		
http://purl.obolibrary.org/obo/NCBITaxon_12929	Amazona	http://purl.obolibrary.org/obo/NCBITaxon_9224	Psittacidae		
http://purl.obolibrary.org/obo/NCBITaxon_77151	Mustela nigripes	http://purl.obolibrary.org/obo/NCBITaxon_9665	Mustela		
http://purl.obolibrary.org/obo/NCBITaxon_9668	Mustela putorius	http://purl.obolibrary.org/obo/NCBITaxon_9665	Mustela		
http://purl.obolibrary.org/obo/NCBITaxon_151758	Amazona amazonica	http://purl.obolibrary.org/obo/NCBITaxon_12929	Amazona		
http://purl.obolibrary.org/obo/NCBITaxon_151761	Amazona ochrocephala	http://purl.obolibrary.org/obo/NCBITaxon_12929	Amazona		
http://purl.obolibrary.org/obo/NCBITaxon_71583	Balantidiidae	http://purl.obolibrary.org/obo/NCBITaxon_33833	Vestibuliferida		
http://purl.obolibrary.org/obo/NCBITaxon_13179	Nymphicus	http://purl.obolibrary.org/obo/NCBITaxon_35549	Cacatuidae		
http://purl.obolibrary.org/obo/NCBITaxon_6318	Trichostrongylus	http://purl.obolibrary.org/obo/NCBITaxon_6315	Trichostrongylidae		
http://purl.obolibrary.org/obo/NCBITaxon_482538	Cystoisospora belli	http://purl.obolibrary.org/obo/NCBITaxon_242060	Cystoisospora		
http://purl.obolibrary.org/obo/NCBITaxon_31244	Schistosomatoidea	http://purl.obolibrary.org/obo/NCBITaxon_6180	Strigeidida		
http://purl.obolibrary.org/obo/NCBITaxon_1532884	Sapajus	http://purl.obolibrary.org/obo/NCBITaxon_38070	Cebinae		
http://purl.obolibrary.org/obo/NCBITaxon_3052189	Erythroparvovirus primate1	http://purl.obolibrary.org/obo/NCBITaxon_40121	Erythroparvovirus		
http://purl.obolibrary.org/obo/NCBITaxon_1538075	Malasseziomycetes	http://purl.obolibrary.org/obo/NCBITaxon_452284	Ustilaginomycotina		
http://purl.obolibrary.org/obo/NCBITaxon_742845	Malasseziaceae	http://purl.obolibrary.org/obo/NCBITaxon_162474	Malasseziales		
http://purl.obolibrary.org/obo/NCBITaxon_9703	Zalophus	http://purl.obolibrary.org/obo/NCBITaxon_9702	Otariidae		
http://purl.obolibrary.org/obo/NCBITaxon_1759442	Trichosporonaceae	http://purl.obolibrary.org/obo/NCBITaxon_1851469	Trichosporonales		
http://purl.obolibrary.org/obo/NCBITaxon_319095	African cichlids	http://purl.obolibrary.org/obo/NCBITaxon_8113	Cichlidae		
http://purl.obolibrary.org/obo/NCBITaxon_5206	Cryptococcus <basidiomycete fungi>	http://purl.obolibrary.org/obo/NCBITaxon_1884633	Cryptococcaceae		
http://purl.obolibrary.org/obo/NCBITaxon_552467	Cryptococcus bacillisporus	http://purl.obolibrary.org/obo/NCBITaxon_1884637	Cryptococcus gattii species complex		
http://purl.obolibrary.org/obo/NCBITaxon_188544	Demodex	http://purl.obolibrary.org/obo/NCBITaxon_188543	Demodicidae		
http://purl.obolibrary.org/obo/NCBITaxon_188543	Demodicidae	http://purl.obolibrary.org/obo/NCBITaxon_188547	Cheyletoidea		
http://purl.obolibrary.org/obo/NCBITaxon_2085	Mycoplasmatales	http://purl.obolibrary.org/obo/NCBITaxon_31969	Mollicutes		
http://purl.obolibrary.org/obo/NCBITaxon_55824	Hirudinea	http://purl.obolibrary.org/obo/NCBITaxon_42113	Clitellata		
http://purl.obolibrary.org/obo/NCBITaxon_186622	Acipenseroidei	http://purl.obolibrary.org/obo/NCBITaxon_7899	Acipenseriformes		
http://purl.obolibrary.org/obo/NCBITaxon_188550	Raphignathae	http://purl.obolibrary.org/obo/NCBITaxon_83145	Eleutherengona		
http://purl.obolibrary.org/obo/NCBITaxon_31953	Bifidobacteriaceae	http://purl.obolibrary.org/obo/NCBITaxon_85004	Bifidobacteriales		
http://purl.obolibrary.org/obo/NCBITaxon_8930	Columbidae	http://purl.obolibrary.org/obo/NCBITaxon_8929	Columbiformes		
http://purl.obolibrary.org/obo/NCBITaxon_30538	Vicugna pacos	http://purl.obolibrary.org/obo/NCBITaxon_30539	Vicugna		
http://purl.obolibrary.org/obo/NCBITaxon_30588	Leontopithecus rosalia	http://purl.obolibrary.org/obo/NCBITaxon_30587	Leontopithecus		
http://purl.obolibrary.org/obo/NCBITaxon_9518	Lagothrix	http://purl.obolibrary.org/obo/NCBITaxon_38068	Atelinae		
http://purl.obolibrary.org/obo/NCBITaxon_31285	Trypanosoma brucei gambiense	http://purl.obolibrary.org/obo/NCBITaxon_5691	Trypanosoma brucei		
http://purl.obolibrary.org/obo/NCBITaxon_31286	Trypanosoma brucei rhodesiense	http://purl.obolibrary.org/obo/NCBITaxon_5691	Trypanosoma brucei		
http://purl.obolibrary.org/obo/NCBITaxon_30587	Leontopithecus	http://purl.obolibrary.org/obo/NCBITaxon_9480	Callitrichinae		
http://purl.obolibrary.org/obo/NCBITaxon_9481	Callithrix <genus>	http://purl.obolibrary.org/obo/NCBITaxon_9480	Callitrichinae		
http://purl.obolibrary.org/obo/NCBITaxon_481883	Eublepharis macularius	http://purl.obolibrary.org/obo/NCBITaxon_96736	Eublepharis		
http://purl.obolibrary.org/obo/NCBITaxon_5478	Nakaseomyces glabratus	http://purl.obolibrary.org/obo/NCBITaxon_374468	Nakaseomyces		
http://purl.obolibrary.org/obo/NCBITaxon_9648	Ailurus	http://purl.obolibrary.org/obo/NCBITaxon_379582	Ailuridae		
http://purl.obolibrary.org/obo/NCBITaxon_96736	Eublepharis	http://purl.obolibrary.org/obo/NCBITaxon_385255	Eublepharinae		
http://purl.obolibrary.org/obo/NCBITaxon_51025	Oxyuroidea	http://purl.obolibrary.org/obo/NCBITaxon_70426	Oxyuridomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_9858	Capreolus capreolus	http://purl.obolibrary.org/obo/NCBITaxon_9857	Capreolus		
http://purl.obolibrary.org/obo/NCBITaxon_8955	Accipitrinae	http://purl.obolibrary.org/obo/NCBITaxon_56259	Accipitridae		
http://purl.obolibrary.org/obo/NCBITaxon_55193	Malassezia	http://purl.obolibrary.org/obo/NCBITaxon_742845	Malasseziaceae		
http://purl.obolibrary.org/obo/NCBITaxon_6951	Astigmata	http://purl.obolibrary.org/obo/NCBITaxon_83137	Sarcoptiformes		
http://purl.obolibrary.org/obo/NCBITaxon_68728	Chrysocyon brachyurus	http://purl.obolibrary.org/obo/NCBITaxon_68727	Chrysocyon		
http://purl.obolibrary.org/obo/NCBITaxon_2509487	Igacovirus	http://purl.obolibrary.org/obo/NCBITaxon_694013	Gammacoronavirus		
http://purl.obolibrary.org/obo/NCBITaxon_8295	Ambystoma	http://purl.obolibrary.org/obo/NCBITaxon_8294	Ambystomatidae		
http://purl.obolibrary.org/obo/NCBITaxon_8784	Casuariiformes	http://purl.obolibrary.org/obo/NCBITaxon_8783	Palaeognathae		
http://purl.obolibrary.org/obo/NCBITaxon_8798	Struthioniformes	http://purl.obolibrary.org/obo/NCBITaxon_8783	Palaeognathae		
http://purl.obolibrary.org/obo/NCBITaxon_8788	Dromaiidae	http://purl.obolibrary.org/obo/NCBITaxon_8784	Casuariiformes		
http://purl.obolibrary.org/obo/NCBITaxon_8800	Struthio	http://purl.obolibrary.org/obo/NCBITaxon_8799	Struthionidae		
http://purl.obolibrary.org/obo/NCBITaxon_8801	Struthio camelus	http://purl.obolibrary.org/obo/NCBITaxon_8800	Struthio		
http://purl.obolibrary.org/obo/GO_0005929	cilium	http://purl.obolibrary.org/obo/GO_0043227	membrane-bounded organelle		
http://purl.obolibrary.org/obo/GO_0043005	neuron projection	http://purl.obolibrary.org/obo/GO_0120025	plasma membrane bounded cell projection		
http://purl.obolibrary.org/obo/GO_0098858	actin-based cell projection	http://purl.obolibrary.org/obo/GO_0120025	plasma membrane bounded cell projection		
http://purl.obolibrary.org/obo/GO_0036194	muscle cell projection	http://purl.obolibrary.org/obo/GO_0120025	plasma membrane bounded cell projection		
http://purl.obolibrary.org/obo/NCBITaxon_122277	Pectobacterium	http://purl.obolibrary.org/obo/NCBITaxon_1903410	Pectobacteriaceae		
http://purl.obolibrary.org/obo/NCBITaxon_629	Yersinia <enterobacteria>	http://purl.obolibrary.org/obo/NCBITaxon_1903411	Yersiniaceae		
http://purl.obolibrary.org/obo/NCBITaxon_160148	Troctomorpha	http://purl.obolibrary.org/obo/NCBITaxon_1930602	Psocodea		
http://purl.obolibrary.org/obo/NCBITaxon_2560074	Mammantavirinae	http://purl.obolibrary.org/obo/NCBITaxon_1980413	Hantaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1980517	Orthonairovirus	http://purl.obolibrary.org/obo/NCBITaxon_1980415	Nairoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1980456	Orthohantavirus andesense	http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus		
http://purl.obolibrary.org/obo/NCIT_C36862	Neoplastic Melanocyte	http://purl.obolibrary.org/obo/NCIT_C12922	Neoplastic Cell		
http://purl.obolibrary.org/obo/NCIT_C36887	Neoplastic Connective and Soft Tissue Cell	http://purl.obolibrary.org/obo/NCIT_C36843	Abnormal Connective and Soft Tissue Cell		
http://purl.obolibrary.org/obo/NCIT_C36753	Neoplastic Epithelial Cell	http://purl.obolibrary.org/obo/NCIT_C36745	Abnormal Epithelial Cell		
http://purl.obolibrary.org/obo/NCIT_C36823	Neoplastic Spindle Cell	http://purl.obolibrary.org/obo/NCIT_C12922	Neoplastic Cell		
http://purl.obolibrary.org/obo/NCIT_C37109	Malignant Epithelial Spindle Cell	http://purl.obolibrary.org/obo/NCIT_C53637	Malignant Spindle Cell		
http://purl.obolibrary.org/obo/GO_0062013	positive regulation of small molecule metabolic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0062014	negative regulation of small molecule metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0030656	regulation of vitamin metabolic process	http://purl.obolibrary.org/obo/GO_0062012	regulation of small molecule metabolic process		
http://purl.obolibrary.org/obo/GO_1900419	regulation of alcohol catabolic process	http://purl.obolibrary.org/obo/GO_0009894	regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_1901715	regulation of GABA catabolic process	http://purl.obolibrary.org/obo/GO_0009894	regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_1902930	regulation of alcohol biosynthetic process	http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process		
http://purl.obolibrary.org/obo/MONDO_0018001	inverse Klippel-Trenaunay syndrome	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		
http://purl.obolibrary.org/obo/MONDO_0971115	benign vascular tumor	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		
http://purl.obolibrary.org/obo/MONDO_0971116	borderline vascular tumor	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		
http://purl.obolibrary.org/obo/MONDO_0975752	littoral cell hemangioma of the spleen	http://purl.obolibrary.org/obo/MONDO_0024296	vascular neoplasm		
http://purl.obolibrary.org/obo/MONDO_0859271	glycosylphosphatidylinositol biosynthesis defect 25	http://purl.obolibrary.org/obo/MONDO_0024321	disorder of GPI anchor biosynthesis		
http://purl.obolibrary.org/obo/HP_0000163	Abnormal oral cavity morphology	http://purl.obolibrary.org/obo/HP_0031816	Abnormal oral morphology		
http://purl.obolibrary.org/obo/HP_0000201	Pierre-Robin sequence	http://purl.obolibrary.org/obo/HP_0031816	Abnormal oral morphology		
http://purl.obolibrary.org/obo/HP_0001315	Reduced tendon reflexes	http://purl.obolibrary.org/obo/HP_0031826	Abnormal reflex		
http://purl.obolibrary.org/obo/HP_0001347	Hyperreflexia	http://purl.obolibrary.org/obo/HP_0031826	Abnormal reflex		
http://purl.obolibrary.org/obo/HP_0003225	Reduced coagulation factor V activity	http://purl.obolibrary.org/obo/HP_0031899	Abnormal coagulation factor V activity		
http://purl.obolibrary.org/obo/HP_0011996	Elevated coagulation factor V activity	http://purl.obolibrary.org/obo/HP_0031899	Abnormal coagulation factor V activity		
http://purl.obolibrary.org/obo/GO_0120189	positive regulation of bile acid secretion	http://purl.obolibrary.org/obo/GO_0032892	positive regulation of organic acid transport		
http://purl.obolibrary.org/obo/GO_0120190	negative regulation of bile acid secretion	http://purl.obolibrary.org/obo/GO_0032891	negative regulation of organic acid transport		
http://purl.obolibrary.org/obo/GO_0140237	translation at presynapse, modulating chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0140236	translation at presynapse		
http://purl.obolibrary.org/obo/GO_0140236	translation at presynapse	http://purl.obolibrary.org/obo/GO_0140241	translation at synapse		
http://purl.obolibrary.org/obo/GO_0140242	translation at postsynapse	http://purl.obolibrary.org/obo/GO_0140241	translation at synapse		
http://purl.obolibrary.org/obo/GO_0140245	regulation of translation at postsynapse	http://purl.obolibrary.org/obo/GO_0140243	regulation of translation at synapse		
http://purl.obolibrary.org/obo/GO_0099547	regulation of translation at synapse, modulating synaptic transmission	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0140244	regulation of translation at presynapse	http://purl.obolibrary.org/obo/GO_0140243	regulation of translation at synapse		
http://purl.obolibrary.org/obo/GO_0099578	regulation of translation at postsynapse, modulating synaptic transmission	http://purl.obolibrary.org/obo/GO_0099170	postsynaptic modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/UBERON_0007171	border of scapula	http://purl.obolibrary.org/obo/UBERON_0036304	anatomical border		
http://purl.obolibrary.org/obo/MONDO_0030077	vertebral, cardiac, renal, and limb defects syndrome 3	http://purl.obolibrary.org/obo/MONDO_0020831	congenital vertebral-cardiac-renal anomalies syndrome		
http://purl.obolibrary.org/obo/NCBITaxon_9721	Cetacea	http://purl.obolibrary.org/obo/NCBITaxon_2653789	Whippomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_10508	Adenoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732559	Rowavirales		
http://purl.obolibrary.org/obo/NCBITaxon_3052556	Orthorubulavirus hominis	http://purl.obolibrary.org/obo/NCBITaxon_2560195	Orthorubulavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052557	Orthorubulavirus laryngotracheitidis	http://purl.obolibrary.org/obo/NCBITaxon_2560195	Orthorubulavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052560	Orthorubulavirus parotitidis	http://purl.obolibrary.org/obo/NCBITaxon_2560195	Orthorubulavirus		
http://purl.obolibrary.org/obo/MONDO_0018737	catastrophic antiphospholipid syndrome	http://purl.obolibrary.org/obo/MONDO_8000010	antiphospholipid syndrome		
http://purl.obolibrary.org/obo/MONDO_0016851	maternal uniparental disomy of chromosome X	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0016852	paternal uniparental disomy of chromosome X	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0022180	chromosome 16 trisomy	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		
http://purl.obolibrary.org/obo/MONDO_0043085	chromosome 1, uniparental disomy 1q12 q21	http://purl.obolibrary.org/obo/MONDO_0700008	chromosome 1 disorder		
http://purl.obolibrary.org/obo/MONDO_0015706	mosaic trisomy 1	http://purl.obolibrary.org/obo/MONDO_0700065	trisomy		
http://purl.obolibrary.org/obo/MONDO_1011923	respiratory distress syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011924	brachycephalic airway obstruction syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011927	pulmonary adenomatosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011929	guttural pouch tympany, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011930	recurrent airway obstruction, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011931	upper airway syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011932	recurrent inflammatory pulmonary disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011933	pulmonary surfactant metabolism dysfunction, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011934	dynamic laryngeal collapse, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011935	growth and respiratory lethal syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700104	respiratory system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700111	bacterial pneumonia, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011828	cancer, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700098	neoplasm, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700099	adenocarcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0020764	Brown-Pearce carcinoma	http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011730	complement component 4 deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011731	multiple autoimmune diseases syndrome, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011732	autosomal T cell-negative, B cell-negative, NK cell-positive severe combined immunodeficiency disease with sensitivity to ionizing radiation, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770262	lymph node aplasia, sheep	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770472	PDCD1-related immune system disorder, pig	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770599	parvalbumin fish allergen, rainbow trout	http://purl.obolibrary.org/obo/MONDO_0700106	immune system disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0009747	mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	http://purl.obolibrary.org/obo/MONDO_0100512	mitochondrial DNA depletion syndrome, hepatocerebral form		
http://purl.obolibrary.org/obo/HP_0009101	Submucous cleft lip	http://purl.obolibrary.org/obo/HP_5201010	Microform cleft of the upper lip		
http://purl.obolibrary.org/obo/NCBITaxon_10293	Alphaherpesvirinae	http://purl.obolibrary.org/obo/NCBITaxon_3044472	Orthoherpesviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10357	Betaherpesvirinae	http://purl.obolibrary.org/obo/NCBITaxon_3044472	Orthoherpesviridae		
http://purl.obolibrary.org/obo/NCBITaxon_10374	Gammaherpesvirinae	http://purl.obolibrary.org/obo/NCBITaxon_3044472	Orthoherpesviridae		
http://purl.obolibrary.org/obo/MONDO_7770744	vestibular disease, goat	http://purl.obolibrary.org/obo/MONDO_1011414	vestibular disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770359	glycogen storage disease II, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011419	glycogen storage disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011764	ichthyosis fetalis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011427	ichthyosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012107	hyperkinesis, dog	http://purl.obolibrary.org/obo/MONDO_1011626	hyperkinesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012177	myoclonus epilepsy of Lafora, fennec fox	http://purl.obolibrary.org/obo/MONDO_1011627	myoclonus epilepsy of Lafora, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012178	myoclonus epilepsy of Lafora, NHLRC1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011627	myoclonus epilepsy of Lafora, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012179	myoclonus epilepsy of Lafora, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011627	myoclonus epilepsy of Lafora, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012180	myoclonus epilepsy of Lafora, Eurasian elk	http://purl.obolibrary.org/obo/MONDO_1011627	myoclonus epilepsy of Lafora, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012181	myoclonus epilepsy of Lafora, cattle	http://purl.obolibrary.org/obo/MONDO_1011627	myoclonus epilepsy of Lafora, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012206	paroxysm, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012233	quaking, golden hamster	http://purl.obolibrary.org/obo/MONDO_1011629	quaking, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012251	congenital lethal spasms, cattle	http://purl.obolibrary.org/obo/MONDO_1011630	congenital lethal spasms, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012261	stringhalt, horse	http://purl.obolibrary.org/obo/MONDO_1011631	stringhalt, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012262	stringhalt, cattle	http://purl.obolibrary.org/obo/MONDO_1011631	stringhalt, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012269	tetanic torticollar spasms, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012287	progressive ataxia, dog	http://purl.obolibrary.org/obo/MONDO_1011633	progressive ataxia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012288	progressive ataxia, pig	http://purl.obolibrary.org/obo/MONDO_1011633	progressive ataxia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012289	progressive ataxia, cattle	http://purl.obolibrary.org/obo/MONDO_1011633	progressive ataxia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012308	self-mutilation syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1011634	self-mutilation syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012344	familial convulsions and ataxia, CACNA1A-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011635	familial convulsions and ataxia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012411	compulsive disorder, dog	http://purl.obolibrary.org/obo/MONDO_1011636	compulsive disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012445	juvenile idiopathic epilepsy, horse	http://purl.obolibrary.org/obo/MONDO_1011637	juvenile idiopathic epilepsy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012476	attention deficit hyperactivity disorder, dog	http://purl.obolibrary.org/obo/MONDO_1011638	attention deficit hyperactivity disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012511	generalized myoclonic epilepsy with photosensitivity, DIRAS1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011639	generalized myoclonic epilepsy with photosensitivity, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012019	atrial septal defect and atrial fibrillation, horse	http://purl.obolibrary.org/obo/MONDO_1011640	atrial septal defect and atrial fibrillation, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012035	cardiomyopathy and woolly haircoat syndrome, PPP1R13L-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011641	cardiomyopathy and woolly haircoat syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012036	spontaneous cardiomyopathy, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012166	mitral valve disease, dog	http://purl.obolibrary.org/obo/MONDO_1011643	mitral valve disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012212	persistent right aortic arch, dog	http://purl.obolibrary.org/obo/MONDO_1011644	persistent right aortic arch, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012213	persistent right aortic arch, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011644	persistent right aortic arch, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012214	persistent right aortic arch, puma	http://purl.obolibrary.org/obo/MONDO_1011644	persistent right aortic arch, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012215	persistent right aortic arch, horse	http://purl.obolibrary.org/obo/MONDO_1011644	persistent right aortic arch, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012285	ventricular arrhythmias and sudden death, MICOS13-related, dog	http://purl.obolibrary.org/obo/MONDO_1011645	ventricular arrhythmias and sudden death, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012327	persistent truncus arteriosus with ventricular septal defect and patent foramen ovale, cattle	http://purl.obolibrary.org/obo/MONDO_1011646	persistent truncus arteriosus with ventricular septal defect and patent foramen ovale, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012340	chronic valvular disease, dog	http://purl.obolibrary.org/obo/MONDO_1011647	chronic valvular disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012381	familial thoracic aortic aneurysm, dog	http://purl.obolibrary.org/obo/MONDO_1011648	familial thoracic aortic aneurysm, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012417	persistent right aortic arch with subclavian artery and ligamentum arteriosum, dog	http://purl.obolibrary.org/obo/MONDO_1011649	persistent right aortic arch with subclavian artery and ligamentum arteriosum, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012468	pentalogy of Fallot, Amur tiger	http://purl.obolibrary.org/obo/MONDO_1011650	pentalogy of Fallot, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012469	pentalogy of Fallot, dog	http://purl.obolibrary.org/obo/MONDO_1011650	pentalogy of Fallot, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012470	pentalogy of Fallot, horse	http://purl.obolibrary.org/obo/MONDO_1011650	pentalogy of Fallot, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012471	pentalogy of Fallot, sheep	http://purl.obolibrary.org/obo/MONDO_1011650	pentalogy of Fallot, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012535	cardiomyopathy and juvenile mortality, YARS2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011651	cardiomyopathy and juvenile mortality, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012555	mitral valve dysplasia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011652	mitral valve dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012556	mitral valve dysplasia, ass	http://purl.obolibrary.org/obo/MONDO_1011652	mitral valve dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012557	mitral valve dysplasia, horse	http://purl.obolibrary.org/obo/MONDO_1011652	mitral valve dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012054	craniomandibular osteopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011653	craniomandibular osteopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012076	facial digital syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1011654	facial digital syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012444	polled and multisystemic syndrome, ZEB2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011655	polled and multisystemic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012510	facial dysplasia syndrome, FGFR2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011656	facial dysplasia syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012516	goldenhar syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011657	goldenhar syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012532	calvarial hyperostotic syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011658	calvarial hyperostotic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012533	calvarial hyperostotic syndrome, lion	http://purl.obolibrary.org/obo/MONDO_1011658	calvarial hyperostotic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012089	gastric dilatation volvulus syndrome, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1011659	gastric dilatation volvulus syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012090	gastric dilatation volvulus syndrome, maned wolf	http://purl.obolibrary.org/obo/MONDO_1011659	gastric dilatation volvulus syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012091	gastric dilatation volvulus syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011659	gastric dilatation volvulus syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012092	gastric dilatation volvulus syndrome, lesser panda	http://purl.obolibrary.org/obo/MONDO_1011659	gastric dilatation volvulus syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012200	esophageal motility disorder, dog	http://purl.obolibrary.org/obo/MONDO_1011661	esophageal motility disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012298	displaced abomasum, water buffalo	http://purl.obolibrary.org/obo/MONDO_1011663	displaced abomasum, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012299	displaced abomasum, cattle	http://purl.obolibrary.org/obo/MONDO_1011663	displaced abomasum, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012300	displaced abomasum, sheep	http://purl.obolibrary.org/obo/MONDO_1011663	displaced abomasum, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012343	gluten-sensitive enteropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011664	gluten-sensitive enteropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012418	anal furunculosis, dog	http://purl.obolibrary.org/obo/MONDO_1011665	anal furunculosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012446	non-specific digestive disorder, rabbit	http://purl.obolibrary.org/obo/MONDO_1011666	non-specific digestive disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012497	Lundehund syndrome, P3H2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011667	Lundehund syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012207	perosomus elumbis, dog	http://purl.obolibrary.org/obo/MONDO_1011668	perosomus elumbis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012208	perosomus elumbis, horse	http://purl.obolibrary.org/obo/MONDO_1011668	perosomus elumbis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012209	perosomus elumbis, pig	http://purl.obolibrary.org/obo/MONDO_1011668	perosomus elumbis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012210	perosomus elumbis, cattle	http://purl.obolibrary.org/obo/MONDO_1011668	perosomus elumbis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012211	perosomus elumbis, sheep	http://purl.obolibrary.org/obo/MONDO_1011668	perosomus elumbis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012256	spina bifida with myelomeningocele, cattle	http://purl.obolibrary.org/obo/MONDO_1011669	spina bifida with myelomeningocele, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012257	spina bifida with raduschisis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011670	spina bifida with raduschisis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012259	spinal dysraphism, NKX2-8-related, dog	http://purl.obolibrary.org/obo/MONDO_1011671	spinal dysraphism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012260	spinal dysraphism, cattle	http://purl.obolibrary.org/obo/MONDO_1011671	spinal dysraphism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012501	hydrallantois, water buffalo	http://purl.obolibrary.org/obo/MONDO_1011672	hydrallantois, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012502	hydrallantois, horse	http://purl.obolibrary.org/obo/MONDO_1011672	hydrallantois, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012503	hydrallantois, cattle	http://purl.obolibrary.org/obo/MONDO_1011672	hydrallantois, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012504	hydrallantois, goat	http://purl.obolibrary.org/obo/MONDO_1011672	hydrallantois, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012505	hydrallantois, sheep	http://purl.obolibrary.org/obo/MONDO_1011672	hydrallantois, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012021	spontaneous autoimmune thyroiditis, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012022	spontaneous autoimmune thyroiditis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011673	spontaneous autoimmune thyroiditis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012062	hyperosmolar nonketotic diabetes mellitus, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011674	hyperosmolar nonketotic diabetes mellitus, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012109	hypoadrenocorticism, dog	http://purl.obolibrary.org/obo/MONDO_1011675	hypoadrenocorticism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012110	hypoadrenocorticism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011675	hypoadrenocorticism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012111	hypoadrenocorticism, horse	http://purl.obolibrary.org/obo/MONDO_1011675	hypoadrenocorticism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012112	hypoadrenocorticism, goat	http://purl.obolibrary.org/obo/MONDO_1011675	hypoadrenocorticism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012113	primary hypoadrenocorticism, dog	http://purl.obolibrary.org/obo/MONDO_1011676	primary hypoadrenocorticism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012118	congenital hypoplasia of mammary gland, sheep	http://purl.obolibrary.org/obo/MONDO_1011677	congenital hypoplasia of mammary gland, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012121	primary hypothyroidism, dog	http://purl.obolibrary.org/obo/MONDO_1011678	primary hypothyroidism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012122	primary hypothyroidism, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011678	primary hypothyroidism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012378	hereditary pancreatitis, dog	http://purl.obolibrary.org/obo/MONDO_1011679	hereditary pancreatitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012467	postpartum dysgalactia syndrome, pig	http://purl.obolibrary.org/obo/MONDO_1011680	postpartum dysgalactia syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012488	ACTH-independent adrenal Cushing syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011681	ACTH-independent adrenal Cushing syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012558	anal gland disease, dog	http://purl.obolibrary.org/obo/MONDO_1011682	anal gland disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012559	anal gland disease, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011682	anal gland disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012402	caprine-like generalized hypoplasia syndrome, CEP250-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011683	caprine-like generalized hypoplasia syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012005	alloimmune hemolytic anemia of the newborn, dog	http://purl.obolibrary.org/obo/MONDO_1011684	alloimmune hemolytic anemia of the newborn, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012006	alloimmune hemolytic anemia of the newborn, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011684	alloimmune hemolytic anemia of the newborn, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012007	alloimmune hemolytic anemia of the newborn, horse	http://purl.obolibrary.org/obo/MONDO_1011684	alloimmune hemolytic anemia of the newborn, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012027	bleeding disorder, dog	http://purl.obolibrary.org/obo/MONDO_1011685	bleeding disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012028	bleeding disorder, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011685	bleeding disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012029	bleeding disorder, pig	http://purl.obolibrary.org/obo/MONDO_1011685	bleeding disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012030	bleeding disorder, cattle	http://purl.obolibrary.org/obo/MONDO_1011685	bleeding disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012052	contact activation defect, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011686	contact activation defect, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012055	cyclic neutropenia, AP3B1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011687	cyclic neutropenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012067	congenital dyserythropoietic anemia with dyskeratosis and progressive alopecia, cattle	http://purl.obolibrary.org/obo/MONDO_1011688	congenital dyserythropoietic anemia with dyskeratosis and progressive alopecia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012095	hemolytic anemia, dog	http://purl.obolibrary.org/obo/MONDO_1011689	hemolytic anemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012096	hemolytic anemia, cattle	http://purl.obolibrary.org/obo/MONDO_1011689	hemolytic anemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012097	hemolytic anemia, sheep	http://purl.obolibrary.org/obo/MONDO_1011689	hemolytic anemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012098	primary autoimmune hemolytic anemia, dog	http://purl.obolibrary.org/obo/MONDO_1011690	primary autoimmune hemolytic anemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012099	primary autoimmune hemolytic anemia, horse	http://purl.obolibrary.org/obo/MONDO_1011690	primary autoimmune hemolytic anemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012216	platelet function defect, cattle	http://purl.obolibrary.org/obo/MONDO_1011691	platelet function defect, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012230	protein C deficiency, horse	http://purl.obolibrary.org/obo/MONDO_1011692	protein C deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012234	reduced glutathione deficiency due to GCS deficiency, sheep	http://purl.obolibrary.org/obo/MONDO_1011693	reduced glutathione deficiency due to GCS deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012270	thrombasthenia, ITGA2B-related, dog	http://purl.obolibrary.org/obo/MONDO_1011694	thrombasthenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012271	thrombasthenia, ITGA2B-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011694	thrombasthenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012272	thrombasthenia, ITGA2B-related, horse	http://purl.obolibrary.org/obo/MONDO_1011694	thrombasthenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012273	thrombopathia, dog	http://purl.obolibrary.org/obo/MONDO_1011695	thrombopathia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012274	thrombopathia, pig	http://purl.obolibrary.org/obo/MONDO_1011695	thrombopathia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012316	stomatocytosis and gastrits, dog	http://purl.obolibrary.org/obo/MONDO_1011696	stomatocytosis and gastrits, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012332	hemophagocytic syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011697	hemophagocytic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012333	hemophagocytic syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011697	hemophagocytic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012336	reduced glutathione deficiency due to amino-acid transport defect, sheep	http://purl.obolibrary.org/obo/MONDO_1011698	reduced glutathione deficiency due to amino-acid transport defect, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012337	reduced glutathione deficiency, dog	http://purl.obolibrary.org/obo/MONDO_1011699	reduced glutathione deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012338	reduced glutathione deficiency, goat	http://purl.obolibrary.org/obo/MONDO_1011699	reduced glutathione deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012339	reduced glutathione deficiency, sheep	http://purl.obolibrary.org/obo/MONDO_1011699	reduced glutathione deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011693	reduced glutathione deficiency due to GCS deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011699	reduced glutathione deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011698	reduced glutathione deficiency due to amino-acid transport defect, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011699	reduced glutathione deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012383	trapped neutrophil syndrome, VPS13B-related, dog	http://purl.obolibrary.org/obo/MONDO_1011700	trapped neutrophil syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012410	combined deficiency of factors IX and XII, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011701	combined deficiency of factors IX and XII, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012413	neonatal pancytopenia, cattle	http://purl.obolibrary.org/obo/MONDO_1011702	neonatal pancytopenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012453	selective ADP deficiency, dog	http://purl.obolibrary.org/obo/MONDO_1011703	selective ADP deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012483	exercise-induced pulmonary hemorrhage, horse	http://purl.obolibrary.org/obo/MONDO_1011704	exercise-induced pulmonary hemorrhage, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012493	combined deficiency of factors VIII, IX, and X, horse	http://purl.obolibrary.org/obo/MONDO_1011705	combined deficiency of factors VIII, IX, and X, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012536	atypical thrombasthenia, SEL1L-related, horse	http://purl.obolibrary.org/obo/MONDO_1011706	atypical thrombasthenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012538	congenital dyserythropoietic anemia, cattle	http://purl.obolibrary.org/obo/MONDO_1011707	congenital dyserythropoietic anemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012565	dyserythropoietic anemia and myopathy syndrome, EHBP1L1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011708	dyserythropoietic anemia and myopathy syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012439	ear necrosis syndrome, pig	http://purl.obolibrary.org/obo/MONDO_1011709	ear necrosis syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012520	bilateral deafness and vestibular dysfunction, MYO7A-related, dog	http://purl.obolibrary.org/obo/MONDO_1011710	bilateral deafness and vestibular dysfunction, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012521	bilateral deafness and vestibular dysfunction, MYO7A-related, pig	http://purl.obolibrary.org/obo/MONDO_1011710	bilateral deafness and vestibular dysfunction, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012528	unilateral deafness and vestibular dysfunction, PTPRQ-related, dog	http://purl.obolibrary.org/obo/MONDO_1011711	unilateral deafness and vestibular dysfunction, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012008	alloxan-diabetes, dog	http://purl.obolibrary.org/obo/MONDO_1011712	alloxan-diabetes, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012144	malignant hyperthermia, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012145	malignant hyperthermia, RYR1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011713	malignant hyperthermia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012146	malignant hyperthermia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011713	malignant hyperthermia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012147	malignant hyperthermia, RYR1-related, horse	http://purl.obolibrary.org/obo/MONDO_1011713	malignant hyperthermia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012148	malignant hyperthermia, RYR1-related, pig	http://purl.obolibrary.org/obo/MONDO_1011713	malignant hyperthermia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012149	malignant hyperthermia, deer	http://purl.obolibrary.org/obo/MONDO_1011713	malignant hyperthermia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012150	malignant hyperthermia, cattle	http://purl.obolibrary.org/obo/MONDO_1011713	malignant hyperthermia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012151	malignant hyperthermia, rabbit	http://purl.obolibrary.org/obo/MONDO_1011713	malignant hyperthermia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012304	hypocatalasia, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1011714	hypocatalasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012305	hypocatalasia, CAT-related, dog	http://purl.obolibrary.org/obo/MONDO_1011714	hypocatalasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012321	pseudocholinesterase deficiency, horse	http://purl.obolibrary.org/obo/MONDO_1011715	pseudocholinesterase deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012353	hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1011716	hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012414	pulmonary hypoplasia with anasarca, ADAMTS3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011717	pulmonary hypoplasia with anasarca, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012416	Kurosawa and Kusanagi hypercholesterolaemia, rabbit	http://purl.obolibrary.org/obo/MONDO_1011718	Kurosawa and Kusanagi hypercholesterolaemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012451	intestinal cobalamin (vitamin B12) malabsorption, dog	http://purl.obolibrary.org/obo/MONDO_1011719	intestinal cobalamin (vitamin B12) malabsorption, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012452	intestinal cobalamin (vitamin B12) malabsorption, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011719	intestinal cobalamin (vitamin B12) malabsorption, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012499	subclinical hypocalcemia, cattle	http://purl.obolibrary.org/obo/MONDO_1011720	subclinical hypocalcemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012500	subclinical hypomagnesemia, cattle	http://purl.obolibrary.org/obo/MONDO_1011721	subclinical hypomagnesemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012546	cytochrome B-related exercise intolerance, sheep	http://purl.obolibrary.org/obo/MONDO_1011722	cytochrome B-related exercise intolerance, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012561	mitochondrial fission encephalopathy, MFF-related, dog	http://purl.obolibrary.org/obo/MONDO_1011723	mitochondrial fission encephalopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012125	immunodeficiency disease, dog	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012126	immunodeficiency disease, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012127	immunodeficiency disease, llama	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011725	immunoglobulin 7S deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011726	immunoglobulin A deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011727	immunoglobulin G deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011728	immunoglobulin G2 deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011729	immunoglobulin M deficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011724	immunodeficiency disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012128	immunoglobulin 7S deficiency, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012129	immunoglobulin A deficiency, gray wolf	http://purl.obolibrary.org/obo/MONDO_1011726	immunoglobulin A deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012130	immunoglobulin A deficiency, dog	http://purl.obolibrary.org/obo/MONDO_1011726	immunoglobulin A deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012131	immunoglobulin G deficiency, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012132	immunoglobulin G deficiency, dog	http://purl.obolibrary.org/obo/MONDO_1011727	immunoglobulin G deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012133	immunoglobulin G deficiency, horse	http://purl.obolibrary.org/obo/MONDO_1011727	immunoglobulin G deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012134	immunoglobulin G2 deficiency, cattle	http://purl.obolibrary.org/obo/MONDO_1011728	immunoglobulin G2 deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012135	immunoglobulin M deficiency, horse	http://purl.obolibrary.org/obo/MONDO_1011729	immunoglobulin M deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012428	complement component 4 deficiency, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1011730	complement component 4 deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012456	multiple autoimmune diseases syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011731	multiple autoimmune diseases syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012494	autosomal T cell-negative, B cell-negative, NK cell-positive severe combined immunodeficiency disease, DCLRE1C-related, pig	http://purl.obolibrary.org/obo/MONDO_1011732	autosomal T cell-negative, B cell-negative, NK cell-positive severe combined immunodeficiency disease with sensitivity to ionizing radiation, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012017	atopy, dog	http://purl.obolibrary.org/obo/MONDO_1011733	atopy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012018	atopy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011733	atopy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012026	black hair follicular dysplasia, cattle	http://purl.obolibrary.org/obo/MONDO_1011734	black hair follicular dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012060	dermal allergy, horse	http://purl.obolibrary.org/obo/MONDO_1011735	dermal allergy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012061	dermatosis vegetans, pig	http://purl.obolibrary.org/obo/MONDO_1011736	dermatosis vegetans, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012068	dystrophic epidermolysis bullosa, COL7A1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011737	dystrophic epidermolysis bullosa, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012069	dystrophic epidermolysis bullosa, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011737	dystrophic epidermolysis bullosa, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012070	dystrophic epidermolysis bullosa, COL7A1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011737	dystrophic epidermolysis bullosa, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012071	dystrophic epidermolysis bullosa, goat	http://purl.obolibrary.org/obo/MONDO_1011737	dystrophic epidermolysis bullosa, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012072	dystrophic epidermolysis bullosa, sheep	http://purl.obolibrary.org/obo/MONDO_1011737	dystrophic epidermolysis bullosa, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012080	focal metatarsal fistula, dog	http://purl.obolibrary.org/obo/MONDO_1011738	focal metatarsal fistula, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012123	congenital hypotrichosis with thymic aplasia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011739	congenital hypotrichosis with thymic aplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012222	primary seborrhea-oleosa, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011740	primary seborrhea-oleosa, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012306	cutaneous papillomatosis, horse	http://purl.obolibrary.org/obo/MONDO_1011741	cutaneous papillomatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012307	cutaneous papillomatosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011741	cutaneous papillomatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012312	congenital erythropoietic porphyria, UROS-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011742	congenital erythropoietic porphyria, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012313	congenital erythropoietic porphyria, pig	http://purl.obolibrary.org/obo/MONDO_1011742	congenital erythropoietic porphyria, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012314	congenital erythropoietic porphyria, cattle	http://purl.obolibrary.org/obo/MONDO_1011742	congenital erythropoietic porphyria, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012315	congenital erythropoietic porphyria, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011742	congenital erythropoietic porphyria, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012318	nodular dermatofibrosis and kidney disease, dog	http://purl.obolibrary.org/obo/MONDO_1011743	nodular dermatofibrosis and kidney disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012328	cutaneous and renal vasculopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011744	cutaneous and renal vasculopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012345	comedo syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011745	comedo syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012346	facial eczema, cattle	http://purl.obolibrary.org/obo/MONDO_1011746	facial eczema, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012347	facial eczema, sheep	http://purl.obolibrary.org/obo/MONDO_1011746	facial eczema, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012348	recessive hypotrichosis, SGK3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011747	recessive hypotrichosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012349	recessive hypotrichosis, pig	http://purl.obolibrary.org/obo/MONDO_1011747	recessive hypotrichosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012352	urticaria pigmentosa, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011748	urticaria pigmentosa, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012368	linear IgA disease, dog	http://purl.obolibrary.org/obo/MONDO_1011749	linear IgA disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012375	follicular dysplasia and interface dermatitis, dog	http://purl.obolibrary.org/obo/MONDO_1011750	follicular dysplasia and interface dermatitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012376	acrochordonous plaque, dog	http://purl.obolibrary.org/obo/MONDO_1011751	acrochordonous plaque, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012377	nasal parakeratosis, SUV39H2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011752	nasal parakeratosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012387	juvenile with age-dependent emphysema hypotrichosis, pig	http://purl.obolibrary.org/obo/MONDO_1011753	juvenile with age-dependent emphysema hypotrichosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012396	reactive perforating collagenosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011754	reactive perforating collagenosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012415	sebaceous adenitis, dog	http://purl.obolibrary.org/obo/MONDO_1011755	sebaceous adenitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012422	exfoliative cutaneous lupus erythematosus, UNC93B1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011756	exfoliative cutaneous lupus erythematosus, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012438	sebaceous gland dysplasia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011757	sebaceous gland dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012487	zinc deficiency-like syndrome, PLD4-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011758	zinc deficiency-like syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012489	hypotrichosis with short life expectancy, FOXN1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011759	hypotrichosis with short life expectancy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012495	symmetrical onychomadesis, dog	http://purl.obolibrary.org/obo/MONDO_1011760	symmetrical onychomadesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012512	naked foal syndrome, ST14-related, horse	http://purl.obolibrary.org/obo/MONDO_1011761	naked foal syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012513	verrucous epidermal keratinocytic nevi, NSDHL-related, dog	http://purl.obolibrary.org/obo/MONDO_1011762	verrucous epidermal keratinocytic nevi, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012514	verrucous epidermal keratinocytic nevi, NSDHL-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011762	verrucous epidermal keratinocytic nevi, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012519	lethal acrodermatitis, MKLN1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011763	lethal acrodermatitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012527	ichthyosis fetalis, sheep	http://purl.obolibrary.org/obo/MONDO_1011764	ichthyosis fetalis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012163	micromelia, ducks	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012164	micromelia, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012165	micromelia, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012286	warts between hooves, cattle	http://purl.obolibrary.org/obo/MONDO_1011766	warts between hooves, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012329	laminitis, ass	http://purl.obolibrary.org/obo/MONDO_1011767	laminitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012330	laminitis, horse	http://purl.obolibrary.org/obo/MONDO_1011767	laminitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012331	laminitis, cattle	http://purl.obolibrary.org/obo/MONDO_1011767	laminitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012334	bone spavin, horse	http://purl.obolibrary.org/obo/MONDO_1011768	bone spavin, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012335	bone spavin, red deer	http://purl.obolibrary.org/obo/MONDO_1011768	bone spavin, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012371	dysplasia epiphysealis hememelica, dog	http://purl.obolibrary.org/obo/MONDO_1011769	dysplasia epiphysealis hememelica, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012430	necrosis of digits, dog	http://purl.obolibrary.org/obo/MONDO_1011770	necrosis of digits, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012473	medial coronoid disease, dog	http://purl.obolibrary.org/obo/MONDO_1011771	medial coronoid disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012484	hoof wall separation syndrome, SERPINB11-related, horse	http://purl.obolibrary.org/obo/MONDO_1011772	hoof wall separation syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012509	degenerative suspensory ligament desmitis, horse	http://purl.obolibrary.org/obo/MONDO_1011773	degenerative suspensory ligament desmitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012531	digital dermatitis, cattle	http://purl.obolibrary.org/obo/MONDO_1011774	digital dermatitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012102	idiopathic hepatic fibrosis, dog	http://purl.obolibrary.org/obo/MONDO_1011775	idiopathic hepatic fibrosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012103	idiopathic hepatic fibrosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011775	idiopathic hepatic fibrosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012136	inborn error of hepatic metabolism, dog	http://purl.obolibrary.org/obo/MONDO_1011776	inborn error of hepatic metabolism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012221	portosystemic hepatic encephalopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011777	portosystemic hepatic encephalopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012290	chronic active hepatitis, dog	http://purl.obolibrary.org/obo/MONDO_1011778	chronic active hepatitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012291	neonatal hepatitis, dog	http://purl.obolibrary.org/obo/MONDO_1011779	neonatal hepatitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012409	gallbladder mucocele, ABCB4-related, dog	http://purl.obolibrary.org/obo/MONDO_1011780	gallbladder mucocele, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012543	congential hepatic fibrosis, dog	http://purl.obolibrary.org/obo/MONDO_1011781	congential hepatic fibrosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012569	hepatocellular fibrinogen storage disease, DGKG-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011782	hepatocellular fibrinogen storage disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012087	alpha fucosidosis, FUCA1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011783	alpha fucosidosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012088	alpha fucosidosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011783	alpha fucosidosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012325	premature senesence, LMNA-related, pig	http://purl.obolibrary.org/obo/MONDO_1011784	premature senesence, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012326	premature senesence, LMNA-related, rabbit	http://purl.obolibrary.org/obo/MONDO_1011784	premature senesence, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012440	lethal multi-organ developmental dysplasia, KDM2B-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011785	lethal multi-organ developmental dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012466	perinatal weak calf syndrome, IARS-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011786	perinatal weak calf syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012057	degenerative myopathy of deep pectoral muscle, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012058	degenerative myopathy of obturator-externus, dog	http://purl.obolibrary.org/obo/MONDO_1011788	degenerative myopathy of obturator-externus, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012078	fibrodysplasia ossificans, dog	http://purl.obolibrary.org/obo/MONDO_1011789	fibrodysplasia ossificans, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012079	fibrodysplasia ossificans, ACVR1-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011789	fibrodysplasia ossificans, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012173	dysphagia-associated muscular dystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011790	dysphagia-associated muscular dystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012182	mitochondrial myopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011791	mitochondrial myopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012183	subacute progressive myopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011792	subacute progressive myopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012225	progressive myopathy, pig	http://purl.obolibrary.org/obo/MONDO_1011793	progressive myopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012250	spastic lameness, cattle	http://purl.obolibrary.org/obo/MONDO_1011794	spastic lameness, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012303	masticatory muscle myositis, dog	http://purl.obolibrary.org/obo/MONDO_1011795	masticatory muscle myositis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012319	high-frequency tremor, macaques	http://purl.obolibrary.org/obo/MONDO_1011796	high-frequency tremor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012320	high-frequency tremor, MYH7-related, pig	http://purl.obolibrary.org/obo/MONDO_1011796	high-frequency tremor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012363	myopathy of the diaphragmatic muscles, HSPA1A-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011797	myopathy of the diaphragmatic muscles, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012384	forelimb-girdle muscular anomaly, GFRA1-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011798	forelimb-girdle muscular anomaly, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012385	inherited periodic spasticity, cattle	http://purl.obolibrary.org/obo/MONDO_1011799	inherited periodic spasticity, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012403	contractural arachnodactyly, ADAMTSL3-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011800	contractural arachnodactyly, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012412	type 2 polysaccharide storage myopathy, horse	http://purl.obolibrary.org/obo/MONDO_1011801	type 2 polysaccharide storage myopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012425	congenital merosin-deficient muscular dystrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011802	congenital merosin-deficient muscular dystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012426	muscular dystrophy-dystroglycanopathy (limb-girdle), chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012427	muscular dystrophy-dystroglycanopathy (limb-girdle), COLQ-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011803	muscular dystrophy-dystroglycanopathy (limb-girdle), non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012454	congenital myopathy with fiber-type disproportion, dog	http://purl.obolibrary.org/obo/MONDO_1011804	congenital myopathy with fiber-type disproportion, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012517	exercise induced metabolic myopathy, ACADVL-related, dog	http://purl.obolibrary.org/obo/MONDO_1011805	exercise induced metabolic myopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012518	immune-mediated myositis, MYH1-related, horse	http://purl.obolibrary.org/obo/MONDO_1011806	immune-mediated myositis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012554	atypical myopathy, horse	http://purl.obolibrary.org/obo/MONDO_1011807	atypical myopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012104	Hodgkin disease, dog	http://purl.obolibrary.org/obo/MONDO_1011808	Hodgkin disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012141	multiple lipomatosis, dog	http://purl.obolibrary.org/obo/MONDO_1011809	multiple lipomatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012142	multiple lipomatosis, pig	http://purl.obolibrary.org/obo/MONDO_1011809	multiple lipomatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012143	multiple lipomatosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011809	multiple lipomatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012152	megakaryoblastic leukemia, dog	http://purl.obolibrary.org/obo/MONDO_1011810	megakaryoblastic leukemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012162	congenital melanoma, pig	http://purl.obolibrary.org/obo/MONDO_1011811	congenital melanoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012195	ocular squamous cell carcinoma, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011812	ocular squamous cell carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012196	ocular squamous cell carcinoma, DDB2-related, horse	http://purl.obolibrary.org/obo/MONDO_1011812	ocular squamous cell carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012197	ocular squamous cell carcinoma, cattle	http://purl.obolibrary.org/obo/MONDO_1011812	ocular squamous cell carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012198	ocular squamous cell carcinoma, goat	http://purl.obolibrary.org/obo/MONDO_1011812	ocular squamous cell carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012199	ocular squamous cell carcinoma, sheep	http://purl.obolibrary.org/obo/MONDO_1011812	ocular squamous cell carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012248	sarcoid, ass	http://purl.obolibrary.org/obo/MONDO_1011813	sarcoid, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012249	sarcoid, horse	http://purl.obolibrary.org/obo/MONDO_1011813	sarcoid, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012366	melanoblastoma, pig	http://purl.obolibrary.org/obo/MONDO_1011814	melanoblastoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012369	renal cystadenocarcinoma and nodular dermatofibrosis, FLCN-related, dog	http://purl.obolibrary.org/obo/MONDO_1011815	renal cystadenocarcinoma and nodular dermatofibrosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012380	lymphoproliferative disease, dog	http://purl.obolibrary.org/obo/MONDO_1011816	lymphoproliferative disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012399	anal sac gland carcinoma, dog	http://purl.obolibrary.org/obo/MONDO_1011817	anal sac gland carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012404	invasive transitional cell carcinoma, dog	http://purl.obolibrary.org/obo/MONDO_1011818	invasive transitional cell carcinoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012405	chronic myelogenous leukemia, dog	http://purl.obolibrary.org/obo/MONDO_1011819	chronic myelogenous leukemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012406	chronic myelogenous leukemia, pig	http://purl.obolibrary.org/obo/MONDO_1011819	chronic myelogenous leukemia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012408	colorectal hamartomatous polyposis and ganglioneuromatosis, PTEN-related, dog	http://purl.obolibrary.org/obo/MONDO_1011820	colorectal hamartomatous polyposis and ganglioneuromatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012442	malignant melanoma, dog	http://purl.obolibrary.org/obo/MONDO_1011821	malignant melanoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012443	malignant melanoma, lion	http://purl.obolibrary.org/obo/MONDO_1011821	malignant melanoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012449	squamous cell carcinoma of the digit, KITLG-related, dog	http://purl.obolibrary.org/obo/MONDO_1011822	squamous cell carcinoma of the digit, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012457	hemangiosarcoma, cockatiel	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012458	hemangiosarcoma, orange-winged Amazon parrot	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012459	hemangiosarcoma, African hunting dog	http://purl.obolibrary.org/obo/MONDO_1011823	hemangiosarcoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012460	hemangiosarcoma, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011823	hemangiosarcoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012461	hemangiosarcoma, horse	http://purl.obolibrary.org/obo/MONDO_1011823	hemangiosarcoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012462	hemangiosarcoma, pig	http://purl.obolibrary.org/obo/MONDO_1011823	hemangiosarcoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012463	hemangiosarcoma, cattle	http://purl.obolibrary.org/obo/MONDO_1011823	hemangiosarcoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012464	hemangiosarcoma, sheep	http://purl.obolibrary.org/obo/MONDO_1011823	hemangiosarcoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012472	horn cancer, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011824	horn cancer, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012545	choroid plexus tumour, dog	http://purl.obolibrary.org/obo/MONDO_1011825	choroid plexus tumour, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012560	dysplastic gangliocytoma of the cerebellum, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011826	dysplastic gangliocytoma of the cerebellum, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012568	congenital mast cell tumor, PLP2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011827	congenital mast cell tumor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700101	carcinoma, non-human animal	http://purl.obolibrary.org/obo/MONDO_1013729	epithelial neoplasm, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012016	progressive ataxia with degenerative thoracic myelopathy, sheep	http://purl.obolibrary.org/obo/MONDO_1011829	progressive ataxia with degenerative thoracic myelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012020	audiogenic seizure, rabbit	http://purl.obolibrary.org/obo/MONDO_1011830	audiogenic seizure, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012023	distal axonopathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011831	distal axonopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012024	peripheral axonopathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011832	peripheral axonopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012037	cerebellar Purkinje cell degeneration, dog	http://purl.obolibrary.org/obo/MONDO_1011833	cerebellar Purkinje cell degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012038	cerebellar abiotrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011834	cerebellar abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012039	cerebellar abiotrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011834	cerebellar abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012040	cerebellar abiotrophy, horse	http://purl.obolibrary.org/obo/MONDO_1011834	cerebellar abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012041	cerebellar abiotrophy, cattle	http://purl.obolibrary.org/obo/MONDO_1011834	cerebellar abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012042	cerebellar abiotrophy, goat	http://purl.obolibrary.org/obo/MONDO_1011834	cerebellar abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012043	cerebellar abiotrophy, sheep	http://purl.obolibrary.org/obo/MONDO_1011834	cerebellar abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012044	congenital cerebellar anomaly, pig	http://purl.obolibrary.org/obo/MONDO_1011835	congenital cerebellar anomaly, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012045	cerebellar cortical atrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011836	cerebellar cortical atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012046	cerebellar cortical atrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011836	cerebellar cortical atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012047	cerebellar cortical atrophy, cattle	http://purl.obolibrary.org/obo/MONDO_1011836	cerebellar cortical atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012048	cerebellar cortical atrophy, sheep	http://purl.obolibrary.org/obo/MONDO_1011836	cerebellar cortical atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012049	cerebellar disease, cattle	http://purl.obolibrary.org/obo/MONDO_1011837	cerebellar disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012053	congenital copper deficiency, goat	http://purl.obolibrary.org/obo/MONDO_1011838	congenital copper deficiency, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012056	degenerative myelopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011839	degenerative myelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012059	delta 9-tetrahydrocannabinol seizure, rabbit	http://purl.obolibrary.org/obo/MONDO_1011840	delta 9-tetrahydrocannabinol seizure, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012077	faded shaker, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012094	granule cell type cerebellar hypoplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011842	granule cell type cerebellar hypoplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012105	internal hydrocephalus, dog	http://purl.obolibrary.org/obo/MONDO_1011843	internal hydrocephalus, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012106	internal hydrocephalus, cattle	http://purl.obolibrary.org/obo/MONDO_1011843	internal hydrocephalus, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012108	hypertrophic neuropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011844	hypertrophic neuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012114	congenital hypomyelinogenesis, dog	http://purl.obolibrary.org/obo/MONDO_1011845	congenital hypomyelinogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012115	congenital hypomyelinogenesis, pig	http://purl.obolibrary.org/obo/MONDO_1011845	congenital hypomyelinogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012116	congenital hypomyelinogenesis, KIF1C-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011845	congenital hypomyelinogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012117	congenital hypomyelinogenesis, sheep	http://purl.obolibrary.org/obo/MONDO_1011845	congenital hypomyelinogenesis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012119	hypothalamic dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011846	hypothalamic dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012124	hypotrophic axonopathy, NEFL-related, Japanese quail	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012167	lower motor neuron disease, dog	http://purl.obolibrary.org/obo/MONDO_1011848	lower motor neuron disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012168	lower motor neuron disease, horse	http://purl.obolibrary.org/obo/MONDO_1011848	lower motor neuron disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012169	lower motor neuron disease, pig	http://purl.obolibrary.org/obo/MONDO_1011848	lower motor neuron disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012170	lower motor neuron disease, AGTPBP1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011848	lower motor neuron disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012174	myasthenia, Amur tiger	http://purl.obolibrary.org/obo/MONDO_1011849	myasthenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012175	myasthenia, dog	http://purl.obolibrary.org/obo/MONDO_1011849	myasthenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012176	myasthenia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011849	myasthenia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012185	necrotising myelopathy, IBA57-related, dog	http://purl.obolibrary.org/obo/MONDO_1011850	necrotising myelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012189	congenital neuromuscular disease, sheep	http://purl.obolibrary.org/obo/MONDO_1011851	congenital neuromuscular disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012190	neurogenic muscular atrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011852	neurogenic muscular atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012191	neurological syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011853	neurological syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012192	neurological syndrome, horse	http://purl.obolibrary.org/obo/MONDO_1011853	neurological syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012193	thalamic-cerebellar neuropathy, sheep	http://purl.obolibrary.org/obo/MONDO_1011854	thalamic-cerebellar neuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012220	distal sensorimotor polyneuropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011855	distal sensorimotor polyneuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012223	progressive axonopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011856	progressive axonopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012224	progressive cerebellar abiotrophy, pig	http://purl.obolibrary.org/obo/MONDO_1011857	progressive cerebellar abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012229	progressive spinal myelopathy, cattle	http://purl.obolibrary.org/obo/MONDO_1011858	progressive spinal myelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012252	spastic paresis, pig	http://purl.obolibrary.org/obo/MONDO_1011859	spastic paresis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012253	spastic paresis, cattle	http://purl.obolibrary.org/obo/MONDO_1011859	spastic paresis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012254	spastic syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1011860	spastic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012255	spastic syndrome, sheep	http://purl.obolibrary.org/obo/MONDO_1011860	spastic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012277	tremor, ducks	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012278	tremor, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012279	tremor, dog	http://purl.obolibrary.org/obo/MONDO_1011861	tremor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012280	tremor, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011861	tremor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012281	tremor, pig	http://purl.obolibrary.org/obo/MONDO_1011861	tremor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012282	tremor, cattle	http://purl.obolibrary.org/obo/MONDO_1011861	tremor, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012283	tremor syndrome with central axonopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011862	tremor syndrome with central axonopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012292	subacute necrotising encephalopathy of Leigh, SLC19A3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011863	subacute necrotising encephalopathy of Leigh, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012293	subacute necrotising encephalopathy of Leigh, cattle	http://purl.obolibrary.org/obo/MONDO_1011863	subacute necrotising encephalopathy of Leigh, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012294	polymicrogyria and asymmetrical ventricular dilation, dog	http://purl.obolibrary.org/obo/MONDO_1011864	polymicrogyria and asymmetrical ventricular dilation, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012295	axonopathy, MFN2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011865	axonopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012309	degenerative myeloencephalopathy, horse	http://purl.obolibrary.org/obo/MONDO_1011866	degenerative myeloencephalopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012310	neuronal abiotrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011867	neuronal abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012311	motor neuron disease, dog	http://purl.obolibrary.org/obo/MONDO_1011868	motor neuron disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012341	spinal dysmyelination, SPAST-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011869	spinal dysmyelination, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012350	polioencephalomyelopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011870	polioencephalomyelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012351	progressive neuronopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011871	progressive neuronopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012354	polyneuropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011872	polyneuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012355	polyneuropathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011872	polyneuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012360	neuronal vacuolar disorder, dog	http://purl.obolibrary.org/obo/MONDO_1011873	neuronal vacuolar disorder, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012370	degenerative neuromuscular disease, cattle	http://purl.obolibrary.org/obo/MONDO_1011874	degenerative neuromuscular disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012372	progressive ataxia with head tremor and seizures, dog	http://purl.obolibrary.org/obo/MONDO_1011875	progressive ataxia with head tremor and seizures, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012388	unilateral subcortical heterotopia, California sea lion	http://purl.obolibrary.org/obo/MONDO_1011876	unilateral subcortical heterotopia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012389	exercise-induced collapse, DNM1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011877	exercise-induced collapse, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012390	sensory ataxic neuropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011878	sensory ataxic neuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012391	necrotizing meningoencephalitis, dog	http://purl.obolibrary.org/obo/MONDO_1011879	necrotizing meningoencephalitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012392	neonatal encephalopathy with seizures, ATF2-related, dog	http://purl.obolibrary.org/obo/MONDO_1011880	neonatal encephalopathy with seizures, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012397	tomaculous neuropathy, cattle	http://purl.obolibrary.org/obo/MONDO_1011881	tomaculous neuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012398	segmental axonopathy, ALS2-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011882	segmental axonopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012400	dilute coat color with neurological defects, MYO5A-related, dog	http://purl.obolibrary.org/obo/MONDO_1011883	dilute coat color with neurological defects, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012401	dilute coat color with neurological defects, MYO5A-related, horse	http://purl.obolibrary.org/obo/MONDO_1011883	dilute coat color with neurological defects, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012407	acral mutilation syndrome, GDNF-related, dog	http://purl.obolibrary.org/obo/MONDO_1011884	acral mutilation syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012419	episodic falling, BCAN-related, dog	http://purl.obolibrary.org/obo/MONDO_1011885	episodic falling, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012421	neuroaxonal dystrophy with cerebellar abiotrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011886	neuroaxonal dystrophy with cerebellar abiotrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012429	retinal dysplasia and internal hydrocephalus, cattle	http://purl.obolibrary.org/obo/MONDO_1011887	retinal dysplasia and internal hydrocephalus, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012434	congenital hydranencephaly and cerebellar hypoplasia, water buffalo	http://purl.obolibrary.org/obo/MONDO_1011888	congenital hydranencephaly and cerebellar hypoplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012435	congenital hydranencephaly and cerebellar hypoplasia, cattle	http://purl.obolibrary.org/obo/MONDO_1011888	congenital hydranencephaly and cerebellar hypoplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012441	familial episodic spinocerebellar ataxia, FGF14-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011889	familial episodic spinocerebellar ataxia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012450	leukoencephalomyelopathy, NAPEPLD-related, dog	http://purl.obolibrary.org/obo/MONDO_1011890	leukoencephalomyelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012479	cervical vertebral compressive myelopathy, dog	http://purl.obolibrary.org/obo/MONDO_1011891	cervical vertebral compressive myelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012480	cervical vertebral compressive myelopathy, mountain zebra	http://purl.obolibrary.org/obo/MONDO_1011891	cervical vertebral compressive myelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012481	cervical vertebral compressive myelopathy, horse	http://purl.obolibrary.org/obo/MONDO_1011891	cervical vertebral compressive myelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012482	cervical vertebral compressive myelopathy, sheep	http://purl.obolibrary.org/obo/MONDO_1011891	cervical vertebral compressive myelopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012486	spinal intradural arachnoid cyst, dog	http://purl.obolibrary.org/obo/MONDO_1011892	spinal intradural arachnoid cyst, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012492	neurodegenerative vacuolar storage disease, ATG4D-related, dog	http://purl.obolibrary.org/obo/MONDO_1011893	neurodegenerative vacuolar storage disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012506	degenerative encephalopathy, RB1CC1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011894	degenerative encephalopathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012507	Guillain-Barr-like polyradiculoneuropathy, dog	http://purl.obolibrary.org/obo/MONDO_1011895	Guillain-Barr-like polyradiculoneuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012508	Guillain-Barr-like polyradiculoneuropathy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011895	Guillain-Barr-like polyradiculoneuropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012530	cavitating leukodystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011897	cavitating leukodystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012539	hypomyelinating leukodystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011898	hypomyelinating leukodystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012550	olivopontocerebellar degeneration, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011899	olivopontocerebellar degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012537	hypopigmentation and deafness, KIT-related, pig	http://purl.obolibrary.org/obo/MONDO_1011900	hypopigmentation and deafness, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012540	white skin color and iridophoroma, leopard gecko	http://purl.obolibrary.org/obo/MONDO_1011901	white skin color and iridophoroma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012544	neuropathy and feather color dilution, Northern goshawk	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012010	renal amyloidosis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011903	renal amyloidosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012011	renal amyloidosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011903	renal amyloidosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012050	chronic interstitial nephropathy, ducks	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012100	hemolytic uremic syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011906	hemolytic uremic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012101	hemolytic uremic syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1011906	hemolytic uremic syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012187	nephropathy, pig	http://purl.obolibrary.org/obo/MONDO_1011907	nephropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012188	nephropathy, sheep	http://purl.obolibrary.org/obo/MONDO_1011907	nephropathy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011903	renal amyloidosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011904	chronic interstitial nephropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011905	glomerulonephropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011907	nephropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011908	polycystic mononephrosis, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011911	renal insufficiency, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011912	renal nephropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011913	renal cysts, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011914	protein-losing nephropathy, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011909	renal disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012236	renal dysplasia and bladder aplasia-hypoplasia, sheep	http://purl.obolibrary.org/obo/MONDO_1011910	renal dysplasia and bladder aplasia-hypoplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012342	renal cysts, pig	http://purl.obolibrary.org/obo/MONDO_1011913	renal cysts, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012524	diffuse cystic renal dysplasia and hepatic fibrosis, INPP5E-related, dog	http://purl.obolibrary.org/obo/MONDO_1011915	diffuse cystic renal dysplasia and hepatic fibrosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012525	Meckel-like hepatorenal fibrocystic dysplasia syndrome, TMEM67-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011916	Meckel-like hepatorenal fibrocystic dysplasia syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012541	idiopathic hypercalciuria, dog	http://purl.obolibrary.org/obo/MONDO_1011917	idiopathic hypercalciuria, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012081	tetragametic chimerism, bighorn sheep	http://purl.obolibrary.org/obo/MONDO_1011918	tetragametic chimerism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012082	tetragametic chimerism, water buffalo	http://purl.obolibrary.org/obo/MONDO_1011918	tetragametic chimerism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012083	tetragametic chimerism, dog	http://purl.obolibrary.org/obo/MONDO_1011918	tetragametic chimerism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012084	tetragametic chimerism, pig	http://purl.obolibrary.org/obo/MONDO_1011918	tetragametic chimerism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012085	tetragametic chimerism, cattle	http://purl.obolibrary.org/obo/MONDO_1011918	tetragametic chimerism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012086	tetragametic chimerism, sheep	http://purl.obolibrary.org/obo/MONDO_1011918	tetragametic chimerism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012264	androgen insensitivity syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011919	androgen insensitivity syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012265	androgen insensitivity syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011919	androgen insensitivity syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012266	androgen insensitivity syndrome, AR-related, horse	http://purl.obolibrary.org/obo/MONDO_1011919	androgen insensitivity syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012267	androgen insensitivity syndrome, pig	http://purl.obolibrary.org/obo/MONDO_1011919	androgen insensitivity syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012268	androgen insensitivity syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1011919	androgen insensitivity syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012361	yellow-semen syndrome, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012542	pyometra, dog	http://purl.obolibrary.org/obo/MONDO_1011921	pyometra, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012552	retained placenta, horse	http://purl.obolibrary.org/obo/MONDO_1011922	retained placenta, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012553	retained placenta, cattle	http://purl.obolibrary.org/obo/MONDO_1011922	retained placenta, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012025	respiratory distress syndrome, pig	http://purl.obolibrary.org/obo/MONDO_1011923	respiratory distress syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012032	brachycephalic airway obstruction syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1011924	brachycephalic airway obstruction syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012033	brachycephalic airway obstruction syndrome, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011924	brachycephalic airway obstruction syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012138	primary ciliary dyskinesia, dog	http://purl.obolibrary.org/obo/MONDO_1011925	primary ciliary dyskinesia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012139	primary ciliary dyskinesia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011925	primary ciliary dyskinesia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012140	primary ciliary dyskinesia, pig	http://purl.obolibrary.org/obo/MONDO_1011925	primary ciliary dyskinesia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012172	shivers, horse	http://purl.obolibrary.org/obo/MONDO_1011926	shivers, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012231	pulmonary adenomatosis, dog	http://purl.obolibrary.org/obo/MONDO_1011927	pulmonary adenomatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012232	pulmonary adenomatosis, cattle	http://purl.obolibrary.org/obo/MONDO_1011927	pulmonary adenomatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012322	laryngeal paralysis, dog	http://purl.obolibrary.org/obo/MONDO_1011928	laryngeal paralysis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012323	laryngeal paralysis, horse	http://purl.obolibrary.org/obo/MONDO_1011928	laryngeal paralysis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012324	laryngeal paralysis, cattle	http://purl.obolibrary.org/obo/MONDO_1011928	laryngeal paralysis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012379	guttural pouch tympany, horse	http://purl.obolibrary.org/obo/MONDO_1011929	guttural pouch tympany, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012386	recurrent airway obstruction, horse	http://purl.obolibrary.org/obo/MONDO_1011930	recurrent airway obstruction, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012478	upper airway syndrome, ADAMTS3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011931	upper airway syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012529	recurrent inflammatory pulmonary disease, AKNA-related, dog	http://purl.obolibrary.org/obo/MONDO_1011932	recurrent inflammatory pulmonary disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012534	pulmonary surfactant metabolism dysfunction, LAMP3-related, dog	http://purl.obolibrary.org/obo/MONDO_1011933	pulmonary surfactant metabolism dysfunction, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012548	dynamic laryngeal collapse, horse	http://purl.obolibrary.org/obo/MONDO_1011934	dynamic laryngeal collapse, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012564	growth and respiratory lethal syndrome, EDN2-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011935	growth and respiratory lethal syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012013	arthritis deformans, pig	http://purl.obolibrary.org/obo/MONDO_1011936	arthritis deformans, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012014	type-II collagen-immune complex arthritis, sheep	http://purl.obolibrary.org/obo/MONDO_1011937	type-II collagen-immune complex arthritis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012015	arthrogryposis and palatoschisis syndrome, cattle	http://purl.obolibrary.org/obo/MONDO_1011938	arthrogryposis and palatoschisis syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012034	brachygnathia superior and degenerative joint disease, cattle	http://purl.obolibrary.org/obo/MONDO_1011939	brachygnathia superior and degenerative joint disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012063	ocular-skeletal dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011940	ocular-skeletal dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012064	Ancon dwarfism, sheep	http://purl.obolibrary.org/obo/MONDO_1011941	Ancon dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012065	autosomal dwarfism, TMEM263-related, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012066	pituitary dwarfism, dog	http://purl.obolibrary.org/obo/MONDO_1011943	pituitary dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012073	multiple exostoses, dog	http://purl.obolibrary.org/obo/MONDO_1011944	multiple exostoses, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012074	multiple exostoses, horse	http://purl.obolibrary.org/obo/MONDO_1011944	multiple exostoses, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012075	multiple exostoses, pig	http://purl.obolibrary.org/obo/MONDO_1011944	multiple exostoses, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012120	hypothyroidism and dwarfism, Sumatran tiger	http://purl.obolibrary.org/obo/MONDO_1011945	hypothyroidism and dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012137	congenital joint laxity and dwarfism, cattle	http://purl.obolibrary.org/obo/MONDO_1011946	congenital joint laxity and dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012171	muscle contracture and chondrodysplasia, cattle	http://purl.obolibrary.org/obo/MONDO_1011947	muscle contracture and chondrodysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012184	navicular disease, horse	http://purl.obolibrary.org/obo/MONDO_1011948	navicular disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012194	occipital dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011949	occipital dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012201	osteochondroma causing progressive posterior paresis, dog	http://purl.obolibrary.org/obo/MONDO_1011950	osteochondroma causing progressive posterior paresis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012202	osteodystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011951	osteodystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012203	osteodystrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011951	osteodystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012204	osteodystrophy, cattle	http://purl.obolibrary.org/obo/MONDO_1011951	osteodystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012205	osteodystrophy, rabbit	http://purl.obolibrary.org/obo/MONDO_1011951	osteodystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012217	polyarthritis, dog	http://purl.obolibrary.org/obo/MONDO_1011952	polyarthritis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012218	polyarthritis, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011952	polyarthritis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012258	spinal dysplasia, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011953	spinal dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012275	tibial dyschondroplasia, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012276	tibial dyschondroplasia, turkey	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012301	spondylosis deformans, dog	http://purl.obolibrary.org/obo/MONDO_1011955	spondylosis deformans, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012302	spondylosis deformans, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011955	spondylosis deformans, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012356	growth-hormone-receptor deficiency dwarfism, cattle	http://purl.obolibrary.org/obo/MONDO_1011956	growth-hormone-receptor deficiency dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012357	hypochondroplastic dwarfism, dog	http://purl.obolibrary.org/obo/MONDO_1011957	hypochondroplastic dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012364	Laron dwarfism, pig	http://purl.obolibrary.org/obo/MONDO_1011958	Laron dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012365	Laron dwarfism, cattle	http://purl.obolibrary.org/obo/MONDO_1011958	Laron dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012393	growth-hormone deficiency dwarfism, GH1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011959	growth-hormone deficiency dwarfism,, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012394	growth-hormone deficiency dwarfism, LOC109574543-related, zebu cattle	http://purl.obolibrary.org/obo/MONDO_1011959	growth-hormone deficiency dwarfism,, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012395	rupture of the cranial cruciate ligament, dog	http://purl.obolibrary.org/obo/MONDO_1011960	rupture of the cranial cruciate ligament, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012420	brachygnathia, cardiomegaly and renal hypoplasia syndrome, OBSL1-related, sheep	http://purl.obolibrary.org/obo/MONDO_1011961	brachygnathia, cardiomegaly and renal hypoplasia syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012423	vitamin D-deficiency rickets, non-type I, non-type II, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011962	vitamin D-deficiency rickets, non-type I, non-type II, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012433	proportionate dwarfism with inflammatory lesions, RNF11-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011963	proportionate dwarfism with inflammatory lesions, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012465	idiopathic congenital chondrodystrophy, cattle	http://purl.obolibrary.org/obo/MONDO_1011964	idiopathic congenital chondrodystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012485	skeletal dysplasia with craniofacial deformity and disproportionate dwarfism, sheep	http://purl.obolibrary.org/obo/MONDO_1011966	skeletal dysplasia with craniofacial deformity and disproportionate dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012490	vertebral and spinal dysplasia, TBXT-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011967	vertebral and spinal dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012491	lethal arthrogryposis syndrome, PIGH-related, cattle	http://purl.obolibrary.org/obo/MONDO_1011968	lethal arthrogryposis syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012496	Dahlem dwarfism, rabbit	http://purl.obolibrary.org/obo/MONDO_1011969	Dahlem dwarfism, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012549	asymmetrical occipital condylar dysplasia, sheep	http://purl.obolibrary.org/obo/MONDO_1011970	asymmetrical occipital condylar dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012551	caudal cruciate ligament disease, dog	http://purl.obolibrary.org/obo/MONDO_1011971	caudal cruciate ligament disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012562	osteochondromatosis, horse	http://purl.obolibrary.org/obo/MONDO_1011972	osteochondromatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012563	osteochondromatosis, pig	http://purl.obolibrary.org/obo/MONDO_1011972	osteochondromatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012573	pyknodysostosis, CTSK-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011973	pyknodysostosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012012	aniridia with cataract, horse	http://purl.obolibrary.org/obo/MONDO_1011974	aniridia with cataract, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012031	congenital blindness, pig	http://purl.obolibrary.org/obo/MONDO_1011975	congenital blindness, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012051	Collie eye anomaly, NHEJ1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011976	Collie eye anomaly, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012226	progressive retinal atrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012227	progressive retinal atrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012228	progressive retinal atrophy, sheep	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1011986	progressive rod-cone degeneration, non-human animal	http://purl.obolibrary.org/obo/MONDO_1011977	progressive retinal atrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012239	central retinal degeneration, cheetah	http://purl.obolibrary.org/obo/MONDO_1011978	central retinal degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012240	central retinal degeneration, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011978	central retinal degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012241	retinal dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011979	retinal dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012242	retinal dystrophy, dog	http://purl.obolibrary.org/obo/MONDO_1011980	retinal dystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012243	retinal dystrophy, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011980	retinal dystrophy, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012244	rod-cone degeneration, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1011981	rod-cone degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012245	rod-cone degeneration, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011981	rod-cone degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012246	rod-cone dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011982	rod-cone dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012247	rod-cone dysplasia, CRX-related, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011982	rod-cone dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012263	tapetal degeneration, dog	http://purl.obolibrary.org/obo/MONDO_1011983	tapetal degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012317	retinal and skeletal dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011984	retinal and skeletal dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012358	early retinal degeneration, STK38L-related, dog	http://purl.obolibrary.org/obo/MONDO_1011985	early retinal degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012359	progressive rod-cone degeneration, PRCD-related, dog	http://purl.obolibrary.org/obo/MONDO_1011986	progressive rod-cone degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012362	photoreceptor dysplasia, PPT1-related, dog	http://purl.obolibrary.org/obo/MONDO_1011987	photoreceptor dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012373	retinal dysplasia and degeneration, MPDZ-related, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012374	blindness with enlarged globe, chicken	http://purl.obolibrary.org/obo/MONDO_0024905	bird disease		
http://purl.obolibrary.org/obo/MONDO_1012382	retinal dysplasia and persistent primary vitreous, dog	http://purl.obolibrary.org/obo/MONDO_1011990	retinal dysplasia and persistent primary vitreous, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012431	rod dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011991	rod dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012432	congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, FAM83H-related, dog	http://purl.obolibrary.org/obo/MONDO_1011992	congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012436	lacrimal fistula, cattle	http://purl.obolibrary.org/obo/MONDO_1011993	lacrimal fistula, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012437	fluoroquinolone-induced retinal degeneration, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011994	fluoroquinolone-induced retinal degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012447	gyrate atrophy of choroid and retina, domestic cat	http://purl.obolibrary.org/obo/MONDO_1011995	gyrate atrophy of choroid and retina, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012455	ocular melanosis, dog	http://purl.obolibrary.org/obo/MONDO_1011996	ocular melanosis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012475	recurrent uveitis, horse	http://purl.obolibrary.org/obo/MONDO_1011997	recurrent uveitis, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012498	primary open angle glaucoma, dog	http://purl.obolibrary.org/obo/MONDO_1011998	primary open angle glaucoma, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012515	pectinate ligament dysplasia, dog	http://purl.obolibrary.org/obo/MONDO_1011999	pectinate ligament dysplasia, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012523	sudden acquired retinal degeneration syndrome, dog	http://purl.obolibrary.org/obo/MONDO_1012000	sudden acquired retinal degeneration syndrome, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012526	bilateral corneal stromal loss, horse	http://purl.obolibrary.org/obo/MONDO_1012001	bilateral corneal stromal loss, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012547	vitreous degeneration, dog	http://purl.obolibrary.org/obo/MONDO_1012002	vitreous degeneration, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012566	corneal sequestra, domestic cat	http://purl.obolibrary.org/obo/MONDO_1012003	corneal sequestra, non-human animal		
http://purl.obolibrary.org/obo/MONDO_1012567	osseous choristoma of the ciliary body, domestic guinea pig	http://purl.obolibrary.org/obo/MONDO_1012004	osseous choristoma of the ciliary body, non-human animal		
http://purl.obolibrary.org/obo/NCBITaxon_186938	Respirovirus	http://purl.obolibrary.org/obo/NCBITaxon_3152209	Feraresvirinae		
http://purl.obolibrary.org/obo/MONDO_0030263	leukodystrophy, hypomyelinating, 21	http://purl.obolibrary.org/obo/MONDO_0700282	POLR3-related leukodystrophy		
http://purl.obolibrary.org/obo/CL_0000649	spinous cell of epidermis	http://purl.obolibrary.org/obo/CL_4052061	epidermal keratinocyte		
http://purl.obolibrary.org/obo/ENVO_01000034	oceanic sea surface microlayer biome	http://purl.obolibrary.org/obo/ENVO_01000033	oceanic pelagic zone biome		
http://purl.obolibrary.org/obo/ENVO_01001091	formation of a liquid aerosol from gaseous material in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001087	formation of a liquid aerosol in an atmosphere		
http://purl.obolibrary.org/obo/MONDO_0013714	mannose-binding lectin deficiency	http://purl.obolibrary.org/obo/MONDO_0044209	disorder of lectin complement activation pathway		
http://purl.obolibrary.org/obo/MONDO_0013467	immunodeficiency due to ficolin3 deficiency	http://purl.obolibrary.org/obo/MONDO_0044209	disorder of lectin complement activation pathway		
http://purl.obolibrary.org/obo/MONDO_0013726	encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014905	encephalopathy due to defective mitochondrial and peroxisomal fission 2	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/UBERON_0036303	vasculature of central nervous system	http://purl.obolibrary.org/obo/UBERON_0036302	vasculature of central nervous system plus retina		
http://purl.obolibrary.org/obo/UBERON_0001133	cardiac muscle tissue	http://purl.obolibrary.org/obo/UBERON_8600006	visceral striated muscle tissue		
http://purl.obolibrary.org/obo/MONDO_0012051	periodontitis, aggressive, 2	http://purl.obolibrary.org/obo/MONDO_0980757	periodontitis, aggressive		
http://purl.obolibrary.org/obo/MONDO_0013088	follicular lymphoma, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0980759	follicular lymphoma, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0700390	follicular lymphoma, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0980759	follicular lymphoma, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0033554	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0033555	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0700393	idiopathic triglyceride deposit cardiomyovasculopathy	http://purl.obolibrary.org/obo/MONDO_0979259	triglyceride deposit cardiomyovasculopathy		
http://purl.obolibrary.org/obo/MONDO_0011820	scoliosis, isolated, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0980764	scoliosis, isolated, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012115	scoliosis, isolated, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0980764	scoliosis, isolated, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012826	scoliosis, isolated, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0980764	scoliosis, isolated, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012827	scoliosis, isolated, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0980764	scoliosis, isolated, susceptibility to		
http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0099177	regulation of trans-synaptic signaling		
http://purl.obolibrary.org/obo/MONDO_0020648	rubella encephalitis	http://purl.obolibrary.org/obo/MONDO_0020068	postinfectious encephalitis		
http://purl.obolibrary.org/obo/MONDO_0041052	postherpetic neuralgia	http://purl.obolibrary.org/obo/MONDO_0021677	post-infectious neuralgia		
http://purl.obolibrary.org/obo/MONDO_0971130	choroidal osteoma	http://purl.obolibrary.org/obo/MONDO_0021487	benign neoplasm of choroid		
http://purl.obolibrary.org/obo/MONDO_0957279	auditory neuropathy, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0021944	auditory neuropathy		
http://purl.obolibrary.org/obo/MONDO_0859235	auditory neuropathy, autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0021944	auditory neuropathy		
http://purl.obolibrary.org/obo/MONDO_0017781	12p12.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0022174	chromosome 12p deletion		
http://purl.obolibrary.org/obo/MONDO_0043096	holoacardius amorphus	http://purl.obolibrary.org/obo/MONDO_0022357	congenital acardia		
http://purl.obolibrary.org/obo/MONDO_0022673	autosomal dominant non-nuclear cataract	http://purl.obolibrary.org/obo/MONDO_0022672	autosomal dominant cataract		
http://purl.obolibrary.org/obo/MONDO_0013415	chromosome 17p13.1 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0022754	chromosome 17p deletion		
http://purl.obolibrary.org/obo/MONDO_0014701	spondyloepiphyseal dysplasia, Stanescu type	http://purl.obolibrary.org/obo/MONDO_0100602	COL2A1-related spondyloepiphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0022826	congenital cystic eye multiple ocular and intracranial anomalies	http://purl.obolibrary.org/obo/MONDO_0022825	congenital cystic eye		
http://purl.obolibrary.org/obo/MONDO_0850048	classic eosinophilic pustular folliculitis	http://purl.obolibrary.org/obo/MONDO_0023076	eosinophilic pustular folliculitis		
http://purl.obolibrary.org/obo/MONDO_0017628	myospherulosis	http://purl.obolibrary.org/obo/MONDO_0023369	disorder of facial skeleton		
http://purl.obolibrary.org/obo/MONDO_0008950	cerebral sclerosis similar to Pelizaeus-Merzbacher disease	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0009585	encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0011557	radiation sensitivity/chromosome instability syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0018316	fatal post-viral neurodegenerative disorder	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0018475	PRKAR1B-related neurodegenerative dementia with intermediate filaments	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		
http://purl.obolibrary.org/obo/MONDO_0018705	infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0957211	neurodegeneration and seizures due to copper transport defect	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0957225	neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0030028	neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0033546	neurodegeneration, infantile-onset, biotin-responsive	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0700288	early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0030947	neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0031006	neurodegeneration with ataxia and late-onset optic atrophy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0976236	neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0032650	neurodegeneration, childhood-onset, with cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0032758	neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0007104	amyotrophic lateral sclerosis-parkinsonism-dementia complex	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0014719	developmental and epileptic encephalopathy, 35	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014940	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0014960	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030923	frontotemporal dementia and/or amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0859241	neurodegeneration, childhood-onset, with progressive microcephaly	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0859304	neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction	http://purl.obolibrary.org/obo/MONDO_0024237	inherited neurodegenerative disorder		
http://purl.obolibrary.org/obo/MONDO_0023039	eccrine mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0024240	eccrine carcinoma		
http://purl.obolibrary.org/obo/MONDO_0010869	motor neuron disease with dementia and ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0024257	hereditary motor neuron disease		
http://purl.obolibrary.org/obo/MONDO_0023149	infection due to clostridium perfringens	http://purl.obolibrary.org/obo/MONDO_0024388	Clostridium infectious disease		
http://purl.obolibrary.org/obo/MONDO_0011954	melanoma, cutaneous malignant, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma		
http://purl.obolibrary.org/obo/MONDO_0012183	melanoma, cutaneous malignant, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma		
http://purl.obolibrary.org/obo/MONDO_0012842	melanoma, cutaneous malignant, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma		
http://purl.obolibrary.org/obo/MONDO_0013133	melanoma, cutaneous malignant, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma		
http://purl.obolibrary.org/obo/MONDO_0013510	melanoma, cutaneous malignant, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0024462	susceptibility to familial cutaneous melanoma		
http://purl.obolibrary.org/obo/MONDO_0014056	melanoma, cutaneous malignant, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013192	spondyloarthropathy, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0024512	spondyloarthropathy, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0800347	cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0800371	cardiomyopathy, familial restrictive, 5	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0958241	cardiomyopathy, familial hypertrophic, 30, atrial	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0030317	cardiomyopathy, familial hypertrophic, 28	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0054838	cardiomyopathy, familial hypertrophic 27	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0979573	cardiomyopathy, familial hypertrophic, 31	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0859372	cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	http://purl.obolibrary.org/obo/MONDO_0024573	familial hypertrophic cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0024495	tumor grade 1 or 2, general grading system	http://purl.obolibrary.org/obo/MONDO_0024489	general tumor grading characteristic		
http://purl.obolibrary.org/obo/MONDO_0024490	tumor grade X, general grading system	http://purl.obolibrary.org/obo/MONDO_0024489	general tumor grading characteristic		
http://purl.obolibrary.org/obo/GO_0000768	syncytium formation by cell-cell fusion	http://purl.obolibrary.org/obo/GO_0140253	cell-cell fusion		
http://purl.obolibrary.org/obo/NCBITaxon_11632	Retroviridae	http://purl.obolibrary.org/obo/NCBITaxon_2169561	Ortervirales		
http://purl.obolibrary.org/obo/HP_0000072	Hydroureter	http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology		
http://purl.obolibrary.org/obo/HP_0000073	Ureteral duplication	http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology		
http://purl.obolibrary.org/obo/HP_0005999	Ureteral atresia	http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology		
http://purl.obolibrary.org/obo/HP_0012300	Ureteral agenesis	http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology		
http://purl.obolibrary.org/obo/HP_0032464	Ureteral hypoplasia	http://purl.obolibrary.org/obo/HP_0025633	Abnormal ureter morphology		
http://purl.obolibrary.org/obo/HP_0006000	Ureteral obstruction	http://purl.obolibrary.org/obo/HP_0025634	Abnormal ureter physiology		
http://purl.obolibrary.org/obo/MONDO_0018654	idiopathic dropped head syndrome	http://purl.obolibrary.org/obo/MONDO_0016105	acquired skeletal muscle disease		
http://purl.obolibrary.org/obo/MONDO_0030473	developmental and epileptic encephalopathy 99	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0011101	peroxisome biogenesis disorder 1B	http://purl.obolibrary.org/obo/MONDO_0100259	peroxisome biogenesis disorder due to PEX1 defect		
http://purl.obolibrary.org/obo/MONDO_0013995	cholestasis, intrahepatic, of pregnancy, 3	http://purl.obolibrary.org/obo/MONDO_0017290	familial intrahepatic cholestasis		
http://purl.obolibrary.org/obo/MONDO_0981032	neurodevelopmental disorder with seizures and impaired intellectual and language development	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0981163	Ebstein-Bezieau neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0981165	Luo-Agrawal neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0976130	neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0016210	alternating hemiplegia	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859188	neurodevelopmental disorder with seizures and brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859221	Yoon-Bellen neurodevelopmental syndrome	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859287	neurodevelopmental disorder with microcephaly, hypotonia, and absent language	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0859296	neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	http://purl.obolibrary.org/obo/MONDO_0700092	neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0013927	peroxisome biogenesis disorder 3A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100266	peroxisome biogenesis disorder due to PEX12 defect		
http://purl.obolibrary.org/obo/MONDO_0800364	peroxisome biogenesis disorder, complementation group 3	http://purl.obolibrary.org/obo/MONDO_0100266	peroxisome biogenesis disorder due to PEX12 defect		
http://purl.obolibrary.org/obo/MONDO_0013156	muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	http://purl.obolibrary.org/obo/MONDO_0000172	muscular dystrophy-dystroglycanopathy, type B		
http://purl.obolibrary.org/obo/MONDO_0013155	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	http://purl.obolibrary.org/obo/MONDO_0000172	muscular dystrophy-dystroglycanopathy, type B		
http://purl.obolibrary.org/obo/MONDO_0013159	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1	http://purl.obolibrary.org/obo/MONDO_0000172	muscular dystrophy-dystroglycanopathy, type B		
http://purl.obolibrary.org/obo/MONDO_0018007	mosaic genome-wide paternal uniparental disomy	http://purl.obolibrary.org/obo/MONDO_0700086	uniparental disomy		
http://purl.obolibrary.org/obo/MONDO_0013932	peroxisome biogenesis disorder 5A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100260	peroxisome biogenesis disorder due to PEX2 defect		
http://purl.obolibrary.org/obo/MONDO_0013933	peroxisome biogenesis disorder 5B	http://purl.obolibrary.org/obo/MONDO_0100260	peroxisome biogenesis disorder due to PEX2 defect		
http://purl.obolibrary.org/obo/MONDO_0013948	peroxisome biogenesis disorder 10A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100261	peroxisome biogenesis disorder due to PEX3 defect		
http://purl.obolibrary.org/obo/MONDO_0013930	peroxisome biogenesis disorder 4A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100263	peroxisome biogenesis disorder due to PEX6 defect		
http://purl.obolibrary.org/obo/MONDO_0013936	peroxisome biogenesis disorder 6A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100264	peroxisome biogenesis disorder due to PEX10 defect		
http://purl.obolibrary.org/obo/MONDO_0013937	peroxisome biogenesis disorder 6B	http://purl.obolibrary.org/obo/MONDO_0100264	peroxisome biogenesis disorder due to PEX10 defect		
http://purl.obolibrary.org/obo/MONDO_0013949	peroxisome biogenesis disorder 11A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100267	peroxisome biogenesis disorder due to PEX13 defect		
http://purl.obolibrary.org/obo/MONDO_0013950	peroxisome biogenesis disorder 11B	http://purl.obolibrary.org/obo/MONDO_0100267	peroxisome biogenesis disorder due to PEX13 defect		
http://purl.obolibrary.org/obo/MONDO_0013952	peroxisome biogenesis disorder 13A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100268	peroxisome biogenesis disorder due to PEX14 defect		
http://purl.obolibrary.org/obo/MONDO_0800365	peroxisome biogenesis disorder, complementation group K	http://purl.obolibrary.org/obo/MONDO_0100268	peroxisome biogenesis disorder due to PEX14 defect		
http://purl.obolibrary.org/obo/MONDO_0013942	peroxisome biogenesis disorder 8A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100269	peroxisome biogenesis disorder due to PEX16 defect		
http://purl.obolibrary.org/obo/MONDO_0013943	peroxisome biogenesis disorder 8B	http://purl.obolibrary.org/obo/MONDO_0100269	peroxisome biogenesis disorder due to PEX16 defect		
http://purl.obolibrary.org/obo/MONDO_0013951	peroxisome biogenesis disorder 12A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100270	peroxisome biogenesis disorder due to PEX19 defect		
http://purl.obolibrary.org/obo/MONDO_0013938	peroxisome biogenesis disorder 7A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0100271	peroxisome biogenesis disorder due to PEX26 defect		
http://purl.obolibrary.org/obo/MONDO_0013939	peroxisome biogenesis disorder 7B	http://purl.obolibrary.org/obo/MONDO_0100271	peroxisome biogenesis disorder due to PEX26 defect		
http://purl.obolibrary.org/obo/MONDO_0013967	peroxisome biogenesis disorder 14B	http://purl.obolibrary.org/obo/MONDO_0100279	peroxisome biogenesis disorder due to PEX11B defect		
http://purl.obolibrary.org/obo/MONDO_0019233	disorder of peroxisomal beta oxidation	http://purl.obolibrary.org/obo/MONDO_0100257	peroxisomal single enzyme/protein defect		
http://purl.obolibrary.org/obo/MONDO_0017703	disorder of glyoxylate metabolism	http://purl.obolibrary.org/obo/MONDO_0100257	peroxisomal single enzyme/protein defect		
http://purl.obolibrary.org/obo/MONDO_0025708	megacystis-microcolon-intestinal hypoperistalsis syndrome 2	http://purl.obolibrary.org/obo/MONDO_0025986	megacystis-microcolon-intestinal hypoperistalsis syndrome		
http://purl.obolibrary.org/obo/MONDO_0030294	megacystis-microcolon-intestinal hypoperistalsis syndrome 3	http://purl.obolibrary.org/obo/MONDO_0025986	megacystis-microcolon-intestinal hypoperistalsis syndrome		
http://purl.obolibrary.org/obo/MONDO_0030296	megacystis-microcolon-intestinal hypoperistalsis syndrome 4	http://purl.obolibrary.org/obo/MONDO_0025986	megacystis-microcolon-intestinal hypoperistalsis syndrome		
http://purl.obolibrary.org/obo/MONDO_0030329	megacystis-microcolon-intestinal hypoperistalsis syndrome 5	http://purl.obolibrary.org/obo/MONDO_0025986	megacystis-microcolon-intestinal hypoperistalsis syndrome		
http://purl.obolibrary.org/obo/MONDO_0100354	megacystis-microcolon-intestinal hypoperistalsis syndrome 1	http://purl.obolibrary.org/obo/MONDO_0025986	megacystis-microcolon-intestinal hypoperistalsis syndrome		
http://purl.obolibrary.org/obo/HP_0009058	Increased muscle lipid content	http://purl.obolibrary.org/obo/HP_0034370	Abnormal muscle tissue metabolite concentration		
http://purl.obolibrary.org/obo/CL_4042035	molecular layer interneuron	http://purl.obolibrary.org/obo/CL_4023057	cerebellar inhibitory GABAergic interneuron		
http://purl.obolibrary.org/obo/CL_0000119	cerebellar Golgi cell	http://purl.obolibrary.org/obo/CL_4023057	cerebellar inhibitory GABAergic interneuron		
http://purl.obolibrary.org/obo/UBERON_0015474	axilla skin	http://purl.obolibrary.org/obo/UBERON_8480025	skin of clavicle region		
http://purl.obolibrary.org/obo/MONDO_0027652	5-fluorouracil toxicity	http://purl.obolibrary.org/obo/MONDO_0800390	chemotherapy-induced toxicity		
http://purl.obolibrary.org/obo/MONDO_0027664	cisplatin toxicity	http://purl.obolibrary.org/obo/MONDO_0800390	chemotherapy-induced toxicity		
http://purl.obolibrary.org/obo/MONDO_0027675	irinotecan toxicity	http://purl.obolibrary.org/obo/MONDO_0800390	chemotherapy-induced toxicity		
http://purl.obolibrary.org/obo/MONDO_0034212	methotrexate toxicity	http://purl.obolibrary.org/obo/MONDO_0800390	chemotherapy-induced toxicity		
http://purl.obolibrary.org/obo/NCBITaxon_11089	Yellow fever virus	http://purl.obolibrary.org/obo/NCBITaxon_3046277	Orthoflavivirus flavi		
http://purl.obolibrary.org/obo/NCBITaxon_11072	Japanese encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3048158	Orthoflavivirus japonicum		
http://purl.obolibrary.org/obo/NCBITaxon_11086	Louping ill virus	http://purl.obolibrary.org/obo/NCBITaxon_3048184	Orthoflavivirus loupingi		
http://purl.obolibrary.org/obo/NCBITaxon_11079	Murray Valley encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3048215	Orthoflavivirus murrayense		
http://purl.obolibrary.org/obo/NCBITaxon_11083	Powassan virus	http://purl.obolibrary.org/obo/NCBITaxon_3048287	Orthoflavivirus powassanense		
http://purl.obolibrary.org/obo/NCBITaxon_11082	West Nile virus	http://purl.obolibrary.org/obo/NCBITaxon_3048448	Orthoflavivirus nilense		
http://purl.obolibrary.org/obo/NCBITaxon_11320	Influenza A virus	http://purl.obolibrary.org/obo/NCBITaxon_2955291	Alphainfluenzavirus influenzae		
http://purl.obolibrary.org/obo/NCBITaxon_11216	Human respirovirus 3	http://purl.obolibrary.org/obo/NCBITaxon_3049953	Respirovirus pneumoniae		
http://purl.obolibrary.org/obo/NCBITaxon_11250	human respiratory syncytial virus	http://purl.obolibrary.org/obo/NCBITaxon_3049954	Orthopneumovirus hominis		
http://purl.obolibrary.org/obo/NCBITaxon_11577	La Crosse virus	http://purl.obolibrary.org/obo/NCBITaxon_3052409	Orthobunyavirus lacrosseense		
http://purl.obolibrary.org/obo/NCBITaxon_118655	Oropouche virus	http://purl.obolibrary.org/obo/NCBITaxon_3052429	Orthobunyavirus oropoucheense		
http://purl.obolibrary.org/obo/NCBITaxon_12542	Omsk hemorrhagic fever virus	http://purl.obolibrary.org/obo/NCBITaxon_3048233	Orthoflavivirus omskense		
http://purl.obolibrary.org/obo/NCBITaxon_12730	Human respirovirus 1	http://purl.obolibrary.org/obo/NCBITaxon_3049952	Respirovirus laryngotracheitidis		
http://purl.obolibrary.org/obo/NCBITaxon_213849	Campylobacterales	http://purl.obolibrary.org/obo/NCBITaxon_3031852	Epsilonproteobacteria		
http://purl.obolibrary.org/obo/NCBITaxon_2560319	avian paramyxovirus 1	http://purl.obolibrary.org/obo/NCBITaxon_3051375	Orthoavulavirus javaense		
http://purl.obolibrary.org/obo/NCBITaxon_28314	Aleutian mink disease parvovirus	http://purl.obolibrary.org/obo/NCBITaxon_3051624	Amdoparvovirus carnivoran1		
http://purl.obolibrary.org/obo/MONDO_0007709	hematuria, benign familial, 1	http://purl.obolibrary.org/obo/MONDO_0957317	hematuria, benign familial		
http://purl.obolibrary.org/obo/MONDO_0023910	Martsolf syndrome	http://purl.obolibrary.org/obo/MONDO_0700247	RAB18 deficiency		
http://purl.obolibrary.org/obo/HP_0003119	Abnormal circulating lipid concentration	http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration		
http://purl.obolibrary.org/obo/HP_0004354	Abnormal circulating carboxylic acid concentration	http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration		
http://purl.obolibrary.org/obo/HP_0004364	Abnormal circulating nitrogen compound concentration	http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration		
http://purl.obolibrary.org/obo/HP_0011013	Abnormal circulating carbohydrate concentration	http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration		
http://purl.obolibrary.org/obo/HP_0012113	Abnormal circulating creatine concentration	http://purl.obolibrary.org/obo/HP_0430071	Abnormal circulating organic compound concentration		
http://purl.obolibrary.org/obo/HP_0100851	Abnormal emotional state	http://purl.obolibrary.org/obo/HP_0025766	Abnormal affect		
http://purl.obolibrary.org/obo/NCBITaxon_2916678	Serinales	http://purl.obolibrary.org/obo/NCBITaxon_3239874	Pichiomycetes		
http://purl.obolibrary.org/obo/MONDO_0026721	mitochondrial complex I deficiency, nuclear type 30	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/UBERON_0016511	lamina propria of fundus of stomach	http://purl.obolibrary.org/obo/UBERON_8600138	stomach lamina propria		
http://purl.obolibrary.org/obo/NCBITaxon_2842321	Kolmioviridae	http://purl.obolibrary.org/obo/NCBITaxon_3471199	Ribozyviria incertae sedis		
http://purl.obolibrary.org/obo/CL_0000948	IgE memory B cell	http://purl.obolibrary.org/obo/CL_4052108	IgD-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0000973	IgA memory B cell	http://purl.obolibrary.org/obo/CL_4052108	IgD-negative class switched memory B cell		
http://purl.obolibrary.org/obo/CL_0002117	IgG-negative class switched memory B cell	http://purl.obolibrary.org/obo/CL_4052108	IgD-negative class switched memory B cell		
http://purl.obolibrary.org/obo/GO_0045911	positive regulation of DNA recombination	http://purl.obolibrary.org/obo/GO_0051054	positive regulation of DNA metabolic process		
http://purl.obolibrary.org/obo/GO_0045191	regulation of isotype switching	http://purl.obolibrary.org/obo/GO_0050864	regulation of B cell activation		
http://purl.obolibrary.org/obo/GO_0006826	iron ion transport	http://purl.obolibrary.org/obo/GO_0000041	transition metal ion transport		
http://purl.obolibrary.org/obo/GO_0006555	L-methionine metabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0000098	sulfur amino acid catabolic process	http://purl.obolibrary.org/obo/GO_0046395	carboxylic acid catabolic process		
http://purl.obolibrary.org/obo/GO_0050667	homocysteine metabolic process	http://purl.obolibrary.org/obo/GO_0170041	non-proteinogenic amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_1902850	microtubule cytoskeleton organization involved in mitosis	http://purl.obolibrary.org/obo/GO_1903047	mitotic cell cycle process		
http://purl.obolibrary.org/obo/GO_0001578	microtubule bundle formation	http://purl.obolibrary.org/obo/GO_0000226	microtubule cytoskeleton organization		
http://purl.obolibrary.org/obo/CHR_9606-chr1	chromosome 1 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr10	chromosome 10 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr11	chromosome 11 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr12	chromosome 12 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr13	chromosome 13 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr14	chromosome 14 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr15	chromosome 15 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr16	chromosome 16 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr17	chromosome 17 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr18	chromosome 18 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr19	chromosome 19 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr2	chromosome 2 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr20	chromosome 20 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr21	chromosome 21 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr22	chromosome 22 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr3	chromosome 3 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr4	chromosome 4 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr5	chromosome 5 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr6	chromosome 6 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr7	chromosome 7 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr8	chromosome 8 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chr9	chromosome 9 (Human)	http://purl.obolibrary.org/obo/GO_0030849	autosome		
http://purl.obolibrary.org/obo/CHR_9606-chrX	chromosome X (Human)	http://purl.obolibrary.org/obo/GO_0000805	X chromosome		
http://purl.obolibrary.org/obo/CHR_9606-chrY	chromosome Y (Human)	http://purl.obolibrary.org/obo/GO_0000806	Y chromosome		
http://purl.obolibrary.org/obo/GO_0102175	3-beta-hydroxysteroid dehydrogenase (NAD+)/C4-decarboxylase activity	http://purl.obolibrary.org/obo/GO_0000252	3-beta-hydroxysteroid dehydrogenase [NAD(P)+]/C4-decarboxylase activity		
http://purl.obolibrary.org/obo/CHR_9606-chrM	chromosome M (Human)	http://purl.obolibrary.org/obo/GO_0000262	mitochondrial chromosome		
http://purl.obolibrary.org/obo/GO_0093001	glycolysis from storage polysaccharide through glucose-1-phosphate	http://purl.obolibrary.org/obo/GO_0061622	glycolytic process through glucose-1-phosphate		
http://purl.obolibrary.org/obo/GO_0007113	endomitotic cell cycle	http://purl.obolibrary.org/obo/GO_0000278	mitotic cell cycle		
http://purl.obolibrary.org/obo/GO_0140014	mitotic nuclear division	http://purl.obolibrary.org/obo/GO_1903047	mitotic cell cycle process		
http://purl.obolibrary.org/obo/GO_0005761	mitochondrial ribosome	http://purl.obolibrary.org/obo/GO_0000313	organellar ribosome		
http://purl.obolibrary.org/obo/GO_0005764	lysosome	http://purl.obolibrary.org/obo/GO_0000323	lytic vacuole		
http://purl.obolibrary.org/obo/GO_0000791	euchromatin	http://purl.obolibrary.org/obo/GO_0000785	chromatin		
http://purl.obolibrary.org/obo/GO_0000792	heterochromatin	http://purl.obolibrary.org/obo/GO_0000785	chromatin		
http://purl.obolibrary.org/obo/GO_0001739	sex chromatin	http://purl.obolibrary.org/obo/GO_0000792	heterochromatin		
http://purl.obolibrary.org/obo/CL_0017508	cartwheel heterochromatin	http://purl.obolibrary.org/obo/GO_0000792	heterochromatin		
http://purl.obolibrary.org/obo/GO_0000805	X chromosome	http://purl.obolibrary.org/obo/GO_0000803	sex chromosome		
http://purl.obolibrary.org/obo/GO_0000806	Y chromosome	http://purl.obolibrary.org/obo/GO_0000803	sex chromosome		
http://purl.obolibrary.org/obo/GO_0000070	mitotic sister chromatid segregation	http://purl.obolibrary.org/obo/GO_1903047	mitotic cell cycle process		
http://purl.obolibrary.org/obo/GO_0048667	cell morphogenesis involved in neuron differentiation	http://purl.obolibrary.org/obo/GO_0000902	cell morphogenesis		
http://purl.obolibrary.org/obo/GO_0006390	mitochondrial transcription	http://purl.obolibrary.org/obo/GO_0006351	DNA-templated transcription		
http://purl.obolibrary.org/obo/GO_0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0000976	transcription cis-regulatory region binding		
http://purl.obolibrary.org/obo/GO_0001018	mitochondrial promoter sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0000976	transcription cis-regulatory region binding		
http://purl.obolibrary.org/obo/GO_0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	http://purl.obolibrary.org/obo/GO_0001217	DNA-binding transcription repressor activity		
http://purl.obolibrary.org/obo/GO_0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	http://purl.obolibrary.org/obo/GO_0001216	DNA-binding transcription activator activity		
http://purl.obolibrary.org/obo/GO_0001001	mitochondrial single-subunit type RNA polymerase binding	http://purl.obolibrary.org/obo/GO_0001050	single-subunit type RNA polymerase binding		
http://purl.obolibrary.org/obo/GO_0000976	transcription cis-regulatory region binding	http://purl.obolibrary.org/obo/GO_1990837	sequence-specific double-stranded DNA binding		
http://purl.obolibrary.org/obo/GO_0036072	direct ossification	http://purl.obolibrary.org/obo/GO_0001503	ossification		
http://purl.obolibrary.org/obo/GO_0036075	replacement ossification	http://purl.obolibrary.org/obo/GO_0001503	ossification		
http://purl.obolibrary.org/obo/GO_0043931	ossification involved in bone maturation	http://purl.obolibrary.org/obo/GO_0001503	ossification		
http://purl.obolibrary.org/obo/GO_0043932	ossification involved in bone remodeling	http://purl.obolibrary.org/obo/GO_0001503	ossification		
http://purl.obolibrary.org/obo/GO_0100001	regulation of skeletal muscle contraction by action potential	http://purl.obolibrary.org/obo/GO_0014819	regulation of skeletal muscle contraction		
http://purl.obolibrary.org/obo/GO_0006776	vitamin A metabolic process	http://purl.obolibrary.org/obo/GO_0001523	retinoid metabolic process		
http://purl.obolibrary.org/obo/GO_0060055	angiogenesis involved in wound healing	http://purl.obolibrary.org/obo/GO_0001525	angiogenesis		
http://purl.obolibrary.org/obo/GO_0060285	cilium-dependent cell motility	http://purl.obolibrary.org/obo/GO_0001539	cilium or flagellum-dependent cell motility		
http://purl.obolibrary.org/obo/GO_0060841	venous blood vessel development	http://purl.obolibrary.org/obo/GO_0001568	blood vessel development		
http://purl.obolibrary.org/obo/GO_0060840	artery development	http://purl.obolibrary.org/obo/GO_0001568	blood vessel development		
http://purl.obolibrary.org/obo/GO_0035082	axoneme assembly	http://purl.obolibrary.org/obo/GO_0022607	cellular component assembly		
http://purl.obolibrary.org/obo/GO_0043010	camera-type eye development	http://purl.obolibrary.org/obo/GO_0001654	eye development		
http://purl.obolibrary.org/obo/GO_0070483	detection of hypoxia	http://purl.obolibrary.org/obo/GO_0003032	detection of oxygen		
http://purl.obolibrary.org/obo/GO_0042074	cell migration involved in gastrulation	http://purl.obolibrary.org/obo/GO_0001667	ameboidal-type cell migration		
http://purl.obolibrary.org/obo/GO_0090497	mesenchymal cell migration	http://purl.obolibrary.org/obo/GO_0001667	ameboidal-type cell migration		
http://purl.obolibrary.org/obo/GO_0071333	cellular response to glucose stimulus	http://purl.obolibrary.org/obo/GO_0071331	cellular response to hexose stimulus		
http://purl.obolibrary.org/obo/GO_0001705	ectoderm formation	http://purl.obolibrary.org/obo/GO_0001704	formation of primary germ layer		
http://purl.obolibrary.org/obo/GO_0001706	endoderm formation	http://purl.obolibrary.org/obo/GO_0001704	formation of primary germ layer		
http://purl.obolibrary.org/obo/GO_0001707	mesoderm formation	http://purl.obolibrary.org/obo/GO_0001704	formation of primary germ layer		
http://purl.obolibrary.org/obo/GO_0061138	morphogenesis of a branching epithelium	http://purl.obolibrary.org/obo/GO_0002009	morphogenesis of an epithelium		
http://purl.obolibrary.org/obo/GO_0002277	myeloid dendritic cell activation involved in immune response	http://purl.obolibrary.org/obo/GO_0002275	myeloid cell activation involved in immune response		
http://purl.obolibrary.org/obo/GO_0043011	myeloid dendritic cell differentiation	http://purl.obolibrary.org/obo/GO_0097028	dendritic cell differentiation		
http://purl.obolibrary.org/obo/GO_0002263	cell activation involved in immune response	http://purl.obolibrary.org/obo/GO_0002252	immune effector process		
http://purl.obolibrary.org/obo/GO_0045321	leukocyte activation	http://purl.obolibrary.org/obo/GO_0002376	immune system process		
http://purl.obolibrary.org/obo/GO_0001804	negative regulation of type III hypersensitivity	http://purl.obolibrary.org/obo/GO_0002890	negative regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0001805	positive regulation of type III hypersensitivity	http://purl.obolibrary.org/obo/GO_0002891	positive regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0001808	negative regulation of type IV hypersensitivity	http://purl.obolibrary.org/obo/GO_0002884	negative regulation of hypersensitivity		
http://purl.obolibrary.org/obo/GO_0001809	positive regulation of type IV hypersensitivity	http://purl.obolibrary.org/obo/GO_0002885	positive regulation of hypersensitivity		
http://purl.obolibrary.org/obo/GO_0001811	negative regulation of type I hypersensitivity	http://purl.obolibrary.org/obo/GO_0002890	negative regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0001812	positive regulation of type I hypersensitivity	http://purl.obolibrary.org/obo/GO_0002891	positive regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0002367	cytokine production involved in immune response	http://purl.obolibrary.org/obo/GO_0002440	production of molecular mediator of immune response		
http://purl.obolibrary.org/obo/GO_0002534	cytokine production involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0002532	production of molecular mediator involved in inflammatory response		
http://purl.obolibrary.org/obo/GO_0032609	type II interferon production	http://purl.obolibrary.org/obo/GO_0001816	cytokine production		
http://purl.obolibrary.org/obo/GO_0001819	positive regulation of cytokine production	http://purl.obolibrary.org/obo/GO_0010628	positive regulation of gene expression		
http://purl.obolibrary.org/obo/GO_0002718	regulation of cytokine production involved in immune response	http://purl.obolibrary.org/obo/GO_0002700	regulation of production of molecular mediator of immune response		
http://purl.obolibrary.org/obo/GO_0032649	regulation of type II interferon production	http://purl.obolibrary.org/obo/GO_0001817	regulation of cytokine production		
http://purl.obolibrary.org/obo/GO_1900015	regulation of cytokine production involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0001817	regulation of cytokine production		
http://purl.obolibrary.org/obo/GO_0002719	negative regulation of cytokine production involved in immune response	http://purl.obolibrary.org/obo/GO_0002718	regulation of cytokine production involved in immune response		
http://purl.obolibrary.org/obo/GO_0032689	negative regulation of type II interferon production	http://purl.obolibrary.org/obo/GO_0032649	regulation of type II interferon production		
http://purl.obolibrary.org/obo/GO_1900016	negative regulation of cytokine production involved in inflammatory response	http://purl.obolibrary.org/obo/GO_1900015	regulation of cytokine production involved in inflammatory response		
http://purl.obolibrary.org/obo/GO_0002720	positive regulation of cytokine production involved in immune response	http://purl.obolibrary.org/obo/GO_0002718	regulation of cytokine production involved in immune response		
http://purl.obolibrary.org/obo/GO_0032729	positive regulation of type II interferon production	http://purl.obolibrary.org/obo/GO_0032649	regulation of type II interferon production		
http://purl.obolibrary.org/obo/GO_1900017	positive regulation of cytokine production involved in inflammatory response	http://purl.obolibrary.org/obo/GO_1900015	regulation of cytokine production involved in inflammatory response		
http://purl.obolibrary.org/obo/GO_0002442	serotonin secretion involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0001820	serotonin secretion		
http://purl.obolibrary.org/obo/GO_0002441	histamine secretion involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0046879	hormone secretion		
http://purl.obolibrary.org/obo/GO_0001841	neural tube formation	http://purl.obolibrary.org/obo/GO_0001838	embryonic epithelial tube formation		
http://purl.obolibrary.org/obo/GO_0014020	primary neural tube formation	http://purl.obolibrary.org/obo/GO_0001838	embryonic epithelial tube formation		
http://purl.obolibrary.org/obo/GO_0001869	negative regulation of complement activation, lectin pathway	http://purl.obolibrary.org/obo/GO_0045916	negative regulation of complement activation		
http://purl.obolibrary.org/obo/GO_0001870	positive regulation of complement activation, lectin pathway	http://purl.obolibrary.org/obo/GO_0045917	positive regulation of complement activation		
http://purl.obolibrary.org/obo/GO_0048873	homeostasis of number of cells within a tissue	http://purl.obolibrary.org/obo/GO_0048872	homeostasis of number of cells		
http://purl.obolibrary.org/obo/GO_0045453	bone resorption	http://purl.obolibrary.org/obo/GO_0001894	tissue homeostasis		
http://purl.obolibrary.org/obo/GO_0010669	epithelial structure maintenance	http://purl.obolibrary.org/obo/GO_0001894	tissue homeostasis		
http://purl.obolibrary.org/obo/GO_0001909	leukocyte mediated cytotoxicity	http://purl.obolibrary.org/obo/GO_0002443	leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0001911	negative regulation of leukocyte mediated cytotoxicity	http://purl.obolibrary.org/obo/GO_0031342	negative regulation of cell killing		
http://purl.obolibrary.org/obo/GO_0001912	positive regulation of leukocyte mediated cytotoxicity	http://purl.obolibrary.org/obo/GO_0031343	positive regulation of cell killing		
http://purl.obolibrary.org/obo/GO_0045859	regulation of protein kinase activity	http://purl.obolibrary.org/obo/GO_0043549	regulation of kinase activity		
http://purl.obolibrary.org/obo/GO_0001933	negative regulation of protein phosphorylation	http://purl.obolibrary.org/obo/GO_0042326	negative regulation of phosphorylation		
http://purl.obolibrary.org/obo/GO_0001934	positive regulation of protein phosphorylation	http://purl.obolibrary.org/obo/GO_0042327	positive regulation of phosphorylation		
http://purl.obolibrary.org/obo/GO_0014057	positive regulation of acetylcholine secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0051954	positive regulation of amine transport		
http://purl.obolibrary.org/obo/GO_1903296	positive regulation of glutamate secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0051968	positive regulation of synaptic transmission, glutamatergic		
http://purl.obolibrary.org/obo/GO_0001960	negative regulation of cytokine-mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0060761	negative regulation of response to cytokine stimulus		
http://purl.obolibrary.org/obo/GO_0001961	positive regulation of cytokine-mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0060760	positive regulation of response to cytokine stimulus		
http://purl.obolibrary.org/obo/GO_0001979	regulation of systemic arterial blood pressure by chemoreceptor signaling	http://purl.obolibrary.org/obo/GO_0001976	nervous system process involved in regulation of systemic arterial blood pressure		
http://purl.obolibrary.org/obo/GO_0003027	regulation of systemic arterial blood pressure by carotid body chemoreceptor signaling	http://purl.obolibrary.org/obo/GO_0001979	regulation of systemic arterial blood pressure by chemoreceptor signaling		
http://purl.obolibrary.org/obo/GO_0001992	regulation of systemic arterial blood pressure by vasopressin	http://purl.obolibrary.org/obo/GO_0001990	regulation of systemic arterial blood pressure by hormone		
http://purl.obolibrary.org/obo/GO_0003081	regulation of systemic arterial blood pressure by renin-angiotensin	http://purl.obolibrary.org/obo/GO_0001990	regulation of systemic arterial blood pressure by hormone		
http://purl.obolibrary.org/obo/GO_0003029	detection of hypoxic conditions in blood by carotid body chemoreceptor signaling	http://purl.obolibrary.org/obo/GO_0002007	detection of hypoxic conditions in blood by chemoreceptor signaling		
http://purl.obolibrary.org/obo/GO_0016331	morphogenesis of embryonic epithelium	http://purl.obolibrary.org/obo/GO_0048598	embryonic morphogenesis		
http://purl.obolibrary.org/obo/GO_1903251	multi-ciliated epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0002065	columnar/cuboidal epithelial cell differentiation		
http://purl.obolibrary.org/obo/GO_1903862	positive regulation of oxidative phosphorylation	http://purl.obolibrary.org/obo/GO_1901857	positive regulation of cellular respiration		
http://purl.obolibrary.org/obo/GO_0090324	negative regulation of oxidative phosphorylation	http://purl.obolibrary.org/obo/GO_1901856	negative regulation of cellular respiration		
http://purl.obolibrary.org/obo/GO_0002119	nematode larval development	http://purl.obolibrary.org/obo/GO_0002164	larval development		
http://purl.obolibrary.org/obo/GO_0002562	somatic diversification of immune receptors via germline recombination within a single locus	http://purl.obolibrary.org/obo/GO_0016444	somatic cell DNA recombination		
http://purl.obolibrary.org/obo/GO_0016445	somatic diversification of immunoglobulins	http://purl.obolibrary.org/obo/GO_0002200	somatic diversification of immune receptors		
http://purl.obolibrary.org/obo/GO_0045190	isotype switching	http://purl.obolibrary.org/obo/GO_0002312	B cell activation involved in immune response		
http://purl.obolibrary.org/obo/GO_0002204	somatic recombination of immunoglobulin genes involved in immune response	http://purl.obolibrary.org/obo/GO_0016447	somatic recombination of immunoglobulin gene segments		
http://purl.obolibrary.org/obo/GO_0002796	positive regulation of antimicrobial peptide secretion	http://purl.obolibrary.org/obo/GO_0002794	regulation of antimicrobial peptide secretion		
http://purl.obolibrary.org/obo/GO_0002460	adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	http://purl.obolibrary.org/obo/GO_0002250	adaptive immune response		
http://purl.obolibrary.org/obo/GO_0002384	hepatic immune response	http://purl.obolibrary.org/obo/GO_0002251	organ or tissue specific immune response		
http://purl.obolibrary.org/obo/GO_0002443	leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002252	immune effector process		
http://purl.obolibrary.org/obo/GO_0002522	leukocyte migration involved in immune response	http://purl.obolibrary.org/obo/GO_0050900	leukocyte migration		
http://purl.obolibrary.org/obo/GO_0006956	complement activation	http://purl.obolibrary.org/obo/GO_0006959	humoral immune response		
http://purl.obolibrary.org/obo/GO_0002757	immune response-activating signaling pathway	http://purl.obolibrary.org/obo/GO_0002764	immune response-regulating signaling pathway		
http://purl.obolibrary.org/obo/GO_0034101	erythrocyte homeostasis	http://purl.obolibrary.org/obo/GO_0002262	myeloid cell homeostasis		
http://purl.obolibrary.org/obo/GO_0002366	leukocyte activation involved in immune response	http://purl.obolibrary.org/obo/GO_0045321	leukocyte activation		
http://purl.obolibrary.org/obo/GO_0001773	myeloid dendritic cell activation	http://purl.obolibrary.org/obo/GO_0002274	myeloid leukocyte activation		
http://purl.obolibrary.org/obo/GO_0002275	myeloid cell activation involved in immune response	http://purl.obolibrary.org/obo/GO_0002366	leukocyte activation involved in immune response		
http://purl.obolibrary.org/obo/GO_0042116	macrophage activation	http://purl.obolibrary.org/obo/GO_0002274	myeloid leukocyte activation		
http://purl.obolibrary.org/obo/GO_0045576	mast cell activation	http://purl.obolibrary.org/obo/GO_0002274	myeloid leukocyte activation		
http://purl.obolibrary.org/obo/GO_0002279	mast cell activation involved in immune response	http://purl.obolibrary.org/obo/GO_0045576	mast cell activation		
http://purl.obolibrary.org/obo/GO_0002286	T cell activation involved in immune response	http://purl.obolibrary.org/obo/GO_0042110	T cell activation		
http://purl.obolibrary.org/obo/GO_0002312	B cell activation involved in immune response	http://purl.obolibrary.org/obo/GO_0042113	B cell activation		
http://purl.obolibrary.org/obo/GO_0002292	T cell differentiation involved in immune response	http://purl.obolibrary.org/obo/GO_0030217	T cell differentiation		
http://purl.obolibrary.org/obo/GO_0002313	mature B cell differentiation involved in immune response	http://purl.obolibrary.org/obo/GO_0002335	mature B cell differentiation		
http://purl.obolibrary.org/obo/GO_0002343	peripheral B cell selection	http://purl.obolibrary.org/obo/GO_0002339	B cell selection		
http://purl.obolibrary.org/obo/GO_0002344	B cell affinity maturation	http://purl.obolibrary.org/obo/GO_0002343	peripheral B cell selection		
http://purl.obolibrary.org/obo/GO_0002281	macrophage activation involved in immune response	http://purl.obolibrary.org/obo/GO_0042116	macrophage activation		
http://purl.obolibrary.org/obo/GO_0002285	lymphocyte activation involved in immune response	http://purl.obolibrary.org/obo/GO_0046649	lymphocyte activation		
http://purl.obolibrary.org/obo/GO_0002200	somatic diversification of immune receptors	http://purl.obolibrary.org/obo/GO_0002376	immune system process		
http://purl.obolibrary.org/obo/GO_0002252	immune effector process	http://purl.obolibrary.org/obo/GO_0002376	immune system process		
http://purl.obolibrary.org/obo/GO_0002253	activation of immune response	http://purl.obolibrary.org/obo/GO_0050778	positive regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002262	myeloid cell homeostasis	http://purl.obolibrary.org/obo/GO_0048872	homeostasis of number of cells		
http://purl.obolibrary.org/obo/GO_0002339	B cell selection	http://purl.obolibrary.org/obo/GO_0002376	immune system process		
http://purl.obolibrary.org/obo/GO_0002440	production of molecular mediator of immune response	http://purl.obolibrary.org/obo/GO_0010467	gene expression		
http://purl.obolibrary.org/obo/GO_0002507	tolerance induction	http://purl.obolibrary.org/obo/GO_0002376	immune system process		
http://purl.obolibrary.org/obo/GO_0002520	immune system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0019882	antigen processing and presentation	http://purl.obolibrary.org/obo/GO_0002376	immune system process		
http://purl.obolibrary.org/obo/GO_0050900	leukocyte migration	http://purl.obolibrary.org/obo/GO_0016477	cell migration		
http://purl.obolibrary.org/obo/GO_0045058	T cell selection	http://purl.obolibrary.org/obo/GO_0002376	immune system process		
http://purl.obolibrary.org/obo/GO_0002381	immunoglobulin production involved in immunoglobulin-mediated immune response	http://purl.obolibrary.org/obo/GO_0002377	immunoglobulin production		
http://purl.obolibrary.org/obo/GO_0002430	complement receptor mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0002429	immune response-activating cell surface receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0002438	acute inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002526	acute inflammatory response		
http://purl.obolibrary.org/obo/GO_0002524	hypersensitivity	http://purl.obolibrary.org/obo/GO_0002438	acute inflammatory response to antigenic stimulus		
http://purl.obolibrary.org/obo/GO_0002377	immunoglobulin production	http://purl.obolibrary.org/obo/GO_0002440	production of molecular mediator of immune response		
http://purl.obolibrary.org/obo/GO_0002775	antimicrobial peptide production	http://purl.obolibrary.org/obo/GO_0002440	production of molecular mediator of immune response		
http://purl.obolibrary.org/obo/GO_0002444	myeloid leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002443	leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0002449	lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002443	leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0001802	type III hypersensitivity	http://purl.obolibrary.org/obo/GO_0016064	immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0002445	type II hypersensitivity	http://purl.obolibrary.org/obo/GO_0016064	immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0002228	natural killer cell mediated immunity	http://purl.obolibrary.org/obo/GO_0045087	innate immune response		
http://purl.obolibrary.org/obo/GO_0002456	T cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002460	adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0019724	B cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002460	adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0001806	type IV hypersensitivity	http://purl.obolibrary.org/obo/GO_0002524	hypersensitivity		
http://purl.obolibrary.org/obo/GO_0002461	tolerance induction dependent upon immune response	http://purl.obolibrary.org/obo/GO_0002507	tolerance induction		
http://purl.obolibrary.org/obo/GO_0042088	T-helper 1 type immune response	http://purl.obolibrary.org/obo/GO_0002460	adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002465	peripheral tolerance induction	http://purl.obolibrary.org/obo/GO_0002461	tolerance induction dependent upon immune response		
http://purl.obolibrary.org/obo/GO_0002573	myeloid leukocyte differentiation	http://purl.obolibrary.org/obo/GO_0030099	myeloid cell differentiation		
http://purl.obolibrary.org/obo/GO_1903131	mononuclear cell differentiation	http://purl.obolibrary.org/obo/GO_0002521	leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0002233	leukocyte chemotaxis involved in immune response	http://purl.obolibrary.org/obo/GO_0030595	leukocyte chemotaxis		
http://purl.obolibrary.org/obo/GO_0002232	leukocyte chemotaxis involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0030595	leukocyte chemotaxis		
http://purl.obolibrary.org/obo/GO_0016068	type I hypersensitivity	http://purl.obolibrary.org/obo/GO_0016064	immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0002349	histamine production involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0002532	production of molecular mediator involved in inflammatory response		
http://purl.obolibrary.org/obo/GO_0002351	serotonin production involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0002532	production of molecular mediator involved in inflammatory response		
http://purl.obolibrary.org/obo/GO_0002538	arachidonate metabolite production involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0002532	production of molecular mediator involved in inflammatory response		
http://purl.obolibrary.org/obo/GO_0002539	prostaglandin production involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0002538	arachidonate metabolite production involved in inflammatory response		
http://purl.obolibrary.org/obo/GO_0016447	somatic recombination of immunoglobulin gene segments	http://purl.obolibrary.org/obo/GO_0016445	somatic diversification of immunoglobulins		
http://purl.obolibrary.org/obo/GO_0033151	V(D)J recombination	http://purl.obolibrary.org/obo/GO_0002562	somatic diversification of immune receptors via germline recombination within a single locus		
http://purl.obolibrary.org/obo/GO_0030224	monocyte differentiation	http://purl.obolibrary.org/obo/GO_1903131	mononuclear cell differentiation		
http://purl.obolibrary.org/obo/GO_0030316	osteoclast differentiation	http://purl.obolibrary.org/obo/GO_0002573	myeloid leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0030851	granulocyte differentiation	http://purl.obolibrary.org/obo/GO_0002573	myeloid leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0030225	macrophage differentiation	http://purl.obolibrary.org/obo/GO_1903131	mononuclear cell differentiation		
http://purl.obolibrary.org/obo/GO_0060374	mast cell differentiation	http://purl.obolibrary.org/obo/GO_0002573	myeloid leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0002578	negative regulation of antigen processing and presentation	http://purl.obolibrary.org/obo/GO_0002683	negative regulation of immune system process		
http://purl.obolibrary.org/obo/GO_0002579	positive regulation of antigen processing and presentation	http://purl.obolibrary.org/obo/GO_0002684	positive regulation of immune system process		
http://purl.obolibrary.org/obo/GO_0002580	regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	http://purl.obolibrary.org/obo/GO_0002577	regulation of antigen processing and presentation		
http://purl.obolibrary.org/obo/GO_0002581	negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	http://purl.obolibrary.org/obo/GO_0002580	regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II		
http://purl.obolibrary.org/obo/GO_0002582	positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	http://purl.obolibrary.org/obo/GO_0002580	regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II		
http://purl.obolibrary.org/obo/GO_0002638	negative regulation of immunoglobulin production	http://purl.obolibrary.org/obo/GO_0002701	negative regulation of production of molecular mediator of immune response		
http://purl.obolibrary.org/obo/GO_0002639	positive regulation of immunoglobulin production	http://purl.obolibrary.org/obo/GO_0002702	positive regulation of production of molecular mediator of immune response		
http://purl.obolibrary.org/obo/GO_0045829	negative regulation of isotype switching	http://purl.obolibrary.org/obo/GO_0045191	regulation of isotype switching		
http://purl.obolibrary.org/obo/GO_0045830	positive regulation of isotype switching	http://purl.obolibrary.org/obo/GO_0045191	regulation of isotype switching		
http://purl.obolibrary.org/obo/GO_0002644	negative regulation of tolerance induction	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0002645	positive regulation of tolerance induction	http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0002652	regulation of tolerance induction dependent upon immune response	http://purl.obolibrary.org/obo/GO_0002822	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002653	negative regulation of tolerance induction dependent upon immune response	http://purl.obolibrary.org/obo/GO_0002823	negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002654	positive regulation of tolerance induction dependent upon immune response	http://purl.obolibrary.org/obo/GO_0002824	positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002658	regulation of peripheral tolerance induction	http://purl.obolibrary.org/obo/GO_0002652	regulation of tolerance induction dependent upon immune response		
http://purl.obolibrary.org/obo/GO_0002659	negative regulation of peripheral tolerance induction	http://purl.obolibrary.org/obo/GO_0002658	regulation of peripheral tolerance induction		
http://purl.obolibrary.org/obo/GO_0002660	positive regulation of peripheral tolerance induction	http://purl.obolibrary.org/obo/GO_0002658	regulation of peripheral tolerance induction		
http://purl.obolibrary.org/obo/GO_0002674	negative regulation of acute inflammatory response	http://purl.obolibrary.org/obo/GO_0050728	negative regulation of inflammatory response		
http://purl.obolibrary.org/obo/GO_0002675	positive regulation of acute inflammatory response	http://purl.obolibrary.org/obo/GO_0050729	positive regulation of inflammatory response		
http://purl.obolibrary.org/obo/GO_0002864	regulation of acute inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002861	regulation of inflammatory response to antigenic stimulus		
http://purl.obolibrary.org/obo/GO_0002865	negative regulation of acute inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002864	regulation of acute inflammatory response to antigenic stimulus		
http://purl.obolibrary.org/obo/GO_0002866	positive regulation of acute inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002864	regulation of acute inflammatory response to antigenic stimulus		
http://purl.obolibrary.org/obo/GO_0002577	regulation of antigen processing and presentation	http://purl.obolibrary.org/obo/GO_0002682	regulation of immune system process		
http://purl.obolibrary.org/obo/GO_0002643	regulation of tolerance induction	http://purl.obolibrary.org/obo/GO_0002682	regulation of immune system process		
http://purl.obolibrary.org/obo/GO_0002683	negative regulation of immune system process	http://purl.obolibrary.org/obo/GO_0048519	negative regulation of biological process		
http://purl.obolibrary.org/obo/GO_0002684	positive regulation of immune system process	http://purl.obolibrary.org/obo/GO_0048518	positive regulation of biological process		
http://purl.obolibrary.org/obo/GO_0002685	regulation of leukocyte migration	http://purl.obolibrary.org/obo/GO_0030334	regulation of cell migration		
http://purl.obolibrary.org/obo/GO_0002694	regulation of leukocyte activation	http://purl.obolibrary.org/obo/GO_0050865	regulation of cell activation		
http://purl.obolibrary.org/obo/GO_0002697	regulation of immune effector process	http://purl.obolibrary.org/obo/GO_0002682	regulation of immune system process		
http://purl.obolibrary.org/obo/GO_0050776	regulation of immune response	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_1903706	regulation of hemopoiesis	http://purl.obolibrary.org/obo/GO_0060284	regulation of cell development		
http://purl.obolibrary.org/obo/GO_0002686	negative regulation of leukocyte migration	http://purl.obolibrary.org/obo/GO_0030336	negative regulation of cell migration		
http://purl.obolibrary.org/obo/GO_0002695	negative regulation of leukocyte activation	http://purl.obolibrary.org/obo/GO_0050866	negative regulation of cell activation		
http://purl.obolibrary.org/obo/GO_0002698	negative regulation of immune effector process	http://purl.obolibrary.org/obo/GO_0002697	regulation of immune effector process		
http://purl.obolibrary.org/obo/GO_0050777	negative regulation of immune response	http://purl.obolibrary.org/obo/GO_0050776	regulation of immune response		
http://purl.obolibrary.org/obo/GO_1903707	negative regulation of hemopoiesis	http://purl.obolibrary.org/obo/GO_0010721	negative regulation of cell development		
http://purl.obolibrary.org/obo/GO_0002687	positive regulation of leukocyte migration	http://purl.obolibrary.org/obo/GO_0030335	positive regulation of cell migration		
http://purl.obolibrary.org/obo/GO_0002696	positive regulation of leukocyte activation	http://purl.obolibrary.org/obo/GO_0050867	positive regulation of cell activation		
http://purl.obolibrary.org/obo/GO_0002699	positive regulation of immune effector process	http://purl.obolibrary.org/obo/GO_0002697	regulation of immune effector process		
http://purl.obolibrary.org/obo/GO_0050778	positive regulation of immune response	http://purl.obolibrary.org/obo/GO_0050776	regulation of immune response		
http://purl.obolibrary.org/obo/GO_1903708	positive regulation of hemopoiesis	http://purl.obolibrary.org/obo/GO_0010720	positive regulation of cell development		
http://purl.obolibrary.org/obo/GO_0002688	regulation of leukocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0050920	regulation of chemotaxis		
http://purl.obolibrary.org/obo/GO_1902622	regulation of neutrophil migration	http://purl.obolibrary.org/obo/GO_0002685	regulation of leukocyte migration		
http://purl.obolibrary.org/obo/GO_0002689	negative regulation of leukocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0050922	negative regulation of chemotaxis		
http://purl.obolibrary.org/obo/GO_1902623	negative regulation of neutrophil migration	http://purl.obolibrary.org/obo/GO_1902622	regulation of neutrophil migration		
http://purl.obolibrary.org/obo/GO_0002690	positive regulation of leukocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0050921	positive regulation of chemotaxis		
http://purl.obolibrary.org/obo/GO_1902624	positive regulation of neutrophil migration	http://purl.obolibrary.org/obo/GO_1902622	regulation of neutrophil migration		
http://purl.obolibrary.org/obo/GO_0071622	regulation of granulocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0002688	regulation of leukocyte chemotaxis		
http://purl.obolibrary.org/obo/GO_0071623	negative regulation of granulocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0071622	regulation of granulocyte chemotaxis		
http://purl.obolibrary.org/obo/GO_0071624	positive regulation of granulocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0071622	regulation of granulocyte chemotaxis		
http://purl.obolibrary.org/obo/GO_0030885	regulation of myeloid dendritic cell activation	http://purl.obolibrary.org/obo/GO_0002694	regulation of leukocyte activation		
http://purl.obolibrary.org/obo/GO_0033003	regulation of mast cell activation	http://purl.obolibrary.org/obo/GO_0002694	regulation of leukocyte activation		
http://purl.obolibrary.org/obo/GO_0051249	regulation of lymphocyte activation	http://purl.obolibrary.org/obo/GO_0002694	regulation of leukocyte activation		
http://purl.obolibrary.org/obo/GO_0043030	regulation of macrophage activation	http://purl.obolibrary.org/obo/GO_0002694	regulation of leukocyte activation		
http://purl.obolibrary.org/obo/GO_0030886	negative regulation of myeloid dendritic cell activation	http://purl.obolibrary.org/obo/GO_0030885	regulation of myeloid dendritic cell activation		
http://purl.obolibrary.org/obo/GO_0033004	negative regulation of mast cell activation	http://purl.obolibrary.org/obo/GO_0033003	regulation of mast cell activation		
http://purl.obolibrary.org/obo/GO_0051250	negative regulation of lymphocyte activation	http://purl.obolibrary.org/obo/GO_0051249	regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_0043031	negative regulation of macrophage activation	http://purl.obolibrary.org/obo/GO_0043030	regulation of macrophage activation		
http://purl.obolibrary.org/obo/GO_0030887	positive regulation of myeloid dendritic cell activation	http://purl.obolibrary.org/obo/GO_0030885	regulation of myeloid dendritic cell activation		
http://purl.obolibrary.org/obo/GO_0033005	positive regulation of mast cell activation	http://purl.obolibrary.org/obo/GO_0033003	regulation of mast cell activation		
http://purl.obolibrary.org/obo/GO_0051251	positive regulation of lymphocyte activation	http://purl.obolibrary.org/obo/GO_0051249	regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_0043032	positive regulation of macrophage activation	http://purl.obolibrary.org/obo/GO_0043030	regulation of macrophage activation		
http://purl.obolibrary.org/obo/GO_0002700	regulation of production of molecular mediator of immune response	http://purl.obolibrary.org/obo/GO_0010468	regulation of gene expression		
http://purl.obolibrary.org/obo/GO_0002703	regulation of leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002697	regulation of immune effector process		
http://purl.obolibrary.org/obo/GO_0030449	regulation of complement activation	http://purl.obolibrary.org/obo/GO_0002920	regulation of humoral immune response		
http://purl.obolibrary.org/obo/GO_1903027	regulation of opsonization	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0002704	negative regulation of leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002703	regulation of leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0045916	negative regulation of complement activation	http://purl.obolibrary.org/obo/GO_0030449	regulation of complement activation		
http://purl.obolibrary.org/obo/GO_0033007	negative regulation of mast cell activation involved in immune response	http://purl.obolibrary.org/obo/GO_0033004	negative regulation of mast cell activation		
http://purl.obolibrary.org/obo/GO_0002702	positive regulation of production of molecular mediator of immune response	http://purl.obolibrary.org/obo/GO_0010628	positive regulation of gene expression		
http://purl.obolibrary.org/obo/GO_0002705	positive regulation of leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002703	regulation of leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0045917	positive regulation of complement activation	http://purl.obolibrary.org/obo/GO_0030449	regulation of complement activation		
http://purl.obolibrary.org/obo/GO_0033008	positive regulation of mast cell activation involved in immune response	http://purl.obolibrary.org/obo/GO_0033005	positive regulation of mast cell activation		
http://purl.obolibrary.org/obo/GO_0002637	regulation of immunoglobulin production	http://purl.obolibrary.org/obo/GO_0002700	regulation of production of molecular mediator of immune response		
http://purl.obolibrary.org/obo/GO_0002784	regulation of antimicrobial peptide production	http://purl.obolibrary.org/obo/GO_0002759	regulation of antimicrobial humoral response		
http://purl.obolibrary.org/obo/GO_0002785	negative regulation of antimicrobial peptide production	http://purl.obolibrary.org/obo/GO_0008348	negative regulation of antimicrobial humoral response		
http://purl.obolibrary.org/obo/GO_0002225	positive regulation of antimicrobial peptide production	http://purl.obolibrary.org/obo/GO_0002784	regulation of antimicrobial peptide production		
http://purl.obolibrary.org/obo/GO_0001910	regulation of leukocyte mediated cytotoxicity	http://purl.obolibrary.org/obo/GO_0031341	regulation of cell killing		
http://purl.obolibrary.org/obo/GO_0002706	regulation of lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002703	regulation of leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0002886	regulation of myeloid leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002703	regulation of leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0002707	negative regulation of lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002706	regulation of lymphocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0002887	negative regulation of myeloid leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002886	regulation of myeloid leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0002708	positive regulation of lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002706	regulation of lymphocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0002888	positive regulation of myeloid leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002886	regulation of myeloid leukocyte mediated immunity		
http://purl.obolibrary.org/obo/GO_0002709	regulation of T cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002822	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002712	regulation of B cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002822	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002715	regulation of natural killer cell mediated immunity	http://purl.obolibrary.org/obo/GO_0045088	regulation of innate immune response		
http://purl.obolibrary.org/obo/GO_0002710	negative regulation of T cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002823	negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002713	negative regulation of B cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002823	negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002716	negative regulation of natural killer cell mediated immunity	http://purl.obolibrary.org/obo/GO_0045824	negative regulation of innate immune response		
http://purl.obolibrary.org/obo/GO_0002711	positive regulation of T cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002824	positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002714	positive regulation of B cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002824	positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002717	positive regulation of natural killer cell mediated immunity	http://purl.obolibrary.org/obo/GO_0045089	positive regulation of innate immune response		
http://purl.obolibrary.org/obo/GO_0001807	regulation of type IV hypersensitivity	http://purl.obolibrary.org/obo/GO_0002883	regulation of hypersensitivity		
http://purl.obolibrary.org/obo/GO_0002889	regulation of immunoglobulin mediated immune response	http://purl.obolibrary.org/obo/GO_0002712	regulation of B cell mediated immunity		
http://purl.obolibrary.org/obo/GO_0002890	negative regulation of immunoglobulin mediated immune response	http://purl.obolibrary.org/obo/GO_0002889	regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0002891	positive regulation of immunoglobulin mediated immune response	http://purl.obolibrary.org/obo/GO_0002889	regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0002429	immune response-activating cell surface receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0002768	immune response-regulating cell surface receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0002760	positive regulation of antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0032103	positive regulation of response to external stimulus		
http://purl.obolibrary.org/obo/GO_0008348	negative regulation of antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0032102	negative regulation of response to external stimulus		
http://purl.obolibrary.org/obo/GO_0002762	negative regulation of myeloid leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1902106	negative regulation of leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0002763	positive regulation of myeloid leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1902107	positive regulation of leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0030852	regulation of granulocyte differentiation	http://purl.obolibrary.org/obo/GO_0002761	regulation of myeloid leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045655	regulation of monocyte differentiation	http://purl.obolibrary.org/obo/GO_0002761	regulation of myeloid leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045670	regulation of osteoclast differentiation	http://purl.obolibrary.org/obo/GO_0002761	regulation of myeloid leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045649	regulation of macrophage differentiation	http://purl.obolibrary.org/obo/GO_0002761	regulation of myeloid leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0060375	regulation of mast cell differentiation	http://purl.obolibrary.org/obo/GO_0002761	regulation of myeloid leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0030853	negative regulation of granulocyte differentiation	http://purl.obolibrary.org/obo/GO_0030852	regulation of granulocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045656	negative regulation of monocyte differentiation	http://purl.obolibrary.org/obo/GO_0045655	regulation of monocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045671	negative regulation of osteoclast differentiation	http://purl.obolibrary.org/obo/GO_0045670	regulation of osteoclast differentiation		
http://purl.obolibrary.org/obo/GO_0045650	negative regulation of macrophage differentiation	http://purl.obolibrary.org/obo/GO_0045649	regulation of macrophage differentiation		
http://purl.obolibrary.org/obo/GO_0060377	negative regulation of mast cell differentiation	http://purl.obolibrary.org/obo/GO_0060375	regulation of mast cell differentiation		
http://purl.obolibrary.org/obo/GO_0030854	positive regulation of granulocyte differentiation	http://purl.obolibrary.org/obo/GO_0030852	regulation of granulocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045657	positive regulation of monocyte differentiation	http://purl.obolibrary.org/obo/GO_0045655	regulation of monocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045672	positive regulation of osteoclast differentiation	http://purl.obolibrary.org/obo/GO_0045670	regulation of osteoclast differentiation		
http://purl.obolibrary.org/obo/GO_0045651	positive regulation of macrophage differentiation	http://purl.obolibrary.org/obo/GO_0045649	regulation of macrophage differentiation		
http://purl.obolibrary.org/obo/GO_0060376	positive regulation of mast cell differentiation	http://purl.obolibrary.org/obo/GO_0060375	regulation of mast cell differentiation		
http://purl.obolibrary.org/obo/GO_0002768	immune response-regulating cell surface receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0007166	cell surface receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0002794	regulation of antimicrobial peptide secretion	http://purl.obolibrary.org/obo/GO_0002791	regulation of peptide secretion		
http://purl.obolibrary.org/obo/GO_0002795	negative regulation of antimicrobial peptide secretion	http://purl.obolibrary.org/obo/GO_0002794	regulation of antimicrobial peptide secretion		
http://purl.obolibrary.org/obo/GO_0002776	antimicrobial peptide secretion	http://purl.obolibrary.org/obo/GO_0002790	peptide secretion		
http://purl.obolibrary.org/obo/GO_0002792	negative regulation of peptide secretion	http://purl.obolibrary.org/obo/GO_0051048	negative regulation of secretion		
http://purl.obolibrary.org/obo/GO_0002793	positive regulation of peptide secretion	http://purl.obolibrary.org/obo/GO_0051047	positive regulation of secretion		
http://purl.obolibrary.org/obo/GO_0090278	negative regulation of peptide hormone secretion	http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0090277	positive regulation of peptide hormone secretion	http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0002820	negative regulation of adaptive immune response	http://purl.obolibrary.org/obo/GO_0050777	negative regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002821	positive regulation of adaptive immune response	http://purl.obolibrary.org/obo/GO_0050778	positive regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002822	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	http://purl.obolibrary.org/obo/GO_0002819	regulation of adaptive immune response		
http://purl.obolibrary.org/obo/GO_0002823	negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	http://purl.obolibrary.org/obo/GO_0002822	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002824	positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	http://purl.obolibrary.org/obo/GO_0002822	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002825	regulation of T-helper 1 type immune response	http://purl.obolibrary.org/obo/GO_0002822	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains		
http://purl.obolibrary.org/obo/GO_0002826	negative regulation of T-helper 1 type immune response	http://purl.obolibrary.org/obo/GO_0002825	regulation of T-helper 1 type immune response		
http://purl.obolibrary.org/obo/GO_0002827	positive regulation of T-helper 1 type immune response	http://purl.obolibrary.org/obo/GO_0002825	regulation of T-helper 1 type immune response		
http://purl.obolibrary.org/obo/GO_0002829	negative regulation of type 2 immune response	http://purl.obolibrary.org/obo/GO_0050777	negative regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002830	positive regulation of type 2 immune response	http://purl.obolibrary.org/obo/GO_0050778	positive regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002759	regulation of antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0031347	regulation of defense response		
http://purl.obolibrary.org/obo/GO_0002832	negative regulation of response to biotic stimulus	http://purl.obolibrary.org/obo/GO_0048585	negative regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0002833	positive regulation of response to biotic stimulus	http://purl.obolibrary.org/obo/GO_0048584	positive regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0045088	regulation of innate immune response	http://purl.obolibrary.org/obo/GO_0031347	regulation of defense response		
http://purl.obolibrary.org/obo/GO_1900424	regulation of defense response to bacterium	http://purl.obolibrary.org/obo/GO_0031347	regulation of defense response		
http://purl.obolibrary.org/obo/GO_0045824	negative regulation of innate immune response	http://purl.obolibrary.org/obo/GO_0032102	negative regulation of response to external stimulus		
http://purl.obolibrary.org/obo/GO_1900425	negative regulation of defense response to bacterium	http://purl.obolibrary.org/obo/GO_0032102	negative regulation of response to external stimulus		
http://purl.obolibrary.org/obo/GO_0045089	positive regulation of innate immune response	http://purl.obolibrary.org/obo/GO_0050778	positive regulation of immune response		
http://purl.obolibrary.org/obo/GO_1900426	positive regulation of defense response to bacterium	http://purl.obolibrary.org/obo/GO_1900424	regulation of defense response to bacterium		
http://purl.obolibrary.org/obo/GO_0002862	negative regulation of inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0050777	negative regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002863	positive regulation of inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0050778	positive regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002883	regulation of hypersensitivity	http://purl.obolibrary.org/obo/GO_0002864	regulation of acute inflammatory response to antigenic stimulus		
http://purl.obolibrary.org/obo/GO_0002884	negative regulation of hypersensitivity	http://purl.obolibrary.org/obo/GO_0002883	regulation of hypersensitivity		
http://purl.obolibrary.org/obo/GO_0002885	positive regulation of hypersensitivity	http://purl.obolibrary.org/obo/GO_0002883	regulation of hypersensitivity		
http://purl.obolibrary.org/obo/GO_0001803	regulation of type III hypersensitivity	http://purl.obolibrary.org/obo/GO_0002889	regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0001810	regulation of type I hypersensitivity	http://purl.obolibrary.org/obo/GO_0002889	regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0002892	regulation of type II hypersensitivity	http://purl.obolibrary.org/obo/GO_0002889	regulation of immunoglobulin mediated immune response		
http://purl.obolibrary.org/obo/GO_0002893	negative regulation of type II hypersensitivity	http://purl.obolibrary.org/obo/GO_0002892	regulation of type II hypersensitivity		
http://purl.obolibrary.org/obo/GO_0002894	positive regulation of type II hypersensitivity	http://purl.obolibrary.org/obo/GO_0002892	regulation of type II hypersensitivity		
http://purl.obolibrary.org/obo/GO_0002921	negative regulation of humoral immune response	http://purl.obolibrary.org/obo/GO_0050777	negative regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002922	positive regulation of humoral immune response	http://purl.obolibrary.org/obo/GO_0050778	positive regulation of immune response		
http://purl.obolibrary.org/obo/GO_0007281	germ cell development	http://purl.obolibrary.org/obo/GO_0048468	cell development		
http://purl.obolibrary.org/obo/GO_0007548	sex differentiation	http://purl.obolibrary.org/obo/GO_0003006	developmental process involved in reproduction		
http://purl.obolibrary.org/obo/GO_0048515	spermatid differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0046697	decidualization	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0048240	sperm capacitation	http://purl.obolibrary.org/obo/GO_0048469	cell maturation		
http://purl.obolibrary.org/obo/GO_0120316	sperm flagellum assembly	http://purl.obolibrary.org/obo/GO_0044458	motile cilium assembly		
http://purl.obolibrary.org/obo/GO_0001675	acrosome assembly	http://purl.obolibrary.org/obo/GO_0070925	organelle assembly		
http://purl.obolibrary.org/obo/GO_0001893	maternal placenta development	http://purl.obolibrary.org/obo/GO_0060135	maternal process involved in female pregnancy		
http://purl.obolibrary.org/obo/GO_0048608	reproductive structure development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0045136	development of secondary sexual characteristics	http://purl.obolibrary.org/obo/GO_0003006	developmental process involved in reproduction		
http://purl.obolibrary.org/obo/GO_0045137	development of primary sexual characteristics	http://purl.obolibrary.org/obo/GO_0003006	developmental process involved in reproduction		
http://purl.obolibrary.org/obo/GO_0007588	excretion	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0003012	muscle system process	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0003013	circulatory system process	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0003014	renal system process	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0003016	respiratory system process	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0022600	digestive system process	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0050877	nervous system process	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0050886	endocrine process	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0061007	hepaticobiliary system process	http://purl.obolibrary.org/obo/GO_0003008	system process		
http://purl.obolibrary.org/obo/GO_0003010	voluntary skeletal muscle contraction	http://purl.obolibrary.org/obo/GO_0003009	skeletal muscle contraction		
http://purl.obolibrary.org/obo/GO_0006936	muscle contraction	http://purl.obolibrary.org/obo/GO_0003012	muscle system process		
http://purl.obolibrary.org/obo/GO_0008015	blood circulation	http://purl.obolibrary.org/obo/GO_0003013	circulatory system process		
http://purl.obolibrary.org/obo/GO_0003015	heart process	http://purl.obolibrary.org/obo/GO_0003013	circulatory system process		
http://purl.obolibrary.org/obo/GO_0003018	vascular process in circulatory system	http://purl.obolibrary.org/obo/GO_0003013	circulatory system process		
http://purl.obolibrary.org/obo/GO_0003071	renal system process involved in regulation of systemic arterial blood pressure	http://purl.obolibrary.org/obo/GO_0003014	renal system process		
http://purl.obolibrary.org/obo/GO_0003091	renal water homeostasis	http://purl.obolibrary.org/obo/GO_0050891	multicellular organismal-level water homeostasis		
http://purl.obolibrary.org/obo/GO_0003097	renal water transport	http://purl.obolibrary.org/obo/GO_0006833	water transport		
http://purl.obolibrary.org/obo/GO_0097205	renal filtration	http://purl.obolibrary.org/obo/GO_0003014	renal system process		
http://purl.obolibrary.org/obo/GO_0035809	regulation of urine volume	http://purl.obolibrary.org/obo/GO_0050878	regulation of body fluid levels		
http://purl.obolibrary.org/obo/GO_0070293	renal absorption	http://purl.obolibrary.org/obo/GO_0003014	renal system process		
http://purl.obolibrary.org/obo/GO_0060047	heart contraction	http://purl.obolibrary.org/obo/GO_0003015	heart process		
http://purl.obolibrary.org/obo/GO_0097746	blood vessel diameter maintenance	http://purl.obolibrary.org/obo/GO_0035296	regulation of tube diameter		
http://purl.obolibrary.org/obo/GO_0003039	detection of reduced oxygen by carotid body chemoreceptor signaling	http://purl.obolibrary.org/obo/GO_0003020	detection of reduced oxygen by chemoreceptor signaling		
http://purl.obolibrary.org/obo/GO_0003022	detection of pH by chemoreceptor signaling	http://purl.obolibrary.org/obo/GO_0003030	detection of hydrogen ion		
http://purl.obolibrary.org/obo/GO_0001990	regulation of systemic arterial blood pressure by hormone	http://purl.obolibrary.org/obo/GO_0050886	endocrine process		
http://purl.obolibrary.org/obo/GO_0002018	renin-angiotensin regulation of aldosterone production	http://purl.obolibrary.org/obo/GO_2000858	regulation of aldosterone secretion		
http://purl.obolibrary.org/obo/GO_0003044	regulation of systemic arterial blood pressure mediated by a chemical signal	http://purl.obolibrary.org/obo/GO_0003073	regulation of systemic arterial blood pressure		
http://purl.obolibrary.org/obo/GO_0002016	regulation of blood volume by renin-angiotensin	http://purl.obolibrary.org/obo/GO_0003081	regulation of systemic arterial blood pressure by renin-angiotensin		
http://purl.obolibrary.org/obo/GO_0003104	positive regulation of glomerular filtration	http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0003105	negative regulation of glomerular filtration	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0070295	renal water absorption	http://purl.obolibrary.org/obo/GO_0070293	renal absorption		
http://purl.obolibrary.org/obo/GO_0003331	positive regulation of extracellular matrix constituent secretion	http://purl.obolibrary.org/obo/GO_1903532	positive regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_0003332	negative regulation of extracellular matrix constituent secretion	http://purl.obolibrary.org/obo/GO_1903531	negative regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_0060294	cilium movement involved in cell motility	http://purl.obolibrary.org/obo/GO_0003341	cilium movement		
http://purl.obolibrary.org/obo/GO_0003353	positive regulation of cilium movement	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0060295	regulation of cilium movement involved in cell motility	http://purl.obolibrary.org/obo/GO_1902019	regulation of cilium-dependent cell motility		
http://purl.obolibrary.org/obo/GO_1902093	positive regulation of flagellated sperm motility	http://purl.obolibrary.org/obo/GO_2000243	positive regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_1901318	negative regulation of flagellated sperm motility	http://purl.obolibrary.org/obo/GO_2000242	negative regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0005215	transporter activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0038024	cargo receptor activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0060089	molecular transducer activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0098772	molecular function regulator activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0003824	catalytic activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0005488	binding	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0016209	antioxidant activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0045182	translation regulator activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0060090	molecular adaptor activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0140657	ATP-dependent activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0140110	transcription regulator activity	http://purl.obolibrary.org/obo/GO_0003674	molecular_function		
http://purl.obolibrary.org/obo/GO_0001067	transcription regulatory region nucleic acid binding	http://purl.obolibrary.org/obo/GO_0003676	nucleic acid binding		
http://purl.obolibrary.org/obo/GO_0003677	DNA binding	http://purl.obolibrary.org/obo/GO_0003676	nucleic acid binding		
http://purl.obolibrary.org/obo/GO_0003723	RNA binding	http://purl.obolibrary.org/obo/GO_0003676	nucleic acid binding		
http://purl.obolibrary.org/obo/GO_0008301	DNA binding, bending	http://purl.obolibrary.org/obo/GO_0003677	DNA binding		
http://purl.obolibrary.org/obo/GO_0003690	double-stranded DNA binding	http://purl.obolibrary.org/obo/GO_0003677	DNA binding		
http://purl.obolibrary.org/obo/GO_0043565	sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0003677	DNA binding		
http://purl.obolibrary.org/obo/GO_1990837	sequence-specific double-stranded DNA binding	http://purl.obolibrary.org/obo/GO_0043565	sequence-specific DNA binding		
http://purl.obolibrary.org/obo/GO_0098531	ligand-modulated transcription factor activity	http://purl.obolibrary.org/obo/GO_0003700	DNA-binding transcription factor activity		
http://purl.obolibrary.org/obo/GO_0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	http://purl.obolibrary.org/obo/GO_0003700	DNA-binding transcription factor activity		
http://purl.obolibrary.org/obo/GO_0001216	DNA-binding transcription activator activity	http://purl.obolibrary.org/obo/GO_0003700	DNA-binding transcription factor activity		
http://purl.obolibrary.org/obo/GO_0001217	DNA-binding transcription repressor activity	http://purl.obolibrary.org/obo/GO_0003700	DNA-binding transcription factor activity		
http://purl.obolibrary.org/obo/GO_1904091	non-ribosomal peptide synthetase activity	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0016740	transferase activity	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0016787	hydrolase activity	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0016829	lyase activity	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0016853	isomerase activity	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0016874	ligase activity	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0140096	catalytic activity, acting on a protein	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0140640	catalytic activity, acting on a nucleic acid	http://purl.obolibrary.org/obo/GO_0003824	catalytic activity		
http://purl.obolibrary.org/obo/GO_0004466	long-chain fatty acyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0003995	acyl-CoA dehydrogenase activity		
http://purl.obolibrary.org/obo/GO_0016937	short-chain fatty acyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0003995	acyl-CoA dehydrogenase activity		
http://purl.obolibrary.org/obo/GO_0017099	very-long-chain fatty acyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0003995	acyl-CoA dehydrogenase activity		
http://purl.obolibrary.org/obo/GO_0070991	medium-chain fatty acyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0003995	acyl-CoA dehydrogenase activity		
http://purl.obolibrary.org/obo/GO_0004029	aldehyde dehydrogenase (NAD+) activity	http://purl.obolibrary.org/obo/GO_0004030	aldehyde dehydrogenase [NAD(P)+] activity		
http://purl.obolibrary.org/obo/GO_0004252	serine-type endopeptidase activity	http://purl.obolibrary.org/obo/GO_0008236	serine-type peptidase activity		
http://purl.obolibrary.org/obo/GO_0070009	serine-type aminopeptidase activity	http://purl.obolibrary.org/obo/GO_0070008	serine-type exopeptidase activity		
http://purl.obolibrary.org/obo/GO_0015923	mannosidase activity	http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds		
http://purl.obolibrary.org/obo/GO_0015925	galactosidase activity	http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds		
http://purl.obolibrary.org/obo/GO_0015927	trehalase activity	http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds		
http://purl.obolibrary.org/obo/GO_0046574	glucuronidase activity	http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds		
http://purl.obolibrary.org/obo/GO_0003940	L-iduronidase activity	http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds		
http://purl.obolibrary.org/obo/GO_0015926	glucosidase activity	http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds		
http://purl.obolibrary.org/obo/GO_0015929	hexosaminidase activity	http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds		
http://purl.obolibrary.org/obo/GO_0017042	glycosylceramidase activity	http://purl.obolibrary.org/obo/GO_0004553	hydrolase activity, hydrolyzing O-glycosyl compounds		
http://purl.obolibrary.org/obo/GO_0004602	glutathione peroxidase activity	http://purl.obolibrary.org/obo/GO_0004601	peroxidase activity		
http://purl.obolibrary.org/obo/GO_0003707	nuclear steroid receptor activity	http://purl.obolibrary.org/obo/GO_0004879	nuclear receptor activity		
http://purl.obolibrary.org/obo/GO_0008046	axon guidance receptor activity	http://purl.obolibrary.org/obo/GO_0004888	transmembrane signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0008066	glutamate receptor activity	http://purl.obolibrary.org/obo/GO_0004888	transmembrane signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0038064	collagen receptor activity	http://purl.obolibrary.org/obo/GO_0004888	transmembrane signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0008527	taste receptor activity	http://purl.obolibrary.org/obo/GO_0004888	transmembrane signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0042562	hormone binding	http://purl.obolibrary.org/obo/GO_0005488	binding		
http://purl.obolibrary.org/obo/GO_0003676	nucleic acid binding	http://purl.obolibrary.org/obo/GO_0005488	binding		
http://purl.obolibrary.org/obo/GO_0005515	protein binding	http://purl.obolibrary.org/obo/GO_0005488	binding		
http://purl.obolibrary.org/obo/GO_0008289	lipid binding	http://purl.obolibrary.org/obo/GO_0005488	binding		
http://purl.obolibrary.org/obo/GO_0036094	small molecule binding	http://purl.obolibrary.org/obo/GO_0005488	binding		
http://purl.obolibrary.org/obo/GO_0044877	protein-containing complex binding	http://purl.obolibrary.org/obo/GO_0005488	binding		
http://purl.obolibrary.org/obo/GO_0016597	amino acid binding	http://purl.obolibrary.org/obo/GO_0005488	binding		
http://purl.obolibrary.org/obo/GO_0050839	cell adhesion molecule binding	http://purl.obolibrary.org/obo/GO_0005515	protein binding		
http://purl.obolibrary.org/obo/GO_0001848	complement binding	http://purl.obolibrary.org/obo/GO_0005515	protein binding		
http://purl.obolibrary.org/obo/GO_0005102	signaling receptor binding	http://purl.obolibrary.org/obo/GO_0005515	protein binding		
http://purl.obolibrary.org/obo/GO_0019899	enzyme binding	http://purl.obolibrary.org/obo/GO_0005515	protein binding		
http://purl.obolibrary.org/obo/GO_0019955	cytokine binding	http://purl.obolibrary.org/obo/GO_0005515	protein binding		
http://purl.obolibrary.org/obo/GO_0044325	transmembrane transporter binding	http://purl.obolibrary.org/obo/GO_0005515	protein binding		
http://purl.obolibrary.org/obo/GO_0016234	inclusion body	http://purl.obolibrary.org/obo/GO_0005622	intracellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0000228	nuclear chromosome	http://purl.obolibrary.org/obo/GO_0005694	chromosome		
http://purl.obolibrary.org/obo/GO_0000262	mitochondrial chromosome	http://purl.obolibrary.org/obo/GO_0005694	chromosome		
http://purl.obolibrary.org/obo/GO_0000803	sex chromosome	http://purl.obolibrary.org/obo/GO_0005694	chromosome		
http://purl.obolibrary.org/obo/GO_0030849	autosome	http://purl.obolibrary.org/obo/GO_0005694	chromosome		
http://purl.obolibrary.org/obo/GO_0005938	cell cortex	http://purl.obolibrary.org/obo/GO_0005737	cytoplasm		
http://purl.obolibrary.org/obo/GO_0097014	ciliary plasm	http://purl.obolibrary.org/obo/GO_0005737	cytoplasm		
http://purl.obolibrary.org/obo/GO_0099568	cytoplasmic region	http://purl.obolibrary.org/obo/GO_0005737	cytoplasm		
http://purl.obolibrary.org/obo/CL_0017500	neutrophillic cytoplasm	http://purl.obolibrary.org/obo/GO_0005737	cytoplasm		
http://purl.obolibrary.org/obo/CL_0017502	acidophilic cytoplasm	http://purl.obolibrary.org/obo/GO_0005737	cytoplasm		
http://purl.obolibrary.org/obo/CL_0017503	basophilic cytoplasm	http://purl.obolibrary.org/obo/GO_0005737	cytoplasm		
http://purl.obolibrary.org/obo/CL_0017504	polychromatophilic cytoplasm	http://purl.obolibrary.org/obo/GO_0005737	cytoplasm		
http://purl.obolibrary.org/obo/GO_0120111	neuron projection cytoplasm	http://purl.obolibrary.org/obo/GO_0005737	cytoplasm		
http://purl.obolibrary.org/obo/GO_0005766	primary lysosome	http://purl.obolibrary.org/obo/GO_0005764	lysosome		
http://purl.obolibrary.org/obo/GO_0000323	lytic vacuole	http://purl.obolibrary.org/obo/GO_0005773	vacuole		
http://purl.obolibrary.org/obo/GO_0099523	presynaptic cytosol	http://purl.obolibrary.org/obo/GO_0005829	cytosol		
http://purl.obolibrary.org/obo/GO_0099524	postsynaptic cytosol	http://purl.obolibrary.org/obo/GO_0005829	cytosol		
http://purl.obolibrary.org/obo/GO_0022626	cytosolic ribosome	http://purl.obolibrary.org/obo/GO_0005840	ribosome		
http://purl.obolibrary.org/obo/GO_0000313	organellar ribosome	http://purl.obolibrary.org/obo/GO_0005840	ribosome		
http://purl.obolibrary.org/obo/GO_0005879	axonemal microtubule	http://purl.obolibrary.org/obo/GO_0005881	cytoplasmic microtubule		
http://purl.obolibrary.org/obo/GO_0044042	glucan metabolic process	http://purl.obolibrary.org/obo/GO_0005976	polysaccharide metabolic process		
http://purl.obolibrary.org/obo/GO_0000271	polysaccharide biosynthetic process	http://purl.obolibrary.org/obo/GO_0016051	carbohydrate biosynthetic process		
http://purl.obolibrary.org/obo/GO_0000272	polysaccharide catabolic process	http://purl.obolibrary.org/obo/GO_0016052	carbohydrate catabolic process		
http://purl.obolibrary.org/obo/GO_0032042	mitochondrial DNA metabolic process	http://purl.obolibrary.org/obo/GO_0006259	DNA metabolic process		
http://purl.obolibrary.org/obo/GO_0006281	DNA repair	http://purl.obolibrary.org/obo/GO_0006974	DNA damage response		
http://purl.obolibrary.org/obo/GO_0006310	DNA recombination	http://purl.obolibrary.org/obo/GO_0006259	DNA metabolic process		
http://purl.obolibrary.org/obo/GO_0006289	nucleotide-excision repair	http://purl.obolibrary.org/obo/GO_0006281	DNA repair		
http://purl.obolibrary.org/obo/GO_0016444	somatic cell DNA recombination	http://purl.obolibrary.org/obo/GO_0006310	DNA recombination		
http://purl.obolibrary.org/obo/GO_0006366	transcription by RNA polymerase II	http://purl.obolibrary.org/obo/GO_0006351	DNA-templated transcription		
http://purl.obolibrary.org/obo/GO_0006357	regulation of transcription by RNA polymerase II	http://purl.obolibrary.org/obo/GO_0006355	regulation of DNA-templated transcription		
http://purl.obolibrary.org/obo/GO_0045892	negative regulation of DNA-templated transcription	http://purl.obolibrary.org/obo/GO_1902679	negative regulation of RNA biosynthetic process		
http://purl.obolibrary.org/obo/GO_0032784	regulation of DNA-templated transcription elongation	http://purl.obolibrary.org/obo/GO_0006355	regulation of DNA-templated transcription		
http://purl.obolibrary.org/obo/GO_0000122	negative regulation of transcription by RNA polymerase II	http://purl.obolibrary.org/obo/GO_0045892	negative regulation of DNA-templated transcription		
http://purl.obolibrary.org/obo/GO_0045944	positive regulation of transcription by RNA polymerase II	http://purl.obolibrary.org/obo/GO_0045893	positive regulation of DNA-templated transcription		
http://purl.obolibrary.org/obo/GO_0000963	mitochondrial RNA processing	http://purl.obolibrary.org/obo/GO_0140053	mitochondrial gene expression		
http://purl.obolibrary.org/obo/GO_0008380	RNA splicing	http://purl.obolibrary.org/obo/GO_0006396	RNA processing		
http://purl.obolibrary.org/obo/GO_0140241	translation at synapse	http://purl.obolibrary.org/obo/GO_0006412	translation		
http://purl.obolibrary.org/obo/GO_0002181	cytoplasmic translation	http://purl.obolibrary.org/obo/GO_0006412	translation		
http://purl.obolibrary.org/obo/GO_0032543	mitochondrial translation	http://purl.obolibrary.org/obo/GO_0006412	translation		
http://purl.obolibrary.org/obo/GO_0002183	cytoplasmic translational initiation	http://purl.obolibrary.org/obo/GO_0006413	translational initiation		
http://purl.obolibrary.org/obo/GO_0070124	mitochondrial translational initiation	http://purl.obolibrary.org/obo/GO_0006413	translational initiation		
http://purl.obolibrary.org/obo/GO_0002182	cytoplasmic translational elongation	http://purl.obolibrary.org/obo/GO_0006414	translational elongation		
http://purl.obolibrary.org/obo/GO_0070125	mitochondrial translational elongation	http://purl.obolibrary.org/obo/GO_0006414	translational elongation		
http://purl.obolibrary.org/obo/GO_0002184	cytoplasmic translational termination	http://purl.obolibrary.org/obo/GO_0006415	translational termination		
http://purl.obolibrary.org/obo/GO_0070126	mitochondrial translational termination	http://purl.obolibrary.org/obo/GO_0006415	translational termination		
http://purl.obolibrary.org/obo/GO_0008652	amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009063	amino acid catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0043038	amino acid activation	http://purl.obolibrary.org/obo/GO_0006520	amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0045763	negative regulation of amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0045764	positive regulation of amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_2000282	regulation of amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006749	glutathione metabolic process	http://purl.obolibrary.org/obo/GO_0006790	sulfur compound metabolic process		
http://purl.obolibrary.org/obo/GO_0042398	modified amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006595	polyamine metabolic process	http://purl.obolibrary.org/obo/GO_0006576	biogenic amine metabolic process		
http://purl.obolibrary.org/obo/GO_0042401	biogenic amine biosynthetic process	http://purl.obolibrary.org/obo/GO_0009309	amine biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009106	lipoate metabolic process	http://purl.obolibrary.org/obo/GO_0006790	sulfur compound metabolic process		
http://purl.obolibrary.org/obo/GO_0019395	fatty acid oxidation	http://purl.obolibrary.org/obo/GO_0034440	lipid oxidation		
http://purl.obolibrary.org/obo/GO_0009107	lipoate biosynthetic process	http://purl.obolibrary.org/obo/GO_0044272	sulfur compound biosynthetic process		
http://purl.obolibrary.org/obo/GO_0051923	sulfation	http://purl.obolibrary.org/obo/GO_0006790	sulfur compound metabolic process		
http://purl.obolibrary.org/obo/GO_0044272	sulfur compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0044273	sulfur compound catabolic process	http://purl.obolibrary.org/obo/GO_0009056	catabolic process		
http://purl.obolibrary.org/obo/GO_0070588	calcium ion transmembrane transport	http://purl.obolibrary.org/obo/GO_0098655	monoatomic cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0001820	serotonin secretion	http://purl.obolibrary.org/obo/GO_0023061	signal release		
http://purl.obolibrary.org/obo/GO_0015804	neutral amino acid transport	http://purl.obolibrary.org/obo/GO_0006865	amino acid transport		
http://purl.obolibrary.org/obo/GO_0015800	acidic amino acid transport	http://purl.obolibrary.org/obo/GO_0006865	amino acid transport		
http://purl.obolibrary.org/obo/GO_0010877	lipid transport involved in lipid storage	http://purl.obolibrary.org/obo/GO_0006869	lipid transport		
http://purl.obolibrary.org/obo/GO_1902742	apoptotic process involved in development	http://purl.obolibrary.org/obo/GO_0006915	apoptotic process		
http://purl.obolibrary.org/obo/GO_1904304	regulation of gastro-intestinal system smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0006940	regulation of smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0003009	skeletal muscle contraction	http://purl.obolibrary.org/obo/GO_0006941	striated muscle contraction		
http://purl.obolibrary.org/obo/GO_0060048	cardiac muscle contraction	http://purl.obolibrary.org/obo/GO_0006941	striated muscle contraction		
http://purl.obolibrary.org/obo/GO_0001666	response to hypoxia	http://purl.obolibrary.org/obo/GO_0036293	response to decreased oxygen levels		
http://purl.obolibrary.org/obo/GO_0006952	defense response	http://purl.obolibrary.org/obo/GO_0006950	response to stress		
http://purl.obolibrary.org/obo/GO_0009611	response to wounding	http://purl.obolibrary.org/obo/GO_0006950	response to stress		
http://purl.obolibrary.org/obo/GO_0006954	inflammatory response	http://purl.obolibrary.org/obo/GO_0006952	defense response		
http://purl.obolibrary.org/obo/GO_0006968	cellular defense response	http://purl.obolibrary.org/obo/GO_0006952	defense response		
http://purl.obolibrary.org/obo/GO_0098542	defense response to other organism	http://purl.obolibrary.org/obo/GO_0051707	response to other organism		
http://purl.obolibrary.org/obo/GO_0042742	defense response to bacterium	http://purl.obolibrary.org/obo/GO_0009617	response to bacterium		
http://purl.obolibrary.org/obo/GO_0002437	inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0006955	immune response		
http://purl.obolibrary.org/obo/GO_0002526	acute inflammatory response	http://purl.obolibrary.org/obo/GO_0006954	inflammatory response		
http://purl.obolibrary.org/obo/GO_0090594	inflammatory response to wounding	http://purl.obolibrary.org/obo/GO_0009611	response to wounding		
http://purl.obolibrary.org/obo/GO_0002250	adaptive immune response	http://purl.obolibrary.org/obo/GO_0006955	immune response		
http://purl.obolibrary.org/obo/GO_0002251	organ or tissue specific immune response	http://purl.obolibrary.org/obo/GO_0006955	immune response		
http://purl.obolibrary.org/obo/GO_0006959	humoral immune response	http://purl.obolibrary.org/obo/GO_0006955	immune response		
http://purl.obolibrary.org/obo/GO_0042092	type 2 immune response	http://purl.obolibrary.org/obo/GO_0006955	immune response		
http://purl.obolibrary.org/obo/GO_0045087	innate immune response	http://purl.obolibrary.org/obo/GO_0140546	defense response to symbiont		
http://purl.obolibrary.org/obo/GO_0001867	complement activation, lectin pathway	http://purl.obolibrary.org/obo/GO_0045087	innate immune response		
http://purl.obolibrary.org/obo/GO_0019730	antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0140546	defense response to symbiont		
http://purl.obolibrary.org/obo/GO_0007289	spermatid nucleus differentiation	http://purl.obolibrary.org/obo/GO_0006997	nucleus organization		
http://purl.obolibrary.org/obo/GO_0043217	myelin maintenance	http://purl.obolibrary.org/obo/GO_0007009	plasma membrane organization		
http://purl.obolibrary.org/obo/GO_0000226	microtubule cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0007017	microtubule-based process		
http://purl.obolibrary.org/obo/GO_0060097	cytoskeletal rearrangement involved in phagocytosis, engulfment	http://purl.obolibrary.org/obo/GO_0007010	cytoskeleton organization		
http://purl.obolibrary.org/obo/GO_0007018	microtubule-based movement	http://purl.obolibrary.org/obo/GO_0007017	microtubule-based process		
http://purl.obolibrary.org/obo/GO_0010970	transport along microtubule	http://purl.obolibrary.org/obo/GO_0099111	microtubule-based transport		
http://purl.obolibrary.org/obo/GO_0003341	cilium movement	http://purl.obolibrary.org/obo/GO_0007018	microtubule-based movement		
http://purl.obolibrary.org/obo/GO_0000278	mitotic cell cycle	http://purl.obolibrary.org/obo/GO_0007049	cell cycle		
http://purl.obolibrary.org/obo/GO_0051321	meiotic cell cycle	http://purl.obolibrary.org/obo/GO_0022414	reproductive process		
http://purl.obolibrary.org/obo/GO_0007267	cell-cell signaling	http://purl.obolibrary.org/obo/GO_0023052	signaling		
http://purl.obolibrary.org/obo/GO_0086065	cell communication involved in cardiac conduction	http://purl.obolibrary.org/obo/GO_0007154	cell communication		
http://purl.obolibrary.org/obo/GO_0098609	cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0007155	cell adhesion		
http://purl.obolibrary.org/obo/GO_0002764	immune response-regulating signaling pathway	http://purl.obolibrary.org/obo/GO_0050776	regulation of immune response		
http://purl.obolibrary.org/obo/GO_0007166	cell surface receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0007165	signal transduction		
http://purl.obolibrary.org/obo/GO_0009755	hormone-mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0007165	signal transduction		
http://purl.obolibrary.org/obo/GO_0035556	intracellular signal transduction	http://purl.obolibrary.org/obo/GO_0007165	signal transduction		
http://purl.obolibrary.org/obo/GO_0097190	apoptotic signaling pathway	http://purl.obolibrary.org/obo/GO_0007165	signal transduction		
http://purl.obolibrary.org/obo/GO_0023019	signal transduction involved in regulation of gene expression	http://purl.obolibrary.org/obo/GO_0007165	signal transduction		
http://purl.obolibrary.org/obo/GO_1990806	ligand-gated ion channel signaling pathway	http://purl.obolibrary.org/obo/GO_0007165	signal transduction		
http://purl.obolibrary.org/obo/GO_0007215	glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0007166	cell surface receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0019221	cytokine-mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0007166	cell surface receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0061311	cell surface receptor signaling pathway involved in heart development	http://purl.obolibrary.org/obo/GO_0007166	cell surface receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0023035	CD40 signaling pathway	http://purl.obolibrary.org/obo/GO_0007166	cell surface receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0038065	collagen-activated signaling pathway	http://purl.obolibrary.org/obo/GO_0007166	cell surface receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0099565	chemical synaptic transmission, postsynaptic	http://purl.obolibrary.org/obo/GO_0050877	nervous system process		
http://purl.obolibrary.org/obo/GO_0007499	ectoderm and mesoderm interaction	http://purl.obolibrary.org/obo/GO_0007267	cell-cell signaling		
http://purl.obolibrary.org/obo/GO_0045168	cell-cell signaling involved in cell fate commitment	http://purl.obolibrary.org/obo/GO_0007267	cell-cell signaling		
http://purl.obolibrary.org/obo/GO_0099536	synaptic signaling	http://purl.obolibrary.org/obo/GO_0007267	cell-cell signaling		
http://purl.obolibrary.org/obo/GO_0060764	cell-cell signaling involved in mammary gland development	http://purl.obolibrary.org/obo/GO_0007267	cell-cell signaling		
http://purl.obolibrary.org/obo/GO_0014055	acetylcholine secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0061526	acetylcholine secretion		
http://purl.obolibrary.org/obo/GO_0014860	neurotransmitter secretion involved in regulation of skeletal muscle contraction	http://purl.obolibrary.org/obo/GO_0007269	neurotransmitter secretion		
http://purl.obolibrary.org/obo/GO_0061534	gamma-aminobutyric acid secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0014051	gamma-aminobutyric acid secretion		
http://purl.obolibrary.org/obo/GO_0061535	glutamate secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0051938	L-glutamate import		
http://purl.obolibrary.org/obo/GO_0002164	larval development	http://purl.obolibrary.org/obo/GO_0009791	post-embryonic development		
http://purl.obolibrary.org/obo/GO_0009790	embryo development	http://purl.obolibrary.org/obo/GO_0007275	multicellular organism development		
http://purl.obolibrary.org/obo/GO_0001654	eye development	http://purl.obolibrary.org/obo/GO_0007423	sensory organ development		
http://purl.obolibrary.org/obo/GO_0007622	rhythmic behavior	http://purl.obolibrary.org/obo/GO_0007610	behavior		
http://purl.obolibrary.org/obo/GO_0007626	locomotory behavior	http://purl.obolibrary.org/obo/GO_0007610	behavior		
http://purl.obolibrary.org/obo/GO_0007631	feeding behavior	http://purl.obolibrary.org/obo/GO_0007610	behavior		
http://purl.obolibrary.org/obo/GO_0035176	social behavior	http://purl.obolibrary.org/obo/GO_0051703	biological process involved in intraspecies interaction between organisms		
http://purl.obolibrary.org/obo/GO_0071625	vocalization behavior	http://purl.obolibrary.org/obo/GO_0007610	behavior		
http://purl.obolibrary.org/obo/GO_0042755	eating behavior	http://purl.obolibrary.org/obo/GO_0007631	feeding behavior		
http://purl.obolibrary.org/obo/GO_0042756	drinking behavior	http://purl.obolibrary.org/obo/GO_0007631	feeding behavior		
http://purl.obolibrary.org/obo/GO_0002027	regulation of heart rate	http://purl.obolibrary.org/obo/GO_0065008	regulation of biological quality		
http://purl.obolibrary.org/obo/GO_1903779	regulation of cardiac conduction	http://purl.obolibrary.org/obo/GO_0008016	regulation of heart contraction		
http://purl.obolibrary.org/obo/GO_0061337	cardiac conduction	http://purl.obolibrary.org/obo/GO_0008016	regulation of heart contraction		
http://purl.obolibrary.org/obo/GO_0019209	kinase activator activity	http://purl.obolibrary.org/obo/GO_0019207	kinase regulator activity		
http://purl.obolibrary.org/obo/GO_0019211	phosphatase activator activity	http://purl.obolibrary.org/obo/GO_0019208	phosphatase regulator activity		
http://purl.obolibrary.org/obo/GO_0016504	peptidase activator activity	http://purl.obolibrary.org/obo/GO_0061134	peptidase regulator activity		
http://purl.obolibrary.org/obo/ENVO_01001617	snow accumulation process	http://purl.obolibrary.org/obo/ENVO_03000009	material accumulation process		
http://purl.obolibrary.org/obo/GO_0048511	rhythmic process	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0050896	response to stimulus	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0065007	biological regulation	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0002376	immune system process	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0009987	cellular process	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0022414	reproductive process	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0032502	developmental process	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0040007	growth	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0042592	homeostatic process	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0044848	biological phase	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0040011	locomotion	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0043473	pigmentation	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0051179	localization	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0044419	biological process involved in interspecies interaction between organisms	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0051703	biological process involved in intraspecies interaction between organisms	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/GO_0098754	detoxification	http://purl.obolibrary.org/obo/GO_0008150	biological_process		
http://purl.obolibrary.org/obo/ENVO_01001205	lithification	http://purl.obolibrary.org/obo/ENVO_03000043	material transformation process		
http://purl.obolibrary.org/obo/GO_0008172	S-methyltransferase activity	http://purl.obolibrary.org/obo/GO_0008168	methyltransferase activity		
http://purl.obolibrary.org/obo/GO_0008757	S-adenosylmethionine-dependent methyltransferase activity	http://purl.obolibrary.org/obo/GO_0008168	methyltransferase activity		
http://purl.obolibrary.org/obo/GO_0008119	thiopurine S-methyltransferase activity	http://purl.obolibrary.org/obo/GO_0008757	S-adenosylmethionine-dependent methyltransferase activity		
http://purl.obolibrary.org/obo/GO_0006699	bile acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0072330	monocarboxylic acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0003073	regulation of systemic arterial blood pressure	http://purl.obolibrary.org/obo/GO_0008217	regulation of blood pressure		
http://purl.obolibrary.org/obo/GO_0070008	serine-type exopeptidase activity	http://purl.obolibrary.org/obo/GO_0008238	exopeptidase activity		
http://purl.obolibrary.org/obo/GO_0004177	aminopeptidase activity	http://purl.obolibrary.org/obo/GO_0008238	exopeptidase activity		
http://purl.obolibrary.org/obo/GO_0010463	mesenchymal cell proliferation	http://purl.obolibrary.org/obo/GO_0008283	cell population proliferation		
http://purl.obolibrary.org/obo/GO_0050673	epithelial cell proliferation	http://purl.obolibrary.org/obo/GO_0008283	cell population proliferation		
http://purl.obolibrary.org/obo/GO_0002053	positive regulation of mesenchymal cell proliferation	http://purl.obolibrary.org/obo/GO_0010464	regulation of mesenchymal cell proliferation		
http://purl.obolibrary.org/obo/GO_0050679	positive regulation of epithelial cell proliferation	http://purl.obolibrary.org/obo/GO_0050678	regulation of epithelial cell proliferation		
http://purl.obolibrary.org/obo/GO_0005496	steroid binding	http://purl.obolibrary.org/obo/GO_0008289	lipid binding		
http://purl.obolibrary.org/obo/GO_0046873	metal ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0008324	monoatomic cation transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0047291	lactosylceramide alpha-2,3-sialyltransferase activity	http://purl.obolibrary.org/obo/GO_0008373	sialyltransferase activity		
http://purl.obolibrary.org/obo/GO_0016406	carnitine O-acyltransferase activity	http://purl.obolibrary.org/obo/GO_0008374	O-acyltransferase activity		
http://purl.obolibrary.org/obo/GO_0004509	steroid 21-monooxygenase activity	http://purl.obolibrary.org/obo/GO_0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen		
http://purl.obolibrary.org/obo/GO_0030343	vitamin D3 25-hydroxylase activity	http://purl.obolibrary.org/obo/GO_0008395	steroid hydroxylase activity		
http://purl.obolibrary.org/obo/GO_0003872	6-phosphofructokinase activity	http://purl.obolibrary.org/obo/GO_0008443	phosphofructokinase activity		
http://purl.obolibrary.org/obo/GO_0004773	steryl-sulfatase activity	http://purl.obolibrary.org/obo/GO_0008484	sulfuric ester hydrolase activity		
http://purl.obolibrary.org/obo/GO_0003943	N-acetylgalactosamine-4-sulfatase activity	http://purl.obolibrary.org/obo/GO_0008484	sulfuric ester hydrolase activity		
http://purl.obolibrary.org/obo/GO_0004423	iduronate-2-sulfatase activity	http://purl.obolibrary.org/obo/GO_0008484	sulfuric ester hydrolase activity		
http://purl.obolibrary.org/obo/GO_1901607	alpha-amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_1901605	alpha-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0030731	guanidinoacetate N-methyltransferase activity	http://purl.obolibrary.org/obo/GO_0008757	S-adenosylmethionine-dependent methyltransferase activity		
http://purl.obolibrary.org/obo/GO_0042446	hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0042445	hormone metabolic process		
http://purl.obolibrary.org/obo/GO_0000050	urea cycle	http://purl.obolibrary.org/obo/GO_0019627	urea metabolic process		
http://purl.obolibrary.org/obo/GO_1901336	lactone biosynthetic process	http://purl.obolibrary.org/obo/GO_1901334	lactone metabolic process		
http://purl.obolibrary.org/obo/GO_1901503	ether biosynthetic process	http://purl.obolibrary.org/obo/GO_0009058	biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009309	amine biosynthetic process	http://purl.obolibrary.org/obo/GO_0009308	amine metabolic process		
http://purl.obolibrary.org/obo/GO_0042158	lipoprotein biosynthetic process	http://purl.obolibrary.org/obo/GO_0042157	lipoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_0006414	translational elongation	http://purl.obolibrary.org/obo/GO_0009059	macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010467	gene expression	http://purl.obolibrary.org/obo/GO_0009059	macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_1901606	alpha-amino acid catabolic process	http://purl.obolibrary.org/obo/GO_0046395	carboxylic acid catabolic process		
http://purl.obolibrary.org/obo/GO_0009450	GABA catabolic process	http://purl.obolibrary.org/obo/GO_0170044	non-proteinogenic amino acid catabolic process		
http://purl.obolibrary.org/obo/GO_0030073	insulin secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0070459	prolactin secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0002007	detection of hypoxic conditions in blood by chemoreceptor signaling	http://purl.obolibrary.org/obo/GO_0009593	detection of chemical stimulus		
http://purl.obolibrary.org/obo/GO_0003030	detection of hydrogen ion	http://purl.obolibrary.org/obo/GO_0009593	detection of chemical stimulus		
http://purl.obolibrary.org/obo/GO_0003032	detection of oxygen	http://purl.obolibrary.org/obo/GO_0070482	response to oxygen levels		
http://purl.obolibrary.org/obo/GO_0060004	reflex	http://purl.obolibrary.org/obo/GO_0009605	response to external stimulus		
http://purl.obolibrary.org/obo/GO_0001964	startle response	http://purl.obolibrary.org/obo/GO_0050905	neuromuscular process		
http://purl.obolibrary.org/obo/GO_0043207	response to external biotic stimulus	http://purl.obolibrary.org/obo/GO_0009607	response to biotic stimulus		
http://purl.obolibrary.org/obo/GO_0071496	cellular response to external stimulus	http://purl.obolibrary.org/obo/GO_0009605	response to external stimulus		
http://purl.obolibrary.org/obo/GO_0009581	detection of external stimulus	http://purl.obolibrary.org/obo/GO_0051606	detection of stimulus		
http://purl.obolibrary.org/obo/GO_0042060	wound healing	http://purl.obolibrary.org/obo/GO_0009611	response to wounding		
http://purl.obolibrary.org/obo/GO_0035239	tube morphogenesis	http://purl.obolibrary.org/obo/GO_0009653	anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_0000902	cell morphogenesis	http://purl.obolibrary.org/obo/GO_0009653	anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_0001763	morphogenesis of a branching structure	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0002089	lens morphogenesis in camera-type eye	http://purl.obolibrary.org/obo/GO_0009653	anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_0009887	animal organ morphogenesis	http://purl.obolibrary.org/obo/GO_0009653	anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_0048598	embryonic morphogenesis	http://purl.obolibrary.org/obo/GO_0009653	anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_0048729	tissue morphogenesis	http://purl.obolibrary.org/obo/GO_0009653	anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_0048858	cell projection morphogenesis	http://purl.obolibrary.org/obo/GO_0030030	cell projection organization		
http://purl.obolibrary.org/obo/GO_0043401	steroid hormone receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0009755	hormone-mediated signaling pathway		
http://purl.obolibrary.org/obo/GO_0070561	vitamin D receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0141193	nuclear receptor-mediated signaling pathway		
http://purl.obolibrary.org/obo/GO_0043009	chordate embryonic development	http://purl.obolibrary.org/obo/GO_0009792	embryo development ending in birth or egg hatching		
http://purl.obolibrary.org/obo/GO_0048705	skeletal system morphogenesis	http://purl.obolibrary.org/obo/GO_0009887	animal organ morphogenesis		
http://purl.obolibrary.org/obo/GO_0042476	odontogenesis	http://purl.obolibrary.org/obo/GO_0009887	animal organ morphogenesis		
http://purl.obolibrary.org/obo/GO_0090596	sensory organ morphogenesis	http://purl.obolibrary.org/obo/GO_0009887	animal organ morphogenesis		
http://purl.obolibrary.org/obo/GO_0060349	bone morphogenesis	http://purl.obolibrary.org/obo/GO_0009887	animal organ morphogenesis		
http://purl.obolibrary.org/obo/GO_0007498	mesoderm development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0007398	ectoderm development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0007492	endoderm development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0060429	epithelium development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0060485	mesenchyme development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0061448	connective tissue development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0031214	biomineral tissue development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0008544	epidermis development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0060537	muscle tissue development	http://purl.obolibrary.org/obo/GO_0009888	tissue development		
http://purl.obolibrary.org/obo/GO_0030216	keratinocyte differentiation	http://purl.obolibrary.org/obo/GO_0009913	epidermal cell differentiation		
http://purl.obolibrary.org/obo/GO_0046879	hormone secretion	http://purl.obolibrary.org/obo/GO_0023061	signal release		
http://purl.obolibrary.org/obo/GO_0070327	thyroid hormone transport	http://purl.obolibrary.org/obo/GO_0009914	hormone transport		
http://purl.obolibrary.org/obo/GO_0010469	regulation of signaling receptor activity	http://purl.obolibrary.org/obo/GO_0065009	regulation of molecular function		
http://purl.obolibrary.org/obo/GO_0001959	regulation of cytokine-mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0060759	regulation of response to cytokine stimulus		
http://purl.obolibrary.org/obo/GO_0009967	positive regulation of signal transduction	http://purl.obolibrary.org/obo/GO_0010647	positive regulation of cell communication		
http://purl.obolibrary.org/obo/GO_0009968	negative regulation of signal transduction	http://purl.obolibrary.org/obo/GO_0010648	negative regulation of cell communication		
http://purl.obolibrary.org/obo/GO_1900115	extracellular regulation of signal transduction	http://purl.obolibrary.org/obo/GO_0009966	regulation of signal transduction		
http://purl.obolibrary.org/obo/GO_1900449	regulation of glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0009966	regulation of signal transduction		
http://purl.obolibrary.org/obo/GO_2001233	regulation of apoptotic signaling pathway	http://purl.obolibrary.org/obo/GO_0042981	regulation of apoptotic process		
http://purl.obolibrary.org/obo/GO_2000348	regulation of CD40 signaling pathway	http://purl.obolibrary.org/obo/GO_0009966	regulation of signal transduction		
http://purl.obolibrary.org/obo/GO_0098815	modulation of excitatory postsynaptic potential	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_1902531	regulation of intracellular signal transduction	http://purl.obolibrary.org/obo/GO_0009966	regulation of signal transduction		
http://purl.obolibrary.org/obo/GO_1900451	positive regulation of glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1900449	regulation of glutamate receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_2001235	positive regulation of apoptotic signaling pathway	http://purl.obolibrary.org/obo/GO_0043065	positive regulation of apoptotic process		
http://purl.obolibrary.org/obo/GO_2000350	positive regulation of CD40 signaling pathway	http://purl.obolibrary.org/obo/GO_2000348	regulation of CD40 signaling pathway		
http://purl.obolibrary.org/obo/GO_2000463	positive regulation of excitatory postsynaptic potential	http://purl.obolibrary.org/obo/GO_0098815	modulation of excitatory postsynaptic potential		
http://purl.obolibrary.org/obo/GO_1902533	positive regulation of intracellular signal transduction	http://purl.obolibrary.org/obo/GO_1902531	regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0060302	negative regulation of cytokine activity	http://purl.obolibrary.org/obo/GO_0060300	regulation of cytokine activity		
http://purl.obolibrary.org/obo/GO_1900116	extracellular negative regulation of signal transduction	http://purl.obolibrary.org/obo/GO_1900115	extracellular regulation of signal transduction		
http://purl.obolibrary.org/obo/GO_1900450	negative regulation of glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1900449	regulation of glutamate receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_2000349	negative regulation of CD40 signaling pathway	http://purl.obolibrary.org/obo/GO_2000348	regulation of CD40 signaling pathway		
http://purl.obolibrary.org/obo/GO_1902532	negative regulation of intracellular signal transduction	http://purl.obolibrary.org/obo/GO_1902531	regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0006903	vesicle targeting	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0007272	ensheathment of neurons	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0008037	cell recognition	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0008152	metabolic process	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0097194	execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0051641	cellular localization	http://purl.obolibrary.org/obo/GO_0051179	localization		
http://purl.obolibrary.org/obo/GO_0140253	cell-cell fusion	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0001775	cell activation	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0001906	cell killing	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0007017	microtubule-based process	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0007049	cell cycle	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0007154	cell communication	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0007155	cell adhesion	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0007165	signal transduction	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0008283	cell population proliferation	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0022402	cell cycle process	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0048869	cellular developmental process	http://purl.obolibrary.org/obo/GO_0032502	developmental process		
http://purl.obolibrary.org/obo/GO_0048870	cell motility	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0051301	cell division	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0033059	cellular pigmentation	http://purl.obolibrary.org/obo/GO_0043473	pigmentation		
http://purl.obolibrary.org/obo/GO_0051674	localization of cell	http://purl.obolibrary.org/obo/GO_0051179	localization		
http://purl.obolibrary.org/obo/GO_0140029	exocytic process	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0008219	cell death	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0022406	membrane docking	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0071840	cellular component organization or biogenesis	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_1990748	cellular detoxification	http://purl.obolibrary.org/obo/GO_0098754	detoxification		
http://purl.obolibrary.org/obo/GO_0170062	nutrient storage	http://purl.obolibrary.org/obo/GO_0009987	cellular process		
http://purl.obolibrary.org/obo/GO_0014037	Schwann cell differentiation	http://purl.obolibrary.org/obo/GO_0010001	glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0048709	oligodendrocyte differentiation	http://purl.obolibrary.org/obo/GO_0010001	glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0072201	negative regulation of mesenchymal cell proliferation	http://purl.obolibrary.org/obo/GO_0008285	negative regulation of cell population proliferation		
http://purl.obolibrary.org/obo/GO_0001816	cytokine production	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_1901148	gene expression involved in extracellular matrix organization	http://purl.obolibrary.org/obo/GO_0010467	gene expression		
http://purl.obolibrary.org/obo/GO_0140053	mitochondrial gene expression	http://purl.obolibrary.org/obo/GO_0010467	gene expression		
http://purl.obolibrary.org/obo/GO_0010608	post-transcriptional regulation of gene expression	http://purl.obolibrary.org/obo/GO_0010468	regulation of gene expression		
http://purl.obolibrary.org/obo/GO_0010629	negative regulation of gene expression	http://purl.obolibrary.org/obo/GO_0010558	negative regulation of macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0001817	regulation of cytokine production	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0006355	regulation of DNA-templated transcription	http://purl.obolibrary.org/obo/GO_2001141	regulation of RNA biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010628	positive regulation of gene expression	http://purl.obolibrary.org/obo/GO_0010557	positive regulation of macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_1903317	regulation of protein maturation	http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0010468	regulation of gene expression	http://purl.obolibrary.org/obo/GO_0010556	regulation of macromolecule biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010557	positive regulation of macromolecule biosynthetic process	http://purl.obolibrary.org/obo/GO_0009891	positive regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010558	negative regulation of macromolecule biosynthetic process	http://purl.obolibrary.org/obo/GO_0009890	negative regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_2001141	regulation of RNA biosynthetic process	http://purl.obolibrary.org/obo/GO_0051252	regulation of RNA metabolic process		
http://purl.obolibrary.org/obo/GO_0010559	regulation of glycoprotein biosynthetic process	http://purl.obolibrary.org/obo/GO_1903018	regulation of glycoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_1903059	regulation of protein lipidation	http://purl.obolibrary.org/obo/GO_0050746	regulation of lipoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_1902680	positive regulation of RNA biosynthetic process	http://purl.obolibrary.org/obo/GO_2001141	regulation of RNA biosynthetic process		
http://purl.obolibrary.org/obo/GO_1900127	positive regulation of hyaluronan biosynthetic process	http://purl.obolibrary.org/obo/GO_0045913	positive regulation of carbohydrate metabolic process		
http://purl.obolibrary.org/obo/GO_0010560	positive regulation of glycoprotein biosynthetic process	http://purl.obolibrary.org/obo/GO_1903020	positive regulation of glycoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_1902679	negative regulation of RNA biosynthetic process	http://purl.obolibrary.org/obo/GO_0051253	negative regulation of RNA metabolic process		
http://purl.obolibrary.org/obo/GO_1900126	negative regulation of hyaluronan biosynthetic process	http://purl.obolibrary.org/obo/GO_0045912	negative regulation of carbohydrate metabolic process		
http://purl.obolibrary.org/obo/GO_0010561	negative regulation of glycoprotein biosynthetic process	http://purl.obolibrary.org/obo/GO_1903019	negative regulation of glycoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_1903060	negative regulation of protein lipidation	http://purl.obolibrary.org/obo/GO_1903059	regulation of protein lipidation		
http://purl.obolibrary.org/obo/GO_0051254	positive regulation of RNA metabolic process	http://purl.obolibrary.org/obo/GO_0051252	regulation of RNA metabolic process		
http://purl.obolibrary.org/obo/GO_0051054	positive regulation of DNA metabolic process	http://purl.obolibrary.org/obo/GO_0051052	regulation of DNA metabolic process		
http://purl.obolibrary.org/obo/GO_0051247	positive regulation of protein metabolic process	http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0051053	negative regulation of DNA metabolic process	http://purl.obolibrary.org/obo/GO_0045934	negative regulation of nucleobase-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0051248	negative regulation of protein metabolic process	http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0051253	negative regulation of RNA metabolic process	http://purl.obolibrary.org/obo/GO_0045934	negative regulation of nucleobase-containing compound metabolic process		
http://purl.obolibrary.org/obo/GO_0046883	regulation of hormone secretion	http://purl.obolibrary.org/obo/GO_1903530	regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_0099177	regulation of trans-synaptic signaling	http://purl.obolibrary.org/obo/GO_0023051	regulation of signaling		
http://purl.obolibrary.org/obo/GO_0009966	regulation of signal transduction	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0051969	regulation of transmission of nerve impulse	http://purl.obolibrary.org/obo/GO_0031644	regulation of nervous system process		
http://purl.obolibrary.org/obo/GO_0010647	positive regulation of cell communication	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0032350	regulation of hormone metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0034756	regulation of iron ion transport	http://purl.obolibrary.org/obo/GO_0010959	regulation of metal ion transport		
http://purl.obolibrary.org/obo/GO_0051924	regulation of calcium ion transport	http://purl.obolibrary.org/obo/GO_0010959	regulation of metal ion transport		
http://purl.obolibrary.org/obo/GO_0006915	apoptotic process	http://purl.obolibrary.org/obo/GO_0012501	programmed cell death		
http://purl.obolibrary.org/obo/GO_0010623	programmed cell death involved in cell development	http://purl.obolibrary.org/obo/GO_0048869	cellular developmental process		
http://purl.obolibrary.org/obo/GO_0061308	cardiac neural crest cell development involved in heart development	http://purl.obolibrary.org/obo/GO_0014032	neural crest cell development		
http://purl.obolibrary.org/obo/GO_0048738	cardiac muscle tissue development	http://purl.obolibrary.org/obo/GO_0014706	striated muscle tissue development		
http://purl.obolibrary.org/obo/GO_0015068	glycine amidinotransferase activity	http://purl.obolibrary.org/obo/GO_0015067	amidinotransferase activity		
http://purl.obolibrary.org/obo/GO_0015349	thyroid hormone transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015291	secondary active transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0098871	postsynaptic actin cytoskeleton	http://purl.obolibrary.org/obo/GO_0099571	postsynaptic cytoskeleton		
http://purl.obolibrary.org/obo/GO_0046942	carboxylic acid transport	http://purl.obolibrary.org/obo/GO_0015849	organic acid transport		
http://purl.obolibrary.org/obo/GO_0015701	bicarbonate transport	http://purl.obolibrary.org/obo/GO_0015711	organic anion transport		
http://purl.obolibrary.org/obo/GO_0015760	glucose-6-phosphate transport	http://purl.obolibrary.org/obo/GO_0015712	hexose phosphate transport		
http://purl.obolibrary.org/obo/GO_0015712	hexose phosphate transport	http://purl.obolibrary.org/obo/GO_1901264	carbohydrate derivative transport		
http://purl.obolibrary.org/obo/GO_0002790	peptide secretion	http://purl.obolibrary.org/obo/GO_0046903	secretion		
http://purl.obolibrary.org/obo/GO_0090599	alpha-glucosidase activity	http://purl.obolibrary.org/obo/GO_0015926	glucosidase activity		
http://purl.obolibrary.org/obo/GO_0004561	alpha-N-acetylglucosaminidase activity	http://purl.obolibrary.org/obo/GO_0015929	hexosaminidase activity		
http://purl.obolibrary.org/obo/GO_0004563	beta-N-acetylhexosaminidase activity	http://purl.obolibrary.org/obo/GO_0015929	hexosaminidase activity		
http://purl.obolibrary.org/obo/GO_0004415	hyalurononglucosaminidase activity	http://purl.obolibrary.org/obo/GO_0015929	hexosaminidase activity		
http://purl.obolibrary.org/obo/GO_0008456	alpha-N-acetylgalactosaminidase activity	http://purl.obolibrary.org/obo/GO_0015929	hexosaminidase activity		
http://purl.obolibrary.org/obo/GO_0006906	vesicle fusion	http://purl.obolibrary.org/obo/GO_0090174	organelle membrane fusion		
http://purl.obolibrary.org/obo/GO_0033363	secretory granule organization	http://purl.obolibrary.org/obo/GO_0016050	vesicle organization		
http://purl.obolibrary.org/obo/GO_0071971	extracellular exosome assembly	http://purl.obolibrary.org/obo/GO_0070925	organelle assembly		
http://purl.obolibrary.org/obo/GO_0006399	tRNA metabolic process	http://purl.obolibrary.org/obo/GO_0016070	RNA metabolic process		
http://purl.obolibrary.org/obo/GO_0000959	mitochondrial RNA metabolic process	http://purl.obolibrary.org/obo/GO_0016070	RNA metabolic process		
http://purl.obolibrary.org/obo/GO_0001523	retinoid metabolic process	http://purl.obolibrary.org/obo/GO_0016101	diterpenoid metabolic process		
http://purl.obolibrary.org/obo/GO_0004618	phosphoglycerate kinase activity	http://purl.obolibrary.org/obo/GO_0016774	phosphotransferase activity, carboxyl group as acceptor		
http://purl.obolibrary.org/obo/GO_0004672	protein kinase activity	http://purl.obolibrary.org/obo/GO_0140096	catalytic activity, acting on a protein		
http://purl.obolibrary.org/obo/GO_0004370	glycerol kinase activity	http://purl.obolibrary.org/obo/GO_0016773	phosphotransferase activity, alcohol group as acceptor		
http://purl.obolibrary.org/obo/GO_0019200	carbohydrate kinase activity	http://purl.obolibrary.org/obo/GO_0016301	kinase activity		
http://purl.obolibrary.org/obo/GO_0004092	carnitine O-acetyltransferase activity	http://purl.obolibrary.org/obo/GO_0016413	O-acetyltransferase activity		
http://purl.obolibrary.org/obo/GO_0016454	C-palmitoyltransferase activity	http://purl.obolibrary.org/obo/GO_0016409	palmitoyltransferase activity		
http://purl.obolibrary.org/obo/GO_0004485	methylcrotonoyl-CoA carboxylase activity	http://purl.obolibrary.org/obo/GO_0016421	CoA carboxylase activity		
http://purl.obolibrary.org/obo/GO_0002208	somatic diversification of immunoglobulins involved in immune response	http://purl.obolibrary.org/obo/GO_0016445	somatic diversification of immunoglobulins		
http://purl.obolibrary.org/obo/GO_0033152	immunoglobulin V(D)J recombination	http://purl.obolibrary.org/obo/GO_0033151	V(D)J recombination		
http://purl.obolibrary.org/obo/GO_0017111	ribonucleoside triphosphate phosphatase activity	http://purl.obolibrary.org/obo/GO_0016462	pyrophosphatase activity		
http://purl.obolibrary.org/obo/GO_0001667	ameboidal-type cell migration	http://purl.obolibrary.org/obo/GO_0016477	cell migration		
http://purl.obolibrary.org/obo/GO_0001764	neuron migration	http://purl.obolibrary.org/obo/GO_0016477	cell migration		
http://purl.obolibrary.org/obo/GO_0060973	cell migration involved in heart development	http://purl.obolibrary.org/obo/GO_0016477	cell migration		
http://purl.obolibrary.org/obo/GO_0035441	cell migration involved in vasculogenesis	http://purl.obolibrary.org/obo/GO_0016477	cell migration		
http://purl.obolibrary.org/obo/GO_0006624	vacuolar protein processing	http://purl.obolibrary.org/obo/GO_0016485	protein processing		
http://purl.obolibrary.org/obo/GO_0034982	mitochondrial protein processing	http://purl.obolibrary.org/obo/GO_0016485	protein processing		
http://purl.obolibrary.org/obo/GO_0004497	monooxygenase activity	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016645	oxidoreductase activity, acting on the CH-NH group of donors	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016684	oxidoreductase activity, acting on peroxide as acceptor	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016903	oxidoreductase activity, acting on the aldehyde or oxo group of donors	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016614	oxidoreductase activity, acting on CH-OH group of donors	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016627	oxidoreductase activity, acting on the CH-CH group of donors	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016651	oxidoreductase activity, acting on NAD(P)H	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016229	steroid dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0016667	oxidoreductase activity, acting on a sulfur group of donors	http://purl.obolibrary.org/obo/GO_0016491	oxidoreductase activity		
http://purl.obolibrary.org/obo/GO_0004457	lactate dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0016614	oxidoreductase activity, acting on CH-OH group of donors		
http://purl.obolibrary.org/obo/GO_0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	http://purl.obolibrary.org/obo/GO_0016614	oxidoreductase activity, acting on CH-OH group of donors		
http://purl.obolibrary.org/obo/GO_0004757	sepiapterin reductase (NADP+) activity	http://purl.obolibrary.org/obo/GO_0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0004345	glucose-6-phosphate dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0033764	steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	http://purl.obolibrary.org/obo/GO_0016229	steroid dehydrogenase activity		
http://purl.obolibrary.org/obo/GO_0003842	L-glutamate gamma-semialdehyde dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0004030	aldehyde dehydrogenase [NAD(P)+] activity	http://purl.obolibrary.org/obo/GO_0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0043891	glyceraldehyde-3-phosphate dehydrogenase [NAD(P)+] (phosphorylating) activity	http://purl.obolibrary.org/obo/GO_0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	http://purl.obolibrary.org/obo/GO_0016627	oxidoreductase activity, acting on the CH-CH group of donors		
http://purl.obolibrary.org/obo/GO_0052890	oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor	http://purl.obolibrary.org/obo/GO_0016627	oxidoreductase activity, acting on the CH-CH group of donors		
http://purl.obolibrary.org/obo/GO_0047598	7-dehydrocholesterol reductase activity	http://purl.obolibrary.org/obo/GO_0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0004155	6,7-dihydropteridine reductase activity	http://purl.obolibrary.org/obo/GO_0016646	oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0050664	oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor	http://purl.obolibrary.org/obo/GO_0016651	oxidoreductase activity, acting on NAD(P)H		
http://purl.obolibrary.org/obo/GO_0018549	methanethiol oxidase activity	http://purl.obolibrary.org/obo/GO_0016670	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor		
http://purl.obolibrary.org/obo/GO_0008482	sulfite oxidase activity	http://purl.obolibrary.org/obo/GO_0016670	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor		
http://purl.obolibrary.org/obo/GO_0016741	transferase activity, transferring one-carbon groups	http://purl.obolibrary.org/obo/GO_0016740	transferase activity		
http://purl.obolibrary.org/obo/GO_0016765	transferase activity, transferring alkyl or aryl (other than methyl) groups	http://purl.obolibrary.org/obo/GO_0016740	transferase activity		
http://purl.obolibrary.org/obo/GO_0016746	acyltransferase activity	http://purl.obolibrary.org/obo/GO_0016740	transferase activity		
http://purl.obolibrary.org/obo/GO_0016757	glycosyltransferase activity	http://purl.obolibrary.org/obo/GO_0016740	transferase activity		
http://purl.obolibrary.org/obo/GO_0016769	transferase activity, transferring nitrogenous groups	http://purl.obolibrary.org/obo/GO_0016740	transferase activity		
http://purl.obolibrary.org/obo/GO_0016772	transferase activity, transferring phosphorus-containing groups	http://purl.obolibrary.org/obo/GO_0016740	transferase activity		
http://purl.obolibrary.org/obo/GO_0016407	acetyltransferase activity	http://purl.obolibrary.org/obo/GO_0016747	acyltransferase activity, transferring groups other than amino-acyl groups		
http://purl.obolibrary.org/obo/GO_0008374	O-acyltransferase activity	http://purl.obolibrary.org/obo/GO_0016747	acyltransferase activity, transferring groups other than amino-acyl groups		
http://purl.obolibrary.org/obo/GO_0016408	C-acyltransferase activity	http://purl.obolibrary.org/obo/GO_0016747	acyltransferase activity, transferring groups other than amino-acyl groups		
http://purl.obolibrary.org/obo/GO_0016410	N-acyltransferase activity	http://purl.obolibrary.org/obo/GO_0016747	acyltransferase activity, transferring groups other than amino-acyl groups		
http://purl.obolibrary.org/obo/GO_0016409	palmitoyltransferase activity	http://purl.obolibrary.org/obo/GO_0016747	acyltransferase activity, transferring groups other than amino-acyl groups		
http://purl.obolibrary.org/obo/GO_0000048	peptidyltransferase activity	http://purl.obolibrary.org/obo/GO_0140101	catalytic activity, acting on a tRNA		
http://purl.obolibrary.org/obo/GO_0003810	protein-glutamine gamma-glutamyltransferase activity	http://purl.obolibrary.org/obo/GO_0140096	catalytic activity, acting on a protein		
http://purl.obolibrary.org/obo/GO_0033844	galactose-6-sulfurylase activity	http://purl.obolibrary.org/obo/GO_0016765	transferase activity, transferring alkyl or aryl (other than methyl) groups		
http://purl.obolibrary.org/obo/GO_0004743	pyruvate kinase activity	http://purl.obolibrary.org/obo/GO_0016773	phosphotransferase activity, alcohol group as acceptor		
http://purl.obolibrary.org/obo/GO_0008443	phosphofructokinase activity	http://purl.obolibrary.org/obo/GO_0019200	carbohydrate kinase activity		
http://purl.obolibrary.org/obo/GO_0004749	ribose phosphate diphosphokinase activity	http://purl.obolibrary.org/obo/GO_0016778	diphosphotransferase activity		
http://purl.obolibrary.org/obo/GO_0016788	hydrolase activity, acting on ester bonds	http://purl.obolibrary.org/obo/GO_0016787	hydrolase activity		
http://purl.obolibrary.org/obo/GO_0016798	hydrolase activity, acting on glycosyl bonds	http://purl.obolibrary.org/obo/GO_0016787	hydrolase activity		
http://purl.obolibrary.org/obo/GO_0008233	peptidase activity	http://purl.obolibrary.org/obo/GO_0140096	catalytic activity, acting on a protein		
http://purl.obolibrary.org/obo/GO_0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	http://purl.obolibrary.org/obo/GO_0016787	hydrolase activity		
http://purl.obolibrary.org/obo/GO_0016817	hydrolase activity, acting on acid anhydrides	http://purl.obolibrary.org/obo/GO_0016787	hydrolase activity		
http://purl.obolibrary.org/obo/GO_0016825	hydrolase activity, acting on phosphorus-nitrogen bonds	http://purl.obolibrary.org/obo/GO_0016787	hydrolase activity		
http://purl.obolibrary.org/obo/GO_0016826	hydrolase activity, acting on sulfur-nitrogen bonds	http://purl.obolibrary.org/obo/GO_0016787	hydrolase activity		
http://purl.obolibrary.org/obo/GO_0017171	serine hydrolase activity	http://purl.obolibrary.org/obo/GO_0016787	hydrolase activity		
http://purl.obolibrary.org/obo/GO_0019203	carbohydrate phosphatase activity	http://purl.obolibrary.org/obo/GO_0016791	phosphatase activity		
http://purl.obolibrary.org/obo/GO_0047708	biotinidase activity	http://purl.obolibrary.org/obo/GO_0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides		
http://purl.obolibrary.org/obo/GO_0000224	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	http://purl.obolibrary.org/obo/GO_0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides		
http://purl.obolibrary.org/obo/GO_0004046	aminoacylase activity	http://purl.obolibrary.org/obo/GO_0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides		
http://purl.obolibrary.org/obo/GO_0017168	5-oxoprolinase (ATP-hydrolyzing) activity	http://purl.obolibrary.org/obo/GO_0016812	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides		
http://purl.obolibrary.org/obo/GO_0004000	adenosine deaminase activity	http://purl.obolibrary.org/obo/GO_0019239	deaminase activity		
http://purl.obolibrary.org/obo/GO_0016462	pyrophosphatase activity	http://purl.obolibrary.org/obo/GO_0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides		
http://purl.obolibrary.org/obo/GO_0016830	carbon-carbon lyase activity	http://purl.obolibrary.org/obo/GO_0016829	lyase activity		
http://purl.obolibrary.org/obo/GO_0016835	carbon-oxygen lyase activity	http://purl.obolibrary.org/obo/GO_0016829	lyase activity		
http://purl.obolibrary.org/obo/GO_0016840	carbon-nitrogen lyase activity	http://purl.obolibrary.org/obo/GO_0016829	lyase activity		
http://purl.obolibrary.org/obo/GO_0016831	carboxy-lyase activity	http://purl.obolibrary.org/obo/GO_0016830	carbon-carbon lyase activity		
http://purl.obolibrary.org/obo/GO_0016832	aldehyde-lyase activity	http://purl.obolibrary.org/obo/GO_0016830	carbon-carbon lyase activity		
http://purl.obolibrary.org/obo/GO_0004737	pyruvate decarboxylase activity	http://purl.obolibrary.org/obo/GO_0016831	carboxy-lyase activity		
http://purl.obolibrary.org/obo/GO_0004351	glutamate decarboxylase activity	http://purl.obolibrary.org/obo/GO_0016831	carboxy-lyase activity		
http://purl.obolibrary.org/obo/GO_0004332	fructose-bisphosphate aldolase activity	http://purl.obolibrary.org/obo/GO_0016832	aldehyde-lyase activity		
http://purl.obolibrary.org/obo/GO_0016836	hydro-lyase activity	http://purl.obolibrary.org/obo/GO_0016835	carbon-oxygen lyase activity		
http://purl.obolibrary.org/obo/GO_0004634	phosphopyruvate hydratase activity	http://purl.obolibrary.org/obo/GO_0016836	hydro-lyase activity		
http://purl.obolibrary.org/obo/GO_0047453	ATP-dependent NAD(P)H-hydrate dehydratase activity	http://purl.obolibrary.org/obo/GO_0016836	hydro-lyase activity		
http://purl.obolibrary.org/obo/GO_0070626	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity	http://purl.obolibrary.org/obo/GO_0016842	amidine-lyase activity		
http://purl.obolibrary.org/obo/GO_0016860	intramolecular oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0016853	isomerase activity		
http://purl.obolibrary.org/obo/GO_0016854	racemase and epimerase activity	http://purl.obolibrary.org/obo/GO_0016853	isomerase activity		
http://purl.obolibrary.org/obo/GO_0016866	intramolecular transferase activity	http://purl.obolibrary.org/obo/GO_0016853	isomerase activity		
http://purl.obolibrary.org/obo/GO_0052856	NAD(P)HX epimerase activity	http://purl.obolibrary.org/obo/GO_0016854	racemase and epimerase activity		
http://purl.obolibrary.org/obo/GO_0004807	triose-phosphate isomerase activity	http://purl.obolibrary.org/obo/GO_0016861	intramolecular oxidoreductase activity, interconverting aldoses and ketoses		
http://purl.obolibrary.org/obo/GO_0004347	glucose-6-phosphate isomerase activity	http://purl.obolibrary.org/obo/GO_0016861	intramolecular oxidoreductase activity, interconverting aldoses and ketoses		
http://purl.obolibrary.org/obo/GO_0016868	intramolecular phosphotransferase activity	http://purl.obolibrary.org/obo/GO_0016866	intramolecular transferase activity		
http://purl.obolibrary.org/obo/GO_0004614	phosphoglucomutase activity	http://purl.obolibrary.org/obo/GO_0016868	intramolecular phosphotransferase activity		
http://purl.obolibrary.org/obo/GO_0004619	phosphoglycerate mutase activity	http://purl.obolibrary.org/obo/GO_0016868	intramolecular phosphotransferase activity		
http://purl.obolibrary.org/obo/GO_0016885	ligase activity, forming carbon-carbon bonds	http://purl.obolibrary.org/obo/GO_0016874	ligase activity		
http://purl.obolibrary.org/obo/GO_0016879	ligase activity, forming carbon-nitrogen bonds	http://purl.obolibrary.org/obo/GO_0016874	ligase activity		
http://purl.obolibrary.org/obo/GO_0016881	acid-amino acid ligase activity	http://purl.obolibrary.org/obo/GO_0016879	ligase activity, forming carbon-nitrogen bonds		
http://purl.obolibrary.org/obo/GO_0004357	glutamate-cysteine ligase activity	http://purl.obolibrary.org/obo/GO_0016881	acid-amino acid ligase activity		
http://purl.obolibrary.org/obo/GO_0016887	ATP hydrolysis activity	http://purl.obolibrary.org/obo/GO_0017111	ribonucleoside triphosphate phosphatase activity		
http://purl.obolibrary.org/obo/GO_0045920	negative regulation of exocytosis	http://purl.obolibrary.org/obo/GO_1903531	negative regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_0045921	positive regulation of exocytosis	http://purl.obolibrary.org/obo/GO_1903532	positive regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_0045906	negative regulation of vasoconstriction	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0045907	positive regulation of vasoconstriction	http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0016064	immunoglobulin mediated immune response	http://purl.obolibrary.org/obo/GO_0019724	B cell mediated immunity		
http://purl.obolibrary.org/obo/GO_0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	http://purl.obolibrary.org/obo/GO_0019730	antimicrobial humoral response		
http://purl.obolibrary.org/obo/GO_0002504	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	http://purl.obolibrary.org/obo/GO_0019882	antigen processing and presentation		
http://purl.obolibrary.org/obo/GO_0019900	kinase binding	http://purl.obolibrary.org/obo/GO_0019899	enzyme binding		
http://purl.obolibrary.org/obo/GO_0002020	protease binding	http://purl.obolibrary.org/obo/GO_0019899	enzyme binding		
http://purl.obolibrary.org/obo/GO_0070063	RNA polymerase binding	http://purl.obolibrary.org/obo/GO_0019899	enzyme binding		
http://purl.obolibrary.org/obo/GO_0019902	phosphatase binding	http://purl.obolibrary.org/obo/GO_0019899	enzyme binding		
http://purl.obolibrary.org/obo/GO_0007059	chromosome segregation	http://purl.obolibrary.org/obo/GO_0022402	cell cycle process		
http://purl.obolibrary.org/obo/GO_1903046	meiotic cell cycle process	http://purl.obolibrary.org/obo/GO_0022414	reproductive process		
http://purl.obolibrary.org/obo/GO_1903047	mitotic cell cycle process	http://purl.obolibrary.org/obo/GO_0022402	cell cycle process		
http://purl.obolibrary.org/obo/GO_0001942	hair follicle development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0048820	hair follicle maturation	http://purl.obolibrary.org/obo/GO_0071695	anatomical structure maturation		
http://purl.obolibrary.org/obo/GO_0042701	progesterone secretion	http://purl.obolibrary.org/obo/GO_0035929	steroid hormone secretion		
http://purl.obolibrary.org/obo/GO_0007566	embryo implantation	http://purl.obolibrary.org/obo/GO_0022414	reproductive process		
http://purl.obolibrary.org/obo/GO_0009566	fertilization	http://purl.obolibrary.org/obo/GO_0022414	reproductive process		
http://purl.obolibrary.org/obo/GO_0048609	multicellular organismal reproductive process	http://purl.obolibrary.org/obo/GO_0022414	reproductive process		
http://purl.obolibrary.org/obo/GO_0003006	developmental process involved in reproduction	http://purl.obolibrary.org/obo/GO_0032502	developmental process		
http://purl.obolibrary.org/obo/GO_0019953	sexual reproduction	http://purl.obolibrary.org/obo/GO_0022414	reproductive process		
http://purl.obolibrary.org/obo/GO_0044703	multi-organism reproductive process	http://purl.obolibrary.org/obo/GO_0022414	reproductive process		
http://purl.obolibrary.org/obo/GO_0097722	sperm motility	http://purl.obolibrary.org/obo/GO_0048870	cell motility		
http://purl.obolibrary.org/obo/GO_0060474	positive regulation of flagellated sperm motility involved in capacitation	http://purl.obolibrary.org/obo/GO_1902093	positive regulation of flagellated sperm motility		
http://purl.obolibrary.org/obo/GO_0001696	gastric acid secretion	http://purl.obolibrary.org/obo/GO_0046717	acid secretion		
http://purl.obolibrary.org/obo/GO_0050892	intestinal absorption	http://purl.obolibrary.org/obo/GO_0022600	digestive system process		
http://purl.obolibrary.org/obo/GO_0071626	mastication	http://purl.obolibrary.org/obo/GO_0022600	digestive system process		
http://purl.obolibrary.org/obo/GO_0001553	luteinization	http://purl.obolibrary.org/obo/GO_0022602	ovulation cycle process		
http://purl.obolibrary.org/obo/GO_1905651	regulation of artery morphogenesis	http://purl.obolibrary.org/obo/GO_0022603	regulation of anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_1905330	regulation of morphogenesis of an epithelium	http://purl.obolibrary.org/obo/GO_0022603	regulation of anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_2000027	regulation of animal organ morphogenesis	http://purl.obolibrary.org/obo/GO_0022603	regulation of anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_0050770	regulation of axonogenesis	http://purl.obolibrary.org/obo/GO_0010975	regulation of neuron projection development		
http://purl.obolibrary.org/obo/GO_0010470	regulation of gastrulation	http://purl.obolibrary.org/obo/GO_0045995	regulation of embryonic development		
http://purl.obolibrary.org/obo/GO_0022604	regulation of cell morphogenesis	http://purl.obolibrary.org/obo/GO_0022603	regulation of anatomical structure morphogenesis		
http://purl.obolibrary.org/obo/GO_0045765	regulation of angiogenesis	http://purl.obolibrary.org/obo/GO_1901342	regulation of vasculature development		
http://purl.obolibrary.org/obo/GO_2000181	negative regulation of blood vessel morphogenesis	http://purl.obolibrary.org/obo/GO_1901343	negative regulation of vasculature development		
http://purl.obolibrary.org/obo/GO_0060688	regulation of morphogenesis of a branching structure	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0030031	cell projection assembly	http://purl.obolibrary.org/obo/GO_0030030	cell projection organization		
http://purl.obolibrary.org/obo/GO_0065003	protein-containing complex assembly	http://purl.obolibrary.org/obo/GO_0043933	protein-containing complex organization		
http://purl.obolibrary.org/obo/GO_0010927	cellular component assembly involved in morphogenesis	http://purl.obolibrary.org/obo/GO_0048646	anatomical structure formation involved in morphogenesis		
http://purl.obolibrary.org/obo/GO_1905349	ciliary transition zone assembly	http://purl.obolibrary.org/obo/GO_0022607	cellular component assembly		
http://purl.obolibrary.org/obo/GO_0001677	formation of translation initiation ternary complex	http://purl.obolibrary.org/obo/GO_0022618	protein-RNA complex assembly		
http://purl.obolibrary.org/obo/GO_0023056	positive regulation of signaling	http://purl.obolibrary.org/obo/GO_0048518	positive regulation of biological process		
http://purl.obolibrary.org/obo/GO_0023057	negative regulation of signaling	http://purl.obolibrary.org/obo/GO_0048519	negative regulation of biological process		
http://purl.obolibrary.org/obo/GO_0050806	positive regulation of synaptic transmission	http://purl.obolibrary.org/obo/GO_0010647	positive regulation of cell communication		
http://purl.obolibrary.org/obo/GO_0050805	negative regulation of synaptic transmission	http://purl.obolibrary.org/obo/GO_0010648	negative regulation of cell communication		
http://purl.obolibrary.org/obo/GO_0000041	transition metal ion transport	http://purl.obolibrary.org/obo/GO_0030001	metal ion transport		
http://purl.obolibrary.org/obo/GO_0006816	calcium ion transport	http://purl.obolibrary.org/obo/GO_0030001	metal ion transport		
http://purl.obolibrary.org/obo/GO_0015693	magnesium ion transport	http://purl.obolibrary.org/obo/GO_0030001	metal ion transport		
http://purl.obolibrary.org/obo/GO_0030183	B cell differentiation	http://purl.obolibrary.org/obo/GO_0042113	B cell activation		
http://purl.obolibrary.org/obo/GO_0030217	T cell differentiation	http://purl.obolibrary.org/obo/GO_0042110	T cell activation		
http://purl.obolibrary.org/obo/GO_0002574	thrombocyte differentiation	http://purl.obolibrary.org/obo/GO_0030099	myeloid cell differentiation		
http://purl.obolibrary.org/obo/GO_0030218	erythrocyte differentiation	http://purl.obolibrary.org/obo/GO_0030099	myeloid cell differentiation		
http://purl.obolibrary.org/obo/GO_0030219	megakaryocyte differentiation	http://purl.obolibrary.org/obo/GO_0030099	myeloid cell differentiation		
http://purl.obolibrary.org/obo/GO_0031045	dense core granule	http://purl.obolibrary.org/obo/GO_0030141	secretory granule		
http://purl.obolibrary.org/obo/GO_0031091	platelet alpha granule	http://purl.obolibrary.org/obo/GO_0030141	secretory granule		
http://purl.obolibrary.org/obo/GO_0042827	platelet dense granule	http://purl.obolibrary.org/obo/GO_0030141	secretory granule		
http://purl.obolibrary.org/obo/GO_0042588	zymogen granule	http://purl.obolibrary.org/obo/GO_0030141	secretory granule		
http://purl.obolibrary.org/obo/GO_0042599	lamellar body	http://purl.obolibrary.org/obo/GO_0030141	secretory granule		
http://purl.obolibrary.org/obo/GO_0098594	mucin granule	http://purl.obolibrary.org/obo/GO_0030141	secretory granule		
http://purl.obolibrary.org/obo/GO_0001570	vasculogenesis	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0001649	osteoblast differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0002244	hematopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0002521	leukocyte differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0010001	glial cell differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0030099	myeloid cell differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0030182	neuron differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0030855	epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0035051	cardiocyte differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0048762	mesenchymal cell differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0022008	neurogenesis	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0042692	muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0045444	fat cell differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0048863	stem cell differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0060591	chondroblast differentiation	http://purl.obolibrary.org/obo/GO_0030154	cell differentiation		
http://purl.obolibrary.org/obo/GO_0022407	regulation of cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0030155	regulation of cell adhesion		
http://purl.obolibrary.org/obo/GO_0045785	positive regulation of cell adhesion	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0002335	mature B cell differentiation	http://purl.obolibrary.org/obo/GO_0030183	B cell differentiation		
http://purl.obolibrary.org/obo/GO_2000262	positive regulation of blood coagulation, common pathway	http://purl.obolibrary.org/obo/GO_2000260	regulation of blood coagulation, common pathway		
http://purl.obolibrary.org/obo/GO_2000265	positive regulation of blood coagulation, extrinsic pathway	http://purl.obolibrary.org/obo/GO_2000263	regulation of blood coagulation, extrinsic pathway		
http://purl.obolibrary.org/obo/GO_2000268	positive regulation of blood coagulation, intrinsic pathway	http://purl.obolibrary.org/obo/GO_2000266	regulation of blood coagulation, intrinsic pathway		
http://purl.obolibrary.org/obo/GO_0030212	hyaluronan metabolic process	http://purl.obolibrary.org/obo/GO_0030203	glycosaminoglycan metabolic process		
http://purl.obolibrary.org/obo/GO_0033077	T cell differentiation in thymus	http://purl.obolibrary.org/obo/GO_0030217	T cell differentiation		
http://purl.obolibrary.org/obo/GO_0034440	lipid oxidation	http://purl.obolibrary.org/obo/GO_0030258	lipid modification		
http://purl.obolibrary.org/obo/GO_0007076	mitotic chromosome condensation	http://purl.obolibrary.org/obo/GO_1903047	mitotic cell cycle process		
http://purl.obolibrary.org/obo/GO_0030263	apoptotic chromosome condensation	http://purl.obolibrary.org/obo/GO_0030261	chromosome condensation		
http://purl.obolibrary.org/obo/GO_2001222	regulation of neuron migration	http://purl.obolibrary.org/obo/GO_0030334	regulation of cell migration		
http://purl.obolibrary.org/obo/GO_0030335	positive regulation of cell migration	http://purl.obolibrary.org/obo/GO_2000147	positive regulation of cell motility		
http://purl.obolibrary.org/obo/GO_0030336	negative regulation of cell migration	http://purl.obolibrary.org/obo/GO_2000146	negative regulation of cell motility		
http://purl.obolibrary.org/obo/GO_0001868	regulation of complement activation, lectin pathway	http://purl.obolibrary.org/obo/GO_0045088	regulation of innate immune response		
http://purl.obolibrary.org/obo/GO_0141193	nuclear receptor-mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0030522	intracellular receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0071621	granulocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0097530	granulocyte migration		
http://purl.obolibrary.org/obo/GO_0042589	zymogen granule membrane	http://purl.obolibrary.org/obo/GO_0030667	secretory granule membrane		
http://purl.obolibrary.org/obo/GO_0002065	columnar/cuboidal epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0030855	epithelial cell differentiation		
http://purl.obolibrary.org/obo/GO_0009913	epidermal cell differentiation	http://purl.obolibrary.org/obo/GO_0030855	epithelial cell differentiation		
http://purl.obolibrary.org/obo/GO_0045605	negative regulation of epidermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045683	negative regulation of epidermis development		
http://purl.obolibrary.org/obo/GO_0060235	lens induction in camera-type eye	http://purl.obolibrary.org/obo/GO_0031128	developmental induction		
http://purl.obolibrary.org/obo/GO_0061564	axon development	http://purl.obolibrary.org/obo/GO_0031175	neuron projection development		
http://purl.obolibrary.org/obo/GO_0097485	neuron projection guidance	http://purl.obolibrary.org/obo/GO_0031175	neuron projection development		
http://purl.obolibrary.org/obo/GO_1901191	negative regulation of formation of translation initiation ternary complex	http://purl.obolibrary.org/obo/GO_1901190	regulation of formation of translation initiation ternary complex		
http://purl.obolibrary.org/obo/GO_1901192	positive regulation of formation of translation initiation ternary complex	http://purl.obolibrary.org/obo/GO_1901190	regulation of formation of translation initiation ternary complex		
http://purl.obolibrary.org/obo/GO_0031343	positive regulation of cell killing	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0051245	negative regulation of cellular defense response	http://purl.obolibrary.org/obo/GO_0010185	regulation of cellular defense response		
http://purl.obolibrary.org/obo/GO_0050728	negative regulation of inflammatory response	http://purl.obolibrary.org/obo/GO_0032102	negative regulation of response to external stimulus		
http://purl.obolibrary.org/obo/GO_0050729	positive regulation of inflammatory response	http://purl.obolibrary.org/obo/GO_0050727	regulation of inflammatory response		
http://purl.obolibrary.org/obo/GO_0010186	positive regulation of cellular defense response	http://purl.obolibrary.org/obo/GO_0010185	regulation of cellular defense response		
http://purl.obolibrary.org/obo/GO_0001932	regulation of protein phosphorylation	http://purl.obolibrary.org/obo/GO_0042325	regulation of phosphorylation		
http://purl.obolibrary.org/obo/GO_0031400	negative regulation of protein modification process	http://purl.obolibrary.org/obo/GO_0051248	negative regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0031401	positive regulation of protein modification process	http://purl.obolibrary.org/obo/GO_0051247	positive regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0099503	secretory vesicle	http://purl.obolibrary.org/obo/GO_0031410	cytoplasmic vesicle		
http://purl.obolibrary.org/obo/GO_0048770	pigment granule	http://purl.obolibrary.org/obo/GO_0031410	cytoplasmic vesicle		
http://purl.obolibrary.org/obo/GO_0007584	response to nutrient	http://purl.obolibrary.org/obo/GO_0042221	response to chemical		
http://purl.obolibrary.org/obo/GO_1900121	negative regulation of receptor binding	http://purl.obolibrary.org/obo/GO_1900120	regulation of receptor binding		
http://purl.obolibrary.org/obo/GO_0032103	positive regulation of response to external stimulus	http://purl.obolibrary.org/obo/GO_0048584	positive regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0050727	regulation of inflammatory response	http://purl.obolibrary.org/obo/GO_0031347	regulation of defense response		
http://purl.obolibrary.org/obo/GO_0050920	regulation of chemotaxis	http://purl.obolibrary.org/obo/GO_0040012	regulation of locomotion		
http://purl.obolibrary.org/obo/GO_0030193	regulation of blood coagulation	http://purl.obolibrary.org/obo/GO_1900046	regulation of hemostasis		
http://purl.obolibrary.org/obo/GO_0032102	negative regulation of response to external stimulus	http://purl.obolibrary.org/obo/GO_0048585	negative regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0050921	positive regulation of chemotaxis	http://purl.obolibrary.org/obo/GO_0040017	positive regulation of locomotion		
http://purl.obolibrary.org/obo/GO_1905789	positive regulation of detection of mechanical stimulus involved in sensory perception of touch	http://purl.obolibrary.org/obo/GO_0031646	positive regulation of nervous system process		
http://purl.obolibrary.org/obo/GO_0007586	digestion	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0022404	molting cycle process	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0035265	organ growth	http://purl.obolibrary.org/obo/GO_0048589	developmental growth		
http://purl.obolibrary.org/obo/GO_0042303	molting cycle	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0044706	multi-multicellular organism process	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0050817	coagulation	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0001503	ossification	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0002532	production of molecular mediator involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0003008	system process	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0007275	multicellular organism development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0007585	respiratory gaseous exchange by respiratory system	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0009791	post-embryonic development	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0048771	tissue remodeling	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0048871	multicellular organismal-level homeostasis	http://purl.obolibrary.org/obo/GO_0042592	homeostatic process		
http://purl.obolibrary.org/obo/GO_0030431	sleep	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0031424	keratinization	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0032941	secretion by tissue	http://purl.obolibrary.org/obo/GO_0046903	secretion		
http://purl.obolibrary.org/obo/GO_0071827	plasma lipoprotein particle organization	http://purl.obolibrary.org/obo/GO_0071825	protein-lipid complex organization		
http://purl.obolibrary.org/obo/GO_0034381	plasma lipoprotein particle clearance	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0050879	multicellular organismal movement	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0055127	vibrational conductance of sound to the inner ear	http://purl.obolibrary.org/obo/GO_0032501	multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0021700	developmental maturation	http://purl.obolibrary.org/obo/GO_0032502	developmental process		
http://purl.obolibrary.org/obo/GO_0009653	anatomical structure morphogenesis	http://purl.obolibrary.org/obo/GO_0032502	developmental process		
http://purl.obolibrary.org/obo/GO_0031128	developmental induction	http://purl.obolibrary.org/obo/GO_0032502	developmental process		
http://purl.obolibrary.org/obo/GO_0048646	anatomical structure formation involved in morphogenesis	http://purl.obolibrary.org/obo/GO_0032502	developmental process		
http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development	http://purl.obolibrary.org/obo/GO_0032502	developmental process		
http://purl.obolibrary.org/obo/GO_0006351	DNA-templated transcription	http://purl.obolibrary.org/obo/GO_0032774	RNA biosynthetic process		
http://purl.obolibrary.org/obo/GO_0006354	DNA-templated transcription elongation	http://purl.obolibrary.org/obo/GO_0032774	RNA biosynthetic process		
http://purl.obolibrary.org/obo/GO_0070278	extracellular matrix constituent secretion	http://purl.obolibrary.org/obo/GO_0032940	secretion by cell		
http://purl.obolibrary.org/obo/GO_0023061	signal release	http://purl.obolibrary.org/obo/GO_0032940	secretion by cell		
http://purl.obolibrary.org/obo/GO_0050432	catecholamine secretion	http://purl.obolibrary.org/obo/GO_0051937	catecholamine transport		
http://purl.obolibrary.org/obo/GO_0006415	translational termination	http://purl.obolibrary.org/obo/GO_0032984	protein-containing complex disassembly		
http://purl.obolibrary.org/obo/GO_0032987	protein-lipid complex disassembly	http://purl.obolibrary.org/obo/GO_0071825	protein-lipid complex organization		
http://purl.obolibrary.org/obo/GO_0005581	collagen trimer	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0005875	microtubule associated complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0030990	intraciliary transport particle	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0098798	mitochondrial protein-containing complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0001534	radial spoke	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0032993	protein-DNA complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0043235	signaling receptor complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0098796	membrane protein complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0099023	vesicle tethering complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_1902494	catalytic complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0019814	immunoglobulin complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_1990351	transporter complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_1990904	ribonucleoprotein complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0098803	respiratory chain complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0090665	glycoprotein complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0061702	canonical inflammasome complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0140513	nuclear protein-containing complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0140392	extracellular protein-containing complex	http://purl.obolibrary.org/obo/GO_0032991	protein-containing complex		
http://purl.obolibrary.org/obo/GO_0051783	regulation of nuclear division	http://purl.obolibrary.org/obo/GO_0033043	regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_1904409	regulation of secretory granule organization	http://purl.obolibrary.org/obo/GO_0033043	regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0051493	regulation of cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0033043	regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0031338	regulation of vesicle fusion	http://purl.obolibrary.org/obo/GO_0060627	regulation of vesicle-mediated transport		
http://purl.obolibrary.org/obo/GO_0033044	regulation of chromosome organization	http://purl.obolibrary.org/obo/GO_0033043	regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_1903353	regulation of nucleus organization	http://purl.obolibrary.org/obo/GO_0033043	regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0010638	positive regulation of organelle organization	http://purl.obolibrary.org/obo/GO_0051130	positive regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0010639	negative regulation of organelle organization	http://purl.obolibrary.org/obo/GO_0051129	negative regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0010821	regulation of mitochondrion organization	http://purl.obolibrary.org/obo/GO_0033043	regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0006974	DNA damage response	http://purl.obolibrary.org/obo/GO_0033554	cellular response to stress		
http://purl.obolibrary.org/obo/GO_0000252	3-beta-hydroxysteroid dehydrogenase [NAD(P)+]/C4-decarboxylase activity	http://purl.obolibrary.org/obo/GO_0033764	steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0072582	17-beta-hydroxysteroid dehydrogenase (NADP+) activity	http://purl.obolibrary.org/obo/GO_0033764	steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor		
http://purl.obolibrary.org/obo/GO_0055007	cardiac muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051146	striated muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_0061307	cardiac neural crest cell differentiation involved in heart development	http://purl.obolibrary.org/obo/GO_0014033	neural crest cell differentiation		
http://purl.obolibrary.org/obo/GO_0030522	intracellular receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0035556	intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0141124	intracellular signaling cassette	http://purl.obolibrary.org/obo/GO_0035556	intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0001957	intramembranous ossification	http://purl.obolibrary.org/obo/GO_0036072	direct ossification		
http://purl.obolibrary.org/obo/GO_0001958	endochondral ossification	http://purl.obolibrary.org/obo/GO_0036075	replacement ossification		
http://purl.obolibrary.org/obo/GO_0019842	vitamin binding	http://purl.obolibrary.org/obo/GO_0036094	small molecule binding		
http://purl.obolibrary.org/obo/GO_1901363	heterocyclic compound binding	http://purl.obolibrary.org/obo/GO_0036094	small molecule binding		
http://purl.obolibrary.org/obo/GO_0043177	organic acid binding	http://purl.obolibrary.org/obo/GO_0036094	small molecule binding		
http://purl.obolibrary.org/obo/GO_0043167	ion binding	http://purl.obolibrary.org/obo/GO_0036094	small molecule binding		
http://purl.obolibrary.org/obo/GO_0030594	neurotransmitter receptor activity	http://purl.obolibrary.org/obo/GO_0038023	signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0004888	transmembrane signaling receptor activity	http://purl.obolibrary.org/obo/GO_0038023	signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0140375	immune receptor activity	http://purl.obolibrary.org/obo/GO_0038023	signaling receptor activity		
http://purl.obolibrary.org/obo/GO_0048589	developmental growth	http://purl.obolibrary.org/obo/GO_0040007	growth		
http://purl.obolibrary.org/obo/GO_0045926	negative regulation of growth	http://purl.obolibrary.org/obo/GO_0048519	negative regulation of biological process		
http://purl.obolibrary.org/obo/GO_0045927	positive regulation of growth	http://purl.obolibrary.org/obo/GO_0048518	positive regulation of biological process		
http://purl.obolibrary.org/obo/GO_0048638	regulation of developmental growth	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0002246	wound healing involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0042060	wound healing		
http://purl.obolibrary.org/obo/GO_0008284	positive regulation of cell population proliferation	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0010464	regulation of mesenchymal cell proliferation	http://purl.obolibrary.org/obo/GO_0042127	regulation of cell population proliferation		
http://purl.obolibrary.org/obo/GO_0050678	regulation of epithelial cell proliferation	http://purl.obolibrary.org/obo/GO_0042127	regulation of cell population proliferation		
http://purl.obolibrary.org/obo/GO_0060784	regulation of cell proliferation involved in tissue homeostasis	http://purl.obolibrary.org/obo/GO_0042127	regulation of cell population proliferation		
http://purl.obolibrary.org/obo/GO_1901700	response to oxygen-containing compound	http://purl.obolibrary.org/obo/GO_0042221	response to chemical		
http://purl.obolibrary.org/obo/GO_1901652	response to peptide	http://purl.obolibrary.org/obo/GO_0042221	response to chemical		
http://purl.obolibrary.org/obo/GO_0009410	response to xenobiotic stimulus	http://purl.obolibrary.org/obo/GO_0042221	response to chemical		
http://purl.obolibrary.org/obo/GO_0009636	response to toxic substance	http://purl.obolibrary.org/obo/GO_0042221	response to chemical		
http://purl.obolibrary.org/obo/GO_0009725	response to hormone	http://purl.obolibrary.org/obo/GO_0009719	response to endogenous stimulus		
http://purl.obolibrary.org/obo/GO_0033993	response to lipid	http://purl.obolibrary.org/obo/GO_0042221	response to chemical		
http://purl.obolibrary.org/obo/GO_1901698	response to nitrogen compound	http://purl.obolibrary.org/obo/GO_0042221	response to chemical		
http://purl.obolibrary.org/obo/GO_0042326	negative regulation of phosphorylation	http://purl.obolibrary.org/obo/GO_0045936	negative regulation of phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0042327	positive regulation of phosphorylation	http://purl.obolibrary.org/obo/GO_0045937	positive regulation of phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0043549	regulation of kinase activity	http://purl.obolibrary.org/obo/GO_0051338	regulation of transferase activity		
http://purl.obolibrary.org/obo/GO_0006935	chemotaxis	http://purl.obolibrary.org/obo/GO_0042330	taxis		
http://purl.obolibrary.org/obo/GO_0001508	action potential	http://purl.obolibrary.org/obo/GO_0042391	regulation of membrane potential		
http://purl.obolibrary.org/obo/GO_0098900	regulation of action potential	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0060078	regulation of postsynaptic membrane potential	http://purl.obolibrary.org/obo/GO_0042391	regulation of membrane potential		
http://purl.obolibrary.org/obo/GO_0019725	cellular homeostasis	http://purl.obolibrary.org/obo/GO_0042592	homeostatic process		
http://purl.obolibrary.org/obo/GO_0048878	chemical homeostasis	http://purl.obolibrary.org/obo/GO_0042592	homeostatic process		
http://purl.obolibrary.org/obo/GO_0001678	intracellular glucose homeostasis	http://purl.obolibrary.org/obo/GO_0055082	intracellular chemical homeostasis		
http://purl.obolibrary.org/obo/GO_0043066	negative regulation of apoptotic process	http://purl.obolibrary.org/obo/GO_0043069	negative regulation of programmed cell death		
http://purl.obolibrary.org/obo/GO_1904748	regulation of apoptotic process involved in development	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0043065	positive regulation of apoptotic process	http://purl.obolibrary.org/obo/GO_0043068	positive regulation of programmed cell death		
http://purl.obolibrary.org/obo/GO_0060785	regulation of apoptosis involved in tissue homeostasis	http://purl.obolibrary.org/obo/GO_0042981	regulation of apoptotic process		
http://purl.obolibrary.org/obo/GO_0120025	plasma membrane bounded cell projection	http://purl.obolibrary.org/obo/GO_0042995	cell projection		
http://purl.obolibrary.org/obo/GO_0001701	in utero embryonic development	http://purl.obolibrary.org/obo/GO_0043009	chordate embryonic development		
http://purl.obolibrary.org/obo/GO_0019184	nonribosomal peptide biosynthetic process	http://purl.obolibrary.org/obo/GO_0043043	peptide biosynthetic process		
http://purl.obolibrary.org/obo/GO_0031406	carboxylic acid binding	http://purl.obolibrary.org/obo/GO_0043177	organic acid binding		
http://purl.obolibrary.org/obo/GO_0051707	response to other organism	http://purl.obolibrary.org/obo/GO_0044419	biological process involved in interspecies interaction between organisms		
http://purl.obolibrary.org/obo/GO_0043227	membrane-bounded organelle	http://purl.obolibrary.org/obo/GO_0043226	organelle		
http://purl.obolibrary.org/obo/GO_0043229	intracellular organelle	http://purl.obolibrary.org/obo/GO_0043226	organelle		
http://purl.obolibrary.org/obo/GO_0043230	extracellular organelle	http://purl.obolibrary.org/obo/GO_0043226	organelle		
http://purl.obolibrary.org/obo/GO_0043228	membraneless organelle	http://purl.obolibrary.org/obo/GO_0043226	organelle		
http://purl.obolibrary.org/obo/GO_0005730	nucleolus	http://purl.obolibrary.org/obo/GO_0043232	intracellular membraneless organelle		
http://purl.obolibrary.org/obo/GO_0005856	cytoskeleton	http://purl.obolibrary.org/obo/GO_0043232	intracellular membraneless organelle		
http://purl.obolibrary.org/obo/GO_0043292	contractile muscle fiber	http://purl.obolibrary.org/obo/GO_0099512	supramolecular fiber		
http://purl.obolibrary.org/obo/GO_0005694	chromosome	http://purl.obolibrary.org/obo/GO_0043232	intracellular membraneless organelle		
http://purl.obolibrary.org/obo/GO_0005840	ribosome	http://purl.obolibrary.org/obo/GO_0043232	intracellular membraneless organelle		
http://purl.obolibrary.org/obo/GO_0042645	mitochondrial nucleoid	http://purl.obolibrary.org/obo/GO_0009295	nucleoid		
http://purl.obolibrary.org/obo/GO_0098802	plasma membrane signaling receptor complex	http://purl.obolibrary.org/obo/GO_0098797	plasma membrane protein complex		
http://purl.obolibrary.org/obo/GO_0031333	negative regulation of protein-containing complex assembly	http://purl.obolibrary.org/obo/GO_0051129	negative regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0031334	positive regulation of protein-containing complex assembly	http://purl.obolibrary.org/obo/GO_0051130	positive regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_1901190	regulation of formation of translation initiation ternary complex	http://purl.obolibrary.org/obo/GO_0043254	regulation of protein-containing complex assembly		
http://purl.obolibrary.org/obo/GO_0030518	nuclear receptor-mediated steroid hormone signaling pathway	http://purl.obolibrary.org/obo/GO_0141193	nuclear receptor-mediated signaling pathway		
http://purl.obolibrary.org/obo/GO_0019752	carboxylic acid metabolic process	http://purl.obolibrary.org/obo/GO_0043436	oxoacid metabolic process		
http://purl.obolibrary.org/obo/GO_0070873	regulation of glycogen metabolic process	http://purl.obolibrary.org/obo/GO_0032881	regulation of polysaccharide metabolic process		
http://purl.obolibrary.org/obo/GO_0043457	regulation of cellular respiration	http://purl.obolibrary.org/obo/GO_0043467	regulation of generation of precursor metabolites and energy		
http://purl.obolibrary.org/obo/GO_0071825	protein-lipid complex organization	http://purl.obolibrary.org/obo/GO_0043933	protein-containing complex organization		
http://purl.obolibrary.org/obo/GO_0071826	protein-RNA complex organization	http://purl.obolibrary.org/obo/GO_0043933	protein-containing complex organization		
http://purl.obolibrary.org/obo/GO_0002087	regulation of respiratory gaseous exchange by nervous system process	http://purl.obolibrary.org/obo/GO_0050877	nervous system process		
http://purl.obolibrary.org/obo/GO_0046952	ketone body catabolic process	http://purl.obolibrary.org/obo/GO_1901569	fatty acid derivative catabolic process		
http://purl.obolibrary.org/obo/GO_0007618	mating	http://purl.obolibrary.org/obo/GO_0044703	multi-organism reproductive process		
http://purl.obolibrary.org/obo/GO_0022601	menstrual cycle phase	http://purl.obolibrary.org/obo/GO_0044848	biological phase		
http://purl.obolibrary.org/obo/GO_0044851	hair cycle phase	http://purl.obolibrary.org/obo/GO_0044848	biological phase		
http://purl.obolibrary.org/obo/GO_1990636	reproductive senescence	http://purl.obolibrary.org/obo/GO_0044848	biological phase		
http://purl.obolibrary.org/obo/GO_0017156	calcium-ion regulated exocytosis	http://purl.obolibrary.org/obo/GO_0045055	regulated exocytosis		
http://purl.obolibrary.org/obo/GO_0060795	cell fate commitment involved in formation of primary germ layer	http://purl.obolibrary.org/obo/GO_0045165	cell fate commitment		
http://purl.obolibrary.org/obo/GO_0002269	leukocyte activation involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0045321	leukocyte activation		
http://purl.obolibrary.org/obo/GO_0002274	myeloid leukocyte activation	http://purl.obolibrary.org/obo/GO_0045321	leukocyte activation		
http://purl.obolibrary.org/obo/GO_0046649	lymphocyte activation	http://purl.obolibrary.org/obo/GO_0045321	leukocyte activation		
http://purl.obolibrary.org/obo/GO_0045578	negative regulation of B cell differentiation	http://purl.obolibrary.org/obo/GO_0050869	negative regulation of B cell activation		
http://purl.obolibrary.org/obo/GO_0045579	positive regulation of B cell differentiation	http://purl.obolibrary.org/obo/GO_0050871	positive regulation of B cell activation		
http://purl.obolibrary.org/obo/GO_0002761	regulation of myeloid leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1902105	regulation of leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045639	positive regulation of myeloid cell differentiation	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0045652	regulation of megakaryocyte differentiation	http://purl.obolibrary.org/obo/GO_0045637	regulation of myeloid cell differentiation		
http://purl.obolibrary.org/obo/GO_0045646	regulation of erythrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045637	regulation of myeloid cell differentiation		
http://purl.obolibrary.org/obo/GO_0045647	negative regulation of erythrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045646	regulation of erythrocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045653	negative regulation of megakaryocyte differentiation	http://purl.obolibrary.org/obo/GO_0045652	regulation of megakaryocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045648	positive regulation of erythrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045646	regulation of erythrocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045654	positive regulation of megakaryocyte differentiation	http://purl.obolibrary.org/obo/GO_0045652	regulation of megakaryocyte differentiation		
http://purl.obolibrary.org/obo/GO_0051447	negative regulation of meiotic cell cycle	http://purl.obolibrary.org/obo/GO_2000242	negative regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0055118	negative regulation of cardiac muscle contraction	http://purl.obolibrary.org/obo/GO_0055117	regulation of cardiac muscle contraction		
http://purl.obolibrary.org/obo/GO_0060452	positive regulation of cardiac muscle contraction	http://purl.obolibrary.org/obo/GO_0055117	regulation of cardiac muscle contraction		
http://purl.obolibrary.org/obo/GO_0032785	negative regulation of DNA-templated transcription, elongation	http://purl.obolibrary.org/obo/GO_0032784	regulation of DNA-templated transcription elongation		
http://purl.obolibrary.org/obo/GO_0032786	positive regulation of DNA-templated transcription, elongation	http://purl.obolibrary.org/obo/GO_0032784	regulation of DNA-templated transcription elongation		
http://purl.obolibrary.org/obo/GO_1903109	positive regulation of mitochondrial transcription	http://purl.obolibrary.org/obo/GO_1903108	regulation of mitochondrial transcription		
http://purl.obolibrary.org/obo/GO_0045992	negative regulation of embryonic development	http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0040019	positive regulation of embryonic development	http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_1902653	secondary alcohol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902652	secondary alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_1902645	tertiary alcohol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902644	tertiary alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_0019853	L-ascorbic acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0042364	water-soluble vitamin biosynthetic process		
http://purl.obolibrary.org/obo/GO_0170038	proteinogenic amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0170039	proteinogenic amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0046621	negative regulation of organ growth	http://purl.obolibrary.org/obo/GO_0048640	negative regulation of developmental growth		
http://purl.obolibrary.org/obo/GO_0046622	positive regulation of organ growth	http://purl.obolibrary.org/obo/GO_0048639	positive regulation of developmental growth		
http://purl.obolibrary.org/obo/GO_0030098	lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_1903131	mononuclear cell differentiation		
http://purl.obolibrary.org/obo/GO_0042110	T cell activation	http://purl.obolibrary.org/obo/GO_0046649	lymphocyte activation		
http://purl.obolibrary.org/obo/GO_0042113	B cell activation	http://purl.obolibrary.org/obo/GO_0046649	lymphocyte activation		
http://purl.obolibrary.org/obo/GO_0014051	gamma-aminobutyric acid secretion	http://purl.obolibrary.org/obo/GO_0015812	gamma-aminobutyric acid transport		
http://purl.obolibrary.org/obo/GO_0060986	endocrine hormone secretion	http://purl.obolibrary.org/obo/GO_0046879	hormone secretion		
http://purl.obolibrary.org/obo/GO_0007589	body fluid secretion	http://purl.obolibrary.org/obo/GO_0050878	regulation of body fluid levels		
http://purl.obolibrary.org/obo/GO_0001821	histamine secretion	http://purl.obolibrary.org/obo/GO_0051608	histamine transport		
http://purl.obolibrary.org/obo/GO_0046717	acid secretion	http://purl.obolibrary.org/obo/GO_0046903	secretion		
http://purl.obolibrary.org/obo/GO_0001956	positive regulation of neurotransmitter secretion	http://purl.obolibrary.org/obo/GO_1903532	positive regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_1903294	regulation of glutamate secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0051966	regulation of synaptic transmission, glutamatergic		
http://purl.obolibrary.org/obo/GO_0014056	regulation of acetylcholine secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0051952	regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0090174	organelle membrane fusion	http://purl.obolibrary.org/obo/GO_0061025	membrane fusion		
http://purl.obolibrary.org/obo/GO_0000280	nuclear division	http://purl.obolibrary.org/obo/GO_0048285	organelle fission		
http://purl.obolibrary.org/obo/GO_0030097	hemopoiesis	http://purl.obolibrary.org/obo/GO_0048468	cell development		
http://purl.obolibrary.org/obo/GO_0048666	neuron development	http://purl.obolibrary.org/obo/GO_0048468	cell development		
http://purl.obolibrary.org/obo/GO_0014031	mesenchymal cell development	http://purl.obolibrary.org/obo/GO_0048468	cell development		
http://purl.obolibrary.org/obo/GO_0021782	glial cell development	http://purl.obolibrary.org/obo/GO_0048468	cell development		
http://purl.obolibrary.org/obo/GO_0048864	stem cell development	http://purl.obolibrary.org/obo/GO_0048468	cell development		
http://purl.obolibrary.org/obo/GO_0007420	brain development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0008406	gonad development	http://purl.obolibrary.org/obo/GO_0048608	reproductive structure development		
http://purl.obolibrary.org/obo/GO_0001890	placenta development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0007423	sensory organ development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0007507	heart development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0048732	gland development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0051216	cartilage development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0043588	skin development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0048534	hematopoietic or lymphoid organ development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0060348	bone development	http://purl.obolibrary.org/obo/GO_0048513	animal organ development		
http://purl.obolibrary.org/obo/GO_0048845	venous blood vessel morphogenesis	http://purl.obolibrary.org/obo/GO_0048514	blood vessel morphogenesis		
http://purl.obolibrary.org/obo/GO_0048844	artery morphogenesis	http://purl.obolibrary.org/obo/GO_0048514	blood vessel morphogenesis		
http://purl.obolibrary.org/obo/GO_0048584	positive regulation of response to stimulus	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0051094	positive regulation of developmental process	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0051240	positive regulation of multicellular organismal process	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_1900048	positive regulation of hemostasis	http://purl.obolibrary.org/obo/GO_1900046	regulation of hemostasis		
http://purl.obolibrary.org/obo/GO_0040017	positive regulation of locomotion	http://purl.obolibrary.org/obo/GO_0040012	regulation of locomotion		
http://purl.obolibrary.org/obo/GO_0045760	positive regulation of action potential	http://purl.obolibrary.org/obo/GO_0098900	regulation of action potential		
http://purl.obolibrary.org/obo/GO_1903829	positive regulation of protein localization	http://purl.obolibrary.org/obo/GO_0032880	regulation of protein localization		
http://purl.obolibrary.org/obo/GO_1903781	positive regulation of cardiac conduction	http://purl.obolibrary.org/obo/GO_1903779	regulation of cardiac conduction		
http://purl.obolibrary.org/obo/GO_0042753	positive regulation of circadian rhythm	http://purl.obolibrary.org/obo/GO_0042752	regulation of circadian rhythm		
http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_2000243	positive regulation of reproductive process	http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_1905954	positive regulation of lipid localization	http://purl.obolibrary.org/obo/GO_1905952	regulation of lipid localization		
http://purl.obolibrary.org/obo/GO_0048523	negative regulation of cellular process	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0048585	negative regulation of response to stimulus	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0051093	negative regulation of developmental process	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0051241	negative regulation of multicellular organismal process	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_1900047	negative regulation of hemostasis	http://purl.obolibrary.org/obo/GO_1900046	regulation of hemostasis		
http://purl.obolibrary.org/obo/GO_0040013	negative regulation of locomotion	http://purl.obolibrary.org/obo/GO_0040012	regulation of locomotion		
http://purl.obolibrary.org/obo/GO_0042754	negative regulation of circadian rhythm	http://purl.obolibrary.org/obo/GO_0042752	regulation of circadian rhythm		
http://purl.obolibrary.org/obo/GO_0045759	negative regulation of action potential	http://purl.obolibrary.org/obo/GO_0098900	regulation of action potential		
http://purl.obolibrary.org/obo/GO_0090394	negative regulation of excitatory postsynaptic potential	http://purl.obolibrary.org/obo/GO_0098815	modulation of excitatory postsynaptic potential		
http://purl.obolibrary.org/obo/GO_1903780	negative regulation of cardiac conduction	http://purl.obolibrary.org/obo/GO_1903779	regulation of cardiac conduction		
http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_1903828	negative regulation of protein localization	http://purl.obolibrary.org/obo/GO_0032880	regulation of protein localization		
http://purl.obolibrary.org/obo/GO_2000242	negative regulation of reproductive process	http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_1905953	negative regulation of lipid localization	http://purl.obolibrary.org/obo/GO_1905952	regulation of lipid localization		
http://purl.obolibrary.org/obo/GO_1900076	regulation of cellular response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0002831	regulation of response to biotic stimulus	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0032101	regulation of response to external stimulus	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0060759	regulation of response to cytokine stimulus	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0032107	regulation of response to nutrient levels	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_2001023	regulation of response to drug	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0080134	regulation of response to stress	http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus		
http://purl.obolibrary.org/obo/GO_0031349	positive regulation of defense response	http://purl.obolibrary.org/obo/GO_0031347	regulation of defense response		
http://purl.obolibrary.org/obo/GO_0060760	positive regulation of response to cytokine stimulus	http://purl.obolibrary.org/obo/GO_0060759	regulation of response to cytokine stimulus		
http://purl.obolibrary.org/obo/GO_0032109	positive regulation of response to nutrient levels	http://purl.obolibrary.org/obo/GO_0032107	regulation of response to nutrient levels		
http://purl.obolibrary.org/obo/GO_2001025	positive regulation of response to drug	http://purl.obolibrary.org/obo/GO_2001023	regulation of response to drug		
http://purl.obolibrary.org/obo/GO_0031348	negative regulation of defense response	http://purl.obolibrary.org/obo/GO_0031347	regulation of defense response		
http://purl.obolibrary.org/obo/GO_0060761	negative regulation of response to cytokine stimulus	http://purl.obolibrary.org/obo/GO_0060759	regulation of response to cytokine stimulus		
http://purl.obolibrary.org/obo/GO_2001024	negative regulation of response to drug	http://purl.obolibrary.org/obo/GO_2001023	regulation of response to drug		
http://purl.obolibrary.org/obo/GO_0032108	negative regulation of response to nutrient levels	http://purl.obolibrary.org/obo/GO_0032107	regulation of response to nutrient levels		
http://purl.obolibrary.org/obo/GO_0060560	developmental growth involved in morphogenesis	http://purl.obolibrary.org/obo/GO_0048589	developmental growth		
http://purl.obolibrary.org/obo/GO_0042246	tissue regeneration	http://purl.obolibrary.org/obo/GO_0031099	regeneration		
http://purl.obolibrary.org/obo/GO_0048593	camera-type eye morphogenesis	http://purl.obolibrary.org/obo/GO_0048592	eye morphogenesis		
http://purl.obolibrary.org/obo/GO_0007369	gastrulation	http://purl.obolibrary.org/obo/GO_0048598	embryonic morphogenesis		
http://purl.obolibrary.org/obo/GO_0001525	angiogenesis	http://purl.obolibrary.org/obo/GO_0048646	anatomical structure formation involved in morphogenesis		
http://purl.obolibrary.org/obo/GO_0001704	formation of primary germ layer	http://purl.obolibrary.org/obo/GO_0048646	anatomical structure formation involved in morphogenesis		
http://purl.obolibrary.org/obo/GO_0035148	tube formation	http://purl.obolibrary.org/obo/GO_0048646	anatomical structure formation involved in morphogenesis		
http://purl.obolibrary.org/obo/GO_0097186	amelogenesis	http://purl.obolibrary.org/obo/GO_0042475	odontogenesis of dentin-containing tooth		
http://purl.obolibrary.org/obo/GO_0002009	morphogenesis of an epithelium	http://purl.obolibrary.org/obo/GO_0048729	tissue morphogenesis		
http://purl.obolibrary.org/obo/GO_0048332	mesoderm morphogenesis	http://purl.obolibrary.org/obo/GO_0048729	tissue morphogenesis		
http://purl.obolibrary.org/obo/GO_0007399	nervous system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0007417	central nervous system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0007422	peripheral nervous system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0072359	circulatory system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0048880	sensory system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0001501	skeletal system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0001944	vasculature development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0055123	digestive system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0061458	reproductive system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0060037	pharyngeal system development	http://purl.obolibrary.org/obo/GO_0048731	system development		
http://purl.obolibrary.org/obo/GO_0030879	mammary gland development	http://purl.obolibrary.org/obo/GO_0048732	gland development		
http://purl.obolibrary.org/obo/GO_0001569	branching involved in blood vessel morphogenesis	http://purl.obolibrary.org/obo/GO_0048754	branching morphogenesis of an epithelial tube		
http://purl.obolibrary.org/obo/GO_1901706	mesenchymal cell differentiation involved in bone development	http://purl.obolibrary.org/obo/GO_0048762	mesenchymal cell differentiation		
http://purl.obolibrary.org/obo/GO_0014033	neural crest cell differentiation	http://purl.obolibrary.org/obo/GO_0048863	stem cell differentiation		
http://purl.obolibrary.org/obo/GO_0046849	bone remodeling	http://purl.obolibrary.org/obo/GO_0048771	tissue remodeling		
http://purl.obolibrary.org/obo/GO_0035295	tube development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0060322	head development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0061061	muscle structure development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0001568	blood vessel development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0002088	lens development in camera-type eye	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0009888	tissue development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0048468	cell development	http://purl.obolibrary.org/obo/GO_0048869	cellular developmental process		
http://purl.obolibrary.org/obo/GO_0048513	animal organ development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0048731	system development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0030901	midbrain development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0031099	regeneration	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0071696	ectodermal placode development	http://purl.obolibrary.org/obo/GO_0048856	anatomical structure development		
http://purl.obolibrary.org/obo/GO_0120039	plasma membrane bounded cell projection morphogenesis	http://purl.obolibrary.org/obo/GO_0048858	cell projection morphogenesis		
http://purl.obolibrary.org/obo/GO_0030154	cell differentiation	http://purl.obolibrary.org/obo/GO_0048869	cellular developmental process		
http://purl.obolibrary.org/obo/GO_0045165	cell fate commitment	http://purl.obolibrary.org/obo/GO_0048869	cellular developmental process		
http://purl.obolibrary.org/obo/GO_0048469	cell maturation	http://purl.obolibrary.org/obo/GO_0071695	anatomical structure maturation		
http://purl.obolibrary.org/obo/GO_0001539	cilium or flagellum-dependent cell motility	http://purl.obolibrary.org/obo/GO_0048870	cell motility		
http://purl.obolibrary.org/obo/GO_0016477	cell migration	http://purl.obolibrary.org/obo/GO_0048870	cell motility		
http://purl.obolibrary.org/obo/GO_0001659	temperature homeostasis	http://purl.obolibrary.org/obo/GO_0048871	multicellular organismal-level homeostasis		
http://purl.obolibrary.org/obo/GO_0048872	homeostasis of number of cells	http://purl.obolibrary.org/obo/GO_0048871	multicellular organismal-level homeostasis		
http://purl.obolibrary.org/obo/GO_0060249	anatomical structure homeostasis	http://purl.obolibrary.org/obo/GO_0048871	multicellular organismal-level homeostasis		
http://purl.obolibrary.org/obo/GO_0140962	multicellular organismal-level chemical homeostasis	http://purl.obolibrary.org/obo/GO_0048878	chemical homeostasis		
http://purl.obolibrary.org/obo/GO_0050309	sugar-terminal-phosphatase activity	http://purl.obolibrary.org/obo/GO_0050308	sugar-phosphatase activity		
http://purl.obolibrary.org/obo/GO_0004346	glucose-6-phosphatase activity	http://purl.obolibrary.org/obo/GO_0050309	sugar-terminal-phosphatase activity		
http://purl.obolibrary.org/obo/GO_0097325	melanocyte proliferation	http://purl.obolibrary.org/obo/GO_0050673	epithelial cell proliferation		
http://purl.obolibrary.org/obo/GO_0050680	negative regulation of epithelial cell proliferation	http://purl.obolibrary.org/obo/GO_0008285	negative regulation of cell population proliferation		
http://purl.obolibrary.org/obo/GO_0060054	positive regulation of epithelial cell proliferation involved in wound healing	http://purl.obolibrary.org/obo/GO_0050679	positive regulation of epithelial cell proliferation		
http://purl.obolibrary.org/obo/GO_0002673	regulation of acute inflammatory response	http://purl.obolibrary.org/obo/GO_0050727	regulation of inflammatory response		
http://purl.obolibrary.org/obo/GO_0002861	regulation of inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0050776	regulation of immune response		
http://purl.obolibrary.org/obo/GO_0050772	positive regulation of axonogenesis	http://purl.obolibrary.org/obo/GO_0031346	positive regulation of cell projection organization		
http://purl.obolibrary.org/obo/GO_0014015	positive regulation of gliogenesis	http://purl.obolibrary.org/obo/GO_0014013	regulation of gliogenesis		
http://purl.obolibrary.org/obo/GO_0002819	regulation of adaptive immune response	http://purl.obolibrary.org/obo/GO_0050776	regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002828	regulation of type 2 immune response	http://purl.obolibrary.org/obo/GO_0050776	regulation of immune response		
http://purl.obolibrary.org/obo/GO_0002920	regulation of humoral immune response	http://purl.obolibrary.org/obo/GO_0050776	regulation of immune response		
http://purl.obolibrary.org/obo/GO_0120305	regulation of pigmentation	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0002682	regulation of immune system process	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0023051	regulation of signaling	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0040008	regulation of growth	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0048518	positive regulation of biological process	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0048519	negative regulation of biological process	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0048583	regulation of response to stimulus	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0023052	signaling	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_1900046	regulation of hemostasis	http://purl.obolibrary.org/obo/GO_0050878	regulation of body fluid levels		
http://purl.obolibrary.org/obo/GO_0040012	regulation of locomotion	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0043903	regulation of biological process involved in symbiotic interaction	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0044145	modulation of formation of structure involved in a symbiotic process	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0097006	regulation of plasma lipoprotein particle levels	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0032879	regulation of localization	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0042752	regulation of circadian rhythm	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process	http://purl.obolibrary.org/obo/GO_0050789	regulation of biological process		
http://purl.obolibrary.org/obo/GO_0044087	regulation of cellular component biogenesis	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0010646	regulation of cell communication	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0030155	regulation of cell adhesion	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0031341	regulation of cell killing	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0042127	regulation of cell population proliferation	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0050865	regulation of cell activation	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0051302	regulation of cell division	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0051726	regulation of cell cycle	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0080135	regulation of cellular response to stress	http://purl.obolibrary.org/obo/GO_0080134	regulation of response to stress		
http://purl.obolibrary.org/obo/GO_1903530	regulation of secretion by cell	http://purl.obolibrary.org/obo/GO_0051046	regulation of secretion		
http://purl.obolibrary.org/obo/GO_0031641	regulation of myelination	http://purl.obolibrary.org/obo/GO_0051960	regulation of nervous system development		
http://purl.obolibrary.org/obo/GO_0032886	regulation of microtubule-based process	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0034762	regulation of transmembrane transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_2000145	regulation of cell motility	http://purl.obolibrary.org/obo/GO_0040012	regulation of locomotion		
http://purl.obolibrary.org/obo/GO_1900117	regulation of execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0010453	regulation of cell fate commitment	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0010883	regulation of lipid storage	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0043067	regulation of programmed cell death	http://purl.obolibrary.org/obo/GO_0050794	regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0060341	regulation of cellular localization	http://purl.obolibrary.org/obo/GO_0032879	regulation of localization		
http://purl.obolibrary.org/obo/GO_0060627	regulation of vesicle-mediated transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_0032230	positive regulation of synaptic transmission, GABAergic	http://purl.obolibrary.org/obo/GO_0032228	regulation of synaptic transmission, GABAergic		
http://purl.obolibrary.org/obo/GO_1900075	positive regulation of neuromuscular synaptic transmission	http://purl.obolibrary.org/obo/GO_1900073	regulation of neuromuscular synaptic transmission		
http://purl.obolibrary.org/obo/GO_0032224	positive regulation of synaptic transmission, cholinergic	http://purl.obolibrary.org/obo/GO_0032222	regulation of synaptic transmission, cholinergic		
http://purl.obolibrary.org/obo/GO_0051968	positive regulation of synaptic transmission, glutamatergic	http://purl.obolibrary.org/obo/GO_0051966	regulation of synaptic transmission, glutamatergic		
http://purl.obolibrary.org/obo/GO_0050867	positive regulation of cell activation	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0007600	sensory perception	http://purl.obolibrary.org/obo/MF_0000019	perception		
http://purl.obolibrary.org/obo/GO_0050890	cognition	http://purl.obolibrary.org/obo/GO_0050877	nervous system process		
http://purl.obolibrary.org/obo/GO_0001976	nervous system process involved in regulation of systemic arterial blood pressure	http://purl.obolibrary.org/obo/GO_0050877	nervous system process		
http://purl.obolibrary.org/obo/GO_0050905	neuromuscular process	http://purl.obolibrary.org/obo/GO_0050877	nervous system process		
http://purl.obolibrary.org/obo/GO_0019226	transmission of nerve impulse	http://purl.obolibrary.org/obo/GO_0050877	nervous system process		
http://purl.obolibrary.org/obo/GO_0007599	hemostasis	http://purl.obolibrary.org/obo/GO_0050878	regulation of body fluid levels		
http://purl.obolibrary.org/obo/GO_0046877	regulation of saliva secretion	http://purl.obolibrary.org/obo/GO_0044058	regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_0050891	multicellular organismal-level water homeostasis	http://purl.obolibrary.org/obo/GO_0140962	multicellular organismal-level chemical homeostasis		
http://purl.obolibrary.org/obo/GO_1903487	regulation of lactation	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_2001151	regulation of renal water transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_0070255	regulation of mucus secretion	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0050882	voluntary musculoskeletal movement	http://purl.obolibrary.org/obo/GO_0050881	musculoskeletal movement		
http://purl.obolibrary.org/obo/GO_0098856	intestinal lipid absorption	http://purl.obolibrary.org/obo/GO_0050892	intestinal absorption		
http://purl.obolibrary.org/obo/GO_0002523	leukocyte migration involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0050900	leukocyte migration		
http://purl.obolibrary.org/obo/GO_0097529	myeloid leukocyte migration	http://purl.obolibrary.org/obo/GO_0050900	leukocyte migration		
http://purl.obolibrary.org/obo/GO_0050885	neuromuscular process controlling balance	http://purl.obolibrary.org/obo/GO_0050905	neuromuscular process		
http://purl.obolibrary.org/obo/GO_0050881	musculoskeletal movement	http://purl.obolibrary.org/obo/GO_0050879	multicellular organismal movement		
http://purl.obolibrary.org/obo/GO_0050884	neuromuscular process controlling posture	http://purl.obolibrary.org/obo/GO_0050905	neuromuscular process		
http://purl.obolibrary.org/obo/GO_1902667	regulation of axon guidance	http://purl.obolibrary.org/obo/GO_0010975	regulation of neuron projection development		
http://purl.obolibrary.org/obo/GO_0050922	negative regulation of chemotaxis	http://purl.obolibrary.org/obo/GO_0032102	negative regulation of response to external stimulus		
http://purl.obolibrary.org/obo/GO_0120188	regulation of bile acid secretion	http://purl.obolibrary.org/obo/GO_0032890	regulation of organic acid transport		
http://purl.obolibrary.org/obo/GO_0002791	regulation of peptide secretion	http://purl.obolibrary.org/obo/GO_0090087	regulation of peptide transport		
http://purl.obolibrary.org/obo/GO_0051047	positive regulation of secretion	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0051048	negative regulation of secretion	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0044062	regulation of excretion	http://purl.obolibrary.org/obo/GO_0044057	regulation of system process		
http://purl.obolibrary.org/obo/GO_0014052	regulation of gamma-aminobutyric acid secretion	http://purl.obolibrary.org/obo/GO_0032890	regulation of organic acid transport		
http://purl.obolibrary.org/obo/GO_0060453	regulation of gastric acid secretion	http://purl.obolibrary.org/obo/GO_0044058	regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_1903532	positive regulation of secretion by cell	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0014054	positive regulation of gamma-aminobutyric acid secretion	http://purl.obolibrary.org/obo/GO_0014052	regulation of gamma-aminobutyric acid secretion		
http://purl.obolibrary.org/obo/GO_0070257	positive regulation of mucus secretion	http://purl.obolibrary.org/obo/GO_0070255	regulation of mucus secretion		
http://purl.obolibrary.org/obo/GO_1903489	positive regulation of lactation	http://purl.obolibrary.org/obo/GO_1903487	regulation of lactation		
http://purl.obolibrary.org/obo/GO_1903488	negative regulation of lactation	http://purl.obolibrary.org/obo/GO_1903487	regulation of lactation		
http://purl.obolibrary.org/obo/GO_2000293	negative regulation of defecation	http://purl.obolibrary.org/obo/GO_0060457	negative regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_0014053	negative regulation of gamma-aminobutyric acid secretion	http://purl.obolibrary.org/obo/GO_0014052	regulation of gamma-aminobutyric acid secretion		
http://purl.obolibrary.org/obo/GO_0060455	negative regulation of gastric acid secretion	http://purl.obolibrary.org/obo/GO_0060457	negative regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_0070256	negative regulation of mucus secretion	http://purl.obolibrary.org/obo/GO_0070255	regulation of mucus secretion		
http://purl.obolibrary.org/obo/GO_0006282	regulation of DNA repair	http://purl.obolibrary.org/obo/GO_0080135	regulation of cellular response to stress		
http://purl.obolibrary.org/obo/GO_0000018	regulation of DNA recombination	http://purl.obolibrary.org/obo/GO_0051052	regulation of DNA metabolic process		
http://purl.obolibrary.org/obo/GO_1901858	regulation of mitochondrial DNA metabolic process	http://purl.obolibrary.org/obo/GO_0051052	regulation of DNA metabolic process		
http://purl.obolibrary.org/obo/GO_0110111	negative regulation of animal organ morphogenesis	http://purl.obolibrary.org/obo/GO_2000027	regulation of animal organ morphogenesis		
http://purl.obolibrary.org/obo/GO_1901862	negative regulation of muscle tissue development	http://purl.obolibrary.org/obo/GO_1901861	regulation of muscle tissue development		
http://purl.obolibrary.org/obo/GO_1905331	negative regulation of morphogenesis of an epithelium	http://purl.obolibrary.org/obo/GO_1905330	regulation of morphogenesis of an epithelium		
http://purl.obolibrary.org/obo/GO_0048640	negative regulation of developmental growth	http://purl.obolibrary.org/obo/GO_0048638	regulation of developmental growth		
http://purl.obolibrary.org/obo/GO_0051961	negative regulation of nervous system development	http://purl.obolibrary.org/obo/GO_0051960	regulation of nervous system development		
http://purl.obolibrary.org/obo/GO_0061037	negative regulation of cartilage development	http://purl.obolibrary.org/obo/GO_0061035	regulation of cartilage development		
http://purl.obolibrary.org/obo/GO_0070168	negative regulation of biomineral tissue development	http://purl.obolibrary.org/obo/GO_0070167	regulation of biomineral tissue development		
http://purl.obolibrary.org/obo/GO_0045683	negative regulation of epidermis development	http://purl.obolibrary.org/obo/GO_0045682	regulation of epidermis development		
http://purl.obolibrary.org/obo/GO_2000384	negative regulation of ectoderm development	http://purl.obolibrary.org/obo/GO_2000383	regulation of ectoderm development		
http://purl.obolibrary.org/obo/GO_1903011	negative regulation of bone development	http://purl.obolibrary.org/obo/GO_1903010	regulation of bone development		
http://purl.obolibrary.org/obo/GO_2000381	negative regulation of mesoderm development	http://purl.obolibrary.org/obo/GO_2000380	regulation of mesoderm development		
http://purl.obolibrary.org/obo/GO_1905940	negative regulation of gonad development	http://purl.obolibrary.org/obo/GO_2000242	negative regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0048635	negative regulation of muscle organ development	http://purl.obolibrary.org/obo/GO_0048634	regulation of muscle organ development		
http://purl.obolibrary.org/obo/GO_1901343	negative regulation of vasculature development	http://purl.obolibrary.org/obo/GO_1901342	regulation of vasculature development		
http://purl.obolibrary.org/obo/GO_0110110	positive regulation of animal organ morphogenesis	http://purl.obolibrary.org/obo/GO_2000027	regulation of animal organ morphogenesis		
http://purl.obolibrary.org/obo/GO_1901863	positive regulation of muscle tissue development	http://purl.obolibrary.org/obo/GO_1901861	regulation of muscle tissue development		
http://purl.obolibrary.org/obo/GO_1904747	positive regulation of apoptotic process involved in development	http://purl.obolibrary.org/obo/GO_0043065	positive regulation of apoptotic process		
http://purl.obolibrary.org/obo/GO_0051962	positive regulation of nervous system development	http://purl.obolibrary.org/obo/GO_0051960	regulation of nervous system development		
http://purl.obolibrary.org/obo/GO_0061036	positive regulation of cartilage development	http://purl.obolibrary.org/obo/GO_0061035	regulation of cartilage development		
http://purl.obolibrary.org/obo/GO_0070169	positive regulation of biomineral tissue development	http://purl.obolibrary.org/obo/GO_0070167	regulation of biomineral tissue development		
http://purl.obolibrary.org/obo/GO_1905332	positive regulation of morphogenesis of an epithelium	http://purl.obolibrary.org/obo/GO_1905330	regulation of morphogenesis of an epithelium		
http://purl.obolibrary.org/obo/GO_0045684	positive regulation of epidermis development	http://purl.obolibrary.org/obo/GO_0045682	regulation of epidermis development		
http://purl.obolibrary.org/obo/GO_0048639	positive regulation of developmental growth	http://purl.obolibrary.org/obo/GO_0048638	regulation of developmental growth		
http://purl.obolibrary.org/obo/GO_1904018	positive regulation of vasculature development	http://purl.obolibrary.org/obo/GO_1901342	regulation of vasculature development		
http://purl.obolibrary.org/obo/GO_1903012	positive regulation of bone development	http://purl.obolibrary.org/obo/GO_1903010	regulation of bone development		
http://purl.obolibrary.org/obo/GO_2000382	positive regulation of mesoderm development	http://purl.obolibrary.org/obo/GO_2000380	regulation of mesoderm development		
http://purl.obolibrary.org/obo/GO_1905941	positive regulation of gonad development	http://purl.obolibrary.org/obo/GO_2000243	positive regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_2000385	positive regulation of ectoderm development	http://purl.obolibrary.org/obo/GO_2000383	regulation of ectoderm development		
http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0048636	positive regulation of muscle organ development	http://purl.obolibrary.org/obo/GO_0048634	regulation of muscle organ development		
http://purl.obolibrary.org/obo/GO_0043244	regulation of protein-containing complex disassembly	http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0033043	regulation of organelle organization	http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_1903053	regulation of extracellular matrix organization	http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0030100	regulation of endocytosis	http://purl.obolibrary.org/obo/GO_0060627	regulation of vesicle-mediated transport		
http://purl.obolibrary.org/obo/GO_1903729	regulation of plasma membrane organization	http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0031344	regulation of cell projection organization	http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0051130	positive regulation of cellular component organization	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_1905153	regulation of membrane invagination	http://purl.obolibrary.org/obo/GO_0051128	regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0060351	cartilage development involved in endochondral bone morphogenesis	http://purl.obolibrary.org/obo/GO_0051216	cartilage development		
http://purl.obolibrary.org/obo/GO_0048819	regulation of hair follicle maturation	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0046620	regulation of organ growth	http://purl.obolibrary.org/obo/GO_0048638	regulation of developmental growth		
http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0030278	regulation of ossification	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0034103	regulation of tissue remodeling	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0044057	regulation of system process	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0050795	regulation of behavior	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0050818	regulation of coagulation	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_1905879	regulation of oogenesis	http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0042634	regulation of hair cycle	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0043576	regulation of respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0045700	regulation of spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_1903353	regulation of nucleus organization		
http://purl.obolibrary.org/obo/GO_0010984	regulation of lipoprotein particle clearance	http://purl.obolibrary.org/obo/GO_0051239	regulation of multicellular organismal process		
http://purl.obolibrary.org/obo/GO_0060405	regulation of penile erection	http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0060456	positive regulation of digestive system process	http://purl.obolibrary.org/obo/GO_0044058	regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_1903942	positive regulation of respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_0043576	regulation of respiratory gaseous exchange		
http://purl.obolibrary.org/obo/GO_0031646	positive regulation of nervous system process	http://purl.obolibrary.org/obo/GO_0031644	regulation of nervous system process		
http://purl.obolibrary.org/obo/GO_0032278	positive regulation of gonadotropin secretion	http://purl.obolibrary.org/obo/GO_0046887	positive regulation of hormone secretion		
http://purl.obolibrary.org/obo/GO_0034105	positive regulation of tissue remodeling	http://purl.obolibrary.org/obo/GO_0034103	regulation of tissue remodeling		
http://purl.obolibrary.org/obo/GO_0045778	positive regulation of ossification	http://purl.obolibrary.org/obo/GO_0030278	regulation of ossification		
http://purl.obolibrary.org/obo/GO_0050820	positive regulation of coagulation	http://purl.obolibrary.org/obo/GO_0050818	regulation of coagulation		
http://purl.obolibrary.org/obo/GO_1905881	positive regulation of oogenesis	http://purl.obolibrary.org/obo/GO_2000243	positive regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0042635	positive regulation of hair cycle	http://purl.obolibrary.org/obo/GO_0042634	regulation of hair cycle		
http://purl.obolibrary.org/obo/GO_0045618	positive regulation of keratinocyte differentiation	http://purl.obolibrary.org/obo/GO_0045616	regulation of keratinocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045780	positive regulation of bone resorption	http://purl.obolibrary.org/obo/GO_0045124	regulation of bone resorption		
http://purl.obolibrary.org/obo/GO_1902492	positive regulation of sperm capacitation	http://purl.obolibrary.org/obo/GO_2000243	positive regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_2000830	positive regulation of parathyroid hormone secretion	http://purl.obolibrary.org/obo/GO_2000828	regulation of parathyroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2001153	positive regulation of renal water transport	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0010986	positive regulation of lipoprotein particle clearance	http://purl.obolibrary.org/obo/GO_0010984	regulation of lipoprotein particle clearance		
http://purl.obolibrary.org/obo/GO_0048520	positive regulation of behavior	http://purl.obolibrary.org/obo/GO_0050795	regulation of behavior		
http://purl.obolibrary.org/obo/GO_0060406	positive regulation of penile erection	http://purl.obolibrary.org/obo/GO_0060405	regulation of penile erection		
http://purl.obolibrary.org/obo/GO_1905278	positive regulation of epithelial tube formation	http://purl.obolibrary.org/obo/GO_1905276	regulation of epithelial tube formation		
http://purl.obolibrary.org/obo/GO_1903941	negative regulation of respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_0043576	regulation of respiratory gaseous exchange		
http://purl.obolibrary.org/obo/GO_1905277	negative regulation of epithelial tube formation	http://purl.obolibrary.org/obo/GO_1905276	regulation of epithelial tube formation		
http://purl.obolibrary.org/obo/GO_0030279	negative regulation of ossification	http://purl.obolibrary.org/obo/GO_0030278	regulation of ossification		
http://purl.obolibrary.org/obo/GO_0031645	negative regulation of nervous system process	http://purl.obolibrary.org/obo/GO_0031644	regulation of nervous system process		
http://purl.obolibrary.org/obo/GO_0032277	negative regulation of gonadotropin secretion	http://purl.obolibrary.org/obo/GO_0046888	negative regulation of hormone secretion		
http://purl.obolibrary.org/obo/GO_0034104	negative regulation of tissue remodeling	http://purl.obolibrary.org/obo/GO_0034103	regulation of tissue remodeling		
http://purl.obolibrary.org/obo/GO_0048521	negative regulation of behavior	http://purl.obolibrary.org/obo/GO_0050795	regulation of behavior		
http://purl.obolibrary.org/obo/GO_0050819	negative regulation of coagulation	http://purl.obolibrary.org/obo/GO_0050818	regulation of coagulation		
http://purl.obolibrary.org/obo/GO_1905880	negative regulation of oogenesis	http://purl.obolibrary.org/obo/GO_2000242	negative regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0042636	negative regulation of hair cycle	http://purl.obolibrary.org/obo/GO_0042634	regulation of hair cycle		
http://purl.obolibrary.org/obo/GO_0045617	negative regulation of keratinocyte differentiation	http://purl.obolibrary.org/obo/GO_0045616	regulation of keratinocyte differentiation		
http://purl.obolibrary.org/obo/GO_1902491	negative regulation of sperm capacitation	http://purl.obolibrary.org/obo/GO_2000242	negative regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_2000829	negative regulation of parathyroid hormone secretion	http://purl.obolibrary.org/obo/GO_2000828	regulation of parathyroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2001152	negative regulation of renal water transport	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0010985	negative regulation of lipoprotein particle clearance	http://purl.obolibrary.org/obo/GO_0010984	regulation of lipoprotein particle clearance		
http://purl.obolibrary.org/obo/GO_0060407	negative regulation of penile erection	http://purl.obolibrary.org/obo/GO_0060405	regulation of penile erection		
http://purl.obolibrary.org/obo/GO_0060457	negative regulation of digestive system process	http://purl.obolibrary.org/obo/GO_0044058	regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_0070192	chromosome organization involved in meiotic cell cycle	http://purl.obolibrary.org/obo/GO_1903046	meiotic cell cycle process		
http://purl.obolibrary.org/obo/GO_0071103	DNA conformation change	http://purl.obolibrary.org/obo/GO_0051276	chromosome organization		
http://purl.obolibrary.org/obo/GO_0000819	sister chromatid segregation	http://purl.obolibrary.org/obo/GO_0098813	nuclear chromosome segregation		
http://purl.obolibrary.org/obo/GO_0030261	chromosome condensation	http://purl.obolibrary.org/obo/GO_0051276	chromosome organization		
http://purl.obolibrary.org/obo/GO_0090139	mitochondrial chromosome packaging	http://purl.obolibrary.org/obo/GO_0051276	chromosome organization		
http://purl.obolibrary.org/obo/GO_0048137	spermatocyte division	http://purl.obolibrary.org/obo/GO_0051301	cell division		
http://purl.obolibrary.org/obo/GO_0040016	embryonic cleavage	http://purl.obolibrary.org/obo/GO_0051301	cell division		
http://purl.obolibrary.org/obo/GO_0017145	stem cell division	http://purl.obolibrary.org/obo/GO_0051301	cell division		
http://purl.obolibrary.org/obo/GO_2000035	regulation of stem cell division	http://purl.obolibrary.org/obo/GO_0051302	regulation of cell division		
http://purl.obolibrary.org/obo/GO_0051781	positive regulation of cell division	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0051494	negative regulation of cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0010639	negative regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0051495	positive regulation of cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0010638	positive regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0070507	regulation of microtubule cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0032886	regulation of microtubule-based process		
http://purl.obolibrary.org/obo/GO_0009617	response to bacterium	http://purl.obolibrary.org/obo/GO_0051707	response to other organism		
http://purl.obolibrary.org/obo/GO_0007346	regulation of mitotic cell cycle	http://purl.obolibrary.org/obo/GO_0051726	regulation of cell cycle		
http://purl.obolibrary.org/obo/GO_0010564	regulation of cell cycle process	http://purl.obolibrary.org/obo/GO_0051726	regulation of cell cycle		
http://purl.obolibrary.org/obo/GO_0045787	positive regulation of cell cycle	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0051445	regulation of meiotic cell cycle	http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_1903789	regulation of amino acid transmembrane transport	http://purl.obolibrary.org/obo/GO_0034762	regulation of transmembrane transport		
http://purl.obolibrary.org/obo/GO_0051956	negative regulation of amino acid transport	http://purl.obolibrary.org/obo/GO_0051953	negative regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0051957	positive regulation of amino acid transport	http://purl.obolibrary.org/obo/GO_0051954	positive regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0014048	regulation of glutamate secretion	http://purl.obolibrary.org/obo/GO_0032890	regulation of organic acid transport		
http://purl.obolibrary.org/obo/GO_0014050	negative regulation of glutamate secretion	http://purl.obolibrary.org/obo/GO_0014048	regulation of glutamate secretion		
http://purl.obolibrary.org/obo/GO_0014049	positive regulation of glutamate secretion	http://purl.obolibrary.org/obo/GO_0014048	regulation of glutamate secretion		
http://purl.obolibrary.org/obo/GO_0003995	acyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0052890	oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor		
http://purl.obolibrary.org/obo/GO_0080144	intracellular amino acid homeostasis	http://purl.obolibrary.org/obo/GO_0055082	intracellular chemical homeostasis		
http://purl.obolibrary.org/obo/GO_0001894	tissue homeostasis	http://purl.obolibrary.org/obo/GO_0060249	anatomical structure homeostasis		
http://purl.obolibrary.org/obo/GO_0010556	regulation of macromolecule biosynthetic process	http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010604	positive regulation of macromolecule metabolic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0010605	negative regulation of macromolecule metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0098773	skin epidermis development	http://purl.obolibrary.org/obo/GO_0008544	epidermis development		
http://purl.obolibrary.org/obo/GO_1902262	apoptotic process involved in blood vessel morphogenesis	http://purl.obolibrary.org/obo/GO_0060561	apoptotic process involved in morphogenesis		
http://purl.obolibrary.org/obo/GO_0001843	neural tube closure	http://purl.obolibrary.org/obo/GO_0060606	tube closure		
http://purl.obolibrary.org/obo/GO_0003352	regulation of cilium movement	http://purl.obolibrary.org/obo/GO_0060632	regulation of microtubule-based movement		
http://purl.obolibrary.org/obo/GO_0061620	glycolytic process through glucose-6-phosphate	http://purl.obolibrary.org/obo/GO_0061615	glycolytic process through fructose-6-phosphate		
http://purl.obolibrary.org/obo/GO_0008217	regulation of blood pressure	http://purl.obolibrary.org/obo/GO_0065008	regulation of biological quality		
http://purl.obolibrary.org/obo/GO_0010817	regulation of hormone levels	http://purl.obolibrary.org/obo/GO_0065008	regulation of biological quality		
http://purl.obolibrary.org/obo/GO_0042391	regulation of membrane potential	http://purl.obolibrary.org/obo/GO_0065008	regulation of biological quality		
http://purl.obolibrary.org/obo/GO_0050878	regulation of body fluid levels	http://purl.obolibrary.org/obo/GO_0065008	regulation of biological quality		
http://purl.obolibrary.org/obo/GO_0090066	regulation of anatomical structure size	http://purl.obolibrary.org/obo/GO_0065008	regulation of biological quality		
http://purl.obolibrary.org/obo/GO_0036374	glutathione gamma-glutamate hydrolase	http://purl.obolibrary.org/obo/GO_0008242	omega peptidase activity		
http://purl.obolibrary.org/obo/GO_0008240	tripeptidyl-peptidase activity	http://purl.obolibrary.org/obo/GO_0070008	serine-type exopeptidase activity		
http://purl.obolibrary.org/obo/GO_0001050	single-subunit type RNA polymerase binding	http://purl.obolibrary.org/obo/GO_0070063	RNA polymerase binding		
http://purl.obolibrary.org/obo/GO_0036293	response to decreased oxygen levels	http://purl.obolibrary.org/obo/GO_0070482	response to oxygen levels		
http://purl.obolibrary.org/obo/GO_0003020	detection of reduced oxygen by chemoreceptor signaling	http://purl.obolibrary.org/obo/GO_0070483	detection of hypoxia		
http://purl.obolibrary.org/obo/GO_0071396	cellular response to lipid	http://purl.obolibrary.org/obo/GO_0033993	response to lipid		
http://purl.obolibrary.org/obo/GO_0097237	cellular response to toxic substance	http://purl.obolibrary.org/obo/GO_0009636	response to toxic substance		
http://purl.obolibrary.org/obo/GO_1901699	cellular response to nitrogen compound	http://purl.obolibrary.org/obo/GO_1901698	response to nitrogen compound		
http://purl.obolibrary.org/obo/GO_1901701	cellular response to oxygen-containing compound	http://purl.obolibrary.org/obo/GO_1901700	response to oxygen-containing compound		
http://purl.obolibrary.org/obo/GO_0032870	cellular response to hormone stimulus	http://purl.obolibrary.org/obo/GO_0009725	response to hormone		
http://purl.obolibrary.org/obo/GO_1901653	cellular response to peptide	http://purl.obolibrary.org/obo/GO_1901652	response to peptide		
http://purl.obolibrary.org/obo/GO_0060271	cilium assembly	http://purl.obolibrary.org/obo/GO_0120031	plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_0140694	membraneless organelle assembly	http://purl.obolibrary.org/obo/GO_0070925	organelle assembly		
http://purl.obolibrary.org/obo/GO_0030593	neutrophil chemotaxis	http://purl.obolibrary.org/obo/GO_1990266	neutrophil migration		
http://purl.obolibrary.org/obo/GO_0048799	animal organ maturation	http://purl.obolibrary.org/obo/GO_0071695	anatomical structure maturation		
http://purl.obolibrary.org/obo/GO_0001838	embryonic epithelial tube formation	http://purl.obolibrary.org/obo/GO_0072175	epithelial tube formation		
http://purl.obolibrary.org/obo/GO_0006101	citrate metabolic process	http://purl.obolibrary.org/obo/GO_0072350	tricarboxylic acid metabolic process		
http://purl.obolibrary.org/obo/GO_0007597	blood coagulation, intrinsic pathway	http://purl.obolibrary.org/obo/GO_0072376	protein activation cascade		
http://purl.obolibrary.org/obo/GO_0007598	blood coagulation, extrinsic pathway	http://purl.obolibrary.org/obo/GO_0072376	protein activation cascade		
http://purl.obolibrary.org/obo/GO_0072378	blood coagulation, fibrin clot formation	http://purl.obolibrary.org/obo/GO_0072376	protein activation cascade		
http://purl.obolibrary.org/obo/GO_0072377	blood coagulation, common pathway	http://purl.obolibrary.org/obo/GO_0072376	protein activation cascade		
http://purl.obolibrary.org/obo/GO_0004339	glucan 1,4-alpha-glucosidase activity	http://purl.obolibrary.org/obo/GO_0090599	alpha-glucosidase activity		
http://purl.obolibrary.org/obo/GO_0003094	glomerular filtration	http://purl.obolibrary.org/obo/GO_0097205	renal filtration		
http://purl.obolibrary.org/obo/GO_0097530	granulocyte migration	http://purl.obolibrary.org/obo/GO_0097529	myeloid leukocyte migration		
http://purl.obolibrary.org/obo/GO_0042310	vasoconstriction	http://purl.obolibrary.org/obo/GO_0097746	blood vessel diameter maintenance		
http://purl.obolibrary.org/obo/GO_0140546	defense response to symbiont	http://purl.obolibrary.org/obo/GO_0098542	defense response to other organism		
http://purl.obolibrary.org/obo/GO_0030667	secretory granule membrane	http://purl.obolibrary.org/obo/GO_0030659	cytoplasmic vesicle membrane		
http://purl.obolibrary.org/obo/CHR_9606-chr5q2	5q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q22	5q22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q3	9q3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp1	Xp1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp11	Xp11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq22	Xq22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq27	Xq27 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq27.2	Xq27.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q24	17q24 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q24.2	17q24.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q21.1	9q21.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q21.13	9q21.13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr10p	10p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr10q	10q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr10q2	10q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr10q23	10q23 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr10q24	10q24 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11p	11p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11p1	11p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11p13	11p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11p15	11p15 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11p15.4	11p15.4 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11q	11q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11q2	11q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11q24	11q24 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11q24.1	11q24.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr12p	12p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr12p1	12p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr12p12	12p12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr12p12.1	12p12.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr12q	12q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr12q1	12q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr12q14	12q14 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr13p	13p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr13q	13q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr13q1	13q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr13q12	13q12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr13q12.3	13q12.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr13q14	13q14 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr13q3	13q3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr13q34	13q34 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q	14q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q1	14q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q11	14q11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q11.2	14q11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q12	14q12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q3	14q3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q32	14q32 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q32.2	14q32.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q	15q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q1	15q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q11	15q11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q11.2	15q11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q13	15q13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q13.3	15q13.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q14	15q14 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q2	15q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q24	15q24 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q25	15q25 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p	16p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p1	16p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p11	16p11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2	16p11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p12	16p12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1	16p12.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p13	16p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p13.1	16p13.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p13.11	16p13.11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p13.2	16p13.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p13.3	16p13.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16q	16q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16q2	16q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16q22	16q22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16q24	16q24 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16q24.1	16q24.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16q24.3	16q24.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17p	17p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17p1	17p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17p13	17p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17p13.1	17p13.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17p13.3	17p13.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q	17q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q1	17q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q11	17q11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q11.2	17q11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q12	17q12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q2	17q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q21	17q21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q21.3	17q21.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q21.31	17q21.31 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr18p	18p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr18q	18q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19p	19p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19p1	19p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19p13	19p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19p13.1	19p13.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19p13.12	19p13.12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19p13.13	19p13.13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19p13.3	19p13.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19q	19q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19q1	19q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19q13	19q13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19q13.1	19q13.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr19q13.11	19q13.11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p	1p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p2	1p2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p21	1p21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p21.3	1p21.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p3	1p3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p35	1p35 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p35.2	1p35.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p36	1p36 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1q	1q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1q2	1q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1q21	1q21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1q21.1	1q21.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1q4	1q4 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1q44	1q44 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20p	20p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20p1	20p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20p12	20p12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20p12.3	20p12.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20p13	20p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20q	20q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20q1	20q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20q11	20q11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20q11.2	20q11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20q13	20q13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20q13.3	20q13.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20q13.33	20q13.33 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr22q	22q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr22q1	22q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr22q11	22q11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr22q11.2	22q11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr22q13	22q13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p	2p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p1	2p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p13	2p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p13.2	2p13.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p16	2p16 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p16.3	2p16.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p2	2p2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p21	2p21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q	2q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q2	2q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q22	2q22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q23	2q23 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q23.1	2q23.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q24	2q24 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q3	2q3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q31	2q31 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q31.1	2q31.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q31.2	2q31.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q33	2q33 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q33.1	2q33.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q37	2q37 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3p	3p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3p2	3p2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3p25	3p25 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3p25.3	3p25.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q	3q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q1	3q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q13	3q13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q13.3	3q13.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q13.31	3q13.31 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q2	3q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q23	3q23 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q26	3q26 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q27	3q27 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q27.3	3q27.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr3q29	3q29 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr4p	4p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr4p1	4p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr4p16	4p16 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr4p16.3	4p16.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr4q	4q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr4q2	4q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr4q21	4q21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr4q25	4q25 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5p	5p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5p1	5p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5p13	5p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q	5q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q1	5q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q12	5q12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q14	5q14 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q14.3	5q14.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q22.2	5q22.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q3	5q3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q31	5q31 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q31.3	5q31.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr5q35	5q35 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6p	6p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6p2	6p2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6p22	6p22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6q	6q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6q1	6q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6q16	6q16 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7p	7p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7p2	7p2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7p22	7p22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7p22.1	7p22.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7q	7q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7q1	7q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7q11	7q11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7q11.2	7q11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7q11.23	7q11.23 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7q3	7q3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7q31	7q31 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7q36	7q36 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8p	8p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8p1	8p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8p11	8p11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8p11.2	8p11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8p2	8p2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8p23	8p23 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8p23.1	8p23.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q	8q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q1	8q1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q12	8q12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q2	8q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q21	8q21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q21.1	8q21.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q21.11	8q21.11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q22	8q22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q22.1	8q22.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q24	8q24 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q24.3	8q24.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9p	9p (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9p1	9p1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9p13	9p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q	9q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q2	9q2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q21	9q21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q22	9q22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q22.3	9q22.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q34	9q34 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp	Xp (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp11.3	Xp11.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp2	Xp2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp21	Xp21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp22	Xp22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp22.3	Xp22.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq	Xq (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq2	Xq2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq22.3	Xq22.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq25	Xq25 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq26	Xq26 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq28	Xq28 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/GO_0000781	chromosome, telomeric region	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr10p11.21-p12.31	10p11.21-p12.31 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr10q22.3-q23.3	10q22.3-q23.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11p15-p14	11p15-p14 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr11q22.2-q22.3	11q22.2-q22.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr12q15-q21.1	12q15-q21.1 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q11-q22	14q11-q22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q22-q23	14q22-q23 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr14q24.1-q24.3	14q24.1-q24.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q11-q13	15q11-q13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr15q26-qter	15q26-qter (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p11.2-p12.2	16p11.2-p12.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p12.1-p12.3	16p12.1-p12.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr16p12.2-p11.2	16p12.2-p11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr17q23.1-q23.2	17q23.1-q23.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1p32-p31	1p32-p31 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1q12-q21	1q12-q21 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr1q41-q42	1q41-q42 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr20q13.2-q13.3	20q13.2-q13.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr21q	21q (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr21q22.11-q22.12	21q22.11-q22.12 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr21q22.13-q22.2	21q22.13-q22.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p12-p11.2	2p12-p11.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2p16.1-p15	2p16.1-p15 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q32-q33	2q32-q33 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr2q35	2q35 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6pter-p24	6pter-p24 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6q11-q14	6q11-q14 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr6q24-q25	6q24-q25 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr7p11.2-p13	7p11.2-p13 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr8q12.1-q21.2	8q12.1-q21.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q31.1-q31.3	9q31.1-q31.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chr9q33.3-q34.11	9q33.3-q34.11 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp11.23-p11.22	Xp11.23-p11.22 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXp22.13-p22.2	Xp22.13-p22.2 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq12-q13.3	Xq12-q13.3 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/CHR_9606-chrXq27.3-q28	Xq27.3-q28 (Human)	http://purl.obolibrary.org/obo/GO_0098687	chromosomal region		
http://purl.obolibrary.org/obo/GO_0046930	pore complex	http://purl.obolibrary.org/obo/GO_0098796	membrane protein complex		
http://purl.obolibrary.org/obo/GO_0098797	plasma membrane protein complex	http://purl.obolibrary.org/obo/GO_0098796	membrane protein complex		
http://purl.obolibrary.org/obo/GO_0030964	NADH dehydrogenase complex	http://purl.obolibrary.org/obo/GO_1990204	oxidoreductase complex		
http://purl.obolibrary.org/obo/GO_0031201	SNARE complex	http://purl.obolibrary.org/obo/GO_0098796	membrane protein complex		
http://purl.obolibrary.org/obo/GO_0035369	pre-B cell receptor complex	http://purl.obolibrary.org/obo/GO_0098796	membrane protein complex		
http://purl.obolibrary.org/obo/GO_0016469	proton-transporting two-sector ATPase complex	http://purl.obolibrary.org/obo/GO_0098796	membrane protein complex		
http://purl.obolibrary.org/obo/GO_1902495	transmembrane transporter complex	http://purl.obolibrary.org/obo/GO_1990351	transporter complex		
http://purl.obolibrary.org/obo/GO_0032997	Fc receptor complex	http://purl.obolibrary.org/obo/GO_0098797	plasma membrane protein complex		
http://purl.obolibrary.org/obo/GO_0042611	MHC protein complex	http://purl.obolibrary.org/obo/GO_0098797	plasma membrane protein complex		
http://purl.obolibrary.org/obo/GO_0043020	NADPH oxidase complex	http://purl.obolibrary.org/obo/GO_1990204	oxidoreductase complex		
http://purl.obolibrary.org/obo/GO_0016010	dystrophin-associated glycoprotein complex	http://purl.obolibrary.org/obo/GO_0090665	glycoprotein complex		
http://purl.obolibrary.org/obo/GO_0016011	dystroglycan complex	http://purl.obolibrary.org/obo/GO_0098797	plasma membrane protein complex		
http://purl.obolibrary.org/obo/GO_0016012	sarcoglycan complex	http://purl.obolibrary.org/obo/GO_0098797	plasma membrane protein complex		
http://purl.obolibrary.org/obo/GO_0003093	regulation of glomerular filtration	http://purl.obolibrary.org/obo/GO_0098801	regulation of renal system process		
http://purl.obolibrary.org/obo/GO_0045132	meiotic chromosome segregation	http://purl.obolibrary.org/obo/GO_1903046	meiotic cell cycle process		
http://purl.obolibrary.org/obo/GO_0017119	COG complex	http://purl.obolibrary.org/obo/GO_0099023	vesicle tethering complex		
http://purl.obolibrary.org/obo/GO_0098647	collagen beaded filament	http://purl.obolibrary.org/obo/GO_0098644	complex of collagen trimers		
http://purl.obolibrary.org/obo/GO_0099513	polymeric cytoskeletal fiber	http://purl.obolibrary.org/obo/GO_0099512	supramolecular fiber		
http://purl.obolibrary.org/obo/GO_0071953	elastic fiber	http://purl.obolibrary.org/obo/GO_0099512	supramolecular fiber		
http://purl.obolibrary.org/obo/GO_0005874	microtubule	http://purl.obolibrary.org/obo/GO_0099513	polymeric cytoskeletal fiber		
http://purl.obolibrary.org/obo/GO_0005882	intermediate filament	http://purl.obolibrary.org/obo/GO_0099513	polymeric cytoskeletal fiber		
http://purl.obolibrary.org/obo/GO_0005884	actin filament	http://purl.obolibrary.org/obo/GO_0099513	polymeric cytoskeletal fiber		
http://purl.obolibrary.org/obo/GO_0006544	glycine metabolic process	http://purl.obolibrary.org/obo/GO_0170039	proteinogenic amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006591	ornithine metabolic process	http://purl.obolibrary.org/obo/GO_0170041	non-proteinogenic amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process	http://purl.obolibrary.org/obo/GO_1901605	alpha-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0009070	serine family amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_1901607	alpha-amino acid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0170034	L-amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0033280	response to vitamin D	http://purl.obolibrary.org/obo/GO_0033993	response to lipid		
http://purl.obolibrary.org/obo/GO_0043434	response to peptide hormone	http://purl.obolibrary.org/obo/GO_1901698	response to nitrogen compound		
http://purl.obolibrary.org/obo/GO_0009743	response to carbohydrate	http://purl.obolibrary.org/obo/GO_1901700	response to oxygen-containing compound		
http://purl.obolibrary.org/obo/GO_1902106	negative regulation of leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1903707	negative regulation of hemopoiesis		
http://purl.obolibrary.org/obo/GO_1902107	positive regulation of leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1903708	positive regulation of hemopoiesis		
http://purl.obolibrary.org/obo/GO_0045619	regulation of lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0051249	regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_2001198	regulation of dendritic cell differentiation	http://purl.obolibrary.org/obo/GO_1902105	regulation of leukocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045620	negative regulation of lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0051250	negative regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_2001199	negative regulation of dendritic cell differentiation	http://purl.obolibrary.org/obo/GO_2001198	regulation of dendritic cell differentiation		
http://purl.obolibrary.org/obo/GO_0045621	positive regulation of lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0051251	positive regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_2001200	positive regulation of dendritic cell differentiation	http://purl.obolibrary.org/obo/GO_2001198	regulation of dendritic cell differentiation		
http://purl.obolibrary.org/obo/GO_0045259	proton-transporting ATP synthase complex	http://purl.obolibrary.org/obo/GO_0034703	cation channel complex		
http://purl.obolibrary.org/obo/GO_1990204	oxidoreductase complex	http://purl.obolibrary.org/obo/GO_1902494	catalytic complex		
http://purl.obolibrary.org/obo/GO_1990234	transferase complex	http://purl.obolibrary.org/obo/GO_1902494	catalytic complex		
http://purl.obolibrary.org/obo/GO_0070069	cytochrome complex	http://purl.obolibrary.org/obo/GO_1902494	catalytic complex		
http://purl.obolibrary.org/obo/GO_1904949	ATPase complex	http://purl.obolibrary.org/obo/GO_1902494	catalytic complex		
http://purl.obolibrary.org/obo/GO_0060561	apoptotic process involved in morphogenesis	http://purl.obolibrary.org/obo/GO_1902742	apoptotic process involved in development		
http://purl.obolibrary.org/obo/GO_0061983	meiosis II cell cycle process	http://purl.obolibrary.org/obo/GO_1903046	meiotic cell cycle process		
http://purl.obolibrary.org/obo/GO_0003330	regulation of extracellular matrix constituent secretion	http://purl.obolibrary.org/obo/GO_1903530	regulation of secretion by cell		
http://purl.obolibrary.org/obo/GO_1903054	negative regulation of extracellular matrix organization	http://purl.obolibrary.org/obo/GO_0051129	negative regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_1903055	positive regulation of extracellular matrix organization	http://purl.obolibrary.org/obo/GO_0051130	positive regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0050708	regulation of protein secretion	http://purl.obolibrary.org/obo/GO_0051223	regulation of protein transport		
http://purl.obolibrary.org/obo/GO_0017157	regulation of exocytosis	http://purl.obolibrary.org/obo/GO_0060627	regulation of vesicle-mediated transport		
http://purl.obolibrary.org/obo/GO_0014062	regulation of serotonin secretion	http://purl.obolibrary.org/obo/GO_0043269	regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0050433	regulation of catecholamine secretion	http://purl.obolibrary.org/obo/GO_0051952	regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0014063	negative regulation of serotonin secretion	http://purl.obolibrary.org/obo/GO_0043271	negative regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0033604	negative regulation of catecholamine secretion	http://purl.obolibrary.org/obo/GO_0051953	negative regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0014064	positive regulation of serotonin secretion	http://purl.obolibrary.org/obo/GO_0043270	positive regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0033605	positive regulation of catecholamine secretion	http://purl.obolibrary.org/obo/GO_0051954	positive regulation of amine transport		
http://purl.obolibrary.org/obo/GO_1903579	negative regulation of ATP metabolic process	http://purl.obolibrary.org/obo/GO_1900543	negative regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_1903580	positive regulation of ATP metabolic process	http://purl.obolibrary.org/obo/GO_1900544	positive regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_2001169	regulation of ATP biosynthetic process	http://purl.obolibrary.org/obo/GO_1900371	regulation of purine nucleotide biosynthetic process		
http://purl.obolibrary.org/obo/GO_1902338	negative regulation of apoptotic process involved in morphogenesis	http://purl.obolibrary.org/obo/GO_1904746	negative regulation of apoptotic process involved in development		
http://purl.obolibrary.org/obo/GO_1902339	positive regulation of apoptotic process involved in morphogenesis	http://purl.obolibrary.org/obo/GO_1904747	positive regulation of apoptotic process involved in development		
http://purl.obolibrary.org/obo/GO_1905553	regulation of blood vessel branching	http://purl.obolibrary.org/obo/GO_0060688	regulation of morphogenesis of a branching structure		
http://purl.obolibrary.org/obo/GO_1905276	regulation of epithelial tube formation	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_0045240	alpha-ketoacid dehydrogenase complex	http://purl.obolibrary.org/obo/GO_1990204	oxidoreductase complex		
http://purl.obolibrary.org/obo/GO_1902493	acetyltransferase complex	http://purl.obolibrary.org/obo/GO_1990234	transferase complex		
http://purl.obolibrary.org/obo/GO_0048580	regulation of post-embryonic development	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_0051797	regulation of hair follicle development	http://purl.obolibrary.org/obo/GO_0042634	regulation of hair cycle		
http://purl.obolibrary.org/obo/GO_0045995	regulation of embryonic development	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_0061035	regulation of cartilage development	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_1903010	regulation of bone development	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_0030856	regulation of epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0051960	regulation of nervous system development	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_0070167	regulation of biomineral tissue development	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_1901342	regulation of vasculature development	http://purl.obolibrary.org/obo/GO_2000026	regulation of multicellular organismal development		
http://purl.obolibrary.org/obo/GO_2000194	regulation of female gonad development	http://purl.obolibrary.org/obo/GO_1905939	regulation of gonad development		
http://purl.obolibrary.org/obo/GO_0042481	regulation of odontogenesis	http://purl.obolibrary.org/obo/GO_2000027	regulation of animal organ morphogenesis		
http://purl.obolibrary.org/obo/GO_2000258	negative regulation of protein activation cascade	http://purl.obolibrary.org/obo/GO_1903318	negative regulation of protein maturation		
http://purl.obolibrary.org/obo/GO_2000259	positive regulation of protein activation cascade	http://purl.obolibrary.org/obo/GO_1903319	positive regulation of protein maturation		
http://purl.obolibrary.org/obo/GO_2000260	regulation of blood coagulation, common pathway	http://purl.obolibrary.org/obo/GO_0030193	regulation of blood coagulation		
http://purl.obolibrary.org/obo/GO_2000263	regulation of blood coagulation, extrinsic pathway	http://purl.obolibrary.org/obo/GO_0030193	regulation of blood coagulation		
http://purl.obolibrary.org/obo/GO_2000266	regulation of blood coagulation, intrinsic pathway	http://purl.obolibrary.org/obo/GO_0030193	regulation of blood coagulation		
http://purl.obolibrary.org/obo/GO_2000261	negative regulation of blood coagulation, common pathway	http://purl.obolibrary.org/obo/GO_0030195	negative regulation of blood coagulation		
http://purl.obolibrary.org/obo/GO_2000264	negative regulation of blood coagulation, extrinsic pathway	http://purl.obolibrary.org/obo/GO_0030195	negative regulation of blood coagulation		
http://purl.obolibrary.org/obo/GO_2000267	negative regulation of blood coagulation, intrinsic pathway	http://purl.obolibrary.org/obo/GO_0030195	negative regulation of blood coagulation		
http://purl.obolibrary.org/obo/GO_2000859	negative regulation of aldosterone secretion	http://purl.obolibrary.org/obo/GO_2000856	negative regulation of mineralocorticoid secretion		
http://purl.obolibrary.org/obo/GO_2000860	positive regulation of aldosterone secretion	http://purl.obolibrary.org/obo/GO_2000857	positive regulation of mineralocorticoid secretion		
http://purl.obolibrary.org/obo/GO_0019218	regulation of steroid metabolic process	http://purl.obolibrary.org/obo/GO_0019216	regulation of lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0019747	regulation of isoprenoid metabolic process	http://purl.obolibrary.org/obo/GO_0019216	regulation of lipid metabolic process		
http://purl.obolibrary.org/obo/GO_0046890	regulation of lipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045833	negative regulation of lipid metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0045834	positive regulation of lipid metabolic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_1903725	regulation of phospholipid metabolic process	http://purl.obolibrary.org/obo/GO_0051174	regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0050994	regulation of lipid catabolic process	http://purl.obolibrary.org/obo/GO_0009894	regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0051355	proprioception involved in equilibrioception	http://purl.obolibrary.org/obo/GO_0019230	proprioception		
http://purl.obolibrary.org/obo/GO_0019232	perception of rate of movement	http://purl.obolibrary.org/obo/GO_0019230	proprioception		
http://purl.obolibrary.org/obo/GO_0042571	immunoglobulin complex, circulating	http://purl.obolibrary.org/obo/GO_0140392	extracellular protein-containing complex		
http://purl.obolibrary.org/obo/GO_0071735	IgG immunoglobulin complex	http://purl.obolibrary.org/obo/GO_0019814	immunoglobulin complex		
http://purl.obolibrary.org/obo/GO_0071738	IgD immunoglobulin complex	http://purl.obolibrary.org/obo/GO_0019814	immunoglobulin complex		
http://purl.obolibrary.org/obo/GO_0071742	IgE immunoglobulin complex	http://purl.obolibrary.org/obo/GO_0019814	immunoglobulin complex		
http://purl.obolibrary.org/obo/GO_0071745	IgA immunoglobulin complex	http://purl.obolibrary.org/obo/GO_0019814	immunoglobulin complex		
http://purl.obolibrary.org/obo/GO_0071753	IgM immunoglobulin complex	http://purl.obolibrary.org/obo/GO_0019814	immunoglobulin complex		
http://purl.obolibrary.org/obo/GO_0048699	generation of neurons	http://purl.obolibrary.org/obo/GO_0022008	neurogenesis		
http://purl.obolibrary.org/obo/GO_0042063	gliogenesis	http://purl.obolibrary.org/obo/GO_0022008	neurogenesis		
http://purl.obolibrary.org/obo/GO_1903037	regulation of leukocyte cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0022407	regulation of cell-cell adhesion		
http://purl.obolibrary.org/obo/GO_0022409	positive regulation of cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0045785	positive regulation of cell adhesion		
http://purl.obolibrary.org/obo/GO_0042747	circadian sleep/wake cycle, REM sleep	http://purl.obolibrary.org/obo/GO_0022410	circadian sleep/wake cycle process		
http://purl.obolibrary.org/obo/GO_0050802	circadian sleep/wake cycle, sleep	http://purl.obolibrary.org/obo/GO_0030431	sleep		
http://purl.obolibrary.org/obo/GO_0042697	menopause	http://purl.obolibrary.org/obo/GO_1990636	reproductive senescence		
http://purl.obolibrary.org/obo/GO_0042703	menstruation	http://purl.obolibrary.org/obo/GO_0022601	menstrual cycle phase		
http://purl.obolibrary.org/obo/GO_0022832	voltage-gated channel activity	http://purl.obolibrary.org/obo/GO_0022836	gated channel activity		
http://purl.obolibrary.org/obo/GO_0022834	ligand-gated channel activity	http://purl.obolibrary.org/obo/GO_0022836	gated channel activity		
http://purl.obolibrary.org/obo/GO_2000310	regulation of NMDA receptor activity	http://purl.obolibrary.org/obo/GO_0099601	regulation of neurotransmitter receptor activity		
http://purl.obolibrary.org/obo/GO_0032414	positive regulation of ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0034767	positive regulation of monoatomic ion transmembrane transport		
http://purl.obolibrary.org/obo/GO_0032413	negative regulation of ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0034766	negative regulation of monoatomic ion transmembrane transport		
http://purl.obolibrary.org/obo/GO_0099643	signal release from synapse	http://purl.obolibrary.org/obo/GO_0023061	signal release		
http://purl.obolibrary.org/obo/GO_0014046	dopamine secretion	http://purl.obolibrary.org/obo/GO_0050432	catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0048243	norepinephrine secretion	http://purl.obolibrary.org/obo/GO_0050432	catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0061526	acetylcholine secretion	http://purl.obolibrary.org/obo/GO_0015870	acetylcholine transport		
http://purl.obolibrary.org/obo/GO_0120036	plasma membrane bounded cell projection organization	http://purl.obolibrary.org/obo/GO_0030030	cell projection organization		
http://purl.obolibrary.org/obo/GO_0051458	corticotropin secretion	http://purl.obolibrary.org/obo/GO_0060986	endocrine hormone secretion		
http://purl.obolibrary.org/obo/GO_0030103	vasopressin secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0030252	growth hormone secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0036160	melanocyte-stimulating hormone secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0036161	calcitonin secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0070091	glucagon secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0070253	somatostatin secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0070460	thyroid-stimulating hormone secretion	http://purl.obolibrary.org/obo/GO_0030072	peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0045806	negative regulation of endocytosis	http://purl.obolibrary.org/obo/GO_0051129	negative regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0045807	positive regulation of endocytosis	http://purl.obolibrary.org/obo/GO_0051130	positive regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0050764	regulation of phagocytosis	http://purl.obolibrary.org/obo/GO_0030100	regulation of endocytosis		
http://purl.obolibrary.org/obo/GO_0048259	regulation of receptor-mediated endocytosis	http://purl.obolibrary.org/obo/GO_0030100	regulation of endocytosis		
http://purl.obolibrary.org/obo/GO_0045861	negative regulation of proteolysis	http://purl.obolibrary.org/obo/GO_0051248	negative regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0045862	positive regulation of proteolysis	http://purl.obolibrary.org/obo/GO_0051247	positive regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0052547	regulation of peptidase activity	http://purl.obolibrary.org/obo/GO_0051336	regulation of hydrolase activity		
http://purl.obolibrary.org/obo/GO_0070613	regulation of protein processing	http://purl.obolibrary.org/obo/GO_1903317	regulation of protein maturation		
http://purl.obolibrary.org/obo/GO_0030210	heparin proteoglycan biosynthetic process	http://purl.obolibrary.org/obo/GO_0180064	protein O-linked glycosylation via xylose		
http://purl.obolibrary.org/obo/GO_0030500	regulation of bone mineralization	http://purl.obolibrary.org/obo/GO_0070167	regulation of biomineral tissue development		
http://purl.obolibrary.org/obo/GO_0030502	negative regulation of bone mineralization	http://purl.obolibrary.org/obo/GO_0070168	negative regulation of biomineral tissue development		
http://purl.obolibrary.org/obo/GO_0035630	bone mineralization involved in bone maturation	http://purl.obolibrary.org/obo/GO_0030282	bone mineralization		
http://purl.obolibrary.org/obo/GO_0043539	protein serine/threonine kinase activator activity	http://purl.obolibrary.org/obo/GO_0030295	protein kinase activator activity		
http://purl.obolibrary.org/obo/NBO_0000024	sleeping behavior	http://purl.obolibrary.org/obo/NBO_0000008	rhythmic behavior		
http://purl.obolibrary.org/obo/GO_0030501	positive regulation of bone mineralization	http://purl.obolibrary.org/obo/GO_0070169	positive regulation of biomineral tissue development		
http://purl.obolibrary.org/obo/GO_1900159	positive regulation of bone mineralization involved in bone maturation	http://purl.obolibrary.org/obo/GO_0030501	positive regulation of bone mineralization		
http://purl.obolibrary.org/obo/GO_1900158	negative regulation of bone mineralization involved in bone maturation	http://purl.obolibrary.org/obo/GO_0030502	negative regulation of bone mineralization		
http://purl.obolibrary.org/obo/GO_0030521	androgen receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0030518	nuclear receptor-mediated steroid hormone signaling pathway		
http://purl.obolibrary.org/obo/GO_0030547	signaling receptor inhibitor activity	http://purl.obolibrary.org/obo/GO_0140678	molecular function inhibitor activity		
http://purl.obolibrary.org/obo/GO_0099602	neurotransmitter receptor regulator activity	http://purl.obolibrary.org/obo/GO_0030545	signaling receptor regulator activity		
http://purl.obolibrary.org/obo/GO_0030546	signaling receptor activator activity	http://purl.obolibrary.org/obo/GO_0140677	molecular function activator activity		
http://purl.obolibrary.org/obo/GO_0060556	regulation of vitamin D biosynthetic process	http://purl.obolibrary.org/obo/GO_0050810	regulation of steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0030809	negative regulation of nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0009890	negative regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0030810	positive regulation of nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0009891	positive regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_1900371	regulation of purine nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_1900542	regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_1900372	negative regulation of purine nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_1900543	negative regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_1900373	positive regulation of purine nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_1900544	positive regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0030812	negative regulation of nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_0009895	negative regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0030813	positive regulation of nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_0009896	positive regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0033121	regulation of purine nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_1900542	regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0033122	negative regulation of purine nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_1900543	negative regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0033123	positive regulation of purine nucleotide catabolic process	http://purl.obolibrary.org/obo/GO_1900544	positive regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0030221	basophil differentiation	http://purl.obolibrary.org/obo/GO_0030851	granulocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045640	regulation of basophil differentiation	http://purl.obolibrary.org/obo/GO_0030852	regulation of granulocyte differentiation		
http://purl.obolibrary.org/obo/GO_0045641	negative regulation of basophil differentiation	http://purl.obolibrary.org/obo/GO_0045640	regulation of basophil differentiation		
http://purl.obolibrary.org/obo/GO_0045642	positive regulation of basophil differentiation	http://purl.obolibrary.org/obo/GO_0045640	regulation of basophil differentiation		
http://purl.obolibrary.org/obo/GO_0030858	positive regulation of epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0045604	regulation of epidermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045682	regulation of epidermis development		
http://purl.obolibrary.org/obo/GO_0045606	positive regulation of epidermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045684	positive regulation of epidermis development		
http://purl.obolibrary.org/obo/GO_0045271	respiratory chain complex I	http://purl.obolibrary.org/obo/GO_1902495	transmembrane transporter complex		
http://purl.obolibrary.org/obo/GO_0098534	centriole assembly	http://purl.obolibrary.org/obo/GO_0140694	membraneless organelle assembly		
http://purl.obolibrary.org/obo/GO_0030282	bone mineralization	http://purl.obolibrary.org/obo/GO_0031214	biomineral tissue development		
http://purl.obolibrary.org/obo/GO_0031339	negative regulation of vesicle fusion	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0031340	positive regulation of vesicle fusion	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0031643	positive regulation of myelination	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0051931	regulation of sensory perception	http://purl.obolibrary.org/obo/GO_0031644	regulation of nervous system process		
http://purl.obolibrary.org/obo/GO_1904057	negative regulation of sensory perception of pain	http://purl.obolibrary.org/obo/GO_0051930	regulation of sensory perception of pain		
http://purl.obolibrary.org/obo/GO_1905788	negative regulation of detection of mechanical stimulus involved in sensory perception of touch	http://purl.obolibrary.org/obo/GO_0032102	negative regulation of response to external stimulus		
http://purl.obolibrary.org/obo/GO_0051970	negative regulation of transmission of nerve impulse	http://purl.obolibrary.org/obo/GO_0010648	negative regulation of cell communication		
http://purl.obolibrary.org/obo/GO_1904058	positive regulation of sensory perception of pain	http://purl.obolibrary.org/obo/GO_0051930	regulation of sensory perception of pain		
http://purl.obolibrary.org/obo/GO_0051971	positive regulation of transmission of nerve impulse	http://purl.obolibrary.org/obo/GO_0010647	positive regulation of cell communication		
http://purl.obolibrary.org/obo/GO_0071295	cellular response to vitamin	http://purl.obolibrary.org/obo/GO_0033273	response to vitamin		
http://purl.obolibrary.org/obo/GO_0031947	negative regulation of glucocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0090032	negative regulation of steroid hormone biosynthetic process		
http://purl.obolibrary.org/obo/GO_0031948	positive regulation of glucocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0090031	positive regulation of steroid hormone biosynthetic process		
http://purl.obolibrary.org/obo/GO_2000065	negative regulation of cortisol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902931	negative regulation of alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_2000066	positive regulation of cortisol biosynthetic process	http://purl.obolibrary.org/obo/GO_1902932	positive regulation of alcohol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	http://purl.obolibrary.org/obo/GO_0061178	regulation of insulin secretion involved in cellular response to glucose stimulus		
http://purl.obolibrary.org/obo/GO_1990625	negative regulation of cytoplasmic translational initiation in response to stress	http://purl.obolibrary.org/obo/GO_1990611	regulation of cytoplasmic translational initiation in response to stress		
http://purl.obolibrary.org/obo/GO_0070562	regulation of vitamin D receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1902531	regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0032229	negative regulation of synaptic transmission, GABAergic	http://purl.obolibrary.org/obo/GO_0050805	negative regulation of synaptic transmission		
http://purl.obolibrary.org/obo/GO_0032275	luteinizing hormone secretion	http://purl.obolibrary.org/obo/GO_0032274	gonadotropin secretion		
http://purl.obolibrary.org/obo/GO_0033684	regulation of luteinizing hormone secretion	http://purl.obolibrary.org/obo/GO_0032276	regulation of gonadotropin secretion		
http://purl.obolibrary.org/obo/GO_0033685	negative regulation of luteinizing hormone secretion	http://purl.obolibrary.org/obo/GO_0033684	regulation of luteinizing hormone secretion		
http://purl.obolibrary.org/obo/GO_0033686	positive regulation of luteinizing hormone secretion	http://purl.obolibrary.org/obo/GO_0033684	regulation of luteinizing hormone secretion		
http://purl.obolibrary.org/obo/GO_0022010	central nervous system myelination	http://purl.obolibrary.org/obo/GO_0042552	myelination		
http://purl.obolibrary.org/obo/GO_0022011	myelination in peripheral nervous system	http://purl.obolibrary.org/obo/GO_0042552	myelination		
http://purl.obolibrary.org/obo/GO_2000610	negative regulation of thyroid hormone generation	http://purl.obolibrary.org/obo/GO_2000609	regulation of thyroid hormone generation		
http://purl.obolibrary.org/obo/GO_2000611	positive regulation of thyroid hormone generation	http://purl.obolibrary.org/obo/GO_2000609	regulation of thyroid hormone generation		
http://purl.obolibrary.org/obo/GO_2000844	negative regulation of testosterone secretion	http://purl.obolibrary.org/obo/GO_2000843	regulation of testosterone secretion		
http://purl.obolibrary.org/obo/GO_2000845	positive regulation of testosterone secretion	http://purl.obolibrary.org/obo/GO_2000843	regulation of testosterone secretion		
http://purl.obolibrary.org/obo/GO_0032388	positive regulation of intracellular transport	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0033157	regulation of intracellular protein transport	http://purl.obolibrary.org/obo/GO_0051223	regulation of protein transport		
http://purl.obolibrary.org/obo/GO_1903335	regulation of vacuolar transport	http://purl.obolibrary.org/obo/GO_0032386	regulation of intracellular transport		
http://purl.obolibrary.org/obo/GO_0090317	negative regulation of intracellular protein transport	http://purl.obolibrary.org/obo/GO_0051224	negative regulation of protein transport		
http://purl.obolibrary.org/obo/GO_1903336	negative regulation of vacuolar transport	http://purl.obolibrary.org/obo/GO_1903335	regulation of vacuolar transport		
http://purl.obolibrary.org/obo/GO_0090316	positive regulation of intracellular protein transport	http://purl.obolibrary.org/obo/GO_0051222	positive regulation of protein transport		
http://purl.obolibrary.org/obo/GO_1903337	positive regulation of vacuolar transport	http://purl.obolibrary.org/obo/GO_1903335	regulation of vacuolar transport		
http://purl.obolibrary.org/obo/GO_2001259	positive regulation of cation channel activity	http://purl.obolibrary.org/obo/GO_1904064	positive regulation of cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0032869	cellular response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0071375	cellular response to peptide hormone stimulus		
http://purl.obolibrary.org/obo/GO_0070201	regulation of establishment of protein localization	http://purl.obolibrary.org/obo/GO_0032880	regulation of protein localization		
http://purl.obolibrary.org/obo/GO_1903564	regulation of protein localization to cilium	http://purl.obolibrary.org/obo/GO_0032880	regulation of protein localization		
http://purl.obolibrary.org/obo/GO_0060632	regulation of microtubule-based movement	http://purl.obolibrary.org/obo/GO_0032886	regulation of microtubule-based process		
http://purl.obolibrary.org/obo/GO_0032891	negative regulation of organic acid transport	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0032892	positive regulation of organic acid transport	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0071829	plasma lipoprotein particle disassembly	http://purl.obolibrary.org/obo/GO_0071827	plasma lipoprotein particle organization		
http://purl.obolibrary.org/obo/GO_0033001	Fc-gamma receptor III complex	http://purl.obolibrary.org/obo/GO_0032997	Fc receptor complex		
http://purl.obolibrary.org/obo/GO_0033045	regulation of sister chromatid segregation	http://purl.obolibrary.org/obo/GO_0051983	regulation of chromosome segregation		
http://purl.obolibrary.org/obo/GO_2001251	negative regulation of chromosome organization	http://purl.obolibrary.org/obo/GO_0010639	negative regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_2001252	positive regulation of chromosome organization	http://purl.obolibrary.org/obo/GO_0010638	positive regulation of organelle organization		
http://purl.obolibrary.org/obo/GO_0060623	regulation of chromosome condensation	http://purl.obolibrary.org/obo/GO_0033044	regulation of chromosome organization		
http://purl.obolibrary.org/obo/GO_0033048	negative regulation of mitotic sister chromatid segregation	http://purl.obolibrary.org/obo/GO_0033047	regulation of mitotic sister chromatid segregation		
http://purl.obolibrary.org/obo/GO_0033085	negative regulation of T cell differentiation in thymus	http://purl.obolibrary.org/obo/GO_0045581	negative regulation of T cell differentiation		
http://purl.obolibrary.org/obo/GO_0033089	positive regulation of T cell differentiation in thymus	http://purl.obolibrary.org/obo/GO_0045582	positive regulation of T cell differentiation		
http://purl.obolibrary.org/obo/GO_0033144	negative regulation of intracellular steroid hormone receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1902532	negative regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0033145	positive regulation of intracellular steroid hormone receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1902533	positive regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0060765	regulation of androgen receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0033143	regulation of intracellular steroid hormone receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0060766	negative regulation of androgen receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0060765	regulation of androgen receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0071707	immunoglobulin heavy chain V-D-J recombination	http://purl.obolibrary.org/obo/GO_0033152	immunoglobulin V(D)J recombination		
http://purl.obolibrary.org/obo/GO_0071708	immunoglobulin light chain V-J recombination	http://purl.obolibrary.org/obo/GO_0033152	immunoglobulin V(D)J recombination		
http://purl.obolibrary.org/obo/GO_0071305	cellular response to vitamin D	http://purl.obolibrary.org/obo/GO_0071295	cellular response to vitamin		
http://purl.obolibrary.org/obo/GO_0061512	protein localization to cilium	http://purl.obolibrary.org/obo/GO_0033365	protein localization to organelle		
http://purl.obolibrary.org/obo/GO_0042593	glucose homeostasis	http://purl.obolibrary.org/obo/GO_0033500	carbohydrate homeostasis		
http://purl.obolibrary.org/obo/GO_0071345	cellular response to cytokine stimulus	http://purl.obolibrary.org/obo/GO_0034097	response to cytokine		
http://purl.obolibrary.org/obo/GO_0046850	regulation of bone remodeling	http://purl.obolibrary.org/obo/GO_0034103	regulation of tissue remodeling		
http://purl.obolibrary.org/obo/GO_0046851	negative regulation of bone remodeling	http://purl.obolibrary.org/obo/GO_0046850	regulation of bone remodeling		
http://purl.obolibrary.org/obo/GO_0046852	positive regulation of bone remodeling	http://purl.obolibrary.org/obo/GO_0046850	regulation of bone remodeling		
http://purl.obolibrary.org/obo/GO_0034765	regulation of monoatomic ion transmembrane transport	http://purl.obolibrary.org/obo/GO_0043269	regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0022898	regulation of transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0065009	regulation of molecular function		
http://purl.obolibrary.org/obo/GO_0034764	positive regulation of transmembrane transport	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0010827	regulation of D-glucose transmembrane transport	http://purl.obolibrary.org/obo/GO_0034762	regulation of transmembrane transport		
http://purl.obolibrary.org/obo/GO_1904063	negative regulation of cation transmembrane transport	http://purl.obolibrary.org/obo/GO_1904062	regulation of monoatomic cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_1903960	negative regulation of anion transmembrane transport	http://purl.obolibrary.org/obo/GO_1903959	regulation of monoatomic anion transmembrane transport		
http://purl.obolibrary.org/obo/GO_1904064	positive regulation of cation transmembrane transport	http://purl.obolibrary.org/obo/GO_1904062	regulation of monoatomic cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_1903961	positive regulation of anion transmembrane transport	http://purl.obolibrary.org/obo/GO_1903959	regulation of monoatomic anion transmembrane transport		
http://purl.obolibrary.org/obo/GO_0042330	taxis	http://purl.obolibrary.org/obo/GO_0040011	locomotion		
http://purl.obolibrary.org/obo/GO_0031987	locomotion involved in locomotory behavior	http://purl.obolibrary.org/obo/GO_0040011	locomotion		
http://purl.obolibrary.org/obo/GO_0042613	MHC class II protein complex	http://purl.obolibrary.org/obo/GO_0042611	MHC protein complex		
http://purl.obolibrary.org/obo/GO_0030198	extracellular matrix organization	http://purl.obolibrary.org/obo/GO_0045229	external encapsulating structure organization		
http://purl.obolibrary.org/obo/GO_0043231	intracellular membrane-bounded organelle	http://purl.obolibrary.org/obo/GO_0043229	intracellular organelle		
http://purl.obolibrary.org/obo/GO_0065010	extracellular membrane-bounded organelle	http://purl.obolibrary.org/obo/GO_0043230	extracellular organelle		
http://purl.obolibrary.org/obo/GO_0031982	vesicle	http://purl.obolibrary.org/obo/GO_0043227	membrane-bounded organelle		
http://purl.obolibrary.org/obo/GO_0070013	intracellular organelle lumen	http://purl.obolibrary.org/obo/GO_0043233	organelle lumen		
http://purl.obolibrary.org/obo/GO_0032091	negative regulation of protein binding	http://purl.obolibrary.org/obo/GO_0051100	negative regulation of binding		
http://purl.obolibrary.org/obo/GO_0032092	positive regulation of protein binding	http://purl.obolibrary.org/obo/GO_0051099	positive regulation of binding		
http://purl.obolibrary.org/obo/GO_1900120	regulation of receptor binding	http://purl.obolibrary.org/obo/GO_0043393	regulation of protein binding		
http://purl.obolibrary.org/obo/GO_0032868	response to insulin	http://purl.obolibrary.org/obo/GO_0043434	response to peptide hormone		
http://purl.obolibrary.org/obo/GO_0071375	cellular response to peptide hormone stimulus	http://purl.obolibrary.org/obo/GO_0032870	cellular response to hormone stimulus		
http://purl.obolibrary.org/obo/GO_0033120	positive regulation of RNA splicing	http://purl.obolibrary.org/obo/GO_0010628	positive regulation of gene expression		
http://purl.obolibrary.org/obo/GO_1990497	regulation of cytoplasmic translation in response to stress	http://purl.obolibrary.org/obo/GO_2000765	regulation of cytoplasmic translation		
http://purl.obolibrary.org/obo/GO_0032056	positive regulation of translation in response to stress	http://purl.obolibrary.org/obo/GO_0045727	positive regulation of translation		
http://purl.obolibrary.org/obo/GO_0044060	regulation of endocrine process	http://purl.obolibrary.org/obo/GO_0044057	regulation of system process		
http://purl.obolibrary.org/obo/GO_0090257	regulation of muscle system process	http://purl.obolibrary.org/obo/GO_0044057	regulation of system process		
http://purl.obolibrary.org/obo/GO_1903522	regulation of blood circulation	http://purl.obolibrary.org/obo/GO_0044057	regulation of system process		
http://purl.obolibrary.org/obo/GO_0044065	regulation of respiratory system process	http://purl.obolibrary.org/obo/GO_0043576	regulation of respiratory gaseous exchange		
http://purl.obolibrary.org/obo/GO_0098801	regulation of renal system process	http://purl.obolibrary.org/obo/GO_0044057	regulation of system process		
http://purl.obolibrary.org/obo/GO_0031644	regulation of nervous system process	http://purl.obolibrary.org/obo/GO_0044057	regulation of system process		
http://purl.obolibrary.org/obo/GO_0044058	regulation of digestive system process	http://purl.obolibrary.org/obo/GO_0044057	regulation of system process		
http://purl.obolibrary.org/obo/GO_0043086	negative regulation of catalytic activity	http://purl.obolibrary.org/obo/GO_0050790	regulation of catalytic activity		
http://purl.obolibrary.org/obo/GO_0032410	negative regulation of transporter activity	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0032780	negative regulation of ATP-dependent activity	http://purl.obolibrary.org/obo/GO_0043462	regulation of ATP-dependent activity		
http://purl.obolibrary.org/obo/GO_0051100	negative regulation of binding	http://purl.obolibrary.org/obo/GO_0051098	regulation of binding		
http://purl.obolibrary.org/obo/GO_0043085	positive regulation of catalytic activity	http://purl.obolibrary.org/obo/GO_0050790	regulation of catalytic activity		
http://purl.obolibrary.org/obo/GO_0032781	positive regulation of ATP-dependent activity	http://purl.obolibrary.org/obo/GO_0043462	regulation of ATP-dependent activity		
http://purl.obolibrary.org/obo/GO_0032411	positive regulation of transporter activity	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0051099	positive regulation of binding	http://purl.obolibrary.org/obo/GO_0051098	regulation of binding		
http://purl.obolibrary.org/obo/GO_0005518	collagen binding	http://purl.obolibrary.org/obo/GO_0044877	protein-containing complex binding		
http://purl.obolibrary.org/obo/GO_0031594	neuromuscular junction	http://purl.obolibrary.org/obo/GO_0045202	synapse		
http://purl.obolibrary.org/obo/GO_0033081	regulation of T cell differentiation in thymus	http://purl.obolibrary.org/obo/GO_0045580	regulation of T cell differentiation		
http://purl.obolibrary.org/obo/GO_0045581	negative regulation of T cell differentiation	http://purl.obolibrary.org/obo/GO_0050868	negative regulation of T cell activation		
http://purl.obolibrary.org/obo/GO_0045582	positive regulation of T cell differentiation	http://purl.obolibrary.org/obo/GO_0050870	positive regulation of T cell activation		
http://purl.obolibrary.org/obo/GO_0045577	regulation of B cell differentiation	http://purl.obolibrary.org/obo/GO_0050864	regulation of B cell activation		
http://purl.obolibrary.org/obo/GO_0045580	regulation of T cell differentiation	http://purl.obolibrary.org/obo/GO_0050863	regulation of T cell activation		
http://purl.obolibrary.org/obo/GO_2000283	negative regulation of amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009890	negative regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_2000284	positive regulation of amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0009891	positive regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_0032057	negative regulation of translational initiation in response to stress	http://purl.obolibrary.org/obo/GO_0045947	negative regulation of translational initiation		
http://purl.obolibrary.org/obo/GO_1904689	negative regulation of cytoplasmic translational initiation	http://purl.obolibrary.org/obo/GO_1904688	regulation of cytoplasmic translational initiation		
http://purl.obolibrary.org/obo/GO_0070133	negative regulation of mitochondrial translational initiation	http://purl.obolibrary.org/obo/GO_0070132	regulation of mitochondrial translational initiation		
http://purl.obolibrary.org/obo/GO_0032058	positive regulation of translational initiation in response to stress	http://purl.obolibrary.org/obo/GO_0045948	positive regulation of translational initiation		
http://purl.obolibrary.org/obo/GO_1904690	positive regulation of cytoplasmic translational initiation	http://purl.obolibrary.org/obo/GO_1904688	regulation of cytoplasmic translational initiation		
http://purl.obolibrary.org/obo/GO_0070134	positive regulation of mitochondrial translational initiation	http://purl.obolibrary.org/obo/GO_0070132	regulation of mitochondrial translational initiation		
http://purl.obolibrary.org/obo/GO_1900543	negative regulation of purine nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_1900542	regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_1900544	positive regulation of purine nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_1900542	regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0046321	positive regulation of fatty acid oxidation	http://purl.obolibrary.org/obo/GO_0045923	positive regulation of fatty acid metabolic process		
http://purl.obolibrary.org/obo/GO_0046322	negative regulation of fatty acid oxidation	http://purl.obolibrary.org/obo/GO_0045922	negative regulation of fatty acid metabolic process		
http://purl.obolibrary.org/obo/GO_2000252	negative regulation of feeding behavior	http://purl.obolibrary.org/obo/GO_0060259	regulation of feeding behavior		
http://purl.obolibrary.org/obo/GO_0042321	negative regulation of circadian sleep/wake cycle, sleep	http://purl.obolibrary.org/obo/GO_0045187	regulation of circadian sleep/wake cycle, sleep		
http://purl.obolibrary.org/obo/GO_0090327	negative regulation of locomotion involved in locomotory behavior	http://purl.obolibrary.org/obo/GO_0090325	regulation of locomotion involved in locomotory behavior		
http://purl.obolibrary.org/obo/GO_0071383	cellular response to steroid hormone stimulus	http://purl.obolibrary.org/obo/GO_0032870	cellular response to hormone stimulus		
http://purl.obolibrary.org/obo/GO_0032024	positive regulation of insulin secretion	http://purl.obolibrary.org/obo/GO_0090277	positive regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_1902722	positive regulation of prolactin secretion	http://purl.obolibrary.org/obo/GO_0090277	positive regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0022603	regulation of anatomical structure morphogenesis	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0045682	regulation of epidermis development	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_2000383	regulation of ectoderm development	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_2000380	regulation of mesoderm development	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_1905902	regulation of mesoderm formation	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_1905939	regulation of gonad development	http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0048634	regulation of muscle organ development	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_1901861	regulation of muscle tissue development	http://purl.obolibrary.org/obo/GO_0050793	regulation of developmental process		
http://purl.obolibrary.org/obo/GO_0090325	regulation of locomotion involved in locomotory behavior	http://purl.obolibrary.org/obo/GO_0040012	regulation of locomotion		
http://purl.obolibrary.org/obo/GO_0042749	regulation of circadian sleep/wake cycle	http://purl.obolibrary.org/obo/GO_0042752	regulation of circadian rhythm		
http://purl.obolibrary.org/obo/GO_0060259	regulation of feeding behavior	http://purl.obolibrary.org/obo/GO_0050795	regulation of behavior		
http://purl.obolibrary.org/obo/GO_0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	http://purl.obolibrary.org/obo/GO_0060341	regulation of cellular localization		
http://purl.obolibrary.org/obo/GO_0032228	regulation of synaptic transmission, GABAergic	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0099550	trans-synaptic signaling, modulating synaptic transmission	http://purl.obolibrary.org/obo/GO_0099537	trans-synaptic signaling		
http://purl.obolibrary.org/obo/GO_1900073	regulation of neuromuscular synaptic transmission	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0099170	postsynaptic modulation of chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0099171	presynaptic modulation of chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0032222	regulation of synaptic transmission, cholinergic	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_0051966	regulation of synaptic transmission, glutamatergic	http://purl.obolibrary.org/obo/GO_0050804	modulation of chemical synaptic transmission		
http://purl.obolibrary.org/obo/GO_1900074	negative regulation of neuromuscular synaptic transmission	http://purl.obolibrary.org/obo/GO_1900073	regulation of neuromuscular synaptic transmission		
http://purl.obolibrary.org/obo/GO_0032223	negative regulation of synaptic transmission, cholinergic	http://purl.obolibrary.org/obo/GO_0032222	regulation of synaptic transmission, cholinergic		
http://purl.obolibrary.org/obo/GO_0051967	negative regulation of synaptic transmission, glutamatergic	http://purl.obolibrary.org/obo/GO_0051966	regulation of synaptic transmission, glutamatergic		
http://purl.obolibrary.org/obo/GO_0030195	negative regulation of blood coagulation	http://purl.obolibrary.org/obo/GO_0030193	regulation of blood coagulation		
http://purl.obolibrary.org/obo/GO_0030194	positive regulation of blood coagulation	http://purl.obolibrary.org/obo/GO_0030193	regulation of blood coagulation		
http://purl.obolibrary.org/obo/GO_0050869	negative regulation of B cell activation	http://purl.obolibrary.org/obo/GO_0051250	negative regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_0050871	positive regulation of B cell activation	http://purl.obolibrary.org/obo/GO_0051251	positive regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_1901860	positive regulation of mitochondrial DNA metabolic process	http://purl.obolibrary.org/obo/GO_0010821	regulation of mitochondrion organization		
http://purl.obolibrary.org/obo/GO_0043388	positive regulation of DNA binding	http://purl.obolibrary.org/obo/GO_0051101	regulation of DNA binding		
http://purl.obolibrary.org/obo/GO_1905216	positive regulation of RNA binding	http://purl.obolibrary.org/obo/GO_0051099	positive regulation of binding		
http://purl.obolibrary.org/obo/GO_0043392	negative regulation of DNA binding	http://purl.obolibrary.org/obo/GO_0051101	regulation of DNA binding		
http://purl.obolibrary.org/obo/GO_1900131	negative regulation of lipid binding	http://purl.obolibrary.org/obo/GO_0051100	negative regulation of binding		
http://purl.obolibrary.org/obo/GO_0033036	macromolecule localization	http://purl.obolibrary.org/obo/GO_0051179	localization		
http://purl.obolibrary.org/obo/GO_0051234	establishment of localization	http://purl.obolibrary.org/obo/GO_0051179	localization		
http://purl.obolibrary.org/obo/GO_0051235	maintenance of location	http://purl.obolibrary.org/obo/GO_0051179	localization		
http://purl.obolibrary.org/obo/GO_0051640	organelle localization	http://purl.obolibrary.org/obo/GO_0051179	localization		
http://purl.obolibrary.org/obo/GO_0031399	regulation of protein modification process	http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0030162	regulation of proteolysis	http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0050746	regulation of lipoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_1903018	regulation of glycoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0051246	regulation of protein metabolic process		
http://purl.obolibrary.org/obo/GO_0050747	positive regulation of lipoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0009891	positive regulation of biosynthetic process		
http://purl.obolibrary.org/obo/GO_1903020	positive regulation of glycoprotein metabolic process	http://purl.obolibrary.org/obo/GO_1903018	regulation of glycoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_1903319	positive regulation of protein maturation	http://purl.obolibrary.org/obo/GO_1903317	regulation of protein maturation		
http://purl.obolibrary.org/obo/GO_0050748	negative regulation of lipoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0050746	regulation of lipoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_1903019	negative regulation of glycoprotein metabolic process	http://purl.obolibrary.org/obo/GO_1903018	regulation of glycoprotein metabolic process		
http://purl.obolibrary.org/obo/GO_0050864	regulation of B cell activation	http://purl.obolibrary.org/obo/GO_0051249	regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_0050863	regulation of T cell activation	http://purl.obolibrary.org/obo/GO_0051249	regulation of lymphocyte activation		
http://purl.obolibrary.org/obo/GO_0050767	regulation of neurogenesis	http://purl.obolibrary.org/obo/GO_0060284	regulation of cell development		
http://purl.obolibrary.org/obo/GO_0050768	negative regulation of neurogenesis	http://purl.obolibrary.org/obo/GO_0050767	regulation of neurogenesis		
http://purl.obolibrary.org/obo/GO_0050769	positive regulation of neurogenesis	http://purl.obolibrary.org/obo/GO_0050767	regulation of neurogenesis		
http://purl.obolibrary.org/obo/GO_0051984	positive regulation of chromosome segregation	http://purl.obolibrary.org/obo/GO_0090068	positive regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_0051985	negative regulation of chromosome segregation	http://purl.obolibrary.org/obo/GO_0010948	negative regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_0055070	copper ion homeostasis	http://purl.obolibrary.org/obo/GO_0098771	inorganic ion homeostasis		
http://purl.obolibrary.org/obo/GO_0055074	calcium ion homeostasis	http://purl.obolibrary.org/obo/GO_0098771	inorganic ion homeostasis		
http://purl.obolibrary.org/obo/GO_0055078	sodium ion homeostasis	http://purl.obolibrary.org/obo/GO_0098771	inorganic ion homeostasis		
http://purl.obolibrary.org/obo/GO_0010960	magnesium ion homeostasis	http://purl.obolibrary.org/obo/GO_0098771	inorganic ion homeostasis		
http://purl.obolibrary.org/obo/GO_0060590	ATPase regulator activity	http://purl.obolibrary.org/obo/GO_0060589	nucleoside-triphosphatase regulator activity		
http://purl.obolibrary.org/obo/GO_0032274	gonadotropin secretion	http://purl.obolibrary.org/obo/GO_0060986	endocrine hormone secretion		
http://purl.obolibrary.org/obo/GO_0035898	parathyroid hormone secretion	http://purl.obolibrary.org/obo/GO_0060986	endocrine hormone secretion		
http://purl.obolibrary.org/obo/GO_0035929	steroid hormone secretion	http://purl.obolibrary.org/obo/GO_0140353	lipid export from cell		
http://purl.obolibrary.org/obo/GO_1903561	extracellular vesicle	http://purl.obolibrary.org/obo/GO_0031982	vesicle		
http://purl.obolibrary.org/obo/GO_0035150	regulation of tube size	http://purl.obolibrary.org/obo/GO_0090066	regulation of anatomical structure size		
http://purl.obolibrary.org/obo/GO_0090274	positive regulation of somatostatin secretion	http://purl.obolibrary.org/obo/GO_0090273	regulation of somatostatin secretion		
http://purl.obolibrary.org/obo/GO_0060124	positive regulation of growth hormone secretion	http://purl.obolibrary.org/obo/GO_0060123	regulation of growth hormone secretion		
http://purl.obolibrary.org/obo/GO_0070094	positive regulation of glucagon secretion	http://purl.obolibrary.org/obo/GO_0070092	regulation of glucagon secretion		
http://purl.obolibrary.org/obo/GO_0045211	postsynaptic membrane	http://purl.obolibrary.org/obo/GO_0097060	synaptic membrane		
http://purl.obolibrary.org/obo/GO_0031410	cytoplasmic vesicle	http://purl.obolibrary.org/obo/GO_0097708	intracellular vesicle		
http://purl.obolibrary.org/obo/GO_0030317	flagellated sperm motility	http://purl.obolibrary.org/obo/GO_0060294	cilium movement involved in cell motility		
http://purl.obolibrary.org/obo/GO_0030141	secretory granule	http://purl.obolibrary.org/obo/GO_0099503	secretory vesicle		
http://purl.obolibrary.org/obo/GO_1903578	regulation of ATP metabolic process	http://purl.obolibrary.org/obo/GO_1900542	regulation of purine nucleotide metabolic process		
http://purl.obolibrary.org/obo/GO_0046504	glycerol ether biosynthetic process	http://purl.obolibrary.org/obo/GO_1901503	ether biosynthetic process		
http://purl.obolibrary.org/obo/GO_0034097	response to cytokine	http://purl.obolibrary.org/obo/GO_1901652	response to peptide		
http://purl.obolibrary.org/obo/GO_0097028	dendritic cell differentiation	http://purl.obolibrary.org/obo/GO_1903131	mononuclear cell differentiation		
http://purl.obolibrary.org/obo/GO_1903315	negative regulation of nitrogen cycle metabolic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_1903316	positive regulation of nitrogen cycle metabolic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_2001226	negative regulation of chloride transport	http://purl.obolibrary.org/obo/GO_2001225	regulation of chloride transport		
http://purl.obolibrary.org/obo/GO_0030334	regulation of cell migration	http://purl.obolibrary.org/obo/GO_2000145	regulation of cell motility		
http://purl.obolibrary.org/obo/GO_2000147	positive regulation of cell motility	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_1902019	regulation of cilium-dependent cell motility	http://purl.obolibrary.org/obo/GO_2000145	regulation of cell motility		
http://purl.obolibrary.org/obo/GO_1902020	negative regulation of cilium-dependent cell motility	http://purl.obolibrary.org/obo/GO_1902019	regulation of cilium-dependent cell motility		
http://purl.obolibrary.org/obo/GO_2000155	positive regulation of cilium-dependent cell motility	http://purl.obolibrary.org/obo/GO_1902019	regulation of cilium-dependent cell motility		
http://purl.obolibrary.org/obo/GO_1902340	negative regulation of chromosome condensation	http://purl.obolibrary.org/obo/GO_0060623	regulation of chromosome condensation		
http://purl.obolibrary.org/obo/GO_1905821	positive regulation of chromosome condensation	http://purl.obolibrary.org/obo/GO_0060623	regulation of chromosome condensation		
http://purl.obolibrary.org/obo/GO_0034757	negative regulation of iron ion transport	http://purl.obolibrary.org/obo/GO_0043271	negative regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0034758	positive regulation of iron ion transport	http://purl.obolibrary.org/obo/GO_0043270	positive regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0034759	regulation of iron ion transmembrane transport	http://purl.obolibrary.org/obo/GO_1904062	regulation of monoatomic cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0034760	negative regulation of iron ion transmembrane transport	http://purl.obolibrary.org/obo/GO_1904063	negative regulation of cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0034761	positive regulation of iron ion transmembrane transport	http://purl.obolibrary.org/obo/GO_1904064	positive regulation of cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0010829	negative regulation of D-glucose transmembrane transport	http://purl.obolibrary.org/obo/GO_0010827	regulation of D-glucose transmembrane transport		
http://purl.obolibrary.org/obo/GO_0010828	positive regulation of D-glucose transmembrane transport	http://purl.obolibrary.org/obo/GO_0010827	regulation of D-glucose transmembrane transport		
http://purl.obolibrary.org/obo/GO_0060606	tube closure	http://purl.obolibrary.org/obo/GO_0035148	tube formation		
http://purl.obolibrary.org/obo/GO_0072175	epithelial tube formation	http://purl.obolibrary.org/obo/GO_0035148	tube formation		
http://purl.obolibrary.org/obo/GO_0035296	regulation of tube diameter	http://purl.obolibrary.org/obo/GO_0035150	regulation of tube size		
http://purl.obolibrary.org/obo/GO_0035930	corticosteroid hormone secretion	http://purl.obolibrary.org/obo/GO_0035929	steroid hormone secretion		
http://purl.obolibrary.org/obo/GO_0035935	androgen secretion	http://purl.obolibrary.org/obo/GO_0035929	steroid hormone secretion		
http://purl.obolibrary.org/obo/GO_0035931	mineralocorticoid secretion	http://purl.obolibrary.org/obo/GO_0035930	corticosteroid hormone secretion		
http://purl.obolibrary.org/obo/GO_0035933	glucocorticoid secretion	http://purl.obolibrary.org/obo/GO_0035930	corticosteroid hormone secretion		
http://purl.obolibrary.org/obo/GO_0090326	positive regulation of locomotion involved in locomotory behavior	http://purl.obolibrary.org/obo/GO_0048520	positive regulation of behavior		
http://purl.obolibrary.org/obo/GO_2000543	positive regulation of gastrulation	http://purl.obolibrary.org/obo/GO_0010470	regulation of gastrulation		
http://purl.obolibrary.org/obo/GO_0035735	intraciliary transport involved in cilium assembly	http://purl.obolibrary.org/obo/GO_0042073	intraciliary transport		
http://purl.obolibrary.org/obo/GO_0042105	alpha-beta T cell receptor complex	http://purl.obolibrary.org/obo/GO_0042101	T cell receptor complex		
http://purl.obolibrary.org/obo/GO_0045717	negative regulation of fatty acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0051055	negative regulation of lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045723	positive regulation of fatty acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046889	positive regulation of lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0042322	negative regulation of circadian sleep/wake cycle, REM sleep	http://purl.obolibrary.org/obo/GO_0042321	negative regulation of circadian sleep/wake cycle, sleep		
http://purl.obolibrary.org/obo/GO_0070640	vitamin D3 metabolic process	http://purl.obolibrary.org/obo/GO_1902652	secondary alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_0042475	odontogenesis of dentin-containing tooth	http://purl.obolibrary.org/obo/GO_0042476	odontogenesis		
http://purl.obolibrary.org/obo/GO_0042487	regulation of odontogenesis of dentin-containing tooth	http://purl.obolibrary.org/obo/GO_0042481	regulation of odontogenesis		
http://purl.obolibrary.org/obo/GO_0042488	positive regulation of odontogenesis of dentin-containing tooth	http://purl.obolibrary.org/obo/GO_0042487	regulation of odontogenesis of dentin-containing tooth		
http://purl.obolibrary.org/obo/GO_0042489	negative regulation of odontogenesis of dentin-containing tooth	http://purl.obolibrary.org/obo/GO_0042487	regulation of odontogenesis of dentin-containing tooth		
http://purl.obolibrary.org/obo/GO_0071754	IgM immunoglobulin complex, circulating	http://purl.obolibrary.org/obo/GO_0071753	IgM immunoglobulin complex		
http://purl.obolibrary.org/obo/GO_0097208	alveolar lamellar body	http://purl.obolibrary.org/obo/GO_0042599	lamellar body		
http://purl.obolibrary.org/obo/GO_0051146	striated muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0042692	muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_0043124	negative regulation of canonical NF-kappaB signal transduction	http://purl.obolibrary.org/obo/GO_1902532	negative regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0043123	positive regulation of canonical NF-kappaB signal transduction	http://purl.obolibrary.org/obo/GO_1902533	positive regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0043168	anion binding	http://purl.obolibrary.org/obo/GO_0043167	ion binding		
http://purl.obolibrary.org/obo/GO_0043232	intracellular membraneless organelle	http://purl.obolibrary.org/obo/GO_0043228	membraneless organelle		
http://purl.obolibrary.org/obo/GO_0043264	extracellular membraneless organelle	http://purl.obolibrary.org/obo/GO_0043228	membraneless organelle		
http://purl.obolibrary.org/obo/GO_2000679	positive regulation of transcription regulatory region DNA binding	http://purl.obolibrary.org/obo/GO_2000677	regulation of transcription regulatory region DNA binding		
http://purl.obolibrary.org/obo/GO_2000678	negative regulation of transcription regulatory region DNA binding	http://purl.obolibrary.org/obo/GO_2000677	regulation of transcription regulatory region DNA binding		
http://purl.obolibrary.org/obo/GO_1903715	regulation of aerobic respiration	http://purl.obolibrary.org/obo/GO_0043457	regulation of cellular respiration		
http://purl.obolibrary.org/obo/GO_1901856	negative regulation of cellular respiration	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_1901857	positive regulation of cellular respiration	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_1904478	regulation of intestinal absorption	http://purl.obolibrary.org/obo/GO_0044058	regulation of digestive system process		
http://purl.obolibrary.org/obo/GO_2000292	regulation of defecation	http://purl.obolibrary.org/obo/GO_0044062	regulation of excretion		
http://purl.obolibrary.org/obo/GO_0044293	dendriole	http://purl.obolibrary.org/obo/GO_0044292	dendrite terminus		
http://purl.obolibrary.org/obo/GO_0043025	neuronal cell body	http://purl.obolibrary.org/obo/GO_0044297	cell body		
http://purl.obolibrary.org/obo/GO_0042640	anagen	http://purl.obolibrary.org/obo/GO_0044851	hair cycle phase		
http://purl.obolibrary.org/obo/GO_0043368	positive T cell selection	http://purl.obolibrary.org/obo/GO_0045058	T cell selection		
http://purl.obolibrary.org/obo/GO_0045061	thymic T cell selection	http://purl.obolibrary.org/obo/GO_0045058	T cell selection		
http://purl.obolibrary.org/obo/GO_0044853	plasma membrane raft	http://purl.obolibrary.org/obo/GO_0098590	plasma membrane region		
http://purl.obolibrary.org/obo/GO_0045779	negative regulation of bone resorption	http://purl.obolibrary.org/obo/GO_0046851	negative regulation of bone remodeling		
http://purl.obolibrary.org/obo/GO_0046543	development of secondary female sexual characteristics	http://purl.obolibrary.org/obo/GO_0045136	development of secondary sexual characteristics		
http://purl.obolibrary.org/obo/GO_0045938	positive regulation of circadian sleep/wake cycle, sleep	http://purl.obolibrary.org/obo/GO_0048520	positive regulation of behavior		
http://purl.obolibrary.org/obo/GO_0042320	regulation of circadian sleep/wake cycle, REM sleep	http://purl.obolibrary.org/obo/GO_0045187	regulation of circadian sleep/wake cycle, sleep		
http://purl.obolibrary.org/obo/GO_0045541	negative regulation of cholesterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0106119	negative regulation of sterol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045542	positive regulation of cholesterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0106120	positive regulation of sterol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045600	positive regulation of fat cell differentiation	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0045616	regulation of keratinocyte differentiation	http://purl.obolibrary.org/obo/GO_0045604	regulation of epidermal cell differentiation		
http://purl.obolibrary.org/obo/GO_0045669	positive regulation of osteoblast differentiation	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0045702	positive regulation of spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_2000243	positive regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0051446	positive regulation of meiotic cell cycle	http://purl.obolibrary.org/obo/GO_2000243	positive regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0035306	positive regulation of dephosphorylation	http://purl.obolibrary.org/obo/GO_0035303	regulation of dephosphorylation		
http://purl.obolibrary.org/obo/GO_0045124	regulation of bone resorption	http://purl.obolibrary.org/obo/GO_0046850	regulation of bone remodeling		
http://purl.obolibrary.org/obo/GO_0005125	cytokine activity	http://purl.obolibrary.org/obo/GO_0048018	receptor ligand activity		
http://purl.obolibrary.org/obo/GO_0005179	hormone activity	http://purl.obolibrary.org/obo/GO_0048018	receptor ligand activity		
http://purl.obolibrary.org/obo/GO_0097712	vesicle targeting, trans-Golgi to periciliary membrane compartment	http://purl.obolibrary.org/obo/GO_0048199	vesicle targeting, to, from or within Golgi		
http://purl.obolibrary.org/obo/GO_0042470	melanosome	http://purl.obolibrary.org/obo/GO_0048770	pigment granule		
http://purl.obolibrary.org/obo/GO_0070977	bone maturation	http://purl.obolibrary.org/obo/GO_0048799	animal organ maturation		
http://purl.obolibrary.org/obo/GO_0061626	pharyngeal arch artery morphogenesis	http://purl.obolibrary.org/obo/GO_0048844	artery morphogenesis		
http://purl.obolibrary.org/obo/GO_0051057	positive regulation of small GTPase mediated signal transduction	http://purl.obolibrary.org/obo/GO_1902533	positive regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0051058	negative regulation of small GTPase mediated signal transduction	http://purl.obolibrary.org/obo/GO_1902532	negative regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0046578	regulation of Ras protein signal transduction	http://purl.obolibrary.org/obo/GO_0051056	regulation of small GTPase mediated signal transduction		
http://purl.obolibrary.org/obo/GO_0043393	regulation of protein binding	http://purl.obolibrary.org/obo/GO_0051098	regulation of binding		
http://purl.obolibrary.org/obo/GO_0051101	regulation of DNA binding	http://purl.obolibrary.org/obo/GO_0051098	regulation of binding		
http://purl.obolibrary.org/obo/GO_2000677	regulation of transcription regulatory region DNA binding	http://purl.obolibrary.org/obo/GO_0051101	regulation of DNA binding		
http://purl.obolibrary.org/obo/GO_0051149	positive regulation of muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0051153	regulation of striated muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051147	regulation of muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_0051154	negative regulation of striated muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051153	regulation of striated muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_0051155	positive regulation of striated muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051153	regulation of striated muscle cell differentiation		
http://purl.obolibrary.org/obo/GO_1903302	regulation of pyruvate kinase activity	http://purl.obolibrary.org/obo/GO_0051338	regulation of transferase activity		
http://purl.obolibrary.org/obo/GO_0042632	cholesterol homeostasis	http://purl.obolibrary.org/obo/GO_0055092	sterol homeostasis		
http://purl.obolibrary.org/obo/GO_0044458	motile cilium assembly	http://purl.obolibrary.org/obo/GO_0060271	cilium assembly		
http://purl.obolibrary.org/obo/GO_0061063	positive regulation of nematode larval development	http://purl.obolibrary.org/obo/GO_0048582	positive regulation of post-embryonic development		
http://purl.obolibrary.org/obo/GO_0061064	negative regulation of nematode larval development	http://purl.obolibrary.org/obo/GO_0048581	negative regulation of post-embryonic development		
http://purl.obolibrary.org/obo/GO_0060467	negative regulation of fertilization	http://purl.obolibrary.org/obo/GO_2000242	negative regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_1905516	positive regulation of fertilization	http://purl.obolibrary.org/obo/GO_2000243	positive regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_0045540	regulation of cholesterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0106118	regulation of sterol biosynthetic process		
http://purl.obolibrary.org/obo/GO_1904362	regulation of calcitonin secretion	http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0090273	regulation of somatostatin secretion	http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0060123	regulation of growth hormone secretion	http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0070092	regulation of glucagon secretion	http://purl.obolibrary.org/obo/GO_0090276	regulation of peptide hormone secretion		
http://purl.obolibrary.org/obo/GO_0001755	neural crest cell migration	http://purl.obolibrary.org/obo/GO_0090497	mesenchymal cell migration		
http://purl.obolibrary.org/obo/GO_0048592	eye morphogenesis	http://purl.obolibrary.org/obo/GO_0090596	sensory organ morphogenesis		
http://purl.obolibrary.org/obo/GO_0098975	postsynapse of neuromuscular junction	http://purl.obolibrary.org/obo/GO_0098794	postsynapse		
http://purl.obolibrary.org/obo/GO_0045275	respiratory chain complex III	http://purl.obolibrary.org/obo/GO_1902495	transmembrane transporter complex		
http://purl.obolibrary.org/obo/GO_0045121	membrane raft	http://purl.obolibrary.org/obo/GO_0098857	membrane microdomain		
http://purl.obolibrary.org/obo/GO_0071322	cellular response to carbohydrate stimulus	http://purl.obolibrary.org/obo/GO_0009743	response to carbohydrate		
http://purl.obolibrary.org/obo/GO_1905503	regulation of motile cilium assembly	http://purl.obolibrary.org/obo/GO_1902017	regulation of cilium assembly		
http://purl.obolibrary.org/obo/GO_0045724	positive regulation of cilium assembly	http://purl.obolibrary.org/obo/GO_0120034	positive regulation of plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_1902018	negative regulation of cilium assembly	http://purl.obolibrary.org/obo/GO_0120033	negative regulation of plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_0045637	regulation of myeloid cell differentiation	http://purl.obolibrary.org/obo/GO_1903706	regulation of hemopoiesis		
http://purl.obolibrary.org/obo/GO_1902105	regulation of leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1903706	regulation of hemopoiesis		
http://purl.obolibrary.org/obo/GO_0071073	positive regulation of phospholipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0071071	regulation of phospholipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045766	positive regulation of angiogenesis	http://purl.obolibrary.org/obo/GO_0045765	regulation of angiogenesis		
http://purl.obolibrary.org/obo/GO_0090023	positive regulation of neutrophil chemotaxis	http://purl.obolibrary.org/obo/GO_0071624	positive regulation of granulocyte chemotaxis		
http://purl.obolibrary.org/obo/GO_0090024	negative regulation of neutrophil chemotaxis	http://purl.obolibrary.org/obo/GO_0071623	negative regulation of granulocyte chemotaxis		
http://purl.obolibrary.org/obo/GO_0090154	positive regulation of sphingolipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046889	positive regulation of lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0090155	negative regulation of sphingolipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0051055	negative regulation of lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0098535	de novo centriole assembly involved in multi-ciliated epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0097742	de novo centriole assembly		
http://purl.obolibrary.org/obo/GO_0098632	cell-cell adhesion mediator activity	http://purl.obolibrary.org/obo/GO_0098631	cell adhesion mediator activity		
http://purl.obolibrary.org/obo/GO_0098643	fibrillar collagen complex	http://purl.obolibrary.org/obo/GO_0098644	complex of collagen trimers		
http://purl.obolibrary.org/obo/GO_0098645	complex of network-forming collagens	http://purl.obolibrary.org/obo/GO_0098644	complex of collagen trimers		
http://purl.obolibrary.org/obo/GO_0140153	FACIT collagen complex	http://purl.obolibrary.org/obo/GO_0098644	complex of collagen trimers		
http://purl.obolibrary.org/obo/GO_0140271	hexose import across plasma membrane	http://purl.obolibrary.org/obo/GO_0008645	hexose transmembrane transport		
http://purl.obolibrary.org/obo/GO_0044381	glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0098708	D-glucose import across plasma membrane		
http://purl.obolibrary.org/obo/GO_0098704	carbohydrate import across plasma membrane	http://purl.obolibrary.org/obo/GO_0034219	carbohydrate transmembrane transport		
http://purl.obolibrary.org/obo/GO_0099512	supramolecular fiber	http://purl.obolibrary.org/obo/GO_0099081	supramolecular polymer		
http://purl.obolibrary.org/obo/GO_0099537	trans-synaptic signaling	http://purl.obolibrary.org/obo/GO_0099536	synaptic signaling		
http://purl.obolibrary.org/obo/GO_0098916	anterograde trans-synaptic signaling	http://purl.obolibrary.org/obo/GO_0099537	trans-synaptic signaling		
http://purl.obolibrary.org/obo/GO_0099577	regulation of translation at presynapse, modulating synaptic transmission	http://purl.obolibrary.org/obo/GO_0140244	regulation of translation at presynapse		
http://purl.obolibrary.org/obo/GO_1900005	positive regulation of serine-type endopeptidase activity	http://purl.obolibrary.org/obo/GO_0010950	positive regulation of endopeptidase activity		
http://purl.obolibrary.org/obo/GO_1900119	positive regulation of execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_0043065	positive regulation of apoptotic process		
http://purl.obolibrary.org/obo/GO_0106064	regulation of cobalamin metabolic process	http://purl.obolibrary.org/obo/GO_1901401	regulation of tetrapyrrole metabolic process		
http://purl.obolibrary.org/obo/GO_0090022	regulation of neutrophil chemotaxis	http://purl.obolibrary.org/obo/GO_0071622	regulation of granulocyte chemotaxis		
http://purl.obolibrary.org/obo/GO_1903566	positive regulation of protein localization to cilium	http://purl.obolibrary.org/obo/GO_1903564	regulation of protein localization to cilium		
http://purl.obolibrary.org/obo/GO_1990611	regulation of cytoplasmic translational initiation in response to stress	http://purl.obolibrary.org/obo/GO_0043558	regulation of translational initiation in response to stress		
http://purl.obolibrary.org/obo/GO_1905903	negative regulation of mesoderm formation	http://purl.obolibrary.org/obo/GO_1905902	regulation of mesoderm formation		
http://purl.obolibrary.org/obo/GO_1905904	positive regulation of mesoderm formation	http://purl.obolibrary.org/obo/GO_1905902	regulation of mesoderm formation		
http://purl.obolibrary.org/obo/GO_2000767	positive regulation of cytoplasmic translation	http://purl.obolibrary.org/obo/GO_0045727	positive regulation of translation		
http://purl.obolibrary.org/obo/GO_1901534	positive regulation of hematopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_1902098	calcitriol binding	http://purl.obolibrary.org/obo/GO_1902271	D3 vitamins binding		
http://purl.obolibrary.org/obo/GO_1905213	negative regulation of mitotic chromosome condensation	http://purl.obolibrary.org/obo/GO_0010948	negative regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_1903026	negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_2000678	negative regulation of transcription regulatory region DNA binding		
http://purl.obolibrary.org/obo/GO_1903295	negative regulation of glutamate secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0051967	negative regulation of synaptic transmission, glutamatergic		
http://purl.obolibrary.org/obo/GO_1903380	positive regulation of mitotic chromosome condensation	http://purl.obolibrary.org/obo/GO_0090068	positive regulation of cell cycle process		
http://purl.obolibrary.org/obo/GO_1903552	negative regulation of extracellular exosome assembly	http://purl.obolibrary.org/obo/GO_1902116	negative regulation of organelle assembly		
http://purl.obolibrary.org/obo/GO_1903553	positive regulation of extracellular exosome assembly	http://purl.obolibrary.org/obo/GO_1902117	positive regulation of organelle assembly		
http://purl.obolibrary.org/obo/GO_1903565	negative regulation of protein localization to cilium	http://purl.obolibrary.org/obo/GO_1903828	negative regulation of protein localization		
http://purl.obolibrary.org/obo/GO_1903025	regulation of RNA polymerase II regulatory region sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_2000677	regulation of transcription regulatory region DNA binding		
http://purl.obolibrary.org/obo/GO_1905707	negative regulation of mitochondrial ATP synthesis coupled proton transport	http://purl.obolibrary.org/obo/GO_2001170	negative regulation of ATP biosynthetic process		
http://purl.obolibrary.org/obo/GO_2000195	negative regulation of female gonad development	http://purl.obolibrary.org/obo/GO_2000194	regulation of female gonad development		
http://purl.obolibrary.org/obo/GO_2000196	positive regulation of female gonad development	http://purl.obolibrary.org/obo/GO_2000194	regulation of female gonad development		
http://purl.obolibrary.org/obo/GO_2000083	negative regulation of L-ascorbic acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046137	negative regulation of vitamin metabolic process		
http://purl.obolibrary.org/obo/GO_2000849	regulation of glucocorticoid secretion	http://purl.obolibrary.org/obo/GO_2000846	regulation of corticosteroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2000855	regulation of mineralocorticoid secretion	http://purl.obolibrary.org/obo/GO_2000846	regulation of corticosteroid hormone secretion		
http://purl.obolibrary.org/obo/GO_2000856	negative regulation of mineralocorticoid secretion	http://purl.obolibrary.org/obo/GO_2000855	regulation of mineralocorticoid secretion		
http://purl.obolibrary.org/obo/GO_2000857	positive regulation of mineralocorticoid secretion	http://purl.obolibrary.org/obo/GO_2000855	regulation of mineralocorticoid secretion		
http://purl.obolibrary.org/obo/GO_2000858	regulation of aldosterone secretion	http://purl.obolibrary.org/obo/GO_2000855	regulation of mineralocorticoid secretion		
http://purl.obolibrary.org/obo/GO_1905706	regulation of mitochondrial ATP synthesis coupled proton transport	http://purl.obolibrary.org/obo/GO_2001169	regulation of ATP biosynthetic process		
http://purl.obolibrary.org/obo/GO_2001214	positive regulation of vasculogenesis	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/NCBITaxon_652611	Pseudomonas aeruginosa PA14	http://purl.obolibrary.org/obo/NCBITaxon_287	Pseudomonas aeruginosa		
http://purl.obolibrary.org/obo/ENVO_00000002	anthropogenic geographic feature	http://purl.obolibrary.org/obo/ENVO_00000000	geographic feature		
http://purl.obolibrary.org/obo/ENVO_00000012	hydrographic feature	http://purl.obolibrary.org/obo/RO_0002577	system		
http://purl.obolibrary.org/obo/ENVO_00000019	saline lake	http://purl.obolibrary.org/obo/ENVO_01001319	saline water body		
http://purl.obolibrary.org/obo/ENVO_01000888	area of gramanoid or herbaceous vegetation	http://purl.obolibrary.org/obo/ENVO_00000106	grassland area		
http://purl.obolibrary.org/obo/ENVO_00000344	grain of desert sand	http://purl.obolibrary.org/obo/ENVO_00000340	particle of sand		
http://purl.obolibrary.org/obo/ENVO_01000646	lithosphere	http://purl.obolibrary.org/obo/ENVO_01001275	solid layer		
http://purl.obolibrary.org/obo/ENVO_03000015	geographic basin	http://purl.obolibrary.org/obo/ENVO_00000309	depressed landform		
http://purl.obolibrary.org/obo/ENVO_00002013	igneous rock	http://purl.obolibrary.org/obo/ENVO_00001995	rock		
http://purl.obolibrary.org/obo/ENVO_00002016	sedimentary rock	http://purl.obolibrary.org/obo/ENVO_00001995	rock		
http://purl.obolibrary.org/obo/ENVO_00002017	metamorphic rock	http://purl.obolibrary.org/obo/ENVO_00001995	rock		
http://purl.obolibrary.org/obo/ENVO_00002186	contaminated water	http://purl.obolibrary.org/obo/ENVO_00002006	liquid water		
http://purl.obolibrary.org/obo/ENVO_00002872	bagasse	http://purl.obolibrary.org/obo/ENVO_00002264	waste material		
http://purl.obolibrary.org/obo/ENVO_0010003	agricultural environmental material	http://purl.obolibrary.org/obo/ENVO_0010001	anthropogenic environmental material		
http://purl.obolibrary.org/obo/ENVO_00003030	silage	http://purl.obolibrary.org/obo/ENVO_0010003	agricultural environmental material		
http://purl.obolibrary.org/obo/ENVO_01000320	marine environment	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/ENVO_01000951	natural environment	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		
http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem	http://purl.obolibrary.org/obo/ENVO_01000254	environmental system		
http://purl.obolibrary.org/obo/ENVO_01000268	atmospheric water vapour	http://purl.obolibrary.org/obo/ENVO_01000266	water vapour		
http://purl.obolibrary.org/obo/ENVO_01000295	marine layer	http://purl.obolibrary.org/obo/ENVO_01001308	hydroform		
http://purl.obolibrary.org/obo/ENVO_00000020	lake	http://purl.obolibrary.org/obo/ENVO_01000617	lentic water body		
http://purl.obolibrary.org/obo/ENVO_01000624	hydrological condensation process	http://purl.obolibrary.org/obo/ENVO_02500031	hydrological process		
http://purl.obolibrary.org/obo/ENVO_00002005	air	http://purl.obolibrary.org/obo/ENVO_01000797	gaseous environmental material		
http://purl.obolibrary.org/obo/ENVO_01000266	water vapour	http://purl.obolibrary.org/obo/ENVO_01000797	gaseous environmental material		
http://purl.obolibrary.org/obo/ENVO_01000800	planet	http://purl.obolibrary.org/obo/ENVO_01000799	astronomical body		
http://purl.obolibrary.org/obo/ENVO_01001068	meteoroid	http://purl.obolibrary.org/obo/ENVO_01000799	astronomical body		
http://purl.obolibrary.org/obo/ENVO_01001479	fluid astronomical body part	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/ENVO_01001787	aquatic ecosystem	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		
http://purl.obolibrary.org/obo/ENVO_00000428	biome	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		
http://purl.obolibrary.org/obo/ENVO_01000276	ecoregion	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		
http://purl.obolibrary.org/obo/ENVO_01000280	ecozone	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		
http://purl.obolibrary.org/obo/ENVO_01000739	habitat	http://purl.obolibrary.org/obo/ENVO_01001110	ecosystem		
http://purl.obolibrary.org/obo/ENVO_01000817	biosphere	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/ENVO_01000820	pedosphere	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/ENVO_01001239	forest canopy	http://purl.obolibrary.org/obo/ENVO_01001242	canopy		
http://purl.obolibrary.org/obo/ENVO_01001784	compound astronomical body part	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/ENVO_01000983	technosphere	http://purl.obolibrary.org/obo/ENVO_01000813	astronomical body part		
http://purl.obolibrary.org/obo/ENVO_00001995	rock	http://purl.obolibrary.org/obo/ENVO_01000814	solid environmental material		
http://purl.obolibrary.org/obo/ENVO_01000256	mineral material	http://purl.obolibrary.org/obo/ENVO_01000814	solid environmental material		
http://purl.obolibrary.org/obo/ENVO_00000194	scree	http://purl.obolibrary.org/obo/ENVO_01000814	solid environmental material		
http://purl.obolibrary.org/obo/ENVO_00002008	dust	http://purl.obolibrary.org/obo/ENVO_01000060	particulate environmental material		
http://purl.obolibrary.org/obo/ENVO_01000845	crystal	http://purl.obolibrary.org/obo/ENVO_01000814	solid environmental material		
http://purl.obolibrary.org/obo/ENVO_00002006	liquid water	http://purl.obolibrary.org/obo/ENVO_01000815	liquid environmental material		
http://purl.obolibrary.org/obo/ENVO_00000106	grassland area	http://purl.obolibrary.org/obo/ENVO_01001305	vegetated area		
http://purl.obolibrary.org/obo/ENVO_01000887	area of sedge- and forb-dominated herbaceous vegetation	http://purl.obolibrary.org/obo/ENVO_01001305	vegetated area		
http://purl.obolibrary.org/obo/ENVO_00000109	woodland area	http://purl.obolibrary.org/obo/ENVO_01001305	vegetated area		
http://purl.obolibrary.org/obo/ENVO_00000300	scrubland area	http://purl.obolibrary.org/obo/ENVO_01001305	vegetated area		
http://purl.obolibrary.org/obo/ENVO_01001293	bush area	http://purl.obolibrary.org/obo/ENVO_01001305	vegetated area		
http://purl.obolibrary.org/obo/ENVO_03000008	compaction process	http://purl.obolibrary.org/obo/ENVO_02500000	environmental system process		
http://purl.obolibrary.org/obo/ENVO_01001618	ice accumulation process	http://purl.obolibrary.org/obo/ENVO_03000009	material accumulation process		
http://purl.obolibrary.org/obo/ENVO_01001619	snow and ice accumulation process	http://purl.obolibrary.org/obo/ENVO_02500031	hydrological process		
http://purl.obolibrary.org/obo/ENVO_01000254	environmental system	http://purl.obolibrary.org/obo/RO_0002577	system		
http://purl.obolibrary.org/obo/CL_0000034	stem cell	http://purl.obolibrary.org/obo/CL_0011115	precursor cell		
http://purl.obolibrary.org/obo/NCBITaxon_34989	Colubroidea	http://purl.obolibrary.org/obo/NCBITaxon_8570	Serpentes		
http://purl.obolibrary.org/obo/SO_0000252	rRNA	http://purl.obolibrary.org/obo/SO_0000655	ncRNA		
http://purl.obolibrary.org/obo/SO_0001877	lncRNA	http://purl.obolibrary.org/obo/SO_0000655	ncRNA		
http://purl.obolibrary.org/obo/SO_0000185	primary_transcript	http://purl.obolibrary.org/obo/SO_0000673	transcript		
http://purl.obolibrary.org/obo/SO_0000233	mature_transcript	http://purl.obolibrary.org/obo/SO_0000673	transcript		
http://purl.obolibrary.org/obo/SO_0000673	transcript	http://purl.obolibrary.org/obo/SO_0000831	gene_member_region		
http://purl.obolibrary.org/obo/SO_0001637	rRNA_gene	http://purl.obolibrary.org/obo/SO_0001263	ncRNA_gene		
http://purl.obolibrary.org/obo/SO_0002342	sncRNA_gene	http://purl.obolibrary.org/obo/SO_0001263	ncRNA_gene		
http://purl.obolibrary.org/obo/SO_0001235	replicon	http://purl.obolibrary.org/obo/SO_0001411	biological_region		
http://purl.obolibrary.org/obo/SO_0005855	gene_group	http://purl.obolibrary.org/obo/SO_0001411	biological_region		
http://purl.obolibrary.org/obo/SO_0000831	gene_member_region	http://purl.obolibrary.org/obo/SO_0001411	biological_region		
http://purl.obolibrary.org/obo/SO_0000704	gene	http://purl.obolibrary.org/obo/SO_0001411	biological_region		
http://purl.obolibrary.org/obo/SO_0000159	deletion	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		
http://purl.obolibrary.org/obo/SO_1000002	substitution	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		
http://purl.obolibrary.org/obo/SO_1000036	inversion	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		
http://purl.obolibrary.org/obo/NCBITaxon_3050295	Cytomegalovirus humanbeta5	http://purl.obolibrary.org/obo/NCBITaxon_10358	Cytomegalovirus		
http://purl.obolibrary.org/obo/NCBITaxon_103826	Thelazia	http://purl.obolibrary.org/obo/NCBITaxon_103828	Thelaziidae		
http://purl.obolibrary.org/obo/NCBITaxon_103828	Thelaziidae	http://purl.obolibrary.org/obo/NCBITaxon_103829	Thelazioidea		
http://purl.obolibrary.org/obo/NCBITaxon_3047809	Cripavirus drosophilae	http://purl.obolibrary.org/obo/NCBITaxon_144051	Cripavirus		
http://purl.obolibrary.org/obo/NCBITaxon_481310	Demodex folliculorum	http://purl.obolibrary.org/obo/NCBITaxon_188544	Demodex		
http://purl.obolibrary.org/obo/NCBITaxon_188547	Cheyletoidea	http://purl.obolibrary.org/obo/NCBITaxon_188550	Raphignathae		
http://purl.obolibrary.org/obo/NCBITaxon_326431	Kryptolebias	http://purl.obolibrary.org/obo/NCBITaxon_28771	Rivulidae		
http://purl.obolibrary.org/obo/NCBITaxon_13712	Tamias	http://purl.obolibrary.org/obo/NCBITaxon_337730	Marmotini		
http://purl.obolibrary.org/obo/NCBITaxon_35278	unclassified ssRNA positive-strand viruses	http://purl.obolibrary.org/obo/NCBITaxon_439490	unclassified ssRNA viruses		
http://purl.obolibrary.org/obo/NCBITaxon_110618	Nectriaceae	http://purl.obolibrary.org/obo/NCBITaxon_5125	Hypocreales		
http://purl.obolibrary.org/obo/NCBITaxon_1884637	Cryptococcus gattii species complex	http://purl.obolibrary.org/obo/NCBITaxon_5206	Cryptococcus <basidiomycete fungi>		
http://purl.obolibrary.org/obo/NCBITaxon_1897064	Cryptococcus neoformans species complex	http://purl.obolibrary.org/obo/NCBITaxon_5206	Cryptococcus <basidiomycete fungi>		
http://purl.obolibrary.org/obo/NCBITaxon_222416	Trachypithecus auratus	http://purl.obolibrary.org/obo/NCBITaxon_54136	Trachypithecus		
http://purl.obolibrary.org/obo/NCBITaxon_54180	Trachypithecus francoisi	http://purl.obolibrary.org/obo/NCBITaxon_54136	Trachypithecus		
http://purl.obolibrary.org/obo/NCBITaxon_122765	Trachypithecus cristatus	http://purl.obolibrary.org/obo/NCBITaxon_54136	Trachypithecus		
http://purl.obolibrary.org/obo/NCBITaxon_66360	Cochliomyia	http://purl.obolibrary.org/obo/NCBITaxon_54281	Chrysomyini		
http://purl.obolibrary.org/obo/NCBITaxon_55872	Dracunculoidea	http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina		
http://purl.obolibrary.org/obo/NCBITaxon_6249	Ascaridomorpha	http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina		
http://purl.obolibrary.org/obo/NCBITaxon_70426	Oxyuridomorpha	http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina		
http://purl.obolibrary.org/obo/NCBITaxon_43913	Chrysomyinae	http://purl.obolibrary.org/obo/NCBITaxon_7371	Calliphoridae		
http://purl.obolibrary.org/obo/NCBITaxon_104454	Heterophyes	http://purl.obolibrary.org/obo/NCBITaxon_84526	Heterophyidae		
http://purl.obolibrary.org/obo/NCBITaxon_84527	Metagonimus	http://purl.obolibrary.org/obo/NCBITaxon_84526	Heterophyidae		
http://purl.obolibrary.org/obo/NCBITaxon_84529	Metagonimus yokogawai	http://purl.obolibrary.org/obo/NCBITaxon_84527	Metagonimus		
http://purl.obolibrary.org/obo/NCBITaxon_2805591	Tropherymataceae	http://purl.obolibrary.org/obo/NCBITaxon_85006	Micrococcales		
http://purl.obolibrary.org/obo/NCBITaxon_31143	Elaphe climacophora	http://purl.obolibrary.org/obo/NCBITaxon_8579	Elaphe		
http://purl.obolibrary.org/obo/NCBITaxon_9732	Orcinus	http://purl.obolibrary.org/obo/NCBITaxon_9726	Delphinidae		
http://purl.obolibrary.org/obo/NCBITaxon_6029	Microsporidia	http://purl.obolibrary.org/obo/NCBITaxon_112252	Fungi incertae sedis		
http://purl.obolibrary.org/obo/NCBITaxon_1913637	Mucoromycota	http://purl.obolibrary.org/obo/NCBITaxon_112252	Fungi incertae sedis		
http://purl.obolibrary.org/obo/NCBITaxon_1913638	Zoopagomycota	http://purl.obolibrary.org/obo/NCBITaxon_112252	Fungi incertae sedis		
http://purl.obolibrary.org/obo/NCBITaxon_5052	Aspergillus	http://purl.obolibrary.org/obo/NCBITaxon_1131492	Aspergillaceae		
http://purl.obolibrary.org/obo/NCBITaxon_5073	Penicillium	http://purl.obolibrary.org/obo/NCBITaxon_1131492	Aspergillaceae		
http://purl.obolibrary.org/obo/NCBITaxon_8579	Elaphe	http://purl.obolibrary.org/obo/NCBITaxon_169863	Colubrinae		
http://purl.obolibrary.org/obo/NCBITaxon_3049954	Orthopneumovirus hominis	http://purl.obolibrary.org/obo/NCBITaxon_1868215	Orthopneumovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3049953	Respirovirus pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_186938	Respirovirus		
http://purl.obolibrary.org/obo/NCBITaxon_3049952	Respirovirus laryngotracheitidis	http://purl.obolibrary.org/obo/NCBITaxon_186938	Respirovirus		
http://purl.obolibrary.org/obo/NCBITaxon_1463974	Cryptostroma	http://purl.obolibrary.org/obo/NCBITaxon_189359	Xylariales incertae sedis		
http://purl.obolibrary.org/obo/NCBITaxon_171549	Bacteroidales	http://purl.obolibrary.org/obo/NCBITaxon_200643	Bacteroidia		
http://purl.obolibrary.org/obo/NCBITaxon_30460	Bubo	http://purl.obolibrary.org/obo/NCBITaxon_30459	Strigidae		
http://purl.obolibrary.org/obo/NCBITaxon_2499607	Variarterivirinae	http://purl.obolibrary.org/obo/NCBITaxon_325675	unclassified Arteriviridae		
http://purl.obolibrary.org/obo/NCBITaxon_12845	Swine influenza virus	http://purl.obolibrary.org/obo/NCBITaxon_35324	unclassified Orthomyxoviridae		
http://purl.obolibrary.org/obo/NCBITaxon_374468	Nakaseomyces	http://purl.obolibrary.org/obo/NCBITaxon_4893	Saccharomycetaceae		
http://purl.obolibrary.org/obo/NCBITaxon_2601529	Tetramitia	http://purl.obolibrary.org/obo/NCBITaxon_5752	Heterolobosea		
http://purl.obolibrary.org/obo/NCBITaxon_41165	Schizopyrenida	http://purl.obolibrary.org/obo/NCBITaxon_5752	Heterolobosea		
http://purl.obolibrary.org/obo/NCBITaxon_44417	Cyclospora	http://purl.obolibrary.org/obo/NCBITaxon_5799	Eimeriidae		
http://purl.obolibrary.org/obo/NCBITaxon_121228	Pthirus pubis	http://purl.obolibrary.org/obo/NCBITaxon_121227	Pthirus		
http://purl.obolibrary.org/obo/NCBITaxon_121227	Pthirus	http://purl.obolibrary.org/obo/NCBITaxon_121229	Pthiridae		
http://purl.obolibrary.org/obo/NCBITaxon_28843	Diphyllobothriidae	http://purl.obolibrary.org/obo/NCBITaxon_1224679	Diphyllobothriidea		
http://purl.obolibrary.org/obo/NCBITaxon_121739	Lacazia	http://purl.obolibrary.org/obo/NCBITaxon_1593277	Onygenales incertae sedis		
http://purl.obolibrary.org/obo/NCBITaxon_144051	Cripavirus	http://purl.obolibrary.org/obo/NCBITaxon_232795	Dicistroviridae		
http://purl.obolibrary.org/obo/NCBITaxon_3052225	Henipavirus nipahense	http://purl.obolibrary.org/obo/NCBITaxon_260964	Henipavirus		
http://purl.obolibrary.org/obo/NCBITaxon_2267273	Dibothriocephalus	http://purl.obolibrary.org/obo/NCBITaxon_28843	Diphyllobothriidae		
http://purl.obolibrary.org/obo/NCBITaxon_46580	Spirometra	http://purl.obolibrary.org/obo/NCBITaxon_28843	Diphyllobothriidae		
http://purl.obolibrary.org/obo/NCBITaxon_56268	Bubo virginianus	http://purl.obolibrary.org/obo/NCBITaxon_30460	Bubo		
http://purl.obolibrary.org/obo/NCBITaxon_42231	Mansonella perstans	http://purl.obolibrary.org/obo/NCBITaxon_42230	Mansonella		
http://purl.obolibrary.org/obo/NCBITaxon_122354	Mansonella ozzardi	http://purl.obolibrary.org/obo/NCBITaxon_42230	Mansonella		
http://purl.obolibrary.org/obo/NCBITaxon_88456	Cyclospora cayetanensis	http://purl.obolibrary.org/obo/NCBITaxon_44417	Cyclospora		
http://purl.obolibrary.org/obo/NCBITaxon_5761	Naegleria	http://purl.obolibrary.org/obo/NCBITaxon_5765	Vahlkampfiidae		
http://purl.obolibrary.org/obo/NCBITaxon_8128	Oreochromis niloticus	http://purl.obolibrary.org/obo/NCBITaxon_8139	Oreochromis		
http://purl.obolibrary.org/obo/NCBITaxon_11646	Lentivirus	http://purl.obolibrary.org/obo/NCBITaxon_1233735	unclassified Orthoretrovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_123737	Oestrus ovis	http://purl.obolibrary.org/obo/NCBITaxon_123736	Oestrus		
http://purl.obolibrary.org/obo/NCBITaxon_124130	Acipenserini	http://purl.obolibrary.org/obo/NCBITaxon_124129	Acipenserinae		
http://purl.obolibrary.org/obo/NCBITaxon_7901	Acipenser	http://purl.obolibrary.org/obo/NCBITaxon_124130	Acipenserini		
http://purl.obolibrary.org/obo/NCBITaxon_287	Pseudomonas aeruginosa	http://purl.obolibrary.org/obo/NCBITaxon_136841	Pseudomonas aeruginosa group		
http://purl.obolibrary.org/obo/NCBITaxon_64680	Tamias sibiricus	http://purl.obolibrary.org/obo/NCBITaxon_13712	Tamias		
http://purl.obolibrary.org/obo/NCBITaxon_1239	Bacillota	http://purl.obolibrary.org/obo/NCBITaxon_1783272	Bacillati		
http://purl.obolibrary.org/obo/NCBITaxon_201174	Actinomycetota	http://purl.obolibrary.org/obo/NCBITaxon_1783272	Bacillati		
http://purl.obolibrary.org/obo/NCBITaxon_544448	Mycoplasmatota	http://purl.obolibrary.org/obo/NCBITaxon_1783272	Bacillati		
http://purl.obolibrary.org/obo/NCBITaxon_52282	Sarcoptes	http://purl.obolibrary.org/obo/NCBITaxon_474019	Sarcoptinae		
http://purl.obolibrary.org/obo/NCBITaxon_123736	Oestrus	http://purl.obolibrary.org/obo/NCBITaxon_54285	Oestrinae		
http://purl.obolibrary.org/obo/NCBITaxon_385255	Eublepharinae	http://purl.obolibrary.org/obo/NCBITaxon_1329930	Eublepharidae		
http://purl.obolibrary.org/obo/NCBITaxon_43351	Dientamoeba	http://purl.obolibrary.org/obo/NCBITaxon_740973	Dientamoebidae		
http://purl.obolibrary.org/obo/NCBITaxon_1329930	Eublepharidae	http://purl.obolibrary.org/obo/NCBITaxon_8560	Gekkota		
http://purl.obolibrary.org/obo/NCBITaxon_84642	Aeromonadaceae	http://purl.obolibrary.org/obo/NCBITaxon_135624	Aeromonadales		
http://purl.obolibrary.org/obo/NCBITaxon_69292	Gasterosteus	http://purl.obolibrary.org/obo/NCBITaxon_69291	Gasterosteidae		
http://purl.obolibrary.org/obo/NCBITaxon_135621	Pseudomonadaceae	http://purl.obolibrary.org/obo/NCBITaxon_72274	Pseudomonadales		
http://purl.obolibrary.org/obo/NCBITaxon_740973	Dientamoebidae	http://purl.obolibrary.org/obo/NCBITaxon_740972	Tritrichomonadida		
http://purl.obolibrary.org/obo/NCBITaxon_1463975	Cryptostroma corticale	http://purl.obolibrary.org/obo/NCBITaxon_1463974	Cryptostroma		
http://purl.obolibrary.org/obo/NCBITaxon_6334	Trichinella spiralis	http://purl.obolibrary.org/obo/NCBITaxon_6333	Trichinella		
http://purl.obolibrary.org/obo/NCBITaxon_30396	Buteo	http://purl.obolibrary.org/obo/NCBITaxon_8955	Accipitrinae		
http://purl.obolibrary.org/obo/NCBITaxon_8956	Accipiter	http://purl.obolibrary.org/obo/NCBITaxon_8955	Accipitrinae		
http://purl.obolibrary.org/obo/NCBITaxon_3410462	Astur	http://purl.obolibrary.org/obo/NCBITaxon_8955	Accipitrinae		
http://purl.obolibrary.org/obo/NCBITaxon_147572	Piedraia	http://purl.obolibrary.org/obo/NCBITaxon_147571	Piedraiaceae		
http://purl.obolibrary.org/obo/NCBITaxon_147573	Piedraia hortae	http://purl.obolibrary.org/obo/NCBITaxon_147572	Piedraia		
http://purl.obolibrary.org/obo/NCBITaxon_555407	Centramoebida	http://purl.obolibrary.org/obo/NCBITaxon_1485168	Longamoebia		
http://purl.obolibrary.org/obo/NCBITaxon_85819	Phthiraptera	http://purl.obolibrary.org/obo/NCBITaxon_160148	Troctomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_147389	Triticeae	http://purl.obolibrary.org/obo/NCBITaxon_1648038	Triticodae		
http://purl.obolibrary.org/obo/NCBITaxon_815	Bacteroidaceae	http://purl.obolibrary.org/obo/NCBITaxon_171549	Bacteroidales		
http://purl.obolibrary.org/obo/NCBITaxon_34487	Conidiobolus	http://purl.obolibrary.org/obo/NCBITaxon_34486	Ancylistaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1485168	Longamoebia	http://purl.obolibrary.org/obo/NCBITaxon_555280	Discosea		
http://purl.obolibrary.org/obo/NCBITaxon_69293	Gasterosteus aculeatus	http://purl.obolibrary.org/obo/NCBITaxon_69292	Gasterosteus		
http://purl.obolibrary.org/obo/NCBITaxon_8799	Struthionidae	http://purl.obolibrary.org/obo/NCBITaxon_8798	Struthioniformes		
http://purl.obolibrary.org/obo/NCBITaxon_9861	Cervus canadensis canadensis	http://purl.obolibrary.org/obo/NCBITaxon_1574408	Cervus canadensis		
http://purl.obolibrary.org/obo/NCBITaxon_48791	Setariidae	http://purl.obolibrary.org/obo/NCBITaxon_6295	Filarioidea		
http://purl.obolibrary.org/obo/NCBITaxon_9863	Cervus nippon	http://purl.obolibrary.org/obo/NCBITaxon_9859	Cervus		
http://purl.obolibrary.org/obo/NCBITaxon_1574408	Cervus canadensis	http://purl.obolibrary.org/obo/NCBITaxon_9859	Cervus		
http://purl.obolibrary.org/obo/NCBITaxon_5754	Acanthamoeba	http://purl.obolibrary.org/obo/NCBITaxon_33677	Acanthamoebidae		
http://purl.obolibrary.org/obo/NCBITaxon_90339	Rhinosporidium seeberi	http://purl.obolibrary.org/obo/NCBITaxon_90338	Rhinosporidium		
http://purl.obolibrary.org/obo/NCBITaxon_34881	Enhydra	http://purl.obolibrary.org/obo/NCBITaxon_169417	Lutrinae		
http://purl.obolibrary.org/obo/NCBITaxon_5039	Blastomyces dermatitidis	http://purl.obolibrary.org/obo/NCBITaxon_229219	Blastomyces		
http://purl.obolibrary.org/obo/NCBITaxon_2060905	Blastomyces parvus	http://purl.obolibrary.org/obo/NCBITaxon_229219	Blastomyces		
http://purl.obolibrary.org/obo/NCBITaxon_2682482	Mastigamoebida	http://purl.obolibrary.org/obo/NCBITaxon_555406	Archamoebae		
http://purl.obolibrary.org/obo/NCBITaxon_36362	Polyomavirus sp.	http://purl.obolibrary.org/obo/NCBITaxon_1723728	unclassified Polyomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_37003	Kryptolebias marmoratus	http://purl.obolibrary.org/obo/NCBITaxon_326431	Kryptolebias		
http://purl.obolibrary.org/obo/NCBITaxon_54285	Oestrinae	http://purl.obolibrary.org/obo/NCBITaxon_7387	Oestridae		
http://purl.obolibrary.org/obo/NCBITaxon_9651	Nasua nasua	http://purl.obolibrary.org/obo/NCBITaxon_9650	Nasua		
http://purl.obolibrary.org/obo/NCBITaxon_181550	Trichomonadidae	http://purl.obolibrary.org/obo/NCBITaxon_37104	Trichomonadida		
http://purl.obolibrary.org/obo/NCBITaxon_4859	Basidiobolus	http://purl.obolibrary.org/obo/NCBITaxon_4858	Basidiobolaceae		
http://purl.obolibrary.org/obo/NCBITaxon_223472	Psoroptidia	http://purl.obolibrary.org/obo/NCBITaxon_6951	Astigmata		
http://purl.obolibrary.org/obo/NCBITaxon_513040	Dioctophymatidae	http://purl.obolibrary.org/obo/NCBITaxon_241475	Dioctophymatoidea		
http://purl.obolibrary.org/obo/NCBITaxon_244585	Urocyon littoralis	http://purl.obolibrary.org/obo/NCBITaxon_55039	Urocyon		
http://purl.obolibrary.org/obo/NCBITaxon_59729	Taeniopygia guttata	http://purl.obolibrary.org/obo/NCBITaxon_59728	Taeniopygia		
http://purl.obolibrary.org/obo/NCBITaxon_9689	Panthera leo	http://purl.obolibrary.org/obo/NCBITaxon_9688	Panthera		
http://purl.obolibrary.org/obo/NCBITaxon_9694	Panthera tigris	http://purl.obolibrary.org/obo/NCBITaxon_9688	Panthera		
http://purl.obolibrary.org/obo/NCBITaxon_9695	Panthera tigris sumatrae	http://purl.obolibrary.org/obo/NCBITaxon_9694	Panthera tigris		
http://purl.obolibrary.org/obo/NCBITaxon_74533	Panthera tigris altaica	http://purl.obolibrary.org/obo/NCBITaxon_9694	Panthera tigris		
http://purl.obolibrary.org/obo/NCBITaxon_9783	Elephas maximus	http://purl.obolibrary.org/obo/NCBITaxon_9782	Elephas		
http://purl.obolibrary.org/obo/NCBITaxon_52281	Sarcoptidae	http://purl.obolibrary.org/obo/NCBITaxon_83158	Sarcoptoidea		
http://purl.obolibrary.org/obo/NCBITaxon_337730	Marmotini	http://purl.obolibrary.org/obo/NCBITaxon_337726	Xerinae		
http://purl.obolibrary.org/obo/NCBITaxon_34880	Nyctereutes procyonoides	http://purl.obolibrary.org/obo/NCBITaxon_34879	Nyctereutes		
http://purl.obolibrary.org/obo/NCBITaxon_34882	Enhydra lutris	http://purl.obolibrary.org/obo/NCBITaxon_34881	Enhydra		
http://purl.obolibrary.org/obo/NCBITaxon_34486	Ancylistaceae	http://purl.obolibrary.org/obo/NCBITaxon_4857	Entomophthorales		
http://purl.obolibrary.org/obo/NCBITaxon_33677	Acanthamoebidae	http://purl.obolibrary.org/obo/NCBITaxon_555407	Centramoebida		
http://purl.obolibrary.org/obo/NCBITaxon_5740	Giardia	http://purl.obolibrary.org/obo/NCBITaxon_68459	Giardiinae		
http://purl.obolibrary.org/obo/NCBITaxon_54281	Chrysomyini	http://purl.obolibrary.org/obo/NCBITaxon_43913	Chrysomyinae		
http://purl.obolibrary.org/obo/NCBITaxon_9102	Meleagris	http://purl.obolibrary.org/obo/NCBITaxon_466552	Meleagridinae		
http://purl.obolibrary.org/obo/NCBITaxon_46683	Ascaridiidae	http://purl.obolibrary.org/obo/NCBITaxon_46682	Heterakoidea		
http://purl.obolibrary.org/obo/NCBITaxon_474019	Sarcoptinae	http://purl.obolibrary.org/obo/NCBITaxon_52281	Sarcoptidae		
http://purl.obolibrary.org/obo/NCBITaxon_59523	Antidorcas marsupialis	http://purl.obolibrary.org/obo/NCBITaxon_59522	Antidorcas		
http://purl.obolibrary.org/obo/NCBITaxon_6333	Trichinella	http://purl.obolibrary.org/obo/NCBITaxon_6332	Trichinellidae		
http://purl.obolibrary.org/obo/NCBITaxon_9986	Oryctolagus cuniculus	http://purl.obolibrary.org/obo/NCBITaxon_9984	Oryctolagus		
http://purl.obolibrary.org/obo/HP_0030964	Abnormal aortic physiology	http://purl.obolibrary.org/obo/HP_0025323	Abnormal arterial physiology		
http://purl.obolibrary.org/obo/HP_0033401	Tissue ischemia	http://purl.obolibrary.org/obo/HP_0025323	Abnormal arterial physiology		
http://purl.obolibrary.org/obo/HP_0030290	Unossified sacrum	http://purl.obolibrary.org/obo/HP_0025370	Abnormal ossification of the sacrum		
http://purl.obolibrary.org/obo/FOODON_00002196	refined or partially-refined food product	http://purl.obolibrary.org/obo/FOODON_03311737	processed food		
http://purl.obolibrary.org/obo/FOODON_00001055	sea water fish food product	http://purl.obolibrary.org/obo/FOODON_00001046	animal seafood product		
http://purl.obolibrary.org/obo/FOODON_03412972	food additive	http://purl.obolibrary.org/obo/FOODON_03411041	chemical food component		
http://purl.obolibrary.org/obo/FOODON_03411607	nut or edible seed producing plant	http://purl.obolibrary.org/obo/FOODON_03411047	grain or seed-producing plant		
http://purl.obolibrary.org/obo/FOODON_03411087	human as milk source	http://purl.obolibrary.org/obo/FOODON_03411134	mammal		
http://purl.obolibrary.org/obo/FOODON_03420144	plant above surface, excluding fruit and seed	http://purl.obolibrary.org/obo/FOODON_03420148	root, stem, leaf or flower		
http://purl.obolibrary.org/obo/FOODON_00005522	invertebrate material	http://purl.obolibrary.org/obo/FOODON_03420164	animal material		
http://purl.obolibrary.org/obo/FOODON_03420127	animal (whole or piece(s))	http://purl.obolibrary.org/obo/FOODON_03420164	animal material		
http://purl.obolibrary.org/obo/FOODON_03420110	peel, core or seed	http://purl.obolibrary.org/obo/FOODON_03420167	fruit part		
http://purl.obolibrary.org/obo/FOODON_03302116	cow milk (liquid)	http://purl.obolibrary.org/obo/FOODON_00001771	cow milk based food product		
http://purl.obolibrary.org/obo/FOODON_03430150	whole, natural shape	http://purl.obolibrary.org/obo/FOODON_03430131	whole		
http://purl.obolibrary.org/obo/FOODON_00001172	nut food product	http://purl.obolibrary.org/obo/FOODON_00001262	botanical fruit food product		
http://purl.obolibrary.org/obo/FOODON_00001173	plant seed food product	http://purl.obolibrary.org/obo/FOODON_03460177	plant seed or nut food product		
http://purl.obolibrary.org/obo/FOODON_03510019	cattle as consumer	http://purl.obolibrary.org/obo/FOODON_03510021	animal as food consumer		
http://purl.obolibrary.org/obo/NCBITaxon_5207	Cryptococcus neoformans	http://purl.obolibrary.org/obo/NCBITaxon_1897064	Cryptococcus neoformans species complex		
http://purl.obolibrary.org/obo/FOODON_00001882	fruit based alcoholic beverage	http://purl.obolibrary.org/obo/FOODON_00001579	alcoholic beverage		
http://purl.obolibrary.org/obo/FOODON_00001854	fish food product analog	http://purl.obolibrary.org/obo/FOODON_00001871	food material analog		
http://purl.obolibrary.org/obo/FOODON_00001916	grain based alcoholic beverage	http://purl.obolibrary.org/obo/FOODON_00001882	fruit based alcoholic beverage		
http://purl.obolibrary.org/obo/FOODON_00002244	snail food product	http://purl.obolibrary.org/obo/FOODON_00002044	mollusc food product		
http://purl.obolibrary.org/obo/FOODON_00001907	gluten refined food product	http://purl.obolibrary.org/obo/FOODON_00002131	plant based refined or partially-refined food product		
http://purl.obolibrary.org/obo/FOODON_00002131	plant based refined or partially-refined food product	http://purl.obolibrary.org/obo/FOODON_00002196	refined or partially-refined food product		
http://purl.obolibrary.org/obo/HP_0000095	Abnormal renal glomerulus morphology	http://purl.obolibrary.org/obo/HP_0031263	Abnormal renal corpuscle morphology		
http://purl.obolibrary.org/obo/HP_0000967	Petechiae	http://purl.obolibrary.org/obo/HP_0031365	Macular purpura		
http://purl.obolibrary.org/obo/HP_0001718	Mitral stenosis	http://purl.obolibrary.org/obo/HP_0031481	Abnormal mitral valve physiology		
http://purl.obolibrary.org/obo/MONDO_0971131	bilateral diffuse uveal melanocytic proliferation disease	http://purl.obolibrary.org/obo/MONDO_0021073	paraneoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0017330	malignancy diagnosed during pregnancy	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/MONDO_0850046	amniotic fluid embolism	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/MONDO_0850013	twin anemia-polycythemia sequence	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/MONDO_0850014	twin-reversed arterial perfusion sequence	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/MONDO_0850015	selective intrauterine growth restriction	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/MONDO_0971089	vasa previa	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/MONDO_0035882	chronic intervillositis of unknown etiology	http://purl.obolibrary.org/obo/MONDO_0024575	pregnancy disorder		
http://purl.obolibrary.org/obo/HP_0100755	Abnormality of salivation	http://purl.obolibrary.org/obo/HP_0031815	Abnormal oral physiology		
http://purl.obolibrary.org/obo/GO_0005576	extracellular region	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0005652	nuclear lamina	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0005930	axoneme	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0012505	endomembrane system	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0016020	membrane	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0030017	sarcomere	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0030054	cell junction	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0030312	external encapsulating structure	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0031967	organelle envelope	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0031974	membrane-enclosed lumen	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0034399	nuclear periphery	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0036379	myofilament	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0071944	cell periphery	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0098793	presynapse	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0098862	cluster of actin-based cell projections	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0099080	supramolecular complex	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0000785	chromatin	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0005622	intracellular anatomical structure	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0005737	cytoplasm	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0005829	cytosol	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0032432	actin filament bundle	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0042995	cell projection	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0043226	organelle	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0098687	chromosomal region	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0036477	somatodendritic compartment	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0043209	myelin sheath	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0044292	dendrite terminus	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0044297	cell body	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0098794	postsynapse	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0097540	axonemal central pair	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0097545	axonemal doublet microtubule	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0099522	cytosolic region	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_1990716	axonemal central apparatus	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0009295	nucleoid	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/GO_0045177	apical part of cell	http://purl.obolibrary.org/obo/GO_0110165	cellular anatomical structure		
http://purl.obolibrary.org/obo/HP_0002373	Febrile seizure (within the age range of 3 months to 6 years)	http://purl.obolibrary.org/obo/HP_0032894	Seizure precipitated by febrile infection		
http://purl.obolibrary.org/obo/MONDO_0026762	Wieacker-Wolff syndrome, female-restricted	http://purl.obolibrary.org/obo/MONDO_0025445	Wieacker-Wolff syndrome (spectrum)		
http://purl.obolibrary.org/obo/NCBITaxon_2683629	Opalozoa	http://purl.obolibrary.org/obo/NCBITaxon_2683628	Bigyra		
http://purl.obolibrary.org/obo/NCBITaxon_42740	Opalinata	http://purl.obolibrary.org/obo/NCBITaxon_2683629	Opalozoa		
http://purl.obolibrary.org/obo/NCBITaxon_2704949	Trypanosomatida	http://purl.obolibrary.org/obo/NCBITaxon_2704647	Metakinetoplastina		
http://purl.obolibrary.org/obo/NCBITaxon_5654	Trypanosomatidae	http://purl.obolibrary.org/obo/NCBITaxon_2704949	Trypanosomatida		
http://purl.obolibrary.org/obo/NCBITaxon_75966	Trebouxiophyceae	http://purl.obolibrary.org/obo/NCBITaxon_2692248	core chlorophytes		
http://purl.obolibrary.org/obo/MONDO_0957481	idiopathic pregnancy-associated osteoporosis	http://purl.obolibrary.org/obo/MONDO_0100194	pregnancy associated osteoporosis		
http://purl.obolibrary.org/obo/MONDO_0010440	autism, susceptibility to, X-linked 4	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0010321	autism, susceptibility to, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0010342	autism, susceptibility to, X-linked 3	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0010449	autism, susceptibility to, X-linked 5	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0010469	epsilon-trimethyllysine hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0800275	autism, susceptibility to, 14a	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0800287	autism, susceptibility to, 14b	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0800416	autism, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0800417	autism, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0011824	autism, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0011956	autism, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0012261	autism, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0012533	autism, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0012566	autism, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0012567	autism, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0012578	autism, susceptibility to, 13	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0012600	autism, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0012601	autism, susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0012801	autism, susceptibility to, 15	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0013258	autism, susceptibility to, 16	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0013265	autism, susceptibility to, 17	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0030004	autism, susceptibility to, 20	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0014017	intellectual developmental disorder with autism and macrocephaly	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0014041	autism, susceptibility to, 19	http://purl.obolibrary.org/obo/MONDO_0020836	autism, susceptiblity to		
http://purl.obolibrary.org/obo/MONDO_0010252	intellectual disability, X-linked, with panhypopituitarism	http://purl.obolibrary.org/obo/MONDO_0100195	X-linked intellectual disability with hypopituitarism		
http://purl.obolibrary.org/obo/HP_0030347	Abnormal circulating androgen level	http://purl.obolibrary.org/obo/HP_0033799	Abnormal circulating sex hormone concentration		
http://purl.obolibrary.org/obo/GO_0042030	ATPase inhibitor activity	http://purl.obolibrary.org/obo/GO_0140678	molecular function inhibitor activity		
http://purl.obolibrary.org/obo/GO_0140416	transcription regulator inhibitor activity	http://purl.obolibrary.org/obo/GO_0140678	molecular function inhibitor activity		
http://purl.obolibrary.org/obo/GO_0141110	transporter inhibitor activity	http://purl.obolibrary.org/obo/GO_0141108	transporter regulator activity		
http://purl.obolibrary.org/obo/PATO_0001396	cellular quality	http://purl.obolibrary.org/obo/PATO_0070044	anatomical structure quality		
http://purl.obolibrary.org/obo/PATO_0070046	neutrophillic	http://purl.obolibrary.org/obo/PATO_0070045	anatomical histological quality		
http://purl.obolibrary.org/obo/PATO_0070047	polychromatophilic	http://purl.obolibrary.org/obo/PATO_0070045	anatomical histological quality		
http://purl.obolibrary.org/obo/MONDO_0022178	chromosome 13q-mosaicism	http://purl.obolibrary.org/obo/MONDO_0700020	chromosome 13 disorder		
http://purl.obolibrary.org/obo/MONDO_0022177	chromosome 13q trisomy	http://purl.obolibrary.org/obo/MONDO_0700029	partial duplication of chromosome 13		
http://purl.obolibrary.org/obo/MONDO_0022746	chromosome 13p duplication	http://purl.obolibrary.org/obo/MONDO_0700029	partial duplication of chromosome 13		
http://purl.obolibrary.org/obo/MONDO_0030674	Teebi hypertelorism syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030639	Teebi hypertelorism syndrome		
http://purl.obolibrary.org/obo/MONDO_0030634	leukoencephalopathy, hereditary diffuse, with spheroids 2	http://purl.obolibrary.org/obo/MONDO_1010132	AARS1-related leukoencephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030625	dyskinesia with orofacial involvement, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0031115	dyskinesia with orofacial involvement		
http://purl.obolibrary.org/obo/MONDO_0100214	Rajab interstitial lung disease with brain calcifications	http://purl.obolibrary.org/obo/MONDO_0031199	inherited interstitial lung disease		
http://purl.obolibrary.org/obo/MONDO_0030993	Tessadori-Van Haaften neurodevelopmental syndrome 3	http://purl.obolibrary.org/obo/MONDO_0031400	Tessadori-Van-Haaften neurodevelopmental syndrome		
http://purl.obolibrary.org/obo/MONDO_0031000	Tessadori-Van Haaften neurodevelopmental syndrome 4	http://purl.obolibrary.org/obo/MONDO_0031400	Tessadori-Van-Haaften neurodevelopmental syndrome		
http://purl.obolibrary.org/obo/MONDO_0030729	Tessadori-van Haaften neurodevelopmental syndrome 1	http://purl.obolibrary.org/obo/MONDO_0031400	Tessadori-Van-Haaften neurodevelopmental syndrome		
http://purl.obolibrary.org/obo/MONDO_0030730	Tessadori-van Haaften neurodevelopmental syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031400	Tessadori-Van-Haaften neurodevelopmental syndrome		
http://purl.obolibrary.org/obo/MONDO_0035940	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	http://purl.obolibrary.org/obo/MONDO_0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality		
http://purl.obolibrary.org/obo/MONDO_0035941	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)	http://purl.obolibrary.org/obo/MONDO_0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality		
http://purl.obolibrary.org/obo/MONDO_0035942	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)	http://purl.obolibrary.org/obo/MONDO_0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality		
http://purl.obolibrary.org/obo/MONDO_0035943	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	http://purl.obolibrary.org/obo/MONDO_0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality		
http://purl.obolibrary.org/obo/MONDO_0035944	B-lymphoblastic leukemia/lymphoma with hypodiploidy	http://purl.obolibrary.org/obo/MONDO_0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality		
http://purl.obolibrary.org/obo/MONDO_0035945	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)	http://purl.obolibrary.org/obo/MONDO_0035605	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality		
http://purl.obolibrary.org/obo/MONDO_0030537	central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	http://purl.obolibrary.org/obo/MONDO_0800031	central hypoventilation syndrome, congenital		
http://purl.obolibrary.org/obo/MONDO_0030539	central hypoventilation syndrome, congenital, 3	http://purl.obolibrary.org/obo/MONDO_0800031	central hypoventilation syndrome, congenital		
http://purl.obolibrary.org/obo/MONDO_0032614	epidermodysplasia verruciformis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0100043	epidermodysplasia verruciformis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0032644	epidermodysplasia verruciformis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0100043	epidermodysplasia verruciformis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0032666	epidermodysplasia verruciformis, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0100043	epidermodysplasia verruciformis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0032667	epidermodysplasia verruciformis, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0100043	epidermodysplasia verruciformis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0100045	epidermodysplasia verruciformis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100043	epidermodysplasia verruciformis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0850089	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation	http://purl.obolibrary.org/obo/MONDO_0100191	inherited kidney disorder		
http://purl.obolibrary.org/obo/MONDO_0007053	restless legs syndrome, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012135	restless legs syndrome, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012492	restless legs syndrome, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012493	restless legs syndrome, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012636	restless legs syndrome, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012641	restless legs syndrome, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013022	restless legs syndrome, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0014079	restless legs syndrome, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0100170	restless legs syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0010834	Hirschsprung disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011741	Hirschsprung disease, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011742	Hirschsprung disease, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012042	Hirschsprung disease, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012710	Hirschsprung disease, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013383	Hirschsprung disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0100179	Hirschsprung disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0009164	encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0020853	encephalitis/encephalopathy, mild, with reversible myelin vacuolization	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0958224	encephalopathy, porphyria-related	http://purl.obolibrary.org/obo/MONDO_0700382	HMBS-related hepatic porphyria		
http://purl.obolibrary.org/obo/MONDO_0032681	encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0014968	encephalopathy, progressive, with amyotrophy and optic atrophy	http://purl.obolibrary.org/obo/MONDO_0100198	Mendelian encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0011924	panic disorder 2	http://purl.obolibrary.org/obo/MONDO_0031240	familial panic disorder		
http://purl.obolibrary.org/obo/MONDO_0012384	panic disorder 3	http://purl.obolibrary.org/obo/MONDO_0031240	familial panic disorder		
http://purl.obolibrary.org/obo/MONDO_0011084	psoriasis 3, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011387	psoriasis 4, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011434	psoriasis 5, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011542	psoriasis 6, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011573	psoriasis 7, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011926	psoriasis 9, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012542	psoriasis 8, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012896	psoriasis 10, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012959	psoriasis 11, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013057	psoriasis 12, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100171	psoriasis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011607	narcolepsy 2, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100049	narcolepsy, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012898	narcolepsy 4, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100049	narcolepsy, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013020	narcolepsy 5, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100049	narcolepsy, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013639	narcolepsy 6, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100049	narcolepsy, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0018763	tubulinopathy-associated dysgyria	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0859569	Braddock-Carey syndrome 1	http://purl.obolibrary.org/obo/MONDO_0031646	Braddock-Carey syndrome		
http://purl.obolibrary.org/obo/MONDO_0859570	braddock-carey syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031646	Braddock-Carey syndrome		
http://purl.obolibrary.org/obo/MONDO_0957495	hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	http://purl.obolibrary.org/obo/MONDO_0957097	hereditary hemolytic uremic syndrome		
http://purl.obolibrary.org/obo/CL_4033013	suprabasal keratinocyte	http://purl.obolibrary.org/obo/CL_4052061	epidermal keratinocyte		
http://purl.obolibrary.org/obo/NCBITaxon_11020	Barmah Forest virus	http://purl.obolibrary.org/obo/NCBITaxon_3426294	Alphavirus barmah		
http://purl.obolibrary.org/obo/NCBITaxon_11029	Ross River virus	http://purl.obolibrary.org/obo/NCBITaxon_3426314	Alphavirus rossriver		
http://purl.obolibrary.org/obo/NCBITaxon_11036	Venezuelan equine encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3426322	Alphavirus venezuelan		
http://purl.obolibrary.org/obo/NCBITaxon_11039	Western equine encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3426323	Alphavirus western		
http://purl.obolibrary.org/obo/NCBITaxon_11617	Arenaviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151839	Hareavirales		
http://purl.obolibrary.org/obo/NCBITaxon_1980415	Nairoviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151839	Hareavirales		
http://purl.obolibrary.org/obo/NCBITaxon_1980418	Phenuiviridae	http://purl.obolibrary.org/obo/NCBITaxon_3151839	Hareavirales		
http://purl.obolibrary.org/obo/NCBITaxon_11676	Human immunodeficiency virus 1	http://purl.obolibrary.org/obo/NCBITaxon_3418650	Lentivirus humimdef1		
http://purl.obolibrary.org/obo/NCBITaxon_11709	Human immunodeficiency virus 2	http://purl.obolibrary.org/obo/NCBITaxon_3418651	Lentivirus humimdef2		
http://purl.obolibrary.org/obo/NCBITaxon_12059	Enterovirus	http://purl.obolibrary.org/obo/NCBITaxon_2960224	unclassified Ensavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_12092	Hepatovirus A	http://purl.obolibrary.org/obo/NCBITaxon_3407641	Hepatovirus ahepa		
http://purl.obolibrary.org/obo/NCBITaxon_129726	Pseudocowpox virus	http://purl.obolibrary.org/obo/NCBITaxon_3431390	Parapoxvirus pseudocowpox		
http://purl.obolibrary.org/obo/NCBITaxon_1335626	Middle East respiratory syndrome-related coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_3433633	Betacoronavirus cameli		
http://purl.obolibrary.org/obo/NCBITaxon_138948	Enterovirus A	http://purl.obolibrary.org/obo/NCBITaxon_3428500	Enterovirus alphacoxsackie		
http://purl.obolibrary.org/obo/NCBITaxon_138949	Enterovirus B	http://purl.obolibrary.org/obo/NCBITaxon_3428502	Enterovirus betacoxsackie		
http://purl.obolibrary.org/obo/NCBITaxon_138950	Enterovirus C	http://purl.obolibrary.org/obo/NCBITaxon_3428505	Enterovirus coxsackiepol		
http://purl.obolibrary.org/obo/NCBITaxon_138951	Enterovirus D	http://purl.obolibrary.org/obo/NCBITaxon_3428506	Enterovirus deconjuncti		
http://purl.obolibrary.org/obo/NCBITaxon_151340	Papillomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2788857	unclassified Zurhausenvirales		
http://purl.obolibrary.org/obo/MONDO_0009008	heart defect - tongue hamartoma - polysyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0032853	myopathy, distal, 6, adult-onset, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0700349	ACTN2-related cardiac and skeletal myopathy		
http://purl.obolibrary.org/obo/MONDO_0700381	macular dystrophy, retinal, 5	http://purl.obolibrary.org/obo/MONDO_0031166	macular dystrophy, retinal		
http://purl.obolibrary.org/obo/MONDO_0033549	optic atrophy 12	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0014571	optic atrophy 9	http://purl.obolibrary.org/obo/MONDO_1060120	ACO2-related optic atrophy with or without extraocular features		
http://purl.obolibrary.org/obo/MONDO_0032772	brain abnormalities, neurodegeneration, and dysosteosclerosis	http://purl.obolibrary.org/obo/MONDO_0100632	CSF1R-related disorder		
http://purl.obolibrary.org/obo/MONDO_0859526	immunodeficiency 109 with lymphoproliferation	http://purl.obolibrary.org/obo/MONDO_0700308	TNFRSF9-related immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0976229	immunodeficiency 131	http://purl.obolibrary.org/obo/MONDO_0700327	IRF4-related immune disorder		
http://purl.obolibrary.org/obo/MONDO_0978306	isolated duodenal duplication	http://purl.obolibrary.org/obo/MONDO_0971086	small intestine duplication		
http://purl.obolibrary.org/obo/MONDO_0978307	isolated jejuno-ileal duplication	http://purl.obolibrary.org/obo/MONDO_0971086	small intestine duplication		
http://purl.obolibrary.org/obo/NCBITaxon_194440	Primate T-lymphotropic virus 1	http://purl.obolibrary.org/obo/NCBITaxon_3428212	Deltaretrovirus priTlym1		
http://purl.obolibrary.org/obo/NCBITaxon_194441	Primate T-lymphotropic virus 2	http://purl.obolibrary.org/obo/NCBITaxon_3428213	Deltaretrovirus priTlym2		
http://purl.obolibrary.org/obo/NCBITaxon_2169701	Onyong-nyong virus	http://purl.obolibrary.org/obo/NCBITaxon_3426312	Alphavirus onyong		
http://purl.obolibrary.org/obo/NCBITaxon_694009	Severe acute respiratory syndrome-related coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_3418604	Betacoronavirus pandemicum		
http://purl.obolibrary.org/obo/NCBITaxon_2697049	Severe acute respiratory syndrome coronavirus 2	http://purl.obolibrary.org/obo/NCBITaxon_3418604	Betacoronavirus pandemicum		
http://purl.obolibrary.org/obo/NCBITaxon_2732529	Tectiliviricetes	http://purl.obolibrary.org/obo/NCBITaxon_3412695	Prepoliviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_2732541	Reovirales	http://purl.obolibrary.org/obo/NCBITaxon_2788829	unclassified Resentoviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732559	Rowavirales	http://purl.obolibrary.org/obo/NCBITaxon_3412727	Pharingeaviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2748762	Colorado tick fever coltivirus	http://purl.obolibrary.org/obo/NCBITaxon_3428066	Coltivirus dermacentoris		
http://purl.obolibrary.org/obo/NCBITaxon_8957	Astur gentilis	http://purl.obolibrary.org/obo/NCBITaxon_3410462	Astur		
http://purl.obolibrary.org/obo/NCBITaxon_3412727	Pharingeaviricetes	http://purl.obolibrary.org/obo/NCBITaxon_3412694	Polisuviricotina		
http://purl.obolibrary.org/obo/NCBITaxon_37124	Chikungunya virus	http://purl.obolibrary.org/obo/NCBITaxon_3426298	Alphavirus chikungunya		
http://purl.obolibrary.org/obo/NCBITaxon_694014	Avian coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_3433766	Gammacoronavirus galli		
http://purl.obolibrary.org/obo/NCBITaxon_693997	Alphacoronavirus 1	http://purl.obolibrary.org/obo/NCBITaxon_3433814	Alphacoronavirus suis		
http://purl.obolibrary.org/obo/MONDO_0700108	prion disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700049	infectious disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0700109	skin disease caused by bacterial infection, non-human animal	http://purl.obolibrary.org/obo/MONDO_0700050	bacterial infectious disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_7770280	aortic valve hypoplasia, cattle	http://purl.obolibrary.org/obo/MONDO_1013069	heart valve disorder, non-human animal		
http://purl.obolibrary.org/obo/GO_0012501	programmed cell death	http://purl.obolibrary.org/obo/GO_0008219	cell death		
http://purl.obolibrary.org/obo/GO_0004175	endopeptidase activity	http://purl.obolibrary.org/obo/GO_0008233	peptidase activity		
http://purl.obolibrary.org/obo/GO_0004176	ATP-dependent peptidase activity	http://purl.obolibrary.org/obo/GO_0140657	ATP-dependent activity		
http://purl.obolibrary.org/obo/GO_0008236	serine-type peptidase activity	http://purl.obolibrary.org/obo/GO_0017171	serine hydrolase activity		
http://purl.obolibrary.org/obo/GO_0008238	exopeptidase activity	http://purl.obolibrary.org/obo/GO_0008233	peptidase activity		
http://purl.obolibrary.org/obo/GO_0070003	threonine-type peptidase activity	http://purl.obolibrary.org/obo/GO_0008233	peptidase activity		
http://purl.obolibrary.org/obo/GO_0008242	omega peptidase activity	http://purl.obolibrary.org/obo/GO_0008233	peptidase activity		
http://purl.obolibrary.org/obo/GO_0032291	axon ensheathment in central nervous system	http://purl.obolibrary.org/obo/GO_0008366	axon ensheathment		
http://purl.obolibrary.org/obo/GO_0032292	peripheral nervous system axon ensheathment	http://purl.obolibrary.org/obo/GO_0008366	axon ensheathment		
http://purl.obolibrary.org/obo/GO_0042552	myelination	http://purl.obolibrary.org/obo/GO_0008366	axon ensheathment		
http://purl.obolibrary.org/obo/GO_1904659	D-glucose transmembrane transport	http://purl.obolibrary.org/obo/GO_0008645	hexose transmembrane transport		
http://purl.obolibrary.org/obo/GO_0042362	fat-soluble vitamin biosynthetic process	http://purl.obolibrary.org/obo/GO_0009110	vitamin biosynthetic process		
http://purl.obolibrary.org/obo/GO_0042364	water-soluble vitamin biosynthetic process	http://purl.obolibrary.org/obo/GO_0009110	vitamin biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009124	nucleoside monophosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_1901293	nucleoside phosphate biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009126	purine nucleoside monophosphate metabolic process	http://purl.obolibrary.org/obo/GO_0009123	nucleoside monophosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009127	purine nucleoside monophosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009126	purine nucleoside monophosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009156	ribonucleoside monophosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009124	nucleoside monophosphate biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009167	purine ribonucleoside monophosphate metabolic process	http://purl.obolibrary.org/obo/GO_0009126	purine nucleoside monophosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009168	purine ribonucleoside monophosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009167	purine ribonucleoside monophosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009137	purine nucleoside diphosphate catabolic process	http://purl.obolibrary.org/obo/GO_0009135	purine nucleoside diphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009191	ribonucleoside diphosphate catabolic process	http://purl.obolibrary.org/obo/GO_0009185	ribonucleoside diphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009179	purine ribonucleoside diphosphate metabolic process	http://purl.obolibrary.org/obo/GO_0009185	ribonucleoside diphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009181	purine ribonucleoside diphosphate catabolic process	http://purl.obolibrary.org/obo/GO_0009191	ribonucleoside diphosphate catabolic process		
http://purl.obolibrary.org/obo/GO_0009142	nucleoside triphosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_1901293	nucleoside phosphate biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009144	purine nucleoside triphosphate metabolic process	http://purl.obolibrary.org/obo/GO_0009141	nucleoside triphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009145	purine nucleoside triphosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009144	purine nucleoside triphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009201	ribonucleoside triphosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009142	nucleoside triphosphate biosynthetic process		
http://purl.obolibrary.org/obo/GO_0009205	purine ribonucleoside triphosphate metabolic process	http://purl.obolibrary.org/obo/GO_0009144	purine nucleoside triphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0009206	purine ribonucleoside triphosphate biosynthetic process	http://purl.obolibrary.org/obo/GO_0009205	purine ribonucleoside triphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0046031	ADP metabolic process	http://purl.obolibrary.org/obo/GO_0009179	purine ribonucleoside diphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0046034	ATP metabolic process	http://purl.obolibrary.org/obo/GO_0009205	purine ribonucleoside triphosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0006576	biogenic amine metabolic process	http://purl.obolibrary.org/obo/GO_0009308	amine metabolic process		
http://purl.obolibrary.org/obo/GO_0030416	methylamine metabolic process	http://purl.obolibrary.org/obo/GO_0009308	amine metabolic process		
http://purl.obolibrary.org/obo/GO_0009416	response to light stimulus	http://purl.obolibrary.org/obo/GO_0009314	response to radiation		
http://purl.obolibrary.org/obo/GO_0071478	cellular response to radiation	http://purl.obolibrary.org/obo/GO_0071214	cellular response to abiotic stimulus		
http://purl.obolibrary.org/obo/GO_0034644	cellular response to UV	http://purl.obolibrary.org/obo/GO_0071482	cellular response to light stimulus		
http://purl.obolibrary.org/obo/GO_0050981	detection of electrical stimulus	http://purl.obolibrary.org/obo/GO_0051602	response to electrical stimulus		
http://purl.obolibrary.org/obo/GO_0071495	cellular response to endogenous stimulus	http://purl.obolibrary.org/obo/GO_0009719	response to endogenous stimulus		
http://purl.obolibrary.org/obo/GO_0048545	response to steroid hormone	http://purl.obolibrary.org/obo/GO_0033993	response to lipid		
http://purl.obolibrary.org/obo/GO_0034284	response to monosaccharide	http://purl.obolibrary.org/obo/GO_0009743	response to carbohydrate		
http://purl.obolibrary.org/obo/GO_0009749	response to glucose	http://purl.obolibrary.org/obo/GO_0009746	response to hexose		
http://purl.obolibrary.org/obo/GO_0071331	cellular response to hexose stimulus	http://purl.obolibrary.org/obo/GO_0071326	cellular response to monosaccharide stimulus		
http://purl.obolibrary.org/obo/GO_0009792	embryo development ending in birth or egg hatching	http://purl.obolibrary.org/obo/GO_0009790	embryo development		
http://purl.obolibrary.org/obo/GO_1903786	regulation of glutathione biosynthetic process	http://purl.obolibrary.org/obo/GO_0042762	regulation of sulfur metabolic process		
http://purl.obolibrary.org/obo/GO_0009890	negative regulation of biosynthetic process	http://purl.obolibrary.org/obo/GO_0009892	negative regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0009891	positive regulation of biosynthetic process	http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0010511	regulation of phosphatidylinositol biosynthetic process	http://purl.obolibrary.org/obo/GO_0051174	regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0010512	negative regulation of phosphatidylinositol biosynthetic process	http://purl.obolibrary.org/obo/GO_0010563	negative regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0010513	positive regulation of phosphatidylinositol biosynthetic process	http://purl.obolibrary.org/obo/GO_0010562	positive regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0106122	negative regulation of cobalamin metabolic process	http://purl.obolibrary.org/obo/GO_0106064	regulation of cobalamin metabolic process		
http://purl.obolibrary.org/obo/GO_0009895	negative regulation of catabolic process	http://purl.obolibrary.org/obo/GO_0009894	regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0010563	negative regulation of phosphorus metabolic process	http://purl.obolibrary.org/obo/GO_0051174	regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0106121	positive regulation of cobalamin metabolic process	http://purl.obolibrary.org/obo/GO_0106064	regulation of cobalamin metabolic process		
http://purl.obolibrary.org/obo/GO_0009896	positive regulation of catabolic process	http://purl.obolibrary.org/obo/GO_0009894	regulation of catabolic process		
http://purl.obolibrary.org/obo/GO_0010562	positive regulation of phosphorus metabolic process	http://purl.obolibrary.org/obo/GO_0051174	regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0010455	positive regulation of cell fate commitment	http://purl.obolibrary.org/obo/GO_0045597	positive regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0010951	negative regulation of endopeptidase activity	http://purl.obolibrary.org/obo/GO_0052548	regulation of endopeptidase activity		
http://purl.obolibrary.org/obo/GO_1902572	negative regulation of serine-type peptidase activity	http://purl.obolibrary.org/obo/GO_0010466	negative regulation of peptidase activity		
http://purl.obolibrary.org/obo/GO_1904098	regulation of protein O-linked glycosylation	http://purl.obolibrary.org/obo/GO_0010559	regulation of glycoprotein biosynthetic process		
http://purl.obolibrary.org/obo/GO_0045937	positive regulation of phosphate metabolic process	http://purl.obolibrary.org/obo/GO_0010562	positive regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0045936	negative regulation of phosphate metabolic process	http://purl.obolibrary.org/obo/GO_0010563	negative regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_1902117	positive regulation of organelle assembly	http://purl.obolibrary.org/obo/GO_1902115	regulation of organelle assembly		
http://purl.obolibrary.org/obo/GO_1902116	negative regulation of organelle assembly	http://purl.obolibrary.org/obo/GO_1902115	regulation of organelle assembly		
http://purl.obolibrary.org/obo/GO_0010770	positive regulation of cell morphogenesis	http://purl.obolibrary.org/obo/GO_0022604	regulation of cell morphogenesis		
http://purl.obolibrary.org/obo/GO_0010771	negative regulation of cell morphogenesis	http://purl.obolibrary.org/obo/GO_0022604	regulation of cell morphogenesis		
http://purl.obolibrary.org/obo/GO_0046324	regulation of D-glucose import across plasma membrane	http://purl.obolibrary.org/obo/GO_0010827	regulation of D-glucose transmembrane transport		
http://purl.obolibrary.org/obo/GO_0010884	positive regulation of lipid storage	http://purl.obolibrary.org/obo/GO_1905954	positive regulation of lipid localization		
http://purl.obolibrary.org/obo/GO_0010889	regulation of triglyceride storage	http://purl.obolibrary.org/obo/GO_0010883	regulation of lipid storage		
http://purl.obolibrary.org/obo/GO_0010890	positive regulation of triglyceride storage	http://purl.obolibrary.org/obo/GO_0010889	regulation of triglyceride storage		
http://purl.obolibrary.org/obo/GO_0010891	negative regulation of triglyceride storage	http://purl.obolibrary.org/obo/GO_0010889	regulation of triglyceride storage		
http://purl.obolibrary.org/obo/GO_0106120	positive regulation of sterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0106118	regulation of sterol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010957	negative regulation of vitamin D biosynthetic process	http://purl.obolibrary.org/obo/GO_0060556	regulation of vitamin D biosynthetic process		
http://purl.obolibrary.org/obo/GO_0106119	negative regulation of sterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0106118	regulation of sterol biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010922	positive regulation of phosphatase activity	http://purl.obolibrary.org/obo/GO_0051345	positive regulation of hydrolase activity		
http://purl.obolibrary.org/obo/GO_0010923	negative regulation of phosphatase activity	http://purl.obolibrary.org/obo/GO_0051346	negative regulation of hydrolase activity		
http://purl.obolibrary.org/obo/GO_0010950	positive regulation of endopeptidase activity	http://purl.obolibrary.org/obo/GO_0052548	regulation of endopeptidase activity		
http://purl.obolibrary.org/obo/GO_0010976	positive regulation of neuron projection development	http://purl.obolibrary.org/obo/GO_0031346	positive regulation of cell projection organization		
http://purl.obolibrary.org/obo/GO_0030659	cytoplasmic vesicle membrane	http://purl.obolibrary.org/obo/GO_0012506	vesicle membrane		
http://purl.obolibrary.org/obo/GO_0045686	negative regulation of glial cell differentiation	http://purl.obolibrary.org/obo/GO_0045685	regulation of glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0045687	positive regulation of glial cell differentiation	http://purl.obolibrary.org/obo/GO_0045685	regulation of glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0014039	negative regulation of Schwann cell differentiation	http://purl.obolibrary.org/obo/GO_0045686	negative regulation of glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0014040	positive regulation of Schwann cell differentiation	http://purl.obolibrary.org/obo/GO_0045687	positive regulation of glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0014058	negative regulation of acetylcholine secretion, neurotransmission	http://purl.obolibrary.org/obo/GO_0051953	negative regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0033602	negative regulation of dopamine secretion	http://purl.obolibrary.org/obo/GO_0033604	negative regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0033603	positive regulation of dopamine secretion	http://purl.obolibrary.org/obo/GO_0033605	positive regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0032811	negative regulation of epinephrine secretion	http://purl.obolibrary.org/obo/GO_0033604	negative regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0032812	positive regulation of epinephrine secretion	http://purl.obolibrary.org/obo/GO_0033605	positive regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0010700	negative regulation of norepinephrine secretion	http://purl.obolibrary.org/obo/GO_0033604	negative regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0010701	positive regulation of norepinephrine secretion	http://purl.obolibrary.org/obo/GO_0033605	positive regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0014852	regulation of skeletal muscle contraction by neural stimulation via neuromuscular junction	http://purl.obolibrary.org/obo/GO_0014819	regulation of skeletal muscle contraction		
http://purl.obolibrary.org/obo/GO_0014861	regulation of skeletal muscle contraction via regulation of action potential	http://purl.obolibrary.org/obo/GO_0098900	regulation of action potential		
http://purl.obolibrary.org/obo/GO_0030432	peristalsis	http://purl.obolibrary.org/obo/GO_0014821	phasic smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0060083	smooth muscle contraction involved in micturition	http://purl.obolibrary.org/obo/GO_0014832	urinary bladder smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0014832	urinary bladder smooth muscle contraction	http://purl.obolibrary.org/obo/GO_0014848	urinary tract smooth muscle contraction		
http://purl.obolibrary.org/obo/GO_0015152	glucose-6-phosphate transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015119	hexose phosphate transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0051119	sugar transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015144	carbohydrate transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015149	hexose transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015145	monosaccharide transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0022829	wide pore channel activity	http://purl.obolibrary.org/obo/GO_0015267	channel activity		
http://purl.obolibrary.org/obo/GO_0022836	gated channel activity	http://purl.obolibrary.org/obo/GO_0015267	channel activity		
http://purl.obolibrary.org/obo/GO_0042626	ATPase-coupled transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0140657	ATP-dependent activity		
http://purl.obolibrary.org/obo/GO_0015451	decarboxylation-driven active transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015399	primary active transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015452	methyl transfer-driven active transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015399	primary active transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015453	oxidoreduction-driven active transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015399	primary active transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015671	oxygen transport	http://purl.obolibrary.org/obo/GO_0015669	gas transport		
http://purl.obolibrary.org/obo/GO_0048241	epinephrine transport	http://purl.obolibrary.org/obo/GO_0051937	catecholamine transport		
http://purl.obolibrary.org/obo/GO_0015874	norepinephrine transport	http://purl.obolibrary.org/obo/GO_0051937	catecholamine transport		
http://purl.obolibrary.org/obo/GO_0008645	hexose transmembrane transport	http://purl.obolibrary.org/obo/GO_0015749	monosaccharide transmembrane transport		
http://purl.obolibrary.org/obo/GO_0008203	cholesterol metabolic process	http://purl.obolibrary.org/obo/GO_1902652	secondary alcohol metabolic process		
http://purl.obolibrary.org/obo/GO_0055024	regulation of cardiac muscle tissue development	http://purl.obolibrary.org/obo/GO_0016202	regulation of striated muscle tissue development		
http://purl.obolibrary.org/obo/GO_0042405	nuclear inclusion body	http://purl.obolibrary.org/obo/GO_0016234	inclusion body		
http://purl.obolibrary.org/obo/GO_0099106	ion channel regulator activity	http://purl.obolibrary.org/obo/GO_0016247	channel regulator activity		
http://purl.obolibrary.org/obo/GO_0099103	channel activator activity	http://purl.obolibrary.org/obo/GO_0141109	transporter activator activity		
http://purl.obolibrary.org/obo/GO_0016248	channel inhibitor activity	http://purl.obolibrary.org/obo/GO_0141110	transporter inhibitor activity		
http://purl.obolibrary.org/obo/GO_0016505	peptidase activator activity involved in apoptotic process	http://purl.obolibrary.org/obo/GO_0016504	peptidase activator activity		
http://purl.obolibrary.org/obo/GO_0016670	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	http://purl.obolibrary.org/obo/GO_0016667	oxidoreductase activity, acting on a sulfur group of donors		
http://purl.obolibrary.org/obo/GO_0016672	oxidoreductase activity, acting on a sulfur group of donors, quinone or similar compound as acceptor	http://purl.obolibrary.org/obo/GO_0016667	oxidoreductase activity, acting on a sulfur group of donors		
http://purl.obolibrary.org/obo/GO_0070224	sulfide:quinone oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0016672	oxidoreductase activity, acting on a sulfur group of donors, quinone or similar compound as acceptor		
http://purl.obolibrary.org/obo/GO_0070330	aromatase activity	http://purl.obolibrary.org/obo/GO_0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen		
http://purl.obolibrary.org/obo/GO_0016747	acyltransferase activity, transferring groups other than amino-acyl groups	http://purl.obolibrary.org/obo/GO_0016746	acyltransferase activity		
http://purl.obolibrary.org/obo/GO_0016755	aminoacyltransferase activity	http://purl.obolibrary.org/obo/GO_0016746	acyltransferase activity		
http://purl.obolibrary.org/obo/GO_0008373	sialyltransferase activity	http://purl.obolibrary.org/obo/GO_0016757	glycosyltransferase activity		
http://purl.obolibrary.org/obo/GO_0008483	transaminase activity	http://purl.obolibrary.org/obo/GO_0016769	transferase activity, transferring nitrogenous groups		
http://purl.obolibrary.org/obo/GO_0016301	kinase activity	http://purl.obolibrary.org/obo/GO_0016772	transferase activity, transferring phosphorus-containing groups		
http://purl.obolibrary.org/obo/GO_0016773	phosphotransferase activity, alcohol group as acceptor	http://purl.obolibrary.org/obo/GO_0016772	transferase activity, transferring phosphorus-containing groups		
http://purl.obolibrary.org/obo/GO_0016774	phosphotransferase activity, carboxyl group as acceptor	http://purl.obolibrary.org/obo/GO_0016772	transferase activity, transferring phosphorus-containing groups		
http://purl.obolibrary.org/obo/GO_0016778	diphosphotransferase activity	http://purl.obolibrary.org/obo/GO_0016772	transferase activity, transferring phosphorus-containing groups		
http://purl.obolibrary.org/obo/GO_0061547	glycogen synthase activity, transferring glucose-1-phosphate	http://purl.obolibrary.org/obo/GO_0016772	transferase activity, transferring phosphorus-containing groups		
http://purl.obolibrary.org/obo/GO_0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	http://purl.obolibrary.org/obo/GO_0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds		
http://purl.obolibrary.org/obo/GO_0016812	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	http://purl.obolibrary.org/obo/GO_0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds		
http://purl.obolibrary.org/obo/GO_0016814	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	http://purl.obolibrary.org/obo/GO_0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds		
http://purl.obolibrary.org/obo/GO_0019239	deaminase activity	http://purl.obolibrary.org/obo/GO_0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds		
http://purl.obolibrary.org/obo/GO_0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	http://purl.obolibrary.org/obo/GO_0016817	hydrolase activity, acting on acid anhydrides		
http://purl.obolibrary.org/obo/GO_0016250	N-sulfoglucosamine sulfohydrolase activity	http://purl.obolibrary.org/obo/GO_0016826	hydrolase activity, acting on sulfur-nitrogen bonds		
http://purl.obolibrary.org/obo/GO_0016842	amidine-lyase activity	http://purl.obolibrary.org/obo/GO_0016840	carbon-nitrogen lyase activity		
http://purl.obolibrary.org/obo/GO_0004336	galactosylceramidase activity	http://purl.obolibrary.org/obo/GO_0017042	glycosylceramidase activity		
http://purl.obolibrary.org/obo/GO_0004348	glucosylceramidase activity	http://purl.obolibrary.org/obo/GO_0017042	glycosylceramidase activity		
http://purl.obolibrary.org/obo/GO_0048103	somatic stem cell division	http://purl.obolibrary.org/obo/GO_0017145	stem cell division		
http://purl.obolibrary.org/obo/GO_0019887	protein kinase regulator activity	http://purl.obolibrary.org/obo/GO_0019207	kinase regulator activity		
http://purl.obolibrary.org/obo/GO_0010565	regulation of ketone metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0033238	regulation of amine metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0080090	regulation of primary metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0062012	regulation of small molecule metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0043467	regulation of generation of precursor metabolites and energy	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0060255	regulation of macromolecule metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_1903314	regulation of nitrogen cycle metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_1901401	regulation of tetrapyrrole metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0009889	regulation of biosynthetic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0009893	positive regulation of metabolic process	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0009894	regulation of catabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0042762	regulation of sulfur metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0051174	regulation of phosphorus metabolic process	http://purl.obolibrary.org/obo/GO_0019222	regulation of metabolic process		
http://purl.obolibrary.org/obo/GO_0030730	triglyceride storage	http://purl.obolibrary.org/obo/GO_0019915	lipid storage		
http://purl.obolibrary.org/obo/GO_0014003	oligodendrocyte development	http://purl.obolibrary.org/obo/GO_0021782	glial cell development		
http://purl.obolibrary.org/obo/GO_0014044	Schwann cell development	http://purl.obolibrary.org/obo/GO_0021782	glial cell development		
http://purl.obolibrary.org/obo/GO_0015267	channel activity	http://purl.obolibrary.org/obo/GO_0022803	passive transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015291	secondary active transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022804	active transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0015399	primary active transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022804	active transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0022839	monoatomic ion-gated channel activity	http://purl.obolibrary.org/obo/GO_0022834	ligand-gated channel activity		
http://purl.obolibrary.org/obo/GO_0048018	receptor ligand activity	http://purl.obolibrary.org/obo/GO_0030546	signaling receptor activator activity		
http://purl.obolibrary.org/obo/GO_0019866	organelle inner membrane	http://purl.obolibrary.org/obo/GO_0031090	organelle membrane		
http://purl.obolibrary.org/obo/GO_0031965	nuclear membrane	http://purl.obolibrary.org/obo/GO_0031090	organelle membrane		
http://purl.obolibrary.org/obo/GO_0031966	mitochondrial membrane	http://purl.obolibrary.org/obo/GO_0031090	organelle membrane		
http://purl.obolibrary.org/obo/GO_0098588	bounding membrane of organelle	http://purl.obolibrary.org/obo/GO_0031090	organelle membrane		
http://purl.obolibrary.org/obo/GO_0012506	vesicle membrane	http://purl.obolibrary.org/obo/GO_0031090	organelle membrane		
http://purl.obolibrary.org/obo/GO_0031345	negative regulation of cell projection organization	http://purl.obolibrary.org/obo/GO_0051129	negative regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0031346	positive regulation of cell projection organization	http://purl.obolibrary.org/obo/GO_0051130	positive regulation of cellular component organization		
http://purl.obolibrary.org/obo/GO_0120035	regulation of plasma membrane bounded cell projection organization	http://purl.obolibrary.org/obo/GO_0031344	regulation of cell projection organization		
http://purl.obolibrary.org/obo/GO_0120034	positive regulation of plasma membrane bounded cell projection assembly	http://purl.obolibrary.org/obo/GO_0120032	regulation of plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_0010185	regulation of cellular defense response	http://purl.obolibrary.org/obo/GO_0031347	regulation of defense response		
http://purl.obolibrary.org/obo/GO_0097729	9+2 motile cilium	http://purl.obolibrary.org/obo/GO_0031514	motile cilium		
http://purl.obolibrary.org/obo/GO_0010892	positive regulation of mitochondrial translation in response to stress	http://purl.obolibrary.org/obo/GO_0070131	positive regulation of mitochondrial translation		
http://purl.obolibrary.org/obo/GO_0032880	regulation of protein localization	http://purl.obolibrary.org/obo/GO_0032879	regulation of localization		
http://purl.obolibrary.org/obo/GO_0051049	regulation of transport	http://purl.obolibrary.org/obo/GO_0032879	regulation of localization		
http://purl.obolibrary.org/obo/GO_1905952	regulation of lipid localization	http://purl.obolibrary.org/obo/GO_0032879	regulation of localization		
http://purl.obolibrary.org/obo/GO_0010962	regulation of glucan biosynthetic process	http://purl.obolibrary.org/obo/GO_0032885	regulation of polysaccharide biosynthetic process		
http://purl.obolibrary.org/obo/GO_1900125	regulation of hyaluronan biosynthetic process	http://purl.obolibrary.org/obo/GO_0032885	regulation of polysaccharide biosynthetic process		
http://purl.obolibrary.org/obo/GO_0015749	monosaccharide transmembrane transport	http://purl.obolibrary.org/obo/GO_0034219	carbohydrate transmembrane transport		
http://purl.obolibrary.org/obo/GO_0009746	response to hexose	http://purl.obolibrary.org/obo/GO_0034284	response to monosaccharide		
http://purl.obolibrary.org/obo/GO_0071326	cellular response to monosaccharide stimulus	http://purl.obolibrary.org/obo/GO_0071322	cellular response to carbohydrate stimulus		
http://purl.obolibrary.org/obo/GO_0071830	triglyceride-rich lipoprotein particle clearance	http://purl.obolibrary.org/obo/GO_0034381	plasma lipoprotein particle clearance		
http://purl.obolibrary.org/obo/GO_0010921	regulation of phosphatase activity	http://purl.obolibrary.org/obo/GO_0051336	regulation of hydrolase activity		
http://purl.obolibrary.org/obo/GO_0035305	negative regulation of dephosphorylation	http://purl.obolibrary.org/obo/GO_0045936	negative regulation of phosphate metabolic process		
http://purl.obolibrary.org/obo/GO_0045187	regulation of circadian sleep/wake cycle, sleep	http://purl.obolibrary.org/obo/GO_0042749	regulation of circadian sleep/wake cycle		
http://purl.obolibrary.org/obo/GO_0008614	pyridoxine metabolic process	http://purl.obolibrary.org/obo/GO_0042816	vitamin B6 metabolic process		
http://purl.obolibrary.org/obo/GO_0042981	regulation of apoptotic process	http://purl.obolibrary.org/obo/GO_0043067	regulation of programmed cell death		
http://purl.obolibrary.org/obo/GO_0043068	positive regulation of programmed cell death	http://purl.obolibrary.org/obo/GO_0048522	positive regulation of cellular process		
http://purl.obolibrary.org/obo/GO_0044070	regulation of monoatomic anion transport	http://purl.obolibrary.org/obo/GO_0043269	regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0010959	regulation of metal ion transport	http://purl.obolibrary.org/obo/GO_0043269	regulation of monoatomic ion transport		
http://purl.obolibrary.org/obo/GO_0043270	positive regulation of monoatomic ion transport	http://purl.obolibrary.org/obo/GO_0051050	positive regulation of transport		
http://purl.obolibrary.org/obo/GO_0043271	negative regulation of monoatomic ion transport	http://purl.obolibrary.org/obo/GO_0051051	negative regulation of transport		
http://purl.obolibrary.org/obo/GO_0051928	positive regulation of calcium ion transport	http://purl.obolibrary.org/obo/GO_0051924	regulation of calcium ion transport		
http://purl.obolibrary.org/obo/GO_0051926	negative regulation of calcium ion transport	http://purl.obolibrary.org/obo/GO_0051924	regulation of calcium ion transport		
http://purl.obolibrary.org/obo/GO_0022613	ribonucleoprotein complex biogenesis	http://purl.obolibrary.org/obo/GO_0044085	cellular component biogenesis		
http://purl.obolibrary.org/obo/GO_0044111	formation of structure involved in a symbiotic process	http://purl.obolibrary.org/obo/GO_0044419	biological process involved in interspecies interaction between organisms		
http://purl.obolibrary.org/obo/GO_0044403	biological process involved in symbiotic interaction	http://purl.obolibrary.org/obo/GO_0044419	biological process involved in interspecies interaction between organisms		
http://purl.obolibrary.org/obo/GO_0046545	development of primary female sexual characteristics	http://purl.obolibrary.org/obo/GO_0045137	development of primary sexual characteristics		
http://purl.obolibrary.org/obo/GO_0035592	establishment of protein localization to extracellular region	http://purl.obolibrary.org/obo/GO_0045184	establishment of protein localization		
http://purl.obolibrary.org/obo/GO_0009060	aerobic respiration	http://purl.obolibrary.org/obo/GO_0045333	cellular respiration		
http://purl.obolibrary.org/obo/GO_1905207	regulation of cardiocyte differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_2000736	regulation of stem cell differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0045598	regulation of fat cell differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0045667	regulation of osteoblast differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0051147	regulation of muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_1901532	regulation of hematopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_2001212	regulation of vasculogenesis	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0045664	regulation of neuron differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0045685	regulation of glial cell differentiation	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0060284	regulation of cell development	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0060786	regulation of cell differentiation involved in tissue homeostasis	http://purl.obolibrary.org/obo/GO_0045595	regulation of cell differentiation		
http://purl.obolibrary.org/obo/GO_0010720	positive regulation of cell development	http://purl.obolibrary.org/obo/GO_0060284	regulation of cell development		
http://purl.obolibrary.org/obo/GO_0045666	positive regulation of neuron differentiation	http://purl.obolibrary.org/obo/GO_0045664	regulation of neuron differentiation		
http://purl.obolibrary.org/obo/GO_0048713	regulation of oligodendrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045685	regulation of glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0014038	regulation of Schwann cell differentiation	http://purl.obolibrary.org/obo/GO_0045685	regulation of glial cell differentiation		
http://purl.obolibrary.org/obo/GO_0070131	positive regulation of mitochondrial translation	http://purl.obolibrary.org/obo/GO_0070129	regulation of mitochondrial translation		
http://purl.obolibrary.org/obo/GO_0016525	negative regulation of angiogenesis	http://purl.obolibrary.org/obo/GO_2000181	negative regulation of blood vessel morphogenesis		
http://purl.obolibrary.org/obo/GO_0010466	negative regulation of peptidase activity	http://purl.obolibrary.org/obo/GO_0052547	regulation of peptidase activity		
http://purl.obolibrary.org/obo/GO_0010955	negative regulation of protein processing	http://purl.obolibrary.org/obo/GO_1903318	negative regulation of protein maturation		
http://purl.obolibrary.org/obo/GO_0010954	positive regulation of protein processing	http://purl.obolibrary.org/obo/GO_1903319	positive regulation of protein maturation		
http://purl.obolibrary.org/obo/GO_0010952	positive regulation of peptidase activity	http://purl.obolibrary.org/obo/GO_0052547	regulation of peptidase activity		
http://purl.obolibrary.org/obo/GO_0010894	negative regulation of steroid biosynthetic process	http://purl.obolibrary.org/obo/GO_0051055	negative regulation of lipid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0010893	positive regulation of steroid biosynthetic process	http://purl.obolibrary.org/obo/GO_0050810	regulation of steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0170040	proteinogenic amino acid catabolic process	http://purl.obolibrary.org/obo/GO_0170039	proteinogenic amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0170044	non-proteinogenic amino acid catabolic process	http://purl.obolibrary.org/obo/GO_0170041	non-proteinogenic amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0015085	calcium ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0046873	metal ion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0046915	transition metal ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0046873	metal ion transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0047865	dimethylglycine dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0046997	oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor		
http://purl.obolibrary.org/obo/GO_0008480	sarcosine dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0046997	oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor		
http://purl.obolibrary.org/obo/GO_2000253	positive regulation of feeding behavior	http://purl.obolibrary.org/obo/GO_0060259	regulation of feeding behavior		
http://purl.obolibrary.org/obo/GO_0016202	regulation of striated muscle tissue development	http://purl.obolibrary.org/obo/GO_1901861	regulation of muscle tissue development		
http://purl.obolibrary.org/obo/GO_0014032	neural crest cell development	http://purl.obolibrary.org/obo/GO_0048864	stem cell development		
http://purl.obolibrary.org/obo/GO_0050801	monoatomic ion homeostasis	http://purl.obolibrary.org/obo/GO_0048878	chemical homeostasis		
http://purl.obolibrary.org/obo/GO_0033500	carbohydrate homeostasis	http://purl.obolibrary.org/obo/GO_0048878	chemical homeostasis		
http://purl.obolibrary.org/obo/GO_0055088	lipid homeostasis	http://purl.obolibrary.org/obo/GO_0048878	chemical homeostasis		
http://purl.obolibrary.org/obo/GO_0098771	inorganic ion homeostasis	http://purl.obolibrary.org/obo/GO_0048878	chemical homeostasis		
http://purl.obolibrary.org/obo/GO_0014059	regulation of dopamine secretion	http://purl.obolibrary.org/obo/GO_0050433	regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0014060	regulation of epinephrine secretion	http://purl.obolibrary.org/obo/GO_0050433	regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0014061	regulation of norepinephrine secretion	http://purl.obolibrary.org/obo/GO_0050433	regulation of catecholamine secretion		
http://purl.obolibrary.org/obo/GO_0016175	superoxide-generating NAD(P)H oxidase activity	http://purl.obolibrary.org/obo/GO_0050664	oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor		
http://purl.obolibrary.org/obo/GO_0014013	regulation of gliogenesis	http://purl.obolibrary.org/obo/GO_0050767	regulation of neurogenesis		
http://purl.obolibrary.org/obo/GO_0051338	regulation of transferase activity	http://purl.obolibrary.org/obo/GO_0050790	regulation of catalytic activity		
http://purl.obolibrary.org/obo/GO_0051336	regulation of hydrolase activity	http://purl.obolibrary.org/obo/GO_0050790	regulation of catalytic activity		
http://purl.obolibrary.org/obo/GO_0051341	regulation of oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0050790	regulation of catalytic activity		
http://purl.obolibrary.org/obo/GO_0106118	regulation of sterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0050810	regulation of steroid biosynthetic process		
http://purl.obolibrary.org/obo/GO_0032368	regulation of lipid transport	http://purl.obolibrary.org/obo/GO_1905952	regulation of lipid localization		
http://purl.obolibrary.org/obo/GO_0051588	regulation of neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_0051046	regulation of secretion	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_0090087	regulation of peptide transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_0032386	regulation of intracellular transport	http://purl.obolibrary.org/obo/GO_0060341	regulation of cellular localization		
http://purl.obolibrary.org/obo/GO_0032890	regulation of organic acid transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_0043269	regulation of monoatomic ion transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_0051952	regulation of amine transport	http://purl.obolibrary.org/obo/GO_0051049	regulation of transport		
http://purl.obolibrary.org/obo/GO_0051954	positive regulation of amine transport	http://purl.obolibrary.org/obo/GO_0051952	regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0051953	negative regulation of amine transport	http://purl.obolibrary.org/obo/GO_0051952	regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0071072	negative regulation of phospholipid biosynthetic process	http://purl.obolibrary.org/obo/GO_1903726	negative regulation of phospholipid metabolic process		
http://purl.obolibrary.org/obo/GO_1905154	negative regulation of membrane invagination	http://purl.obolibrary.org/obo/GO_1905153	regulation of membrane invagination		
http://purl.obolibrary.org/obo/GO_1905155	positive regulation of membrane invagination	http://purl.obolibrary.org/obo/GO_1905153	regulation of membrane invagination		
http://purl.obolibrary.org/obo/GO_0042325	regulation of phosphorylation	http://purl.obolibrary.org/obo/GO_0051174	regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_0035303	regulation of dephosphorylation	http://purl.obolibrary.org/obo/GO_0051174	regulation of phosphorus metabolic process		
http://purl.obolibrary.org/obo/GO_1903771	positive regulation of beta-galactosidase activity	http://purl.obolibrary.org/obo/GO_0051345	positive regulation of hydrolase activity		
http://purl.obolibrary.org/obo/GO_1903770	negative regulation of beta-galactosidase activity	http://purl.obolibrary.org/obo/GO_0051346	negative regulation of hydrolase activity		
http://purl.obolibrary.org/obo/GO_0050906	detection of stimulus involved in sensory perception	http://purl.obolibrary.org/obo/GO_0051606	detection of stimulus		
http://purl.obolibrary.org/obo/GO_0009593	detection of chemical stimulus	http://purl.obolibrary.org/obo/GO_0051606	detection of stimulus		
http://purl.obolibrary.org/obo/GO_0051648	vesicle localization	http://purl.obolibrary.org/obo/GO_0051640	organelle localization		
http://purl.obolibrary.org/obo/GO_1903169	regulation of calcium ion transmembrane transport	http://purl.obolibrary.org/obo/GO_1904062	regulation of monoatomic cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0015872	dopamine transport	http://purl.obolibrary.org/obo/GO_0051937	catecholamine transport		
http://purl.obolibrary.org/obo/GO_0051955	regulation of amino acid transport	http://purl.obolibrary.org/obo/GO_0051952	regulation of amine transport		
http://purl.obolibrary.org/obo/GO_0052548	regulation of endopeptidase activity	http://purl.obolibrary.org/obo/GO_0052547	regulation of peptidase activity		
http://purl.obolibrary.org/obo/GO_1900003	regulation of serine-type endopeptidase activity	http://purl.obolibrary.org/obo/GO_0052548	regulation of endopeptidase activity		
http://purl.obolibrary.org/obo/GO_0055064	chloride ion homeostasis	http://purl.obolibrary.org/obo/GO_0098771	inorganic ion homeostasis		
http://purl.obolibrary.org/obo/GO_0055092	sterol homeostasis	http://purl.obolibrary.org/obo/GO_0055088	lipid homeostasis		
http://purl.obolibrary.org/obo/GO_1903429	regulation of cell maturation	http://purl.obolibrary.org/obo/GO_0060284	regulation of cell development		
http://purl.obolibrary.org/obo/GO_0048209	regulation of vesicle targeting, to, from or within Golgi	http://purl.obolibrary.org/obo/GO_0060341	regulation of cellular localization		
http://purl.obolibrary.org/obo/GO_0120032	regulation of plasma membrane bounded cell projection assembly	http://purl.obolibrary.org/obo/GO_0120035	regulation of plasma membrane bounded cell projection organization		
http://purl.obolibrary.org/obo/GO_0014706	striated muscle tissue development	http://purl.obolibrary.org/obo/GO_0060537	muscle tissue development		
http://purl.obolibrary.org/obo/GO_0061135	endopeptidase regulator activity	http://purl.obolibrary.org/obo/GO_0061134	peptidase regulator activity		
http://purl.obolibrary.org/obo/GO_0044092	negative regulation of molecular function	http://purl.obolibrary.org/obo/GO_0065009	regulation of molecular function		
http://purl.obolibrary.org/obo/GO_0044093	positive regulation of molecular function	http://purl.obolibrary.org/obo/GO_0065009	regulation of molecular function		
http://purl.obolibrary.org/obo/GO_0051098	regulation of binding	http://purl.obolibrary.org/obo/GO_0065009	regulation of molecular function		
http://purl.obolibrary.org/obo/GO_0043462	regulation of ATP-dependent activity	http://purl.obolibrary.org/obo/GO_0065009	regulation of molecular function		
http://purl.obolibrary.org/obo/GO_0050790	regulation of catalytic activity	http://purl.obolibrary.org/obo/GO_0065009	regulation of molecular function		
http://purl.obolibrary.org/obo/GO_0016043	cellular component organization	http://purl.obolibrary.org/obo/GO_0071840	cellular component organization or biogenesis		
http://purl.obolibrary.org/obo/GO_0044085	cellular component biogenesis	http://purl.obolibrary.org/obo/GO_0071840	cellular component organization or biogenesis		
http://purl.obolibrary.org/obo/GO_1903034	regulation of response to wounding	http://purl.obolibrary.org/obo/GO_0080134	regulation of response to stress		
http://purl.obolibrary.org/obo/GO_0031347	regulation of defense response	http://purl.obolibrary.org/obo/GO_0080134	regulation of response to stress		
http://purl.obolibrary.org/obo/GO_0032217	riboflavin transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0090482	vitamin transmembrane transporter activity		
http://purl.obolibrary.org/obo/GO_0097060	synaptic membrane	http://purl.obolibrary.org/obo/GO_0098590	plasma membrane region		
http://purl.obolibrary.org/obo/GO_0007159	leukocyte cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0098609	cell-cell adhesion		
http://purl.obolibrary.org/obo/GO_0140039	cell-cell adhesion in response to extracellular stimulus	http://purl.obolibrary.org/obo/GO_0098609	cell-cell adhesion		
http://purl.obolibrary.org/obo/GO_1902600	proton transmembrane transport	http://purl.obolibrary.org/obo/GO_0098655	monoatomic cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0014853	regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction	http://purl.obolibrary.org/obo/GO_0098815	modulation of excitatory postsynaptic potential		
http://purl.obolibrary.org/obo/GO_1902017	regulation of cilium assembly	http://purl.obolibrary.org/obo/GO_0120032	regulation of plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_1903551	regulation of extracellular exosome assembly	http://purl.obolibrary.org/obo/GO_1902115	regulation of organelle assembly		
http://purl.obolibrary.org/obo/GO_0034702	monoatomic ion channel complex	http://purl.obolibrary.org/obo/GO_1902495	transmembrane transporter complex		
http://purl.obolibrary.org/obo/GO_0033143	regulation of intracellular steroid hormone receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1902531	regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0043122	regulation of canonical NF-kappaB signal transduction	http://purl.obolibrary.org/obo/GO_1902531	regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0051056	regulation of small GTPase mediated signal transduction	http://purl.obolibrary.org/obo/GO_1902531	regulation of intracellular signal transduction		
http://purl.obolibrary.org/obo/GO_0070563	negative regulation of vitamin D receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0070562	regulation of vitamin D receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0070564	positive regulation of vitamin D receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0070562	regulation of vitamin D receptor signaling pathway		
http://purl.obolibrary.org/obo/GO_0015985	energy coupled proton transport, down electrochemical gradient	http://purl.obolibrary.org/obo/GO_1902600	proton transmembrane transport		
http://purl.obolibrary.org/obo/GO_0010155	regulation of proton transport	http://purl.obolibrary.org/obo/GO_1904062	regulation of monoatomic cation transmembrane transport		
http://purl.obolibrary.org/obo/GO_0080154	regulation of fertilization	http://purl.obolibrary.org/obo/GO_2000241	regulation of reproductive process		
http://purl.obolibrary.org/obo/GO_1901317	regulation of flagellated sperm motility	http://purl.obolibrary.org/obo/GO_0060295	regulation of cilium movement involved in cell motility		
http://purl.obolibrary.org/obo/GO_0060079	excitatory postsynaptic potential	http://purl.obolibrary.org/obo/GO_0060078	regulation of postsynaptic membrane potential		
http://purl.obolibrary.org/obo/GO_1903998	regulation of eating behavior	http://purl.obolibrary.org/obo/GO_0060259	regulation of feeding behavior		
http://purl.obolibrary.org/obo/GO_0060350	endochondral bone morphogenesis	http://purl.obolibrary.org/obo/GO_0060349	bone morphogenesis		
http://purl.obolibrary.org/obo/GO_0061622	glycolytic process through glucose-1-phosphate	http://purl.obolibrary.org/obo/GO_0061620	glycolytic process through glucose-6-phosphate		
http://purl.obolibrary.org/obo/GO_0047045	testosterone dehydrogenase (NADP+) activity	http://purl.obolibrary.org/obo/GO_0072582	17-beta-hydroxysteroid dehydrogenase (NADP+) activity		
http://purl.obolibrary.org/obo/GO_0080145	intracellular cysteine homeostasis	http://purl.obolibrary.org/obo/GO_0080144	intracellular amino acid homeostasis		
http://purl.obolibrary.org/obo/GO_1990266	neutrophil migration	http://purl.obolibrary.org/obo/GO_0097530	granulocyte migration		
http://purl.obolibrary.org/obo/GO_0055062	phosphate ion homeostasis	http://purl.obolibrary.org/obo/GO_0098771	inorganic ion homeostasis		
http://purl.obolibrary.org/obo/GO_2000257	regulation of protein activation cascade	http://purl.obolibrary.org/obo/GO_1903317	regulation of protein maturation		
http://purl.obolibrary.org/obo/GO_0098869	cellular oxidant detoxification	http://purl.obolibrary.org/obo/GO_1990748	cellular detoxification		
http://purl.obolibrary.org/obo/SO_0000001	region	http://purl.obolibrary.org/obo/SO_0000110	sequence_feature		
http://identifiers.org/ncbigene/100009242	KCNH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100009337	APOE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100009443	KCNQ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100034152	GBE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100052070	SLC5A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100067593	RAPGEF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100101566	MYH7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100126000	KCNE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100155488	LOC100155488	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100216328	LAMC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100336873	LAMA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100338756	PCSK9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100340377	ANO5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100505382	IDUA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100512445	ABCA12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100626544	SPTBN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100682814	FAM83G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101085667	DSG4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101089368	TAC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101090097	HR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101095896	IDUA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101096736	MYH7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101098372	ALMS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101100231	GNPTAB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101119722	TMCO6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101119919	ITGB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101120365	MFSD2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101122212	TNNT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/112993853	NAGLU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/396860	MYH7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397525	CFH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397617	HR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403434	AMN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403466	COL4A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403767	CUBN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/407161	SLC12A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/442953	LAMB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/443241	HR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/444857	KRT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/474521	LARGE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476255	SERAC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477820	ACSL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480173	LAMA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480460	ARSG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481416	ASPRV1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481763	PNPLA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483315	TSEN54	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/484024	GRM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/485570	ABHD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490960	CNTNAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490965	NAGLU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493962	GBE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/506995	ITGB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/511043	LAMC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/514360	DSP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/516891	FA2H	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/519580	HEPHL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/523479	ABCA12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/532644	KRT71	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607694	CNP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/609265	SGCA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/609521	RAPGEF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/715701	MSH6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/789125	NAGLU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/791238	LAMA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/791245	LAMC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100009169	PLP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100033824	SRY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100054723	GYS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100113471	CEP290	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100316614	VDR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100328958	SRY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100684742	GJA9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100686975	ATP13A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100855510	FAM161A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100855710	SCN9A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101081362	EXT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101087097	CREB3L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101094089	KIF3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101097917	LTBP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101103799	PLA2G6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101161472	dmrt1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101823465	Mitf	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102125675	PINK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102135563	MECP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102153786	RD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/119863935	NR5A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/280931	SRY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281226	MOCOS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282187	COL1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/395866	GC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/399543	VWF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/399544	VWF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403401	DSG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403582	COL6A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403651	COL1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403668	COL6A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403726	RPGR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403824	COL1A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403869	TP53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403891	CNGA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403906	SAG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/404084	SLC4A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/414902	MITF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/414903	SOX10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/443139	EDNRB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475400	RPGRIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475880	PNPLA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475989	EXT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476127	RAB3GAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476528	IFT122	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476582	CCDC66	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476849	SBF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478600	PCYT1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481002	PLP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481256	PLA2G6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481734	COL11A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482049	NDRG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482401	ANLN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482662	MAP9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483028	XDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483060	MERTK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483791	BEST1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/485950	TUBB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486588	VDR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486705	NECAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/487439	MFN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488542	SLC4A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489374	VPS11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490482	MOCOS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490864	TECPR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493763	RHO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/497636	DMD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/510434	MAP2K2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/512750	UBE3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/514394	UCHL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/535496	PNPLA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/539813	KCNG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607609	COL9A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/608287	ITGA10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/608491	IMPG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/609511	ARHGEF10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612430	COL9A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612440	NDP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/616576	GCK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/654400	GATA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/706037	PINK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/706985	SNCA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/751823	LIX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/55085	HRURF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100008753	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100033876	ACAN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100049427	tyr	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100058225	B4GALT7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100069045	PKHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100142664	HEXA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100145856	HEXA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100353742	GADD45G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100355731	DMD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100514823	NLRP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100683420	LAMA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100684999	CDH23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100687760	KRT5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100855746	NME5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100855882	MIA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100855930	PRKG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100856027	EPS8L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101083081	UGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101090912	KRT14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101092316	SLC7A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101094220	ASPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101094584	SLC3A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101096131	PEA15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101099749	HPS5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101104220	CCDC65	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101105492	SLC13A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101111175	OTOF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101683509	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102120803	STXBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102408280	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/109573235	CHRNE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/110255786	GJB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/110257481	OSBPL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/112932288	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/116563217	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/120808672	hps5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/122912503	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/280834	EVC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/280951	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/280985	ACAN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281268	KRT5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281338	MYH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403405	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403559	SOD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403700	SLC3A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403753	POU1F1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/408184	GHR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/415710	ESRP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476182	PIGN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478018	PITRM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478885	KLF7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479471	CHRNE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482083	PLEC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482312	DLX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482431	SLC13A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/484601	SLC7A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486887	RBM20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/487633	HEXA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488708	ADAMTS17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489303	SLC37A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489625	NPHP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490467	LOXHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490718	SIX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/491276	ADAMTSL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/494004	APOB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/505234	FGD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/526125	GON4L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/528050	SLC6A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/529062	ANKRD28	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/533330	PRKG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607584	LHX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/611267	ADAMTS10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/616218	GALNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/751100	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://purl.obolibrary.org/obo/SO_0002121	vertebrate_immune_system_gene	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10057	RNF13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11509	SYT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11937	CD70	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19380	RNU12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2033	CLDN10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23338	ACBD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25576	NAXD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26182	COLGALT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2649	CYP51A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27089	CARMIL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29401	MYSM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3518	EXTL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3642	FDXR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4331	GLS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6485	LAMA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7582	MYL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8109	ODC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9117	PMP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100034668	CLN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100050902	PLOD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100059740	TRPM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100145896	KISS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100151744	RAG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100174922	GM2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100216331	ARSB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100233164	CNGA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100240724	SGCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100302391	GRHPR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100345183	DMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100350127	FAH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100526136	NF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100623036	FAH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100623352	TPP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100625536	GUCY2D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100682877	TNXB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100688240	PCARE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100750221	CYP27B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100750233	GNS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100855679	AGXT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101082193	COL5A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101083010	LTBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101084281	MFSD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101085146	IQCB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101086359	GAA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101087258	ITGB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101090450	RDH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101091382	CYB5R3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101094270	NPC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101096945	ADAMTS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101098948	PKD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101099497	SMPD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101099969	CLN6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101103446	AGXT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101112930	GLB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101117379	GBA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101120574	ADAMTS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101824015	Il2rg	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101837953	Sgcd	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/103023169	oca2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/107305840	SLC45A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/280798	GAA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/280916	RP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281187	MSTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281769	FGFR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281877	ITGB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282149	BCKDHA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282401	ADAMTS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/286772	NPC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/327664	PYGM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397055	CYP27B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397060	DUOX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397156	IL2RG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397359	MC4R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397506	RAG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/399653	PDE6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403492	G6PC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403554	CNGB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403590	COMMD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403620	PDE6A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403630	TGM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403707	SGSH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403770	ITGB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403831	GUSB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403841	COL4A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403849	PFKM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403851	IL2RG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403873	GLB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/414755	PLN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/420212	WWP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/431665	SLC45A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/442958	P2RY12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/442998	PYGM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/443060	CTSD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/444852	ABCA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/474479	CYB5R3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475316	PPT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475579	ADAM9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476086	MFSD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476149	LOC476149	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478100	HEXB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478121	BBS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478582	IQCB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478836	COL5A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479382	RETREG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479931	AGL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480413	TTC8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480684	COL5A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481133	CYP27B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481341	CNGA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481453	ADAMTS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482186	ENAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483352	GAA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483420	RAG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483662	CTSD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483745	CAPN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483766	FERMT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/484357	ACP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/484830	SLC5A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/485187	SERPINH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/485337	TPP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/485498	CLN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486775	CHAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/487634	BBS4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488089	CCDC39	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488558	CLN8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488683	OCA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489157	NIPAL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489236	SLC45A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489766	HSF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490978	KRT16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/491317	SLC27A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/491935	EDA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493693	NPC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493879	GUSB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493927	GLB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493928	HEXB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/497068	CLN6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/510763	MYBPC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/512056	RASGRP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/518117	ATP2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/519225	CNGB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/525040	IL17RA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/529186	CLN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/533175	CHD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/538590	COL5A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/538746	SLC45A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/554324	FGFR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607077	MLPH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/608697	LOC608697	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/609630	GP9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/610364	ARSB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/610534	LRIT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612079	SGCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612101	RASGRP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/613947	EDAR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/616179	EDA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/641309	PKD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/678673	CLN6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/698782	MLH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/700261	PDE6C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/707478	BBS7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15808	GZF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1915	CHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19321	NKX6-2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28908	DNAJC12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3581	BPTF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4446	GPAA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4796	HAAO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/799	ATP1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100049347	slc45a2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100127354	CLN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101121049	PPT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101123558	DMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101150212	SLC45A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100060312	FDXR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100009697	ITGA2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100009704	KIT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100033875	EDNRB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100033885	PMEL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100033918	MITF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100033980	AR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100034090	RYR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100049006	PRCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100049793	SCN4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100051180	DDB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100051445	SERPINB11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100052538	TOE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100052596	MUTYH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100052711	SEL1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100054031	KRT25	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100054797	STX17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100056517	PAX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100058432	IKBKG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100058647	B3GALNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100066834	PPIB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100067328	LMF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100067731	GRM6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100069548	MYO5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100072676	ST14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100126859	LMNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100127114	HMBS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100144606	PKD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100169727	SHH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100196905	COL2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100271720	F8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100303665	TNNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100313488	F12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100337106	GRID1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100337204	CACNA1S	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100341806	DUT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100343574	LMNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100345737	CYP11A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100346735	MFSD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100357301	YIPF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100359113	RHOB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100359363	F8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100379624	CRX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100422803	PITX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100500740	UROS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100512855	DCLRE1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100516429	PKD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100518733	CACNA1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100520162	HOXA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100684936	SCARF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100685330	NAPEPLD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100685969	COL11A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100686387	SP110	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100688824	GJB6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100708119	rln3b	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100718205	Man2b1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100736765	LOC100736765	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100750234	MANBA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100750237	TG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101080362	LDLR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101080686	SLC39A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101081241	ABCA12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101081271	SOAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101081414	LYST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101082767	PAX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101084937	DMD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101085020	DPYS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101085458	ETFDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101088459	PKLR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101088917	LMBR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101089053	AIPL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101090663	STAT5B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101090772	LHFPL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101091102	CAD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101091281	FAM8A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101091298	ACVR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101091495	ATP7B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101092751	F8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101093134	COLQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101093350	BMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101093379	CTSK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101093757	MTM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101093889	CYP2R1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101094353	L2HGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101094698	MYBPC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101095349	ALX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101096551	NSDHL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101096849	COL17A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101097790	CYP11B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101098706	TPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101099600	FOXN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101100264	WNK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101100283	EDA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101100930	ITGA2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101105176	LAMB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101109592	ALS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101110519	TMEM67	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101112105	SLC33A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101113249	FGF14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101114594	OBSL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101115695	PRICKLE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101115757	AGTPBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101120653	LOC101120653	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101120658	RELN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101122731	MMUT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101123195	ALPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101841040	Dcaf17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101867272	TPP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102125659	LMNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102144912	IL2RG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/103027506	gja8b	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/106991217	HMX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/107319950	MITF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/107321973	GAA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/107323710	NEFL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/109574543	LOC109574543	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/122900571	LYST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/280706	TG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/280726	ASS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281072	LYST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281154	FBN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281158	FECH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281167	FMO3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281568	UMPS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281783	GLRA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281909	MANBA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282184	CLDN16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282188	COL1A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282254	HSPA1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282272	MAN2B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282301	PDGFRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282357	SLC2A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282648	CACNA1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/319094	EDN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/3283885	ND4L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/373945	ABCA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/395267	FMO3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/395615	SHH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/396718	RYR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/396810	KIT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397373	MYO7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/399545	HCRTR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/399683	PLP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403459	AP3B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403467	COL7A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403474	CAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403476	SERPINE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403507	KITLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403521	TPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403548	ALPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403562	MCHR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403602	PLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403627	TTPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403789	ITGA2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403795	GH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403803	RPE65	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403811	KIT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403832	PTEN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403863	GUCY2D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403875	F8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403878	ATP2A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403916	GALC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403929	FUCA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/404015	F9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/404193	FGFR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/407217	EGFR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/407998	F11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/414836	FBN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/418068	TMEM263	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/427360	MPDZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/443347	CFTR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/443483	COL1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/448809	COL10A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/474161	NHLRC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/474176	PRKDC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475526	BRAF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475568	RNF170	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475623	F11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475624	KLKB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476728	C3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476739	MICOS13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476754	NDUFS7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476903	ATP7B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477339	SACS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477395	MFF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477663	STK38L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477775	RBP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477876	RB1CC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477941	PDP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477995	SUV39H2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478047	NR3C1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478159	MECR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478312	MYO5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478347	MAP2K1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478674	P3H2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478806	ATF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478913	STK36	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479017	FAN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479093	SLC2A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479139	APC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479364	DNAJC21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479529	FLCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479683	CARMIL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479913	AMPD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480124	LMNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480255	PCK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480316	L2HGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480411	SPATA7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480495	GFAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481079	NSDHL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481119	SDR9C7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481687	AKNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481746	ITPR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481818	GTPBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/481981	VPS13B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482032	HAS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482081	FAM83H	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482138	NIPAL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482192	ADAMTS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482207	IBA57	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482284	ABCB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/482581	PTPRQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483273	RELN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483669	KCNQ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483692	UNC93B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483734	EHBP1L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/484185	JAK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/484599	SLC7A10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/484953	ATG4D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/485068	DIRAS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/485174	MYO7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/485818	RBCK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486151	LOC486151	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486506	AMHR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486597	ANO6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486602	ADAMTS20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486614	YARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486638	ABCC9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/486981	SGK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/487883	MANBA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488207	DSP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488246	ALDH5A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488654	MPZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489197	SH3TC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489463	ACADVL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489487	ALOXE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489707	LOC489707	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490207	ACADM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/490334	TNR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/491319	DNM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493692	XDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493697	MAN2B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493945	FASLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/493973	F9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/497117	UROD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/504317	LRP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/504468	HEXA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/504511	AK9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/504799	CLN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/505558	KDSR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/505818	PPP1R13L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/507122	CDC45	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/507133	COL7A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/507479	CEP250	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/507760	PRDM10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/508389	RFC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/509885	IARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/510951	SLC39A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/512950	FGD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/513545	CLCN7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/514031	ITGB7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/514433	ZIC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/514928	KIF1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/515306	PIGH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/518523	DGKG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/520030	LAMB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/521442	SPAST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/522791	RNF11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/523579	OPA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/524443	TBXT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/527023	SLC40A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/530282	QRICH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/531725	SLC25A46	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/534082	ADAMTS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/534574	MFN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/534801	GFRA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/535043	ITGA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/536121	RSPO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/537483	ADAMTSL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/538558	BRI3BP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/538800	GNPAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/539048	CYP26C1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/539337	WNT10B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/539773	NOA1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/574164	HR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/574283	LDLR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/594846	ALX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/606491	RYR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/606755	PKD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/606758	DMD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/606918	MTMR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607140	PKP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607186	LAMP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607443	INPP5E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607608	PCYT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607643	MKLN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607661	F7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/607903	EFNB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/608860	SHH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/609080	MTBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/609776	NKX2-8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/609979	ALX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/609986	MPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/610570	NHEJ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/610874	JPH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612095	SLC6A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612102	BCAN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612385	MTM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612802	HES7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/612841	RALGAPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/614487	KDM2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/617881	F13A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/693322	GALC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/696540	MBTPS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/705792	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/712220	OCA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/784366	DLX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/785909	CACNA2D2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/789315	PLD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/791233	PRKDC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/791235	MYH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/804486	CYTB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100154726	TSC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10001	RGS5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10004	RGS9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10006	RHAG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10012	RHO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10013	GRK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10023	RIT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10024	RLBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10031	RMRP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10050	RNASEL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10069	RNF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1012	OPN1SW	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1014	BCR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1020	BCS1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10250	ROBO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10254	ROM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10257	ROR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10260	RORC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10263	RP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10274	RP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10288	RP9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10294	RPE65	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10295	RPGR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10297	RPIA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10298	RPL10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/103	CNNM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10301	RPL11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10306	RPL15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10313	RPL21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10327	RPL26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1033	BDNF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10345	RPL35A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10360	RPL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1037	CFB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10379	MRPL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10383	RPS10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10387	RPS14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10397	RPS17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1040	BFSP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10402	RPS19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1041	BFSP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10411	RPS24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10414	RPS26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10418	RPS28	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10419	RPS29	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10432	RPS6KA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1044	BGN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10440	RPS7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10457	RS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10468	RTN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10471	RUNX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10472	RUNX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10483	RYR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10484	RYR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/105	CNNM4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10519	SACS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1052	BIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10521	SAG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10524	SALL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10526	SALL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10535	SAR1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10536	SARDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10540	SAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10542	SBF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10545	MSMO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10547	SC5D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10548	ATXN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10549	ATXN10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10555	ATXN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10560	ATXN7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10561	ATXN8OS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1057	BLK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1058	BLM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10582	SCN10A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10583	SCN11A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10585	SCN1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10586	SCN1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10588	SCN2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10589	SCN2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1059	BLMH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10591	SCN4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10592	SCN4B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10593	SCN5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10596	SCN8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10597	SCN9A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10599	SCNN1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10600	SCNN1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10602	SCNN1G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10603	SCO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10604	SCO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10606	SCP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10610	CCL11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10618	CCL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1062	BLVRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10627	CCL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10628	CCL3L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10648	AIMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10660	SDC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10664	CWC27	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10669	TSHZ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1067	BMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10671	SDCCAG8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10672	CXCL12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1068	BMP15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10680	SDHA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10681	SDHB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10682	SDHC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10683	SDHD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1069	BMP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10701	SEC23A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10702	SEC23B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10706	SEC24D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1071	BMP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10718	SELE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10721	SELP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10723	SEMA3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10727	SEMA3E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10729	SEMA4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1076	BMPR1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10768	SF3B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1077	BMPR1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10771	SF3B4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10778	SFRP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1078	BMPR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10798	SFTPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10799	SFTPA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10801	SFTPB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10802	SFTPC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10805	SGCA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10806	SGCB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10807	SGCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10808	SGCE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10809	SGCG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10818	SGSH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10820	SH2D1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10825	SH3BP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10848	SHH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10856	SI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10872	ST3GAL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10879	STIL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10882	SIM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10887	SIX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10889	SIX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10891	SIX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10892	SIX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10896	SKI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10898	SKIC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1090	DST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10906	SLC10A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10907	SLC11A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10908	SLC11A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10909	SLC40A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10910	SLC12A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10912	SLC12A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10914	SLC12A6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1092	FOXL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10922	SLC16A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10923	SLC16A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1093	BPGM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10933	SLC17A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10936	SLC18A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10938	SLC19A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10939	SLC1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10940	SLC1A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10941	SLC1A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10942	SLC1A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10947	SLC20A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10955	SLCO2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10959	SLCO1B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10961	SLCO1B3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10964	SLC67A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10968	SLC22A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10969	SLC22A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1097	BRAF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10975	SLC24A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10978	SLC24A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10979	SLC25A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10982	SLC25A12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10983	SLC25A13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10985	SLC25A15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10989	SLC25A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10990	SLC25A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10993	SLC26A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10994	SLC26A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10998	SLC27A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1100	BRCA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11005	SLC2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11006	SLC2A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1101	BRCA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11013	SLC30A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11019	SLC34A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11020	SLC34A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11021	SLC35A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11022	SLC35A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11023	SLC35A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11025	SLC3A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11027	SLC4A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11030	SLC4A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11036	SLC5A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11037	SLC5A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11040	SLC5A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11042	SLC6A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11048	SLC6A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11049	SLC6A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11050	SLC6A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11051	SLC6A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11055	SLC6A8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11056	SLC6A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11065	SLC7A7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11067	SLC7A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11071	SLC9A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11073	SLC9A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11075	NHERF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11079	SLC9A6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11094	SNAI2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11098	SMARCA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11100	SMARCA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11102	SMARCAL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11103	SMARCB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11109	SMARCE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11110	ARID1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11111	SMC1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11114	KDM5C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11115	KDM5D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11117	SMN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11118	SMN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11119	SMO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11120	SMPD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11122	SMPX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11123	SMS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11132	SNAP25	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11133	SNAP29	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11138	SNCA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11139	SNCAIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11140	SNCB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11142	SIK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11153	SNRPB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11161	SNRPE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11164	SNRPN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11167	SNTA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11179	SOD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11180	SOD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11183	SON	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11185	SORL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11187	SOS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11188	SOS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11190	SOX10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11191	SOX11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11194	SOX18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11195	SOX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11199	SOX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11201	SOX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11204	SOX9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11212	SPAG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11219	SPARC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1122	BTD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11226	SPG11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11231	ATL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11233	SPAST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11237	SPG7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11244	SPINK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11247	SPINT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11257	SPR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11270	SPRY2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11272	SPTA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11273	SPTAN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11274	SPTB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11276	SPTBN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11277	SPTLC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11278	SPTLC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11280	SQSTM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11281	SRA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11283	SRC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11285	SRD5A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11303	SRP72	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11311	SRY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11326	SSR4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1133	BTK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11335	SSX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11336	SSX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11356	STAG3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11359	STAR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11362	STAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11363	STAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11364	STAT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11365	STAT4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11367	STAT5B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11386	STIM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11389	STK11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11391	AURKC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11397	PLK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11408	STK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11411	CDKL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1142	BTNL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11425	STS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11427	STUB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11429	STX11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11431	STX16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11444	STXBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11445	STXBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11448	SUCLA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11449	SUCLG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11460	SUOX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11474	SURF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1149	BUB1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11494	SYN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11495	SYN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11497	SYNGAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11503	SYNJ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11506	SYP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11510	SYT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11515	TBXT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1152	POPDC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11521	TAC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11528	TACR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11529	EPCAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11530	TACSTD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11535	TAF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11536	TAF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11538	TAF4B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11540	TAF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11547	TAF15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11551	BRF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11556	TAL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11557	TAL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11559	TALDO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11566	TAPBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11571	TARDBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11573	TAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11577	TAFAZZIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11581	TBCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11582	TBCE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11584	TBK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11588	TBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11592	TBX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11594	TBX15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11595	TBX18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11596	TBX19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11598	TBX20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11599	TBX21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1160	TWNK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11600	TBX22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11602	TBX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11603	TBX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11604	TBX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11605	TBX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11608	TBXA2R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11609	TBXAS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1161	CEP55	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11610	TCAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11621	HNF1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11623	TCF12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11630	HNF1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11633	TCF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11634	TCF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11641	TCF7L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11642	ZEB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11647	TCIRG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11653	TCN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11654	TCOF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11708	TDO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1171	ELP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11714	TEAD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11720	TECTA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11724	TEK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11727	TERC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11730	TERT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11733	TEX11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11740	TF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11741	TFAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11742	TFAP2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11743	TFAP2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11752	TFE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11758	TFG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11762	TFR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11763	TFRC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11764	TG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11766	TGFB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11768	TGFB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11769	TGFB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11771	TGFBI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11772	TGFBR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11773	TGFBR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11776	TGIF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11777	TGM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11779	TGM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11781	TGM5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11782	TH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11784	THBD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11786	THBS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11791	TCHH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11795	THPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11796	THRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11799	THRB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/118	ACO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11802	TIA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11811	KLF11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11812	TRIM24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11817	TIMM8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11822	TIMP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11824	TINF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11825	NKX2-1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11828	TJP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11831	TK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11834	TKT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11843	TLL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11847	TLR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11848	TLR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11849	TLR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11850	TLR4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11851	TLR5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11854	TSPAN7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11875	TMPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11892	TNF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11896	TNFAIP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/119	ACOX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1190	NPAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11905	TNFRSF10B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11908	TNFRSF11A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11909	TNFRSF11B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11916	TNFRSF1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11918	TNFRSF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11919	CD40	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11920	FAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11922	CD27	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11926	TNFSF11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11934	TNFSF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11935	CD40LG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11936	FASLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11943	TNNC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11946	TNNI2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11947	TNNI3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11948	TNNT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11949	TNNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11950	TNNT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11957	MED12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11960	GIGYF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11976	TNXB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11998	TP53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/120	ACOX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12009	TPI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12010	TPM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12011	TPM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12012	TPM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12014	TPMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12015	TPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12029	TRAC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12033	TRAF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12261	TRDN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12266	TREH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12269	TREX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1228	SERPING1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12298	TRH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/123	ACP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12303	TRIO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12305	TRIP11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12309	ZNHIT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12310	TRIP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1232	EGLN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12335	TRPC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12338	TRPC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12340	TRPS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12362	TSC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12363	TSC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12367	TSFM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12370	CEP41	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12371	RSPH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12372	TSHB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12373	TSHR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12382	TSPYL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12399	MYOT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/124	ACP5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12403	TTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12404	TTPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12405	TTR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12406	TUB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12407	TUBA4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1241	C1QA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12410	TUBA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12412	TUBB2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12417	TUBG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1242	C1QB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12420	TUFM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12423	TULP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12428	TWIST1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12440	TYK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12442	TYR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12449	TYROBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1245	C1QC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12450	TYRP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1246	C1R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12463	UBB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12469	UBA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1247	C1S	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12472	UBE2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1248	C2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12496	UBE3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12502	SUMO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12509	UBQLN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12513	UCHL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12517	UCP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12519	UCP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12530	UGT1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12559	UMOD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12563	UMPS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12565	UNC119	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12572	UNG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12582	UQCRB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12586	UQCRC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12591	UROD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12592	UROS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12593	USF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12597	USH1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1260	CFAP410	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12601	USH2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12605	CLRN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12631	USP8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12632	USP9X	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12633	USP9Y	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12637	KDM6A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12642	VAMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12649	VAPB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12660	VAX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12665	VCL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12666	VCP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12668	VCY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12679	VDR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1268	TSPEAR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12680	VEGFA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12682	VEGFC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12687	VHL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12692	VIM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12698	VLDLR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12703	BEST1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12712	VPS33B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12718	VRK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12723	VSX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12726	VWF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12731	WAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12736	WIPF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12744	MLXIPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12762	WFS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12765	FOXN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12766	NSD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12771	CCN6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12774	WNT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12775	WNT10B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12782	WNT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12783	WNT4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12784	WNT5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12786	WNT7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12791	WRN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12796	WT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12799	WWOX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12801	XBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12805	XDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12811	XK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12814	XPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12816	XPC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12823	XPNPEP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12827	XPR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12829	XRCC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12830	XRCC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12831	XRCC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12840	YARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12843	YME1L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12858	ZAP70	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12872	ZIC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12873	ZIC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12874	ZIC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12877	ZMPSTE24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/129	ACTA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12926	ZNF141	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12930	ZBTB16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12933	ZNF148	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/12974	RNF113A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/130	ACTA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1301	CFAP298	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13013	KAT6A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13030	ZBTB18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1304	MRAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13128	ZNF711	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13156	ZNF81	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13164	CNBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13176	IKZF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1318	C3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13187	ZP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/132	ACTB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13201	ADAMTS10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13203	AICDA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1321	TIMMDC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13210	ARL6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13211	ATP2C1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13221	BCL11A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13222	BCL11B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1323	C4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1324	C4B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13243	LMBR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13254	FTSJ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13273	DUOX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13281	ESPN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1330	MYOZ2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1331	C5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13339	KIF4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13345	LPIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13356	MCOLN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13387	NEK8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1339	C6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13394	NPHS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13398	NSDHL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13406	PCLO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13429	RLIM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1343	TRAF3IP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13433	ROBO3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13436	RPGRIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13444	SLC2A10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13446	SLC2A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1346	C7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13478	UBE3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1348	SAMD9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13481	UNC93B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13486	USP27X	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13487	VPS35	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1349	SAMD9L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13503	ZBTB20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13508	BPY2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13517	CLIC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1352	C8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1353	C8B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13530	RXYLT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13533	ATP8A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13556	IFT122	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1356	ERLIN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1358	C9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13586	FBXO7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13601	FBXL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1362	FRRS1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1366	ADAMTS13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13666	AAAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13672	KLF13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13681	DCHS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1371	CA12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13711	POF1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13723	CTCF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1373	CA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13733	CDH23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13743	ALOXE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1375	CA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1377	CA5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13771	SOST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13780	GFM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13797	PRX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13806	NEUROG3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13815	BCO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13818	SLC12A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1382	CA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13825	ASPSCR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13829	WNT10A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13830	CNTNAP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13831	WDR11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13841	ADGRG6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1385	CABP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1386	CABP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13861	LZTS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13872	RIPOR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13875	FOXP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1388	CACNA1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13886	ABCG5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13887	ABCG8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1389	CACNA1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13890	ITCH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1390	CACNA1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13902	SERPINB7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1391	CACNA1D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1393	CACNA1F	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1394	CACNA1G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1395	CACNA1H	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1397	CACNA1S	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13993	PRDM8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/13997	PRDM12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14000	PRDM16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14004	ANO3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1402	CACNB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14024	PRY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14025	SLC5A7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1404	CACNB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14048	MRPS16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1406	CACNG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14064	HDAC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14074	FMN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14082	ANLN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14103	ARHGEF10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14124	NPRL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14153	CCDC78	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14154	LMF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14198	ELAC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14201	JPH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14202	JPH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14203	JPH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1421	SLC25A20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14211	BLNK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14234	NSD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1424	CAD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14244	RAB18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14253	CERS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14255	BRPF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14258	CD2AP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14262	AUTS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14263	RAB23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14270	PCDH19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14287	NLGN4X	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14289	NLGN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14294	SHANK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14295	SHANK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/143	ACTC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14304	UNC45B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14312	CRIPT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14335	PLEKHA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14341	EDARADD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14344	C1QTNF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14348	HTRA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14357	MMP21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14361	IRX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14372	SCYL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14373	GLMN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14374	NLRP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14376	ACP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14377	NHP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14378	NOP10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14388	GP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/144	ACTG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1440	CALCR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14409	SLC25A19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14412	AGXT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1442	CALM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14432	TMEM237	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1445	CALM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14450	LPIN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14468	SLC26A8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14508	MRPS22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14537	NPC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14539	RNF213	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14540	WNK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14544	WNK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1455	CALR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14550	CDHR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14558	CLEC7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14561	ARHGEF9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14579	VPS45	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14581	PINK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14583	VPS11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14604	AMN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14628	CDCA7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14630	CRELD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14631	ADAMTSL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14637	ABCA12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14673	FYCO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14674	PCDH15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14677	DEAF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1476	CAPN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1477	CAPN10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1480	CAPN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1482	CAPN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14857	COG5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14867	APOL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14872	ASPN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14880	GTPBP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14881	ZEB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14888	DNAJB6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14897	ITPKC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14906	NIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1492	SHPK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14921	TAS2R16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14938	PIGT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1494	ALX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14951	PPP1R15B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14963	GPR101	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14966	PXDN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1497	CASK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14974	SNX10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14977	SNX14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14988	POFUT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1500	CASP10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1502	CASP14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1509	CASP8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1512	CASQ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1513	CASQ2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1514	CASR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1515	CAST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1516	CAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1527	CAV1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1529	CAV3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1530	MICU1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1540	SERPINA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1541	CBL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15446	PRPF31	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15454	SHOC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15455	MBTPS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15459	P2RX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1546	SERPINH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15464	SPINK5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15465	GPHN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15469	DNAJC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15480	DIAPH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15492	ANKH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1550	CBS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15505	MBOAT7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15506	TSEN34	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15508	PUS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15511	VANGL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15512	VANGL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15516	XYLT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15517	XYLT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1552	CBX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15520	LPAR6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15532	JAM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15533	SPRY4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15559	CHCHD10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15561	IL36RN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15573	SETBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15574	RB1CC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15597	HPS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15598	HAMP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15625	NBAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15626	FCGR2C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15646	KLHL7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15672	ALG9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15685	B4GAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15710	LDB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15714	LRPPRC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15718	APCDD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1573	KRIT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15761	OSBPL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15766	ADNP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15804	OVOL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15807	ZNF335	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1582	CCND1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1583	CCND2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15832	BSCL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15836	PROKR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15840	KMT2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15844	HPS4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15853	ARFGEF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15860	PRPF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15864	RBCK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15865	KIZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15868	ABHD12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15888	RTEL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15889	FERMT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15894	PANK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15899	NDUFAF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15901	IFT52	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15911	NOP56	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15917	PLCB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15924	SALL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15925	SAMHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15946	RP1L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15954	TOE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15964	DAZ2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15965	DAZ3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15968	GDAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15971	TSG101	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15974	TRIM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15977	HES7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15979	TP63	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15984	APTX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15993	CHST8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/15999	SELENON	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16001	SUGCT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16002	MPLKIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16035	STRC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1606	CCR5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16068	PCNT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16075	RAB33B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16084	LIMS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16088	SFXN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16133	TBC1D20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16171	CHMP4B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16175	RSPO4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1618	CCT5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16187	SLC52A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16192	SLC17A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16205	MGME1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16232	COX4I2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16243	MYLK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16252	SUN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16255	TGM6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16257	TUBB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16262	YAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16266	SLC19A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16268	PNPLA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16280	TRIM36	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16287	NFU1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16290	TRIM33	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16297	UPB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/163	ACTN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1630	CD151	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1632	CD164	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1633	CD19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16353	MAGED2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16356	USH1G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16361	WHRN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16369	PARK7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16378	OTOA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16380	TRIM32	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16391	CARD9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16393	CARD11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/164	ACTN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16400	NLRP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16404	IL17F	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16406	EFHC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1641	CD209	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16412	NLRC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16429	LIAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16438	SLC4A11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16446	CARD14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16466	SUFU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16472	SLC45A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16473	NME8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16499	RAB39B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16501	PDLIM4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16510	FBXO31	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16512	BSND	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16513	TMC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16517	TMPRSS6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/166	ACTN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16627	CHEK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16628	SLC49A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1663	CD36	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16636	KIF1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16644	IFITM5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1665	SCARB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16650	MRPL44	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16691	TUBGCP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16692	CD320	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16695	BCAP31	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16700	ZFPM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16725	DNAAF11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1673	CD3D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16732	MCEE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1674	CD3E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1675	CD3G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16762	ZNF423	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1677	CD247	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1678	CD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16783	CDC73	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16791	TSEN15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16808	UBR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16812	COQ8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16817	ESS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16841	LITAF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16873	FIG4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16876	ARNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16877	MFN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16882	HCN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1689	CD59	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16892	CD96	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16901	SPEG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16902	BCKDK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16905	KLHL41	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16912	EMG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16915	HAX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16947	ERLIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16950	STAMBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16966	ZMYND11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16973	PPP1R17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16974	SRCAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1698	CD79A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16980	CFHR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1699	CD79B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16997	MLLT11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16999	CLP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17009	TRIOBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1701	CD81	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17019	PRICKLE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17020	IRAK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17022	HPS5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17023	RNF139	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17024	PHF11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17035	EXOSC8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17042	PUF60	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17043	NIPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1706	CD8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17063	RAB3GAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17068	PALLD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17073	ARHGAP26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17075	TAB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17082	MLC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17084	SYNE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17089	SYNE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17091	NCSTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17095	LARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17098	DICER1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/171	ACVR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17104	CDON	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17109	ADAMTS17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17110	ADAMTS18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17116	CATSPER1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17129	SLC39A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1713	CDAN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17142	OPTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17146	ARL2BP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17151	ORC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17158	PLD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17168	RAB3GAP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17175	PLCE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1718	CDC14A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17185	ASB10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17192	TIRAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17194	NDUFA13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17198	CHSY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17208	BICD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17213	COLEC11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17228	RAD54B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17233	ELMO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17245	CPA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17264	POLR1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17272	CPAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17282	RIMS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17284	POT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17288	APOA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17296	RRM2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17318	RXFP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17321	SP7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17327	WAC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17328	DTNBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17340	PRPF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17341	TRNT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17342	BRWD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17348	PRPF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17349	PRPF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17358	TPK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1736	CDC42	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17366	AASS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17382	SRGAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1739	CDC45	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17397	BANF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/174	ACVR2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17412	CLCF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17416	ADGRV1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1742	LRBA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1744	CDC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1748	CDH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17493	GMNN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17494	GJC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/175	ACVRL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17513	HOMER2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1754	CDH15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17582	KAT6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17616	IL17RD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17619	NDE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1762	CDH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17642	DCLRE1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17646	NGLY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17652	PORCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17655	GREM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17697	SARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/177	ACY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1773	CDK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1774	CDK5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17755	TNFRSF13C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17759	PDSS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17761	TREM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17768	TDP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1777	CDK6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17772	TXN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17797	MAP3K20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17820	NT5C3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1785	CDKN1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1786	CDKN1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17861	IFT54	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17866	HAVCR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17869	AFF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1787	CDKN2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17870	INVS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17877	NMNAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17893	PGAP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17928	PSMC3IP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17935	CD207	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17944	EXOSC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17964	RDH11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17966	CEP83	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17967	IRAK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17975	REEP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17978	B3GALT6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17989	SLC22A12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17993	TRPM4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17994	TRPM7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17995	TRPM6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17996	NAGS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17997	FKRP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1802	CDSN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18021	TMC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18025	COA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18040	ARID1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18053	PKD1L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18060	ARX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18062	GPT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18083	TRPV4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18084	TRPV3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18085	VMA12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1809	CDY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1810	CDY2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18111	CCDC50	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18119	AFG2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18121	MFRP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18122	SOX17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18124	P2RY12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18127	TUBGCP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18129	GHRL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18130	SYCP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18141	DCDC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18145	PHF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18150	MYO18B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18153	TNFRSF13B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18169	FKBP10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18171	CD244	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18179	VPS33A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18183	GIPC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18187	SIAE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18194	ZNF365	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18233	BANK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18234	MOCOS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18243	RCBTB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18248	ELP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18249	KCTD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18276	SEC61A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18286	RAX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18292	CFC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18294	ALG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18305	ATP6AP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18308	TMLHE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18318	ASXL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18324	HSD3B7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1833	CEBPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18337	PADI3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18340	WDR19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18348	TICAM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18358	IL17RC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1836	CEBPE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18362	IMPG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18365	IFNL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18368	PADI4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18374	HPSE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1838	CECR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1839	ADA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18391	SCGB3A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18398	SMARCAD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18420	SETD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18423	DEPDC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18451	MCFD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18453	NAXE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18455	PROK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18466	RNASEH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18475	ZDHHC9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1848	CEL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18481	ATP6V0A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18483	LIPH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18501	RPS4Y2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18505	RNF43	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18514	SPART	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18518	RNASEH2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18539	STX1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18540	CPT1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18550	IER3IP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1856	CENPE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18568	HSFY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1857	CENPF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18571	XKRY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18576	CCNO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18591	NEK9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/186	ADA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18601	RTN4R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18603	COL25A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18618	LRRK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18620	COG4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18621	COG6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18622	COG7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18623	COG8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18625	FKBP14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18626	IFT27	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18640	LDLRAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18647	RTN4IP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18654	RTTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18658	NUP205	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18662	RAX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18667	PMPCA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18672	CDK5RAP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18674	DDX41	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18683	EIF4A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18688	CRB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1869	CETP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18704	NAA10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18708	GRIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18713	GLCCI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18744	DNAI2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18746	SLURP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1875	CFL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18750	RIN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18758	BBS7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18762	SLC36A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18782	CCDC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18791	ZFP57	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/188	ADAM10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18801	POGZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18802	ATPAF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18806	CAMTA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18810	CATSPER2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18817	HPS6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18821	LIPI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18828	NDUFAF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18829	KLHL10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18831	CTHRC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1884	CFTR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18858	PIGM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18865	KCNT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18871	MMAA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18873	IFIH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18884	TDP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18969	IL31RA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18971	AP1S3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18985	DCXR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18986	GBA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19	AANAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19012	CORIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19016	TRIM44	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19027	LRRC8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19041	COQ8B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19042	MASTL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19048	ASPM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19073	THOC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19077	NCR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1908	VPS13A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19082	NALCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19087	EBF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19100	IL23R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19102	RIGI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19104	NPHP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1912	CHAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19125	FGD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19129	PSAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19139	POMGNT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19141	TTBK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19165	TBC1D4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1917	CHD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19181	KIF14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19185	FRAS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19189	DOCK6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1919	CHD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19190	DOCK7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19191	DOCK8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19194	HMCN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19218	PLCZ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19237	NANS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19261	MTO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19263	LMAN2L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19309	KANK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19316	P3H1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19317	P3H2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1932	CHI3L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19331	MMAB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19344	DENND5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19349	KIF21A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19351	BICC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19353	SIN3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19358	ALG12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1936	CHIT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19368	HYDIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1938	CHKB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1940	CHM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19412	ZMYND10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19414	DPY19L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1943	CHN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19439	KCNK18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19440	SBDS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/195	ADAM17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1952	CHRM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1955	CHRNA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1956	CHRNA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1958	CHRNA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1960	CHRNA7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1961	CHRNB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1962	CHRNB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1965	CHRND	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1966	CHRNE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19661	TNNI3K	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1967	CHRNG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1968	LYST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19687	EIF2AK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19688	NECTIN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19689	RD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19691	MECR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19693	COQ4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19698	KCNV2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19706	ADAMTSL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1971	CHST3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19714	DDHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19721	CANT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1974	CHUK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19743	POMT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19747	EVC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1975	VSX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19750	TTC7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1980	CILP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1983	UTP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1984	CISH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1985	CIT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19857	ISCA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19869	SCARF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/1987	CITED2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19877	GALNT12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19899	ZFAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19954	SLC25A22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19957	TECPR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19960	KIAA0586	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19963	TTLL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19967	CCDC88C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19977	RDH12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/19986	CYCS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20	AARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20001	PCSK9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20041	ZNF408	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20087	TTC8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20093	ADSS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20105	FLVCR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20134	GLRX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20145	GPR143	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20151	SLC17A8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20153	CHD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20188	DNAAF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2019	CLCN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20193	HFM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20194	POLR1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20197	SLC35C1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2020	CLCN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20202	CACNA2D4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20207	B3GLCT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2022	CLCN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2023	CLCN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20233	COQ6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20249	SPRED1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2025	CLCN7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2026	CLCNKA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2027	CLCNKB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20278	NUBPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20297	SLITRK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20303	SLC30A8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20305	SLC34A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20311	CHAMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20318	SMOC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2032	CLDN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20323	SMOC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20324	TGDS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20330	POMP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20340	PRICKLE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20342	ZDHHC15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20347	VIPAS39	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2035	CLDN14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2037	CLDN16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20371	NDUFA11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20372	NDUFB11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20373	SPG21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20376	SUMF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20389	RETN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2040	CLDN19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20406	KRT6C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20407	CALR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20422	POLR1D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20423	SPATA7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20439	UPF3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20444	MBD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20449	PADI6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20473	BRIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20474	TMC8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20492	COA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20499	L2HGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20502	SLC39A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20509	ZC3H14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20577	CYP26C1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20580	CYP2R1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20581	CYP26B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20582	CYP2U1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20603	DHDDS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20626	CHD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2063	CLIC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20653	SLC9A9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20661	SLC25A26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20665	SCN3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20670	TWIST2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20672	PHF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20692	TPH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20716	KLC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2073	TPP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20731	GNB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2074	CLN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20748	FANCL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2076	CLN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20761	ZFYVE26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20766	TUBA1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2077	CLN6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20772	TUBB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20773	TUBB8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20778	TUBB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20788	RHBDF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2079	CLN8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20800	SLC35D1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2084	CLPP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20856	THAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20858	SLC39A14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20859	SLC39A13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20862	SLC39A8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20889	LRIG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20893	BCOR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20914	BLOC1S3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/20997	ZMYND15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21014	ANTXR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21022	AARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21024	CUL7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21033	HACE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21034	NDUFAF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21042	NUS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21043	PITPNM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21050	CDKAL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21054	RSPH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21056	ERMARD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21057	RSPH9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21061	SERAC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21062	FARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21071	IYD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21082	SEC63	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21086	MIB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21143	ZBTB24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21144	DSE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21150	RNF125	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21157	GTF2H5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21158	RNF135	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21176	RMND1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21181	SUMO4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21191	DAOA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21197	FA2H	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21219	CILK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21237	UQCC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21244	LEMD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21246	PNPLA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21253	LHFPL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21285	ADCY10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21307	DSG4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21308	ELOVL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21316	ANKRD11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21317	DYM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2135	SBF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21350	PDHX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21365	LYRM4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21390	RIPPLY2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21396	ABHD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21406	RARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21424	IFT74	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21474	INPP5E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21478	RFX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2148	CNGA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21484	MCM9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21493	DNAAF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21497	ACAD9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21498	ATG16L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2150	CNGA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21504	PRY2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2151	CNGB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21528	DIABLO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2153	CNGB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21555	EYS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21558	RSPH4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21575	AHI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21576	NHLRC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21580	KIAA0319	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/216	ADAM9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21606	MPC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21637	SATB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21641	TSPAN12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21642	VARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21645	CHCHD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21652	OSTM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21653	TOPORS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21679	RSPO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21686	RNASET2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21694	POU6F2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21698	RNF216	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21699	CERKL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21701	BRAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21708	CCM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2171	CNTN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2172	CNTN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21732	ANTXR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21734	LHX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/218	ADAMTS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2180	COCH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2183	VPS13B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2185	COL10A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2186	COL11A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21862	DYNC2I1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21863	RBM28	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21869	AGK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2187	COL11A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2188	COL12A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2190	COL13A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2194	COL17A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2195	COL18A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21957	KCTD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2197	COL1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2198	COL1A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2200	COL2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2201	COL3A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2202	COL4A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2203	COL4A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2204	COL4A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2205	CERT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2206	COL4A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2207	COL4A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2208	COL4A6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22082	VMA21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2209	COL5A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2210	COL5A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2211	COL6A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2212	COL6A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2213	COL6A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2214	COL7A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22140	FAM20C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2216	COL8A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2217	COL9A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2218	COL9A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2219	COL9A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22197	AP5Z1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2220	COLEC10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2226	COLQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2227	COMP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2228	COMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2230	COPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2235	KLF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2244	COQ7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22448	NOBOX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/225	ADAR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2252	CORO1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2260	COX10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2263	COX15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2277	COX6A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22788	FEZF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2280	COX6B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2291	COX7B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22923	GMPPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22932	GMPPB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22938	NLRP12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22947	NLRP7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2295	CP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22954	POGLUT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22962	MED13L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22965	PEX26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/22986	COL27A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23	ABAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23015	FAM20A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23026	GNPTG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23038	LMBRD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23041	PDSS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23044	NANOS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23056	ALG3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23063	NUDT15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23068	TRAPPC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23089	SLC13A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2309	CPLX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23094	SLC16A12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23096	SLC29A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23109	FAT4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2312	CPN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23141	TRMT5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23143	SYT14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23147	UNC13D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23151	FERMT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23157	ALG6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23159	ALG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23161	ALG8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23162	ALG10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23166	PNPT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23168	FANCM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23198	CYP4V2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/232	ADCY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23204	KIRREL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2321	CPOX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23212	MYH14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23213	PIGW	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23215	PIGO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23216	ZNF469	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23228	CPAMD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2323	CPS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23230	UBA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23246	MYPN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23247	DNAL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2328	CPT1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23287	ETHE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2330	CPT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2334	CR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2336	CR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23399	FREM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2340	CRADD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23405	LRMDA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23406	DOLK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23419	KIFBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2343	CRB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2345	CREB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23452	LIPN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2348	CREBBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23503	SLITRK6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23505	BMS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23508	STOX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23537	DHTKD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23564	MIR17HG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23573	MORC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23594	VPS13C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/236	ADCY5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23631	NPSR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23639	SKIC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2364	CRLF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23657	GNE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23658	DELEC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23663	VKORC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/237	ADCY6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23719	PGAP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2372	MED23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23734	PTF1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2375	MED17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23752	CERS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23785	PIKFYVE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2379	CRTAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23791	INF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23801	SIPA1L3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23805	ASXL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2383	CRX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2384	CRY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23845	SLX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2388	CRYAA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2389	CRYAB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2394	CRYBA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2395	CRYBA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2396	CRYBA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2397	CRYBB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2398	CRYBB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/23987	NDUFA12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2400	CRYBB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24035	APPL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24036	APC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24039	CLMP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24054	KNL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2409	CRYGB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2410	CRYGC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2411	CRYGD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24116	RNASEH2C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24123	B9D1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24154	BMPER	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24160	BEAN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2417	CRYGS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2418	CRYM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24200	FAM111B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24212	CISD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24229	CIDEC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24245	DRC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24247	GLYCTK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24249	YARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24265	PTRH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24268	ASCC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/243	ADD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24316	TACO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24323	CARTPT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2433	CSF1R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24338	C1GALT1C1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2436	CSF2RB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2439	CSF3R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24415	BOLA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24431	KRT75	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24464	CHST14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24475	DMGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24488	POC1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/245	ADD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24502	WDR62	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24519	TCTN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2452	CSNK1D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24525	MMACHC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24526	ATL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24529	TMEM98	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24537	CHMP2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24539	NECAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24564	C2CD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24565	KANSL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2457	CSNK2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24576	CDT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24579	CIB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24587	HYCC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24592	STEAP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24595	DYNC2LI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24624	SIL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2464	VCAN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24650	EHMT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24668	CFHR5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24669	FIGLA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24671	FLAD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24678	FTO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2468	SMC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24682	FLVCR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2472	CSRP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24725	FAM111A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2475	CST3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24783	LRIT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24797	SACK1H	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2481	CSTA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2482	CSTB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24858	MFF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24861	G6PC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24862	MOGS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24866	CEP104	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24872	GNAS-AS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2488	NKX2-5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24891	DCAF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24912	LARP7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24928	VPS37A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2494	CTBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24945	GPIHBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/24969	NPRL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2498	CTDP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/250	ADH1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25009	UBE2T	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2501	CTH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25018	TMEM216	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25033	LRTOMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2505	CTLA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25070	ACD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25088	SGO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2509	CTNNA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/251	ADH1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2511	CTNNA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25118	OTULIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25133	MARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25135	LRSAM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2514	CTNNB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25151	ADAT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25155	HOGA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2518	CTNS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25186	TMEM240	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2519	CTPS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25198	SLC25A46	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25221	MMADHC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25223	COQ2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2523	CTRC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25230	AHDC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25240	ANO6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25244	CCDC39	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2528	CTSC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25280	ODAD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2529	CTSD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25302	COQ9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2531	CTSF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25355	SLC30A10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25356	SPRTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25358	RNF170	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2536	CTSK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25360	DDX59	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25367	CCDC8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25382	TMEM126A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25396	FREM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25403	SASS6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25415	PPM1K	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25419	ARL13B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25439	TANGO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25443	C19orf12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25455	TSR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25461	PUS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2548	CUBN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25481	TRMU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25491	FRMD4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25507	VAC14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25519	ANO10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25522	WRAP53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25523	CCDC88A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2553	CUL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25532	MTPAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25535	TMEM38B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25538	DARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2555	CUL4B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25557	PRMT7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25566	SETD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25567	ATAD3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25568	FANCI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2558	CX3CR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25583	ODAD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25608	VPS53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2561	CXCR4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25613	CWF19L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25640	UFSP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25660	TTC21B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25662	AAGAB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2567	OFD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25671	RNASEH2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25676	GORAB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2568	MAMLD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25695	CARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/257	ADK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2570	CYB5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25705	KCTD17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25712	PGAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25716	COA7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25726	LAS1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25737	NHEJ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25740	CEP78	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25751	TRAPPC11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25763	SMG9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2577	CYBA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25774	TCTN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2578	CYBB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25781	ARMC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25784	DCAF17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25786	REEP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2579	CYC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25792	USB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25799	GUF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25801	CPLANE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25808	FAM161A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25812	SRD5A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25815	CEP63	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25839	GRHL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2584	CYLD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25843	ZNF750	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25896	ORAI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25897	MFSD2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2590	CYP11A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25902	POMGNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2591	CYP11B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2592	CYP11B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25928	WDR73	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2593	CYP17A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2594	CYP19A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25941	TET2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25947	KLHL24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25964	RETREG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2597	CYP1B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25985	PIGG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/25994	NSUN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2600	CYP21A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26006	TTC19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26013	DNAAF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26019	BPNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2602	CYP24A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26022	TRMT10C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26031	PIGV	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26034	SDHAF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26038	TMEM127	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2605	CYP27A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26050	TMEM70	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26054	SLC25A38	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2606	CYP27B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26090	CCDC40	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2610	CYP2A6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26113	TCTN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26114	EDC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26144	PALB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26147	AGBL5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2615	CYP2B6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26158	ELMOD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26162	PYROXD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26169	CTC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26190	MTMR14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26193	CSPP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26200	STN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2621	CYP2C19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26219	FUZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26222	FAR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2623	CYP2C9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26230	TM4SF20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2625	CYP2D6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26257	PDZD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26262	TTI2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26267	POMK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26270	PIEZO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26274	NARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26291	BBS10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26300	ODAPH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26348	SEPTIN12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26361	HEPACAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2638	CYP3A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26392	PTCHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26401	MARVELD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26404	NADK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26444	UROC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26498	ZNF513	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26504	AGBL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26513	NSMCE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2652	CYP7B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26521	LOXHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26527	HGSNAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26530	CFAP53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26558	HYLS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26559	ZFYVE27	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26560	ODAD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26575	PRIMPOL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26576	KY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26582	UNC80	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26594	DOK7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26600	WDR81	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2661	DAB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26624	KDF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26648	BBS12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2665	CD55	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2666	DAG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26661	RNF168	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26690	CEP120	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26703	SYNE4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2671	DAO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26724	ANKS6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26742	NAT8L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2678	DARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26784	MTRFR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26790	WDR72	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2682	DAZ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26821	CCDC141	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26837	AMER1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26877	CKAP2L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26887	TAPT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2689	DBH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26894	TPRN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26899	TMTC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26901	OTOGL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26922	ERCC6L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26926	JAGN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26927	FOXRED1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26929	CDIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26938	HIKESHI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26944	TMEM138	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26970	COX20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2698	DBT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26988	METTL23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2699	DDX3Y	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2701	DCC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27030	DNAJC21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2705	DCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2707	ACE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2708	DCR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2711	DCTN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2714	DCX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2718	DDB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2719	DDC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27230	ESCO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27232	CFAP418	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2726	DDIT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2728	DDOST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27288	ACSF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27302	IBA57	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2731	DDR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27310	FLCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27337	ANO5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2736	DDX11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27365	TECRL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27375	MSRB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27424	RBM20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2745	DDX3X	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27561	TSEN54	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2770	DES	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2771	CFD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27960	SLC6A19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27962	STING1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2799	GRHL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28018	NIPAL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28027	WDPCP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28033	CCDC174	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28052	XPNPEP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28072	LYRM7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28086	NDUFAF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28093	BBIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2810	GSDME	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28163	CCDC28B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28178	VMA22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/282	ADRA2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28209	CEP19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28213	PIGY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28216	COX14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28249	PHYKPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28261	TBCK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28287	ALG14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28296	DYNC2I2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28303	ODAD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28337	C9orf72	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28358	D2HGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28369	THOC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28385	VWA3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28396	TMEM67	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28403	TRMT10A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28422	TSEN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28423	STAC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2843	DGAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28434	CCNQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2844	DGCR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2845	DGCR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2846	DGCR6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2847	DGCR8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28472	TMEM43	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28486	MFSD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28510	GLIS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2852	DGKE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28526	EOGT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28557	KLHDC8B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28570	DNAAF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2858	DGUOK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2859	DHCR24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28596	B3GALNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/286	ADRB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2860	DHCR7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2861	DHFR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28625	NDUFAF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28636	B9D2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28648	DIS3L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2865	DHH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2867	DHODH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2873	CYB5R3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28741	ILDR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2876	DIAPH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28769	DRAM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2877	DIAPH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/288	ADRB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28844	FBXO38	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28845	MED25	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28852	SYCE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28862	NIPBL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28867	IGF2BP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2888	DISC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28880	MAGT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28883	PPA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28887	LEMD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2889	DISC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2890	DKC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28900	PNPLA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28909	CCDC22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28912	WDR45	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28927	KRT71	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28929	KRT74	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28949	IQCB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2895	EDAR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28956	GPD1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28957	EMC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28958	NUP93	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2896	DLAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2897	DLC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2898	DLD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28984	WASHC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28986	ZNF592	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2899	DLEC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28991	RUBCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28993	PIEZO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29	ABCA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29007	FRMPD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29017	PLEKHM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2902	DLG3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29021	CEP290	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29022	SPECC1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29040	SZT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29043	DSTYK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29059	IQSEC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29068	KATNIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29077	IFT140	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29079	KDM1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29086	CEP135	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2909	DLL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29090	SMCHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29092	OBSL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29099	TELO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/291	ADSL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2910	DLL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29101	ANKLE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29105	PLEKHG5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29106	DDHD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29110	KIAA0753	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29144	EHBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2916	DLX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29160	FASTKD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29168	RPGRIP1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2917	DLX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29170	FAN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29174	WASHC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2918	DLX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29182	CEP164	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29186	ANKRD26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29203	TBC1D24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29215	SHROOM4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29216	ARHGAP31	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29222	ZNF644	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29242	SH3PXD2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29250	WDR35	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29253	CC2D2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29256	SOBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29262	IFT80	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29277	ZNF687	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2928	DMD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29284	DIP2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29298	CEP152	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29300	KANK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29304	UVSSA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29316	ZSWIM6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2932	DMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29326	SLC7A14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2933	DMPK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29331	EPG5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29347	KLHL15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29357	ASXL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2938	DMXL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2939	DNA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29419	EARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2942	DNAH11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29420	RSPRY1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29426	CCBE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29427	SH3TC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29433	NEXMIF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29450	GLIS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29456	TOR1AIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29478	ROGDI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2950	DNAH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29501	GPSM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29502	PJVK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29508	KIDINS220	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29514	GLDN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29515	PLEKHG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29521	C12orf57	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29529	TBL1XR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29536	MAPKBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2954	DNAI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2955	DNAL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29557	NEXN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2956	DNASE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29561	ARV1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29569	LIPT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2959	DNASE1L3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29594	UQCRQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29597	IRGM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29605	SH2B3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2961	DYNC1H1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29634	MEGF10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29643	MLPH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29659	MESP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29666	MTFMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29669	IFT43	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29670	GNPTAB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29673	MFAP5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29679	PAM16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29683	SLC25A32	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29685	IARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2972	DNM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2973	DNM1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2974	DNM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2976	DNMT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2978	DNMT3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2979	DNMT3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29796	LAMTOR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29812	DCPS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29843	NSMF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29853	HECW2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2988	DOCK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29882	ISCU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29914	NUP107	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29918	NDUFAF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2993	DONSON	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29932	COASY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29935	SPATA16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29937	DRC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29941	GATAD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29944	TENM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29945	TENM4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2995	DPAGT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30000	BBS9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30022	PPARGC1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3003	DPH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30032	PACS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30035	PIK3R5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3005	DPM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3006	DPM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3007	DPM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30074	POLR3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30078	REEP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30089	PWAR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3010	DPP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30100	PSENEN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3012	DPYD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3013	DPYS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30171	HSPB8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30172	STRADA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3018	SLC26A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30185	CRBN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30213	ATP13A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30220	RFT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30224	SLC52A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30225	SLC52A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3023	DRD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30237	CC2D1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3024	DRD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30242	TUSC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3025	DRD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3026	DRD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30260	PNPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30262	PYCR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30304	RGS9BP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3033	ATN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30343	DNAJC13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30348	POLR3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3036	DSC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30372	KLHL40	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30391	IFT172	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3048	DSG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3049	DSG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30492	DNAAF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30497	KIF7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30500	PRRT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3052	DSP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30521	SLC46A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30528	DNAJC19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30539	DNAAF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3054	DSPP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30551	TXNL4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3057	DTNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30578	EXPH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30587	SNIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30605	SEPSECS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30611	STT3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30650	STRA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30664	CLPB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30668	SRPX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30696	WDR36	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30718	DNAJB13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3072	DUSP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30740	TARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30760	TMEM165	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30764	TRAIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30765	TNIK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30778	GATAD2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30788	TLE6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30791	UBIAD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30794	CEP57	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30800	TMIE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30802	PNPLA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30829	TUBB2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30831	TDRD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30832	TRAPPC9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30836	POC1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30839	KRT25	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3084	DVL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30858	EFTUD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30859	SNRNP200	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3087	DVL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30881	ALG13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30883	TMEM126B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30892	HUWE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3091	DYRK1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3092	DYRK1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30922	LINS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30927	SLC6A20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30935	YY1AP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30939	ZFHX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3097	DYSF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30972	SECISBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3098	TOR1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3133	EBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31371	GPR179	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31399	SLC6A17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3143	EBVS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3146	ECE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3147	ECEL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3148	TYMP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/315	AFG3L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3151	ECHS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3153	ECM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31555	MIR184	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3157	EDA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31582	MIR204	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31648	MIR96	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31670	ENO4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31673	GRXCR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3169	S1PR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/317	AFP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3176	EDN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3178	EDN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3179	EDNRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/318	AGA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3180	EDNRB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3182	PHC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/319	ACAN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3192	EEF1A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31923	LCA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31928	NBEAL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31948	CEACAM16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/321	AGL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3214	EEF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3218	EFEMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3219	EFEMP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3226	EFNB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3229	EGF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3233	MEGF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3236	EGFR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3239	EGR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32434	SLC38A8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32456	ALG11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3247	EHHADH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/325	AGPAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32528	PRCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3255	EIF2AK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32550	ZBTB42	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3257	EIF2B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3258	EIF2B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3259	EIF2B3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3260	EIF2B4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3261	EIF2B5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3267	EIF2S3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32685	ARMS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32689	SLFN14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32698	DUOXA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/327	AGPS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32700	DNAAF19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3287	EIF4E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/329	AGRN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32925	ATXN8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32940	NKX2-6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32952	SNORD118	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3296	EIF4G1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33	ABCA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/330	AGRP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33020	SNORD115-1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33067	SNORD116-1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3309	ELANE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33235	PWRN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3327	ELN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/333	AGT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3330	EML1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3331	EMD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3334	EMP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3337	ADGRE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3341	EMX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33425	MIAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3344	ENAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3349	ENG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3354	ENO3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3356	ENPP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/336	AGTR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3363	ENTPD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33699	KHDC3L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3373	EP300	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3374	EPAS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3377	EPB41	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33778	MYMK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3378	EPB41L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3381	EPB42	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3383	STOM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33848	COA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3386	EPHA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33862	GRXCR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33867	SDHAF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3393	EPHB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3395	EPHB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/34	ABCA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3401	EPHX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/34016	RNU4ATAC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3402	EPHX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/341	AGXT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3413	EPM2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3415	EPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3416	EPOR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3420	EPS8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/343	AHCY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3430	ERBB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3431	ERBB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3432	ERBB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3433	ERCC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3434	ERCC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3435	ERCC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3436	ERCC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3437	ERCC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3438	ERCC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/34383	PCARE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3439	ERCC8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/34399	UQCC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3444	ERF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3467	ESR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3473	ESRRB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3481	ETFA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3482	ETFB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3483	ETFDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3495	ETV6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3497	EVC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3498	MECOM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3508	EWSR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3512	EXT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/35126	BHLHA9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3513	EXT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3519	EYA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3522	EYA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3527	EZH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3528	F10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3529	F11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3530	F12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3531	F13A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3534	F13B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3535	F2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3542	F5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3544	F7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3546	F8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3551	F9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3553	FAAH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3571	ACSL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3573	FADD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3579	FAH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/358	AIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3582	FANCA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3583	FANCB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3584	FANCC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3585	FANCD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3586	FANCE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3587	FANCF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3588	FANCG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/359	AIPL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/360	AIRE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3600	FBLN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3602	FBLN5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3603	FBN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3604	FBN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3606	FBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/361	AK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3616	FCGR2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3618	FCGR2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3619	FCGR3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/362	AK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3622	FKTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3625	FCN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3631	FDPS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3647	FECH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3661	FGA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3662	FGB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3663	FGD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3666	FGF10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3668	FGF12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3671	FGF14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3672	FGF16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3673	FGF17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3677	FGF20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/368	AKAP10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3680	FGF23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3681	FGF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3683	FGF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3686	FGF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3687	FGF9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3688	FGFR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3689	FGFR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3690	FGFR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3693	FGFRL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3694	FGG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/37	ABCA7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3700	FH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3702	FHL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3705	FIBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3706	ATP8B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3721	FKBP5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/37212	KLLN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/37227	KBTBD13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/37234	TMEM231	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/37276	CRPPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3748	FLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3754	FLNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3755	FLNB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3756	FLNC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3762	FLRT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3765	FLT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3767	FLT4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3771	FMO3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3775	FMR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3776	AFF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3778	FN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/379	AKAP9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3791	FOLR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3800	FOXC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3801	FOXC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3804	FOXD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3806	FOXE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3808	FOXE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3809	FOXF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3811	FOXG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3815	FOXI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3819	FOXO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3823	FOXP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/385	AKR1C2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3858	FRA16B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3861	FRA16E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/387	AKR1C4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/388	AKR1D1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/39080	KCNJ18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/391	AKT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/392	AKT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/393	AKT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3942	MTOR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/39433	PRSS56	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3948	FRAXD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/395	ALAD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3951	FXN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3954	FRG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3959	FRZB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3960	FSCN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3964	FSHB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3969	FSHR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/397	ALAS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3974	FTCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3976	FTH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/399	ALB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3999	FTL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/40	ABCB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/40038	PET100	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4006	FUCA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4010	FUS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4012	FUT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4017	FUT6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4026	FXYD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/403	ALDH3A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4035	ACKR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4036	FYB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/404	ALDH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4042	FZD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4044	FZD6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4053	ISG15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4056	G6PC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4057	G6PD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/406	ALDH4A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4061	SLC37A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4065	GAA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4075	GABRA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4076	GABRA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/408	ALDH5A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4081	GABRB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4083	GABRB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4084	GABRD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4087	GABRG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/409	ALDH1A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4092	GAD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4114	GAL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4115	GALC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4116	GALE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4118	GALK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4122	GALNS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4135	GALT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4136	GAMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4137	GAN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4138	GANAB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/414	ALDOA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4162	GARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4166	DRC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/417	ALDOB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4170	GATA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4171	GATA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4172	GATA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4173	GATA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4174	GATA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4175	GATM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4177	GBA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4180	GBE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4189	GCDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4192	GCGR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4193	GCH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4195	GCK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4198	GCM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/42	ABCB11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4204	GCNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4206	OPN1MW	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4208	GCSH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4214	GDF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4217	GDF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4218	GDF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4220	GDF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4221	GDF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4223	MSTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4226	GDI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4232	GDNF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4235	GFAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4236	GFER	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4237	GFI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4238	GFI1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4241	GFPT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4247	GGCX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4250	GGT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4261	GH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4263	GHR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4266	GHRHR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4268	CBLIF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/427	ALK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4274	GJA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4277	GJA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4279	GJA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/428	ALMS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4281	GJA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4283	GJB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4284	GJB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4285	GJB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4286	GJB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4288	GJB6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4289	GK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4296	GLA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4298	GLB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/43	TAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/430	ALOX12B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4311	GCLC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4312	GCLM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4313	GLDC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4315	GLE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4318	GLI2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4319	GLI3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4326	GLRA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4329	GLRB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4335	GLUD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4336	GLUD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4341	GLUL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/435	ALOX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/436	ALOX5AP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4367	GM2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/438	ALPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4385	GNAI2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4387	GNAI3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4388	GNAL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4389	GNAO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4390	GNAQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4392	GNAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4393	GNAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4394	GNAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4396	GNB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/44	TAP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4400	GNB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4401	GNB5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4415	GNMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4416	GNPAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4419	GNRH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4421	GNRHR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4422	GNS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4428	GOLGA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/443	ALS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4431	GOSR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4439	GP1BA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4440	GP1BB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4444	GP9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/445	SETX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4451	GPC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4452	GPC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4454	GPC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4455	GPD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4456	GPD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4458	GPI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/449	ALX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/45	ABCB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/450	ALX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4507	GABBR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/451	AMACR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4510	KISS1R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4512	ADGRG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4516	ADGRG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4519	GPR68	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/452	AMBN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4539	GPR88	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4551	TECR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4553	GPX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4556	GPX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4570	GRHPR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4573	GRIA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4576	GRID2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4580	GRIK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4584	GRIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4585	GRIN2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4586	GRIN2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4588	GRIN2D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4593	GRM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4598	GRM6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4601	GRN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/461	AMELX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4612	GSC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4620	GSN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4624	GSS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/464	AMH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/465	AMHR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4651	GTF2E2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/467	AMMECR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4678	GUCA1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4679	GUCA1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/468	AMPD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4685	GUCY1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4688	GUCY2C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4689	GUCY2D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/469	AMPD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4696	GUSB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4699	GYG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/47	ABCB6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/470	AMPD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4702	GYPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4703	GYPB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4704	GYPC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4706	GYS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4707	GYS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4713	H19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/473	AMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4795	H6PD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4798	HABP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4799	HADH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/48	ABCB7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4800	HSD17B10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4801	HADHA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4803	HADHB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4805	HAGH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4806	HAL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4814	KALRN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4816	HARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4817	HARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4823	HBA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4824	HBA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4827	HBB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/483	ANG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4832	HBG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4837	HCCS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4838	SERPIND1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4839	HCFC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4845	HCN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4847	HCRT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4851	HTT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4855	HDC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4861	HELLS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4867	HERC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4868	HERC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4877	HESX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4878	HEXA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4879	HEXB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4883	CFH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4886	HFE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4887	HJV	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4888	CFHR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4892	HGD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4893	HGF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4908	HIBCH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/491	ANGPTL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4912	HINT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4913	HIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/492	ANK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4921	HIVEP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4922	HK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/493	ANK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4931	HLA-A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4932	HLA-B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4933	HLA-C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/494	ANK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4942	HLA-DQA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4944	HLA-DQB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4948	HLA-DRB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/496	RIPK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4964	HLA-G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/497	TRPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4976	HLCS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4979	MNX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4982	HMBS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5004	HMGB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5005	HMGCL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5008	HMGCS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5009	HMGA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5010	HMGA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5012	HMMR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5013	HMOX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5017	HMX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5024	HNF4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5028	HNMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5031	HNRNPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5033	HNRNPA2B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5037	HNRNPDL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5042	HNRNPH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5044	HNRNPK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5099	HOXA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5101	HOXA11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5102	HOXA13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5103	HOXA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5111	HOXB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5125	HOXC13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5133	HOXD10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5136	HOXD13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5141	HP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5144	HPCA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5147	HPD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5154	HPGD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5157	HPRT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5163	HPS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5166	HPV18I1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5167	HPV18I2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5172	HR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5173	HRAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5181	HRG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5201	HS6ST1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5208	HSD11B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5209	HSD11B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5212	HSD17B3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5213	HSD17B4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5218	HSD3B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5227	HSF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5228	DNAJB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5244	HSPA9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5246	HSPB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5248	HSPB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5261	HSPD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5273	HSPG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5285	HTOR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5286	HTR1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5293	HTR2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/53	ABCC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5318	TNC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5320	HYAL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5326	HYMAI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5330	IARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5331	NOD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5344	ICAM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5351	ICOS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5358	IRF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5382	IDH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5383	IDH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5385	IDH3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5389	IDS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5391	IDUA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5394	CFI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5401	SP110	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5414	IFITM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/543	ANXA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5433	IFNAR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5438	IFNG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5439	IFNGR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5440	IFNGR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5461	IGBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5464	IGF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5465	IGF1R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5466	IGF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5467	IGF2R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5468	IGFALS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5476	IGFBP7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5541	IGHM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5542	IGHMBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/559	AP1S1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/565	AP2S1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/566	AP3B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/567	AP3B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/568	AP3D1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/57	ABCC6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5716	IGKC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/572	AP4B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5724	RBPJ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/573	AP4E1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/574	AP4M1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/575	AP4S1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/582	APBB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/583	APC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5870	IGLL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/59	ABCC8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/592	XIAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5948	IGSF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5950	IGSF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5956	IHH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5959	ELP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5960	IKBKB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5961	IKBKG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5962	IL10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5964	IL10RA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5965	IL10RB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5967	IL11RA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5970	IL12B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5971	IL12RB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5973	IL13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5985	IL17RA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5992	IL1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5996	IL1RAPL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/60	ABCC9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/600	APOA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6000	IL1RN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6005	IL21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6006	IL21R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6008	IL2RA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/601	APOA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6010	IL2RG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6015	IL4R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6018	IL6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6024	IL7R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6026	CXCR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/603	APOB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6050	IMPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6052	IMPDH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6055	IMPG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6062	ING1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6080	INPPL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6081	INS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6086	INSL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/609	APOC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6091	INSR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/61	ABCD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/610	APOC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6106	FOXP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6107	PDX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6109	IPW	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6116	IRF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6118	IRF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6120	IRF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6121	IRF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6122	IRF7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6125	IRS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6126	IRS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/613	APOE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6137	ITGA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6138	ITGA2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6139	ITGA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6142	ITGA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6143	ITGA7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6144	ITGA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6149	ITGAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6155	ITGB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6156	ITGB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6158	ITGB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6161	ITGB6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6169	ITIH4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6171	ITK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6172	STT3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6174	ITM2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6176	ITPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/618	APOL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6180	ITPR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6181	ITPR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6182	ITPR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6186	IVD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6188	JAG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/619	APOL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6192	JAK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6193	JAK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/620	APP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6207	JUP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6210	CD82	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6211	ANOS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6215	KARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6217	KATNB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6218	KCNA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6220	KCNA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6224	KCNA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6231	KCNB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6233	KCNC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6235	KCNC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6239	KCND3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6240	KCNE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6242	KCNE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6243	KCNE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6250	KCNH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6251	KCNH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6255	KCNJ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6256	KCNJ10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6257	KCNJ11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6259	KCNJ13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/626	APRT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6263	KCNJ2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6266	KCNJ5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6267	KCNJ6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6278	KCNK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6283	KCNK9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6284	KCNMA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6293	KCNN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6294	KCNQ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6295	KCNQ1OT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6296	KCNQ2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6297	KCNQ3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6298	KCNQ4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6307	KDR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6309	KERA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6315	KHK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6317	KIF1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6318	KIF2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6323	KIF5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6325	KIF5C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6338	KIR3DL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/634	AQP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6341	KISS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6342	KIT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6343	KITLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6345	KLF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6354	KLHL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6357	KLK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6365	KLK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6371	KLKB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6383	KNG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6388	KIF11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6391	KIF22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6404	KPTN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6407	KRAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6408	MAFB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6412	KRT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6413	KRT10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6414	KRT12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6415	KRT13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6416	KRT14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6423	KRT16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6427	KRT17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6439	KRT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/644	AR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6440	KRT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6441	KRT4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6442	KRT5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6443	KRT6A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6444	KRT6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6447	KRT9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6458	KRT81	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6460	KRT83	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6462	KRT85	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6463	KRT86	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6469	KYNU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6470	L1CAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6481	LAMA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6482	LAMA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6483	LAMA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6484	LAMA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6486	LAMB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6487	LAMB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/649	ARCN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6490	LAMB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6493	LAMC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6494	LAMC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6501	LAMP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6502	RPSA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6511	LARGE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6512	LARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6518	LBR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6522	LCAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6524	LCK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6530	LCT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6535	LDHA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6541	LDHB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6545	COG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6547	LDLR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6553	LEP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6554	LEPR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6556	LETM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6560	LFNG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6562	LGALS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6572	LGI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6584	LHB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6585	LHCGR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6595	LHX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6597	LIFR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6601	LIG4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6610	LIM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6617	LIPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6619	LIPC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6621	LIPE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/663	ARG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6631	LMAN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6636	LMNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6637	LMNB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6638	LMNB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6649	LMOD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6654	LMX1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6663	LORICRIN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6664	LOX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6665	LOXL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6677	LPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6685	LRAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6692	LRP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6694	LRP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6696	LRP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6697	LRP5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6698	LRP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/67	ABCD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6700	LRP8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6701	LRPAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6708	LSS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6709	LTA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6715	LTBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6716	LTBP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6717	LTBP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6719	LTC4S	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6740	LYZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6741	LZTFL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6742	LZTR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6758	MAB21L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6762	MAD1L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6764	MAD2L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6769	SMAD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6770	SMAD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6772	SMAD6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6773	SMAD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6774	SMAD9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6776	MAF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/678	ARHGDIA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6783	MAG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/68	ABCD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6814	MAGEL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6816	MAK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6819	MALT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6823	MAN1B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6826	MAN2B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6831	MANBA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6833	MAOA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6840	MAP2K1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6842	MAP2K2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6848	MAP3K1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/685	ARHGEF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6853	MAP3K14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6859	MAP3K7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6860	MAP3K8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6882	MAPK8IP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6888	MAPKAPK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6891	MAPRE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6893	MAPT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6898	MARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6901	MASP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6902	MASP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6903	MAT1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6909	MATN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/691	PHOX2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6912	MATR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6913	MAX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6922	MBL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6929	MC1R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6930	MC2R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6931	MC3R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6932	MC4R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6936	MCCC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6937	MCCC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6938	CHST6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6944	MCM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6947	MCM4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6949	MCM6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6953	CD46	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6954	MCPH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/697	ARL6IP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6971	MDH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6973	MDM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6990	MECP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6993	MEF2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6996	MEF2C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6998	MEFV	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7	A2M	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7001	MEIS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7010	MEN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7013	MEOX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7027	MERTK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7029	MET	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7045	MGAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7060	MGP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7067	CIITA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7095	MID1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7096	MID2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7097	MIF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7102	MINPP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7103	MIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7104	MIPEP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7105	MITF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7106	ATXN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7108	MKKS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7114	MKRN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7121	MKS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7127	MLH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7128	MLH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/713	ARSA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7132	KMT2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7133	KMT2D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/714	ARSB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7146	TRPM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7150	MLYCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7154	MME	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7155	MMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7159	MMP13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7160	MMP14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7165	MMP19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7166	MMP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7167	MMP20	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7173	MMP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7176	MMP9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7179	ALDH6A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7180	MN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/719	ARSL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7190	MOCS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7193	MOCS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7197	MOG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7207	MPDU1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7208	MPDZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7216	MPI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7217	MPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7218	MPO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7224	MPV17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7225	MPZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7230	MRE11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7315	MS4A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7316	MS4A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7323	SEPTIN9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7325	MSH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7326	MSH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7329	MSH6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/735	ASAH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7372	MSMB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7373	MSN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7376	MSR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/738	ASCL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7381	MST1R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7391	MSX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7392	MSX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7414	MT-ATP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7419	MT-CO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7421	MT-CO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7422	MT-CO3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7427	MT-CYB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7432	MTHFD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7436	MTHFR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7448	MTM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7450	MTMR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7455	MT-ND1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7456	MT-ND2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7459	MT-ND4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/746	ASL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7460	MT-ND4L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7461	MT-ND5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7462	MT-ND6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7464	MTNR1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7467	MTTP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7468	MTR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7470	MT-RNR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7473	MTRR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7477	MT-TC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7481	MT-TF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7488	MT-TI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7489	MT-TK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7490	MT-TL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7493	MT-TN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7494	MT-TP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7495	MT-TQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7497	MT-TS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7498	MT-TS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7499	MT-TT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7500	MT-TV	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7501	MT-TW	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7508	MUC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7516	MUC5B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7518	MUC7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7523	TRIM37	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7525	MUSK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7526	MMUT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7527	MUTYH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7529	MVD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/753	ASNS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7530	MVK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7534	MXI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7549	MYBPC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7551	MYBPC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7553	MYC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7559	MYCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/756	ASPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7562	MYD88	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7566	MYF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7569	MYH11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/757	ASPH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7572	MYH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7573	MYH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7576	MYH6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7577	MYH7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7578	MYH8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7579	MYH9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/758	ASS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7583	MYL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7584	MYL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7585	MYL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7590	MYLK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7594	MYO15A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7595	MYO1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7599	MYO1E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7601	MYO3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7602	MYO5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7603	MYO5B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7605	MYO6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7606	MYO7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7609	MYO9B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7610	MYOC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7623	MYT1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7631	NAGA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7632	NAGLU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7646	NAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7652	NBN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7660	NCF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7661	NCF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7662	NCF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7671	NCOA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7675	NDN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7677	NSMCE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7678	NDP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7679	NDRG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7680	NDST1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7683	NDUFA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7684	NDUFA10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7685	NDUFA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7693	NDUFA9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7698	NDUFB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7704	NDUFB9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7707	NDUFS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7708	NDUFS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7710	NDUFS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7711	NDUFS4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7713	NDUFS6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7714	NDUFS7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7715	NDUFS8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7716	NDUFV1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7717	NDUFV2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7720	NEB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7728	NEDD4L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7737	NEFH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7739	NEFL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7744	NEK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7745	NEK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/775	SERPINC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7758	NEU1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7762	NEUROD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7765	NF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/777	ZFHX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7773	NF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7784	NFIA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7788	NFIX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/779	ATCAY	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7794	NFKB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7795	NFKB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7797	NFKBIA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7800	NFKBIL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7808	NGF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7820	NHS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7849	NME1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7856	NQO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7863	NNT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7865	NODAL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7866	NOG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7869	NOL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7871	NONO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7873	NOS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7876	NOS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7881	NOTCH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7882	NOTCH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7883	NOTCH3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7892	PNP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7897	NPC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7905	NPHP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7907	NPHP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7908	NPHS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/791	ATF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7939	NPPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/794	ATIC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7944	NPR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/795	ATM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7960	NR0B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7961	NR0B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7967	NR1H4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7974	NR2E3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7975	NR2F1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7976	NR2F2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7978	NR3C1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7979	NR3C2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7981	NR4A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7982	NR4A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7983	NR5A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7989	NRAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7997	NRG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/800	ATP1A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8002	NRL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8008	NRXN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/801	ATP1A3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8011	CNTNAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8021	NT5E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8022	NT5C2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8024	NTF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8028	NTHL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8031	NTRK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8032	NTRK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/804	ATP1B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8059	NUMA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8063	NUP155	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8064	NUP214	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8066	NUP62	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8079	FRMD7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8082	NYX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8086	OAS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8091	OAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8101	OCA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8104	OCLN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8108	OCRL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/811	ATP2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/812	ATP2A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8124	OGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8125	OGG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8133	OLR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8140	OPA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8142	OPA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8143	OPCML	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8148	OPHN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8149	OPLAH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/815	ATP2B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8157	SIGMAR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/823	ATP5F1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/838	ATP5F1E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/84	ACACA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8487	ORC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8490	ORC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8507	OSMR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8512	OTC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8515	OTOF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8516	OTOG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8522	OTX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8527	OXCT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/853	ATP6V1B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8533	P2RX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/854	ATP6V1B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8547	P4HA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8548	P4HB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8549	BLOC1S6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8565	PABPN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8574	PAFAH1B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8582	PAH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8583	SERPINE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8592	PAK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8604	PAPSS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8607	PRKN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8609	PARN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8615	PAX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8616	PAX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8617	PAX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8618	PAX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8619	PAX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8620	PAX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8621	PAX7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8622	PAX8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8623	PAX9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8624	PAXIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8636	PC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8646	PCBD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8653	PCCA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8654	PCCB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/866	ATP6V0A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/868	ATP6AP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/869	ATP7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/87	ACAD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/870	ATP7B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8724	PCK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8725	PCK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8727	PCM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8729	PCNA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8740	CHMP1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8743	PCSK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8754	PCYT1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8761	PDCD10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8768	AIFM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/877	ALDH7A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8772	PDE10A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8773	PDE11A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8778	PDE3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8783	PDE4D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8785	PDE6A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8786	PDE6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8787	PDE6C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8788	PDE6D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8789	PDE6G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8790	PDE6H	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8794	PDE8B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8800	PDGFB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8803	PDGFRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8804	PDGFRB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8805	PDGFRL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8806	PDHA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8808	PDHB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8818	SLC26A4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/882	ATR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8820	PDYN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8824	SERPINF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8840	PEPD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8846	PER2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8847	PER3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8850	PEX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8851	PEX10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8853	PEX11B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8854	PEX12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8855	PEX13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8856	PEX14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8857	PEX16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8858	PEX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8859	PEX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/886	ATRX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8860	PEX7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8864	CFP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8877	PFKM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/888	KIF1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8881	PFN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8885	PGA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8889	PGAM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8896	PGK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/89	ACADM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/890	AUH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8907	PGM3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8910	PGR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8912	PHB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8918	PHEX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8923	PHGDH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8925	PHKA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8926	PHKA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8927	PHKB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8931	PHKG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/894	AVP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8940	PHYH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8941	SERPINA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8943	SERPINI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8950	SERPINB6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8952	SERPINB8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8957	PIGA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8966	PIGL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8967	PIGN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/897	AVPR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8975	PIK3CA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8977	PIK3CD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8979	PIK3R1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8980	PIK3R2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8983	PI4KA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8996	PIP5K1C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/90	ACADS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9004	PITX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9005	PITX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9006	PITX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9008	PKD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9009	PKD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9016	PKHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9020	PKLR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9023	PKP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9024	PKP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/903	AXIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9038	PLA2G5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9039	PLA2G6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/904	AXIN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9040	PLA2G7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9045	PLAG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9046	PLAGL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/905	AXL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9051	PLAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9052	PLAU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9059	PLCB4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9060	PLCD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9066	PLCG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9067	PLD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9069	PLEC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9071	PLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9075	SERPINF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9076	PLIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9080	PLN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9081	PLOD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9082	PLOD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9083	PLOD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9086	PLP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/91	ACADSB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9115	PMM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9118	PMP22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9121	PMS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9122	PMS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/914	B2M	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9141	PMVK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9142	PRRX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9143	PHOX2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9153	PNKD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9154	PNKP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9155	PNLIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9173	POLA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9175	POLD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9177	POLE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9179	POLG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9180	POLG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9181	POLH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/92	ACADVL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9201	POMC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9202	POMT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9204	PON1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9208	POR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9210	POU1F1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9217	POU3F4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9220	POU4F3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/923	B3GAT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9236	PPARG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/924	B4GALT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9251	CTSA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9255	PPIB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9277	PPM1D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9279	PDP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9280	PPOX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9291	PPP1R3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/93	ACAT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/930	B4GALT7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9302	PPP2R1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9303	PPP2R1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9305	PPP2R2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9312	PPP2R5D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/932	BAAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9325	PPT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9330	PQBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9343	PRCC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9349	PRDM5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9350	PRDM6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9359	SLC26A5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9360	PRF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9364	PRG4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9380	PRKACA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9382	PRKACG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9386	PRKAG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9388	PRKAR1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/939	BAG3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9399	PRKCD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/94	ACAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9402	PRKCG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9403	PRKCH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9411	PRKCSH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9413	PRKDC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9414	PRKG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9438	PRKRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9439	DNAJC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9446	PRLR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9449	PRNP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9451	PROC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9453	PRODH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9454	PROM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9455	PROP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9456	PROS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9457	PLPBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9460	PROZ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9461	PRPH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9462	PRPS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9475	PRSS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9476	HTRA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9477	PRSS12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9479	LONP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9483	PRSS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9490	TMPRSS15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9498	PSAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/95	SLC33A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/950	BAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9508	PSEN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9509	PSEN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/951	NKX3-2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/952	BARD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9535	PSMA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9545	PSMB8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9577	PSPH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9580	PSTPIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9585	PTCH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9586	PTCH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9587	PTDSS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9588	PTEN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9591	PTGDR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9594	PTGER2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9603	PTGIS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9606	PTH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9607	PTHLH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9608	PTH1R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9642	PTPN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9644	PTPN11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9647	PTPN14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9652	PTPN22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/966	BBS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9666	PTPRC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/967	BBS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9670	PTPRF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9678	PTPRO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9679	PTPRQ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9685	PTPRZ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9688	CAVIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9689	PTS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/969	BBS4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/970	BBS5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9701	PURA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9706	NECTIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9713	PEX19	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9717	PEX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9719	PEX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9721	PYCR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9722	ALDH18A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9725	PYGL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9726	PYGM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9751	QARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9752	QDPR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9766	RAB27A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9768	RAB28	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9788	RAB7A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9802	RAC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9811	RAD21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9816	RAD50	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9817	RAD51	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9820	RAD51C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9823	RAD51D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9826	RAD54L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9829	RAF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9831	RAG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9832	RAG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9834	RAI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9848	RANBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/986	BCKDHA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9863	RAPSN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9864	RARA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9865	RARB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/987	BCKDHB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9870	RARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9871	RASA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9879	RASGRP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9882	RASSF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9884	RB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/989	BCL10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9891	RBBP8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9896	RBM10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9905	RBM8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9910	RBMX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9912	RBMY1A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9921	RBP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9922	RBP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9936	OPN1LW	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9940	RDH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9942	PRPH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9944	RDX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9949	RECQL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9957	RELN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9958	REN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9965	RERE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9966	REST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9967	RET	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9986	RFX5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9987	RFXANK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9988	RFXAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9990	RGR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8067	NUP88	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100393557	ATXN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100401034	PSEN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100407052	APP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100412740	LRRK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100414871	FMR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/21304	ADPRS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8819	PDXK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/17748	DACT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30546	FDX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26789	LACC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26801	COX18	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26933	SPOUT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26953	BLTP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26973	C10orf71	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26974	PDZD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26991	TMEM132E	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2709	DCT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2717	DDB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2739	DHX16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2740	DDX17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2750	DHX9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28128	TMEM107	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28188	CFAP300	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28199	BUD13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28313	TET3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28460	HROB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28466	POLR3GL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28482	DYNLT2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28520	TERB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28532	KIAA0825	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28569	MEIOB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28613	MEI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28672	CYBC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2869	DHPS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28722	COQ5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2883	DIO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28952	NCAPD3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28971	SPIDR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28980	GINS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28983	TMEM94	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29010	SETD1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29012	KDM6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29029	TTI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2903	DLG4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29035	PPIP5K2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2904	DLG5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29046	FBXO28	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29100	RRP12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2911	DLST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29112	IQSEC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29118	TMEM63A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29162	FAM149B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29190	TNRC6B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29296	CCDC146	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29361	SELENOI	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29366	CEP295	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2940	DNAH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2943	DNAH12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2946	DNAH17	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2948	DNAH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2952	DNAH8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2953	DNAH9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29619	MPEG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2962	DYNC2H1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29636	MNS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29675	CLCC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29824	MYL11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29866	NFASC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29877	UBAP2L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2989	DOCK3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3004	DPH2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30076	POLR3C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30129	POP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30142	GDF15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30207	ARHGAP29	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30228	PREPL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30238	WLS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3029	DRG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/303	AEBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30365	ENOSF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3037	DSC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30563	PARS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30594	UNC45A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30595	PPP1R21	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3061	DTYMK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30632	SUPT7L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30661	UBA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30705	SPATA22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3078	DUT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30889	ATP5MK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31042	GREB1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3188	EED	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32	ABCA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3211	EEF1D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3275	EIF3F	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/328	AGR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3284	EIF4A2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3300	EIF5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3319	ELF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3332	MARK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33551	NDUFAF8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33702	MICOS13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33782	PTRHD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3380	EPB41L3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3418	EPRS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3446	ERG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3449	ERN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/348	AHR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3496	MPZL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3596	FAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3670	FGF13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/37216	LIPT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3722	FKBP6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/37247	BORCS8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3750	FLII	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3766	FLT3LG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3816	FOXJ1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3817	FOXL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/40045	PET117	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4019	FUT8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4021	KDSR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4023	FXR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4040	FZD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4043	FZD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4070	GABBR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4078	GABRA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4082	GABRB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4124	GALNT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4125	GALNT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4161	LRRC32	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4181	GBF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4224	GDF9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4243	GFRA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4249	GGPS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4267	GHSR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4317	GLI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4384	GNAI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4398	GNB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4425	GOLGA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4462	GPNMB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4562	GRAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4599	GRM7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4662	GTF3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4669	GTPBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4693	GUK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4764	H3-3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4765	H3-3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4787	H4C3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4790	H4C5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4793	H4C9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4807	HAND1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4808	HAND2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4840	HCK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/485	ANGPT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/48626	CHASERR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4890	CFHR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4927	SLC39A7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4978	HLX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4983	HMGB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5035	HNRNPC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5041	HNRNPH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5047	HNRNPR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5048	HNRNPU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5112	HOXB13	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5193	HS2ST1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5226	HSF2BP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/52293	PERCC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/52391	MYMX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5275	KAT5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5321	HYAL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/535	ANXA11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5384	IDH3A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5386	IDH3G	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/53924	NOTCH2NLC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5432	IFNAR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/554	AP1B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/555	AP1G1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/560	AP1S2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/564	AP2M1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5972	IL12RB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6074	INPP4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6112	IRAK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6119	IRF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6128	IRS4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6150	ITGAV	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6189	JAG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6190	JAK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6196	JARID2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/621	NAE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6234	KCNC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6254	KCNH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6292	KCNN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6320	KIF3B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6359	KLK11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/638	AQP5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6396	KPNA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6473	AFF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6529	LCP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/654	ARF3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6600	LIG3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6645	PRICKLE3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6653	LMX1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/667	RHOA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6735	LYN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6743	CAPRIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6757	MAB21L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6766	MADD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6768	SMAD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6827	MAN2C1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6855	MAP3K3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/686	RHOH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6889	MAPKAPK5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6915	MB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6919	MBD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/694	ARL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6946	MCM3AP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/704	ARPC1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/707	ARPC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/708	ARPC5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/710	ARR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7199	MOS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7227	MRAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7327	MSH4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7328	MSH5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7437	MTHFS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7487	MT-TH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7565	MYF5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7618	PPP1R12A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7643	NARS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7687	COXFA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7690	NDUFA6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7692	NDUFA8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7703	NDUFB8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7706	NDUFC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7763	NEUROD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7764	NEUROG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7775	NFATC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7782	NFE2L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7785	NFIB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7801	TONSL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7828	NIT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7853	NME5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7879	CNOT3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7887	NOVA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7952	NPTX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7985	NR6A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7994	NRCAM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8016	NSF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8029	NTN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8049	NUDT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8087	OAS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8127	OGT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/843	ATP5MC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/850	ATP5PO	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/851	ATP6V1A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8514	CLDN11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/855	ATP6V0C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/857	ATP6V1E1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8590	PAK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/865	ATP6V0A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8734	NUP85	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8756	PCYT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8777	PDE2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8905	PGM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8959	PIGB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8960	PIGC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8962	PIGF	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8964	PIGH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8965	PIGK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8971	PIK3C2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8984	PI4KB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9035	PLA2G4A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9043	PLAA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9056	PLCB3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9090	PLS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9091	PLS3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9099	PLXNA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9119	PMPCB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9165	SEPTIN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9176	POLD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9200	POLRMT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9247	PPFIA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9249	PPFIBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9260	PPIL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9282	PPP1CB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9299	PPP2CA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9308	PTPA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9311	PPP2R5C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9314	PPP3CA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9354	PRDX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9369	PRIM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9390	PRKAR1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9407	PRKD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/941	BAG5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9416	PRKG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9529	PSKH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9538	PSMB10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9557	PSMD12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9639	HACD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9673	PTPRJ	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9761	RAB11B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/977	BCAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9801	RAC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9804	RACGAP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9839	RALA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9853	IPO8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9857	RAP1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9859	RAP1GDS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9878	RASGRP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9890	RBBP7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9894	RBL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9898	RBM12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9948	RECQL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9969	RFC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9972	RFC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9984	RFX3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9985	RFX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26780	DAND5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26799	C2orf69	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26814	RILPL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26820	CYP4F22	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26941	UFC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26956	INO80	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26965	PTPMT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26993	ZSWIM7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27015	CMPK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27344	TMEM218	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2747	DDX6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2760	DEF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27609	EMC10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27729	RNF212	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/27845	SOHLH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28005	CTU2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28214	FRMD5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28226	GINS4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28242	HPDL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28295	CCDC32	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28380	SLC25A42	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28395	SGMS2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28416	CCDC26	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28467	FAAP24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28494	ACTL9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28497	TMEM151A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28506	CFAP251	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28514	CEP112	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28521	FBXO43	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28583	RSPO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28660	ISCA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28662	DOHH	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28762	AFG2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28858	P4HTM	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28870	MDFIC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/289	GRK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/28905	YRDC	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29002	FCHO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2908	DLL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29127	FRYL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29136	KDM4B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29150	DIP2C	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29171	IQCE	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29183	TBC1D2B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29185	PLCH1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29187	SETD1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29204	SVBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29205	ERGIC1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29217	PRR12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29239	INTU	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29255	USP53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29259	TAOK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29271	ZNFX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29350	IQCN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29368	CFAP74	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29393	PLIN4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2941	DNAH10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29415	ZNF526	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29418	FNIP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29500	FCSK	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2960	DNASE2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29622	MCAT	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29623	MAN2B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2964	DYNC1I2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29678	MSTO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29682	GFM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29832	NADSYN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29861	CHRDL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29873	NKAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29915	NUP210L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29936	TTC29	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29947	TRAK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/29958	SDR9C7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30031	PI4K2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30064	PBRM1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30162	EXOC3L2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30203	WDR83OS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30212	TANC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30227	SPPL2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30373	DNMBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30414	TMEM147	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3046	PIGP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3050	DSG3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30511	YIF1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30550	MARCHF6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30723	CCDC62	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30726	CFAP70	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30739	TMX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30761	TTC21A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30782	NAA15	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30887	TRAPPC2L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30910	VWA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30988	BNC2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31406	WDR37	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31527	MIR140	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31708	LRP12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/31750	SAMD12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3262	AGO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32621	SNORA31	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3263	AGO2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32669	TRIM71	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32687	MED11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32695	SKOR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/32949	SMPD4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33154	ELFN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33230	ZNF808	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33276	FLG2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33630	PATL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33720	CFAP221	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33814	AK9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33882	INPP5K	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33914	MINAR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/33939	CLRN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/34033	RNU7-1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3424	ERAL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/34390	MAP1LC3B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/35123	FOXI3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3629	FDFT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3649	FEM1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3682	FGF4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/373	AKAP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3749	FLI1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3798	FOSL2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/3945	FRAXA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/40050	MCIDAS	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4077	GABRA3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4079	GABRA5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4117	B4GALNT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4327	GLRA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4332	BICRA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/43444	MYZAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4379	GNA11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4433	GOT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4531	OXGR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4571	GRIA1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4572	GRIA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4574	GRIA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4623	GSR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/463	AMFR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4666	GTF3C3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4670	GTPBP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4718	H1-4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/4862	NCKAP1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5006	HMGCR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/5007	HMGCS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/50800	DUX4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/53647	CIROP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6009	IL2RB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6019	IL6R	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/602	APOA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6021	IL6ST	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6023	IL7	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6115	IREB2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6131	IRF9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6222	KCNA4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6238	KCND2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6262	KCNJ16	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6279	KCNK4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6291	KCNN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6299	KCNQ5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6305	KDELR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6392	KIF23	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/652	ARF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6551	LEF1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6598	LIG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6648	LMOD2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6714	LTBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6836	MAP1B	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6871	MAPK1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6884	MAPK8IP3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7201	MOV10L1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7370	MSL3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7413	MTAP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7506	MTX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7568	MYH10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/76	ABL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7608	MYO9A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7611	MYOD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7648	NBEA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7774	NFAT5	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7877	CNOT1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7878	CNOT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/7945	NPR3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/814	ATP2B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/837	ATP5F1D	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8572	PACSIN3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8599	PANX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8632	PBX1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8657	PCDH12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8717	PCDHGC4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8807	PDHA2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8978	PIK3CG	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/8999	PISD	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9107	PLXND1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9137	EXOSC9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9187	POLR2A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9216	POU3F3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9218	POU4F1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9381	PRKACB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9437	EIF2AK2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/947	BAIAP2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9546	PSMB9	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9583	PTBP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9772	RAB32	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9803	RAC3	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9886	KDM5A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9906	RBFOX2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9954	REL	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9955	RELA	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9956	RELB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/9964	DPF2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/10817	SGPL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/11354	STAG1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/14889	DNAJB11	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/16940	DGAT2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/18957	MAGI2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/2515	CTNND1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/26551	DZIP1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/30417	SH2B1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/hgnc/6027	CXCR2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100298265	CPAMD8	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100345295	RORB	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100423163	TARDBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100427716	APP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100472661	MIP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100520674	KIF21A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100626812	SORL1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/100739753	TARDBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101833915	Tp53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101926433	APP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/101926677	TARDBP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102135998	TP53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/102138674	PSEN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/103347222	SACK1H	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/119881609	VMP1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/281917	MOCS1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/282179	CHRNB1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397036	SOD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397276	TP53	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397323	COL2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/397663	APP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/403407	APP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/407142	COL2A1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/474985	SNX14	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/475010	HACE1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476336	VLDLR	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476548	ITPR1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/476649	FYCO1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/477604	SCN8A	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478239	SLC12A6	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/478798	SLC25A12	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479129	KCNIP4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479277	RAB24	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/479346	SELENOP	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/480409	SEL1L	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483706	SPTBN2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/483870	BIN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/484949	DNM2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488635	KCNJ10	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/488853	LGI2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/489479	ATP1B2	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/507654	ADAMTSL4	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/509837	SUOX	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/525795	AGRN	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/534319	NID1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/574011	HACD1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/780411	PSEN1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://identifiers.org/ncbigene/782170	TWIST1	http://purl.obolibrary.org/obo/SO_0000704	gene		
http://purl.obolibrary.org/obo/CL_0001067	group 1 innate lymphoid cell	http://purl.obolibrary.org/obo/CL_0001065	innate lymphoid cell		
http://purl.obolibrary.org/obo/CL_0001082	immature innate lymphoid cell	http://purl.obolibrary.org/obo/CL_0001065	innate lymphoid cell		
http://purl.obolibrary.org/obo/GO_0140101	catalytic activity, acting on a tRNA	http://purl.obolibrary.org/obo/GO_0140098	catalytic activity, acting on RNA		
http://purl.obolibrary.org/obo/MONDO_0015688	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2	http://purl.obolibrary.org/obo/MONDO_0015756	myeloid hemopathy		
http://purl.obolibrary.org/obo/MONDO_0975805	foveal hypoplasia 3	http://purl.obolibrary.org/obo/MONDO_0044203	foveal hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0010730	combined immunodeficiency, X-linked	http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0015703	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0044721	severe combined immunodeficiency due to LAT deficiency	http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0014168	severe combined immunodeficiency due to CORO1A deficiency	http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0015702	T-B+ severe combined immunodeficiency due to CD45 deficiency	http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency		
http://purl.obolibrary.org/obo/HP_0410378	Decreased naive CD4+ T cell proportion	http://purl.obolibrary.org/obo/HP_0410373	Abnormal naive CD4+ T cell proportion		
http://purl.obolibrary.org/obo/HP_0500184	Abnormal CSF amino acid concentration	http://purl.obolibrary.org/obo/HP_0500183	Abnormal CSF carboxylic acid concentration		
http://purl.obolibrary.org/obo/HP_0500185	Abnormal CSF branched chain amino acid concentration	http://purl.obolibrary.org/obo/HP_0500184	Abnormal CSF amino acid concentration		
http://purl.obolibrary.org/obo/HP_0500195	Abnormal CSF glutamine family amino acid concentration	http://purl.obolibrary.org/obo/HP_0500184	Abnormal CSF amino acid concentration		
http://purl.obolibrary.org/obo/HP_0500214	Abnormal CSF aromatic amino acid concentration	http://purl.obolibrary.org/obo/HP_0500184	Abnormal CSF amino acid concentration		
http://purl.obolibrary.org/obo/HP_0500186	Abnormal CSF valine concentration	http://purl.obolibrary.org/obo/HP_0500185	Abnormal CSF branched chain amino acid concentration		
http://purl.obolibrary.org/obo/HP_0500189	Abnormal CSF leucine concentration	http://purl.obolibrary.org/obo/HP_0500185	Abnormal CSF branched chain amino acid concentration		
http://purl.obolibrary.org/obo/HP_0500187	Increased CSF valine concentration	http://purl.obolibrary.org/obo/HP_0500186	Abnormal CSF valine concentration		
http://purl.obolibrary.org/obo/HP_0500188	Decreased CSF valine concentration	http://purl.obolibrary.org/obo/HP_0500186	Abnormal CSF valine concentration		
http://purl.obolibrary.org/obo/HP_0500190	Decreased CSF leucine concentration	http://purl.obolibrary.org/obo/HP_0500189	Abnormal CSF leucine concentration		
http://purl.obolibrary.org/obo/HP_0500191	Increased CSF leucine concentration	http://purl.obolibrary.org/obo/HP_0500189	Abnormal CSF leucine concentration		
http://purl.obolibrary.org/obo/HP_0500199	Abnormal CSF glutamate concentration	http://purl.obolibrary.org/obo/HP_0500195	Abnormal CSF glutamine family amino acid concentration		
http://purl.obolibrary.org/obo/HP_0500200	Increased CSF glutamate concentration	http://purl.obolibrary.org/obo/HP_0500199	Abnormal CSF glutamate concentration		
http://purl.obolibrary.org/obo/HP_0500201	Decreased CSF glutamate concentration	http://purl.obolibrary.org/obo/HP_0500199	Abnormal CSF glutamate concentration		
http://purl.obolibrary.org/obo/HP_0500215	Abnormal CSF phenylalanine concentration	http://purl.obolibrary.org/obo/HP_0500214	Abnormal CSF aromatic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0500219	Abnormal CSF tyrosine concentration	http://purl.obolibrary.org/obo/HP_0500214	Abnormal CSF aromatic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0500223	Increased CSF phenylalanine concentration	http://purl.obolibrary.org/obo/HP_0500215	Abnormal CSF phenylalanine concentration		
http://purl.obolibrary.org/obo/HP_0500224	Decreased CSF phenylalanine concentration	http://purl.obolibrary.org/obo/HP_0500215	Abnormal CSF phenylalanine concentration		
http://purl.obolibrary.org/obo/HP_0500220	Increased CSF tyrosine concentration	http://purl.obolibrary.org/obo/HP_0500219	Abnormal CSF tyrosine concentration		
http://purl.obolibrary.org/obo/HP_0500221	Decreased CSF tyrosine concentration	http://purl.obolibrary.org/obo/HP_0500219	Abnormal CSF tyrosine concentration		
http://purl.obolibrary.org/obo/MONDO_0020770	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	http://purl.obolibrary.org/obo/MONDO_0020771	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy		
http://purl.obolibrary.org/obo/HP_0012574	Mesangial hypercellularity	http://purl.obolibrary.org/obo/HP_0033231	Abnormal glomerular mesangial cellularity		
http://purl.obolibrary.org/obo/UBERON_0015144	autopod hair	http://purl.obolibrary.org/obo/UBERON_0037459	hair of limb		
http://purl.obolibrary.org/obo/UBERON_0039168	colic lymph node	http://purl.obolibrary.org/obo/UBERON_0037531	intestinal lymph node		
http://purl.obolibrary.org/obo/UBERON_0016402	mesocolic lymph node	http://purl.obolibrary.org/obo/UBERON_0039168	colic lymph node		
http://purl.obolibrary.org/obo/GO_0140098	catalytic activity, acting on RNA	http://purl.obolibrary.org/obo/GO_0140640	catalytic activity, acting on a nucleic acid		
http://purl.obolibrary.org/obo/MONDO_0030606	Bryant-Li-Bhoj neurodevelopmental syndrome 1	http://purl.obolibrary.org/obo/MONDO_0031200	Bryant-Li-Bhoj neurodevelopmental syndrome		
http://purl.obolibrary.org/obo/MONDO_0030607	Bryant-Li-Bhoj neurodevelopmental syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031200	Bryant-Li-Bhoj neurodevelopmental syndrome		
http://purl.obolibrary.org/obo/MONDO_0970994	immunodeficiency 120	http://purl.obolibrary.org/obo/MONDO_0800145	non-severe combined immunodeficiency due to polymerase delta deficiency		
http://purl.obolibrary.org/obo/MONDO_0032677	lissencephaly 9 with complex brainstem malformation	http://purl.obolibrary.org/obo/MONDO_0100472	lissencephaly spectrum disorder with complex brainstem malformation		
http://purl.obolibrary.org/obo/NCBITaxon_10298	Human alphaherpesvirus 1	http://purl.obolibrary.org/obo/NCBITaxon_3050292	Simplexvirus humanalpha1		
http://purl.obolibrary.org/obo/NCBITaxon_10310	Human alphaherpesvirus 2	http://purl.obolibrary.org/obo/NCBITaxon_3050293	Simplexvirus humanalpha2		
http://purl.obolibrary.org/obo/NCBITaxon_10335	Human alphaherpesvirus 3	http://purl.obolibrary.org/obo/NCBITaxon_3050294	Varicellovirus humanalpha3		
http://purl.obolibrary.org/obo/NCBITaxon_10359	Human betaherpesvirus 5	http://purl.obolibrary.org/obo/NCBITaxon_3050295	Cytomegalovirus humanbeta5		
http://purl.obolibrary.org/obo/NCBITaxon_10372	Human betaherpesvirus 7	http://purl.obolibrary.org/obo/NCBITaxon_3050298	Roseolovirus humanbeta7		
http://purl.obolibrary.org/obo/NCBITaxon_10376	human gammaherpesvirus 4	http://purl.obolibrary.org/obo/NCBITaxon_3050299	Lymphocryptovirus humangamma4		
http://purl.obolibrary.org/obo/CL_0000881	perivascular macrophage	http://purl.obolibrary.org/obo/CL_4042003	border associated macrophage		
http://purl.obolibrary.org/obo/CL_0008034	mural cell	http://purl.obolibrary.org/obo/CL_4033054	perivascular cell		
http://purl.obolibrary.org/obo/GO_0006541	L-glutamine metabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006560	L-proline metabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/GO_0006563	L-serine metabolic process	http://purl.obolibrary.org/obo/GO_0170033	L-amino acid metabolic process		
http://purl.obolibrary.org/obo/MONDO_0016145	neuromuscular disease caused by qualitative or quantitative defects of dysferlin	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016143	qualitative or quantitative defects of gamma-sarcoglycan	http://purl.obolibrary.org/obo/MONDO_0016140	sarcoglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0016144	qualitative or quantitative defects of delta-sarcoglycan	http://purl.obolibrary.org/obo/MONDO_0016140	sarcoglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0016151	neuromuscular disease caused by qualitative or quantitative defects of perlecan	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016153	neuromuscular disease caused by qualitative or quantitative defects of TRIM32	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016192	neuromuscular disease caused by qualitative or quantitative defects of telethonin	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016141	qualitative or quantitative defects of alpha-sarcoglycan	http://purl.obolibrary.org/obo/MONDO_0016140	sarcoglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0016142	qualitative or quantitative defects of beta-sarcoglycan	http://purl.obolibrary.org/obo/MONDO_0016140	sarcoglycanopathy		
http://purl.obolibrary.org/obo/MONDO_0979881	infection-induced acute-onset axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0021669	post-infectious disorder		
http://purl.obolibrary.org/obo/MONDO_0024566	febrile seizures, familial, 11	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0036193	parkinsonism with polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0021095	parkinsonian disorder		
http://purl.obolibrary.org/obo/MONDO_0978294	LSM7-related leukodystrophy and cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0100545	hereditary neurological disease		
http://purl.obolibrary.org/obo/MONDO_0009719	familial atrial myxoma	http://purl.obolibrary.org/obo/MONDO_0021209	heart neoplasm		
http://purl.obolibrary.org/obo/MONDO_0010753	cardiac valvular dysplasia, X-linked	http://purl.obolibrary.org/obo/MONDO_0020289	congenital tricuspid malformation		
http://purl.obolibrary.org/obo/MONDO_0859213	congenital heart defects, multiple types, 8, with or without heterotaxy	http://purl.obolibrary.org/obo/MONDO_0000119	congenital heart defects, multiple types		
http://purl.obolibrary.org/obo/MONDO_0859532	congenital heart defects, multiple types, 9	http://purl.obolibrary.org/obo/MONDO_0000119	congenital heart defects, multiple types		
http://purl.obolibrary.org/obo/MONDO_0013988	congenital heart defects, multiple types, 3	http://purl.obolibrary.org/obo/MONDO_0000119	congenital heart defects, multiple types		
http://purl.obolibrary.org/obo/MONDO_0020772	epilepsy, juvenile absence, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_1030001	epilepsy, juvenile absence, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0957303	palmoplantar keratoderma, epidermolytic, 2	http://purl.obolibrary.org/obo/MONDO_0968949	palmoplantar keratoderma, epidermolytic		
http://purl.obolibrary.org/obo/MONDO_0033572	intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	http://purl.obolibrary.org/obo/MONDO_0100559	ALG14-congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_0033619	myopathy, epilepsy, and progressive cerebral atrophy	http://purl.obolibrary.org/obo/MONDO_0100559	ALG14-congenital disorder of glycosylation		
http://purl.obolibrary.org/obo/MONDO_7770700	arachnomelia, cattle	http://purl.obolibrary.org/obo/MONDO_1012955	arachnomelia syndrome, non-human animal		
http://purl.obolibrary.org/obo/GO_0019915	lipid storage	http://purl.obolibrary.org/obo/GO_0170062	nutrient storage		
http://purl.obolibrary.org/obo/MONDO_0008041	myoclonic epilepsy, Hartung type	http://purl.obolibrary.org/obo/MONDO_0100577	myoclonic epilepsy		
http://purl.obolibrary.org/obo/MONDO_0015022	intellectual developmental disorder with dysmorphic facies and ptosis	http://purl.obolibrary.org/obo/MONDO_0100601	autosomal dominant syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0014210	intellectual disability-hypotonia-spasticity-sleep disorder syndrome	http://purl.obolibrary.org/obo/MONDO_0100598	autosomal recessive syndromic intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0030855	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	http://purl.obolibrary.org/obo/MONDO_0016470	Ehlers-Danlos/osteogenesis imperfecta syndrome		
http://purl.obolibrary.org/obo/HP_0005404	Increased total B cell count	http://purl.obolibrary.org/obo/HP_0025806	Abnormal total B cell count		
http://purl.obolibrary.org/obo/HP_0010976	Decreased total B cell count	http://purl.obolibrary.org/obo/HP_0025806	Abnormal total B cell count		
http://purl.obolibrary.org/obo/MONDO_0020766	neuropathy, congenital hypomyelinating, 3	http://purl.obolibrary.org/obo/MONDO_0033352	neuropathy, congenital hypomelinating		
http://purl.obolibrary.org/obo/HP_0012825	Mild	http://purl.obolibrary.org/obo/HP_0012824	Severity		
http://purl.obolibrary.org/obo/HP_0012826	Moderate	http://purl.obolibrary.org/obo/HP_0012824	Severity		
http://purl.obolibrary.org/obo/HP_0012828	Severe	http://purl.obolibrary.org/obo/HP_0012824	Severity		
http://purl.obolibrary.org/obo/HP_0012863	Abnormal male germ cell morphology	http://purl.obolibrary.org/obo/HP_0012862	Abnormal germ cell morphology		
http://purl.obolibrary.org/obo/HP_0012864	Abnormal sperm morphology	http://purl.obolibrary.org/obo/HP_0012863	Abnormal male germ cell morphology		
http://purl.obolibrary.org/obo/HP_0012876	Premature ejaculation	http://purl.obolibrary.org/obo/HP_0012875	Abnormal ejaculation		
http://purl.obolibrary.org/obo/HP_0012878	Retarded ejaculation	http://purl.obolibrary.org/obo/HP_0012875	Abnormal ejaculation		
http://purl.obolibrary.org/obo/HP_0012879	Anejaculation	http://purl.obolibrary.org/obo/HP_0012875	Abnormal ejaculation		
http://purl.obolibrary.org/obo/HP_0030159	Cervical polyp	http://purl.obolibrary.org/obo/HP_0012888	Abnormal uterine cervix morphology		
http://purl.obolibrary.org/obo/HP_0100961	Enlarged hippocampus	http://purl.obolibrary.org/obo/HP_0025100	Abnormal hippocampus morphology		
http://purl.obolibrary.org/obo/HP_0011472	Abnormal small intestinal villus morphology	http://purl.obolibrary.org/obo/HP_0025129	Abnormal small intestinal mucosa morphology		
http://purl.obolibrary.org/obo/HP_0012531	Pain	http://purl.obolibrary.org/obo/HP_0025142	Constitutional symptom		
http://purl.obolibrary.org/obo/HP_0100247	Recurrent singultus	http://purl.obolibrary.org/obo/HP_0025142	Constitutional symptom		
http://purl.obolibrary.org/obo/HP_0000140	Abnormality of the menstrual cycle	http://purl.obolibrary.org/obo/HP_0030012	Abnormal female reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0030014	Female sexual dysfunction	http://purl.obolibrary.org/obo/HP_0030012	Abnormal female reproductive system physiology		
http://purl.obolibrary.org/obo/HP_0030243	Hepatic vein thrombosis	http://purl.obolibrary.org/obo/HP_0030247	Splanchnic vein thrombosis		
http://purl.obolibrary.org/obo/HP_0030348	Increased circulating androgen concentration	http://purl.obolibrary.org/obo/HP_0030347	Abnormal circulating androgen level		
http://purl.obolibrary.org/obo/HP_0030349	Decreased circulating androgen concentration	http://purl.obolibrary.org/obo/HP_0030347	Abnormal circulating androgen level		
http://purl.obolibrary.org/obo/HP_0030372	Decreased naive B cell proportion	http://purl.obolibrary.org/obo/HP_0030370	Abnormal naive B cell proportion		
http://purl.obolibrary.org/obo/HP_0030374	Decreased proportion of memory B cells	http://purl.obolibrary.org/obo/HP_0030373	Abnormal memory B cell proportion		
http://purl.obolibrary.org/obo/HP_0030383	Abnormal proportion of marginal zone B cells	http://purl.obolibrary.org/obo/HP_0030373	Abnormal memory B cell proportion		
http://purl.obolibrary.org/obo/HP_0030386	Abnormal class-switched memory B cell proportion	http://purl.obolibrary.org/obo/HP_0030373	Abnormal memory B cell proportion		
http://purl.obolibrary.org/obo/HP_0032124	Abnormal unswitched memory B cell proportion	http://purl.obolibrary.org/obo/HP_0030373	Abnormal memory B cell proportion		
http://purl.obolibrary.org/obo/HP_0030388	Decreased class-switched memory B cell proportion	http://purl.obolibrary.org/obo/HP_0030386	Abnormal class-switched memory B cell proportion		
http://purl.obolibrary.org/obo/HP_0030378	Decreased immature B cell proportion	http://purl.obolibrary.org/obo/HP_0030376	Abnormal immature B cell proportion		
http://purl.obolibrary.org/obo/HP_0030380	Decreased transitional B cell proportion	http://purl.obolibrary.org/obo/HP_0030379	Abnormal transitional B cell proportion		
http://purl.obolibrary.org/obo/HP_0030384	Decreased proportion of marginal zone B cells	http://purl.obolibrary.org/obo/HP_0030383	Abnormal proportion of marginal zone B cells		
http://purl.obolibrary.org/obo/HP_0030852	High pulse pressure	http://purl.obolibrary.org/obo/HP_0030850	Abnormal pulse pressure		
http://purl.obolibrary.org/obo/HP_0030897	Decreased intestinal transit time	http://purl.obolibrary.org/obo/HP_0030896	Abnormal gastrointestinal transit time		
http://purl.obolibrary.org/obo/HP_0410204	Increased intestinal transit time	http://purl.obolibrary.org/obo/HP_0030896	Abnormal gastrointestinal transit time		
http://purl.obolibrary.org/obo/HP_0100770	Hyperperistalsis	http://purl.obolibrary.org/obo/HP_0030914	Abnormal peristalsis		
http://purl.obolibrary.org/obo/HP_0100771	Hypoperistalsis	http://purl.obolibrary.org/obo/HP_0030914	Abnormal peristalsis		
http://purl.obolibrary.org/obo/HP_0000859	Increased circulating aldosterone concentration	http://purl.obolibrary.org/obo/HP_0040085	Abnormal circulating aldosterone concentration		
http://purl.obolibrary.org/obo/HP_0004319	Decreased circulating aldosterone concentration	http://purl.obolibrary.org/obo/HP_0040085	Abnormal circulating aldosterone concentration		
http://purl.obolibrary.org/obo/HP_0040218	Reduced total natural killer cell count	http://purl.obolibrary.org/obo/HP_0040089	Abnormal total natural killer cell count		
http://purl.obolibrary.org/obo/HP_0040219	Absent natural killer cells	http://purl.obolibrary.org/obo/HP_0040089	Abnormal total natural killer cell count		
http://purl.obolibrary.org/obo/HP_0040117	Atresia of the Eustachian tube	http://purl.obolibrary.org/obo/HP_0040115	Abnormal Eustachian tube morphology		
http://purl.obolibrary.org/obo/HP_0012236	Elevated sweat chloride	http://purl.obolibrary.org/obo/HP_0040127	Abnormal sweat homeostasis		
http://purl.obolibrary.org/obo/HP_0012465	Elevated hepatic iron concentration	http://purl.obolibrary.org/obo/HP_0040134	Abnormal hepatic iron concentration		
http://purl.obolibrary.org/obo/HP_0040174	Abnormality of extrinsic muscle of tongue	http://purl.obolibrary.org/obo/HP_0040173	Abnormality of the tongue muscle		
http://purl.obolibrary.org/obo/HP_0040254	Decreased size of the clitoris	http://purl.obolibrary.org/obo/HP_0040252	Abnormal size of the clitoris		
http://purl.obolibrary.org/obo/HP_0040259	Aplastic nasopharyngeal adenoids	http://purl.obolibrary.org/obo/HP_0040256	Aplastic/Hypoplastic nasopharyngeal adenoids		
http://purl.obolibrary.org/obo/HP_0040260	Decreased size of nasopharyngeal adenoids	http://purl.obolibrary.org/obo/HP_0040257	Abnormal size of nasopharyngeal adenoids		
http://purl.obolibrary.org/obo/HP_0045054	Brachial plexus neuropathy	http://purl.obolibrary.org/obo/HP_0045052	Abnormality of the brachial nerve plexus		
http://purl.obolibrary.org/obo/HP_0410010	Abnormality of somatic nerve plexus	http://purl.obolibrary.org/obo/HP_0410009	Abnormality of the somatic nervous system		
http://purl.obolibrary.org/obo/HP_3000035	Abnormality of cervical plexus	http://purl.obolibrary.org/obo/HP_0410010	Abnormality of somatic nerve plexus		
http://purl.obolibrary.org/obo/HP_0410015	Abnormal peripheral nervous system ganglion morphology	http://purl.obolibrary.org/obo/HP_0410014	Abnormal ganglion morphology		
http://purl.obolibrary.org/obo/HP_0410016	Abnormal cranial ganglion morphology	http://purl.obolibrary.org/obo/HP_0410014	Abnormal ganglion morphology		
http://purl.obolibrary.org/obo/HP_0011218	Abnormal shape of the frontal region	http://purl.obolibrary.org/obo/HP_0430000	Abnormal frontal bone morphology		
http://purl.obolibrary.org/obo/HP_0040257	Abnormal size of nasopharyngeal adenoids	http://purl.obolibrary.org/obo/HP_3000033	Abnormal nasopharyngeal adenoid morphology		
http://purl.obolibrary.org/obo/HP_0500034	Nasolacrimal sac obstruction	http://purl.obolibrary.org/obo/HP_3000066	Abnormal lacrimal sac morphology		
http://purl.obolibrary.org/obo/HP_0012241	Levator palpebrae superioris atrophy	http://purl.obolibrary.org/obo/HP_3000072	Abnormal levator palpebrae superioris morphology		
http://purl.obolibrary.org/obo/NBO_0000444	eye movement	http://purl.obolibrary.org/obo/NBO_0000001	body part movement		
http://purl.obolibrary.org/obo/NBO_0000388	involuntary movement behavior	http://purl.obolibrary.org/obo/NBO_0000001	body part movement		
http://purl.obolibrary.org/obo/NBO_0000015	aggressive behavior	http://purl.obolibrary.org/obo/NBO_0000003	emotional behavior		
http://purl.obolibrary.org/obo/NBO_0000129	agitation behavior	http://purl.obolibrary.org/obo/NBO_0000003	emotional behavior		
http://purl.obolibrary.org/obo/NBO_0000018	fear/anxiety related behavior	http://purl.obolibrary.org/obo/NBO_0000469	stress related behavior		
http://purl.obolibrary.org/obo/NBO_0000170	memory behavior	http://purl.obolibrary.org/obo/NBO_0000006	learning and/or memory behavior		
http://purl.obolibrary.org/obo/NBO_0000747	jaw movement	http://purl.obolibrary.org/obo/NBO_0000007	mouth movement		
http://purl.obolibrary.org/obo/NBO_0000034	sexual activity	http://purl.obolibrary.org/obo/NBO_0000010	reproductive behavior		
http://purl.obolibrary.org/obo/NBO_0000092	anxiety-related behavior	http://purl.obolibrary.org/obo/NBO_0000018	fear/anxiety related behavior		
http://purl.obolibrary.org/obo/NBO_0002468	regulation of water consumption	http://purl.obolibrary.org/obo/NBO_0000064	regulation of drinking behavior		
http://purl.obolibrary.org/obo/NBO_0000130	liquid consumption	http://purl.obolibrary.org/obo/NBO_0000079	feeding behavior		
http://purl.obolibrary.org/obo/NBO_0000134	food consumption	http://purl.obolibrary.org/obo/NBO_0000079	feeding behavior		
http://purl.obolibrary.org/obo/NBO_0000128	irritability behavior	http://purl.obolibrary.org/obo/NBO_0000121	agonistic behavior		
http://purl.obolibrary.org/obo/NBO_0000132	water consumption	http://purl.obolibrary.org/obo/NBO_0000130	liquid consumption		
http://purl.obolibrary.org/obo/NBO_0000306	memory storage behavior	http://purl.obolibrary.org/obo/NBO_0000170	memory behavior		
http://purl.obolibrary.org/obo/NBO_0000304	memory loss behavior	http://purl.obolibrary.org/obo/NBO_0000170	memory behavior		
http://purl.obolibrary.org/obo/NBO_0000185	declarative memory	http://purl.obolibrary.org/obo/NBO_0000181	long-term memory		
http://purl.obolibrary.org/obo/NBO_0000591	motor coordination phenotype	http://purl.obolibrary.org/obo/NBO_0000229	vestibular behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000270	feeding behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000243	behavioral phenotype		
http://purl.obolibrary.org/obo/NBO_0000473	rhythmic behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000243	behavioral phenotype		
http://purl.obolibrary.org/obo/NBO_0000564	social behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000243	behavioral phenotype		
http://purl.obolibrary.org/obo/NBO_0000568	kinesthetic behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000243	behavioral phenotype		
http://purl.obolibrary.org/obo/NBO_0000601	emotional behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000243	behavioral phenotype		
http://purl.obolibrary.org/obo/NBO_0000268	dementia	http://purl.obolibrary.org/obo/NBO_0000266	cognitive behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000606	forgetfulness	http://purl.obolibrary.org/obo/NBO_0000266	cognitive behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000655	sensation behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000266	cognitive behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000540	drinking behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000270	feeding behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000181	long-term memory	http://purl.obolibrary.org/obo/NBO_0000306	memory storage behavior		
http://purl.obolibrary.org/obo/NBO_0000455	attention behavior	http://purl.obolibrary.org/obo/NBO_0000308	sensation behavior		
http://purl.obolibrary.org/obo/NBO_0000751	perception behavior by means	http://purl.obolibrary.org/obo/NBO_0000308	sensation behavior		
http://purl.obolibrary.org/obo/NBO_0000355	posture	http://purl.obolibrary.org/obo/NBO_0000317	vestibular behavior		
http://purl.obolibrary.org/obo/NBO_0000317	vestibular behavior	http://purl.obolibrary.org/obo/NBO_0000327	somatic sensation related behavior		
http://purl.obolibrary.org/obo/NBO_0000347	gross motor coordination	http://purl.obolibrary.org/obo/NBO_0000339	motor coordination		
http://purl.obolibrary.org/obo/NBO_0000357	limb posture	http://purl.obolibrary.org/obo/NBO_0000355	posture		
http://purl.obolibrary.org/obo/NBO_0000356	body posture	http://purl.obolibrary.org/obo/NBO_0000355	posture		
http://purl.obolibrary.org/obo/NBO_0000389	reflexive behavior	http://purl.obolibrary.org/obo/NBO_0000388	involuntary movement behavior		
http://purl.obolibrary.org/obo/NBO_0000419	sleeping behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000473	rhythmic behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000542	polydipsia	http://purl.obolibrary.org/obo/NBO_0000540	drinking behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000643	involuntary movement behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000568	kinesthetic behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000644	voluntary movement behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000568	kinesthetic behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000244	pathological anxiety	http://purl.obolibrary.org/obo/NBO_0000601	emotional behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000006	learning and/or memory behavior	http://purl.obolibrary.org/obo/NBO_0000607	cognitive behavior		
http://purl.obolibrary.org/obo/NBO_0000308	sensation behavior	http://purl.obolibrary.org/obo/NBO_0000607	cognitive behavior		
http://purl.obolibrary.org/obo/NBO_0000589	tremor	http://purl.obolibrary.org/obo/NBO_0000643	involuntary movement behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000030	hyperactivity	http://purl.obolibrary.org/obo/NBO_0000644	voluntary movement behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000009	locomotory behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000644	voluntary movement behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000656	somatic sensation related behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000655	sensation behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000229	vestibular behavior phenotype	http://purl.obolibrary.org/obo/NBO_0000656	somatic sensation related behavior phenotype		
http://purl.obolibrary.org/obo/NBO_0000327	somatic sensation related behavior	http://purl.obolibrary.org/obo/NBO_0000751	perception behavior by means		
http://purl.obolibrary.org/obo/NBO_0002603	regulation of sexual activity	http://purl.obolibrary.org/obo/NBO_0001786	regulation of behavior		
http://purl.obolibrary.org/obo/NBO_0002169	regulation of consumption behavior	http://purl.obolibrary.org/obo/NBO_0001786	regulation of behavior		
http://purl.obolibrary.org/obo/NBO_0002436	regulation of feeding behavior	http://purl.obolibrary.org/obo/NBO_0002169	regulation of consumption behavior		
http://purl.obolibrary.org/obo/NBO_0000063	regulation of eating behavior	http://purl.obolibrary.org/obo/NBO_0002436	regulation of feeding behavior		
http://purl.obolibrary.org/obo/NBO_0000064	regulation of drinking behavior	http://purl.obolibrary.org/obo/NBO_0002436	regulation of feeding behavior		
http://purl.obolibrary.org/obo/NBO_0000433	withdrawal reflex	http://purl.obolibrary.org/obo/NBO_0000404	stretch reflex		
http://purl.obolibrary.org/obo/NCBITaxon_9103	Meleagris gallopavo	http://purl.obolibrary.org/obo/NCBITaxon_9102	Meleagris		
http://purl.obolibrary.org/obo/NCBITaxon_9215	Phoenicopteridae	http://purl.obolibrary.org/obo/NCBITaxon_9214	Phoenicopteriformes		
http://purl.obolibrary.org/obo/MONDO_0800330	myoclonic epilepsy, juvenile, 2	http://purl.obolibrary.org/obo/MONDO_0009696	juvenile myoclonic epilepsy		
http://purl.obolibrary.org/obo/MONDO_0045040	locational disease characteristic	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		
http://purl.obolibrary.org/obo/MONDO_0021135	rare or common	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		
http://purl.obolibrary.org/obo/MONDO_0021139	congenital or acquired	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		
http://purl.obolibrary.org/obo/MONDO_0021149	hereditary vs non-hereditary etiology	http://purl.obolibrary.org/obo/MONDO_0021125	disease characteristic		
http://purl.obolibrary.org/obo/MONDO_0021137	not rare	http://purl.obolibrary.org/obo/MONDO_0021135	rare or common		
http://purl.obolibrary.org/obo/MONDO_0021151	non-genetic	http://purl.obolibrary.org/obo/MONDO_0021149	hereditary vs non-hereditary etiology		
http://purl.obolibrary.org/obo/HP_0410400	Absent sebaceous glands	http://purl.obolibrary.org/obo/HP_0032226	Abnormal sebaceous gland morphology		
http://purl.obolibrary.org/obo/HP_0010987	Abnormal cellular immune system morphology	http://purl.obolibrary.org/obo/HP_0032251	Abnormal immune system morphology		
http://purl.obolibrary.org/obo/UBERON_0037447	wall of male urethra	http://purl.obolibrary.org/obo/UBERON_0036521	wall of urethra		
http://purl.obolibrary.org/obo/UBERON_0037455	wall of female urethra	http://purl.obolibrary.org/obo/UBERON_0036521	wall of urethra		
http://purl.obolibrary.org/obo/HP_0032351	Phenylalaninuria	http://purl.obolibrary.org/obo/HP_0033090	Increased aromatic amino acid level in urine		
http://purl.obolibrary.org/obo/HP_0002156	Homocystinuria	http://purl.obolibrary.org/obo/HP_0033095	Increased sulfur amino acid level in urine		
http://purl.obolibrary.org/obo/HP_0004339	Abnormal circulating sulfur amino acid concentration	http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0004338	Abnormal circulating aromatic amino acid concentration	http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010892	Abnormal circulating branched chain amino acid concentration	http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010894	Abnormal circulating serine family amino acid concentration	http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010899	Abnormal circulating aspartate family amino acid concentration	http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010902	Abnormal circulating glutamine family amino acid concentration	http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0010904	Abnormal circulating histidine concentration	http://purl.obolibrary.org/obo/HP_0033107	Abnormal circulating proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/HP_0003011	Abnormality of the musculature	http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system		
http://purl.obolibrary.org/obo/HP_0003549	Abnormality of connective tissue	http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system		
http://purl.obolibrary.org/obo/HP_0011843	Abnormal musculoskeletal physiology	http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system		
http://purl.obolibrary.org/obo/HP_0000924	Abnormality of the skeletal system	http://purl.obolibrary.org/obo/HP_0033127	Abnormality of the musculoskeletal system		
http://purl.obolibrary.org/obo/HP_0009555	Hypoplasia of the pharynx	http://purl.obolibrary.org/obo/HP_0033151	Abnormal pharynx morphology		
http://purl.obolibrary.org/obo/HP_3000053	Abnormal hypopharynx morphology	http://purl.obolibrary.org/obo/HP_0033151	Abnormal pharynx morphology		
http://purl.obolibrary.org/obo/MONDO_0012947	intellectual disability, autosomal dominant 4	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0957228	intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0023657	intellectual developmental disorder, autosomal dominant 65	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0029465	intellectual developmental disorder, autosomal dominant 69	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0030964	intellectual developmental disorder, autosomal dominant 67	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0030969	intellectual developmental disorder, autosomal dominant 68	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0030891	intellectual developmental disorder, autosomal dominant 66	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0030934	intellectual developmental disorder, autosomal dominant 64	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0979575	intellectual developmental disorder, autosomal dominant 76	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0975838	intellectual developmental disorder, autosomal dominant 75	http://purl.obolibrary.org/obo/MONDO_0100172	intellectual disability, autosomal dominant		
http://purl.obolibrary.org/obo/MONDO_0958203	intellectual developmental disorder, autosomal dominant 74	http://purl.obolibrary.org/obo/MONDO_0800457	HNRNPC-related neurodevelopmental disorder		
http://purl.obolibrary.org/obo/MONDO_0026404	X inactivation, familial skewed, 1	http://purl.obolibrary.org/obo/MONDO_0100209	X inactivation, familial skewed		
http://purl.obolibrary.org/obo/MONDO_0026426	X inactivation, familial skewed, 2	http://purl.obolibrary.org/obo/MONDO_0100209	X inactivation, familial skewed		
http://purl.obolibrary.org/obo/MONDO_0100219	growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100210	growth hormone insensitivity syndrome with immune dysregulation		
http://purl.obolibrary.org/obo/MONDO_0100221	IFAP syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100212	IFAP syndrome		
http://purl.obolibrary.org/obo/MONDO_0100220	Rajab interstitial lung disease with brain calcifications 2	http://purl.obolibrary.org/obo/MONDO_0100214	Rajab interstitial lung disease with brain calcifications		
http://purl.obolibrary.org/obo/MONDO_0980755	mitochondrial complex IV deficiency, nuclear type 24	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		
http://purl.obolibrary.org/obo/MONDO_0980970	mitochondrial complex 4 deficiency, nuclear type 25	http://purl.obolibrary.org/obo/MONDO_0033885	mitochondrial complex IV deficiency, nuclear-type		
http://purl.obolibrary.org/obo/MONDO_0030902	mitochondrial complex I deficiency, nuclear type 36	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0030997	mitochondrial complex I deficiency, nuclear type 37	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0026720	mitochondrial complex I deficiency, nuclear type 12	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032606	mitochondrial complex I deficiency, nuclear type 2	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032608	mitochondrial complex I deficiency, nuclear type 3	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032609	mitochondrial complex I deficiency, nuclear type 4	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032610	mitochondrial complex I deficiency, nuclear type 5	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032611	mitochondrial complex I deficiency, nuclear type 6	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032612	mitochondrial complex I deficiency, nuclear type 7	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032613	mitochondrial complex I deficiency, nuclear type 8	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032615	mitochondrial complex I deficiency, nuclear type 9	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032616	mitochondrial complex I deficiency, nuclear type 10	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032617	mitochondrial complex I deficiency, nuclear type 11	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032618	mitochondrial complex I deficiency, nuclear type 13	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032619	mitochondrial complex I deficiency, nuclear type 14	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032620	mitochondrial complex I deficiency, nuclear type 15	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032621	mitochondrial complex I deficiency, nuclear type 16	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032622	mitochondrial complex I deficiency, nuclear type 17	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032623	mitochondrial complex I deficiency, nuclear type 18	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032624	mitochondrial complex I deficiency, nuclear type 19	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032625	mitochondrial complex I deficiency, nuclear type 21	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032626	mitochondrial complex I deficiency, nuclear type 22	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032627	mitochondrial complex I deficiency, nuclear type 23	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032628	mitochondrial complex I deficiency, nuclear type 24	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032629	mitochondrial complex I deficiency, nuclear type 25	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032630	mitochondrial complex I deficiency, nuclear type 26	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032631	mitochondrial complex I deficiency, nuclear type 27	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032632	mitochondrial complex I deficiency, nuclear type 28	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032633	mitochondrial complex I deficiency, nuclear type 29	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032634	mitochondrial complex I deficiency, nuclear type 31	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032635	mitochondrial complex I deficiency, nuclear type 32	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032636	mitochondrial complex I deficiency, nuclear type 33	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0032910	mitochondrial complex I deficiency, nuclear type 34	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0859320	mitochondrial complex I deficiency, nuclear type 39	http://purl.obolibrary.org/obo/MONDO_0100223	mitochondrial complex I deficiency, nuclear type		
http://purl.obolibrary.org/obo/HP_0002475	Myelomeningocele	http://purl.obolibrary.org/obo/HP_0034237	Open neural tube defect		
http://purl.obolibrary.org/obo/MONDO_0049223	osteogenesis imperfecta, type 19	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		
http://purl.obolibrary.org/obo/MONDO_0013889	short stature-optic atrophy-Pelger-Huët anomaly syndrome	http://purl.obolibrary.org/obo/MONDO_0800064	osteogenesis imperfecta and a reduction of bone mineral density.		
http://purl.obolibrary.org/obo/MONDO_0032684	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0800063	primordial dwarfism and slender bone disorder		
http://purl.obolibrary.org/obo/MONDO_0800291	crossed polydactyly, type I	http://purl.obolibrary.org/obo/MONDO_0800066	polydactyly-syndactyly-triphalangism		
http://purl.obolibrary.org/obo/MONDO_0024770	autoinflammatory syndrome, familial, X-linked, Behcet-like 2	http://purl.obolibrary.org/obo/MONDO_0031384	autoinflammatory syndrome, familial, Behcet-like		
http://purl.obolibrary.org/obo/MONDO_0800045	autoinflammatory syndrome, familial, Behcet-like 1	http://purl.obolibrary.org/obo/MONDO_0031384	autoinflammatory syndrome, familial, Behcet-like		
http://purl.obolibrary.org/obo/MONDO_0030781	restrictive dermopathy 2	http://purl.obolibrary.org/obo/MONDO_0031213	restrictive dermopathy		
http://purl.obolibrary.org/obo/MONDO_0030756	Stuve-Wiedemann syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031280	Stuve-Wiedemann syndrome		
http://purl.obolibrary.org/obo/MONDO_0030770	congenital disorder of deglycosylation 2	http://purl.obolibrary.org/obo/MONDO_0031376	congenital disorder of deglycosylation		
http://purl.obolibrary.org/obo/MONDO_0018847	omphalomesenteric cyst	http://purl.obolibrary.org/obo/MONDO_0100298	abdominal wall malformation		
http://purl.obolibrary.org/obo/MONDO_0859564	epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0859390	epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features		
http://purl.obolibrary.org/obo/NCBITaxon_11084	Tick-borne encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3052465	Orthoflavivirus encephalitidis		
http://purl.obolibrary.org/obo/NCBITaxon_11080	St. Louis encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_3052468	Orthoflavivirus louisense		
http://purl.obolibrary.org/obo/NCBITaxon_11234	Measles morbillivirus	http://purl.obolibrary.org/obo/NCBITaxon_3052345	Morbillivirus hominis		
http://purl.obolibrary.org/obo/NCBITaxon_11588	Rift Valley fever virus	http://purl.obolibrary.org/obo/NCBITaxon_3052676	Phlebovirus riftense		
http://purl.obolibrary.org/obo/NCBITaxon_379582	Ailuridae	http://purl.obolibrary.org/obo/NCBITaxon_3072906	Musteloidea		
http://purl.obolibrary.org/obo/NCBITaxon_12637	Dengue virus	http://purl.obolibrary.org/obo/NCBITaxon_3052464	Orthoflavivirus denguei		
http://purl.obolibrary.org/obo/NCBITaxon_3052460	Orthoebolavirus sudanense	http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052462	Orthoebolavirus zairense	http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052458	Orthoebolavirus bundibugyoense	http://purl.obolibrary.org/obo/NCBITaxon_3044781	Orthoebolavirus		
http://purl.obolibrary.org/obo/CL_0009029	mesothelial cell of appendix	http://purl.obolibrary.org/obo/CL_0008041	mesothelial cell of intestine		
http://purl.obolibrary.org/obo/CL_0009024	mesothelial cell of small intestine	http://purl.obolibrary.org/obo/CL_0008041	mesothelial cell of intestine		
http://purl.obolibrary.org/obo/CL_0009025	mesothelial cell of colon	http://purl.obolibrary.org/obo/CL_0008041	mesothelial cell of intestine		
http://purl.obolibrary.org/obo/GO_0005589	collagen type VI trimer	http://purl.obolibrary.org/obo/GO_0140392	extracellular protein-containing complex		
http://purl.obolibrary.org/obo/ENVO_00000017	saline hydrographic feature	http://purl.obolibrary.org/obo/ENVO_00000012	hydrographic feature		
http://purl.obolibrary.org/obo/ENVO_00000073	building	http://purl.obolibrary.org/obo/ENVO_00000070	human construction		
http://purl.obolibrary.org/obo/ENVO_00000128	dry valley	http://purl.obolibrary.org/obo/ENVO_00000100	valley		
http://purl.obolibrary.org/obo/ENVO_00000248	glacial valley	http://purl.obolibrary.org/obo/ENVO_00000100	valley		
http://purl.obolibrary.org/obo/ENVO_00000111	forested area	http://purl.obolibrary.org/obo/ENVO_00000109	woodland area		
http://purl.obolibrary.org/obo/ENVO_01000242	desert scrubland	http://purl.obolibrary.org/obo/ENVO_00000300	scrubland area		
http://purl.obolibrary.org/obo/ENVO_01000248	dense settlement biome	http://purl.obolibrary.org/obo/ENVO_01000658	dense settlement		
http://purl.obolibrary.org/obo/ENVO_01000023	marine pelagic biome	http://purl.obolibrary.org/obo/ENVO_00000447	marine biome		
http://purl.obolibrary.org/obo/ENVO_01000048	ocean biome	http://purl.obolibrary.org/obo/ENVO_00000447	marine biome		
http://purl.obolibrary.org/obo/ENVO_00000016	sea	http://purl.obolibrary.org/obo/ENVO_01001319	saline water body		
http://purl.obolibrary.org/obo/ENVO_03000033	marine sediment	http://purl.obolibrary.org/obo/ENVO_00002007	sediment		
http://purl.obolibrary.org/obo/ENVO_02000109	dust from plant parts	http://purl.obolibrary.org/obo/ENVO_00002008	dust		
http://purl.obolibrary.org/obo/ENVO_01000271	clastic sedimentary rock	http://purl.obolibrary.org/obo/ENVO_00002016	sedimentary rock		
http://purl.obolibrary.org/obo/ENVO_02000091	coal	http://purl.obolibrary.org/obo/ENVO_00002016	sedimentary rock		
http://purl.obolibrary.org/obo/ENVO_01000274	slate	http://purl.obolibrary.org/obo/ENVO_00002017	metamorphic rock		
http://purl.obolibrary.org/obo/ENVO_03600001	chemically contaminated sediment	http://purl.obolibrary.org/obo/ENVO_00002114	chemically enriched sediment		
http://purl.obolibrary.org/obo/ENVO_01001089	aerosolised solids	http://purl.obolibrary.org/obo/ENVO_00010505	aerosol		
http://purl.obolibrary.org/obo/ENVO_01000033	oceanic pelagic zone biome	http://purl.obolibrary.org/obo/ENVO_01000023	marine pelagic biome		
http://purl.obolibrary.org/obo/ENVO_01000032	neritic pelagic zone biome	http://purl.obolibrary.org/obo/ENVO_01000023	marine pelagic biome		
http://purl.obolibrary.org/obo/ENVO_01000041	neritic sea surface microlayer biome	http://purl.obolibrary.org/obo/ENVO_01000032	neritic pelagic zone biome		
http://purl.obolibrary.org/obo/ENVO_00002982	clay	http://purl.obolibrary.org/obo/ENVO_01000060	particulate environmental material		
http://purl.obolibrary.org/obo/ENVO_01000016	silt	http://purl.obolibrary.org/obo/ENVO_01000060	particulate environmental material		
http://purl.obolibrary.org/obo/ENVO_01000017	sand	http://purl.obolibrary.org/obo/ENVO_01000060	particulate environmental material		
http://purl.obolibrary.org/obo/ENVO_00002007	sediment	http://purl.obolibrary.org/obo/ENVO_01000060	particulate environmental material		
http://purl.obolibrary.org/obo/ENVO_01000343	altitudinal condition	http://purl.obolibrary.org/obo/ENVO_01000203	environmental condition		
http://purl.obolibrary.org/obo/ENVO_01000340	alpine	http://purl.obolibrary.org/obo/ENVO_01000343	altitudinal condition		
http://purl.obolibrary.org/obo/ENVO_01000342	montane	http://purl.obolibrary.org/obo/ENVO_01000343	altitudinal condition		
http://purl.obolibrary.org/obo/ENVO_01001242	canopy	http://purl.obolibrary.org/obo/ENVO_01000355	vegetation layer		
http://purl.obolibrary.org/obo/ENVO_01000638	planetary crust	http://purl.obolibrary.org/obo/ENVO_01000639	planetary structural layer		
http://purl.obolibrary.org/obo/ENVO_01000640	planetary mantle	http://purl.obolibrary.org/obo/ENVO_01000639	planetary structural layer		
http://purl.obolibrary.org/obo/ENVO_00000063	water body	http://purl.obolibrary.org/obo/ENVO_01000685	water mass		
http://purl.obolibrary.org/obo/ENVO_01001429	land conversion process	http://purl.obolibrary.org/obo/ENVO_01000743	land consumption process		
http://purl.obolibrary.org/obo/ENVO_01000958	terrestrial planet	http://purl.obolibrary.org/obo/ENVO_01000800	planet		
http://purl.obolibrary.org/obo/ENVO_01001136	ocean planet	http://purl.obolibrary.org/obo/ENVO_01000800	planet		
http://purl.obolibrary.org/obo/ENVO_01001137	ice planet	http://purl.obolibrary.org/obo/ENVO_01000800	planet		
http://purl.obolibrary.org/obo/ENVO_01001143	lava planet	http://purl.obolibrary.org/obo/ENVO_01000800	planet		
http://purl.obolibrary.org/obo/ENVO_01000799	astronomical body	http://purl.obolibrary.org/obo/ENVO_01000804	astronomical object		
http://purl.obolibrary.org/obo/ENVO_01001150	protoplanetary disk	http://purl.obolibrary.org/obo/ENVO_01000804	astronomical object		
http://purl.obolibrary.org/obo/ENVO_03520007	snow crystal	http://purl.obolibrary.org/obo/ENVO_01000846	water ice crystal		
http://purl.obolibrary.org/obo/ENVO_02000106	asbestos dust	http://purl.obolibrary.org/obo/ENVO_02000101	fibrous dust		
http://purl.obolibrary.org/obo/ENVO_02000108	cotton dust	http://purl.obolibrary.org/obo/ENVO_02000109	dust from plant parts		
http://purl.obolibrary.org/obo/ENVO_01001359	atmospheric aerosolised particle formation event	http://purl.obolibrary.org/obo/ENVO_01001372	aerosolised particle formation event		
http://purl.obolibrary.org/obo/ENVO_02500001	desertification	http://purl.obolibrary.org/obo/ENVO_02500005	land degradation		
http://purl.obolibrary.org/obo/ENVO_08000002	mouth environment	http://purl.obolibrary.org/obo/ENVO_2100000	anatomical entity environment		
http://purl.obolibrary.org/obo/ENVO_2100004	integumental system environment	http://purl.obolibrary.org/obo/ENVO_2100000	anatomical entity environment		
http://purl.obolibrary.org/obo/ENVO_08000001	axilla skin environment	http://purl.obolibrary.org/obo/ENVO_2100003	skin environment		
http://purl.obolibrary.org/obo/ENVO_2100005	face skin environment	http://purl.obolibrary.org/obo/ENVO_2100003	skin environment		
http://purl.obolibrary.org/obo/FOODON_00001871	food material analog	http://purl.obolibrary.org/obo/FOODON_00001002	food product		
http://purl.obolibrary.org/obo/FOODON_03460177	plant seed or nut food product	http://purl.obolibrary.org/obo/FOODON_00001015	plant food product		
http://purl.obolibrary.org/obo/FOODON_00001262	botanical fruit food product	http://purl.obolibrary.org/obo/FOODON_00001015	plant food product		
http://purl.obolibrary.org/obo/FOODON_00001293	shellfish food product	http://purl.obolibrary.org/obo/FOODON_00001176	invertebrate food product		
http://purl.obolibrary.org/obo/FOODON_00001054	fermented fish or seafood food product	http://purl.obolibrary.org/obo/FOODON_00001258	food (fermented)		
http://purl.obolibrary.org/obo/FOODON_00001141	wheat food product	http://purl.obolibrary.org/obo/FOODON_00001093	cereal grain food product		
http://purl.obolibrary.org/obo/FOODON_00001109	caprine dairy food product	http://purl.obolibrary.org/obo/FOODON_00001107	bovine dairy food product		
http://purl.obolibrary.org/obo/FOODON_00001118	cattle dairy food product	http://purl.obolibrary.org/obo/FOODON_00001107	bovine dairy food product		
http://purl.obolibrary.org/obo/FOODON_00001911	goat dairy food product	http://purl.obolibrary.org/obo/FOODON_00001109	caprine dairy food product		
http://purl.obolibrary.org/obo/FOODON_00001771	cow milk based food product	http://purl.obolibrary.org/obo/FOODON_00001257	milk or milk based food product		
http://purl.obolibrary.org/obo/FOODON_00001093	cereal grain food product	http://purl.obolibrary.org/obo/FOODON_00001173	plant seed food product		
http://purl.obolibrary.org/obo/FOODON_00002471	prepared seafood product	http://purl.obolibrary.org/obo/FOODON_00001180	prepared food product		
http://purl.obolibrary.org/obo/FOODON_00001053	fermented dairy food product	http://purl.obolibrary.org/obo/FOODON_00001258	food (fermented)		
http://purl.obolibrary.org/obo/FOODON_00001107	bovine dairy food product	http://purl.obolibrary.org/obo/FOODON_00001256	dairy food product		
http://purl.obolibrary.org/obo/FOODON_00001257	milk or milk based food product	http://purl.obolibrary.org/obo/FOODON_00001256	dairy food product		
http://purl.obolibrary.org/obo/FOODON_03315150	mammalian milk product	http://purl.obolibrary.org/obo/FOODON_00001257	milk or milk based food product		
http://purl.obolibrary.org/obo/FOODON_00001958	human milk based food product	http://purl.obolibrary.org/obo/FOODON_00001257	milk or milk based food product		
http://purl.obolibrary.org/obo/FOODON_00002044	mollusc food product	http://purl.obolibrary.org/obo/FOODON_00001293	shellfish food product		
http://purl.obolibrary.org/obo/FOODON_03315468	shellfish meat (whole or pieces)	http://purl.obolibrary.org/obo/FOODON_00001293	shellfish food product		
http://purl.obolibrary.org/obo/UBERON_0016509	cavity of right ventricle	http://purl.obolibrary.org/obo/UBERON_0035763	cavity of cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0016513	cavity of left atrium	http://purl.obolibrary.org/obo/UBERON_0035763	cavity of cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0016522	cavity of right atrium	http://purl.obolibrary.org/obo/UBERON_0035763	cavity of cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0016514	cavity of left ventricle	http://purl.obolibrary.org/obo/UBERON_0035763	cavity of cardiac chamber		
http://purl.obolibrary.org/obo/UBERON_0035814	pericardial fat	http://purl.obolibrary.org/obo/UBERON_0035818	visceral fat		
http://purl.obolibrary.org/obo/UBERON_0000415	artery wall	http://purl.obolibrary.org/obo/UBERON_0035965	wall of blood vessel		
http://purl.obolibrary.org/obo/UBERON_0004663	aorta wall	http://purl.obolibrary.org/obo/UBERON_0035965	wall of blood vessel		
http://purl.obolibrary.org/obo/UBERON_0002073	hair follicle	http://purl.obolibrary.org/obo/UBERON_0036150	skin appendage follicle		
http://purl.obolibrary.org/obo/NCBITaxon_1723728	unclassified Polyomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_151341	Polyomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1891714	Betapolyomavirus	http://purl.obolibrary.org/obo/NCBITaxon_151341	Polyomaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_2692248	core chlorophytes	http://purl.obolibrary.org/obo/NCBITaxon_3041	Chlorophyta		
http://purl.obolibrary.org/obo/NCBITaxon_33347	Euheteroptera	http://purl.obolibrary.org/obo/NCBITaxon_33345	Heteroptera		
http://purl.obolibrary.org/obo/NCBITaxon_2683628	Bigyra	http://purl.obolibrary.org/obo/NCBITaxon_33634	Stramenopiles		
http://purl.obolibrary.org/obo/NCBITaxon_2720871	Aspergillus subgen. Circumdati	http://purl.obolibrary.org/obo/NCBITaxon_5052	Aspergillus		
http://purl.obolibrary.org/obo/NCBITaxon_69773	Penicillium glabrum	http://purl.obolibrary.org/obo/NCBITaxon_5073	Penicillium		
http://purl.obolibrary.org/obo/NCBITaxon_31969	Mollicutes	http://purl.obolibrary.org/obo/NCBITaxon_544448	Mycoplasmatota		
http://purl.obolibrary.org/obo/NCBITaxon_2790996	Mycoplasmoidales	http://purl.obolibrary.org/obo/NCBITaxon_544448	Mycoplasmatota		
http://purl.obolibrary.org/obo/NCBITaxon_2605435	Evosea	http://purl.obolibrary.org/obo/NCBITaxon_554915	Amoebozoa		
http://purl.obolibrary.org/obo/NCBITaxon_555280	Discosea	http://purl.obolibrary.org/obo/NCBITaxon_554915	Amoebozoa		
http://purl.obolibrary.org/obo/NCBITaxon_740972	Tritrichomonadida	http://purl.obolibrary.org/obo/NCBITaxon_5719	Parabasalia		
http://purl.obolibrary.org/obo/NCBITaxon_37104	Trichomonadida	http://purl.obolibrary.org/obo/NCBITaxon_5719	Parabasalia		
http://purl.obolibrary.org/obo/NCBITaxon_431838	Intramacronucleata	http://purl.obolibrary.org/obo/NCBITaxon_5878	Ciliophora		
http://purl.obolibrary.org/obo/NCBITaxon_6252	Ascaris lumbricoides	http://purl.obolibrary.org/obo/NCBITaxon_6251	Ascaris		
http://purl.obolibrary.org/obo/NCBITaxon_33343	Prosorrhyncha	http://purl.obolibrary.org/obo/NCBITaxon_7524	Hemiptera		
http://purl.obolibrary.org/obo/NCBITaxon_8839	Anas platyrhynchos	http://purl.obolibrary.org/obo/NCBITaxon_8835	Anas		
http://purl.obolibrary.org/obo/NCBITaxon_8931	Columba	http://purl.obolibrary.org/obo/NCBITaxon_8930	Columbidae		
http://purl.obolibrary.org/obo/NCBITaxon_37347	Tupaia belangeri	http://purl.obolibrary.org/obo/NCBITaxon_9394	Tupaia		
http://purl.obolibrary.org/obo/NCBITaxon_200643	Bacteroidia	http://purl.obolibrary.org/obo/NCBITaxon_976	Bacteroidota		
http://purl.obolibrary.org/obo/SO_0001019	copy_number_variation	http://purl.obolibrary.org/obo/SO_0000248	sequence_length_alteration		
http://purl.obolibrary.org/obo/SO_0000248	sequence_length_alteration	http://purl.obolibrary.org/obo/SO_0001059	sequence_alteration		
http://purl.obolibrary.org/obo/SO_1000008	point_mutation	http://purl.obolibrary.org/obo/SO_0001483	SNV		
http://purl.obolibrary.org/obo/SO_0001483	SNV	http://purl.obolibrary.org/obo/SO_1000002	substitution		
http://purl.obolibrary.org/obo/UBERON_0034874	air in respiratory system	http://purl.obolibrary.org/obo/UBERON_0034947	gas in respiratory system		
http://purl.obolibrary.org/obo/GO_0032060	bleb assembly	http://purl.obolibrary.org/obo/GO_0120031	plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/GO_0010975	regulation of neuron projection development	http://purl.obolibrary.org/obo/GO_0120035	regulation of plasma membrane bounded cell projection organization		
http://purl.obolibrary.org/obo/HP_0000136	Bifid uterus	http://purl.obolibrary.org/obo/HP_0031105	Abnormal uterus morphology		
http://purl.obolibrary.org/obo/HP_0100878	Enlarged uterus	http://purl.obolibrary.org/obo/HP_0031105	Abnormal uterus morphology		
http://purl.obolibrary.org/obo/NCIT_C36285	Endocrine System Finding	http://purl.obolibrary.org/obo/NCIT_C36278	Finding by Site or System		
http://purl.obolibrary.org/obo/NCIT_C37123	Neoplastic Spindle-Shaped to Round Cell	http://purl.obolibrary.org/obo/NCIT_C36887	Neoplastic Connective and Soft Tissue Cell		
http://purl.obolibrary.org/obo/NCIT_C35867	Morphologic Finding	http://purl.obolibrary.org/obo/NCIT_C83490	Histopathology Result		
http://purl.obolibrary.org/obo/FOODON_00002147	food material by consumer group	http://purl.obolibrary.org/obo/FOODON_00002403	food material		
http://purl.obolibrary.org/obo/MONDO_0018607	combined hamartoma of the retina and retinal pigment epithelium	http://purl.obolibrary.org/obo/MONDO_0021220	eye neoplasm		
http://purl.obolibrary.org/obo/MONDO_0019615	pituitary dermoid and epidermoid cysts	http://purl.obolibrary.org/obo/MONDO_0021227	adrenal gland neoplasm		
http://purl.obolibrary.org/obo/HP_0001659	Aortic regurgitation	http://purl.obolibrary.org/obo/HP_0031652	Abnormal aortic valve physiology		
http://purl.obolibrary.org/obo/HP_0001650	Aortic valve stenosis	http://purl.obolibrary.org/obo/HP_0031652	Abnormal aortic valve physiology		
http://purl.obolibrary.org/obo/HP_0004381	Supravalvular aortic stenosis	http://purl.obolibrary.org/obo/HP_0031652	Abnormal aortic valve physiology		
http://purl.obolibrary.org/obo/HP_0010446	Tricuspid stenosis	http://purl.obolibrary.org/obo/HP_0031651	Abnormal tricuspid valve physiology		
http://purl.obolibrary.org/obo/NCBITaxon_11266	Filoviridae	http://purl.obolibrary.org/obo/NCBITaxon_1955138	unclassified Mononegavirales		
http://purl.obolibrary.org/obo/NCBITaxon_8842	Anser	http://purl.obolibrary.org/obo/NCBITaxon_2068722	Anserinae		
http://purl.obolibrary.org/obo/NCBITaxon_2082224	Strongyloidoidea	http://purl.obolibrary.org/obo/NCBITaxon_2082223	Panagrolaimomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_55746	Panagrolaimoidea	http://purl.obolibrary.org/obo/NCBITaxon_2082223	Panagrolaimomorpha		
http://purl.obolibrary.org/obo/ENVO_01000883	area of developed open space	http://purl.obolibrary.org/obo/ENVO_01001200	anthropised terrestrial environmental zone		
http://purl.obolibrary.org/obo/ENVO_01000435	montane forest	http://purl.obolibrary.org/obo/ENVO_01001243	forest ecosystem		
http://purl.obolibrary.org/obo/ENVO_01000869	area of scrub	http://purl.obolibrary.org/obo/ENVO_01001293	bush area		
http://purl.obolibrary.org/obo/ENVO_02500028	planetary erosion	http://purl.obolibrary.org/obo/ENVO_01001346	erosion		
http://purl.obolibrary.org/obo/ENVO_01001372	aerosolised particle formation event	http://purl.obolibrary.org/obo/ENVO_01001366	aerosolised particle formation process		
http://purl.obolibrary.org/obo/FOODON_03304511	seafood newburg (dish)	http://purl.obolibrary.org/obo/FOODON_00002471	prepared seafood product		
http://purl.obolibrary.org/obo/MONDO_0011340	congenital tracheal stenosis	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0007170	atresia of external auditory canal and conductive deafness	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0015568	isolated congenital nasal pyriform aperture stenosis	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0015569	congenital nasal pyriform aperture stenosis with holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0024623	otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0015604	middle ear anomaly	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0024626	defective phagocytic cell engulfment	http://purl.obolibrary.org/obo/MONDO_0024627	phagocytic cell dysfunction		
http://purl.obolibrary.org/obo/MONDO_0024630	defective phagocytic cell chemotaxis	http://purl.obolibrary.org/obo/MONDO_0024627	phagocytic cell dysfunction		
http://purl.obolibrary.org/obo/MONDO_0024632	defective phagocytic cell opsonization	http://purl.obolibrary.org/obo/MONDO_0024627	phagocytic cell dysfunction		
http://purl.obolibrary.org/obo/MONDO_0971086	small intestine duplication	http://purl.obolibrary.org/obo/MONDO_0024635	small intestine disorder		
http://purl.obolibrary.org/obo/MONDO_0018669	snakebite envenomation	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0018741	paracetamol poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0018754	cyanide poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0019544	cocaine intoxication	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0023176	formaldehyde poisoning	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0027653	abacavir toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0027655	allopurinol toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0027666	codeine toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0027667	efavirenz toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0027668	flucloxacilline toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0027677	isoniazid toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0027687	raltegravir toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0027696	voriconazole toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0033169	curariform drugs toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0033170	statin toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0033181	phenytoin or carbamazepine toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0035350	letrozole toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0035875	ivermectin toxicity	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0035876	belinostat toxicity or dose selection	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0036025	toxicity to dolutegravir	http://purl.obolibrary.org/obo/MONDO_0029000	poisoning		
http://purl.obolibrary.org/obo/MONDO_0016211	non-papillary transitional cell carcinoma of the bladder	http://purl.obolibrary.org/obo/MONDO_0040679	urothelial carcinoma		
http://purl.obolibrary.org/obo/MONDO_0007181	axial osteomalacia	http://purl.obolibrary.org/obo/MONDO_0042973	familial osteosclerosis		
http://purl.obolibrary.org/obo/MONDO_0008135	optic atrophy 13 with retinal and foveal abnormalities	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0009786	optic atrophy 6	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0011536	optic atrophy 4	http://purl.obolibrary.org/obo/MONDO_0043878	hereditary optic atrophy		
http://purl.obolibrary.org/obo/MONDO_0017211	infectious panuveitis	http://purl.obolibrary.org/obo/MONDO_0017255	panuveitis		
http://purl.obolibrary.org/obo/MONDO_0018408	cystic echinococcosis	http://purl.obolibrary.org/obo/MONDO_0044346	echinococcus granulosus infectious disease		
http://purl.obolibrary.org/obo/MONDO_0044348	hemoglobinopathy	http://purl.obolibrary.org/obo/MONDO_0044347	erythrocyte disorder		
http://purl.obolibrary.org/obo/MONDO_0971111	intraoral basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044925	oral cavity carcinoma		
http://purl.obolibrary.org/obo/MONDO_0044982	drug pseudoallergy	http://purl.obolibrary.org/obo/MONDO_0044981	pseudoallergy		
http://purl.obolibrary.org/obo/MONDO_0850123	autonomic nervous system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0056804	benign neoplasm of peripheral nervous system		
http://purl.obolibrary.org/obo/MONDO_0016933	partial trisomy/tetrasomy of the short arm of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0042968	partial duplication of chromosome 12		
http://purl.obolibrary.org/obo/CL_0000816	immature B cell	http://purl.obolibrary.org/obo/CL_0001201	B cell, CD19-positive		
http://purl.obolibrary.org/obo/CL_0000817	precursor B cell	http://purl.obolibrary.org/obo/CL_0001201	B cell, CD19-positive		
http://purl.obolibrary.org/obo/CL_0000818	transitional stage B cell	http://purl.obolibrary.org/obo/CL_0001201	B cell, CD19-positive		
http://purl.obolibrary.org/obo/HP_0012072	Aciduria	http://purl.obolibrary.org/obo/HP_0032943	Abnormal urine pH		
http://purl.obolibrary.org/obo/MONDO_0020763	Menke-Hennekam syndrome 1	http://purl.obolibrary.org/obo/MONDO_0020774	Menke-Hennekam syndrome		
http://purl.obolibrary.org/obo/MONDO_0020769	Menke-Hennekam syndrome 2	http://purl.obolibrary.org/obo/MONDO_0020774	Menke-Hennekam syndrome		
http://purl.obolibrary.org/obo/NCIT_C165744	Hormone Receptor Negative	http://purl.obolibrary.org/obo/NCIT_C188928	Hormone Receptor Status		
http://purl.obolibrary.org/obo/NCIT_C68749	HER2/Neu Negative	http://purl.obolibrary.org/obo/NCIT_C16152	HER2/Neu Status		
http://purl.obolibrary.org/obo/NCBITaxon_1206795	Lophotrochozoa	http://purl.obolibrary.org/obo/NCBITaxon_2697495	Spiralia		
http://purl.obolibrary.org/obo/NCBITaxon_33630	Alveolata	http://purl.obolibrary.org/obo/NCBITaxon_2698737	Sar		
http://purl.obolibrary.org/obo/NCBITaxon_543769	Rhizaria	http://purl.obolibrary.org/obo/NCBITaxon_2698737	Sar		
http://purl.obolibrary.org/obo/NCBITaxon_33634	Stramenopiles	http://purl.obolibrary.org/obo/NCBITaxon_2698737	Sar		
http://purl.obolibrary.org/obo/NCBITaxon_5061	Aspergillus niger	http://purl.obolibrary.org/obo/NCBITaxon_2720871	Aspergillus subgen. Circumdati		
http://purl.obolibrary.org/obo/NCBITaxon_452563	Cladosporiaceae	http://purl.obolibrary.org/obo/NCBITaxon_2726946	Cladosporiales		
http://purl.obolibrary.org/obo/MONDO_0011376	ventricular fibrillation, paroxysmal familial, type 1	http://purl.obolibrary.org/obo/MONDO_1010181	SCN5A-related cardiac rhythm disorder		
http://purl.obolibrary.org/obo/UBERON_0005217	midbrain subarachnoid space	http://purl.obolibrary.org/obo/UBERON_0039175	subarachnoid space of brain		
http://purl.obolibrary.org/obo/UBERON_0005218	diencephalon subarachnoid space	http://purl.obolibrary.org/obo/UBERON_0039175	subarachnoid space of brain		
http://purl.obolibrary.org/obo/UBERON_0005219	hindbrain subarachnoid space	http://purl.obolibrary.org/obo/UBERON_0039175	subarachnoid space of brain		
http://purl.obolibrary.org/obo/UBERON_0005203	trachea gland	http://purl.obolibrary.org/obo/UBERON_8410077	airway submucosal gland		
http://purl.obolibrary.org/obo/UBERON_8410043	bronchus submucosal gland	http://purl.obolibrary.org/obo/UBERON_8410077	airway submucosal gland		
http://purl.obolibrary.org/obo/GO_0043129	surfactant homeostasis	http://purl.obolibrary.org/obo/GO_0140962	multicellular organismal-level chemical homeostasis		
http://purl.obolibrary.org/obo/MONDO_0009081	deafness, congenital, with total albinism	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		
http://purl.obolibrary.org/obo/MONDO_0012446	seborrhea-like dermatitis with psoriasiform elements	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		
http://purl.obolibrary.org/obo/MONDO_0000118	reticulate pigment disorder	http://purl.obolibrary.org/obo/MONDO_0019288	skin pigmentation disorder		
http://purl.obolibrary.org/obo/MONDO_0013806	familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		
http://purl.obolibrary.org/obo/HP_0012206	Abnormal sperm motility	http://purl.obolibrary.org/obo/HP_0034809	Abnormal sperm physiology		
http://purl.obolibrary.org/obo/HP_0002023	Anal atresia	http://purl.obolibrary.org/obo/HP_0034915	Abnormal anus morphology		
http://purl.obolibrary.org/obo/HP_0002025	Anal stenosis	http://purl.obolibrary.org/obo/HP_0034915	Abnormal anus morphology		
http://purl.obolibrary.org/obo/HP_0004397	Ectopic anus	http://purl.obolibrary.org/obo/HP_0034915	Abnormal anus morphology		
http://purl.obolibrary.org/obo/MONDO_7770652	cholesteryl ester storage disease, dog	http://purl.obolibrary.org/obo/MONDO_1010860	lysosomal storage disease, dog		
http://purl.obolibrary.org/obo/MONDO_7770742	polycystic kidney disease, macaque	http://purl.obolibrary.org/obo/MONDO_1011052	polycystic kidney disease, crab-eating macaque		
http://purl.obolibrary.org/obo/NCBITaxon_8929	Columbiformes	http://purl.obolibrary.org/obo/NCBITaxon_3073799	Columbimorphae		
http://purl.obolibrary.org/obo/NCIT_C36278	Finding by Site or System	http://purl.obolibrary.org/obo/NCIT_C3367	Finding		
http://purl.obolibrary.org/obo/NCIT_C77140	Clinical Test Result	http://purl.obolibrary.org/obo/NCIT_C3367	Finding		
http://purl.obolibrary.org/obo/NCIT_C35461	Clinical Course of Disease	http://purl.obolibrary.org/obo/NCIT_C3367	Finding		
http://purl.obolibrary.org/obo/NCIT_C35886	Morphologic Architectural Pattern	http://purl.obolibrary.org/obo/NCIT_C35867	Morphologic Finding		
http://purl.obolibrary.org/obo/NCIT_C103223	Genetic Finding	http://purl.obolibrary.org/obo/NCIT_C36292	Laboratory Test Result		
http://purl.obolibrary.org/obo/NCIT_C35682	Positive Laboratory Test Result	http://purl.obolibrary.org/obo/NCIT_C36292	Laboratory Test Result		
http://purl.obolibrary.org/obo/NCIT_C125581	Pathology Result	http://purl.obolibrary.org/obo/NCIT_C36292	Laboratory Test Result		
http://purl.obolibrary.org/obo/NCIT_C38328	Unfavorable Clinical Outcome	http://purl.obolibrary.org/obo/NCIT_C50995	Disease Response		
http://purl.obolibrary.org/obo/NCIT_C35681	Negative Test Result	http://purl.obolibrary.org/obo/NCIT_C77140	Clinical Test Result		
http://purl.obolibrary.org/obo/NCIT_C36292	Laboratory Test Result	http://purl.obolibrary.org/obo/NCIT_C77140	Clinical Test Result		
http://purl.obolibrary.org/obo/NCIT_C19683	Personal Behavior	http://purl.obolibrary.org/obo/NCIT_C16326	Behavior		
http://purl.obolibrary.org/obo/NCIT_C12664	Abdomen	http://purl.obolibrary.org/obo/NCIT_C25444	Body Cavity		
http://purl.obolibrary.org/obo/NCIT_C158948	Rearrangement Detected	http://purl.obolibrary.org/obo/NCIT_C35682	Positive Laboratory Test Result		
http://purl.obolibrary.org/obo/NCIT_C177692	Expression Positive	http://purl.obolibrary.org/obo/NCIT_C35682	Positive Laboratory Test Result		
http://purl.obolibrary.org/obo/NCIT_C138155	TRK Receptor Family Alteration Positive	http://purl.obolibrary.org/obo/NCIT_C35682	Positive Laboratory Test Result		
http://purl.obolibrary.org/obo/NCIT_C36807	Dysplastic Epithelial Cell	http://purl.obolibrary.org/obo/NCIT_C36753	Neoplastic Epithelial Cell		
http://purl.obolibrary.org/obo/NCIT_C36849	Neoplastic Epithelial Spindle Cell	http://purl.obolibrary.org/obo/NCIT_C36823	Neoplastic Spindle Cell		
http://purl.obolibrary.org/obo/NCIT_C53637	Malignant Spindle Cell	http://purl.obolibrary.org/obo/NCIT_C36823	Neoplastic Spindle Cell		
http://purl.obolibrary.org/obo/NCIT_C15497	Progesterone Receptor Negative	http://purl.obolibrary.org/obo/NCIT_C165744	Hormone Receptor Negative		
http://purl.obolibrary.org/obo/NCIT_C15493	Estrogen Receptor Negative	http://purl.obolibrary.org/obo/NCIT_C165744	Hormone Receptor Negative		
http://purl.obolibrary.org/obo/MONDO_0007084	familial focal alopecia	http://purl.obolibrary.org/obo/MONDO_0000005	alopecia, isolated		
http://purl.obolibrary.org/obo/MONDO_0008309	primary release disorder of platelets	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		
http://purl.obolibrary.org/obo/MONDO_0013622	platelet-type bleeding disorder 9	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		
http://purl.obolibrary.org/obo/MONDO_0030996	bleeding disorder, platelet-type, 24	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		
http://purl.obolibrary.org/obo/MONDO_0032765	bleeding disorder, platelet-type, 22	http://purl.obolibrary.org/obo/MONDO_0000009	inherited bleeding disorder, platelet-type		
http://purl.obolibrary.org/obo/MONDO_0007361	C1 inhibitor deficiency	http://purl.obolibrary.org/obo/MONDO_0000015	classic complement early component deficiency		
http://purl.obolibrary.org/obo/MONDO_0032844	infantile liver failure syndrome 3	http://purl.obolibrary.org/obo/MONDO_0000023	infantile liver failure		
http://purl.obolibrary.org/obo/MONDO_0011231	febrile seizures, familial, 2	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0012224	febrile seizures, familial, 6	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0012226	febrile seizures, familial, 5	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0012681	febrile seizures, familial, 7	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0012707	familial febrile seizures 9	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0012972	febrile seizures, familial, 10	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0800329	febrile seizures, familial, 3a	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0800354	febrile seizures, familial, 3b	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0007367	febrile seizures, familial, 1	http://purl.obolibrary.org/obo/MONDO_0000032	febrile seizures, familial		
http://purl.obolibrary.org/obo/MONDO_0026731	hypothyroidism, congenital, nongoitrous, 8	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		
http://purl.obolibrary.org/obo/MONDO_0026732	hypothyroidism, congenital, nongoitrous, 9	http://purl.obolibrary.org/obo/MONDO_0000045	hypothyroidism, congenital, nongoitrous		
http://purl.obolibrary.org/obo/MONDO_0007995	microphthalmia, isolated, with cataract 1	http://purl.obolibrary.org/obo/MONDO_0016764	isolated anophthalmia-microphthalmia syndrome		
http://purl.obolibrary.org/obo/MONDO_0012969	microvascular complications of diabetes, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0000065	microvascular complications of diabetes, susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012971	microvascular complications of diabetes, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0000065	microvascular complications of diabetes, susceptibility		
http://purl.obolibrary.org/obo/MONDO_0010282	Mycobacterium tuberculosis, susceptibility to, X-linked	http://purl.obolibrary.org/obo/MONDO_0000070	Mycobacterium tuberculosis, susceptibility		
http://purl.obolibrary.org/obo/MONDO_0011941	Mycobacterium tuberculosis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0000070	Mycobacterium tuberculosis, susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012606	Mycobacterium tuberculosis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0000070	Mycobacterium tuberculosis, susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013045	Mycobacterium tuberculosis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0000070	Mycobacterium tuberculosis, susceptibility		
http://purl.obolibrary.org/obo/MONDO_0020845	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	http://purl.obolibrary.org/obo/MONDO_0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions		
http://purl.obolibrary.org/obo/MONDO_0008789	anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane	http://purl.obolibrary.org/obo/MONDO_0000105	anemia, nonspherocytic hemolytic		
http://purl.obolibrary.org/obo/MONDO_0008790	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism	http://purl.obolibrary.org/obo/MONDO_0000105	anemia, nonspherocytic hemolytic		
http://purl.obolibrary.org/obo/MONDO_0022715	Chiari malformation type 3	http://purl.obolibrary.org/obo/MONDO_0000115	Chiari malformation		
http://purl.obolibrary.org/obo/MONDO_0022716	Chiari malformation type 4	http://purl.obolibrary.org/obo/MONDO_0000115	Chiari malformation		
http://purl.obolibrary.org/obo/MONDO_0957533	megalencephalic leukoencephalopathy with subcortical cysts 3	http://purl.obolibrary.org/obo/MONDO_0000137	leukoencephalopathy, megalencephalic		
http://purl.obolibrary.org/obo/MONDO_0957534	megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	http://purl.obolibrary.org/obo/MONDO_0000137	leukoencephalopathy, megalencephalic		
http://purl.obolibrary.org/obo/MONDO_0859575	Atelis syndrome 1	http://purl.obolibrary.org/obo/MONDO_0859393	Atelis syndrome		
http://purl.obolibrary.org/obo/MONDO_0859576	Atelis syndrome 2	http://purl.obolibrary.org/obo/MONDO_0859393	Atelis syndrome		
http://purl.obolibrary.org/obo/MONDO_0859329	mosaic variegated aneuploidy syndrome 4	http://purl.obolibrary.org/obo/MONDO_0000141	mosaic variegated aneuploidy syndrome		
http://purl.obolibrary.org/obo/MONDO_0859346	mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	http://purl.obolibrary.org/obo/MONDO_0000141	mosaic variegated aneuploidy syndrome		
http://purl.obolibrary.org/obo/MONDO_0957261	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		
http://purl.obolibrary.org/obo/MONDO_0957263	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		
http://purl.obolibrary.org/obo/MONDO_0957294	pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		
http://purl.obolibrary.org/obo/MONDO_0030690	pulmonary fibrosis and/or bone marrow failure, telomere-related, 6	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		
http://purl.obolibrary.org/obo/MONDO_0032865	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		
http://purl.obolibrary.org/obo/MONDO_0013879	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	http://purl.obolibrary.org/obo/MONDO_0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related		
http://purl.obolibrary.org/obo/MONDO_0013761	childhood encephalopathy due to thiamine pyrophosphokinase deficiency	http://purl.obolibrary.org/obo/MONDO_0000152	thiamine-responsive dysfunction syndrome		
http://purl.obolibrary.org/obo/MONDO_0008601	triglyceride storage disease, type 1	http://purl.obolibrary.org/obo/MONDO_0000155	triglyceride storage disease		
http://purl.obolibrary.org/obo/MONDO_0008602	triglyceride storage disease, type 2	http://purl.obolibrary.org/obo/MONDO_0000155	triglyceride storage disease		
http://purl.obolibrary.org/obo/MONDO_0020856	bone marrow failure syndrome 4	http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome		
http://purl.obolibrary.org/obo/MONDO_0030015	bone marrow failure syndrome 6	http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome		
http://purl.obolibrary.org/obo/MONDO_0030894	AMED syndrome, digenic	http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome		
http://purl.obolibrary.org/obo/MONDO_0032573	bone marrow failure syndrome 5	http://purl.obolibrary.org/obo/MONDO_0000159	bone marrow failure syndrome		
http://purl.obolibrary.org/obo/MONDO_0010985	epilepsy, familial adult myoclonic, 1	http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic		
http://purl.obolibrary.org/obo/MONDO_0013322	epilepsy, familial adult myoclonic, 3	http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic		
http://purl.obolibrary.org/obo/MONDO_0054846	epilepsy, familial adult myoclonic, 6	http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic		
http://purl.obolibrary.org/obo/MONDO_0054847	epilepsy, familial adult myoclonic, 7	http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic		
http://purl.obolibrary.org/obo/MONDO_0014055	epilepsy, familial adult myoclonic, 4	http://purl.obolibrary.org/obo/MONDO_0000160	epilepsy, familial adult myoclonic		
http://purl.obolibrary.org/obo/MONDO_0010304	Graves disease, susceptibility to, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0000162	autoimmune thyroid disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011314	Graves disease, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0000162	autoimmune thyroid disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011980	autoimmune thyroid disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0000162	autoimmune thyroid disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011981	autoimmune thyroid disease, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0000162	autoimmune thyroid disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011982	autoimmune thyroid disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0000162	autoimmune thyroid disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011983	autoimmune thyroid disease, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0000162	autoimmune thyroid disease, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0015548	Huntington disease-like syndrome	http://purl.obolibrary.org/obo/MONDO_0015547	hereditary dementia		
http://purl.obolibrary.org/obo/MONDO_0011589	microphthalmia with coloboma 2	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		
http://purl.obolibrary.org/obo/MONDO_0009630	microphthalmia, isolated, with coloboma 4	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		
http://purl.obolibrary.org/obo/MONDO_0800324	microphthalmia, isolated, with coloboma 8	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		
http://purl.obolibrary.org/obo/MONDO_0013376	microphthalmia, isolated, with coloboma 6	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		
http://purl.obolibrary.org/obo/MONDO_0958239	microphthalmia/coloboma 11	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		
http://purl.obolibrary.org/obo/MONDO_0024549	microphthalmia with coloboma 1	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		
http://purl.obolibrary.org/obo/MONDO_0975809	microphthalmia/coloboma 13	http://purl.obolibrary.org/obo/MONDO_0000170	microphthalmia, isolated, with coloboma		
http://purl.obolibrary.org/obo/MONDO_0014141	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14	http://purl.obolibrary.org/obo/MONDO_0700084	myopathy caused by variation in GMPPB		
http://purl.obolibrary.org/obo/MONDO_0020739	hypercalcemia, infantile, 1	http://purl.obolibrary.org/obo/MONDO_0000212	hypercalcemia, infantile		
http://purl.obolibrary.org/obo/MONDO_0957388	autoimmune disease, multisystem, infantile-onset, 3	http://purl.obolibrary.org/obo/MONDO_0000213	autoimmune disease, multisystem, infantile-onset		
http://purl.obolibrary.org/obo/MONDO_0979235	autoimmune disease, multisystem, infantile-onset, 5	http://purl.obolibrary.org/obo/MONDO_0000213	autoimmune disease, multisystem, infantile-onset		
http://purl.obolibrary.org/obo/MONDO_0975910	splenic venous malformation	http://purl.obolibrary.org/obo/MONDO_0024291	vascular malformation		
http://purl.obolibrary.org/obo/UBERON_0005031	mucosa of upper lip	http://purl.obolibrary.org/obo/UBERON_0036294	mucosa of lip		
http://purl.obolibrary.org/obo/UBERON_0005032	mucosa of lower lip	http://purl.obolibrary.org/obo/UBERON_0036294	mucosa of lip		
http://purl.obolibrary.org/obo/IAO_8000016	taxonomic bridge ontology module	http://purl.obolibrary.org/obo/IAO_8000004	bridge ontology module		
http://purl.obolibrary.org/obo/IAO_8000019	ontology module subsetted by OWL profile	http://purl.obolibrary.org/obo/IAO_8000017	ontology module subsetted by expressivity		
http://purl.obolibrary.org/obo/IAO_8000020	EL++ ontology module	http://purl.obolibrary.org/obo/IAO_8000019	ontology module subsetted by OWL profile		
http://purl.obolibrary.org/obo/MONDO_0019674	postaxial polydactyly type B	http://purl.obolibrary.org/obo/MONDO_0020927	postaxial polydactyly		
http://purl.obolibrary.org/obo/MONDO_0032603	polydactyly, postaxial, type A9	http://purl.obolibrary.org/obo/MONDO_0020927	postaxial polydactyly		
http://purl.obolibrary.org/obo/MONDO_0032785	polydactyly, postaxial, type a10	http://purl.obolibrary.org/obo/MONDO_0020927	postaxial polydactyly		
http://purl.obolibrary.org/obo/CL_1000330	serous cell of epithelium of trachea	http://purl.obolibrary.org/obo/CL_0019001	tracheobronchial serous cell		
http://purl.obolibrary.org/obo/CL_1000331	serous cell of epithelium of bronchus	http://purl.obolibrary.org/obo/CL_0019001	tracheobronchial serous cell		
http://purl.obolibrary.org/obo/MONDO_0010411	pyloric stenosis, infantile hypertrophic, 4	http://purl.obolibrary.org/obo/MONDO_0100239	inherited hypertrophic pyloric stenosis		
http://purl.obolibrary.org/obo/MONDO_0012457	pyloric stenosis, infantile hypertrophic, 2	http://purl.obolibrary.org/obo/MONDO_0100239	inherited hypertrophic pyloric stenosis		
http://purl.obolibrary.org/obo/MONDO_0012785	pyloric stenosis, infantile hypertrophic, 3	http://purl.obolibrary.org/obo/MONDO_0100239	inherited hypertrophic pyloric stenosis		
http://purl.obolibrary.org/obo/MONDO_0012922	pyloric stenosis, infantile hypertrophic, 5	http://purl.obolibrary.org/obo/MONDO_0100239	inherited hypertrophic pyloric stenosis		
http://purl.obolibrary.org/obo/MONDO_0008556	thrombocytopenia, cyclic	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0010120	thrombocytopenia 3	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0010743	thrombocytopenia 1	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0958325	thrombocytopenia 12 with or without myopathy	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0958333	thrombocytopenia 13, syndromic	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0031447	macrothrombocytopenia, isolated	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0030867	thrombocytopenia 7	http://purl.obolibrary.org/obo/MONDO_0100241	inherited thrombocytopenia		
http://purl.obolibrary.org/obo/MONDO_0011851	migraine with or without aura, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0010253	migraine, familial typical, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011845	migraine with or without aura, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011850	migraine with or without aura, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012210	migraine with aura, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012303	migraine with or without aura, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012331	migraine with aura, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012440	migraine with or without aura, susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012441	migraine with or without aura, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012715	migraine with or without aura, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0100246	migraine with or without aura, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012491	macroglobulinemia, Waldenstrom, 2	http://purl.obolibrary.org/obo/MONDO_0100280	Waldenstrom macroglobulinemia		
http://purl.obolibrary.org/obo/MONDO_0100281	macroglobulinemia, Waldenstrom, 1	http://purl.obolibrary.org/obo/MONDO_0100280	Waldenstrom macroglobulinemia		
http://purl.obolibrary.org/obo/HP_0003401	Paresthesia	http://purl.obolibrary.org/obo/HP_0033747	Abnormal exteroceptive sensation		
http://purl.obolibrary.org/obo/HP_0100963	Hyperesthesia	http://purl.obolibrary.org/obo/HP_0033747	Abnormal exteroceptive sensation		
http://purl.obolibrary.org/obo/HP_0006703	Aplasia/Hypoplasia of the lungs	http://purl.obolibrary.org/obo/HP_4000059	Abnormal lung development		
http://purl.obolibrary.org/obo/HP_0011615	Abnormal pulmonary situs morphology	http://purl.obolibrary.org/obo/HP_4000059	Abnormal lung development		
http://purl.obolibrary.org/obo/MONDO_0010486	Olmsted syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0031421	Olmsted syndrome		
http://purl.obolibrary.org/obo/MONDO_0030961	Olmsted syndrome 2	http://purl.obolibrary.org/obo/MONDO_0031421	Olmsted syndrome		
http://purl.obolibrary.org/obo/MONDO_0031010	odontochondrodysplasia 2 with hearing loss and diabetes	http://purl.obolibrary.org/obo/MONDO_0031169	odontochondrodysplasia		
http://purl.obolibrary.org/obo/MONDO_0030935	mitochondrial complex 2 deficiency, nuclear type 2	http://purl.obolibrary.org/obo/MONDO_0031230	mitochondrial complex II deficiency, nuclear type		
http://purl.obolibrary.org/obo/MONDO_0030953	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	http://purl.obolibrary.org/obo/MONDO_0031439	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		
http://purl.obolibrary.org/obo/MONDO_0100297	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	http://purl.obolibrary.org/obo/MONDO_0031439	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		
http://purl.obolibrary.org/obo/MONDO_0031009	Glanzmann thrombasthenia 2	http://purl.obolibrary.org/obo/MONDO_0100326	Glanzmann thrombasthenia		
http://purl.obolibrary.org/obo/MONDO_0031003	hypercholanemia, familial, 2	http://purl.obolibrary.org/obo/MONDO_0100327	hypercholanemia, familial		
http://purl.obolibrary.org/obo/MONDO_0025690	microcephaly, epilepsy, and diabetes syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100328	microcephaly, epilepsy, and diabetes syndrome		
http://purl.obolibrary.org/obo/MONDO_0031481	microcephaly, epilepsy, and diabetes syndrome 1	http://purl.obolibrary.org/obo/MONDO_0100328	microcephaly, epilepsy, and diabetes syndrome		
http://purl.obolibrary.org/obo/MONDO_0032678	developmental and epileptic encephalopathy, 71	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/SO_0001268	snRNA_gene	http://purl.obolibrary.org/obo/SO_0002342	sncRNA_gene		
http://purl.obolibrary.org/obo/NCBITaxon_11286	Lyssavirus	http://purl.obolibrary.org/obo/NCBITaxon_2842407	Alpharhabdovirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2895623	Metamycoplasmataceae	http://purl.obolibrary.org/obo/NCBITaxon_2790996	Mycoplasmoidales		
http://purl.obolibrary.org/obo/NCBITaxon_2790998	Mycoplasmoidaceae	http://purl.obolibrary.org/obo/NCBITaxon_2790996	Mycoplasmoidales		
http://purl.obolibrary.org/obo/NCBITaxon_2129	Ureaplasma	http://purl.obolibrary.org/obo/NCBITaxon_2790998	Mycoplasmoidaceae		
http://purl.obolibrary.org/obo/NCBITaxon_8459	Testudines	http://purl.obolibrary.org/obo/NCBITaxon_2841271	Testudinata		
http://purl.obolibrary.org/obo/NCBITaxon_3471199	Ribozyviria incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_2842242	Ribozyviria		
http://purl.obolibrary.org/obo/NCBITaxon_39759	Deltavirus	http://purl.obolibrary.org/obo/NCBITaxon_2842321	Kolmioviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11041	Rubella virus	http://purl.obolibrary.org/obo/NCBITaxon_2846071	Rubivirus rubellae		
http://purl.obolibrary.org/obo/NCBITaxon_570	Klebsiella	http://purl.obolibrary.org/obo/NCBITaxon_2890311	Klebsiella/Raoultella group		
http://purl.obolibrary.org/obo/NCBITaxon_227984	SARS coronavirus Tor2	http://purl.obolibrary.org/obo/NCBITaxon_2901879	Severe acute respiratory syndrome coronavirus		
http://purl.obolibrary.org/obo/MONDO_0030839	thyroid hormone metabolism, abnormal, 2	http://purl.obolibrary.org/obo/MONDO_0031432	thyroid hormone metabolism, abnormal		
http://purl.obolibrary.org/obo/MONDO_0859354	thyroid hormone metabolism, abnormal, 3	http://purl.obolibrary.org/obo/MONDO_0031432	thyroid hormone metabolism, abnormal		
http://purl.obolibrary.org/obo/MONDO_0957487	idiopathic catatonia	http://purl.obolibrary.org/obo/MONDO_0800105	catatonia		
http://purl.obolibrary.org/obo/MONDO_0014387	leukoencephalopathy, progressive, with ovarian failure	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		
http://purl.obolibrary.org/obo/MONDO_0015520	late infantile CACH syndrome	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		
http://purl.obolibrary.org/obo/MONDO_0015521	juvenile or adult CACH syndrome	http://purl.obolibrary.org/obo/MONDO_0800448	leukoencephalopathy with vanishing white matter		
http://purl.obolibrary.org/obo/MONDO_0030005	epilepsy, early-onset, with or without developmental delay	http://purl.obolibrary.org/obo/MONDO_0957599	epilepsy, early-onset		
http://purl.obolibrary.org/obo/HP_0012760	Reduced social responsiveness	http://purl.obolibrary.org/obo/HP_0025732	Abnormal social development		
http://purl.obolibrary.org/obo/MONDO_0700338	autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0975955	autoinflammation, panniculitis, and dermatosis syndrome		
http://purl.obolibrary.org/obo/MONDO_0980721	rhabdomyolysis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0979250	rhabdomyolysis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0859371	rhabdomyolysis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0979250	rhabdomyolysis, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0980726	Ververi-Brady syndrome 2	http://purl.obolibrary.org/obo/MONDO_0979877	Ververi-Brady syndrome		
http://purl.obolibrary.org/obo/CL_0002000	Kit-positive erythroid progenitor cell	http://purl.obolibrary.org/obo/CL_0001066	erythroid progenitor cell, mammalian		
http://purl.obolibrary.org/obo/CL_0002003	CD34-positive, GlyA-negative erythroid progenitor cell	http://purl.obolibrary.org/obo/CL_0001066	erythroid progenitor cell, mammalian		
http://purl.obolibrary.org/obo/CL_0000335	mesenchyme condensation cell	http://purl.obolibrary.org/obo/CL_0008019	mesenchymal cell		
http://purl.obolibrary.org/obo/CL_0000569	cardiac mesenchymal cell	http://purl.obolibrary.org/obo/CL_2000073	migratory cardiac neural crest cell		
http://purl.obolibrary.org/obo/CL_2000059	prostate gland microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_2000071	mammary microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_2000008	microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_2000091	endometrial microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_0009095	endothelial cell of uterus		
http://purl.obolibrary.org/obo/CL_0011030	dermal microvascular endothelial cell	http://purl.obolibrary.org/obo/CL_2000010	dermis blood vessel endothelial cell		
http://purl.obolibrary.org/obo/CL_2000041	dermis microvascular lymphatic vessel endothelial cell	http://purl.obolibrary.org/obo/CL_0011030	dermal microvascular endothelial cell		
http://purl.obolibrary.org/obo/CL_0000099	interneuron	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000104	multipolar neuron	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000117	CNS neuron (sensu Vertebrata)	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000120	granule cell	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0000122	stellate neuron	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_0002612	neuron of the ventral spinal cord	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_1001503	olfactory bulb tufted cell	http://purl.obolibrary.org/obo/CL_2000029	central nervous system neuron		
http://purl.obolibrary.org/obo/CL_4023168	somatosensory neuron	http://purl.obolibrary.org/obo/CL_2000032	peripheral nervous system neuron		
http://purl.obolibrary.org/obo/NCBITaxon_105391	Canalipalpata	http://purl.obolibrary.org/obo/NCBITaxon_105389	Sedentaria		
http://purl.obolibrary.org/obo/NCBITaxon_6362	Sabellida	http://purl.obolibrary.org/obo/NCBITaxon_105391	Canalipalpata		
http://purl.obolibrary.org/obo/NCBITaxon_1547233	Xenoturbellidae	http://purl.obolibrary.org/obo/NCBITaxon_110814	Xenoturbellida		
http://purl.obolibrary.org/obo/NCBITaxon_7761	Myxiniformes	http://purl.obolibrary.org/obo/NCBITaxon_117565	Myxini		
http://purl.obolibrary.org/obo/NCBITaxon_7745	Petromyzontiformes	http://purl.obolibrary.org/obo/NCBITaxon_117569	Hyperoartia		
http://purl.obolibrary.org/obo/NCBITaxon_1489872	Percomorphaceae	http://purl.obolibrary.org/obo/NCBITaxon_123369	Euacanthomorphacea		
http://purl.obolibrary.org/obo/NCBITaxon_110814	Xenoturbellida	http://purl.obolibrary.org/obo/NCBITaxon_1312402	Xenacoelomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_147099	Acoelomorpha	http://purl.obolibrary.org/obo/NCBITaxon_1312402	Xenacoelomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_8570	Serpentes	http://purl.obolibrary.org/obo/NCBITaxon_1329911	Toxicofera		
http://purl.obolibrary.org/obo/NCBITaxon_1329911	Toxicofera	http://purl.obolibrary.org/obo/NCBITaxon_1329912	Episquamata		
http://purl.obolibrary.org/obo/NCBITaxon_1329912	Episquamata	http://purl.obolibrary.org/obo/NCBITaxon_1329950	Unidentata		
http://purl.obolibrary.org/obo/NCBITaxon_8560	Gekkota	http://purl.obolibrary.org/obo/NCBITaxon_1329961	Bifurcata		
http://purl.obolibrary.org/obo/NCBITaxon_1329950	Unidentata	http://purl.obolibrary.org/obo/NCBITaxon_1329961	Bifurcata		
http://purl.obolibrary.org/obo/NCBITaxon_117565	Myxini	http://purl.obolibrary.org/obo/NCBITaxon_1476529	Cyclostomata		
http://purl.obolibrary.org/obo/NCBITaxon_117569	Hyperoartia	http://purl.obolibrary.org/obo/NCBITaxon_1476529	Cyclostomata		
http://purl.obolibrary.org/obo/NCBITaxon_186624	Elopocephala	http://purl.obolibrary.org/obo/NCBITaxon_1489340	Elopocephalai		
http://purl.obolibrary.org/obo/NCBITaxon_1489908	Ovalentaria	http://purl.obolibrary.org/obo/NCBITaxon_1489872	Percomorphaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1489922	Eupercaria	http://purl.obolibrary.org/obo/NCBITaxon_1489872	Percomorphaceae		
http://purl.obolibrary.org/obo/NCBITaxon_1489913	Atherinomorphae	http://purl.obolibrary.org/obo/NCBITaxon_1489908	Ovalentaria		
http://purl.obolibrary.org/obo/NCBITaxon_76071	Beloniformes	http://purl.obolibrary.org/obo/NCBITaxon_1489913	Atherinomorphae		
http://purl.obolibrary.org/obo/NCBITaxon_31022	Tetraodontiformes	http://purl.obolibrary.org/obo/NCBITaxon_1489922	Eupercaria		
http://purl.obolibrary.org/obo/NCBITaxon_8111	Perciformes	http://purl.obolibrary.org/obo/NCBITaxon_1489922	Eupercaria		
http://purl.obolibrary.org/obo/NCBITaxon_189497	Echidna	http://purl.obolibrary.org/obo/NCBITaxon_182222	Muraeninae		
http://purl.obolibrary.org/obo/NCBITaxon_32521	Elopomorpha	http://purl.obolibrary.org/obo/NCBITaxon_186624	Elopocephala		
http://purl.obolibrary.org/obo/NCBITaxon_9592	Gorilla	http://purl.obolibrary.org/obo/NCBITaxon_207598	Homininae		
http://purl.obolibrary.org/obo/NCBITaxon_9596	Pan	http://purl.obolibrary.org/obo/NCBITaxon_207598	Homininae		
http://purl.obolibrary.org/obo/NCBITaxon_9605	Homo	http://purl.obolibrary.org/obo/NCBITaxon_207598	Homininae		
http://purl.obolibrary.org/obo/NCBITaxon_8355	Xenopus laevis	http://purl.obolibrary.org/obo/NCBITaxon_262014	Xenopus <subgenus>		
http://purl.obolibrary.org/obo/NCBITaxon_47757	Adrianichthyidae	http://purl.obolibrary.org/obo/NCBITaxon_28781	Adrianichthyoidei		
http://purl.obolibrary.org/obo/NCBITaxon_8352	Pipidae	http://purl.obolibrary.org/obo/NCBITaxon_30319	Pipoidea		
http://purl.obolibrary.org/obo/NCBITaxon_30459	Strigidae	http://purl.obolibrary.org/obo/NCBITaxon_30458	Strigiformes		
http://purl.obolibrary.org/obo/NCBITaxon_31028	Tetraodontoidei	http://purl.obolibrary.org/obo/NCBITaxon_31022	Tetraodontiformes		
http://purl.obolibrary.org/obo/NCBITaxon_32517	Tetradontoidea	http://purl.obolibrary.org/obo/NCBITaxon_31028	Tetraodontoidei		
http://purl.obolibrary.org/obo/NCBITaxon_31032	Takifugu	http://purl.obolibrary.org/obo/NCBITaxon_31031	Tetraodontidae		
http://purl.obolibrary.org/obo/NCBITaxon_31033	Takifugu rubripes	http://purl.obolibrary.org/obo/NCBITaxon_31032	Takifugu		
http://purl.obolibrary.org/obo/NCBITaxon_9779	Proboscidea <placentals>	http://purl.obolibrary.org/obo/NCBITaxon_311790	Afrotheria		
http://purl.obolibrary.org/obo/NCBITaxon_9815	Tubulidentata	http://purl.obolibrary.org/obo/NCBITaxon_311790	Afrotheria		
http://purl.obolibrary.org/obo/NCBITaxon_9479	Platyrrhini	http://purl.obolibrary.org/obo/NCBITaxon_314293	Simiiformes		
http://purl.obolibrary.org/obo/NCBITaxon_9526	Catarrhini	http://purl.obolibrary.org/obo/NCBITaxon_314293	Simiiformes		
http://purl.obolibrary.org/obo/NCBITaxon_9527	Cercopithecidae	http://purl.obolibrary.org/obo/NCBITaxon_314294	Cercopithecoidea		
http://purl.obolibrary.org/obo/NCBITaxon_9604	Hominidae	http://purl.obolibrary.org/obo/NCBITaxon_314295	Hominoidea		
http://purl.obolibrary.org/obo/NCBITaxon_32346	melanogaster group	http://purl.obolibrary.org/obo/NCBITaxon_32341	Sophophora		
http://purl.obolibrary.org/obo/NCBITaxon_32351	melanogaster subgroup	http://purl.obolibrary.org/obo/NCBITaxon_32346	melanogaster group		
http://purl.obolibrary.org/obo/NCBITaxon_7227	Drosophila melanogaster	http://purl.obolibrary.org/obo/NCBITaxon_32351	melanogaster subgroup		
http://purl.obolibrary.org/obo/NCBITaxon_31031	Tetraodontidae	http://purl.obolibrary.org/obo/NCBITaxon_32517	Tetradontoidea		
http://purl.obolibrary.org/obo/NCBITaxon_7933	Anguilliformes	http://purl.obolibrary.org/obo/NCBITaxon_32521	Elopomorpha		
http://purl.obolibrary.org/obo/NCBITaxon_379583	Feliformia	http://purl.obolibrary.org/obo/NCBITaxon_33554	Carnivora		
http://purl.obolibrary.org/obo/NCBITaxon_379584	Caniformia	http://purl.obolibrary.org/obo/NCBITaxon_33554	Carnivora		
http://purl.obolibrary.org/obo/NCBITaxon_8578	Colubridae	http://purl.obolibrary.org/obo/NCBITaxon_34989	Colubroidea		
http://purl.obolibrary.org/obo/NCBITaxon_9821	Suidae	http://purl.obolibrary.org/obo/NCBITaxon_35497	Suina		
http://purl.obolibrary.org/obo/NCBITaxon_314293	Simiiformes	http://purl.obolibrary.org/obo/NCBITaxon_376913	Haplorrhini		
http://purl.obolibrary.org/obo/NCBITaxon_38068	Atelinae	http://purl.obolibrary.org/obo/NCBITaxon_378855	Atelidae		
http://purl.obolibrary.org/obo/NCBITaxon_9681	Felidae	http://purl.obolibrary.org/obo/NCBITaxon_379583	Feliformia		
http://purl.obolibrary.org/obo/NCBITaxon_3072905	Pinnipedia	http://purl.obolibrary.org/obo/NCBITaxon_379584	Caniformia		
http://purl.obolibrary.org/obo/NCBITaxon_3072906	Musteloidea	http://purl.obolibrary.org/obo/NCBITaxon_379584	Caniformia		
http://purl.obolibrary.org/obo/NCBITaxon_9608	Canidae	http://purl.obolibrary.org/obo/NCBITaxon_379584	Caniformia		
http://purl.obolibrary.org/obo/NCBITaxon_9307	Macropodidae	http://purl.obolibrary.org/obo/NCBITaxon_38609	Diprotodontia		
http://purl.obolibrary.org/obo/NCBITaxon_41196	Neolepidoptera	http://purl.obolibrary.org/obo/NCBITaxon_41191	Glossata		
http://purl.obolibrary.org/obo/NCBITaxon_41197	Heteroneura	http://purl.obolibrary.org/obo/NCBITaxon_41196	Neolepidoptera		
http://purl.obolibrary.org/obo/NCBITaxon_37567	Ditrysia	http://purl.obolibrary.org/obo/NCBITaxon_41197	Heteroneura		
http://purl.obolibrary.org/obo/NCBITaxon_8293	Caudata	http://purl.obolibrary.org/obo/NCBITaxon_41666	Batrachia		
http://purl.obolibrary.org/obo/NCBITaxon_8342	Anura	http://purl.obolibrary.org/obo/NCBITaxon_41666	Batrachia		
http://purl.obolibrary.org/obo/NCBITaxon_7214	Drosophilidae	http://purl.obolibrary.org/obo/NCBITaxon_43746	Ephydroidea		
http://purl.obolibrary.org/obo/NCBITaxon_46877	Drosophilini	http://purl.obolibrary.org/obo/NCBITaxon_43845	Drosophilinae		
http://purl.obolibrary.org/obo/NCBITaxon_182222	Muraeninae	http://purl.obolibrary.org/obo/NCBITaxon_46660	Muraenidae		
http://purl.obolibrary.org/obo/NCBITaxon_7215	Drosophila <flies,genus>	http://purl.obolibrary.org/obo/NCBITaxon_46877	Drosophilini		
http://purl.obolibrary.org/obo/NCBITaxon_8088	Oryziinae	http://purl.obolibrary.org/obo/NCBITaxon_47757	Adrianichthyidae		
http://purl.obolibrary.org/obo/NCBITaxon_6243	Rhabditidae	http://purl.obolibrary.org/obo/NCBITaxon_55879	Rhabditoidea		
http://purl.obolibrary.org/obo/NCBITaxon_6237	Caenorhabditis	http://purl.obolibrary.org/obo/NCBITaxon_55885	Peloderinae		
http://purl.obolibrary.org/obo/NCBITaxon_9599	Pongo	http://purl.obolibrary.org/obo/NCBITaxon_607660	Ponginae		
http://purl.obolibrary.org/obo/NCBITaxon_6213	Echinococcus vogeli	http://purl.obolibrary.org/obo/NCBITaxon_6209	Echinococcus		
http://purl.obolibrary.org/obo/NCBITaxon_6211	Echinococcus multilocularis	http://purl.obolibrary.org/obo/NCBITaxon_6209	Echinococcus		
http://purl.obolibrary.org/obo/NCBITaxon_2212966	Echinococcus granulosus group	http://purl.obolibrary.org/obo/NCBITaxon_6209	Echinococcus		
http://purl.obolibrary.org/obo/NCBITaxon_6274	Spirurina	http://purl.obolibrary.org/obo/NCBITaxon_6236	Rhabditida		
http://purl.obolibrary.org/obo/NCBITaxon_6239	Caenorhabditis elegans	http://purl.obolibrary.org/obo/NCBITaxon_6237	Caenorhabditis		
http://purl.obolibrary.org/obo/NCBITaxon_55885	Peloderinae	http://purl.obolibrary.org/obo/NCBITaxon_6243	Rhabditidae		
http://purl.obolibrary.org/obo/NCBITaxon_42113	Clitellata	http://purl.obolibrary.org/obo/NCBITaxon_6340	Annelida		
http://purl.obolibrary.org/obo/NCBITaxon_6341	Polychaeta	http://purl.obolibrary.org/obo/NCBITaxon_6340	Annelida		
http://purl.obolibrary.org/obo/NCBITaxon_105389	Sedentaria	http://purl.obolibrary.org/obo/NCBITaxon_6341	Polychaeta		
http://purl.obolibrary.org/obo/NCBITaxon_41324	Siboglinidae	http://purl.obolibrary.org/obo/NCBITaxon_6362	Sabellida		
http://purl.obolibrary.org/obo/NCBITaxon_41191	Glossata	http://purl.obolibrary.org/obo/NCBITaxon_7088	Lepidoptera		
http://purl.obolibrary.org/obo/NCBITaxon_43845	Drosophilinae	http://purl.obolibrary.org/obo/NCBITaxon_7214	Drosophilidae		
http://purl.obolibrary.org/obo/NCBITaxon_32341	Sophophora	http://purl.obolibrary.org/obo/NCBITaxon_7215	Drosophila <flies,genus>		
http://purl.obolibrary.org/obo/NCBITaxon_28781	Adrianichthyoidei	http://purl.obolibrary.org/obo/NCBITaxon_76071	Beloniformes		
http://purl.obolibrary.org/obo/NCBITaxon_7762	Myxinidae	http://purl.obolibrary.org/obo/NCBITaxon_7761	Myxiniformes		
http://purl.obolibrary.org/obo/NCBITaxon_7778	Elasmobranchii	http://purl.obolibrary.org/obo/NCBITaxon_7777	Chondrichthyes		
http://purl.obolibrary.org/obo/NCBITaxon_7863	Holocephali	http://purl.obolibrary.org/obo/NCBITaxon_7777	Chondrichthyes		
http://purl.obolibrary.org/obo/NCBITaxon_7864	Chimaeriformes	http://purl.obolibrary.org/obo/NCBITaxon_7863	Holocephali		
http://purl.obolibrary.org/obo/NCBITaxon_46660	Muraenidae	http://purl.obolibrary.org/obo/NCBITaxon_7933	Anguilliformes		
http://purl.obolibrary.org/obo/NCBITaxon_8089	Oryzias	http://purl.obolibrary.org/obo/NCBITaxon_8088	Oryziinae		
http://purl.obolibrary.org/obo/NCBITaxon_8090	Oryzias latipes	http://purl.obolibrary.org/obo/NCBITaxon_8089	Oryzias		
http://purl.obolibrary.org/obo/NCBITaxon_41666	Batrachia	http://purl.obolibrary.org/obo/NCBITaxon_8292	Amphibia		
http://purl.obolibrary.org/obo/NCBITaxon_30367	Salamandroidea	http://purl.obolibrary.org/obo/NCBITaxon_8293	Caudata		
http://purl.obolibrary.org/obo/NCBITaxon_30319	Pipoidea	http://purl.obolibrary.org/obo/NCBITaxon_8342	Anura		
http://purl.obolibrary.org/obo/NCBITaxon_8360	Xenopodinae	http://purl.obolibrary.org/obo/NCBITaxon_8352	Pipidae		
http://purl.obolibrary.org/obo/NCBITaxon_8353	Xenopus <genus>	http://purl.obolibrary.org/obo/NCBITaxon_8360	Xenopodinae		
http://purl.obolibrary.org/obo/NCBITaxon_8505	Sphenodontia	http://purl.obolibrary.org/obo/NCBITaxon_8504	Lepidosauria		
http://purl.obolibrary.org/obo/NCBITaxon_8509	Squamata	http://purl.obolibrary.org/obo/NCBITaxon_8504	Lepidosauria		
http://purl.obolibrary.org/obo/NCBITaxon_8506	Sphenodontidae	http://purl.obolibrary.org/obo/NCBITaxon_8505	Sphenodontia		
http://purl.obolibrary.org/obo/NCBITaxon_8507	Sphenodon	http://purl.obolibrary.org/obo/NCBITaxon_8506	Sphenodontidae		
http://purl.obolibrary.org/obo/NCBITaxon_1329961	Bifurcata	http://purl.obolibrary.org/obo/NCBITaxon_8509	Squamata		
http://purl.obolibrary.org/obo/NCBITaxon_7088	Lepidoptera	http://purl.obolibrary.org/obo/NCBITaxon_85604	Amphiesmenoptera		
http://purl.obolibrary.org/obo/NCBITaxon_169863	Colubrinae	http://purl.obolibrary.org/obo/NCBITaxon_8578	Colubridae		
http://purl.obolibrary.org/obo/NCBITaxon_8830	Anatidae	http://purl.obolibrary.org/obo/NCBITaxon_8826	Anseriformes		
http://purl.obolibrary.org/obo/NCBITaxon_9255	Monotremata	http://purl.obolibrary.org/obo/NCBITaxon_9254	Prototheria		
http://purl.obolibrary.org/obo/NCBITaxon_9256	Ornithorhynchidae	http://purl.obolibrary.org/obo/NCBITaxon_9255	Monotremata		
http://purl.obolibrary.org/obo/NCBITaxon_9259	Tachyglossidae	http://purl.obolibrary.org/obo/NCBITaxon_9255	Monotremata		
http://purl.obolibrary.org/obo/NCBITaxon_9257	Ornithorhynchus	http://purl.obolibrary.org/obo/NCBITaxon_9256	Ornithorhynchidae		
http://purl.obolibrary.org/obo/NCBITaxon_38609	Diprotodontia	http://purl.obolibrary.org/obo/NCBITaxon_9263	Metatheria		
http://purl.obolibrary.org/obo/NCBITaxon_9312	Macropus	http://purl.obolibrary.org/obo/NCBITaxon_9307	Macropodidae		
http://purl.obolibrary.org/obo/NCBITaxon_948951	Cingulata	http://purl.obolibrary.org/obo/NCBITaxon_9348	Xenarthra		
http://purl.obolibrary.org/obo/NCBITaxon_9363	Erinaceidae	http://purl.obolibrary.org/obo/NCBITaxon_9362	Eulipotyphla		
http://purl.obolibrary.org/obo/NCBITaxon_376913	Haplorrhini	http://purl.obolibrary.org/obo/NCBITaxon_9443	Primates		
http://purl.obolibrary.org/obo/NCBITaxon_378855	Atelidae	http://purl.obolibrary.org/obo/NCBITaxon_9479	Platyrrhini		
http://purl.obolibrary.org/obo/NCBITaxon_9498	Cebidae	http://purl.obolibrary.org/obo/NCBITaxon_9479	Platyrrhini		
http://purl.obolibrary.org/obo/NCBITaxon_9359	Dasypodidae	http://purl.obolibrary.org/obo/NCBITaxon_948951	Cingulata		
http://purl.obolibrary.org/obo/NCBITaxon_314294	Cercopithecoidea	http://purl.obolibrary.org/obo/NCBITaxon_9526	Catarrhini		
http://purl.obolibrary.org/obo/NCBITaxon_314295	Hominoidea	http://purl.obolibrary.org/obo/NCBITaxon_9526	Catarrhini		
http://purl.obolibrary.org/obo/NCBITaxon_9528	Cercopithecinae	http://purl.obolibrary.org/obo/NCBITaxon_9527	Cercopithecidae		
http://purl.obolibrary.org/obo/NCBITaxon_9569	Colobinae	http://purl.obolibrary.org/obo/NCBITaxon_9527	Cercopithecidae		
http://purl.obolibrary.org/obo/NCBITaxon_9539	Macaca	http://purl.obolibrary.org/obo/NCBITaxon_9528	Cercopithecinae		
http://purl.obolibrary.org/obo/NCBITaxon_9554	Papio	http://purl.obolibrary.org/obo/NCBITaxon_9528	Cercopithecinae		
http://purl.obolibrary.org/obo/NCBITaxon_9541	Macaca fascicularis	http://purl.obolibrary.org/obo/NCBITaxon_9539	Macaca		
http://purl.obolibrary.org/obo/NCBITaxon_9544	Macaca mulatta	http://purl.obolibrary.org/obo/NCBITaxon_9539	Macaca		
http://purl.obolibrary.org/obo/NCBITaxon_9542	Macaca fuscata	http://purl.obolibrary.org/obo/NCBITaxon_9539	Macaca		
http://purl.obolibrary.org/obo/NCBITaxon_9593	Gorilla gorilla	http://purl.obolibrary.org/obo/NCBITaxon_9592	Gorilla		
http://purl.obolibrary.org/obo/NCBITaxon_9595	Gorilla gorilla gorilla	http://purl.obolibrary.org/obo/NCBITaxon_9593	Gorilla gorilla		
http://purl.obolibrary.org/obo/NCBITaxon_9598	Pan troglodytes	http://purl.obolibrary.org/obo/NCBITaxon_9596	Pan		
http://purl.obolibrary.org/obo/NCBITaxon_207598	Homininae	http://purl.obolibrary.org/obo/NCBITaxon_9604	Hominidae		
http://purl.obolibrary.org/obo/NCBITaxon_607660	Ponginae	http://purl.obolibrary.org/obo/NCBITaxon_9604	Hominidae		
http://purl.obolibrary.org/obo/NCBITaxon_9606	Homo sapiens	http://purl.obolibrary.org/obo/NCBITaxon_9605	Homo		
http://purl.obolibrary.org/obo/NCBITaxon_9621	Lycaon	http://purl.obolibrary.org/obo/NCBITaxon_9608	Canidae		
http://purl.obolibrary.org/obo/NCBITaxon_68727	Chrysocyon	http://purl.obolibrary.org/obo/NCBITaxon_9608	Canidae		
http://purl.obolibrary.org/obo/NCBITaxon_55039	Urocyon	http://purl.obolibrary.org/obo/NCBITaxon_9608	Canidae		
http://purl.obolibrary.org/obo/NCBITaxon_34879	Nyctereutes	http://purl.obolibrary.org/obo/NCBITaxon_9608	Canidae		
http://purl.obolibrary.org/obo/NCBITaxon_9611	Canis	http://purl.obolibrary.org/obo/NCBITaxon_9608	Canidae		
http://purl.obolibrary.org/obo/NCBITaxon_338152	Felinae	http://purl.obolibrary.org/obo/NCBITaxon_9681	Felidae		
http://purl.obolibrary.org/obo/NCBITaxon_9722	Odontoceti	http://purl.obolibrary.org/obo/NCBITaxon_9721	Cetacea		
http://purl.obolibrary.org/obo/NCBITaxon_9761	Mysticeti	http://purl.obolibrary.org/obo/NCBITaxon_9721	Cetacea		
http://purl.obolibrary.org/obo/NCBITaxon_9726	Delphinidae	http://purl.obolibrary.org/obo/NCBITaxon_9722	Odontoceti		
http://purl.obolibrary.org/obo/NCBITaxon_9765	Balaenopteridae	http://purl.obolibrary.org/obo/NCBITaxon_9761	Mysticeti		
http://purl.obolibrary.org/obo/NCBITaxon_9772	Megaptera	http://purl.obolibrary.org/obo/NCBITaxon_9765	Balaenopteridae		
http://purl.obolibrary.org/obo/NCBITaxon_9803	Rhinocerotidae	http://purl.obolibrary.org/obo/NCBITaxon_9787	Perissodactyla		
http://purl.obolibrary.org/obo/NCBITaxon_9788	Equidae	http://purl.obolibrary.org/obo/NCBITaxon_9787	Perissodactyla		
http://purl.obolibrary.org/obo/NCBITaxon_9789	Equus	http://purl.obolibrary.org/obo/NCBITaxon_9788	Equidae		
http://purl.obolibrary.org/obo/NCBITaxon_9816	Orycteropodidae	http://purl.obolibrary.org/obo/NCBITaxon_9815	Tubulidentata		
http://purl.obolibrary.org/obo/NCBITaxon_9822	Sus	http://purl.obolibrary.org/obo/NCBITaxon_9821	Suidae		
http://purl.obolibrary.org/obo/NCBITaxon_9823	Sus scrofa	http://purl.obolibrary.org/obo/NCBITaxon_9822	Sus		
http://purl.obolibrary.org/obo/NCBITaxon_9835	Camelidae	http://purl.obolibrary.org/obo/NCBITaxon_9834	Tylopoda		
http://purl.obolibrary.org/obo/NCBITaxon_9839	Lama	http://purl.obolibrary.org/obo/NCBITaxon_9835	Camelidae		
http://purl.obolibrary.org/obo/NCBITaxon_30539	Vicugna	http://purl.obolibrary.org/obo/NCBITaxon_9835	Camelidae		
http://purl.obolibrary.org/obo/NCBITaxon_9836	Camelus	http://purl.obolibrary.org/obo/NCBITaxon_9835	Camelidae		
http://purl.obolibrary.org/obo/NCBITaxon_9838	Camelus dromedarius	http://purl.obolibrary.org/obo/NCBITaxon_9836	Camelus		
http://purl.obolibrary.org/obo/NCBITaxon_9979	Leporidae	http://purl.obolibrary.org/obo/NCBITaxon_9975	Lagomorpha		
http://purl.obolibrary.org/obo/UBERON_0001351	lacrimal sac	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0001560	neck of organ	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0001848	auricular cartilage	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0003688	omentum	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0004914	duodenal papilla	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0005913	zone of bone organ	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0009882	anal column	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0010188	protuberance	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0035606	cartilage of external acoustic meatus	http://purl.obolibrary.org/obo/UBERON_0034944	zone of organ		
http://purl.obolibrary.org/obo/UBERON_0034979	nonchromaffin paraganglion	http://purl.obolibrary.org/obo/UBERON_0034978	paraganglion (generic)		
http://purl.obolibrary.org/obo/UBERON_0003324	mesenchyme of lower jaw	http://purl.obolibrary.org/obo/UBERON_0034995	jaw mesenchyme		
http://purl.obolibrary.org/obo/UBERON_0006542	outer medulla outer stripe loop of Henle	http://purl.obolibrary.org/obo/UBERON_0034996	outer renal medulla loop of Henle		
http://purl.obolibrary.org/obo/UBERON_0003455	inner renal medulla loop of Henle	http://purl.obolibrary.org/obo/UBERON_0034997	renal medulla loop of Henle		
http://purl.obolibrary.org/obo/UBERON_0034996	outer renal medulla loop of Henle	http://purl.obolibrary.org/obo/UBERON_0034997	renal medulla loop of Henle		
http://purl.obolibrary.org/obo/UBERON_0003844	upper eyelid epithelium	http://purl.obolibrary.org/obo/UBERON_0035034	eyelid epithelium		
http://purl.obolibrary.org/obo/UBERON_0003845	lower eyelid epithelium	http://purl.obolibrary.org/obo/UBERON_0035034	eyelid epithelium		
http://purl.obolibrary.org/obo/UBERON_0003235	epithelium of upper jaw	http://purl.obolibrary.org/obo/UBERON_0035037	jaw epithelium		
http://purl.obolibrary.org/obo/UBERON_0003236	epithelium of lower jaw	http://purl.obolibrary.org/obo/UBERON_0035037	jaw epithelium		
http://purl.obolibrary.org/obo/UBERON_0035048	parotid gland excretory duct	http://purl.obolibrary.org/obo/UBERON_0035049	excretory duct of salivary gland		
http://purl.obolibrary.org/obo/UBERON_0014716	interlobular duct	http://purl.obolibrary.org/obo/UBERON_0035050	excretory duct		
http://purl.obolibrary.org/obo/UBERON_0014720	interlobar duct	http://purl.obolibrary.org/obo/UBERON_0035050	excretory duct		
http://purl.obolibrary.org/obo/UBERON_0002183	lobar bronchus	http://purl.obolibrary.org/obo/UBERON_0035767	intrapulmonary bronchus		
http://purl.obolibrary.org/obo/UBERON_0002184	segmental bronchus	http://purl.obolibrary.org/obo/UBERON_0035767	intrapulmonary bronchus		
http://purl.obolibrary.org/obo/UBERON_0001179	peritoneal cavity	http://purl.obolibrary.org/obo/UBERON_0035809	serous cavity		
http://purl.obolibrary.org/obo/UBERON_0002402	pleural cavity	http://purl.obolibrary.org/obo/UBERON_0035809	serous cavity		
http://purl.obolibrary.org/obo/FOODON_03400644	a.  primary food commodities of plant origin (ccpr)	http://purl.obolibrary.org/obo/FOODON_03400643	Codex Alimentarius classification of food and feed commodities		
http://purl.obolibrary.org/obo/FOODON_03400306	nut or seed product (us cfr)	http://purl.obolibrary.org/obo/FOODON_03401270	U.S. code of federal regulations, title 21 food product type		
http://purl.obolibrary.org/obo/FOODON_03460141	food modification process	http://purl.obolibrary.org/obo/FOODON_03460111	food treatment process		
http://purl.obolibrary.org/obo/FOODON_03460225	food component addition process	http://purl.obolibrary.org/obo/FOODON_03460111	food treatment process		
http://purl.obolibrary.org/obo/FOODON_03510021	animal as food consumer	http://purl.obolibrary.org/obo/FOODON_03510136	food consumer group		
http://purl.obolibrary.org/obo/HP_0011675	Arrhythmia	http://purl.obolibrary.org/obo/HP_0030956	Abnormality of cardiovascular system electrophysiology		
http://purl.obolibrary.org/obo/NCBITaxon_11572	Orthobunyavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980416	Peribunyaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_11584	Phlebovirus	http://purl.obolibrary.org/obo/NCBITaxon_1980418	Phenuiviridae		
http://purl.obolibrary.org/obo/NCBITaxon_1891762	Betapolyomavirus hominis	http://purl.obolibrary.org/obo/NCBITaxon_1891714	Betapolyomavirus		
http://purl.obolibrary.org/obo/NCBITaxon_9483	Callithrix jacchus	http://purl.obolibrary.org/obo/NCBITaxon_1965096	Callithrix <subgenus>		
http://purl.obolibrary.org/obo/HP_0030370	Abnormal naive B cell proportion	http://purl.obolibrary.org/obo/HP_0025539	Abnormal B cell subset distribution		
http://purl.obolibrary.org/obo/HP_0030373	Abnormal memory B cell proportion	http://purl.obolibrary.org/obo/HP_0025539	Abnormal B cell subset distribution		
http://purl.obolibrary.org/obo/HP_0030376	Abnormal immature B cell proportion	http://purl.obolibrary.org/obo/HP_0025539	Abnormal B cell subset distribution		
http://purl.obolibrary.org/obo/HP_0030379	Abnormal transitional B cell proportion	http://purl.obolibrary.org/obo/HP_0025539	Abnormal B cell subset distribution		
http://purl.obolibrary.org/obo/HP_0032127	Abnormal plasmablast proportion	http://purl.obolibrary.org/obo/HP_0025539	Abnormal B cell subset distribution		
http://purl.obolibrary.org/obo/UBERON_0005204	larynx submucosa gland	http://purl.obolibrary.org/obo/UBERON_0036225	respiratory system gland		
http://purl.obolibrary.org/obo/NCIT_C50995	Disease Response	http://purl.obolibrary.org/obo/NCIT_C35461	Clinical Course of Disease		
http://purl.obolibrary.org/obo/NCIT_C36104	Aggressive Clinical Course	http://purl.obolibrary.org/obo/NCIT_C35461	Clinical Course of Disease		
http://purl.obolibrary.org/obo/NCIT_C35920	Cribriform Pattern	http://purl.obolibrary.org/obo/NCIT_C35886	Morphologic Architectural Pattern		
http://purl.obolibrary.org/obo/NCIT_C147564	Hormone Resistance	http://purl.obolibrary.org/obo/NCIT_C36285	Endocrine System Finding		
http://purl.obolibrary.org/obo/NCIT_C45981	Presence of a Hormonal Syndrome	http://purl.obolibrary.org/obo/NCIT_C36285	Endocrine System Finding		
http://purl.obolibrary.org/obo/NCIT_C45980	Absence of a Hormonal Syndrome	http://purl.obolibrary.org/obo/NCIT_C36285	Endocrine System Finding		
http://purl.obolibrary.org/obo/NCIT_C83490	Histopathology Result	http://purl.obolibrary.org/obo/NCIT_C125581	Pathology Result		
http://purl.obolibrary.org/obo/NCIT_C19085	Sexual Transmission	http://purl.obolibrary.org/obo/NCIT_C17214	Disease Transmission		
http://purl.obolibrary.org/obo/NCIT_C16273	Alcohol Consumption	http://purl.obolibrary.org/obo/NCIT_C19683	Personal Behavior		
http://purl.obolibrary.org/obo/NCIT_C17214	Disease Transmission	http://purl.obolibrary.org/obo/NCIT_C18264	Pathogenesis		
http://purl.obolibrary.org/obo/NCIT_C25193	Occupation	http://purl.obolibrary.org/obo/NCIT_C19160	Occupation or Discipline		
http://purl.obolibrary.org/obo/GO_0003700	DNA-binding transcription factor activity	http://purl.obolibrary.org/obo/GO_0140110	transcription regulator activity		
http://purl.obolibrary.org/obo/GO_0034246	mitochondrial transcription factor activity	http://purl.obolibrary.org/obo/GO_0140110	transcription regulator activity		
http://purl.obolibrary.org/obo/GO_1904115	axon cytoplasm	http://purl.obolibrary.org/obo/GO_0120111	neuron projection cytoplasm		
http://purl.obolibrary.org/obo/GO_0032839	dendrite cytoplasm	http://purl.obolibrary.org/obo/GO_0120111	neuron projection cytoplasm		
http://purl.obolibrary.org/obo/MONDO_0007529	elastosis perforans serpiginosa	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0008339	antecubital pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0979325	annular erythema of infancy	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0019294	mixed dermis disorder	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0016376	confetti-like macular atrophy	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0016442	elastoma	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0016449	mid-dermal elastolysis	http://purl.obolibrary.org/obo/MONDO_0021154	dermis disorder		
http://purl.obolibrary.org/obo/MONDO_0010245	X-linked cone-rod dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0021155	X-linked cone-rod dystrophy		
http://purl.obolibrary.org/obo/MONDO_0018628	HIV-associated cancer	http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor		
http://purl.obolibrary.org/obo/HP_0002105	Hemoptysis	http://purl.obolibrary.org/obo/HP_0032016	Abnormal sputum		
http://purl.obolibrary.org/obo/HP_0001880	Increased total eosinophil count	http://purl.obolibrary.org/obo/HP_0020064	Abnormal total eosinophil count		
http://purl.obolibrary.org/obo/HP_0031891	Decreased total eosinophil count	http://purl.obolibrary.org/obo/HP_0020064	Abnormal total eosinophil count		
http://purl.obolibrary.org/obo/HP_0002719	Recurrent infections	http://purl.obolibrary.org/obo/HP_0032101	Unusual infection		
http://purl.obolibrary.org/obo/HP_0100806	Sepsis	http://purl.obolibrary.org/obo/HP_0032101	Unusual infection		
http://purl.obolibrary.org/obo/HP_0003593	Infantile onset	http://purl.obolibrary.org/obo/HP_0410280	Pediatric onset		
http://purl.obolibrary.org/obo/HP_0003621	Juvenile onset	http://purl.obolibrary.org/obo/HP_0410280	Pediatric onset		
http://purl.obolibrary.org/obo/HP_0011463	Childhood onset	http://purl.obolibrary.org/obo/HP_0410280	Pediatric onset		
http://purl.obolibrary.org/obo/HP_0000093	Proteinuria	http://purl.obolibrary.org/obo/HP_0020129	Abnormal urine protein level		
http://purl.obolibrary.org/obo/MAXO_0000002	therapeutic procedure	http://purl.obolibrary.org/obo/MAXO_0000001	medical action		
http://purl.obolibrary.org/obo/MAXO_0000312	respiratory tract agent therapy	http://purl.obolibrary.org/obo/MAXO_0000058	pharmacotherapy		
http://purl.obolibrary.org/obo/MAXO_0000439	selective serotonin reuptake inhibitor therapy	http://purl.obolibrary.org/obo/MAXO_0001336	neurotransmitter agent therapy		
http://purl.obolibrary.org/obo/MAXO_0000171	antidementia agent therapy	http://purl.obolibrary.org/obo/MAXO_0000260	central nervous system agent therapy		
http://purl.obolibrary.org/obo/MAXO_0000437	ADHD agent therapy	http://purl.obolibrary.org/obo/MAXO_0000260	central nervous system agent therapy		
http://purl.obolibrary.org/obo/MAXO_0000300	inflammatory bowel disease agent therapy	http://purl.obolibrary.org/obo/MAXO_0000267	gastrointestinal agent therapy		
http://purl.obolibrary.org/obo/HP_0032894	Seizure precipitated by febrile infection	http://purl.obolibrary.org/obo/HP_0032892	Infection-related seizure		
http://purl.obolibrary.org/obo/MONDO_0859238	hypoalphalipoproteinemia, primary, 2, intermediate	http://purl.obolibrary.org/obo/MONDO_0032766	hypoalphalipoproteinemia, primary, 2		
http://purl.obolibrary.org/obo/MONDO_0036217	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0032931	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal		
http://purl.obolibrary.org/obo/MONDO_0036218	lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster	http://purl.obolibrary.org/obo/MONDO_0032931	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal		
http://purl.obolibrary.org/obo/HP_0004571	Widening of cervical spinal canal	http://purl.obolibrary.org/obo/HP_0046508	Abnormal cervical spine morphology		
http://purl.obolibrary.org/obo/HP_0008469	Cervical vertebral dysplasia	http://purl.obolibrary.org/obo/HP_0046508	Abnormal cervical spine morphology		
http://purl.obolibrary.org/obo/CL_0009053	stromal cell of anorectum lamina propria	http://purl.obolibrary.org/obo/CL_0009021	stromal cell of lamina propria of large intestine		
http://purl.obolibrary.org/obo/CL_0009035	stromal cell of lamina propria of vermiform appendix	http://purl.obolibrary.org/obo/CL_0009021	stromal cell of lamina propria of large intestine		
http://purl.obolibrary.org/obo/CL_0009040	stromal cell of lamina propria of colon	http://purl.obolibrary.org/obo/CL_0009021	stromal cell of lamina propria of large intestine		
http://purl.obolibrary.org/obo/UBERON_0001982	capillary	http://purl.obolibrary.org/obo/UBERON_8410081	blood microvessel		
http://purl.obolibrary.org/obo/MONDO_0012139	macular dystrophy, retinal, 3	http://purl.obolibrary.org/obo/MONDO_0031166	macular dystrophy, retinal		
http://purl.obolibrary.org/obo/MONDO_0859568	macular dystrophy, retinal, 4	http://purl.obolibrary.org/obo/MONDO_0031166	macular dystrophy, retinal		
http://purl.obolibrary.org/obo/MONDO_0859572	cardiac valvular dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0031323	cardiac valvular defect		
http://purl.obolibrary.org/obo/MONDO_0859763	mosaic neurofibromatosis type 1	http://purl.obolibrary.org/obo/MONDO_0859008	mosaic neurofibromatosis/schwannomatosis		
http://purl.obolibrary.org/obo/MONDO_0859764	mosaic NF2-related schwannomatosis	http://purl.obolibrary.org/obo/MONDO_0859008	mosaic neurofibromatosis/schwannomatosis		
http://purl.obolibrary.org/obo/MONDO_0859765	mosaic schwannomatosis	http://purl.obolibrary.org/obo/MONDO_0859008	mosaic neurofibromatosis/schwannomatosis		
http://purl.obolibrary.org/obo/GO_0007249	canonical NF-kappaB signal transduction	http://purl.obolibrary.org/obo/GO_0141124	intracellular signaling cassette		
http://purl.obolibrary.org/obo/GO_0007264	small GTPase-mediated signal transduction	http://purl.obolibrary.org/obo/GO_0141124	intracellular signaling cassette		
http://purl.obolibrary.org/obo/MONDO_0958332	neuromuscular disorder, congenital, with dysmorphic facies	http://purl.obolibrary.org/obo/MONDO_0100546	hereditary neuromuscular disease		
http://purl.obolibrary.org/obo/MONDO_0013496	IgA nephropathy, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0100555	IgA nephropathy, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0859257	intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	http://purl.obolibrary.org/obo/MONDO_0971063	autosomal dominant dopa-responsive dystonia		
http://purl.obolibrary.org/obo/NCBITaxon_1783270	FCB group	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_1783257	PVC group	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_1224	Pseudomonadota	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_203691	Spirochaetota	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_29547	Campylobacterota	http://purl.obolibrary.org/obo/NCBITaxon_3379134	Pseudomonadati		
http://purl.obolibrary.org/obo/NCBITaxon_573	Klebsiella pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_3390273	Klebsiella pneumoniae complex		
http://purl.obolibrary.org/obo/NCBITaxon_42595	Stethaprioninae	http://purl.obolibrary.org/obo/NCBITaxon_3391093	Acestrorhamphidae		
http://purl.obolibrary.org/obo/NCBITaxon_3391113	Acestrorhamphinae	http://purl.obolibrary.org/obo/NCBITaxon_3391093	Acestrorhamphidae		
http://purl.obolibrary.org/obo/MONDO_0030854	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	http://purl.obolibrary.org/obo/MONDO_0016470	Ehlers-Danlos/osteogenesis imperfecta syndrome		
http://purl.obolibrary.org/obo/MONDO_0014551	short stature with nonspecific skeletal abnormalities 1	http://purl.obolibrary.org/obo/MONDO_0975810	short stature with nonspecific skeletal abnormalities		
http://purl.obolibrary.org/obo/MONDO_0030727	developmental and epileptic encephalopathy 101	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/ENVO_00000100	valley	http://purl.obolibrary.org/obo/ENVO_03000015	geographic basin		
http://purl.obolibrary.org/obo/GO_1904170	regulation of bleb assembly	http://purl.obolibrary.org/obo/GO_0120032	regulation of plasma membrane bounded cell projection assembly		
http://purl.obolibrary.org/obo/MONDO_0020539	extragonadal non-dysgerminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0018201	extragonadal germ cell tumor		
http://purl.obolibrary.org/obo/HP_0500035	Nasolacrimal sac granuloma	http://purl.obolibrary.org/obo/HP_0500034	Nasolacrimal sac obstruction		
http://purl.obolibrary.org/obo/MONDO_0037256	serous neoplasm	http://purl.obolibrary.org/obo/MONDO_0024276	glandular cell neoplasm		
http://purl.obolibrary.org/obo/HP_0009830	Peripheral neuropathy	http://purl.obolibrary.org/obo/HP_0032120	Abnormal peripheral nervous system physiology		
http://purl.obolibrary.org/obo/HP_0031691	Severe viral infection	http://purl.obolibrary.org/obo/HP_0032169	Severe infection		
http://purl.obolibrary.org/obo/HP_0012416	Hypercapnia	http://purl.obolibrary.org/obo/HP_0500164	Abnormal blood carbon dioxide level		
http://purl.obolibrary.org/obo/HP_0012417	Hypocapnia	http://purl.obolibrary.org/obo/HP_0500164	Abnormal blood carbon dioxide level		
http://purl.obolibrary.org/obo/HP_0012418	Hypoxemia	http://purl.obolibrary.org/obo/HP_0500165	Abnormal blood oxygen level		
http://purl.obolibrary.org/obo/HP_0012419	Hyperoxemia	http://purl.obolibrary.org/obo/HP_0500165	Abnormal blood oxygen level		
http://purl.obolibrary.org/obo/NCBITaxon_6210	Echinococcus granulosus	http://purl.obolibrary.org/obo/NCBITaxon_2212966	Echinococcus granulosus group		
http://purl.obolibrary.org/obo/HP_0003111	Abnormal blood ion concentration	http://purl.obolibrary.org/obo/HP_0032180	Abnormal circulating metabolite concentration		
http://purl.obolibrary.org/obo/HP_0010876	Abnormal circulating protein concentration	http://purl.obolibrary.org/obo/HP_0032180	Abnormal circulating metabolite concentration		
http://purl.obolibrary.org/obo/HP_0010968	Abnormality of liposaccharide metabolism	http://purl.obolibrary.org/obo/HP_0032243	Abnormal tissue metabolite concentration		
http://purl.obolibrary.org/obo/HP_0010969	Abnormality of glycolipid metabolism	http://purl.obolibrary.org/obo/HP_0032243	Abnormal tissue metabolite concentration		
http://purl.obolibrary.org/obo/HP_0004337	Abnormality of amino acid metabolism	http://purl.obolibrary.org/obo/HP_0032245	Abnormal metabolism		
http://purl.obolibrary.org/obo/HP_0004915	Impairment of galactose metabolism	http://purl.obolibrary.org/obo/HP_0032245	Abnormal metabolism		
http://purl.obolibrary.org/obo/HP_0011033	Impairment of fructose metabolism	http://purl.obolibrary.org/obo/HP_0032245	Abnormal metabolism		
http://purl.obolibrary.org/obo/HP_0012345	Abnormal glycosylation	http://purl.obolibrary.org/obo/HP_0032245	Abnormal metabolism		
http://purl.obolibrary.org/obo/HP_0100508	Abnormality of vitamin metabolism	http://purl.obolibrary.org/obo/HP_0032245	Abnormal metabolism		
http://purl.obolibrary.org/obo/NCBITaxon_1319	Streptococcus sp. 'group B'	http://purl.obolibrary.org/obo/NCBITaxon_2608887	unclassified Streptococcus		
http://purl.obolibrary.org/obo/NCBITaxon_11118	Coronaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2499399	Cornidovirineae		
http://purl.obolibrary.org/obo/NCBITaxon_11040	Rubivirus	http://purl.obolibrary.org/obo/NCBITaxon_2560066	Matonaviridae		
http://purl.obolibrary.org/obo/NCBITaxon_12967	Blastocystis	http://purl.obolibrary.org/obo/NCBITaxon_2547934	Blastocystidae		
http://purl.obolibrary.org/obo/CL_0011016	flagellated sperm cell	http://purl.obolibrary.org/obo/CL_0011013	motile sperm cell		
http://purl.obolibrary.org/obo/MONDO_0020751	orthostatic hypotension 2	http://purl.obolibrary.org/obo/MONDO_0021272	inherited orthostatic hypotension		
http://purl.obolibrary.org/obo/MONDO_0035293	streptococcus pneumoniae-associated hemolytic uremic syndrome	http://purl.obolibrary.org/obo/MONDO_0034103	infection-related hemolytic uremic syndrome		
http://purl.obolibrary.org/obo/HP_0032622	Tubular luminal dilatation	http://purl.obolibrary.org/obo/HP_0032950	Abnormal renal tubular lumen morphology		
http://purl.obolibrary.org/obo/HP_0006517	Intraalveolar phospholipid accumulation	http://purl.obolibrary.org/obo/HP_0032973	Abnormal bronchoalveolar lavage fluid morphology		
http://purl.obolibrary.org/obo/UBERON_8410036	medullary venule of lymph node	http://purl.obolibrary.org/obo/UBERON_8410041	venule of lymph node		
http://purl.obolibrary.org/obo/UBERON_8410035	medullary arteriole of lymph node	http://purl.obolibrary.org/obo/UBERON_8410042	arteriole of lymph node		
http://purl.obolibrary.org/obo/PATO_0070006	cortical bipolar morphology	http://purl.obolibrary.org/obo/PATO_0070027	bitufted dendrite cell morphology		
http://purl.obolibrary.org/obo/GO_0140537	transcription regulator activator activity	http://purl.obolibrary.org/obo/GO_0140677	molecular function activator activity		
http://purl.obolibrary.org/obo/GO_0001671	ATPase activator activity	http://purl.obolibrary.org/obo/GO_0140677	molecular function activator activity		
http://purl.obolibrary.org/obo/GO_0141109	transporter activator activity	http://purl.obolibrary.org/obo/GO_0141108	transporter regulator activity		
http://purl.obolibrary.org/obo/HP_0008000	Decreased corneal reflex	http://purl.obolibrary.org/obo/HP_0034251	Abnormal corneal reflex		
http://purl.obolibrary.org/obo/HP_0007265	Absent mesencephalon	http://purl.obolibrary.org/obo/HP_0034258	Aplasia/Hypoplasia of the midbrain		
http://purl.obolibrary.org/obo/HP_0002692	Hypoplastic facial bones	http://purl.obolibrary.org/obo/HP_0034261	Aplasia/Hypoplasia of facial bones		
http://purl.obolibrary.org/obo/UBERON_0001008	renal system	http://purl.obolibrary.org/obo/UBERON_8450002	excretory system		
http://purl.obolibrary.org/obo/MONDO_0018254	spondyloepimetaphyseal dysplasia, Isidor type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0976230	spondyloepimetaphyseal dysplasia, Li-Shao-Li type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0032571	spondyloepimetaphyseal dysplasia, Krakow type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0032885	spondyloepimetaphyseal dysplasia, Isidor-Toutain type	http://purl.obolibrary.org/obo/MONDO_0100510	spondyloepimetaphyseal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0010340	Asperger syndrome, X-linked, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100440	Asperger syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0010343	Asperger syndrome, X-linked, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0100440	Asperger syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012079	asperger syndrome, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0100440	Asperger syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012082	asperger syndrome, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100440	Asperger syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012119	asperger syndrome, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0100440	Asperger syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0012377	asperger syndrome, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0100440	Asperger syndrome, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0030048	harderoporphyria	http://purl.obolibrary.org/obo/MONDO_0800180	CPOX-related hereditary coproporphyria		
http://purl.obolibrary.org/obo/MONDO_0010893	malignant hyperthermia, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0800188	malignant hyperthermia, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011164	malignant hyperthermia, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0800188	malignant hyperthermia, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0011556	basal cell carcinoma, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0100047	basal cell carcinoma, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013101	basal cell carcinoma, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0100047	basal cell carcinoma, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013102	basal cell carcinoma, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0100047	basal cell carcinoma, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013104	basal cell carcinoma, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0100047	basal cell carcinoma, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013105	basal cell carcinoma, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0100047	basal cell carcinoma, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0013106	basal cell carcinoma, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0100047	basal cell carcinoma, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0030313	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10	http://purl.obolibrary.org/obo/MONDO_0800174	encephalitis, acute, infection-induced, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0030334	encephalitis, acute, infection (viral)-induced, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0800174	encephalitis, acute, infection-induced, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0054754	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0800174	encephalitis, acute, infection-induced, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0032742	encephalopathy, acute, infection-induced, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0800174	encephalitis, acute, infection-induced, susceptibility to		
http://purl.obolibrary.org/obo/MONDO_0014998	glaucoma 3, primary congenital, E	http://purl.obolibrary.org/obo/MONDO_0020366	congenital glaucoma		
http://purl.obolibrary.org/obo/UBERON_0005298	skin of clitoris	http://purl.obolibrary.org/obo/UBERON_8480029	skin of external genitalia		
http://purl.obolibrary.org/obo/UBERON_0015479	scrotum skin	http://purl.obolibrary.org/obo/UBERON_8480029	skin of external genitalia		
http://purl.obolibrary.org/obo/GO_0016247	channel regulator activity	http://purl.obolibrary.org/obo/GO_0141108	transporter regulator activity		
http://purl.obolibrary.org/obo/GO_0097690	iron ion transmembrane transporter inhibitor activity	http://purl.obolibrary.org/obo/GO_0141110	transporter inhibitor activity		
http://purl.obolibrary.org/obo/NCBITaxon_10243	Cowpox virus	http://purl.obolibrary.org/obo/NCBITaxon_3431481	Orthopoxvirus cowpox		
http://purl.obolibrary.org/obo/NCBITaxon_10244	Monkeypox virus	http://purl.obolibrary.org/obo/NCBITaxon_3431483	Orthopoxvirus monkeypox		
http://purl.obolibrary.org/obo/NCBITaxon_10255	Variola virus	http://purl.obolibrary.org/obo/NCBITaxon_3431487	Orthopoxvirus variola		
http://purl.obolibrary.org/obo/NCBITaxon_10258	Orf virus	http://purl.obolibrary.org/obo/NCBITaxon_3431389	Parapoxvirus orf		
http://purl.obolibrary.org/obo/NCBITaxon_10279	Molluscum contagiosum virus	http://purl.obolibrary.org/obo/NCBITaxon_3430922	Molluscipoxvirus molluscum		
http://purl.obolibrary.org/obo/NCBITaxon_10407	Hepatitis B virus	http://purl.obolibrary.org/obo/NCBITaxon_3431302	Orthohepadnavirus hominoidei		
http://purl.obolibrary.org/obo/NCBITaxon_10029	Cricetulus griseus	http://purl.obolibrary.org/obo/NCBITaxon_10028	Cricetulus		
http://purl.obolibrary.org/obo/NCBITaxon_9520	Saimiri	http://purl.obolibrary.org/obo/NCBITaxon_378850	Saimiriinae		
http://purl.obolibrary.org/obo/NCBITaxon_337726	Xerinae	http://purl.obolibrary.org/obo/NCBITaxon_55153	Sciuridae		
http://purl.obolibrary.org/obo/NCBITaxon_2068716	Anatinae	http://purl.obolibrary.org/obo/NCBITaxon_8830	Anatidae		
http://purl.obolibrary.org/obo/NCBITaxon_2068722	Anserinae	http://purl.obolibrary.org/obo/NCBITaxon_8830	Anatidae		
http://purl.obolibrary.org/obo/NCBITaxon_93934	Coturnix japonica	http://purl.obolibrary.org/obo/NCBITaxon_9090	Coturnix		
http://purl.obolibrary.org/obo/NCBITaxon_1965096	Callithrix <subgenus>	http://purl.obolibrary.org/obo/NCBITaxon_9481	Callithrix <genus>		
http://purl.obolibrary.org/obo/NCBITaxon_38070	Cebinae	http://purl.obolibrary.org/obo/NCBITaxon_9498	Cebidae		
http://purl.obolibrary.org/obo/NCBITaxon_9480	Callitrichinae	http://purl.obolibrary.org/obo/NCBITaxon_9498	Cebidae		
http://purl.obolibrary.org/obo/NCBITaxon_378850	Saimiriinae	http://purl.obolibrary.org/obo/NCBITaxon_9498	Cebidae		
http://purl.obolibrary.org/obo/NCBITaxon_27679	Saimiri boliviensis	http://purl.obolibrary.org/obo/NCBITaxon_9520	Saimiri		
http://purl.obolibrary.org/obo/NCBITaxon_54132	Pygathrix	http://purl.obolibrary.org/obo/NCBITaxon_9569	Colobinae		
http://purl.obolibrary.org/obo/NCBITaxon_54136	Trachypithecus	http://purl.obolibrary.org/obo/NCBITaxon_9569	Colobinae		
http://purl.obolibrary.org/obo/NCBITaxon_9791	Equus zebra	http://purl.obolibrary.org/obo/NCBITaxon_9789	Equus		
http://purl.obolibrary.org/obo/NCBITaxon_9796	Equus caballus	http://purl.obolibrary.org/obo/NCBITaxon_9789	Equus		
http://purl.obolibrary.org/obo/NCBITaxon_9793	Equus asinus	http://purl.obolibrary.org/obo/NCBITaxon_9789	Equus		
http://purl.obolibrary.org/obo/NCBITaxon_9984	Oryctolagus	http://purl.obolibrary.org/obo/NCBITaxon_9979	Leporidae		
http://purl.obolibrary.org/obo/HP_0025457	Decreased CSF protein concentration	http://purl.obolibrary.org/obo/HP_0025456	Abnormal CSF protein concentration		
http://purl.obolibrary.org/obo/HP_0002615	Hypotension	http://purl.obolibrary.org/obo/HP_0030972	Abnormal systemic blood pressure		
http://purl.obolibrary.org/obo/HP_0032263	Increased blood pressure	http://purl.obolibrary.org/obo/HP_0030972	Abnormal systemic blood pressure		
http://purl.obolibrary.org/obo/HP_0003125	Reduced factor VIII activity	http://purl.obolibrary.org/obo/HP_0030976	Abnormal factor VIII activity		
http://purl.obolibrary.org/obo/ENVO_01001010	hydrometeor	http://purl.obolibrary.org/obo/ENVO_01001008	meteor		
http://purl.obolibrary.org/obo/ENVO_01001026	electromagnetic radiation	http://purl.obolibrary.org/obo/ENVO_01001023	radiation		
http://purl.obolibrary.org/obo/ENVO_01001501	radiation from a manufactured product	http://purl.obolibrary.org/obo/ENVO_01001026	electromagnetic radiation		
http://purl.obolibrary.org/obo/ENVO_21001215	visible spectrum radiation	http://purl.obolibrary.org/obo/ENVO_01001026	electromagnetic radiation		
http://purl.obolibrary.org/obo/ENVO_21001216	ultraviolet radiation	http://purl.obolibrary.org/obo/ENVO_01001026	electromagnetic radiation		
http://purl.obolibrary.org/obo/ENVO_01001211	stellar radiation	http://purl.obolibrary.org/obo/ENVO_01001026	electromagnetic radiation		
http://purl.obolibrary.org/obo/ENVO_01001366	aerosolised particle formation process	http://purl.obolibrary.org/obo/ENVO_01001084	particulate matter formation process		
http://purl.obolibrary.org/obo/MONDO_0012751	aortic aneurysm, familial abdominal, 3	http://purl.obolibrary.org/obo/MONDO_0007031	familial abdominal aortic aneurysm		
http://purl.obolibrary.org/obo/MONDO_0012343	aortic aneurysm, familial abdominal, 2	http://purl.obolibrary.org/obo/MONDO_0007031	familial abdominal aortic aneurysm		
http://purl.obolibrary.org/obo/MONDO_0024521	aortic aneurysm, familial abdominal, 1	http://purl.obolibrary.org/obo/MONDO_0007031	familial abdominal aortic aneurysm		
http://purl.obolibrary.org/obo/MONDO_0013716	aortic aneurysm, familial abdominal, 4	http://purl.obolibrary.org/obo/MONDO_0007031	familial abdominal aortic aneurysm		
http://purl.obolibrary.org/obo/MONDO_0023699	Maroteaux Fonfria syndrome	http://purl.obolibrary.org/obo/MONDO_0007041	Apert syndrome		
http://purl.obolibrary.org/obo/MONDO_0024507	aniridia 1	http://purl.obolibrary.org/obo/MONDO_0007119	isolated aniridia		
http://purl.obolibrary.org/obo/MONDO_0012287	Stickler syndrome, type I, nonsyndromic ocular	http://purl.obolibrary.org/obo/MONDO_0007160	Stickler syndrome type 1		
http://purl.obolibrary.org/obo/MONDO_0015008	amelogenesis imperfecta, type 1J	http://purl.obolibrary.org/obo/MONDO_0015047	amelogenesis imperfecta type 1		
http://purl.obolibrary.org/obo/MONDO_0007088	Alzheimer disease type 1	http://purl.obolibrary.org/obo/MONDO_1060190	APP-related brain and vascular amyloidosis		
http://purl.obolibrary.org/obo/MONDO_0011194	Alzheimer disease 5	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		
http://purl.obolibrary.org/obo/MONDO_0011401	Alzheimer disease without neurofibrillary tangles	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		
http://purl.obolibrary.org/obo/MONDO_0011513	Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology	http://purl.obolibrary.org/obo/MONDO_0015140	early-onset autosomal dominant Alzheimer disease		
http://purl.obolibrary.org/obo/MONDO_0015206	short stature-heart defect-craniofacial anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0017193	symptomatic form of Coffin-Lowry syndrome in female carriers	http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0009969	renal-genital-middle ear anomalies	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0016031	facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0017788	contractures - webbed neck - micrognathia - hypoplastic nipples syndrome	http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0007157	arthrogryposis, distal, type 1A	http://purl.obolibrary.org/obo/MONDO_0015240	digitotalar dysmorphism		
http://purl.obolibrary.org/obo/MONDO_0013698	arthrogryposis, distal, type 1B	http://purl.obolibrary.org/obo/MONDO_0015240	digitotalar dysmorphism		
http://purl.obolibrary.org/obo/MONDO_0009741	neuroblastoma, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0100199	diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800290	Li-fraumeni-like syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800418	breast cancer, familial, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800419	breast cancer, familial, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800420	breast cancer, familial, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800423	colorectal cancer, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800424	colorectal cancer, susceptibility to, on chromosome 15	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800433	ovarian cancer, familial, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800434	ovarian cancer, familial, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0800435	ovarian cancer, familial, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0850064	inherited hematologic cancer-predisposing syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0971170	prostate cancer, hereditary, X-linked 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0011361	prostate cancer/brain cancer susceptibility	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0011931	ovarian cancer, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012159	lung cancer susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012318	leukemia, chronic lymphocytic, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012673	colorectal cancer, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012821	colorectal cancer, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012822	colorectal cancer, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012823	colorectal cancer, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012934	leukemia, chronic lymphocytic, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012935	leukemia, chronic lymphocytic, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012936	leukemia, chronic lymphocytic, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012942	lung cancer susceptibility 3	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012951	colorectal cancer, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012952	colorectal cancer, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012954	colorectal cancer, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0012955	lung cancer susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0013084	neuroblastoma, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0013085	neuroblastoma, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0013086	neuroblastoma, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0013108	leukemia, acute lymphocytic, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0013109	leukemia, acute lymphocytic, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0980759	follicular lymphoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0700041	neuroblastoma, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0032867	pancreatic cancer, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0859008	mosaic neurofibromatosis/schwannomatosis	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0007190	leukemia, chronic lymphocytic, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0013631	lung cancer susceptibility 5	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0014281	cholangiocarcinoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0014774	neuroblastoma, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0015356	hereditary neoplastic syndrome		
http://purl.obolibrary.org/obo/MONDO_0015376	first branchial cleft anomaly	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		
http://purl.obolibrary.org/obo/MONDO_0015377	third branchial cleft anomaly	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		
http://purl.obolibrary.org/obo/MONDO_0015378	fourth branchial cleft anomaly	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		
http://purl.obolibrary.org/obo/MONDO_0015383	cervicofacial fibrochondroma	http://purl.obolibrary.org/obo/MONDO_0015476	cysts and fistulae of the face and oral cavity		
http://purl.obolibrary.org/obo/MONDO_0100490	breasts and/or nipples, aplasia or hypoplasia of, 1	http://purl.obolibrary.org/obo/MONDO_0015855	isolated congenital breast hypoplasia/aplasia		
http://purl.obolibrary.org/obo/MONDO_0008482	Sprengel deformity	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		
http://purl.obolibrary.org/obo/MONDO_0010115	thoracic dysplasia-hydrocephalus syndrome	http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation		
http://purl.obolibrary.org/obo/MONDO_0012208	congenital reticular ichthyosiform erythroderma	http://purl.obolibrary.org/obo/MONDO_0017266	keratinopathic ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0044656	epidermolytic nevus	http://purl.obolibrary.org/obo/MONDO_0017266	keratinopathic ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0979230	spastic ataxia 11, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0017846	autosomal dominant spastic ataxia		
http://purl.obolibrary.org/obo/MONDO_0975911	reticular dysgenesis-like severe combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0014334	severe combined immunodeficiency due to LCK deficiency	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0012944	chromosome 17P13.3, telomeric, duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect		
http://purl.obolibrary.org/obo/MONDO_0012537	split-hand/foot malformation with long bone deficiency 2	http://purl.obolibrary.org/obo/MONDO_0018050	tibial aplasia-ectrodactyly syndrome		
http://purl.obolibrary.org/obo/MONDO_0007332	split-hand/foot malformation with long bone deficiency 1	http://purl.obolibrary.org/obo/MONDO_0018050	tibial aplasia-ectrodactyly syndrome		
http://purl.obolibrary.org/obo/MONDO_0007327	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase	http://purl.obolibrary.org/obo/MONDO_0018637	familial chylomicronemia syndrome		
http://purl.obolibrary.org/obo/MONDO_0007871	familial congenital nasolacrimal duct obstruction	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0011921	aural atresia, congenital	http://purl.obolibrary.org/obo/MONDO_0018751	hereditary otorhinolaryngologic disease		
http://purl.obolibrary.org/obo/MONDO_0035562	acquired human prion disease	http://purl.obolibrary.org/obo/MONDO_0018926	human prion disease		
http://purl.obolibrary.org/obo/MONDO_0010722	X-linked retinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0016395	foveal hypoplasia-presenile cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0978292	retinal dystrophy, X-linked, Gardner-Hardcastle type	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0014060	progressive retinal dystrophy due to retinol transport defect	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0014195	microcornea-myopic chorioretinal atrophy	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0014483	retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	http://purl.obolibrary.org/obo/MONDO_0019118	inherited retinal dystrophy		
http://purl.obolibrary.org/obo/MONDO_0859003	PAICS deficiency	http://purl.obolibrary.org/obo/MONDO_0019236	inborn disorder of purine metabolism		
http://purl.obolibrary.org/obo/MONDO_0007756	hyperkeratosis lenticularis perstans	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		
http://purl.obolibrary.org/obo/MONDO_0018586	zinc-responsive necrolytic acral erythema	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		
http://purl.obolibrary.org/obo/MONDO_0036918	punctate acrokeratoderma freckle-like pigmentation	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		
http://purl.obolibrary.org/obo/MONDO_0016503	congenital erosive and vesicular dermatosis	http://purl.obolibrary.org/obo/MONDO_0019268	epidermal disease		
http://purl.obolibrary.org/obo/MONDO_0007867	nonsyndromic congenital nail disorder 2	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		
http://purl.obolibrary.org/obo/MONDO_0008125	nonsyndromic congenital nail disorder 5	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		
http://purl.obolibrary.org/obo/MONDO_0011595	nonsyndromic congenital nail disorder 7	http://purl.obolibrary.org/obo/MONDO_0019284	inherited isolated nail anomaly		
http://purl.obolibrary.org/obo/MONDO_0007095	ameloonychohypohidrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0018062	autosomal dominant trichoodontoonychodysplasia-syndactyly	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0011131	tricho-oculo-dermo-vertebral syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0011219	Fried's tooth and nail syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0022432	alves Castelo dos Santos syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0022611	Brunoni syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0023040	ectodermal dysplasia Bartalos type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0023042	ectodermal dysplasia margarita type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0023045	ectodermal dysplasia arthrogryposis diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0023046	ectodermal dysplasia blindness	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0023048	ectodermal dysplasia neurosensory deafness	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0100358	ectodermal dysplasia WNT10A related	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0043110	jones hersh yusk syndrome	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0044305	ectodermal dysplasia 13, hair/tooth type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0979228	ectodermal dysplasia 17 with or without limb malformations	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0032584	ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0032804	ectodermal dysplasia 15, hypohidrotic/hair type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0013973	ectodermal dysplasia 5, hair/nail type	http://purl.obolibrary.org/obo/MONDO_0019287	ectodermal dysplasia syndrome		
http://purl.obolibrary.org/obo/MONDO_0035124	linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	http://purl.obolibrary.org/obo/MONDO_0019290	hypopigmentation of the skin		
http://purl.obolibrary.org/obo/MONDO_0007651	gastrocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		
http://purl.obolibrary.org/obo/MONDO_0800357	hyperpigmentation, progressive cribriform and zosteriform	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		
http://purl.obolibrary.org/obo/MONDO_0859007	mosaic Legius syndrome	http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin		
http://purl.obolibrary.org/obo/MONDO_0016311	Bockenheimer syndrome	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		
http://purl.obolibrary.org/obo/MONDO_0958110	atrophic papulosis	http://purl.obolibrary.org/obo/MONDO_0019293	skin vascular disease		
http://purl.obolibrary.org/obo/MONDO_0018688	anti-p200 pemphigoid	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		
http://purl.obolibrary.org/obo/MONDO_0034127	IgA pemphigus	http://purl.obolibrary.org/obo/MONDO_0019337	autoimmune bullous skin disease		
http://purl.obolibrary.org/obo/MONDO_0015100	aregenerative anemia	http://purl.obolibrary.org/obo/MONDO_0019453	myelodysplastic syndrome with multilineage dysplasia		
http://purl.obolibrary.org/obo/MONDO_0011105	alacrima, congenital, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019627	isolated congenital alacrima		
http://purl.obolibrary.org/obo/MONDO_0007075	alacrima, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0019627	isolated congenital alacrima		
http://purl.obolibrary.org/obo/MONDO_0007224	brachydactyly, type E, with atrial septal defect, type 2	http://purl.obolibrary.org/obo/MONDO_0019677	brachydactyly type E		
http://purl.obolibrary.org/obo/MONDO_0031615	familial bent bone dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia		
http://purl.obolibrary.org/obo/MONDO_0016357	dysplastic cortical hyperostosis	http://purl.obolibrary.org/obo/MONDO_0019702	neonatal osteosclerotic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0008275	familial expansile osteolysis	http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis		
http://purl.obolibrary.org/obo/MONDO_0033481	spinocerebellar ataxia 46	http://purl.obolibrary.org/obo/MONDO_0019792	autosomal dominant cerebellar ataxia type I		
http://purl.obolibrary.org/obo/MONDO_0033480	spinocerebellar ataxia 45	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		
http://purl.obolibrary.org/obo/MONDO_0014776	spinocerebellar ataxia type 42	http://purl.obolibrary.org/obo/MONDO_0019793	autosomal dominant cerebellar ataxia type III		
http://purl.obolibrary.org/obo/MONDO_0012169	premature ovarian failure 3	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0800317	premature ovarian failure 4	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0957216	premature ovarian failure 21	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0970995	premature ovarian failure 24	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0030975	premature ovarian failure 20	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0044317	premature ovarian failure 13	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0044777	premature ovarian failure 14	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0030939	premature ovarian failure 18	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0030985	premature ovarian failure 19	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0976129	premature ovarian failure 26	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0032881	premature ovarian failure 16	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0975843	premature ovarian failure 25	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0014520	46,XX ovarian dysgenesis-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0030870	premature ovarian failure 17	http://purl.obolibrary.org/obo/MONDO_0019852	inherited primary ovarian failure		
http://purl.obolibrary.org/obo/MONDO_0850107	postinfectious cerebellitis	http://purl.obolibrary.org/obo/MONDO_0020010	infectious disorder of the nervous system		
http://purl.obolibrary.org/obo/MONDO_0010968	glaucoma 3, primary infantile, B	http://purl.obolibrary.org/obo/MONDO_0020366	congenital glaucoma		
http://purl.obolibrary.org/obo/MONDO_0018733	intellectual disability syndrome due to a DYRK1A point mutation	http://purl.obolibrary.org/obo/MONDO_0013578	DYRK1A-related intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0017711	pancreatic colipase deficiency	http://purl.obolibrary.org/obo/MONDO_0013700	pancreatic triacylglycerol lipase deficiency		
http://purl.obolibrary.org/obo/MONDO_0017407	deficiency in anterior pituitary function - variable immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0018762	non-acquired combined pituitary hormone deficiency		
http://purl.obolibrary.org/obo/MONDO_0016782	paternal 14q32.2 hypomethylation syndrome	http://purl.obolibrary.org/obo/MONDO_0014541	motor developmental delay due to 14q32.2 paternally expressed gene defect		
http://purl.obolibrary.org/obo/MONDO_0700391	autoinflammation and autoimmunity with immune dysregulation 1	http://purl.obolibrary.org/obo/MONDO_0014629	autoimmune interstitial lung disease-arthritis syndrome		
http://purl.obolibrary.org/obo/MONDO_0700392	autoinflammation and autoimmunity with immune dysregulation 2	http://purl.obolibrary.org/obo/MONDO_0014629	autoimmune interstitial lung disease-arthritis syndrome		
http://purl.obolibrary.org/obo/MONDO_0020787	hypomagnesemia, seizures, and intellectual disability 1	http://purl.obolibrary.org/obo/MONDO_0014631	hypomagnesemia, seizures, and intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0020788	hypomagnesemia, seizures, and intellectual disability 2	http://purl.obolibrary.org/obo/MONDO_0014631	hypomagnesemia, seizures, and intellectual disability		
http://purl.obolibrary.org/obo/MONDO_0957220	oocyte/zygote/embryo maturation arrest 17	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0957230	oocyte/zygote/embryo maturation arrest 18	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0957231	oocyte/zygote/embryo maturation arrest 19	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0957278	oocyte/zygote/embryo maturation arrest 20	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0020837	oocyte maturation defect 5	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0980964	oocyte/zygote/embryo maturation arrest 25	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0030490	oocyte maturation defect 11	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0030523	oocyte maturation defect 12	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0033564	oocyte maturation defect 8	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0033565	oocyte maturation defect 9	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0030925	oocyte maturation defect 10	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0976137	oocyte/zygote/embryo maturation arrest 22	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0979231	oocyte/zygote/embryo maturation arrest 23	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0979232	oocyte/zygote/embryo maturation arrest 24	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0032696	oocyte maturation defect 6	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0032810	oocyte maturation defect 7	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0859330	oocyte maturation defect 13	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0859521	oocyte maturation defect 14	http://purl.obolibrary.org/obo/MONDO_0014769	inherited oocyte maturation defect		
http://purl.obolibrary.org/obo/MONDO_0020778	cone-rod dystrophy and hearing loss 1	http://purl.obolibrary.org/obo/MONDO_0014980	cone-rod dystrophy and hearing loss		
http://purl.obolibrary.org/obo/MONDO_0020780	cone-rod dystrophy and hearing loss 2	http://purl.obolibrary.org/obo/MONDO_0014980	cone-rod dystrophy and hearing loss		
http://purl.obolibrary.org/obo/MONDO_0015029	reticular perineurioma	http://purl.obolibrary.org/obo/MONDO_0015031	extraneural perineurioma		
http://purl.obolibrary.org/obo/MONDO_0015030	sclerosing perineurioma	http://purl.obolibrary.org/obo/MONDO_0015031	extraneural perineurioma		
http://purl.obolibrary.org/obo/MONDO_0018742	familial gastric type 1 neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015062	gastric neuroendocrine tumor, well differentiated, low or intermediate grade		
http://purl.obolibrary.org/obo/MONDO_0019824	non-acquired pituitary hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0015514	hereditary endocrine growth disease		
http://purl.obolibrary.org/obo/MONDO_0019614	pituitary deficiency due to Rathke's pouch cysts	http://purl.obolibrary.org/obo/MONDO_0015127	pituitary deficiency		
http://purl.obolibrary.org/obo/MONDO_0019617	pituitary deficiency due to empty sella turcica syndrome	http://purl.obolibrary.org/obo/MONDO_0015127	pituitary deficiency		
http://purl.obolibrary.org/obo/MONDO_0957403	periodic fever syndrome of childhood	http://purl.obolibrary.org/obo/MONDO_0015137	periodic fever syndrome		
http://purl.obolibrary.org/obo/MONDO_0015158	unexplained periodic fever syndrome	http://purl.obolibrary.org/obo/MONDO_0015137	periodic fever syndrome		
http://purl.obolibrary.org/obo/MONDO_0018423	autosomal recessive spastic paraplegia type 71	http://purl.obolibrary.org/obo/MONDO_0015149	pure hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0014020	hereditary spastic paraplegia 55	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0018416	autosomal recessive spastic paraplegia type 59	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0018417	autosomal recessive spastic paraplegia type 60	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0018418	autosomal recessive spastic paraplegia type 66	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0018420	autosomal recessive spastic paraplegia type 68	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0018421	autosomal recessive spastic paraplegia type 69	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0030673	spastic paraplegia 86, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0030512	spastic paraplegia 85, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0014567	glutamate pyruvate transaminase 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0015150	complex hereditary spastic paraplegia		
http://purl.obolibrary.org/obo/MONDO_0017415	multiple pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0015225	arthrogryposis syndrome		
http://purl.obolibrary.org/obo/MONDO_0958123	isolated pulmonary artery sling	http://purl.obolibrary.org/obo/MONDO_0015239	abnormal origin of the pulmonary artery		
http://purl.obolibrary.org/obo/MONDO_0958128	non-transplant-related bronchiolitis obliterans	http://purl.obolibrary.org/obo/MONDO_0015265	bronchiolitis obliterans syndrome		
http://purl.obolibrary.org/obo/MONDO_0958127	transplant-related bronchiolitis obliterans	http://purl.obolibrary.org/obo/MONDO_0015265	bronchiolitis obliterans syndrome		
http://purl.obolibrary.org/obo/MONDO_0015406	cerebrofacial arteriovenous metameric syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0015405	cerebrofacial arteriovenous metameric syndrome		
http://purl.obolibrary.org/obo/MONDO_0015407	cerebrofacial arteriovenous metameric syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0015405	cerebrofacial arteriovenous metameric syndrome		
http://purl.obolibrary.org/obo/MONDO_0015416	Tessier number 5 facial cleft	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		
http://purl.obolibrary.org/obo/MONDO_0015417	Tessier number 6 facial cleft	http://purl.obolibrary.org/obo/MONDO_0015411	facial cleft		
http://purl.obolibrary.org/obo/MONDO_0017519	symbrachydactyly of hand and foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0015516	symbrachydactyly of hands and feet		
http://purl.obolibrary.org/obo/MONDO_0017520	symbrachydactyly of hand and foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0015516	symbrachydactyly of hands and feet		
http://purl.obolibrary.org/obo/MONDO_0015544	acquired hemophagocytic lymphohistiocytosis associated with malignant disease	http://purl.obolibrary.org/obo/MONDO_0015542	secondary hemophagocytic lymphohistiocytosis		
http://purl.obolibrary.org/obo/MONDO_0035838	idiopathic multicentric Castleman disease	http://purl.obolibrary.org/obo/MONDO_0015564	Castleman disease		
http://purl.obolibrary.org/obo/MONDO_0019559	hypertrophic or verrucous lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0015574	chronic cutaneous lupus erythematosus		
http://purl.obolibrary.org/obo/MONDO_0019476	primary cutaneous peripheral T-cell lymphoma not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0015758	primary cutaneous T-cell lymphoma		
http://purl.obolibrary.org/obo/MONDO_0015816	indolent primary cutaneous T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015758	primary cutaneous T-cell lymphoma		
http://purl.obolibrary.org/obo/MONDO_0017594	indolent B-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0015759	B-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0017595	aggressive B-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0015759	B-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0013992	obesity due to leptin receptor gene deficiency	http://purl.obolibrary.org/obo/MONDO_0019182	inherited obesity		
http://purl.obolibrary.org/obo/MONDO_0016556	transient congenital hypothyroidism due to neonatal factor	http://purl.obolibrary.org/obo/MONDO_0015792	transient congenital hypothyroidism		
http://purl.obolibrary.org/obo/MONDO_0018897	primary cutaneous CD30+ T-cell lymphoproliferative disease	http://purl.obolibrary.org/obo/MONDO_0015816	indolent primary cutaneous T-cell lymphoma		
http://purl.obolibrary.org/obo/MONDO_0015810	primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015816	indolent primary cutaneous T-cell lymphoma		
http://purl.obolibrary.org/obo/MONDO_0015835	Bicervical bicornuate uterus and blind hemivagina	http://purl.obolibrary.org/obo/MONDO_0015834	didelphys uterus		
http://purl.obolibrary.org/obo/MONDO_0015836	Bicervical bicornuate uterus with patent cervix and vagina	http://purl.obolibrary.org/obo/MONDO_0015834	didelphys uterus		
http://purl.obolibrary.org/obo/MONDO_0015834	didelphys uterus	http://purl.obolibrary.org/obo/MONDO_0015842	bicornuate uterus		
http://purl.obolibrary.org/obo/MONDO_0018587	non-recovering obstetric brachial plexus lesion	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0016176	axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy	http://purl.obolibrary.org/obo/MONDO_0015923	acquired peripheral neuropathy		
http://purl.obolibrary.org/obo/MONDO_0017266	keratinopathic ichthyosis	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0859383	ichthyosis hystrix	http://purl.obolibrary.org/obo/MONDO_0015947	inherited ichthyosis		
http://purl.obolibrary.org/obo/MONDO_0044201	T+ B+ severe combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0030981	immunodeficiency 79	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0031520	familial severe combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015974	severe combined immunodeficiency		
http://purl.obolibrary.org/obo/MONDO_0022572	bilateral renal agenesis dominant type	http://purl.obolibrary.org/obo/MONDO_0015986	bilateral renal agenesis		
http://purl.obolibrary.org/obo/MONDO_0017484	femoral agenesis/hypoplasia, unilateral	http://purl.obolibrary.org/obo/MONDO_0016032	femoral agenesis/hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0017485	femoral agenesis/hypoplasia, bilateral	http://purl.obolibrary.org/obo/MONDO_0016032	femoral agenesis/hypoplasia		
http://purl.obolibrary.org/obo/MONDO_0017080	occipital encephalocele	http://purl.obolibrary.org/obo/MONDO_0016057	isolated encephalocele		
http://purl.obolibrary.org/obo/MONDO_0017081	parietal encephalocele	http://purl.obolibrary.org/obo/MONDO_0016057	isolated encephalocele		
http://purl.obolibrary.org/obo/MONDO_0017082	basal encephalocele	http://purl.obolibrary.org/obo/MONDO_0016057	isolated encephalocele		
http://purl.obolibrary.org/obo/MONDO_0016020	frontal encephalocele	http://purl.obolibrary.org/obo/MONDO_0016057	isolated encephalocele		
http://purl.obolibrary.org/obo/MONDO_0035403	serous cystadenoma of childhood	http://purl.obolibrary.org/obo/MONDO_0016092	serous or mucinous cystadenoma of childhood		
http://purl.obolibrary.org/obo/MONDO_0035404	mucinous cystadenoma of childhood	http://purl.obolibrary.org/obo/MONDO_0016092	serous or mucinous cystadenoma of childhood		
http://purl.obolibrary.org/obo/MONDO_0035405	seromucinous cystadenoma of childhood	http://purl.obolibrary.org/obo/MONDO_0016092	serous or mucinous cystadenoma of childhood		
http://purl.obolibrary.org/obo/MONDO_0018942	macrophagic myofasciitis	http://purl.obolibrary.org/obo/MONDO_0016105	acquired skeletal muscle disease		
http://purl.obolibrary.org/obo/MONDO_0016147	neuromuscular disease caused by qualitative or quantitative defects of dystrophin	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016191	neuromuscular disease caused by qualitative or quantitative defects of titin	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016193	neuromuscular disease caused by qualitative or quantitative defects of alpha-actin	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016197	neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016199	neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0017303	neuromuscular disease caused by qualitative or quantitative defects of tropomyosin	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016186	neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016194	neuromuscular disease caused by qualitative or quantitative defects of nebulin	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0018282	neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan	http://purl.obolibrary.org/obo/MONDO_0016139	qualitative or quantitative protein defects in neuromuscular diseases		
http://purl.obolibrary.org/obo/MONDO_0016156	qualitative or quantitative defects of FKRP	http://purl.obolibrary.org/obo/MONDO_0016155	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan		
http://purl.obolibrary.org/obo/MONDO_0016184	qualitative or quantitative defects of protein O-mannosyltransferase 1	http://purl.obolibrary.org/obo/MONDO_0016155	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan		
http://purl.obolibrary.org/obo/MONDO_0016185	qualitative or quantitative defects of protein O-mannosyltransferase 2	http://purl.obolibrary.org/obo/MONDO_0016155	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan		
http://purl.obolibrary.org/obo/MONDO_0016189	qualitative or quantitative defects of filamin C	http://purl.obolibrary.org/obo/MONDO_0016186	neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins		
http://purl.obolibrary.org/obo/MONDO_0016190	qualitative or quantitative defects of protein ZASP	http://purl.obolibrary.org/obo/MONDO_0016186	neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins		
http://purl.obolibrary.org/obo/MONDO_0016188	qualitative or quantitative defects of alphaB-cristallin	http://purl.obolibrary.org/obo/MONDO_0016186	neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins		
http://purl.obolibrary.org/obo/MONDO_0018818	facial diplegia with paresthesias	http://purl.obolibrary.org/obo/MONDO_0016218	Guillain-Barre syndrome		
http://purl.obolibrary.org/obo/MONDO_0100169	polyneuropathy, inflammatory demyelinating, chronic	http://purl.obolibrary.org/obo/MONDO_0016218	Guillain-Barre syndrome		
http://purl.obolibrary.org/obo/MONDO_0016496	pharyngeal-cervical-brachial variant of Guillain-Barre syndrome	http://purl.obolibrary.org/obo/MONDO_0016218	Guillain-Barre syndrome		
http://purl.obolibrary.org/obo/MONDO_0016498	acute pure sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0020683	acute disease		
http://purl.obolibrary.org/obo/MONDO_0015094	subependymal nodular heterotopia	http://purl.obolibrary.org/obo/MONDO_0016292	nodular neuronal heterotopia		
http://purl.obolibrary.org/obo/MONDO_0015093	sub-cortical nodular heterotopia	http://purl.obolibrary.org/obo/MONDO_0016292	nodular neuronal heterotopia		
http://purl.obolibrary.org/obo/MONDO_0016332	hypertrophic cardiomyopathy due to intensive athletic training	http://purl.obolibrary.org/obo/MONDO_0016330	non-familial hypertrophic cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0957456	classical dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		
http://purl.obolibrary.org/obo/MONDO_0957458	adermatopathic dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	dermatomyositis		
http://purl.obolibrary.org/obo/MONDO_0016798	ataxia neuropathy spectrum	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0014869	hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0015632	FASTKD2-related infantile mitochondrial encephalomyopathy	http://purl.obolibrary.org/obo/MONDO_0016387	mitochondrial oxidative phosphorylation disorder		
http://purl.obolibrary.org/obo/MONDO_0971094	cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation	http://purl.obolibrary.org/obo/MONDO_0016460	polyvalvular heart disease syndrome		
http://purl.obolibrary.org/obo/MONDO_0015741	distal trisomy 18q	http://purl.obolibrary.org/obo/MONDO_0016968	partial trisomy of the long arm of chromosome 18		
http://purl.obolibrary.org/obo/MONDO_0015099	unilateral hemispheric polymicrogyria	http://purl.obolibrary.org/obo/MONDO_0017092	unilateral polymicrogyria		
http://purl.obolibrary.org/obo/MONDO_0018022	hemoglobin Lepore-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0017145	beta-thalassemia and related diseases		
http://purl.obolibrary.org/obo/MONDO_0018672	IgG4-related aortitis	http://purl.obolibrary.org/obo/MONDO_0017287	immunoglobulin G4-related sclerosing disease		
http://purl.obolibrary.org/obo/MONDO_0017342	Epstein-Barr virus-related tumor	http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor		
http://purl.obolibrary.org/obo/MONDO_0015157	human herpesvirus 8-related tumor	http://purl.obolibrary.org/obo/MONDO_0017341	virus associated tumor		
http://purl.obolibrary.org/obo/MONDO_0017395	fixed pigmented erythema	http://purl.obolibrary.org/obo/MONDO_0017396	toxic dermatosis		
http://purl.obolibrary.org/obo/MONDO_0018813	high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement	http://purl.obolibrary.org/obo/MONDO_0017595	aggressive B-cell non-Hodgkin lymphoma		
http://purl.obolibrary.org/obo/MONDO_0015097	aortic valve dysplasia	http://purl.obolibrary.org/obo/MONDO_0017735	congenital aortic valve stenosis		
http://purl.obolibrary.org/obo/MONDO_0015728	distal trisomy 15q	http://purl.obolibrary.org/obo/MONDO_0017806	15q overgrowth syndrome		
http://purl.obolibrary.org/obo/MONDO_0013918	distal tetrasomy 15q	http://purl.obolibrary.org/obo/MONDO_0017806	15q overgrowth syndrome		
http://purl.obolibrary.org/obo/MONDO_0007653	genochondromatosis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0011606	baby rattle pelvis dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0015462	thin ribs-tubular bones-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0015907	epimetaphyseal skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0019695	acromelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0018566	short stature-advanced bone age-early-onset osteoarthritis syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0800204	calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0800307	de la Chapelle dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0022586	bone dysplasia Moore type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0800088	lysosomal storage disease with skeletal involvement	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0859203	rhizomelic dysplasia, Ain-Naz type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0859226	craniotubular dysplasia, Ikegawa type	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0018240	TRPV4-related bone disorder	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0019685	FGFR3-related chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0019690	filamin-related bone disorder	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0019698	bent bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0019707	primary osteolysis	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0014704	skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0014821	complex lethal osteochondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0019713	non-syndromic limb reduction defect	http://purl.obolibrary.org/obo/MONDO_0018230	skeletal dysplasia		
http://purl.obolibrary.org/obo/MONDO_0014222	immunodeficiency 14	http://purl.obolibrary.org/obo/MONDO_0018338	activated PI3K-delta syndrome		
http://purl.obolibrary.org/obo/MONDO_0018355	SIM1-related Prader-Willi-like syndrome	http://purl.obolibrary.org/obo/MONDO_0018354	Prader-Willi-like syndrome		
http://purl.obolibrary.org/obo/MONDO_0859150	BDV syndrome	http://purl.obolibrary.org/obo/MONDO_0018354	Prader-Willi-like syndrome		
http://purl.obolibrary.org/obo/MONDO_0014846	spinocerebellar ataxia, autosomal recessive 23	http://purl.obolibrary.org/obo/MONDO_0018446	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0015820	primary cutaneous B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018898	primary cutaneous lymphoma		
http://purl.obolibrary.org/obo/MONDO_0035295	congenital primary megaureter, refluxing and obstructed form	http://purl.obolibrary.org/obo/MONDO_0018960	congenital primary megaureter		
http://purl.obolibrary.org/obo/MONDO_0016549	primary megaureter, adult-onset form	http://purl.obolibrary.org/obo/MONDO_0018960	congenital primary megaureter		
http://purl.obolibrary.org/obo/MONDO_0016550	congenital primary megaureter, obstructed form	http://purl.obolibrary.org/obo/MONDO_0018960	congenital primary megaureter		
http://purl.obolibrary.org/obo/MONDO_0016551	congenital primary megaureter, refluxing form	http://purl.obolibrary.org/obo/MONDO_0018960	congenital primary megaureter		
http://purl.obolibrary.org/obo/MONDO_0016552	congenital primary megaureter, nonrefluxing and unobstructed form	http://purl.obolibrary.org/obo/MONDO_0018960	congenital primary megaureter		
http://purl.obolibrary.org/obo/MONDO_0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019042	multiple congenital anomalies/dysmorphic syndrome		
http://purl.obolibrary.org/obo/MONDO_0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0019042	multiple congenital anomalies/dysmorphic syndrome		
http://purl.obolibrary.org/obo/MONDO_0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019042	multiple congenital anomalies/dysmorphic syndrome		
http://purl.obolibrary.org/obo/MONDO_0007696	Emery-Nelson syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0014069	syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0015225	arthrogryposis syndrome	http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation		
http://purl.obolibrary.org/obo/MONDO_0015831	unilateral aplasia of the mullerian ducts	http://purl.obolibrary.org/obo/MONDO_0019128	mullerian aplasia		
http://purl.obolibrary.org/obo/MONDO_0018244	obesity due to SIM1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019182	inherited obesity		
http://purl.obolibrary.org/obo/MONDO_0014309	obesity due to CEP19 deficiency	http://purl.obolibrary.org/obo/MONDO_0019182	inherited obesity		
http://purl.obolibrary.org/obo/MONDO_0100327	hypercholanemia, familial	http://purl.obolibrary.org/obo/MONDO_0019218	inborn disorder of bile acid synthesis		
http://purl.obolibrary.org/obo/MONDO_0019289	hyperpigmentation of the skin	http://purl.obolibrary.org/obo/MONDO_0019288	skin pigmentation disorder		
http://purl.obolibrary.org/obo/MONDO_0957476	isolated persistent urogenital sinus	http://purl.obolibrary.org/obo/MONDO_0019356	urogenital tract malformation		
http://purl.obolibrary.org/obo/MONDO_0016661	infantile onset panniculitis with uveitis and systemic granulomatosis	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0017332	pyoderma gangrenosum-acne-suppurative hidradenitis syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0017958	magic syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0850053	F12-associated cold autoinflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0850065	neonatal-onset severe multisystemic autoinflammatory disease with increased IL18	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0850066	SAMD9L-associated autoinflammatory syndrome	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0957018	autoinflammatory syndrome of childhood	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0957271	autoinflammatory disease, systemic, with vasculitis	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0957405	granulomatous autoinflammatory syndrome of childhood	http://purl.obolibrary.org/obo/MONDO_0019751	autoinflammatory syndrome		
http://purl.obolibrary.org/obo/MONDO_0957494	autoinflammatory disease, multisystem, with immune dysregulation, X-linked	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0031384	autoinflammatory syndrome, familial, Behcet-like	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0013944	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0013574	cutis laxa - Marfanoid syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0017793	marfanoid habitus-inguinal hernia-advanced bone age syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0100298	abdominal wall malformation	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0019042	multiple congenital anomalies/dysmorphic syndrome	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0019054	congenital limb malformation	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0019356	urogenital tract malformation	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0958083	conjoined twins	http://purl.obolibrary.org/obo/MONDO_0019755	developmental defect during embryogenesis		
http://purl.obolibrary.org/obo/MONDO_0015929	thoracic malformation	http://purl.obolibrary.org/obo/MONDO_0020001	respiratory or thoracic malformation		
http://purl.obolibrary.org/obo/MONDO_0011062	aprosencephaly cerebellar dysgenesis	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0017107	isolated cerebellar vermis agenesis	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0019132	spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	http://purl.obolibrary.org/obo/MONDO_0020022	central nervous system malformation		
http://purl.obolibrary.org/obo/MONDO_0016058	paroxysmal dystonia	http://purl.obolibrary.org/obo/MONDO_0020065	combined dystonia		
http://purl.obolibrary.org/obo/MONDO_0018267	combined cervical dystonia	http://purl.obolibrary.org/obo/MONDO_0020065	combined dystonia		
http://purl.obolibrary.org/obo/MONDO_0957433	primary pulmonary vein stenosis	http://purl.obolibrary.org/obo/MONDO_0020292	congenital anomaly of the great arteries		
http://purl.obolibrary.org/obo/MONDO_0979271	congenital intrahepatic arterioportal fistula	http://purl.obolibrary.org/obo/MONDO_0020296	congenital arteriovenous fistula		
http://purl.obolibrary.org/obo/MONDO_0015783	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	http://purl.obolibrary.org/obo/MONDO_0020301	Prader-Willi syndrome due to paternal 15q11q13 deletion		
http://purl.obolibrary.org/obo/MONDO_0015784	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	http://purl.obolibrary.org/obo/MONDO_0020301	Prader-Willi syndrome due to paternal 15q11q13 deletion		
http://purl.obolibrary.org/obo/MONDO_0800377	ACTH-independent adrenal Cushing syndrome, somatic	http://purl.obolibrary.org/obo/MONDO_0020529	ACTH-independent Cushing syndrome		
http://purl.obolibrary.org/obo/MONDO_0018857	creeping myiasis	http://purl.obolibrary.org/obo/MONDO_0020568	cutaneous myiasis		
http://purl.obolibrary.org/obo/MONDO_0015622	wound myiasis	http://purl.obolibrary.org/obo/MONDO_0020568	cutaneous myiasis		
http://purl.obolibrary.org/obo/HP_0007894	Fundus hypopigmentation	http://purl.obolibrary.org/obo/HP_0031605	Abnormal fundus pigmentation		
http://purl.obolibrary.org/obo/HP_0011512	Fundus hyperpigmentation	http://purl.obolibrary.org/obo/HP_0031605	Abnormal fundus pigmentation		
http://purl.obolibrary.org/obo/MONDO_0000147	polyposis	http://purl.obolibrary.org/obo/MONDO_0021075	neoplastic polyp		
http://purl.obolibrary.org/obo/MONDO_0009434	hypoproteinemia, hypercatabolic	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0010954	Wiskott-Aldrich syndrome, autosomal dominant form	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0011664	immunodeficiency due to CD25 deficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0014637	DOCK2 deficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0018636	autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0850067	immune deficiency due to impaired neutrophil phagocytosis and migration	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0957229	hatipoglu immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0957535	immunodeficiency 112	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0971151	immunodeficiency 122	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0971177	immunodeficiency 123 with HPV-related verrucosis	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0975749	immunodeficiency 125	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0975761	immunodeficiency 126, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0020849	immunodeficiency 57	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0970993	immunodeficiency 119	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0971001	immunodeficiency 121 with autoinflammation	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0980729	immunodeficiency 134 (Epstein-Barr virus-specific)	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0023655	immunodeficiency 14b, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030333	immunodeficiency 84	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030013	immunodeficiency 66	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030692	immunodeficiency 95	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030970	immunodeficiency 106, susceptibility to viral infections	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0031030	immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0700330	PTEN harmartoma tumor syndrome with immune disorder	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030428	immunodeficiency 85 and autoimmunity	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030448	immunodeficiency 86	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030484	immunodeficiency 89 and autoimmunity	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0026767	immunodeficiency 74, COVID-19-related, X-linked	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0033541	immunodeficiency 69	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0033542	immunodeficiency 70	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0033551	immunodeficiency 72 with autoinflammation	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0054696	immunodeficiency 53	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0054697	immunodeficiency 11b with atopic dermatitis	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030971	immunodeficiency 78 with autoimmunity and developmental delay	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030973	immunodeficiency 77	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0976228	immunodeficiency 132b	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0979570	immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0032599	immunodeficiency 15a	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0032723	immunodeficiency 60	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0032763	immunodeficiency 62	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0032782	immunodeficiency 63 with lymphoproliferation and autoimmunity	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0032803	immunodeficiency 64	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0032848	immunodeficiency 65, susceptibility to viral infections	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0975832	immunodeficiency 127	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0975834	immunodeficiency 128	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0014082	cryptosporidiosis-chronic cholangitis-liver disease syndrome	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0014727	immunodeficiency 45	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0014760	TFRC-related combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030813	immunodeficiency 101 (varicella zoster virus-specific)	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0030858	immunodeficiency 75	http://purl.obolibrary.org/obo/MONDO_0021094	immunodeficiency disease		
http://purl.obolibrary.org/obo/MONDO_0018426	AXIN2-related attenuated familial adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis		
http://purl.obolibrary.org/obo/MONDO_0018653	Polymerase proofreading-related adenomatous polyposis	http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis		
http://purl.obolibrary.org/obo/MONDO_0014630	familial adenomatous polyposis 3	http://purl.obolibrary.org/obo/MONDO_0021057	classic or attenuated familial adenomatous polyposis		
http://purl.obolibrary.org/obo/MONDO_0016749	tumor of cranial and spinal nerves	http://purl.obolibrary.org/obo/MONDO_0021248	nervous system neoplasm		
http://purl.obolibrary.org/obo/HP_0410211	Abnormal blood gas level in cord blood	http://purl.obolibrary.org/obo/HP_0410210	Abnormal cord blood measurement		
http://purl.obolibrary.org/obo/HP_0500149	Hyperglutamatemia	http://purl.obolibrary.org/obo/HP_0500148	Abnormal circulating glutamate concentration		
http://purl.obolibrary.org/obo/MONDO_0020848	osteopetrosis, autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0020645	autosomal dominant osteopetrosis		
http://purl.obolibrary.org/obo/MONDO_0980938	osteopetrosis, autosomal dominant 4	http://purl.obolibrary.org/obo/MONDO_0020645	autosomal dominant osteopetrosis		
http://purl.obolibrary.org/obo/MONDO_0033821	fungal keratitis	http://purl.obolibrary.org/obo/MONDO_0023865	corneal infection		
http://purl.obolibrary.org/obo/MONDO_0971127	diffuse unilateral subacute neuroretinitis	http://purl.obolibrary.org/obo/MONDO_0020947	parasitic eye infection		
http://purl.obolibrary.org/obo/MONDO_0957464	primary cutaneous tuberculosis	http://purl.obolibrary.org/obo/MONDO_0021948	cutaneous tuberculosis		
http://purl.obolibrary.org/obo/MONDO_0008098	mesomelic dwarfism, Nievergelt type	http://purl.obolibrary.org/obo/MONDO_0023599	mesomelic dysplasia		
http://purl.obolibrary.org/obo/MONDO_0017310	Marfan and Marfan-related disorder	http://purl.obolibrary.org/obo/MONDO_0023603	hereditary disorder of connective tissue		
http://purl.obolibrary.org/obo/MONDO_0060781	Preeyasombat-Varavithya syndrome	http://purl.obolibrary.org/obo/MONDO_0060779	acquired Fanconi syndrome		
http://purl.obolibrary.org/obo/MONDO_0020630	developmental and epileptic encephalopathy 91	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0958330	developmental and epileptic encephalopathy 113	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0958331	developmental and epileptic encephalopathy 114	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0968946	developmental and epileptic encephalopathy 115	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0970945	developmental and epileptic encephalopathy 116	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033367	developmental and epileptic encephalopathy, 58	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0980948	developmental and epileptic encephalopathy 120	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0980966	developmental and epileptic encephalopathy 121	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0023659	developmental and epileptic encephalopathy 96	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030268	developmental and epileptic encephalopathy 6B	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030054	developmental and epileptic encephalopathy, 86	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030059	developmental and epileptic encephalopathy, 87	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030072	developmental and epileptic encephalopathy, 88	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030695	developmental and epileptic encephalopathy 100	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030957	developmental and epileptic encephalopathy 103	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0031021	developmental and epileptic encephalopathy 104	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0031052	developmental and epileptic encephalopathy 106	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0031055	developmental and epileptic encephalopathy 107	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030453	developmental and epileptic encephalopathy 97	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030472	developmental and epileptic encephalopathy 98	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0026771	developmental and epileptic encephalopathy, 85, with or without midline brain defects	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030881	developmental and epileptic encephalopathy 102	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033361	developmental and epileptic encephalopathy, 52	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033362	developmental and epileptic encephalopathy, 53	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033363	developmental and epileptic encephalopathy, 54	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033365	developmental and epileptic encephalopathy, 56	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033366	developmental and epileptic encephalopathy, 57	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033368	developmental and epileptic encephalopathy, 59	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033369	developmental and epileptic encephalopathy, 60	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033370	developmental and epileptic encephalopathy, 61	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033371	developmental and epileptic encephalopathy, 62	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033372	developmental and epileptic encephalopathy, 63	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033373	developmental and epileptic encephalopathy, 64	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0033374	developmental and epileptic encephalopathy, 65	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0054845	developmental and epileptic encephalopathy, 66	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0979238	developmental and epileptic encephalopathy 118	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032598	developmental and epileptic encephalopathy, 68	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032657	developmental and epileptic encephalopathy, 69	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032663	developmental and epileptic encephalopathy, 70	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032710	developmental and epileptic encephalopathy, 72	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032725	developmental and epileptic encephalopathy, 74	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032752	developmental and epileptic encephalopathy, 75	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032768	developmental and epileptic encephalopathy, 76	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032812	developmental and epileptic encephalopathy, 78	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032813	developmental and epileptic encephalopathy, 79	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032858	developmental and epileptic encephalopathy, 81	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032880	developmental and epileptic encephalopathy, 82	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032895	developmental and epileptic encephalopathy, 83	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0032918	developmental and epileptic encephalopathy, 84	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0020631	developmental and epileptic encephalopathy 92	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0020632	developmental and epileptic encephalopathy 93	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0029138	developmental and epileptic encephalopathy, 67	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0030856	developmental and epileptic encephalopathy 89	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0859314	developmental and epileptic encephalopathy 108	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0859325	developmental and epileptic encephalopathy 109	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0859327	developmental and epileptic encephalopathy 110	http://purl.obolibrary.org/obo/MONDO_0100062	genetic developmental and epileptic encephalopathy		
http://purl.obolibrary.org/obo/MONDO_0800355	parasomnia, sleep terrors type	http://purl.obolibrary.org/obo/MONDO_0100081	sleep disorder		
http://purl.obolibrary.org/obo/ENVO_00000191	solid astronomical body part	http://purl.obolibrary.org/obo/ENVO_01001784	compound astronomical body part		
http://purl.obolibrary.org/obo/ENVO_01000687	coast	http://purl.obolibrary.org/obo/ENVO_01001784	compound astronomical body part		
http://purl.obolibrary.org/obo/MAXO_0000014	radiation therapy	http://purl.obolibrary.org/obo/MAXO_0000002	therapeutic procedure		
http://purl.obolibrary.org/obo/MAXO_0000015	biologic therapy	http://purl.obolibrary.org/obo/MAXO_0000002	therapeutic procedure		
http://purl.obolibrary.org/obo/MAXO_0001002	immunotherapy procedure	http://purl.obolibrary.org/obo/MAXO_0000015	biologic therapy		
http://purl.obolibrary.org/obo/MAXO_0000230	alkylating agent therapy	http://purl.obolibrary.org/obo/MAXO_0000062	antineoplastic therapy		
http://purl.obolibrary.org/obo/MAXO_0000438	stimulant ADHD agent therapy	http://purl.obolibrary.org/obo/MAXO_0000437	ADHD agent therapy		
http://purl.obolibrary.org/obo/NCBITaxon_33682	Euglenozoa	http://purl.obolibrary.org/obo/NCBITaxon_2611352	Discoba		
http://purl.obolibrary.org/obo/NCBITaxon_5752	Heterolobosea	http://purl.obolibrary.org/obo/NCBITaxon_2611352	Discoba		
http://purl.obolibrary.org/obo/UBERON_0001073	ileocecal junction	http://purl.obolibrary.org/obo/UBERON_8410024	intestinal junction		
http://purl.obolibrary.org/obo/UBERON_0006574	pectinate line	http://purl.obolibrary.org/obo/UBERON_8410024	intestinal junction		
http://purl.obolibrary.org/obo/UBERON_8410000	duodeno-jejunal junction	http://purl.obolibrary.org/obo/UBERON_8410024	intestinal junction		
http://purl.obolibrary.org/obo/UBERON_8410016	descending sigmoid junction	http://purl.obolibrary.org/obo/UBERON_8410024	intestinal junction		
http://purl.obolibrary.org/obo/UBERON_8410019	jejuno-ileal junction	http://purl.obolibrary.org/obo/UBERON_8410024	intestinal junction		
http://purl.obolibrary.org/obo/UBERON_0036214	rectosigmoid junction	http://purl.obolibrary.org/obo/UBERON_8410024	intestinal junction		
http://purl.obolibrary.org/obo/NCBITaxon_10404	Hepadnaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732515	Blubervirales		
http://purl.obolibrary.org/obo/NCBITaxon_2169561	Ortervirales	http://purl.obolibrary.org/obo/NCBITaxon_2732514	Revtraviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732515	Blubervirales	http://purl.obolibrary.org/obo/NCBITaxon_2732514	Revtraviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2743711	Danioninae	http://purl.obolibrary.org/obo/NCBITaxon_2743709	Danionidae		
http://purl.obolibrary.org/obo/NCBITaxon_46839	Colorado tick fever virus	http://purl.obolibrary.org/obo/NCBITaxon_2748762	Colorado tick fever coltivirus		
http://purl.obolibrary.org/obo/UBERON_0007650	esophagogastric junction	http://purl.obolibrary.org/obo/UBERON_1100000	digestive tract junction		
http://purl.obolibrary.org/obo/UBERON_0006235	foregut-midgut junction	http://purl.obolibrary.org/obo/UBERON_1100000	digestive tract junction		
http://purl.obolibrary.org/obo/UBERON_0012650	gastroduodenal junction	http://purl.obolibrary.org/obo/UBERON_1100000	digestive tract junction		
http://purl.obolibrary.org/obo/UBERON_0015485	choledocho-duodenal junction	http://purl.obolibrary.org/obo/UBERON_1100000	digestive tract junction		
http://purl.obolibrary.org/obo/UBERON_8410024	intestinal junction	http://purl.obolibrary.org/obo/UBERON_1100000	digestive tract junction		
http://purl.obolibrary.org/obo/MONDO_0009054	autosomal recessive cutis laxa type 2, classic type	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		
http://purl.obolibrary.org/obo/MONDO_0030337	cutis laxa, autosomal recessive, type 2E	http://purl.obolibrary.org/obo/MONDO_0100237	inherited cutis laxa		
http://purl.obolibrary.org/obo/MONDO_0030056	Fanconi renotubular syndrome 5	http://purl.obolibrary.org/obo/MONDO_0100238	inherited Fanconi renotubular syndrome		
http://purl.obolibrary.org/obo/MONDO_0007594	factor 5 excess with spontaneous thrombosis	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		
http://purl.obolibrary.org/obo/MONDO_0012872	thrombophilia, familial, due to decreased release of tissue plasminogen activator	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		
http://purl.obolibrary.org/obo/MONDO_0012876	heparin cofactor 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		
http://purl.obolibrary.org/obo/MONDO_0859082	thrombophilia, X-linked, due to factor 8 defect	http://purl.obolibrary.org/obo/MONDO_0100240	inherited thrombophilia		
http://purl.obolibrary.org/obo/MONDO_0011800	glioma susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013094	glioma susceptibility 5	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013095	glioma susceptibility 6	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013096	glioma susceptibility 7	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		
http://purl.obolibrary.org/obo/MONDO_0013097	glioma susceptibility 8	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		
http://purl.obolibrary.org/obo/MONDO_0024498	glioma susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0100242	glioma susceptibility		
http://purl.obolibrary.org/obo/MONDO_0012365	gallbladder disease 2	http://purl.obolibrary.org/obo/MONDO_0700225	hereditary gallbladder disorder		
http://purl.obolibrary.org/obo/MONDO_0012366	gallbladder disease 3	http://purl.obolibrary.org/obo/MONDO_0700225	hereditary gallbladder disorder		
http://purl.obolibrary.org/obo/HP_0003076	Glycosuria	http://purl.obolibrary.org/obo/HP_6000531	Abnormal urinary organic compound level		
http://purl.obolibrary.org/obo/HP_0011279	Abnormality of urine bicarbonate level	http://purl.obolibrary.org/obo/HP_6000531	Abnormal urinary organic compound level		
http://purl.obolibrary.org/obo/HP_0012610	Abnormality of urinary uric acid level	http://purl.obolibrary.org/obo/HP_6000531	Abnormal urinary organic compound level		
http://purl.obolibrary.org/obo/MONDO_0859358	cardiomyopathy, dilated, 2H	http://purl.obolibrary.org/obo/MONDO_0700335	familial isolated dilated cardiomyopathy		
http://purl.obolibrary.org/obo/MONDO_0012705	familial temporal lobe epilepsy 3	http://purl.obolibrary.org/obo/MONDO_0800493	familial mesial temporal lobe epilepsy		
http://purl.obolibrary.org/obo/GO_0005577	fibrinogen complex	http://purl.obolibrary.org/obo/GO_0140392	extracellular protein-containing complex		
http://purl.obolibrary.org/obo/UBERON_0000463	organism substance	http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part		
http://purl.obolibrary.org/obo/UBERON_0000476	acellular anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part		
http://purl.obolibrary.org/obo/UBERON_0005423	developing anatomical structure	http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part		
http://purl.obolibrary.org/obo/UBERON_0036215	anatomical surface region	http://purl.obolibrary.org/obo/UBERON_0000001	gross anatomical part		
http://purl.obolibrary.org/obo/CL_0009000	sensory neuron of spinal nerve	http://purl.obolibrary.org/obo/CL_3000004	peripheral sensory neuron		
http://purl.obolibrary.org/obo/MONDO_0010764	hearing loss, Y-linked 1	http://purl.obolibrary.org/obo/MONDO_0033304	nonsyndromic deafness, Y-linked		
http://purl.obolibrary.org/obo/MONDO_0027048	deafness, Y-linked 2	http://purl.obolibrary.org/obo/MONDO_0033304	nonsyndromic deafness, Y-linked		
http://purl.obolibrary.org/obo/MONDO_0020765	neuropathy, congenital hypomyelinating, 2	http://purl.obolibrary.org/obo/MONDO_0033352	neuropathy, congenital hypomelinating		
http://purl.obolibrary.org/obo/UBERON_0004784	heart ventricle wall	http://purl.obolibrary.org/obo/UBERON_0037144	wall of heart		
http://purl.obolibrary.org/obo/NCBITaxon_10240	Poxviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732527	Chitovirales		
http://purl.obolibrary.org/obo/NCBITaxon_10780	Parvoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732534	Piccovirales		
http://purl.obolibrary.org/obo/NCBITaxon_37727	Talaromyces marneffei	http://purl.obolibrary.org/obo/NCBITaxon_2752537	Talaromyces sect. Talaromyces		
http://purl.obolibrary.org/obo/NCBITaxon_2497569	Negarnaviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732405	Duplornaviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732406	Kitrinoviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732408	Pisuviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732396	Orthornavirae		
http://purl.obolibrary.org/obo/NCBITaxon_11018	Togaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732544	Martellivirales		
http://purl.obolibrary.org/obo/NCBITaxon_11050	Flaviviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732545	Amarillovirales		
http://purl.obolibrary.org/obo/NCBITaxon_7961	Cyprinus	http://purl.obolibrary.org/obo/NCBITaxon_2743694	Cyprininae		
http://purl.obolibrary.org/obo/NCBITaxon_3079366	Hepeviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732543	Hepelivirales		
http://purl.obolibrary.org/obo/NCBITaxon_2560066	Matonaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732543	Hepelivirales		
http://purl.obolibrary.org/obo/NCBITaxon_37162	Mycobacterium avium complex sp.	http://purl.obolibrary.org/obo/NCBITaxon_2750822	unclassified Mycobacterium avium complex (MAC)		
http://purl.obolibrary.org/obo/NCBITaxon_151341	Polyomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732532	Sepolyvirales		
http://purl.obolibrary.org/obo/NCBITaxon_2788857	unclassified Zurhausenvirales	http://purl.obolibrary.org/obo/NCBITaxon_2732533	Zurhausenvirales		
http://purl.obolibrary.org/obo/NCBITaxon_7954	Danio	http://purl.obolibrary.org/obo/NCBITaxon_2743711	Danioninae		
http://purl.obolibrary.org/obo/NCBITaxon_2731360	Heunggongvirae	http://purl.obolibrary.org/obo/NCBITaxon_2731341	Duplodnaviria		
http://purl.obolibrary.org/obo/NCBITaxon_2732092	Shotokuvirae	http://purl.obolibrary.org/obo/NCBITaxon_2731342	Monodnaviria		
http://purl.obolibrary.org/obo/NCBITaxon_2731361	Peploviricota	http://purl.obolibrary.org/obo/NCBITaxon_2731360	Heunggongvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2731363	Herviviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2731361	Peploviricota		
http://purl.obolibrary.org/obo/NCBITaxon_548681	Herpesvirales	http://purl.obolibrary.org/obo/NCBITaxon_2731363	Herviviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732005	Bamfordvirae	http://purl.obolibrary.org/obo/NCBITaxon_2732004	Varidnaviria		
http://purl.obolibrary.org/obo/NCBITaxon_2732007	Nucleocytoviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732005	Bamfordvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732008	Preplasmiviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732005	Bamfordvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732525	Pokkesviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732007	Nucleocytoviricota		
http://purl.obolibrary.org/obo/NCBITaxon_3412695	Prepoliviricotina	http://purl.obolibrary.org/obo/NCBITaxon_2732008	Preplasmiviricota		
http://purl.obolibrary.org/obo/NCBITaxon_3412694	Polisuviricotina	http://purl.obolibrary.org/obo/NCBITaxon_2732008	Preplasmiviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732415	Cossaviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732092	Shotokuvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732416	Cressdnaviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732092	Shotokuvirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732409	Artverviricota	http://purl.obolibrary.org/obo/NCBITaxon_2732397	Pararnavirae		
http://purl.obolibrary.org/obo/NCBITaxon_2732459	Resentoviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732405	Duplornaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732461	Alsuviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732406	Kitrinoviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732462	Flasuviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732406	Kitrinoviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732506	Pisoniviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732408	Pisuviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732507	Stelpaviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732408	Pisuviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732514	Revtraviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732409	Artverviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732421	Papovaviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732415	Cossaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732422	Quintoviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732415	Cossaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732423	Arfiviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732416	Cressdnaviricota		
http://purl.obolibrary.org/obo/NCBITaxon_2732532	Sepolyvirales	http://purl.obolibrary.org/obo/NCBITaxon_2732421	Papovaviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732533	Zurhausenvirales	http://purl.obolibrary.org/obo/NCBITaxon_2732421	Papovaviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732534	Piccovirales	http://purl.obolibrary.org/obo/NCBITaxon_2732422	Quintoviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732536	Cirlivirales	http://purl.obolibrary.org/obo/NCBITaxon_2732423	Arfiviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2788829	unclassified Resentoviricetes	http://purl.obolibrary.org/obo/NCBITaxon_2732459	Resentoviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732544	Martellivirales	http://purl.obolibrary.org/obo/NCBITaxon_2732461	Alsuviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732543	Hepelivirales	http://purl.obolibrary.org/obo/NCBITaxon_2732461	Alsuviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732545	Amarillovirales	http://purl.obolibrary.org/obo/NCBITaxon_2732462	Flasuviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_464095	Picornavirales	http://purl.obolibrary.org/obo/NCBITaxon_2732506	Pisoniviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_76804	Nidovirales	http://purl.obolibrary.org/obo/NCBITaxon_2732506	Pisoniviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732551	Stellavirales	http://purl.obolibrary.org/obo/NCBITaxon_2732507	Stelpaviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_2732527	Chitovirales	http://purl.obolibrary.org/obo/NCBITaxon_2732525	Pokkesviricetes		
http://purl.obolibrary.org/obo/NCBITaxon_39724	Circoviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732536	Cirlivirales		
http://purl.obolibrary.org/obo/NCBITaxon_39733	Astroviridae	http://purl.obolibrary.org/obo/NCBITaxon_2732551	Stellavirales		
http://purl.obolibrary.org/obo/PATO_0070025	unipolar neuron morphology	http://purl.obolibrary.org/obo/PATO_0010006	cell morphology		
http://purl.obolibrary.org/obo/PATO_0070026	multipolar neuron morphology	http://purl.obolibrary.org/obo/PATO_0010006	cell morphology		
http://purl.obolibrary.org/obo/PATO_0070027	bitufted dendrite cell morphology	http://purl.obolibrary.org/obo/PATO_0010006	cell morphology		
http://purl.obolibrary.org/obo/MONDO_0958273	cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation	http://purl.obolibrary.org/obo/MONDO_0958091	cleft palate-congenital heart defect-intellectual disability syndrome		
http://purl.obolibrary.org/obo/MONDO_0958274	benign atrophic papulosis	http://purl.obolibrary.org/obo/MONDO_0958110	atrophic papulosis		
http://purl.obolibrary.org/obo/HP_0003355	Aminoaciduria	http://purl.obolibrary.org/obo/HP_0025745	Abnormal urine amino acid level		
http://purl.obolibrary.org/obo/HP_0000729	Autistic behavior	http://purl.obolibrary.org/obo/HP_0025783	Diagnostic behavioral phenotype		
http://purl.obolibrary.org/obo/UBERON_6000137	embryonic tagma	http://purl.obolibrary.org/obo/UBERON_6000002	arthropod tagma		
http://purl.obolibrary.org/obo/UBERON_6001728	insect larval tagma	http://purl.obolibrary.org/obo/UBERON_6000002	arthropod tagma		
http://purl.obolibrary.org/obo/UBERON_6003005	insect adult tagma	http://purl.obolibrary.org/obo/UBERON_6000002	arthropod tagma		
http://purl.obolibrary.org/obo/UBERON_6007280	insect embryonic/larval head sense organ	http://purl.obolibrary.org/obo/UBERON_6002639	insect larval sense organ		
http://purl.obolibrary.org/obo/ENVO_01000875	precipitation process	http://purl.obolibrary.org/obo/ENVO_03000010	material transport process		
http://purl.obolibrary.org/obo/ENVO_01001334	advective transport process	http://purl.obolibrary.org/obo/ENVO_03000010	material transport process		
http://purl.obolibrary.org/obo/ENVO_01001346	erosion	http://purl.obolibrary.org/obo/ENVO_03000010	material transport process		
http://purl.obolibrary.org/obo/ENVO_01001367	primary aerosol formation process	http://purl.obolibrary.org/obo/ENVO_03000010	material transport process		
http://purl.obolibrary.org/obo/ENVO_01001510	material congelation process	http://purl.obolibrary.org/obo/ENVO_03000043	material transformation process		
http://purl.obolibrary.org/obo/ENVO_01001084	particulate matter formation process	http://purl.obolibrary.org/obo/ENVO_03000043	material transformation process		
http://purl.obolibrary.org/obo/ENVO_01000743	land consumption process	http://purl.obolibrary.org/obo/ENVO_01000952	anthropisation		
http://purl.obolibrary.org/obo/HP_0030682	Left ventricular noncompaction	http://purl.obolibrary.org/obo/HP_0031192	Abnormal morphology of left ventricular trabeculae		
http://purl.obolibrary.org/obo/ENVO_01001087	formation of a liquid aerosol in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001085	atmospheric aerosol formation		
http://purl.obolibrary.org/obo/ENVO_01001086	formation of a solid aerosol in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001085	atmospheric aerosol formation		
http://purl.obolibrary.org/obo/ENVO_01001639	formation of a solid aerosol from liquid material in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001086	formation of a solid aerosol in an atmosphere		
http://purl.obolibrary.org/obo/ENVO_01001090	formation of a solid aerosol from gaseous material in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001086	formation of a solid aerosol in an atmosphere		
http://purl.obolibrary.org/obo/ENVO_01001147	helium planet	http://purl.obolibrary.org/obo/ENVO_01001122	gas planet		
http://purl.obolibrary.org/obo/ENVO_01000277	water ice	http://purl.obolibrary.org/obo/ENVO_01001125	ice		
http://purl.obolibrary.org/obo/ENVO_01001138	carbon dioxide ice	http://purl.obolibrary.org/obo/ENVO_01001125	ice		
http://purl.obolibrary.org/obo/ENVO_01001140	ammonia ice	http://purl.obolibrary.org/obo/ENVO_01001125	ice		
http://purl.obolibrary.org/obo/ENVO_01001141	carbon monoxide ice	http://purl.obolibrary.org/obo/ENVO_01001125	ice		
http://purl.obolibrary.org/obo/ENVO_01001155	astrogeological gas	http://purl.obolibrary.org/obo/ENVO_01001154	volatile astrogeological material		
http://purl.obolibrary.org/obo/MONDO_0014120	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		
http://purl.obolibrary.org/obo/MONDO_0014683	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	http://purl.obolibrary.org/obo/MONDO_0000171	muscular dystrophy-dystroglycanopathy, type A		
http://purl.obolibrary.org/obo/MONDO_0700415	non-paraneoplastic sensory ganglionopathy	http://purl.obolibrary.org/obo/MONDO_0021260	sensory ganglionopathy		
http://purl.obolibrary.org/obo/MONDO_0700416	paraneoplastic sensory ganglionopathy	http://purl.obolibrary.org/obo/MONDO_0021260	sensory ganglionopathy		
http://purl.obolibrary.org/obo/NCBITaxon_71585	Balantioides coli	http://purl.obolibrary.org/obo/NCBITaxon_2038102	Balantioides		
http://purl.obolibrary.org/obo/NCBITaxon_241475	Dioctophymatoidea	http://purl.obolibrary.org/obo/NCBITaxon_2044726	Dioctophymatida		
http://purl.obolibrary.org/obo/MONDO_0010868	rippling muscle disease 1	http://purl.obolibrary.org/obo/MONDO_0020704	inherited rippling muscle disease		
http://purl.obolibrary.org/obo/HP_0000822	Hypertension	http://purl.obolibrary.org/obo/HP_0032263	Increased blood pressure		
http://purl.obolibrary.org/obo/HP_0001913	Decreased total granulocyte count	http://purl.obolibrary.org/obo/HP_0032309	Abnormal granulocyte count		
http://purl.obolibrary.org/obo/NCBITaxon_693996	Alphacoronavirus	http://purl.obolibrary.org/obo/NCBITaxon_2501931	Orthocoronavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_694002	Betacoronavirus	http://purl.obolibrary.org/obo/NCBITaxon_2501931	Orthocoronavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_694013	Gammacoronavirus	http://purl.obolibrary.org/obo/NCBITaxon_2501931	Orthocoronavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_28344	Porcine reproductive and respiratory syndrome virus	http://purl.obolibrary.org/obo/NCBITaxon_2499685	Betaarterivirus americense		
http://purl.obolibrary.org/obo/NCBITaxon_1980442	Orthohantavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560074	Mammantavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_56259	Accipitridae	http://purl.obolibrary.org/obo/NCBITaxon_2558200	Accipitriformes		
http://purl.obolibrary.org/obo/NCBITaxon_260963	Avulavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560069	Avulavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2560194	Orthoavulavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560069	Avulavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_39744	Rubulavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560080	Rubulavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_2560195	Orthorubulavirus	http://purl.obolibrary.org/obo/NCBITaxon_2560080	Rubulavirinae		
http://purl.obolibrary.org/obo/NCBITaxon_3051375	Orthoavulavirus javaense	http://purl.obolibrary.org/obo/NCBITaxon_2560194	Orthoavulavirus		
http://purl.obolibrary.org/obo/MONDO_0800341	congenital myopathy 4A, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0100108	TPM3-related myopathy		
http://purl.obolibrary.org/obo/HP_0012025	Abnormal circulating ornithine concentration	http://purl.obolibrary.org/obo/HP_0033109	Abnormal circulating non-proteinogenic amino acid concentration		
http://purl.obolibrary.org/obo/MONDO_0030876	cardioacrofacial dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0031386	cardioacrofacial dysplasia		
http://purl.obolibrary.org/obo/MONDO_0030877	cardioacrofacial dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0031386	cardioacrofacial dysplasia		
http://purl.obolibrary.org/obo/HP_0002904	Hyperbilirubinemia	http://purl.obolibrary.org/obo/HP_0033479	Abnormal circulating bilirubin concentration		
http://purl.obolibrary.org/obo/HP_0002092	Pulmonary arterial hypertension	http://purl.obolibrary.org/obo/HP_0033578	Pre-capillary pulmonary hypertension		
http://purl.obolibrary.org/obo/NCBITaxon_234	Brucella	http://purl.obolibrary.org/obo/NCBITaxon_2826938	Brucella/Ochrobactrum group		
http://purl.obolibrary.org/obo/HP_0000472	Long neck	http://purl.obolibrary.org/obo/HP_0025668	Abnormal neck morphology		
http://purl.obolibrary.org/obo/HP_0000475	Broad neck	http://purl.obolibrary.org/obo/HP_0025668	Abnormal neck morphology		
http://purl.obolibrary.org/obo/HP_0011425	Fetal ultrasound soft marker	http://purl.obolibrary.org/obo/HP_0034058	Abnormal fetal morphology		
http://purl.obolibrary.org/obo/HP_0001557	Prenatal movement abnormality	http://purl.obolibrary.org/obo/HP_0034059	Abnormal fetal physiology		
http://purl.obolibrary.org/obo/HP_0040134	Abnormal hepatic iron concentration	http://purl.obolibrary.org/obo/HP_0034644	Abnormal liver metabolite concentration		
http://purl.obolibrary.org/obo/HP_0003044	Shoulder flexion contracture	http://purl.obolibrary.org/obo/HP_0034665	Shoulder contracture		
http://purl.obolibrary.org/obo/HP_0003045	Abnormal patella morphology	http://purl.obolibrary.org/obo/HP_0034669	Abnormal knee morphology		
http://purl.obolibrary.org/obo/HP_0034671	Knee contracture	http://purl.obolibrary.org/obo/HP_0034669	Abnormal knee morphology		
http://purl.obolibrary.org/obo/HP_0010500	Hyperextensibility of the knee	http://purl.obolibrary.org/obo/HP_0034670	Abnormal knee physiology		
http://purl.obolibrary.org/obo/HP_0003029	Enlargement of the ankles	http://purl.obolibrary.org/obo/HP_0034673	Abnormal ankle morphology		
http://purl.obolibrary.org/obo/HP_0006466	Ankle flexion contracture	http://purl.obolibrary.org/obo/HP_0034677	Ankle contracture		
http://purl.obolibrary.org/obo/HP_0012785	Flexion contracture of finger	http://purl.obolibrary.org/obo/HP_0034681	Finger joint contracture		
http://purl.obolibrary.org/obo/HP_0012379	Abnormal circulating enzyme concentration or activity	http://purl.obolibrary.org/obo/HP_0034684	Abnormal enzyme concentration or activity		
http://purl.obolibrary.org/obo/HP_0000736	Short attention span	http://purl.obolibrary.org/obo/HP_5200044	Reduced attention regulation		
http://purl.obolibrary.org/obo/HP_5200058	Sensory hypersensitivity	http://purl.obolibrary.org/obo/HP_5200046	Sensory behavioral abnormality		
http://purl.obolibrary.org/obo/MONDO_0007809	ichthyosis histrix, Lambert type	http://purl.obolibrary.org/obo/MONDO_0859383	ichthyosis hystrix		
http://purl.obolibrary.org/obo/MONDO_0859690	malignant cystadenoma	http://purl.obolibrary.org/obo/MONDO_0850125	malignant adenoma		
http://purl.obolibrary.org/obo/NCBITaxon_3046277	Orthoflavivirus flavi	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048158	Orthoflavivirus japonicum	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048184	Orthoflavivirus loupingi	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048215	Orthoflavivirus murrayense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048287	Orthoflavivirus powassanense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048448	Orthoflavivirus nilense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048233	Orthoflavivirus omskense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052465	Orthoflavivirus encephalitidis	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052468	Orthoflavivirus louisense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3052464	Orthoflavivirus denguei	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048170	Orthoflavivirus kyasanurense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_3048459	Orthoflavivirus zikaense	http://purl.obolibrary.org/obo/NCBITaxon_3044782	Orthoflavivirus		
http://purl.obolibrary.org/obo/NCBITaxon_64279	Drosophila C virus	http://purl.obolibrary.org/obo/NCBITaxon_3047809	Cripavirus drosophilae		
http://purl.obolibrary.org/obo/NCBITaxon_33743	Kyasanur Forest disease virus	http://purl.obolibrary.org/obo/NCBITaxon_3048170	Orthoflavivirus kyasanurense		
http://purl.obolibrary.org/obo/NCBITaxon_64320	Zika virus	http://purl.obolibrary.org/obo/NCBITaxon_3048459	Orthoflavivirus zikaense		
http://purl.obolibrary.org/obo/NCBITaxon_37296	Human gammaherpesvirus 8	http://purl.obolibrary.org/obo/NCBITaxon_3050300	Rhadinovirus humangamma8		
http://purl.obolibrary.org/obo/NCIT_C16149	Progesterone Receptor Status	http://purl.obolibrary.org/obo/NCIT_C188928	Hormone Receptor Status		
http://purl.obolibrary.org/obo/NCIT_C16150	Estrogen Receptor Status	http://purl.obolibrary.org/obo/NCIT_C188928	Hormone Receptor Status		
http://purl.obolibrary.org/obo/MONDO_0011270	prostate cancer, hereditary, 8	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012093	prostate cancer, hereditary, 3	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012094	prostate cancer, hereditary, 4	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012244	prostate cancer, hereditary, 5	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012300	prostate cancer, hereditary, 6	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012470	prostate cancer, hereditary, 7	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012597	prostate cancer, hereditary, 9	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0010257	prostate cancer, hereditary, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0010405	prostate cancer, hereditary, X-linked 2	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012620	prostate cancer, hereditary, 10	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012768	prostate cancer, hereditary, 11	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012769	prostate cancer, hereditary, 14	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_0012770	prostate cancer, hereditary, 15	http://purl.obolibrary.org/obo/MONDO_0700275	prostate cancer, hereditary		
http://purl.obolibrary.org/obo/MONDO_1011893	neurodegenerative vacuolar storage disease, non-human animal	http://purl.obolibrary.org/obo/MONDO_1012953	neurodegenerative disease, non-human animal		
http://purl.obolibrary.org/obo/MONDO_0006185	obsolete ductal or ductular proliferation				OBSOLETE. A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver.
http://purl.obolibrary.org/obo/MONDO_0006194	obsolete endometrial mucinous adenocarcinoma				OBSOLETE. A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.
http://purl.obolibrary.org/obo/MONDO_0006376	obsolete plantar fibromatosis				OBSOLETE. A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.
http://purl.obolibrary.org/obo/MONDO_0006445	obsolete testicular choriocarcinoma				OBSOLETE. A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.
http://purl.obolibrary.org/obo/MONDO_0006453	obsolete thymic small cell carcinoma				OBSOLETE. An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.
http://purl.obolibrary.org/obo/MONDO_0006454	obsolete thymic squamous cell carcinoma				OBSOLETE. A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.
http://purl.obolibrary.org/obo/MONDO_0006475	obsolete unclassified renal cell carcinoma				OBSOLETE. A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology.
http://purl.obolibrary.org/obo/MONDO_0006514	obsolete recalcitrant atopic dermatitis				Moderate to severe atopic dermatitis with allergic sensitisation.
http://purl.obolibrary.org/obo/MONDO_0006516	obsolete sarcopenia				OBSOLETE. Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles.
http://purl.obolibrary.org/obo/MONDO_0006542	obsolete epidermolysis bullosa acquisita				OBSOLETE. A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes.
http://purl.obolibrary.org/obo/MONDO_0006560	obsolete hypohidrosis				OBSOLETE. Reduced sweating. Causes include burns, dehydration, radiation, and leprosy.
http://purl.obolibrary.org/obo/MONDO_0006584	obsolete neonatal jaundice				OBSOLETE. Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma.
http://purl.obolibrary.org/obo/MONDO_0006674	obsolete benign fibrous mesothelioma				OBSOLETE. A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure.
http://purl.obolibrary.org/obo/MONDO_0006728	obsolete discitis				OBSOLETE. Inflammation of an intervertebral disk or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others.
http://purl.obolibrary.org/obo/MONDO_0006748	obsolete epilepsia partialis continua				OBSOLETE. A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis; Rasmussen syndrome; multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders.
http://purl.obolibrary.org/obo/MONDO_0006768	obsolete gastric outlet obstruction				OBSOLETE. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.
http://purl.obolibrary.org/obo/MONDO_0006872	obsolete nut allergic reaction				OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system.
http://purl.obolibrary.org/obo/MONDO_0007021	obsolete wheat allergic disease				OBSOLETE. Allergic reaction to wheat that is triggered by the immune system.
http://purl.obolibrary.org/obo/MONDO_0007063	obsolete long bone adamantinoma				OBSOLETE. A adamantinoma that involves the long bone.
http://purl.obolibrary.org/obo/MONDO_0007264	obsolete sudden cardiac death				OBSOLETE. An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.
http://purl.obolibrary.org/obo/MONDO_0007665	obsolete glaucoma 1, open angle, E				OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork.
http://purl.obolibrary.org/obo/MONDO_0007761	obsolete hyperlipoproteinemia type IV				OBSOLETE. A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.
http://purl.obolibrary.org/obo/MONDO_0007778	obsolete hypertelorism				OBSOLETE. A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism).
http://purl.obolibrary.org/obo/MONDO_0008033	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B				OBSOLETE. Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.
http://purl.obolibrary.org/obo/MONDO_0008331	obsolete pseudopapilledema				OBSOLETE. Apparent optic disk swelling in the absence of increased intracranial pressure.
http://purl.obolibrary.org/obo/MONDO_0008996	obsolete COACH syndrome 1				OBSOLETE. A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
http://purl.obolibrary.org/obo/MONDO_0009628	obsolete microcolon				A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development.
http://purl.obolibrary.org/obo/MONDO_0009930	obsolete pulmonary arteriovenous malformation				OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.
http://purl.obolibrary.org/obo/MONDO_0009977	obsolete Knobloch syndrome				OBSOLETE. Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.
http://purl.obolibrary.org/obo/MONDO_0010045	obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome				OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.
http://purl.obolibrary.org/obo/MONDO_0010086	obsolete sudden infant death syndrome				OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource.
http://purl.obolibrary.org/obo/MONDO_0010123	obsolete absent thumb-short stature-immunodeficiency syndrome				OBSOLETE. An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
http://purl.obolibrary.org/obo/MONDO_0010330	obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome				OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.
http://purl.obolibrary.org/obo/MONDO_0010601	obsolete gynecomastia, familial				OBSOLETE. An instance of gynecomastia that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0011794	obsolete Dravet syndrome				OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.
http://purl.obolibrary.org/obo/MONDO_0011865	obsolete COL4A1-related familial vascular leukoencephalopathy				OBSOLETE. A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34.
http://purl.obolibrary.org/obo/MONDO_0011893	obsolete autosomal dominant nonsyndromic hearing loss 52				OBSOLETE. An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.
http://purl.obolibrary.org/obo/MONDO_0012128	obsolete transposition of the great arteries, dextro-looped				OBSOLETE. Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.
http://purl.obolibrary.org/obo/MONDO_0012233	obsolete Li-Fraumeni syndrome 2				OBSOLETE. Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene.
http://purl.obolibrary.org/obo/MONDO_0012357	obsolete glaucoma 1, open angle, G				OBSOLETE. Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene.
http://purl.obolibrary.org/obo/MONDO_0014253	obsolete autoimmune lymphoproliferative syndrome type 3				OBSOLETE. A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.
http://purl.obolibrary.org/obo/MONDO_0015107	obsolete rare genetic eye disease				OBSOLETE. A form of eye disease that is both rare and inborn.
http://purl.obolibrary.org/obo/MONDO_0015423	obsolete anaplastic thyroid carcinoma				OBSOLETE. Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.
http://purl.obolibrary.org/obo/MONDO_0015510	obsolete rare genetic respiratory disease				OBSOLETE. Rare genetic respiratory system disease.
http://purl.obolibrary.org/obo/MONDO_0015918	obsolete rare neurodegenerative disease				OBSOLETE. Rare neurodegenerative disease.
http://purl.obolibrary.org/obo/MONDO_0015955	obsolete rare genetic epilepsy				OBSOLETE. A form of epilepsy that is both rare and inborn.
http://purl.obolibrary.org/obo/MONDO_0015956	obsolete rare hereditary ataxia				OBSOLETE. Rare hereditary ataxia.
http://purl.obolibrary.org/obo/MONDO_0015983	obsolete rare genetic syndromic intellectual disability				OBSOLETE. Rare genetic syndromic intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0015984	obsolete rare genetic immune disease				OBSOLETE. Rare genetic immune system disease.
http://purl.obolibrary.org/obo/MONDO_0015985	obsolete bone dysplasia, Azouz type				OBSOLETE. Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.
http://purl.obolibrary.org/obo/MONDO_0016250	obsolete rare adenocarcinoma of the breast				OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0016766	obsolete rare lichen planus				OBSOLETE. Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis.
http://purl.obolibrary.org/obo/MONDO_0018132	obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies				OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
http://purl.obolibrary.org/obo/MONDO_0018186	obsolete ring chromosome				OBSOLETE. Aberrant chromosomes with no ends, i.e., circular.
http://purl.obolibrary.org/obo/MONDO_0018598	obsolete neonatal adrenoleukodystrophy				OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).
http://purl.obolibrary.org/obo/MONDO_0019062	obsolete rare infectious disease				OBSOLETE. Rare infectious disease.
http://purl.obolibrary.org/obo/MONDO_0019117	obsolete genetic nervous system disorder				OBSOLETE. An instance of nervous system disease that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0019224	obsolete inborn disorder of gamma-aminobutyric acid metabolism				OBSOLETE. An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019519	obsolete rare skin disease				OBSOLETE. Rare skin disease.
http://purl.obolibrary.org/obo/MONDO_0019592	obsolete disorder of sex development				OBSOLETE. In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
http://purl.obolibrary.org/obo/MONDO_0019721	obsolete syndromic renal or urinary tract malformation				OBSOLETE. A renal or urinary tract malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0019779	obsolete Renier-Gabreels-Jasper syndrome				OBSOLETE. Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).
http://purl.obolibrary.org/obo/MONDO_0020008	obsolete rare immune disease				OBSOLETE. Rare immune system disease.
http://purl.obolibrary.org/obo/MONDO_0020029	obsolete rare genetic cardiac disease				OBSOLETE. Rare genetic heart disease.
http://purl.obolibrary.org/obo/MONDO_0020078	obsolete acute myeloid leukemia with recurrent genetic anomaly				OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0020116	obsolete rare blood coagulation disease				OBSOLETE. Any of the forms of blood coagulation disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020224	obsolete rare cataract				OBSOLETE. Rare cataract.
http://purl.obolibrary.org/obo/MONDO_0021016	obsolete channelopathy				OBSOLETE. A disease caused by disturbed function of ion channel subunits or the proteins that regulate them.
http://purl.obolibrary.org/obo/MONDO_0010859	obsolete atrioventricular septal defect 3				OBSOLETE. Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene.
http://purl.obolibrary.org/obo/MONDO_0015089	obsolete autosomal recessive complex spastic paraplegia				OBSOLETE. Autosomal recessive form of complex hereditary spastic paraplegia.
http://purl.obolibrary.org/obo/MONDO_0015123	obsolete rare inherited dyslipidemia				OBSOLETE. Rare lipid metabolism disorder.
http://purl.obolibrary.org/obo/MONDO_0015130	obsolete acquired chronic primary adrenal insufficiency				OBSOLETE. An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0015188	obsolete metabolic disorder with intestinal involvement				OBSOLETE. A metabolic disease that involves the intestine.
http://purl.obolibrary.org/obo/MONDO_0015680	obsolete rare pervasive developmental disorder				OBSOLETE. Rare pervasive developmental disorder.
http://purl.obolibrary.org/obo/MONDO_0016109	obsolete autosomal recessive distal myopathy				OBSOLETE. Autosomal recessive form of distal myopathy.
http://purl.obolibrary.org/obo/MONDO_0016110	obsolete non-dystrophic myopathy				OBSOLETE. A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness.
http://purl.obolibrary.org/obo/MONDO_0016115	obsolete bulbospinal muscular atrophy of adulthood				OBSOLETE. A bulbospinal muscular atrophy that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0016492	obsolete beta-thalassemia with other manifestations				OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder.
http://purl.obolibrary.org/obo/MONDO_0016899	obsolete Duchenne and Becker muscular dystrophy				OBSOLETE. Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
http://purl.obolibrary.org/obo/MONDO_0017143	obsolete genetic infertility				OBSOLETE. Genetic infertility.
http://purl.obolibrary.org/obo/MONDO_0017262	obsolete inherited non-syndromic ichthyosis				OBSOLETE. A inherited ichthyosis that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0017371	obsolete rare head and neck tumor				OBSOLETE. Rare head and neck neoplasia.
http://purl.obolibrary.org/obo/MONDO_0017390	obsolete methylmalonic acidemia without homocystinuria				OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.
http://purl.obolibrary.org/obo/MONDO_0018451	obsolete X-linked distal hereditary motor neuropathy				OBSOLETE. X-linked form of distal hereditary motor neuropathy.
http://purl.obolibrary.org/obo/MONDO_0019096	obsolete rare pulmonary hypertension				OBSOLETE. Rare pulmonary hypertension.
http://purl.obolibrary.org/obo/MONDO_0019227	obsolete inborn disorder of glycerol metabolism				OBSOLETE. An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process.
http://purl.obolibrary.org/obo/MONDO_0019856	obsolete primary congenital hypothyroidism without thyroid developmental anomaly				OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal.
http://purl.obolibrary.org/obo/MONDO_0020069	obsolete chronic encephalitis				OBSOLETE. Chronic form of encephalitis.
http://purl.obolibrary.org/obo/MONDO_0020096	obsolete autosomal recessive isolated diffuse palmoplantar keratoderma				OBSOLETE. Autosomal recessive form of isolated diffuse palmoplantar keratoderma.
http://purl.obolibrary.org/obo/MONDO_0020097	obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature				OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature.
http://purl.obolibrary.org/obo/MONDO_0020174	obsolete precancerous lesion of palpebral epidermis				OBSOLETE. A precancerous condition that involves the skin of eyelid.
http://purl.obolibrary.org/obo/MONDO_0020210	obsolete syndromic hyperopia				OBSOLETE. A hyperopia that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0020269	obsolete syndromic ichthyosis associated with ocular features				OBSOLETE. A ichthyosis associated with ocular features that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0016623	obsolete rare deficiency anemia				OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0016788	obsolete genetic hyperferritinemia without iron overload				OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.
http://purl.obolibrary.org/obo/MONDO_0017150	obsolete pulmonary arterial hypertension associated with another disease				OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.
http://purl.obolibrary.org/obo/MONDO_0017151	obsolete pulmonary arterial hypertension associated with connective tissue disease				OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.
http://purl.obolibrary.org/obo/MONDO_0017152	obsolete pulmonary arterial hypertension associated with congenital heart disease				OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.
http://purl.obolibrary.org/obo/MONDO_0017153	obsolete pulmonary arterial hypertension associated with HIV infection				OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.
http://purl.obolibrary.org/obo/MONDO_0017154	obsolete pulmonary arterial hypertension associated with portal hypertension				OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.
http://purl.obolibrary.org/obo/MONDO_0017155	obsolete pulmonary arterial hypertension associated with schistosomiasis				OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis.
http://purl.obolibrary.org/obo/MONDO_0017156	obsolete pulmonary arterial hypertension associated with chronic hemolytic anemia				OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.
http://purl.obolibrary.org/obo/MONDO_0017263	obsolete inherited ichthyosis syndromic form				OBSOLETE. A inherited ichthyosis that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0017308	obsolete Marfan syndrome type 2				OBSOLETE. Hypothesized form of Marfan; dubious
http://purl.obolibrary.org/obo/MONDO_0017447	obsolete congenital absence/hypoplasia of thumb				OBSOLETE. Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.
http://purl.obolibrary.org/obo/MONDO_0017506	obsolete congenital absence/hypoplasia of thumb, unilateral				OBSOLETE. Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb.
http://purl.obolibrary.org/obo/MONDO_0017507	obsolete congenital absence/hypoplasia of thumb, bilateral				OBSOLETE. Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias.
http://purl.obolibrary.org/obo/MONDO_0017674	obsolete disease with focal palmoplantar keratoderma as a major feature				OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature..
http://purl.obolibrary.org/obo/MONDO_0017678	obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature				OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major feature..
http://purl.obolibrary.org/obo/MONDO_0017770	obsolete Robinow-like syndrome				OBSOLETE. Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.
http://purl.obolibrary.org/obo/MONDO_0017841	obsolete autoimmune disease with skin involvement				OBSOLETE. A hypersensitivity reaction type II disease that involves the skin of body.
http://purl.obolibrary.org/obo/MONDO_0017984	obsolete familial lambdoid synostosis				OBSOLETE. Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.
http://purl.obolibrary.org/obo/MONDO_0018080	obsolete rare germ cell tumor				OBSOLETE. Rare germ cell tumor.
http://purl.obolibrary.org/obo/MONDO_0018112	obsolete isolated scaphocephaly				OBSOLETE. Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.
http://purl.obolibrary.org/obo/MONDO_0018113	obsolete isolated plagiocephaly				OBSOLETE. Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.
http://purl.obolibrary.org/obo/MONDO_0018114	obsolete isolated brachycephaly				OBSOLETE. Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
http://purl.obolibrary.org/obo/MONDO_0018272	obsolete small cell carcinoma of the ovary				OBSOLETE. A small cell carcinoma that involves the ovary.
http://purl.obolibrary.org/obo/MONDO_0018497	obsolete rare autonomic nervous system disorder				OBSOLETE. Rare autonomic nervous system disease.
http://purl.obolibrary.org/obo/MONDO_0018505	obsolete rare tumor of small intestine				OBSOLETE. Any of the forms of small intestine neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0018649	obsolete cerebral visual impairment				OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information.
http://purl.obolibrary.org/obo/MONDO_0018785	obsolete nodular fasciitis				OBSOLETE. A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.
http://purl.obolibrary.org/obo/MONDO_0018791	obsolete Moyomoya angiopathy				OBSOLETE. A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels.
http://purl.obolibrary.org/obo/MONDO_0019047	obsolete rare deafness				OBSOLETE. Any of the forms of hearing loss that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0019049	obsolete rare dystonia				OBSOLETE. Rare dystonia.
http://purl.obolibrary.org/obo/MONDO_0019097	obsolete hemorrhagic disorder due to a constitutional platelet anomaly				OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth.
http://purl.obolibrary.org/obo/MONDO_0019348	obsolete Ehlers-Danlos syndrome with periventricular heterotopia				OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva.
http://purl.obolibrary.org/obo/MONDO_0019505	obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome				OBSOLETE. Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterized by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.
http://purl.obolibrary.org/obo/MONDO_0019599	obsolete primary lipodystrophy				OBSOLETE. Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).
http://purl.obolibrary.org/obo/MONDO_0020025	obsolete rare male infertility				OBSOLETE. Rare male infertility.
http://purl.obolibrary.org/obo/MONDO_0020036	obsolete rare nervous system tumor				OBSOLETE. Rare nervous system cancer.
http://purl.obolibrary.org/obo/MONDO_0020275	obsolete oculocutaneous or ocular albinism				OBSOLETE. Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism.
http://purl.obolibrary.org/obo/MONDO_0021027	obsolete genetic hair anomaly				OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0021028	obsolete genetic nail anomaly				OBSOLETE. An instance of nail anomaly that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0021044	obsolete Wilms tumor				OBSOLETE. An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.
http://purl.obolibrary.org/obo/MONDO_0024236	obsolete degenerative disorder				OBSOLETE. A disorder characterized by the progressive loss of function and/or structure of the affected tissues.
http://purl.obolibrary.org/obo/MONDO_0024583	obsolete hernia				OBSOLETE. The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.
http://purl.obolibrary.org/obo/MONDO_0100117	obsolete familial sudden death				OBSOLETE. An instance of sudden cardiac death that is caused by an inherited genomic modification in an individual.
http://purl.obolibrary.org/obo/MONDO_0021178	injury				Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.
http://purl.obolibrary.org/obo/CL_0000473	OBSOLETE defensive cell				OBSOLETE: A cell whose primary function is to protect the organism.
http://purl.obolibrary.org/obo/CL_0000548	obsolete animal cell				OBSOLETE. A native cell that is part of some Metazoa.
http://purl.obolibrary.org/obo/CL_0010003	obsolete epithelial cell of alveolus of lung				OBSOLETE. An epithelial cell that is part_of a alveolus of lung.
http://purl.obolibrary.org/obo/RO_0002310	obsolete exposure event or process				OBSOLETE A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism.
http://purl.obolibrary.org/obo/MONDO_0001494	obsolete transvestism				OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing.
http://purl.obolibrary.org/obo/MONDO_0015116	obsolete rare biliary tract disease				OBSOLETE. Rare biliary tract disease.
http://purl.obolibrary.org/obo/MONDO_0015125	obsolete rare thyroid disease				OBSOLETE. Rare thyroid disease.
http://purl.obolibrary.org/obo/MONDO_0015507	obsolete rare genetic hepatic disease				OBSOLETE. Rare genetic liver disease.
http://purl.obolibrary.org/obo/MONDO_0015513	obsolete rare genetic endocrine disease				OBSOLETE. A form of endocrine system disease that is both rare and inborn.
http://purl.obolibrary.org/obo/MONDO_0015576	obsolete rare viral disease				OBSOLETE. Rare viral disease.
http://purl.obolibrary.org/obo/MONDO_0015673	obsolete rare cardiac tumor				OBSOLETE. Any of the forms of heart neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015958	obsolete rare genetic bone disease				OBSOLETE. Rare genetic bone disease.
http://purl.obolibrary.org/obo/MONDO_0016274	obsolete rare cancer of cervix uteri				OBSOLETE. Rare cervical cancer.
http://purl.obolibrary.org/obo/MONDO_0016517	obsolete rare genetic vascular disease				OBSOLETE. Rare genetic vascular disease.
http://purl.obolibrary.org/obo/MONDO_0017127	obsolete inherited soft tissue tumor				OBSOLETE. An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0017129	obsolete inherited cardiac tumor				OBSOLETE. An instance of heart cancer that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018928	obsolete rare hepatic disease				OBSOLETE. Rare liver disease.
http://purl.obolibrary.org/obo/MONDO_0019048	obsolete rare vascular disease				OBSOLETE. Any of the forms of vascular disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0019750	obsolete rare renal disease				OBSOLETE. Any of the forms of urinary system disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0019996	obsolete rare cardiac disease				OBSOLETE. Rare heart disease.
http://purl.obolibrary.org/obo/MONDO_0020000	obsolete rare respiratory disease				OBSOLETE. Rare respiratory system disease.
http://purl.obolibrary.org/obo/MONDO_0020004	obsolete rare eye disease				OBSOLETE. Rare eye disease.
http://purl.obolibrary.org/obo/MONDO_0020005	obsolete rare endocrine disease				OBSOLETE. Rare endocrine system disease.
http://purl.obolibrary.org/obo/MONDO_0020009	obsolete rare neurologic disease				OBSOLETE. Rare nervous system disease.
http://purl.obolibrary.org/obo/MONDO_0020015	obsolete rare circulatory system disease				OBSOLETE. A rare form of cardiovascular disease.
http://purl.obolibrary.org/obo/MONDO_0020126	obsolete rare peripheral neuropathy				OBSOLETE. Rare peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0015052	obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies				OBSOLETE. Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.
http://purl.obolibrary.org/obo/MONDO_0015076	obsolete rare parathyroid tumor				OBSOLETE. Any of the forms of tumor of parathyroid gland that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015088	obsolete autosomal dominant pure spastic paraplegia				OBSOLETE. Autosomal dominant form of pure hereditary spastic paraplegia.
http://purl.obolibrary.org/obo/MONDO_0015090	obsolete autosomal recessive pure spastic paraplegia				OBSOLETE. Autosomal recessive form of pure hereditary spastic paraplegia.
http://purl.obolibrary.org/obo/MONDO_0015586	obsolete benign familial mesial temporal lobe epilepsy				OBSOLETE. Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.
http://purl.obolibrary.org/obo/MONDO_0016355	obsolete semilobar holoprosencephaly				OBSOLETE. Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
http://purl.obolibrary.org/obo/MONDO_0016363	obsolete rare hereditary hemochromatosis				OBSOLETE. Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease.
http://purl.obolibrary.org/obo/MONDO_0016536	obsolete autosomal recessive lymphoproliferative disease				OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.
http://purl.obolibrary.org/obo/MONDO_0016578	obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies				OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.
http://purl.obolibrary.org/obo/MONDO_0016599	obsolete autosomal dominant secondary polycythemia				OBSOLETE. Autosomal dominant form of secondary polycythemia.
http://purl.obolibrary.org/obo/MONDO_0016634	obsolete thrombotic disorder due to an acquired coagulation factors defect				OBSOLETE. An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0017173	obsolete non-syndromic male infertility due to sperm motility disorder				OBSOLETE. Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.
http://purl.obolibrary.org/obo/MONDO_0017218	obsolete septopreoptic holoprosencephaly				OBSOLETE. Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.
http://purl.obolibrary.org/obo/MONDO_0017241	obsolete AP4-related intellectual disability and spastic paraplegia				OBSOLETE. A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene.
http://purl.obolibrary.org/obo/MONDO_0017898	obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency				OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency.
http://purl.obolibrary.org/obo/MONDO_0018384	obsolete avascular necrosis of genetic origin				OBSOLETE. An instance of avascular necrosis that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018405	obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin				OBSOLETE. An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018411	obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin				OBSOLETE. An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018501	obsolete rare carcinoma of stomach				OBSOLETE. Rare stomach carcinoma.
http://purl.obolibrary.org/obo/MONDO_0019758	obsolete midline interhemispheric variant of holoprosencephaly				OBSOLETE. Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.
http://purl.obolibrary.org/obo/MONDO_0020101	obsolete constitutional hemolytic anemia due to membrane defect				OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.
http://purl.obolibrary.org/obo/MONDO_0020207	obsolete rare isolated myopia				OBSOLETE. Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.
http://purl.obolibrary.org/obo/MONDO_0025517	obsolete shrimp allergy				OBSOLETE. A allergic disease involving a shrimp food product.
http://purl.obolibrary.org/obo/MONDO_0020578	obsolete vitamin D deficiency				OBSOLETE. Abnormally low level of 25-hydroxyvitamin D in the blood.
http://purl.obolibrary.org/obo/MONDO_0020595	obsolete disorder of retroperitoneum				OBSOLETE. A disease or disorder that involves the retroperitoneal space.
http://purl.obolibrary.org/obo/MONDO_0100318	obsolete SARS-CoV-2-related disease				OBSOLETE. A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease.
http://purl.obolibrary.org/obo/MONDO_0100321	obsolete viral disease or post-viral disorder				OBSOLETE. A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself.
http://purl.obolibrary.org/obo/CHEBI_36342	subatomic particle				A particle smaller than an atom.
http://purl.obolibrary.org/obo/MONDO_0040797	obsolete vascular headache				OBSOLETE. An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS).
http://purl.obolibrary.org/obo/MONDO_0021690	obsolete congenital left ventricular aneurysm				OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055]
http://purl.obolibrary.org/obo/MONDO_0024505	obsolete disorder by anatomical region				OBSOLETE. A broad grouping of diseases based on major body subdivisions.
http://purl.obolibrary.org/obo/MONDO_0100030	obsolete adolescent/adult-onset epilepsy syndrome				OBSOLETE. An epilepsy syndrome that has an onset during the adolescent or adult stage of life.
http://purl.obolibrary.org/obo/MONDO_0021683	obsolete transmissible disease				OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process.
http://purl.obolibrary.org/obo/MONDO_0022575	obsolete biliary hypoplasia				OBSOLETE. A syndromic disease characterized by a small ductal system and reduction in the number of interlobular bile ducts.
http://purl.obolibrary.org/obo/MONDO_0022577	obsolete Billet Bear syndrome				OBSOLETE. A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations.
http://purl.obolibrary.org/obo/MONDO_0022900	obsolete athyreotic congenital hypothyroidism				OBSOLETE. Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)
http://purl.obolibrary.org/obo/MONDO_0022918	obsolete cytokine deficiency				OBSOLETE. A disease that has its basis in the disruption of cytokine activity.
http://purl.obolibrary.org/obo/MONDO_0100336	obsolete infectious disease or post-infectious disorder				OBSOLETE. A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself.
http://purl.obolibrary.org/obo/FOODON_03420167	fruit part				The fleshy fruit of any plant. *FRUIT* includes vegetables berries and pods as well. The bulk of a fruit is its fleshy part, which is covered by a peel (skin) and which encloses a core, pit or seeds.
http://purl.obolibrary.org/obo/FOODON_03420174	obsolete: part of plant				Anatomical part of a plant, such as fruit, seed, pod, leaf, stem or flower as well as the whole plant.
http://purl.obolibrary.org/obo/FOODON_00002381	obsolete: food material by organism				Food material which is distinguished primarily by the organism(s) it derives from.
http://purl.obolibrary.org/obo/MONDO_0100136	obsolete Fanconia anemia complementation group M				OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene.
http://purl.obolibrary.org/obo/MONDO_0100145	obsolete presymptomatic COVID-19 infection				OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on.
http://purl.obolibrary.org/obo/MONDO_0029051	obsolete autosomal recessive nail dysplasia				OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654]
http://purl.obolibrary.org/obo/MONDO_0032011	obsolete biological anomaly				OBSOLETE. A disorder defined by a set of physiological abnormalities without clearly associated clinical manifestations. [Orphanet:377790]
http://purl.obolibrary.org/obo/MONDO_0032013	obsolete clinical syndrome				OBSOLETE. A disorder with homogeneous therapeutic possibilities, regardless of the pathophysiological mechanism involved.
http://purl.obolibrary.org/obo/MONDO_0032014	obsolete particular clinical situation in a disease or syndrome				OBSOLETE. A set of phenotypic abnormalities presenting in a subset of patients under particular circumstances.
http://purl.obolibrary.org/obo/MONDO_0034028	obsolete symptomatic form of hemochromatosis type 1				OBSOLETE. Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0034733	obsolete cochlear nerve deficiency				OBSOLETE. A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. [Orphanet:502318]
http://purl.obolibrary.org/obo/MONDO_0034819	obsolete familial intestinal malrotation				OBSOLETE. A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.
http://purl.obolibrary.org/obo/MONDO_0034977	obsolete isolated microspherophakia				OBSOLETE. A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.
http://purl.obolibrary.org/obo/MONDO_0034979	obsolete peripapillary staphyloma				OBSOLETE. A rare congenital optic disk excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disk. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. [Orphanet:519400]
http://purl.obolibrary.org/obo/MONDO_0034980	obsolete isolated megalopapilla				OBSOLETE. A rare ophthalmic disorder characterized by an abnormally large optic disk (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disk, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.
http://purl.obolibrary.org/obo/MONDO_0034981	obsolete optic disk pit				OBSOLETE. A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disk. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disk, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. [Orphanet:519404]
http://purl.obolibrary.org/obo/MONDO_0035249	obsolete anomalous aortic origin of the left coronary artery				OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia. [Orphanet:541443]
http://purl.obolibrary.org/obo/MONDO_0035250	obsolete anomalous aortic origin of the right coronary artery				OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present. [Orphanet:541454]
http://purl.obolibrary.org/obo/MONDO_0035251	obsolete anomalous aortic origin of coronary artery				OBSOLETE. A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed. [Orphanet:541478]
http://purl.obolibrary.org/obo/MONDO_0035252	obsolete anomalous origin of coronary artery from the pulmonary artery				OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed. [Orphanet:541507]
http://purl.obolibrary.org/obo/MONDO_0035267	obsolete quadricuspid aortic valve				OBSOLETE. A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom. [Orphanet:542568]
http://purl.obolibrary.org/obo/MONDO_0035274	obsolete anomaly of the coronary ostia				OBSOLETE. A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia. [Orphanet:542822]
http://purl.obolibrary.org/obo/MONDO_0035314	obsolete congenital tricuspid valve dysplasia				OBSOLETE. A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur. [Orphanet:555874]
http://purl.obolibrary.org/obo/MONDO_0035448	obsolete aprosencephaly/atelencephaly spectrum				OBSOLETE. A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. [Orphanet:566847]
http://purl.obolibrary.org/obo/MONDO_0035581	obsolete lethal brain and heart developmental defects				OBSOLETE. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. [Orphanet:580933]
http://purl.obolibrary.org/obo/MONDO_0043008	obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability				OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0100139	obsolete asymptomatic COVID-19 infection				OBSOLETE. A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease.
http://purl.obolibrary.org/obo/MONDO_0100140	obsolete mild COVID-19 infection				OBSOLETE. A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging.
http://purl.obolibrary.org/obo/MONDO_0100141	obsolete moderate COVID-19 infection				OBSOLETE. A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level.
http://purl.obolibrary.org/obo/MONDO_0100142	obsolete severe COVID-19 infection				OBSOLETE. A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%.
http://purl.obolibrary.org/obo/MONDO_0100143	obsolete critical COVID-19 infection				OBSOLETE. A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction.
http://purl.obolibrary.org/obo/MONDO_0100189	obsolete apolipoprotein A-I deficiency				OBSOLETE. A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
http://purl.obolibrary.org/obo/MONDO_0020802	obsolete basal cell cancer				OBSOLETE. A neoplasm composed of basal cells that metastasizes to other anatomic sites.
http://purl.obolibrary.org/obo/MONDO_0800075	obsolete dysostosis with predominant vertebral with and without costal involvement				OBSOLETE. Any dysostosis that involves the vertebrae, with or without involvement of the the ribs or the upper sides of the body.
http://purl.obolibrary.org/obo/MONDO_0021194	obsolete disease by subcellular system affected				OBSOLETE. A grouping of diseases based on molecular activity, cellular process or subcellular component.
http://purl.obolibrary.org/obo/MONDO_0024624	obsolete atrophy of lacrimal gland				OBSOLETE. A degenerative disorder that involves the lacrimal gland.
http://purl.obolibrary.org/obo/MONDO_0025481	obsolete zoonosis				OBSOLETE. An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc).
http://purl.obolibrary.org/obo/MONDO_0025511	obsolete inherited neuroendocrine tumor				OBSOLETE. An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0025518	obsolete aspirin allergy				OBSOLETE. A allergic disease involving a acetylsalicylic acid.
http://purl.obolibrary.org/obo/MONDO_0036491	obsolete rare childhood malignant neoplasm				OBSOLETE. An infrequent malignant neoplasm that occurs during childhood.
http://purl.obolibrary.org/obo/MONDO_0041161	obsolete endometrial hyperplasia				OBSOLETE. A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).
http://purl.obolibrary.org/obo/MONDO_0043707	obsolete mediastinal disorder				OBSOLETE. A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma.
http://purl.obolibrary.org/obo/MONDO_0043881	obsolete acute eosinophilic leukemia				OBSOLETE. A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)
http://purl.obolibrary.org/obo/MONDO_0044746	obsolete zoonotic bacterial infection				OBSOLETE. A bacterial infection that is transmitted from animals to people.
http://purl.obolibrary.org/obo/MONDO_0044965	obsolete abdominal and pelvic region disorder				OBSOLETE. A disease or disorder that involves the abdominal segment of trunk.
http://purl.obolibrary.org/obo/MONDO_0044967	obsolete limb disorder				OBSOLETE. A disease or disorder that involves the limb.
http://purl.obolibrary.org/obo/MONDO_0044987	obsolete face disorder				OBSOLETE. A disease or disorder that involves the face.
http://purl.obolibrary.org/obo/MONDO_0044988	obsolete hip region disorder				OBSOLETE. A disease or disorder that involves the hip.
http://purl.obolibrary.org/obo/MONDO_0044989	obsolete foot disorder				OBSOLETE. A disease or disorder that involves the pes.
http://purl.obolibrary.org/obo/MONDO_0044990	obsolete hand disorder				OBSOLETE. A disease or disorder that involves the manus.
http://purl.obolibrary.org/obo/MONDO_0044998	obsolete carpal region disorder				OBSOLETE. A disease or disorder that involves the carpal region.
http://purl.obolibrary.org/obo/MONDO_0044999	obsolete scalp disorder				OBSOLETE. A disease or disorder that involves the scalp.
http://purl.obolibrary.org/obo/MONDO_0009317	obsolete nonphotosensitive trichothiodystrophy				OBSOLETE. A trichothiodystrophy that is non-photosensitive
http://purl.obolibrary.org/obo/MONDO_0020803	obsolete bundle branch block				OBSOLETE. A defect of the bundle branches or fascicles in the electrical conduction system of the heart.
http://purl.obolibrary.org/obo/MONDO_0100343	obsolete antenatal Bartter syndrome				OBSOLETE. A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome.
http://purl.obolibrary.org/obo/FOODON_03411564	obsolete: organism by alternate grouping				This is a hierarchy of organisms, grouped minimally in a combination of taxonomy and consumer-oriented food groups.
http://purl.obolibrary.org/obo/MAXO_0000001	medical action				A clinically prescribed procedure, therapy, intervention, or recommendation.
http://purl.obolibrary.org/obo/HP_0500267	obsolete Abnormal proportion of CD4-positive helper T cells				An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.
http://purl.obolibrary.org/obo/MONDO_0034024	obsolete kyphoscoliotic Ehlers-Danlos syndrome				OBSOLETE. A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.
http://purl.obolibrary.org/obo/MONDO_0100106	obsolete neonatal epileptic encephalopathy				OBSOLETE. A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death.
http://purl.obolibrary.org/obo/MONDO_0100229	obsolete Heimler syndrome				OBSOLETE. A peroxisoome biogenesis disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes.
http://purl.obolibrary.org/obo/MONDO_0015110	obsolete genetic cardiac rhythm disease				OBSOLETE. An instance of cardiac rhythm disease that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0015121	obsolete rare eye tumor				OBSOLETE. Any of the forms of eye neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015141	obsolete disorder of medulla oblongata				OBSOLETE. A disease that involves the medulla oblongata.
http://purl.obolibrary.org/obo/MONDO_0015215	obsolete non-syndromic diaphragmatic or abdominal wall malformation				OBSOLETE. A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015217	obsolete non-syndromic developmental defect of the eye				OBSOLETE. A developmental defect of the eye that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015218	obsolete syndromic developmental defect of the eye				OBSOLETE. A developmental defect of the eye that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015246	obsolete syndromic anorectal malformation				OBSOLETE. A anorectal malformation that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015509	obsolete hereditary biliary tract disease				OBSOLETE. Genetic biliary tract disease.
http://purl.obolibrary.org/obo/MONDO_0015512	obsolete genetic hypertension				OBSOLETE. An instance of hypertension that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0015575	obsolete rare bacterial infectious disease				OBSOLETE. Rare bacterial infectious disease.
http://purl.obolibrary.org/obo/MONDO_0015577	obsolete rare parasitic disease				OBSOLETE. Any of the forms of parasitic infection that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015578	obsolete rare mycosis				OBSOLETE. Rare fungal infectious disease.
http://purl.obolibrary.org/obo/MONDO_0015582	obsolete rare disorder related with pregnancy, childbirth and puerperium				OBSOLETE. Any of the forms of pregnancy disorder that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015870	obsolete rare malignant breast tumor				OBSOLETE. Any of the forms of breast cancer that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015933	obsolete non-syndromic urogenital tract malformation of male				OBSOLETE. A non-syndromic urogenital tract malformation that involves the male organism.
http://purl.obolibrary.org/obo/MONDO_0015940	obsolete rare rheumatologic disease				OBSOLETE. Any of the forms of rheumatologic disorder that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015945	obsolete polymalformative genetic syndrome with increased risk of developing cancer				OBSOLETE. Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
http://purl.obolibrary.org/obo/MONDO_0016104	obsolete infectious disease with peripheral neuropathy				OBSOLETE. An infectious process affecting the peripheral nerves.
http://purl.obolibrary.org/obo/MONDO_0016228	obsolete rare vascular tumor				OBSOLETE. Any of the forms of vascular neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0016229	obsolete hereditary vascular anomaly				OBSOLETE. An instance of vascular anomaly that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0016234	obsolete rare arteriovenous malformation				OBSOLETE. Rare arteriovenous malformation.
http://purl.obolibrary.org/obo/MONDO_0016520	obsolete isolated Klippel-Feil syndrome				OBSOLETE. Klippel-Feil Syndrome is characterized by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.
http://purl.obolibrary.org/obo/MONDO_0017667	obsolete isolated diffuse palmoplantar keratoderma				OBSOLETE. A diffuse palmoplantar keratoderma that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0017673	obsolete isolated focal palmoplantar keratoderma				OBSOLETE. A focal palmoplantar keratoderma that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0017797	obsolete rare odontologic tumor				OBSOLETE. Any of the forms of odontogenic neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0018393	obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation				OBSOLETE. Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
http://purl.obolibrary.org/obo/MONDO_0018454	obsolete dysostosis of genetic origin				OBSOLETE. An instance of dysostosis that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018729	obsolete genetic vascular tumor				OBSOLETE. An instance of rare vascular tumor that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018730	obsolete rare genetic venous malformation				OBSOLETE. An instance of rare venous malformation that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0018771	obsolete congenital anomaly of ventricular septum				OBSOLETE. A congenital heart malformation that involves the interventricular septum.
http://purl.obolibrary.org/obo/MONDO_0018916	obsolete isolated anorectal malformation				OBSOLETE. Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.
http://purl.obolibrary.org/obo/MONDO_0019066	obsolete syndrome with brachydactyly				OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.
http://purl.obolibrary.org/obo/MONDO_0019150	obsolete familial isolated restrictive cardiomyopathy				OBSOLETE. Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.
http://purl.obolibrary.org/obo/MONDO_0019285	obsolete syndromic nail anomaly				OBSOLETE. A nail anomaly that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0019684	obsolete rare bone disease				OBSOLETE. Rare bone disease.
http://purl.obolibrary.org/obo/MONDO_0019724	obsolete secondary glomerular disease				OBSOLETE. Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established.
http://purl.obolibrary.org/obo/MONDO_0019749	obsolete rare renal tumor				OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020011	obsolete rare headache disorder				OBSOLETE. Rare headache disorder.
http://purl.obolibrary.org/obo/MONDO_0020017	obsolete rare otorhinolaryngologic disease				OBSOLETE. Any of the forms of otorhinolaryngologic disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020027	obsolete rare allergic disease				OBSOLETE. Rare allergic hypersensitivity disease.
http://purl.obolibrary.org/obo/MONDO_0020031	obsolete rare tumor				OBSOLETE. Rare disease of cellular proliferation.
http://purl.obolibrary.org/obo/MONDO_0020094	obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature				OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature.
http://purl.obolibrary.org/obo/MONDO_0020125	obsolete acquired neuromuscular junction disease				OBSOLETE. An instance of neuromuscular junction disease that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0020148	obsolete syndromic aniridia				OBSOLETE. A aniridia that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0020215	obsolete syndromic corneal dystrophy				OBSOLETE. A corneal dystrophy (disease) that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0020225	obsolete syndromic cataract				OBSOLETE. A cataract (disease) that is part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0020236	obsolete lens position anomaly				OBSOLETE. Partial or complete displacement of the crystalline lens from its normal position in the eye.
http://purl.obolibrary.org/obo/MONDO_0021034	obsolete hereditary alopecia				OBSOLETE. An instance of alopecia that is caused by a modification of the individual's genome.
http://purl.obolibrary.org/obo/MONDO_0014424	obsolete congenital deficiency in alpha-fetoprotein				OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
http://purl.obolibrary.org/obo/MONDO_0014425	obsolete hereditary persistence of alpha-fetoprotein				OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy
http://purl.obolibrary.org/obo/MONDO_0014783	obsolete preimplantation embryonic lethality 1				OBSOLETE. Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene.
http://purl.obolibrary.org/obo/MONDO_0015108	obsolete rare non-syndromic intellectual disability				OBSOLETE. Rare non-syndromic intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0015117	obsolete rare hepatic and biliary tract tumor				OBSOLETE. Any of the forms of hepatobiliary neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015122	obsolete rare diabetes mellitus				OBSOLETE. Rare diabetes mellitus.
http://purl.obolibrary.org/obo/MONDO_0015139	obsolete rare epilepsy				OBSOLETE. Rare epilepsy.
http://purl.obolibrary.org/obo/MONDO_0015143	obsolete rare movement disorder				OBSOLETE. Rare movement disorder.
http://purl.obolibrary.org/obo/MONDO_0015162	obsolete rare syndromic intellectual disability				OBSOLETE. Rare syndromic intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0015172	obsolete epithelio-exfoliative colitis-deafness syndrome				OBSOLETE. This syndrome is characterized by the association of severe congenital colitis with sensorineural deafness.
http://purl.obolibrary.org/obo/MONDO_0015186	obsolete rare tumor of intestine				OBSOLETE. Rare intestinal neoplasm.
http://purl.obolibrary.org/obo/MONDO_0015189	obsolete adenocarcinoma of small instestine				OBSOLETE. An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.
http://purl.obolibrary.org/obo/MONDO_0015219	obsolete non-syndromic central nervous system malformation				OBSOLETE. A central nervous system malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015224	obsolete rare intoxication				OBSOLETE. Any of the forms of poisoning that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015305	obsolete rare endometriosis				OBSOLETE. Rare endometriosis.
http://purl.obolibrary.org/obo/MONDO_0015328	obsolete rare bone development disorder				OBSOLETE. Any of the forms of bone development disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015343	obsolete secondary acute transverse myelitis				OBSOLETE. Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.
http://purl.obolibrary.org/obo/MONDO_0015422	obsolete orofaciodigital syndrome type 13				OBSOLETE. Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.
http://purl.obolibrary.org/obo/MONDO_0015619	obsolete non-syndromic urogenital tract malformation				OBSOLETE. A urogenital tract malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015668	obsolete hereditary dentin defect				OBSOLETE. The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.
http://purl.obolibrary.org/obo/MONDO_0015777	obsolete adult hypothyroidism				OBSOLETE. A hypothyroidism that occurs in an adult.
http://purl.obolibrary.org/obo/MONDO_0015829	obsolete non-syndromic uterovaginal malformation				OBSOLETE. A uterovaginal malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0015868	obsolete rare breast tumor				OBSOLETE. Any of the forms of breast neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015869	obsolete rare benign breast tumor				OBSOLETE. Any of the forms of breast benign neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015881	obsolete gastroesophageal tumor				OBSOLETE. A tumor involving the gastroesophageal tissue.
http://purl.obolibrary.org/obo/MONDO_0015882	obsolete rare tumor of pancreas				OBSOLETE. Any of the forms of pancreatic neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015896	obsolete rare hypoparathyroidism				OBSOLETE. Rare hypoparathyroidism.
http://purl.obolibrary.org/obo/MONDO_0015897	obsolete rare hyperparathyroidism				OBSOLETE. Rare hyperparathyroidism.
http://purl.obolibrary.org/obo/MONDO_0015899	obsolete rare primary hyperaldosteronism				OBSOLETE. Any of the forms of primary aldosteronism that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0015911	obsolete rare acquired hemolytic anemia				OBSOLETE. Hemolytic anemia, the cause of which is not present at birth.
http://purl.obolibrary.org/obo/MONDO_0015932	obsolete non-syndromic urogenital tract malformation of female				OBSOLETE. A non-syndromic urogenital tract malformation that involves the female organism.
http://purl.obolibrary.org/obo/MONDO_0015936	obsolete rare tumor of endocrine glands				OBSOLETE. A rare tumor that involves the endocrine gland.
http://purl.obolibrary.org/obo/MONDO_0015972	obsolete rare constitutional anemia				OBSOLETE. A form of anemia (disease) that is both rare and inborn.
http://purl.obolibrary.org/obo/MONDO_0015982	obsolete rare genetic intellectual disability				OBSOLETE. Rare genetic intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0016169	obsolete chronic acquired demyelinating polyneuropathy				OBSOLETE. Chronic form of acquired peripheral neuropathy.
http://purl.obolibrary.org/obo/MONDO_0016172	obsolete acquired sensory ganglionopathy				OBSOLETE. An instance of sensory ganglionopathy that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0016252	obsolete rare uterine cancer				OBSOLETE. Rare uterine cancer.
http://purl.obolibrary.org/obo/MONDO_0016278	obsolete carcinosarcoma of the cervix uteri				OBSOLETE. Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, gray to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.
http://purl.obolibrary.org/obo/MONDO_0016279	obsolete adenosarcoma of the cervix uteri				OBSOLETE. Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.
http://purl.obolibrary.org/obo/MONDO_0016314	obsolete rare carcinoma of pancreas				OBSOLETE. Rare pancreatic carcinoma.
http://purl.obolibrary.org/obo/MONDO_0016347	obsolete rare cardiac rhythm disease				OBSOLETE. A rare form of cardiac rhythm disease.
http://purl.obolibrary.org/obo/MONDO_0016409	obsolete primary congenital hypothyroidism				OBSOLETE. Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.
http://purl.obolibrary.org/obo/MONDO_0016434	obsolete acquired dermis elastic tissue disorder				OBSOLETE. An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual.
http://purl.obolibrary.org/obo/MONDO_0016488	obsolete beta-thalassemia associated with another hemoglobin anomaly				OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ].
http://purl.obolibrary.org/obo/MONDO_0016507	obsolete rare surgically correctable form of primary aldosteronism				OBSOLETE. Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.
http://purl.obolibrary.org/obo/MONDO_0016647	obsolete autosomal recessive Stickler syndrome				OBSOLETE. A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.
http://purl.obolibrary.org/obo/MONDO_0016679	obsolete rare tumor of neuroepithelial tissue				OBSOLETE. Any of the forms of neuroepithelial neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0017629	obsolete sodium channelopathy-related small fiber neuropathy				OBSOLETE. A rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.
http://purl.obolibrary.org/obo/MONDO_0017632	obsolete rare tumor of liver and intrahepatic biliary tract				OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0017897	obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency				OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.
http://purl.obolibrary.org/obo/MONDO_0017899	obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency				OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).
http://purl.obolibrary.org/obo/MONDO_0018508	obsolete rare carcinoma of small intestine				OBSOLETE. Any of the forms of small intestine carcinoma that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0018512	obsolete rare epithelial tumor of colon				OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0018514	obsolete rare epithelial tumor of rectum				OBSOLETE. Any of the forms of epithelial neoplasm of rectum that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0018745	obsolete superficial pemphigus				OBSOLETE. Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants.
http://purl.obolibrary.org/obo/MONDO_0018799	obsolete rare hypercholesterolemia				OBSOLETE. Rare hypercholesterolemia.
http://purl.obolibrary.org/obo/MONDO_0018887	obsolete rare cutaneous lupus erythematosus				OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).
http://purl.obolibrary.org/obo/MONDO_0019491	obsolete rare intellectual disability				OBSOLETE. Rare intellectual disability.
http://purl.obolibrary.org/obo/MONDO_0019515	obsolete rare dementia				OBSOLETE. Rare dementia.
http://purl.obolibrary.org/obo/MONDO_0019597	obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency				OBSOLETE. 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
http://purl.obolibrary.org/obo/MONDO_0019720	obsolete non-syndromic renal or urinary tract malformation				OBSOLETE. A renal or urinary tract malformation that is not part of a larger syndrome.
http://purl.obolibrary.org/obo/MONDO_0019800	obsolete chronic hepatic porphyria				OBSOLETE. Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare).
http://purl.obolibrary.org/obo/MONDO_0020026	obsolete rare female infertility				OBSOLETE. Rare female infertility.
http://purl.obolibrary.org/obo/MONDO_0020028	obsolete rare allergic respiratory disease				OBSOLETE. Rare respiratory allergy.
http://purl.obolibrary.org/obo/MONDO_0020033	obsolete rare digestive tumor				OBSOLETE. Any of the forms of digestive system neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020034	obsolete rare respiratory tract neoplasm				OBSOLETE. Any of the forms of respiratory tract neoplasm that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020100	obsolete rare hemolytic anemia				OBSOLETE. Rare hemolytic anemia.
http://purl.obolibrary.org/obo/MONDO_0021059	obsolete head or neck disorder/disorder				OBSOLETE. Any disease or disorder affecting the head and/or neck region.
http://purl.obolibrary.org/obo/MONDO_0021199	obsolete disease by anatomical system				OBSOLETE. A disease that disrupts the functioning of an organ system.
http://purl.obolibrary.org/obo/MONDO_0021200	obsolete rare disease				OBSOLETE. Any of the forms of disease that have a rare incidence.
http://purl.obolibrary.org/obo/MONDO_0020591	obsolete disorder of peritoneum				OBSOLETE. A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.
http://purl.obolibrary.org/obo/MONDO_0022794	obsolete chromosome 8 deletion				OBSOLETE. A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8.
http://purl.obolibrary.org/obo/MONDO_0023873	obsolete Noonan-like/multiple giant cell lesion syndrome				OBSOLETE. Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure.
http://purl.obolibrary.org/obo/MONDO_0850093	obsolete absence epilepsy				OBSOLETE. An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.
http://purl.obolibrary.org/obo/MONDO_0006168	obsolete common hematopoietic neoplasm				
http://purl.obolibrary.org/obo/MONDO_0006177	obsolete cutaneous undifferentiated pleomorphic sarcoma				
http://purl.obolibrary.org/obo/MONDO_0006204	obsolete extramammary Paget disease				
http://purl.obolibrary.org/obo/MONDO_0006251	obsolete inclusion body fibromatosis				
http://purl.obolibrary.org/obo/MONDO_0006269	obsolete liver inflammatory myofibroblastic tumor				
http://purl.obolibrary.org/obo/MONDO_0006289	obsolete malignant epitheloid mesothelioma				
http://purl.obolibrary.org/obo/MONDO_0006293	obsolete malignant mixed neoplasm				
http://purl.obolibrary.org/obo/MONDO_0006299	obsolete mediastinal neuroblastoma				
http://purl.obolibrary.org/obo/MONDO_0006310	obsolete mucinuos carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006315	obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm				
http://purl.obolibrary.org/obo/MONDO_0006333	obsolete ovarian dysgerminoma				
http://purl.obolibrary.org/obo/MONDO_0006338	obsolete ovarian germ cell tumor				
http://purl.obolibrary.org/obo/MONDO_0006361	obsolete penile fibromatosis				
http://purl.obolibrary.org/obo/MONDO_0006379	obsolete pleural mesothelioma				
http://purl.obolibrary.org/obo/MONDO_0006399	obsolete rhabdoid tumor of the kidney				
http://purl.obolibrary.org/obo/MONDO_0006425	obsolete spinal chordoma				
http://purl.obolibrary.org/obo/MONDO_0006433	obsolete subcutaneous panniculitis-like T-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0006439	obsolete syringocystadenoma papilliferum				
http://purl.obolibrary.org/obo/MONDO_0006440	obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease				
http://purl.obolibrary.org/obo/MONDO_0006441	obsolete T-cell prolymphocytic leukemia				
http://purl.obolibrary.org/obo/MONDO_0006443	obsolete tenosynovial giant cell tumor				
http://purl.obolibrary.org/obo/MONDO_0006448	obsolete testicular teratoma (disease)				
http://purl.obolibrary.org/obo/MONDO_0006461	obsolete thyroid gland carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006465	obsolete thyroid gland oncocytic follicular carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006495	obsolete marginal zone B-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0006501	obsolete inflammatory skin disease				
http://purl.obolibrary.org/obo/MONDO_0006518	obsolete sporadic Creutzfeld Jacob disease				
http://purl.obolibrary.org/obo/MONDO_0006529	obsolete bullous skin disease				
http://purl.obolibrary.org/obo/MONDO_0006535	obsolete cicatricial pemphigoid				
http://purl.obolibrary.org/obo/MONDO_0006538	obsolete dermatitis herpetiformis				
http://purl.obolibrary.org/obo/MONDO_0006562	obsolete incontinentia pigmenti achromians				
http://purl.obolibrary.org/obo/MONDO_0006587	obsolete nodular nonsuppurative panniculitis				
http://purl.obolibrary.org/obo/MONDO_0006588	obsolete nonepidermolytic palmoplantar keratoderma				
http://purl.obolibrary.org/obo/MONDO_0006600	obsolete pigmentation disease				
http://purl.obolibrary.org/obo/MONDO_0006623	obsolete autoimmune pancreatitis type 1				
http://purl.obolibrary.org/obo/MONDO_0006628	obsolete Sezary disease				
http://purl.obolibrary.org/obo/MONDO_0006657	obsolete apparent mineralocorticoid excess syndrome				
http://purl.obolibrary.org/obo/MONDO_0006661	obsolete ascorbic acid deficiency				
http://purl.obolibrary.org/obo/MONDO_0006667	obsolete B- and T-cell mixed leukemia				
http://purl.obolibrary.org/obo/MONDO_0006675	obsolete benign monoclonal gammopathy				
http://purl.obolibrary.org/obo/MONDO_0006689	obsolete carcinoid syndrome				
http://purl.obolibrary.org/obo/MONDO_0006691	obsolete causalgia				
http://purl.obolibrary.org/obo/MONDO_0006697	obsolete Chlamydophila infectious disease				
http://purl.obolibrary.org/obo/MONDO_0006703	obsolete chronic interstitial cystitis				
http://purl.obolibrary.org/obo/MONDO_0006707	obsolete MONDO:0006707				
http://purl.obolibrary.org/obo/MONDO_0006719	obsolete cystic lymphangioma				
http://purl.obolibrary.org/obo/MONDO_0006725	obsolete diabetic angiopathy				
http://purl.obolibrary.org/obo/MONDO_0006772	obsolete glycogen storage disease VIII				
http://purl.obolibrary.org/obo/MONDO_0006775	obsolete haemophilus influenzae meningitis				
http://purl.obolibrary.org/obo/MONDO_0006776	obsolete hairy cell leukemia				
http://purl.obolibrary.org/obo/MONDO_0006785	obsolete Henoch-Schoenlein purpura				
http://purl.obolibrary.org/obo/MONDO_0006788	obsolete hydrophthalmos				
http://purl.obolibrary.org/obo/MONDO_0006818	obsolete keratoconjunctivitis sicca				
http://purl.obolibrary.org/obo/MONDO_0006819	obsolete kernicterus				
http://purl.obolibrary.org/obo/MONDO_0006822	obsolete Klatskin's tumor				
http://purl.obolibrary.org/obo/MONDO_0006832	obsolete limited scleroderma				
http://purl.obolibrary.org/obo/MONDO_0006860	obsolete mucoepidermoid tumor				
http://purl.obolibrary.org/obo/MONDO_0006885	obsolete MONDO:0006885				
http://purl.obolibrary.org/obo/MONDO_0006906	obsolete pigmented villonodular synovitis				
http://purl.obolibrary.org/obo/MONDO_0006910	obsolete pituitary-dependent Cushing disease				
http://purl.obolibrary.org/obo/MONDO_0006911	obsolete placental site trophoblastic tumor				
http://purl.obolibrary.org/obo/MONDO_0006928	obsolete proliferative vitreoretinopathy				
http://purl.obolibrary.org/obo/MONDO_0006967	obsolete septic abortion				
http://purl.obolibrary.org/obo/MONDO_0006985	obsolete subependymoma				
http://purl.obolibrary.org/obo/MONDO_0006991	obsolete sympathetic ophthalmia				
http://purl.obolibrary.org/obo/MONDO_0007003	obsolete twin-to-twin transfusion syndrome				
http://purl.obolibrary.org/obo/MONDO_0007026	obsolete non-alcoholic fatty liver				
http://purl.obolibrary.org/obo/MONDO_0007065	obsolete adenosine deaminase, elevated, hemolytic anemia due to				
http://purl.obolibrary.org/obo/MONDO_0007069	obsolete Adie syndrome				
http://purl.obolibrary.org/obo/MONDO_0007291	obsolete familial cerebral cavernous malformation				
http://purl.obolibrary.org/obo/MONDO_0007292	obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm				
http://purl.obolibrary.org/obo/MONDO_0007324	obsolete chorea				
http://purl.obolibrary.org/obo/MONDO_0007326	obsolete paroxysmal nonkinesigenic dyskinesia 1				
http://purl.obolibrary.org/obo/MONDO_0007494	obsolete episodic kinesigenic dyskinesia 1				
http://purl.obolibrary.org/obo/MONDO_0007563	obsolete epistaxis, hereditary				
http://purl.obolibrary.org/obo/MONDO_0007583	obsolete exostoses of heel				
http://purl.obolibrary.org/obo/MONDO_0007591	obsolete facial hypertrichosis				
http://purl.obolibrary.org/obo/MONDO_0007596	obsolete factor VIII deficiency				
http://purl.obolibrary.org/obo/MONDO_0007607	obsolete Birt-Hogg-Dube syndrome				
http://purl.obolibrary.org/obo/MONDO_0007613	obsolete fibromuscular dysplasia of arteries				
http://purl.obolibrary.org/obo/MONDO_0007622	obsolete flood factor deficiency				
http://purl.obolibrary.org/obo/MONDO_0007645	obsolete gastric sneezing				
http://purl.obolibrary.org/obo/MONDO_0007659	obsolete giant platelet syndrome with thrombocytopenia				
http://purl.obolibrary.org/obo/MONDO_0007684	obsolete granulomatous disease, chronic, autosomal dominant type				
http://purl.obolibrary.org/obo/MONDO_0007692	obsolete hairy ears				
http://purl.obolibrary.org/obo/MONDO_0007798	obsolete adult hypophosphatasia				
http://purl.obolibrary.org/obo/MONDO_0007801	obsolete hypoplasia of teeth roots				
http://purl.obolibrary.org/obo/MONDO_0007806	obsolete hypotrichosis 4				
http://purl.obolibrary.org/obo/MONDO_0007815	obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist				
http://purl.obolibrary.org/obo/MONDO_0007828	obsolete indifference to pain, congenital, autosomal dominant				
http://purl.obolibrary.org/obo/MONDO_0007889	obsolete lentigines				
http://purl.obolibrary.org/obo/MONDO_0007926	obsolete Waldenstrom macroglobulinemia				
http://purl.obolibrary.org/obo/MONDO_0007960	obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome				
http://purl.obolibrary.org/obo/MONDO_0007981	obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A				
http://purl.obolibrary.org/obo/MONDO_0008032	obsolete autosomal dominant limb-girdle muscular dystrophy type 1A				
http://purl.obolibrary.org/obo/MONDO_0008068	obsolete navicular bone, accessory				
http://purl.obolibrary.org/obo/MONDO_0008085	obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance				
http://purl.obolibrary.org/obo/MONDO_0008112	obsolete Goldenhar syndrome				
http://purl.obolibrary.org/obo/MONDO_0008117	obsolete oculopharyngodistal myopathy				
http://purl.obolibrary.org/obo/MONDO_0008120	obsolete spinocerebellar ataxia type 7				
http://purl.obolibrary.org/obo/MONDO_0008122	obsolete olivopontocerebellar atrophy 5				
http://purl.obolibrary.org/obo/MONDO_0008204	obsolete patella aplasia, coxa vara, and tarsal synostosis				
http://purl.obolibrary.org/obo/MONDO_0008279	obsolete familial adenomatous polyposis type 1				
http://purl.obolibrary.org/obo/MONDO_0008345	obsolete idiopathic pulmonary fibrosis				
http://purl.obolibrary.org/obo/MONDO_0008351	obsolete pupil, egg-shaped				
http://purl.obolibrary.org/obo/MONDO_0008360	obsolete radioulnar synostosis				
http://purl.obolibrary.org/obo/MONDO_0008431	obsolete slipped femoral capital epiphyses				
http://purl.obolibrary.org/obo/MONDO_0008448	obsolete spheroid body myopathy				
http://purl.obolibrary.org/obo/MONDO_0008549	obsolete thoracic dysostosis, isolated				
http://purl.obolibrary.org/obo/MONDO_0008616	obsolete twinning due to superfetation				
http://purl.obolibrary.org/obo/MONDO_0008625	obsolete urate-binding globulin, decrease 1N				
http://purl.obolibrary.org/obo/MONDO_0008646	obsolete long QT syndrome 1				
http://purl.obolibrary.org/obo/MONDO_0008656	obsolete benign paroxysmal positional nystagmus				
http://purl.obolibrary.org/obo/MONDO_0008657	obsolete vibratory angioedema				
http://purl.obolibrary.org/obo/MONDO_0008674	obsolete WHIM syndrome				
http://purl.obolibrary.org/obo/MONDO_0008761	obsolete alpha-2-deficient collagen disease				
http://purl.obolibrary.org/obo/MONDO_0008784	obsolete autoimmune hemolytic anemia				
http://purl.obolibrary.org/obo/MONDO_0008805	obsolete Takayasu's arteritis				
http://purl.obolibrary.org/obo/MONDO_0008820	obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies				
http://purl.obolibrary.org/obo/MONDO_0008852	obsolete congenital central hypoventilation syndrome				
http://purl.obolibrary.org/obo/MONDO_0008897	obsolete tumoral calcinosis, hyperphosphatemic, familial, 1				
http://purl.obolibrary.org/obo/MONDO_0008929	obsolete cataract-intellectual disability-hypogonadism syndrome				
http://purl.obolibrary.org/obo/MONDO_0008940	obsolete endosteal sclerosis-cerebellar hypoplasia syndrome				
http://purl.obolibrary.org/obo/MONDO_0008942	obsolete cerebelloparenchymal disorder II				
http://purl.obolibrary.org/obo/MONDO_0008952	obsolete cerebrofaciothoracic dysplasia				
http://purl.obolibrary.org/obo/MONDO_0009004	obsolete combined inflammatory and immunologic defect				
http://purl.obolibrary.org/obo/MONDO_0009065	obsolete cystinosis, nephropathic				
http://purl.obolibrary.org/obo/MONDO_0009068	obsolete cytochrome-c oxidase deficiency disease				
http://purl.obolibrary.org/obo/MONDO_0009096	obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia				
http://purl.obolibrary.org/obo/MONDO_0009116	obsolete lactose intolerance				
http://purl.obolibrary.org/obo/MONDO_0009245	obsolete Friedreich ataxia				
http://purl.obolibrary.org/obo/MONDO_0009304	obsolete Gorlin-Chaudhry-Moss syndrome				
http://purl.obolibrary.org/obo/MONDO_0009314	obsolete GTP-cyclohydrolase I deficiency				
http://purl.obolibrary.org/obo/MONDO_0009316	obsolete hair defect-photosensitivity-intellectual disability syndrome				
http://purl.obolibrary.org/obo/MONDO_0009322	obsolete halo nevi				
http://purl.obolibrary.org/obo/MONDO_0009325	obsolete deafness-enamel hypoplasia-nail defects syndrome				
http://purl.obolibrary.org/obo/MONDO_0009410	obsolete Addison disease				
http://purl.obolibrary.org/obo/MONDO_0009427	obsolete infantile hypophosphatasia				
http://purl.obolibrary.org/obo/MONDO_0009428	obsolete childhood hypophosphatasia				
http://purl.obolibrary.org/obo/MONDO_0009453	obsolete immune deficiency disease				
http://purl.obolibrary.org/obo/MONDO_0009455	obsolete immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes				
http://purl.obolibrary.org/obo/MONDO_0009494	obsolete Ketoadipicaciduria				
http://purl.obolibrary.org/obo/MONDO_0009510	obsolete Laron syndrome with immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0009535	obsolete lymphedema, congenital recessive				
http://purl.obolibrary.org/obo/MONDO_0009586	obsolete mesangial sclerosis, diffuse renal, with ocular abnormalities				
http://purl.obolibrary.org/obo/MONDO_0009639	obsolete mitochondrial myopathy with lactic acidosis				
http://purl.obolibrary.org/obo/MONDO_0009640	obsolete mitochondrial complex I deficiency, nuclear type				
http://purl.obolibrary.org/obo/MONDO_0009641	obsolete mitochondrial complex II deficiency				
http://purl.obolibrary.org/obo/MONDO_0009651	obsolete pseudo-Hurler polydystrophy				
http://purl.obolibrary.org/obo/MONDO_0009654	obsolete mucopolysaccharidoses, unclassified types				
http://purl.obolibrary.org/obo/MONDO_0009700	obsolete Carey-Fineman-Ziter syndrome				
http://purl.obolibrary.org/obo/MONDO_0009730	obsolete nephrosialidosis				
http://purl.obolibrary.org/obo/MONDO_0009739	obsolete infantile neuroaxonal dystrophy				
http://purl.obolibrary.org/obo/MONDO_0009753	obsolete neurovisceral storage disease with Curvilinear bodies				
http://purl.obolibrary.org/obo/MONDO_0009812	obsolete osteomalacia, sclerosing, with cerebral calcification				
http://purl.obolibrary.org/obo/MONDO_0009827	obsolete pachyonychia congenita, autosomal recessive				
http://purl.obolibrary.org/obo/MONDO_0009829	obsolete pallidal degeneration, progressive, with retinitis pigmentosa				
http://purl.obolibrary.org/obo/MONDO_0009834	obsolete pancreatic insufficiency, combined exocrine				
http://purl.obolibrary.org/obo/MONDO_0009989	obsolete enhanced S-cone syndrome				
http://purl.obolibrary.org/obo/MONDO_0009997	obsolete Roberts syndrome				
http://purl.obolibrary.org/obo/MONDO_0010009	obsolete SC phocomelia syndrome				
http://purl.obolibrary.org/obo/MONDO_0010050	obsolete spastic pseudosclerosis				
http://purl.obolibrary.org/obo/MONDO_0010061	obsolete autosomal recessive cerebellar ataxia-blindness-deafness syndrome				
http://purl.obolibrary.org/obo/MONDO_0010071	obsolete spondyloenchondrodysplasia				
http://purl.obolibrary.org/obo/MONDO_0010107	obsolete testicular regression syndrome				
http://purl.obolibrary.org/obo/MONDO_0010119	obsolete Glanzmann's thrombasthenia				
http://purl.obolibrary.org/obo/MONDO_0010143	obsolete lethal restrictive dermopathy				
http://purl.obolibrary.org/obo/MONDO_0010205	obsolete Wolman disease with hypolipoproteinemia and acanthocytosis				
http://purl.obolibrary.org/obo/MONDO_0010272	obsolete syndromic X-linked intellectual disability type 10				
http://purl.obolibrary.org/obo/MONDO_0010368	obsolete immunodeficiency without anhidrotic ectodermal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0010372	obsolete Clark-Baraitser syndrome				
http://purl.obolibrary.org/obo/MONDO_0010376	obsolete Brooks-Wisniewski-brown syndrome				
http://purl.obolibrary.org/obo/MONDO_0010387	obsolete invasive pneumococcal disease, recurrent isolated, 2				
http://purl.obolibrary.org/obo/MONDO_0010394	obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome				
http://purl.obolibrary.org/obo/MONDO_0010419	obsolete X-linked sideroblastic anemia				
http://purl.obolibrary.org/obo/MONDO_0010445	obsolete McLeod syndrome				
http://purl.obolibrary.org/obo/MONDO_0010527	obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome				
http://purl.obolibrary.org/obo/MONDO_0010553	obsolete Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined				
http://purl.obolibrary.org/obo/MONDO_0010594	obsolete inherited genitourinary tract anomalies				
http://purl.obolibrary.org/obo/MONDO_0010595	obsolete Sertoli cell-only syndrome				
http://purl.obolibrary.org/obo/MONDO_0010609	obsolete Hirschsprung disease with type d brachydactyly				
http://purl.obolibrary.org/obo/MONDO_0010624	obsolete IFAP/BRESHECK syndrome				
http://purl.obolibrary.org/obo/MONDO_0010666	obsolete Miles-Carpenter syndrome				
http://purl.obolibrary.org/obo/MONDO_0010715	obsolete pseudohermaphroditism, incomplete male, type 1				
http://purl.obolibrary.org/obo/MONDO_0010766	obsolete 46,XX sex reversal 1				
http://purl.obolibrary.org/obo/MONDO_0010845	obsolete macrothrombocytopenia and progressive sensorineural deafness				
http://purl.obolibrary.org/obo/MONDO_0010892	obsolete mitochondrial myopathy and sideroblastic anemia				
http://purl.obolibrary.org/obo/MONDO_0010975	obsolete arrhythmogenic right ventricular dysplasia 2				
http://purl.obolibrary.org/obo/MONDO_0010994	obsolete micromelic dwarfism, Fryns type				
http://purl.obolibrary.org/obo/MONDO_0011108	obsolete Stüve-Wiedemann syndrome				
http://purl.obolibrary.org/obo/MONDO_0011127	obsolete Bartter disease type 1				
http://purl.obolibrary.org/obo/MONDO_0011293	obsolete Homocysteinemia				
http://purl.obolibrary.org/obo/MONDO_0011311	obsolete glaucoma 1, open angle, F				
http://purl.obolibrary.org/obo/MONDO_0011324	obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss				
http://purl.obolibrary.org/obo/MONDO_0011329	obsolete cerebral palsy, spastic quadriplegic, 1				
http://purl.obolibrary.org/obo/MONDO_0011333	obsolete light fixation seizure syndrome				
http://purl.obolibrary.org/obo/MONDO_0011380	obsolete leukoencephalopathy with vanishing white matter				
http://purl.obolibrary.org/obo/MONDO_0011467	obsolete human herpesvirus type 6, integrated				
http://purl.obolibrary.org/obo/MONDO_0011469	obsolete congenital amegakaryocytic thrombocytopenia				
http://purl.obolibrary.org/obo/MONDO_0011495	obsolete Langerhans-cell histiocytosis				
http://purl.obolibrary.org/obo/MONDO_0011499	obsolete Okamoto syndrome				
http://purl.obolibrary.org/obo/MONDO_0011643	obsolete permanent neonatal diabetes mellitus				
http://purl.obolibrary.org/obo/MONDO_0011645	obsolete aneurysmal bone cysts				
http://purl.obolibrary.org/obo/MONDO_0011791	obsolete deafness, autosomal recessive				
http://purl.obolibrary.org/obo/MONDO_0011809	obsolete mammographic density				
http://purl.obolibrary.org/obo/MONDO_0011859	obsolete distal myopathy with early respiratory muscle involvement				
http://purl.obolibrary.org/obo/MONDO_0011876	obsolete juvenile absence epilepsy				
http://purl.obolibrary.org/obo/MONDO_0011878	obsolete Worth syndrome				
http://purl.obolibrary.org/obo/MONDO_0011905	obsolete familial hypercholanemia				
http://purl.obolibrary.org/obo/MONDO_0011910	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C				
http://purl.obolibrary.org/obo/MONDO_0011961	obsolete hereditary sensory and autonomic neuropathy type 1B				
http://purl.obolibrary.org/obo/MONDO_0012017	obsolete Parkes Weber syndrome				
http://purl.obolibrary.org/obo/MONDO_0012018	obsolete myopathy, myosin storage, autosomal dominant				
http://purl.obolibrary.org/obo/MONDO_0012148	obsolete drug metabolism, poor, CYP2D6-related				
http://purl.obolibrary.org/obo/MONDO_0012201	obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum				
http://purl.obolibrary.org/obo/MONDO_0012279	obsolete congenital muscular dystrophy merosin-positive				
http://purl.obolibrary.org/obo/MONDO_0012294	obsolete drug metabolism, poor, Cyp2C19-related				
http://purl.obolibrary.org/obo/MONDO_0012332	obsolete short stature-delayed bone age due to thyroid hormone metabolism deficiency				
http://purl.obolibrary.org/obo/MONDO_0012356	obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria				
http://purl.obolibrary.org/obo/MONDO_0012372	obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features				
http://purl.obolibrary.org/obo/MONDO_0012501	obsolete mutagen sensitivity				
http://purl.obolibrary.org/obo/MONDO_0012560	obsolete invasive pneumococcal disease, recurrent isolated, 1				
http://purl.obolibrary.org/obo/MONDO_0012632	obsolete Alzheimer disease 15				
http://purl.obolibrary.org/obo/MONDO_0012647	obsolete generalized epilepsy with febrile seizures plus, type 3				
http://purl.obolibrary.org/obo/MONDO_0013001	obsolete synesthesia				
http://purl.obolibrary.org/obo/MONDO_0013019	obsolete spondyloepimetaphyseal dysplasia, Pakistani type				
http://purl.obolibrary.org/obo/MONDO_0013126	obsolete Bartter syndrome, type 4B				
http://purl.obolibrary.org/obo/MONDO_0013141	obsolete autosomal dominant macrothrombocytopenia TUBB1-related				
http://purl.obolibrary.org/obo/MONDO_0013347	obsolete gastric cancer				
http://purl.obolibrary.org/obo/MONDO_0013538	obsolete alpha-2-macroglobulin deficiency				
http://purl.obolibrary.org/obo/MONDO_0013596	obsolete nonsyndromic congenital nail disorder 10				
http://purl.obolibrary.org/obo/MONDO_0013667	obsolete myelodysplastic syndrome				
http://purl.obolibrary.org/obo/MONDO_0013676	obsolete hypermethioninemia due to adenosine kinase deficiency				
http://purl.obolibrary.org/obo/MONDO_0013861	obsolete amyotrophic lateral sclerosis type 17				
http://purl.obolibrary.org/obo/MONDO_0013935	obsolete Usher syndrome type 1J				
http://purl.obolibrary.org/obo/MONDO_0014109	obsolete NGLY1-deficiency				
http://purl.obolibrary.org/obo/MONDO_0014129	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R				
http://purl.obolibrary.org/obo/MONDO_0014849	obsolete autosomal recessive nonsyndromic deafness 105				
http://purl.obolibrary.org/obo/MONDO_0015156	obsolete typhus-group rickettsiosis				
http://purl.obolibrary.org/obo/MONDO_0015255	obsolete blepharophimosis-radioulnar synostosis syndrome				
http://purl.obolibrary.org/obo/MONDO_0015334	obsolete branchial arch or oral-acral syndrome				
http://purl.obolibrary.org/obo/MONDO_0015336	obsolete malformation syndrome with odontal and/or periodontal component				
http://purl.obolibrary.org/obo/MONDO_0015412	obsolete median facial cleft				
http://purl.obolibrary.org/obo/MONDO_0015424	obsolete lethal chondrodysplasia, Moerman type				
http://purl.obolibrary.org/obo/MONDO_0015442	obsolete hereditary breast and ovarian cancer syndrome				
http://purl.obolibrary.org/obo/MONDO_0015503	obsolete nose and cavum anomaly				
http://purl.obolibrary.org/obo/MONDO_0015572	obsolete cerebral malformation due to abnormal neuronal migration				
http://purl.obolibrary.org/obo/MONDO_0015707	obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies				
http://purl.obolibrary.org/obo/MONDO_0015917	obsolete malignant glioma				
http://purl.obolibrary.org/obo/MONDO_0015931	obsolete rare urogenital tumor				
http://purl.obolibrary.org/obo/MONDO_0015938	obsolete systemic disease				
http://purl.obolibrary.org/obo/MONDO_0015952	obsolete genetic neurodegenerative disease				
http://purl.obolibrary.org/obo/MONDO_0016021	obsolete early infantile epileptic encephalopathy				
http://purl.obolibrary.org/obo/MONDO_0016022	obsolete early myoclonic encephalopathy				
http://purl.obolibrary.org/obo/MONDO_0016036	obsolete Ledderhose disease				
http://purl.obolibrary.org/obo/MONDO_0016131	obsolete spinal muscular atrophy associated with central nervous system anomaly				
http://purl.obolibrary.org/obo/MONDO_0016148	obsolete qualitative or quantitative defects of collagen 6				
http://purl.obolibrary.org/obo/MONDO_0016251	obsolete salivary gland type cancer of the breast				
http://purl.obolibrary.org/obo/MONDO_0016401	obsolete energy metabolism disorder with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016667	obsolete sickle cell disease associated with an other hemoglobin anomaly				
http://purl.obolibrary.org/obo/MONDO_0016808	obsolete mitochondrial DNA depletion syndrome, hepatocerebral form				
http://purl.obolibrary.org/obo/MONDO_0017028	obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease				
http://purl.obolibrary.org/obo/MONDO_0017122	obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017272	obsolete autosomal ichthyosis syndrome with prominent neurologics signs				
http://purl.obolibrary.org/obo/MONDO_0017293	obsolete small cell carcinoma of the bladder				
http://purl.obolibrary.org/obo/MONDO_0017458	obsolete postaxial polydactyly of toes				
http://purl.obolibrary.org/obo/MONDO_0017635	obsolete parkinsonian syndrome due to neurodegenerative disease				
http://purl.obolibrary.org/obo/MONDO_0017651	obsolete primary myoclonus				
http://purl.obolibrary.org/obo/MONDO_0017753	obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation				
http://purl.obolibrary.org/obo/MONDO_0017848	obsolete partial deletion of the short arm of chromosome 12				
http://purl.obolibrary.org/obo/MONDO_0017938	obsolete X-linked cleft palate and ankyloglossia				
http://purl.obolibrary.org/obo/MONDO_0017950	obsolete microcephalic primordial dwarfism				
http://purl.obolibrary.org/obo/MONDO_0017959	obsolete JMP syndrome				
http://purl.obolibrary.org/obo/MONDO_0018138	obsolete ocular albinism with congenital sensorineural hearing loss				
http://purl.obolibrary.org/obo/MONDO_0018275	obsolete salt and pepper syndrome				
http://purl.obolibrary.org/obo/MONDO_0018296	obsolete congenital disorder of glycosylation with developmental anomaly				
http://purl.obolibrary.org/obo/MONDO_0018329	obsolete persistent combined dystonia				
http://purl.obolibrary.org/obo/MONDO_0018391	obsolete male infertility with spermatogenesis disorder				
http://purl.obolibrary.org/obo/MONDO_0018392	obsolete male infertility with spermatogenesis disorder due to single gene mutation				
http://purl.obolibrary.org/obo/MONDO_0018466	obsolete hereditary late onset Parkinson disease				
http://purl.obolibrary.org/obo/MONDO_0018562	obsolete hereditary otorhinolaryngological malformation				
http://purl.obolibrary.org/obo/MONDO_0018641	obsolete paroxysmal nocturnal hemoglobinuria				
http://purl.obolibrary.org/obo/MONDO_0018859	obsolete Leigh disease				
http://purl.obolibrary.org/obo/MONDO_0019058	obsolete neurometabolic disease				
http://purl.obolibrary.org/obo/MONDO_0019523	obsolete Walker-Warburg syndrome				
http://purl.obolibrary.org/obo/MONDO_0019590	obsolete rare endocrine growth disease				
http://purl.obolibrary.org/obo/MONDO_0019663	obsolete short rib-polydactyly syndrome, Saldino-Noonan type				
http://purl.obolibrary.org/obo/MONDO_0019706	obsolete lysosomal storage disease with skeletal involvement				
http://purl.obolibrary.org/obo/MONDO_0019744	obsolete rare renal tubular disease				
http://purl.obolibrary.org/obo/MONDO_0019778	obsolete Smith-Fineman-Myers syndrome				
http://purl.obolibrary.org/obo/MONDO_0020030	obsolete rare genetic renal disease				
http://purl.obolibrary.org/obo/MONDO_0020141	obsolete infectious disease with dementia				
http://purl.obolibrary.org/obo/MONDO_0020162	obsolete secondary ectropion				
http://purl.obolibrary.org/obo/MONDO_0020186	obsolete eyebrow hypertrophy				
http://purl.obolibrary.org/obo/MONDO_0020279	obsolete metabolic disease with corneal opacity				
http://purl.obolibrary.org/obo/MONDO_0020285	obsolete transposition of the great arteries and conotruncal cardiac anomaly				
http://purl.obolibrary.org/obo/MONDO_0020300	obsolete autosomal dominant nocturnal frontal lobe epilepsy				
http://purl.obolibrary.org/obo/MONDO_0020312	obsolete atypical chronic myeloid leukemia				
http://purl.obolibrary.org/obo/MONDO_0020342	obsolete congenital myopathy with excess of thin filaments				
http://purl.obolibrary.org/obo/MONDO_0020522	obsolete Ehlers-Danlos syndrome type 7B				
http://purl.obolibrary.org/obo/MONDO_0021051	obsolete hemophagocytic syndrome				
http://purl.obolibrary.org/obo/MONDO_0009466	obsolete neuronal intestinal pseudoobstruction				
http://purl.obolibrary.org/obo/MONDO_0009531	obsolete lip prints				
http://purl.obolibrary.org/obo/MONDO_0009553	obsolete Plasmodium falciparum blood infection level				
http://purl.obolibrary.org/obo/MONDO_0009826	obsolete PA polymorphism of alpha-2-globulin				
http://purl.obolibrary.org/obo/MONDO_0009941	obsolete Pygmy				
http://purl.obolibrary.org/obo/MONDO_0009995	obsolete rheumatic fever-related antigen				
http://purl.obolibrary.org/obo/MONDO_0010034	obsolete anosmia for butyl mercaptan				
http://purl.obolibrary.org/obo/MONDO_0010059	obsolete spinal muscular atrophy, type I, with congenital bone fractures				
http://purl.obolibrary.org/obo/MONDO_0010113	obsolete thalidomide susceptibility				
http://purl.obolibrary.org/obo/MONDO_0010195	obsolete Weissenbacher-Zweymuller syndrome				
http://purl.obolibrary.org/obo/MONDO_0010204	obsolete lysosomal acid lipase deficiency				
http://purl.obolibrary.org/obo/MONDO_0010234	obsolete body length, mouse, human homolog				
http://purl.obolibrary.org/obo/MONDO_0010249	obsolete X-linked B cell surface antigen, mouse, homolog-like 1				
http://purl.obolibrary.org/obo/MONDO_0010254	obsolete hematopoietic stem cell kinetics, control of				
http://purl.obolibrary.org/obo/MONDO_0010291	obsolete androgen insensitivity syndrome due to coactivator deficiency				
http://purl.obolibrary.org/obo/MONDO_0010301	obsolete thrombocythemia, X-linked				
http://purl.obolibrary.org/obo/MONDO_0010303	obsolete colobomatous microphthalmia				
http://purl.obolibrary.org/obo/MONDO_0010346	obsolete MRX52				
http://purl.obolibrary.org/obo/MONDO_0010357	obsolete MRX78				
http://purl.obolibrary.org/obo/MONDO_0010470	obsolete Baratela-Scott syndrome				
http://purl.obolibrary.org/obo/MONDO_0010513	obsolete intellectual disability, X-linked, syndromic, Borck type				
http://purl.obolibrary.org/obo/MONDO_0010530	obsolete anus, imperforate				
http://purl.obolibrary.org/obo/MONDO_0010582	obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance				
http://purl.obolibrary.org/obo/MONDO_0010682	obsolete myoclonic epilepsy, progressive, X-linked				
http://purl.obolibrary.org/obo/MONDO_0010705	obsolete ouabain resistance				
http://purl.obolibrary.org/obo/MONDO_0010760	obsolete XH antigen				
http://purl.obolibrary.org/obo/MONDO_0010783	obsolete Alzheimer disease, susceptibility to, mitochondrial				
http://purl.obolibrary.org/obo/MONDO_0010804	obsolete BRCATA				
http://purl.obolibrary.org/obo/MONDO_0010935	obsolete neuronopathy, distal hereditary motor, type 5A				
http://purl.obolibrary.org/obo/MONDO_0010942	obsolete eukaryotic translation elongation factor 1 alpha-1-like 14				
http://purl.obolibrary.org/obo/MONDO_0010957	obsolete agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations				
http://purl.obolibrary.org/obo/MONDO_0010990	obsolete Cd4/CD8 T-cell ratio				
http://purl.obolibrary.org/obo/MONDO_0011111	obsolete horns in sheep				
http://purl.obolibrary.org/obo/MONDO_0011140	obsolete benign familial neonatal-infantile seizures				
http://purl.obolibrary.org/obo/MONDO_0011204	obsolete cerebellar degeneration-related autoantigen 3				
http://purl.obolibrary.org/obo/MONDO_0011222	obsolete glaucoma 1, open angle, D				
http://purl.obolibrary.org/obo/MONDO_0014610	obsolete ciliary dyskinesia, primary, 31				
http://purl.obolibrary.org/obo/MONDO_0014753	obsolete autosomal recessive optic atrophy				
http://purl.obolibrary.org/obo/MONDO_0015113	obsolete rare vascular liver disease				
http://purl.obolibrary.org/obo/MONDO_0015182	obsolete congenital enteropathy involving intestinal mucosa development				
http://purl.obolibrary.org/obo/MONDO_0015319	obsolete rare disease with Pierre Robin syndrome				
http://purl.obolibrary.org/obo/MONDO_0015360	obsolete autosomal dominant hereditary axonal motor and sensory neuropathy				
http://purl.obolibrary.org/obo/MONDO_0015373	obsolete Saldino-Mainzer syndrome				
http://purl.obolibrary.org/obo/MONDO_0015415	obsolete oblique facial cleft				
http://purl.obolibrary.org/obo/MONDO_0015655	obsolete cerebral malformation with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0015709	obsolete immunodeficiency syndrome with autoimmunity				
http://purl.obolibrary.org/obo/MONDO_0015825	obsolete obesity due to congenital leptin resistance				
http://purl.obolibrary.org/obo/MONDO_0015920	obsolete syndromic neurometabolic disease with X-linked intellectual disability				
http://purl.obolibrary.org/obo/MONDO_0015921	obsolete ARX-related epileptic encephalopathy				
http://purl.obolibrary.org/obo/MONDO_0015973	obsolete rare genetic coagulation disorder				
http://purl.obolibrary.org/obo/MONDO_0015975	obsolete hyper-IgM syndrome with susceptibility to opportunistic infections				
http://purl.obolibrary.org/obo/MONDO_0015989	obsolete congenital valvular dysplasia				
http://purl.obolibrary.org/obo/MONDO_0016055	obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature				
http://purl.obolibrary.org/obo/MONDO_0016111	obsolete non-dystrophic myopathy with collagen 6 anomaly				
http://purl.obolibrary.org/obo/MONDO_0016121	obsolete congenital myotonia				
http://purl.obolibrary.org/obo/MONDO_0016152	obsolete qualitative or quantitative defects of calpain				
http://purl.obolibrary.org/obo/MONDO_0016154	obsolete qualitative or quantitative defects of myotubularin				
http://purl.obolibrary.org/obo/MONDO_0016196	obsolete qualitative or quantitative defects of emerin				
http://purl.obolibrary.org/obo/MONDO_0016335	obsolete mitochondrial disease with dilated cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016398	obsolete peroxisomal disease with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016399	obsolete amino acid or protein metabolism disease with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016400	obsolete metal transport or utilization disorder with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016404	obsolete metabolic neurotransmission anomaly with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016428	obsolete multiple sclerosis variant				
http://purl.obolibrary.org/obo/MONDO_0016792	obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA				
http://purl.obolibrary.org/obo/MONDO_0016793	obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA				
http://purl.obolibrary.org/obo/MONDO_0016794	obsolete maternally-inherited mitochondrial myopathy				
http://purl.obolibrary.org/obo/MONDO_0016795	obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA				
http://purl.obolibrary.org/obo/MONDO_0016803	obsolete unspecified inborn mitochondrial disorder				
http://purl.obolibrary.org/obo/MONDO_0016804	obsolete exercise intolerance with lactic acidosis				
http://purl.obolibrary.org/obo/MONDO_0016916	obsolete partial deletion of the long arm of chromosome 18				
http://purl.obolibrary.org/obo/MONDO_0017016	obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder				
http://purl.obolibrary.org/obo/MONDO_0017057	obsolete hereditary thrombocytopenia with normal platelets				
http://purl.obolibrary.org/obo/MONDO_0017090	obsolete midline cerebral malformation				
http://purl.obolibrary.org/obo/MONDO_0017271	obsolete autosomal ichthyosis syndrome with prominent hair abnormalities				
http://purl.obolibrary.org/obo/MONDO_0017273	obsolete autosomal ichthyosis syndrome with fatal disease course				
http://purl.obolibrary.org/obo/MONDO_0017581	obsolete familial infantile gigantism				
http://purl.obolibrary.org/obo/MONDO_0017654	obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017693	obsolete glycogen storage disease due to glycogen synthase deficiency				
http://purl.obolibrary.org/obo/MONDO_0017717	obsolete metabolic disease due to other fatty acid oxidation disorder				
http://purl.obolibrary.org/obo/MONDO_0017718	obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes				
http://purl.obolibrary.org/obo/MONDO_0017744	obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis				
http://purl.obolibrary.org/obo/MONDO_0017854	obsolete T-b+ severe combined immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0017912	obsolete X-linked pure spastic paraplegia				
http://purl.obolibrary.org/obo/MONDO_0017915	obsolete pure or complex autosomal recessive spastic paraplegia				
http://purl.obolibrary.org/obo/MONDO_0017916	obsolete pure or complex X-linked spastic paraplegia				
http://purl.obolibrary.org/obo/MONDO_0017954	obsolete pyogenic autoinflammatory syndrome				
http://purl.obolibrary.org/obo/MONDO_0017966	obsolete 46,XY disorder of gonadal development				
http://purl.obolibrary.org/obo/MONDO_0017969	obsolete 46,XY disorder of sex development of endocrine origin				
http://purl.obolibrary.org/obo/MONDO_0017971	obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect				
http://purl.obolibrary.org/obo/MONDO_0018038	obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells				
http://purl.obolibrary.org/obo/MONDO_0018040	obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells				
http://purl.obolibrary.org/obo/MONDO_0018041	obsolete other immunodeficiency syndrome with predominantly antibody defects				
http://purl.obolibrary.org/obo/MONDO_0018104	obsolete Torg-Winchester syndrome				
http://purl.obolibrary.org/obo/MONDO_0018157	obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis				
http://purl.obolibrary.org/obo/MONDO_0018187	obsolete hereditary syndromic Pierre Robin syndrome				
http://purl.obolibrary.org/obo/MONDO_0018191	obsolete tumor of testis and paratestis				
http://purl.obolibrary.org/obo/MONDO_0018222	obsolete X-linked intellectual disability due to GRIA3 anomalies				
http://purl.obolibrary.org/obo/MONDO_0018251	obsolete glycogen storage disease due to phosphorylase kinase deficiency				
http://purl.obolibrary.org/obo/MONDO_0018265	obsolete rare disorder with dystonia and other neurologic or systemic manifestation				
http://purl.obolibrary.org/obo/MONDO_0018284	obsolete congenital disorder of glycosylation with neurological involvement				
http://purl.obolibrary.org/obo/MONDO_0018294	obsolete congenital disorder of glycosylation with nephropathy as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018295	obsolete congenital disorder of glycosylation with deafness as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018386	obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder				
http://purl.obolibrary.org/obo/MONDO_0018388	obsolete rare male infertility due to testicular endocrine disorder				
http://purl.obolibrary.org/obo/MONDO_0018397	obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder				
http://purl.obolibrary.org/obo/MONDO_0018496	obsolete ARX-related encephalopathy-brain malformation spectrum				
http://purl.obolibrary.org/obo/MONDO_0018558	obsolete syndrome with wooly hair				
http://purl.obolibrary.org/obo/MONDO_0018720	obsolete common cystic lymphatic malformation				
http://purl.obolibrary.org/obo/MONDO_0018743	obsolete immune-mediated acquired neuromuscular junction disease				
http://purl.obolibrary.org/obo/MONDO_0018796	obsolete isolated constitutional thrombocytopenia				
http://purl.obolibrary.org/obo/MONDO_0018831	obsolete HTRA1-related cerebral small vessel disease				
http://purl.obolibrary.org/obo/MONDO_0019014	obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques				
http://purl.obolibrary.org/obo/MONDO_0019302	obsolete mucopolysaccharidosis with skin involvement				
http://purl.obolibrary.org/obo/MONDO_0019410	obsolete nodulosis-arthropathy-osteolysis syndrome				
http://purl.obolibrary.org/obo/MONDO_0019596	obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect				
http://purl.obolibrary.org/obo/MONDO_0019705	obsolete primary bone dysplasia with defective bone mineralization				
http://purl.obolibrary.org/obo/MONDO_0019717	obsolete chromosomal disease with overgrowth				
http://purl.obolibrary.org/obo/MONDO_0019987	obsolete congenital and infantile nephrotic syndrome				
http://purl.obolibrary.org/obo/MONDO_0020041	obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue				
http://purl.obolibrary.org/obo/MONDO_0020104	obsolete rare constitutional hemolytic anemia due to an enzyme disorder				
http://purl.obolibrary.org/obo/MONDO_0020107	obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder				
http://purl.obolibrary.org/obo/MONDO_0020109	obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder				
http://purl.obolibrary.org/obo/MONDO_0020146	obsolete major induction processes eye anomaly				
http://purl.obolibrary.org/obo/MONDO_0020160	obsolete secondary entropion				
http://purl.obolibrary.org/obo/MONDO_0020189	obsolete eyebrow/eyelashes structural anomaly				
http://purl.obolibrary.org/obo/MONDO_0020217	obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly				
http://purl.obolibrary.org/obo/MONDO_0020219	obsolete corneogoniodysgenesis				
http://purl.obolibrary.org/obo/MONDO_0020221	obsolete secondary glaucoma due to a proliferation and differentiation anomaly				
http://purl.obolibrary.org/obo/MONDO_0020228	obsolete cataract associated with a metabolic disease				
http://purl.obolibrary.org/obo/MONDO_0020229	obsolete cerebral disease with cataract				
http://purl.obolibrary.org/obo/MONDO_0020230	obsolete renal disease with cataract				
http://purl.obolibrary.org/obo/MONDO_0020241	obsolete unclassified familial retinal dystrophy				
http://purl.obolibrary.org/obo/MONDO_0020265	obsolete mitochondrial disease with eye involvement				
http://purl.obolibrary.org/obo/MONDO_0020268	obsolete ichthyosis associated with ocular features				
http://purl.obolibrary.org/obo/MONDO_0020282	obsolete metabolic disease with macular cherry-red spot				
http://purl.obolibrary.org/obo/MONDO_0020287	obsolete pulmonary artery or pulmonary branch anomaly				
http://purl.obolibrary.org/obo/MONDO_0020339	obsolete X-linked complex spastic paraplegia				
http://purl.obolibrary.org/obo/MONDO_0020345	obsolete presynaptic congenital myasthenic syndrome				
http://purl.obolibrary.org/obo/MONDO_0020392	obsolete discrete fixed membranous subaortic stenosis				
http://purl.obolibrary.org/obo/MONDO_0020524	obsolete primary parathyroid hyperplasia				
http://purl.obolibrary.org/obo/MONDO_0016606	obsolete prenatal benign hypophosphatasia				
http://purl.obolibrary.org/obo/MONDO_0016626	obsolete hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency				
http://purl.obolibrary.org/obo/MONDO_0016627	obsolete rare hemorrhagic disorder				
http://purl.obolibrary.org/obo/MONDO_0016629	obsolete hemorrhagic disorder due to a platelet anomaly				
http://purl.obolibrary.org/obo/MONDO_0016632	obsolete thrombotic disorder due to a coagulation factors defect				
http://purl.obolibrary.org/obo/MONDO_0016635	obsolete thrombotic disorder due to a platelet anomaly				
http://purl.obolibrary.org/obo/MONDO_0016636	obsolete thrombotic disorder due to a constitutional platelet anomaly				
http://purl.obolibrary.org/obo/MONDO_0016665	obsolete unclassified vasculitis				
http://purl.obolibrary.org/obo/MONDO_0016676	obsolete recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome				
http://purl.obolibrary.org/obo/MONDO_0016701	obsolete oligoastrocytic tumor				
http://purl.obolibrary.org/obo/MONDO_0016704	obsolete glial tumor of neuroepithelial tissue with unknown origin				
http://purl.obolibrary.org/obo/MONDO_0016714	obsolete ganglioneuroblastoma				
http://purl.obolibrary.org/obo/MONDO_0016716	obsolete medulloepithelioma of the central nervous system				
http://purl.obolibrary.org/obo/MONDO_0016721	obsolete pineal tumor of neuroepithelial tissue				
http://purl.obolibrary.org/obo/MONDO_0016725	obsolete pineal parenchymal tumor of intermediate differenciation				
http://purl.obolibrary.org/obo/MONDO_0016738	obsolete primary germ cell tumor of central nervous system				
http://purl.obolibrary.org/obo/MONDO_0016741	obsolete teratoma of the central nervous system				
http://purl.obolibrary.org/obo/MONDO_0016744	obsolete primary melanocytic tumor of central nervous system				
http://purl.obolibrary.org/obo/MONDO_0016753	obsolete benign schwannoma				
http://purl.obolibrary.org/obo/MONDO_0016754	obsolete vestibular schwannoma				
http://purl.obolibrary.org/obo/MONDO_0016767	obsolete cutaneous lichen planus				
http://purl.obolibrary.org/obo/MONDO_0016768	obsolete rare mucosal lichen planus				
http://purl.obolibrary.org/obo/MONDO_0016791	obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies				
http://purl.obolibrary.org/obo/MONDO_0016849	obsolete Nakajo-Nishimura syndrome				
http://purl.obolibrary.org/obo/MONDO_0016962	obsolete partial duplication of the long arm of chromosome 11				
http://purl.obolibrary.org/obo/MONDO_0016973	obsolete thymoma type A				
http://purl.obolibrary.org/obo/MONDO_0016992	obsolete peeling skin syndrome type B				
http://purl.obolibrary.org/obo/MONDO_0016999	obsolete X chromosome number anomaly				
http://purl.obolibrary.org/obo/MONDO_0017000	obsolete X chromosome number anomaly with female phenotype				
http://purl.obolibrary.org/obo/MONDO_0017011	obsolete uniparental disomy of chromosome X				
http://purl.obolibrary.org/obo/MONDO_0017022	obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis				
http://purl.obolibrary.org/obo/MONDO_0017030	obsolete interstitial lung disease in childhood and adulthood				
http://purl.obolibrary.org/obo/MONDO_0017034	obsolete secondary interstitial lung disease in childhood and adulthood				
http://purl.obolibrary.org/obo/MONDO_0017036	obsolete Langerhans cell histiocytosis in childhood and adulthood				
http://purl.obolibrary.org/obo/MONDO_0017040	obsolete exposure-related interstitial lung disease				
http://purl.obolibrary.org/obo/MONDO_0017125	obsolete oculofaciocardiodental syndrome				
http://purl.obolibrary.org/obo/MONDO_0017141	obsolete hemorrhagic disorder due to a constitutional thrombocytopenia				
http://purl.obolibrary.org/obo/MONDO_0017147	obsolete idiopathic pulmonary arterial hypertension				
http://purl.obolibrary.org/obo/MONDO_0017158	obsolete pulmonary hypertension with unclear multifactorial mechanism				
http://purl.obolibrary.org/obo/MONDO_0017163	obsolete hemolytic disease due to fetomaternal alloimmunization				
http://purl.obolibrary.org/obo/MONDO_0017166	obsolete rare tumor of salivary glands				
http://purl.obolibrary.org/obo/MONDO_0017253	obsolete anterior uveitis				
http://purl.obolibrary.org/obo/MONDO_0017254	obsolete posterior uveitis				
http://purl.obolibrary.org/obo/MONDO_0017270	obsolete autosomal ichthyosis syndrome				
http://purl.obolibrary.org/obo/MONDO_0017288	obsolete DICER1 syndrome				
http://purl.obolibrary.org/obo/MONDO_0017336	obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency				
http://purl.obolibrary.org/obo/MONDO_0017378	obsolete polymicrogyria-turricephaly-hypogenitalism syndrome				
http://purl.obolibrary.org/obo/MONDO_0017412	obsolete 2q31.1 microduplication syndrome				
http://purl.obolibrary.org/obo/MONDO_0017420	obsolete intercalary limb defects				
http://purl.obolibrary.org/obo/MONDO_0017422	obsolete adactyly of hand				
http://purl.obolibrary.org/obo/MONDO_0017423	obsolete split hand or/and split foot malformation				
http://purl.obolibrary.org/obo/MONDO_0017430	obsolete non-syndromic congenital joint dislocations				
http://purl.obolibrary.org/obo/MONDO_0017431	obsolete non-syndromic limb overgrowth				
http://purl.obolibrary.org/obo/MONDO_0017459	obsolete central polydactyly of toes				
http://purl.obolibrary.org/obo/MONDO_0017494	obsolete congenital absence of upper arm and forearm with hand present, unilateral				
http://purl.obolibrary.org/obo/MONDO_0017495	obsolete congenital absence of upper arm and forearm with hand present, bilateral				
http://purl.obolibrary.org/obo/MONDO_0017508	obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral				
http://purl.obolibrary.org/obo/MONDO_0017539	obsolete postaxial polydactyly of toes, unilateral				
http://purl.obolibrary.org/obo/MONDO_0017540	obsolete postaxial polydactyly of toes, bilateral				
http://purl.obolibrary.org/obo/MONDO_0017541	obsolete central polydactyly of toes, unilateral				
http://purl.obolibrary.org/obo/MONDO_0017542	obsolete central polydactyly of toes, bilateral				
http://purl.obolibrary.org/obo/MONDO_0017605	obsolete ependymal tumor				
http://purl.obolibrary.org/obo/MONDO_0017606	obsolete facial nerve palsy due to herpes zoster infection				
http://purl.obolibrary.org/obo/MONDO_0017637	obsolete rare parkinsonian syndrome due to intoxication				
http://purl.obolibrary.org/obo/MONDO_0017645	obsolete rare choreic movement disorder				
http://purl.obolibrary.org/obo/MONDO_0017647	obsolete postinfectious autoimmune disease with chorea				
http://purl.obolibrary.org/obo/MONDO_0017650	obsolete rare myoclonus				
http://purl.obolibrary.org/obo/MONDO_0017653	obsolete epilepsy and/or ataxia with myoclonus as major feature				
http://purl.obolibrary.org/obo/MONDO_0017664	obsolete rare genetic myoclonus				
http://purl.obolibrary.org/obo/MONDO_0017665	obsolete rare genetic disease with myoclonus as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017669	obsolete disease with diffuse palmoplantar keratoderma as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017681	obsolete erythrokeratoderma variabilis progressiva				
http://purl.obolibrary.org/obo/MONDO_0017710	obsolete congenital systemic veins anomaly				
http://purl.obolibrary.org/obo/MONDO_0017883	obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential				
http://purl.obolibrary.org/obo/MONDO_0017889	obsolete mucinous tubular and spindle cell renal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0017960	obsolete CANDLE syndrome				
http://purl.obolibrary.org/obo/MONDO_0017963	obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen				
http://purl.obolibrary.org/obo/MONDO_0017964	obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen				
http://purl.obolibrary.org/obo/MONDO_0017970	obsolete 46,XY disorder of sex development due to impaired androgen production				
http://purl.obolibrary.org/obo/MONDO_0017974	obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors				
http://purl.obolibrary.org/obo/MONDO_0017976	obsolete disorder of sex development of gynecological interest				
http://purl.obolibrary.org/obo/MONDO_0017977	obsolete 46,XY disorder of sex development of gynecological interest				
http://purl.obolibrary.org/obo/MONDO_0017996	obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency				
http://purl.obolibrary.org/obo/MONDO_0018052	obsolete hypoplastic tibiae-postaxial polydactyly syndrome				
http://purl.obolibrary.org/obo/MONDO_0018074	obsolete American trypanosomiasis				
http://purl.obolibrary.org/obo/MONDO_0018099	obsolete Whipple disease				
http://purl.obolibrary.org/obo/MONDO_0018107	obsolete idiopathic recurrent and disabling cutaneous herpes				
http://purl.obolibrary.org/obo/MONDO_0018110	obsolete lethal idiopathic viral infection				
http://purl.obolibrary.org/obo/MONDO_0018139	obsolete scleredema				
http://purl.obolibrary.org/obo/MONDO_0018179	obsolete bacterial toxic-shock syndrome				
http://purl.obolibrary.org/obo/MONDO_0018185	obsolete congenital anomaly of the great veins				
http://purl.obolibrary.org/obo/MONDO_0018194	obsolete sex cord-stromal tumor of testis				
http://purl.obolibrary.org/obo/MONDO_0018195	obsolete non-seminomatous germ cell tumor of testis				
http://purl.obolibrary.org/obo/MONDO_0018196	obsolete germ cell tumor of testis				
http://purl.obolibrary.org/obo/MONDO_0018238	obsolete rare bone disease related to a common gene or pathway defect				
http://purl.obolibrary.org/obo/MONDO_0018285	obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018335	obsolete deep dermatophytosis				
http://purl.obolibrary.org/obo/MONDO_0018336	obsolete Silver-Russell syndrome due to a point mutation				
http://purl.obolibrary.org/obo/MONDO_0018344	obsolete periodic paralysis with transient compartment-like syndrome				
http://purl.obolibrary.org/obo/MONDO_0018347	obsolete severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome				
http://purl.obolibrary.org/obo/MONDO_0018348	obsolete polyglucosan body myopathy type 1				
http://purl.obolibrary.org/obo/MONDO_0018351	obsolete adenocarcinoma of penis				
http://purl.obolibrary.org/obo/MONDO_0018366	obsolete mucinous adenocarcinoma of ovary				
http://purl.obolibrary.org/obo/MONDO_0018367	obsolete clear cell adenocarcinoma of ovary				
http://purl.obolibrary.org/obo/MONDO_0018389	obsolete male infertility due to gonadal dysgenesis or sperm disorder				
http://purl.obolibrary.org/obo/MONDO_0018390	obsolete male infertility due to sperm disorder				
http://purl.obolibrary.org/obo/MONDO_0018407	obsolete male infertility due to obstructive azoospermia of genetic origin				
http://purl.obolibrary.org/obo/MONDO_0018410	obsolete rare genetic female infertility				
http://purl.obolibrary.org/obo/MONDO_0018414	obsolete female infertility due to an implantation defect of genetic origin				
http://purl.obolibrary.org/obo/MONDO_0018427	obsolete fibrolamellar carcinoma				
http://purl.obolibrary.org/obo/MONDO_0018441	obsolete hepatitis delta				
http://purl.obolibrary.org/obo/MONDO_0018452	obsolete deficiency of the interleukin-36 receptor antagonist				
http://purl.obolibrary.org/obo/MONDO_0018457	obsolete rare genetic bone development disorder				
http://purl.obolibrary.org/obo/MONDO_0018482	obsolete squamous cell carcinoma of stomach				
http://purl.obolibrary.org/obo/MONDO_0018522	obsolete acinar cell carcinoma of pancreas				
http://purl.obolibrary.org/obo/MONDO_0018524	obsolete intraductal papillary mucinous carcinoma of pancreas				
http://purl.obolibrary.org/obo/MONDO_0018526	obsolete serous cystadenocarcinoma of pancreas				
http://purl.obolibrary.org/obo/MONDO_0018527	obsolete osteoclastic giant cell tumor of pancreas				
http://purl.obolibrary.org/obo/MONDO_0018532	obsolete adenocarcinoma of liver and intrahepatic biliary tract				
http://purl.obolibrary.org/obo/MONDO_0018539	obsolete rare epithelial tumor of small intestine				
http://purl.obolibrary.org/obo/MONDO_0018560	obsolete anterior urethral valve				
http://purl.obolibrary.org/obo/MONDO_0018568	obsolete COG2-CDG				
http://purl.obolibrary.org/obo/MONDO_0018619	obsolete hyperinsulinemic hypoglycaemia				
http://purl.obolibrary.org/obo/MONDO_0018651	obsolete lipoyl transferase 2 deficiency				
http://purl.obolibrary.org/obo/MONDO_0018665	obsolete X-linked acrogigantism due to a point mutation				
http://purl.obolibrary.org/obo/MONDO_0018691	obsolete endometrioid carcinoma of ovary				
http://purl.obolibrary.org/obo/MONDO_0018706	obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect				
http://purl.obolibrary.org/obo/MONDO_0018707	obsolete clear cell sarcoma of kidney				
http://purl.obolibrary.org/obo/MONDO_0018721	obsolete rare combined vascular malformation				
http://purl.obolibrary.org/obo/MONDO_0018723	obsolete rare vascular malformation of major vessels				
http://purl.obolibrary.org/obo/MONDO_0018750	obsolete class I glucose-6-phosphate dehydrogenase deficiency				
http://purl.obolibrary.org/obo/MONDO_0018773	obsolete autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome				
http://purl.obolibrary.org/obo/MONDO_0018774	obsolete erythrokeratodermia-cardiomyopathy syndrome				
http://purl.obolibrary.org/obo/MONDO_0018786	obsolete pontine autosomal dominant microangiopathy with leukoencephalopathy				
http://purl.obolibrary.org/obo/MONDO_0018788	obsolete COL4A1 or COL4A2-related cerebral small vessel disease				
http://purl.obolibrary.org/obo/MONDO_0018789	obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency				
http://purl.obolibrary.org/obo/MONDO_0018812	obsolete MSH3-related attenuated familial adenomatous polyposis				
http://purl.obolibrary.org/obo/MONDO_0018819	obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome				
http://purl.obolibrary.org/obo/MONDO_0018823	obsolete X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome				
http://purl.obolibrary.org/obo/MONDO_0018825	obsolete PYCR2-related microcephaly-progressive leukoencephalopathy				
http://purl.obolibrary.org/obo/MONDO_0018833	obsolete rare idiopathic macular telangiectasia				
http://purl.obolibrary.org/obo/MONDO_0018834	obsolete adenylosuccinate synthetase-like 1-related distal myopathy				
http://purl.obolibrary.org/obo/MONDO_0019055	obsolete mitochondrial disease				
http://purl.obolibrary.org/obo/MONDO_0019089	obsolete adult acute respiratory distress syndrome				
http://purl.obolibrary.org/obo/MONDO_0019123	obsolete continuous spikes and waves during sleep				
http://purl.obolibrary.org/obo/MONDO_0019184	obsolete ankylostomiasis				
http://purl.obolibrary.org/obo/MONDO_0019206	obsolete sparse hair-short stature-skin anomalies syndrome				
http://purl.obolibrary.org/obo/MONDO_0019277	obsolete epidermal appendage anomaly				
http://purl.obolibrary.org/obo/MONDO_0019279	obsolete alopecia				
http://purl.obolibrary.org/obo/MONDO_0019291	obsolete rare genetic dermis disorder				
http://purl.obolibrary.org/obo/MONDO_0019331	obsolete rare form of salmonellosis				
http://purl.obolibrary.org/obo/MONDO_0019389	obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome				
http://purl.obolibrary.org/obo/MONDO_0019400	obsolete testicular seminomatous germ cell tumor				
http://purl.obolibrary.org/obo/MONDO_0019425	obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome				
http://purl.obolibrary.org/obo/MONDO_0019459	obsolete myeloid sarcoma				
http://purl.obolibrary.org/obo/MONDO_0019477	obsolete angioimmunoblastic T-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0019482	obsolete dendritic cell sarcoma not otherwise specified				
http://purl.obolibrary.org/obo/MONDO_0019495	obsolete yolk sac tumor				
http://purl.obolibrary.org/obo/MONDO_0019510	obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia				
http://purl.obolibrary.org/obo/MONDO_0019511	obsolete autosomal dominant medullary cystic kidney disease with hyperuricemia				
http://purl.obolibrary.org/obo/MONDO_0019566	obsolete Klippel-Trenaunay syndrome				
http://purl.obolibrary.org/obo/MONDO_0019594	obsolete 46,XY disorder of sex development due to a testosterone synthesis defect				
http://purl.obolibrary.org/obo/MONDO_0019608	obsolete 46,XX disorder of sex development induced by maternal-derived androgen				
http://purl.obolibrary.org/obo/MONDO_0019616	obsolete germinoma of the central nervous system				
http://purl.obolibrary.org/obo/MONDO_0019657	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes				
http://purl.obolibrary.org/obo/MONDO_0019658	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation				
http://purl.obolibrary.org/obo/MONDO_0019664	obsolete short rib-polydactyly syndrome, Verma-Naumoff type				
http://purl.obolibrary.org/obo/MONDO_0019822	obsolete arterial duct anomaly				
http://purl.obolibrary.org/obo/MONDO_0019841	obsolete pituitary hormone defiency from vascular origin				
http://purl.obolibrary.org/obo/MONDO_0019843	obsolete pituitary hormone deficiency secondary to a granulomatous disease				
http://purl.obolibrary.org/obo/MONDO_0020019	obsolete digestive tract malformation				
http://purl.obolibrary.org/obo/MONDO_0020039	obsolete 46,XX disorder of sex development induced by androgens excess				
http://purl.obolibrary.org/obo/MONDO_0020052	obsolete partial autosomal trisomy/tetrasomy				
http://purl.obolibrary.org/obo/MONDO_0020053	obsolete total autosomal monosomy				
http://purl.obolibrary.org/obo/MONDO_0020054	obsolete partial autosomal monosomy				
http://purl.obolibrary.org/obo/MONDO_0020055	obsolete autosomal uniparental disomy				
http://purl.obolibrary.org/obo/MONDO_0020059	obsolete gonosome number anomaly				
http://purl.obolibrary.org/obo/MONDO_0020062	obsolete chromosome X structural anomaly				
http://purl.obolibrary.org/obo/MONDO_0020081	obsolete macrophage or histiocytic tumor				
http://purl.obolibrary.org/obo/MONDO_0020091	obsolete male infertility due to obstructive azoospermia				
http://purl.obolibrary.org/obo/MONDO_0020131	obsolete malformation of the cerebellar hemispheres				
http://purl.obolibrary.org/obo/MONDO_0020137	obsolete frontotemporal degeneration with dementia				
http://purl.obolibrary.org/obo/MONDO_0020142	obsolete metabolic disease with dementia				
http://purl.obolibrary.org/obo/MONDO_0020155	obsolete eyelid border anomaly				
http://purl.obolibrary.org/obo/MONDO_0020177	obsolete pigmented palpebral tumor				
http://purl.obolibrary.org/obo/MONDO_0020202	obsolete conjunctival lymphangiectasia				
http://purl.obolibrary.org/obo/MONDO_0020209	obsolete rare hyperopia and astigmatism				
http://purl.obolibrary.org/obo/MONDO_0020251	obsolete rare strabismus and restriction syndrome				
http://purl.obolibrary.org/obo/MONDO_0020260	obsolete myasthenic syndrome with eye involvement				
http://purl.obolibrary.org/obo/MONDO_0020271	obsolete phakomatosis with eye involvement				
http://purl.obolibrary.org/obo/MONDO_0020284	obsolete heart position anomaly				
http://purl.obolibrary.org/obo/MONDO_0020288	obsolete atrioventricular valve anomaly				
http://purl.obolibrary.org/obo/MONDO_0020471	obsolete pituitary adenoma				
http://purl.obolibrary.org/obo/MONDO_0044226	obsolete defective interfering particle induction, control of				
http://purl.obolibrary.org/obo/CL_0008030	obsolete excitatory neuron				
http://purl.obolibrary.org/obo/MONDO_0020719	obsolete susceptibility to Hirschsprung disease				
http://purl.obolibrary.org/obo/ECTO_9000266	obsolete chemical entity exposure				
http://purl.obolibrary.org/obo/ECTO_9001021	obsolete exposure to chlorine atom				
http://purl.obolibrary.org/obo/MONDO_0100243	obsolete inherited paroxysmal nocturnal hemoglobinuria				
http://purl.obolibrary.org/obo/MONDO_0700042	obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency				
http://purl.obolibrary.org/obo/MONDO_0700044	obsolete TUBB2A-related tubulinopathy				
http://purl.obolibrary.org/obo/MONDO_0800197	obsolete achromatopsia 6				
http://purl.obolibrary.org/obo/MONDO_0800199	obsolete Angelman syndrome chromosome region				
http://purl.obolibrary.org/obo/MONDO_0800294	obsolete progressive encephalomyelitis with rigidity				
http://purl.obolibrary.org/obo/MONDO_0800297	obsolete neuronal ceroid lipofuscinosis, late infantile				
http://purl.obolibrary.org/obo/MONDO_0800303	obsolete hypophosphatasia, perinatal lethal				
http://purl.obolibrary.org/obo/MONDO_0800316	obsolete contiguous ABCD1/DXS1375E deletion syndrome				
http://purl.obolibrary.org/obo/MONDO_0800342	obsolete cap myopathy 2				
http://purl.obolibrary.org/obo/MONDO_0800343	obsolete rhegmatogenous retinal detachment, autosomal dominant				
http://purl.obolibrary.org/obo/MONDO_0850090	obsolete fibrosis-neurodegeneration-cerebral angiomatosis syndrome				
http://purl.obolibrary.org/obo/MONDO_0957115	obsolete neurological muscular channelopathy due to a genetic ryanodine receptor defect				
http://purl.obolibrary.org/obo/MONDO_0957221	obsolete spastic paraplegia 70, autosomal recessive				
http://purl.obolibrary.org/obo/MONDO_0957404	obsolete pyogenic autoinflammatory syndrome of childhood				
http://purl.obolibrary.org/obo/MONDO_0957426	obsolete autosomal recessive hyper-IgE syndrome				
http://purl.obolibrary.org/obo/HP_0000001	All				
http://purl.obolibrary.org/obo/HP_0000735	obsolete Impaired social interactions				
http://purl.obolibrary.org/obo/HP_0001180	obsolete Hand oligodactyly				
http://purl.obolibrary.org/obo/HP_0001322	obsolete Brain very small				
http://purl.obolibrary.org/obo/HP_0002438	obsolete Cerebellar malformation				
http://purl.obolibrary.org/obo/HP_0002459	obsolete Dysautonomia				
http://purl.obolibrary.org/obo/HP_0002648	obsolete Abnormality of calvarial morphology				
http://purl.obolibrary.org/obo/HP_0003063	obsolete Abnormality of the humerus				
http://purl.obolibrary.org/obo/HP_0004366	obsolete Abnormality of glycolysis				
http://purl.obolibrary.org/obo/HP_0006919	obsolete Abnormal aggressive, impulsive or violent behavior				
http://purl.obolibrary.org/obo/HP_0009773	obsolete Symphalangism affecting the phalanges of the hand				
http://purl.obolibrary.org/obo/HP_0010985	obsolete Gonosomal inheritance				
http://purl.obolibrary.org/obo/HP_0011016	obsolete Abnormality of urine glucose concentration				
http://purl.obolibrary.org/obo/HP_0012369	obsolete Abnormal malar bone morphology				
http://purl.obolibrary.org/obo/HP_0012374	obsolete Abnormal globe morphology				
http://purl.obolibrary.org/obo/UBERON_3011045	obsolete gasserian ganglion				
http://purl.obolibrary.org/obo/BFO_0000001	entity				
http://purl.obolibrary.org/obo/FOODON_03411013	plant used for producing extract or concentrate				
http://purl.obolibrary.org/obo/FOODON_03420279	obsolete: pollen				
http://purl.obolibrary.org/obo/GO_0120038	obsolete plasma membrane bounded cell projection part				
http://purl.obolibrary.org/obo/MONDO_0021196	obsolete disease by molecular activity disrupted				
http://purl.obolibrary.org/obo/MONDO_0021684	obsolete infectious disease of central nervous system				
http://purl.obolibrary.org/obo/MONDO_0024581	obsolete MONDO:0024581				
http://purl.obolibrary.org/obo/MONDO_0020676	obsolete disorder of central nervous system or retinal vasculature				
http://purl.obolibrary.org/obo/MONDO_0957001	obsolete hereditary mixed dermis disorder				
http://purl.obolibrary.org/obo/MONDO_0957024	obsolete hereditary 46,XX disorder of sex development				
http://purl.obolibrary.org/obo/CL_0000003	obsolete native cell				
http://purl.obolibrary.org/obo/CL_0000055	obsolete non-terminally differentiated cell				
http://purl.obolibrary.org/obo/CL_0000161	obsolete acid secreting cell				
http://purl.obolibrary.org/obo/CL_0000181	obsolete metabolising cell				
http://purl.obolibrary.org/obo/CL_0000213	obsolete lining cell				
http://purl.obolibrary.org/obo/CL_0000215	obsolete barrier cell				
http://purl.obolibrary.org/obo/CL_0000243	obsolete glial cell (sensu Vertebrata)				
http://purl.obolibrary.org/obo/CL_0000293	obsolete structural cell				
http://purl.obolibrary.org/obo/CL_0000381	obsolete neurosecretory neuron				
http://purl.obolibrary.org/obo/CL_0000402	obsolete CNS interneuron				
http://purl.obolibrary.org/obo/CL_0000512	obsolete paracrine cell				
http://purl.obolibrary.org/obo/CL_0000555	obsolete neuronal brush cell				
http://purl.obolibrary.org/obo/CL_0000627	obsolete transporting cell				
http://purl.obolibrary.org/obo/CL_0002371	obsolete somatic cell				
http://purl.obolibrary.org/obo/CL_0002609	obsolete neuron of cerebral cortex				
http://purl.obolibrary.org/obo/CL_1000416	obsolete myoepithelial cell of lactiferous gland				
http://purl.obolibrary.org/obo/HP_0100786	obsolete Hypersomnia				
http://purl.obolibrary.org/obo/MONDO_0000006	obsolete alopecia-mental retardation syndrome				
http://purl.obolibrary.org/obo/MONDO_0000007	obsolete atypical Mycobacteriosis, familial				
http://purl.obolibrary.org/obo/MONDO_0000012	obsolete choreoathetosis				
http://purl.obolibrary.org/obo/MONDO_0000019	obsolete ectodermal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000046	obsolete hypouricemia, renal				
http://purl.obolibrary.org/obo/MONDO_0000106	obsolete apnea				
http://purl.obolibrary.org/obo/MONDO_0000109	obsolete basal ganglia calcification, idiopathic				
http://purl.obolibrary.org/obo/MONDO_0000113	obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome				
http://purl.obolibrary.org/obo/MONDO_0000116	obsolete cortical dysplasia, complex, with other brain malformations				
http://purl.obolibrary.org/obo/MONDO_0000157	obsolete episodic pain syndrome, familial				
http://purl.obolibrary.org/obo/MONDO_0000161	obsolete adrenal hyperplasia				
http://purl.obolibrary.org/obo/MONDO_0000178	obsolete breasts and/or nipples, aplasia or hypoplasia of				
http://purl.obolibrary.org/obo/MONDO_0000196	obsolete ataxia-oculomotor apraxia				
http://purl.obolibrary.org/obo/MONDO_0000216	obsolete congenital bilateral aplasia of vas deferens				
http://purl.obolibrary.org/obo/MONDO_0000312	obsolete enlarged vestibular aqueduct				
http://purl.obolibrary.org/obo/MONDO_0000562	obsolete hypomyelinating leukoencephalopathy				
http://purl.obolibrary.org/obo/MONDO_0006695	obsolete cervical rib syndrome				
http://purl.obolibrary.org/obo/MONDO_0002506	obsolete early myoclonic encephalopathy				
http://purl.obolibrary.org/obo/MONDO_0002723	obsolete cutaneous mastocytosis				
http://purl.obolibrary.org/obo/MONDO_0002725	obsolete diffuse cutaneous mastocytosis				
http://purl.obolibrary.org/obo/MONDO_0002964	obsolete non-Langerhans-cell histiocytosis				
http://purl.obolibrary.org/obo/MONDO_0003511	obsolete testicular germ cell cancer				
http://purl.obolibrary.org/obo/MONDO_0003807	obsolete follicular thyroid adenoma				
http://purl.obolibrary.org/obo/MONDO_0004676	obsolete progressive myoclonus epilepsy				
http://purl.obolibrary.org/obo/MONDO_0004683	obsolete Evans' syndrome				
http://purl.obolibrary.org/obo/MONDO_0004711	obsolete amyloidosis				
http://purl.obolibrary.org/obo/MONDO_0004908	obsolete galactosemia				
http://purl.obolibrary.org/obo/MONDO_0015979	obsolete hereditary predisposition to infections				
http://purl.obolibrary.org/obo/MONDO_0016388	obsolete bone sarcoma				
http://purl.obolibrary.org/obo/MONDO_0016637	obsolete thrombotic disorder due to an acquired platelet anomaly				
http://purl.obolibrary.org/obo/MONDO_0017027	obsolete primary interstitial lung disease specific to adulthood				
http://purl.obolibrary.org/obo/MONDO_0019743	obsolete nephropathy secondary to a storage or other metabolic disease				
http://purl.obolibrary.org/obo/MONDO_0011277	obsolete leukoregulin				
http://purl.obolibrary.org/obo/MONDO_0011278	obsolete bile duct cysts				
http://purl.obolibrary.org/obo/MONDO_0011292	obsolete dermatitis, atopic				
http://purl.obolibrary.org/obo/MONDO_0011319	obsolete activator of liver function 1				
http://purl.obolibrary.org/obo/MONDO_0011378	obsolete CFM1				
http://purl.obolibrary.org/obo/MONDO_0011379	obsolete medullary cystic kidney disease 2				
http://purl.obolibrary.org/obo/MONDO_0011388	obsolete cervical cancer				
http://purl.obolibrary.org/obo/MONDO_0011526	obsolete Sebastian syndrome				
http://purl.obolibrary.org/obo/MONDO_0011543	obsolete BRCA3				
http://purl.obolibrary.org/obo/MONDO_0011554	obsolete deafness, nonsyndromic, modifier 1				
http://purl.obolibrary.org/obo/MONDO_0011623	obsolete spinocerebellar ataxia, autosomal recessive 1				
http://purl.obolibrary.org/obo/MONDO_0011649	obsolete AVSD 1				
http://purl.obolibrary.org/obo/MONDO_0011692	obsolete basal ganglia calcification, idiopathic, 2				
http://purl.obolibrary.org/obo/MONDO_0011704	obsolete glaucoma 1, open angle, B				
http://purl.obolibrary.org/obo/MONDO_0011707	obsolete familial dyskinesia and facial myokymia				
http://purl.obolibrary.org/obo/MONDO_0011750	obsolete insulinoma tumor suppressor gene locus				
http://purl.obolibrary.org/obo/MONDO_0011763	obsolete T-box 24				
http://purl.obolibrary.org/obo/MONDO_0011769	obsolete familial aortic dissection				
http://purl.obolibrary.org/obo/MONDO_0011940	obsolete Mycobacterium tuberculosis, susceptibility to				
http://purl.obolibrary.org/obo/MONDO_0011947	obsolete HNP1				
http://purl.obolibrary.org/obo/MONDO_0012070	obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G				
http://purl.obolibrary.org/obo/MONDO_0012140	obsolete pulmonary function				
http://purl.obolibrary.org/obo/MONDO_0012189	obsolete Amish infantile epilepsy syndrome				
http://purl.obolibrary.org/obo/MONDO_0012234	obsolete LFS3				
http://purl.obolibrary.org/obo/MONDO_0012281	obsolete sarcoidosis, early-onset				
http://purl.obolibrary.org/obo/MONDO_0012337	obsolete glaucoma 1, open angle, I				
http://purl.obolibrary.org/obo/MONDO_0012424	obsolete heat-shock RNA 1				
http://purl.obolibrary.org/obo/MONDO_0012461	obsolete bulimia nervosa, susceptibility to, 2				
http://purl.obolibrary.org/obo/MONDO_0012616	obsolete MRT8				
http://purl.obolibrary.org/obo/MONDO_0012646	obsolete glaucoma 1, open angle, H				
http://purl.obolibrary.org/obo/MONDO_0012649	obsolete FTSD				
http://purl.obolibrary.org/obo/MONDO_0012663	obsolete Plasmodium falciparum fever episodes quantitative trait locus 1				
http://purl.obolibrary.org/obo/MONDO_0013270	obsolete Rett syndrome, congenital variant				
http://purl.obolibrary.org/obo/MONDO_0013346	obsolete brain calcification, Rajab type				
http://purl.obolibrary.org/obo/MONDO_0013399	obsolete cardiomyopathy, dilated, 1T				
http://purl.obolibrary.org/obo/MONDO_0013451	obsolete progressive myoclonic epilepsy type 5				
http://purl.obolibrary.org/obo/MONDO_0015106	obsolete rare urogenital disease				
http://purl.obolibrary.org/obo/MONDO_0015133	obsolete quantitative and/or qualitative congenital phagocyte defect				
http://purl.obolibrary.org/obo/MONDO_0015418	obsolete lateral facial cleft				
http://purl.obolibrary.org/obo/MONDO_0015497	obsolete hypoglossia/aglossia				
http://purl.obolibrary.org/obo/MONDO_0015505	obsolete tracheal anomaly				
http://purl.obolibrary.org/obo/MONDO_0015676	obsolete hyperandrogenism due to cortisone reductase deficiency				
http://purl.obolibrary.org/obo/MONDO_0015789	obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations				
http://purl.obolibrary.org/obo/MONDO_0015875	obsolete rare non-malformative uterine adnexal disease				
http://purl.obolibrary.org/obo/MONDO_0015922	obsolete channelopathy with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0015976	obsolete hyper-IgM syndrome without susceptibility to opportunistic infections				
http://purl.obolibrary.org/obo/MONDO_0015980	obsolete rare genetic gynecological and obstetrical diseases				
http://purl.obolibrary.org/obo/MONDO_0016116	obsolete generalized bulbospinal muscular atrophy				
http://purl.obolibrary.org/obo/MONDO_0016149	obsolete qualitative or quantitative defects of merosin				
http://purl.obolibrary.org/obo/MONDO_0016150	obsolete qualitative or quantitative defects of integrin alpha-7				
http://purl.obolibrary.org/obo/MONDO_0016157	obsolete qualitative or quantitative defects of fukutin				
http://purl.obolibrary.org/obo/MONDO_0016182	obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase				
http://purl.obolibrary.org/obo/MONDO_0016200	obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase				
http://purl.obolibrary.org/obo/MONDO_0016320	obsolete rare hereditary thrombophilia				
http://purl.obolibrary.org/obo/MONDO_0016538	obsolete hypotonia-cystinuria syndrome type 1				
http://purl.obolibrary.org/obo/MONDO_0016579	obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis				
http://purl.obolibrary.org/obo/MONDO_0016816	obsolete Leigh syndrome with nephrotic syndrome				
http://purl.obolibrary.org/obo/MONDO_0016900	obsolete partial deletion of the long arm of chromosome 1				
http://purl.obolibrary.org/obo/MONDO_0016920	obsolete partial deletion of the long arm of chromosome 22				
http://purl.obolibrary.org/obo/MONDO_0017083	obsolete lipoma associated with neurospinal dysraphism				
http://purl.obolibrary.org/obo/MONDO_0017144	obsolete alpha-thalassemia and related diseases				
http://purl.obolibrary.org/obo/MONDO_0017146	obsolete sickle cell disease and related diseases				
http://purl.obolibrary.org/obo/MONDO_0017159	obsolete syndrome with pulmonary hypertension as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017302	obsolete qualitative or quantitative defects of troponin				
http://purl.obolibrary.org/obo/MONDO_0017333	obsolete hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism				
http://purl.obolibrary.org/obo/MONDO_0017397	obsolete constitutional dyserythropoietic anemia				
http://purl.obolibrary.org/obo/MONDO_0017745	obsolete disorder of O-mannosylglycan synthesis				
http://purl.obolibrary.org/obo/MONDO_0017962	obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess				
http://purl.obolibrary.org/obo/MONDO_0018119	obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement				
http://purl.obolibrary.org/obo/MONDO_0018144	obsolete congenital myasthenic syndromes with glycosylation defect				
http://purl.obolibrary.org/obo/MONDO_0018236	obsolete dysostosis with limb and face anomalies as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018239	obsolete aggrecan-related bone disorder				
http://purl.obolibrary.org/obo/MONDO_0018262	obsolete fetal anticonvulsant syndrome				
http://purl.obolibrary.org/obo/MONDO_0018277	obsolete congenital muscular dystrophy with cerebellar involvement				
http://purl.obolibrary.org/obo/MONDO_0018279	obsolete congenital muscular dystrophy without intellectual disability				
http://purl.obolibrary.org/obo/MONDO_0018283	obsolete primary qualitative or quantitative defects of alpha-dystroglycan				
http://purl.obolibrary.org/obo/MONDO_0018289	obsolete congenital disorder of glycosylation with dilated cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0018291	obsolete congenital disorder of glycosylation with intestinal involvement				
http://purl.obolibrary.org/obo/MONDO_0018395	obsolete male infertility due to sperm motility disorder				
http://purl.obolibrary.org/obo/MONDO_0018550	obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder				
http://purl.obolibrary.org/obo/MONDO_0018701	obsolete congenital nemaline myopathy				
http://purl.obolibrary.org/obo/MONDO_0018718	obsolete vascular tumor with associated anomalies				
http://purl.obolibrary.org/obo/MONDO_0018726	obsolete immunodeficiency due to a complement cascade component deficiency				
http://purl.obolibrary.org/obo/MONDO_0018758	obsolete familial patent arterial duct				
http://purl.obolibrary.org/obo/MONDO_0018779	obsolete hypercontractile muscle stiffness syndrome				
http://purl.obolibrary.org/obo/MONDO_0019041	obsolete rare genetic inherited tumor				
http://purl.obolibrary.org/obo/MONDO_0019486	obsolete myoclonic epilepsy of infancy				
http://purl.obolibrary.org/obo/MONDO_0019541	obsolete non-infectious posterior uveitis				
http://purl.obolibrary.org/obo/MONDO_0019714	obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy				
http://purl.obolibrary.org/obo/MONDO_0019747	obsolete hematological disorder with renal involvement				
http://purl.obolibrary.org/obo/MONDO_0020057	obsolete uniparental disomy of paternal origin				
http://purl.obolibrary.org/obo/MONDO_0020180	obsolete palpebral piliary tumor				
http://purl.obolibrary.org/obo/MONDO_0020220	obsolete corneoiridogoniodysgenesis				
http://purl.obolibrary.org/obo/MONDO_0020343	obsolete alpha-crystallinopathy				
http://purl.obolibrary.org/obo/MONDO_0020346	obsolete synaptic congenital myasthenic syndrome				
http://purl.obolibrary.org/obo/MONDO_0020670	obsolete antithrombin deficiency type 2				
http://purl.obolibrary.org/obo/MONDO_0020608	obsolete blood group--ahonen				
http://purl.obolibrary.org/obo/MONDO_0020609	obsolete blood group, colton system				
http://purl.obolibrary.org/obo/MONDO_0020610	obsolete blood group, diego system				
http://purl.obolibrary.org/obo/MONDO_0020611	obsolete blood group--kell system				
http://purl.obolibrary.org/obo/MONDO_0020612	obsolete blood group, kidd system				
http://purl.obolibrary.org/obo/MONDO_0020613	obsolete blood group--lke				
http://purl.obolibrary.org/obo/MONDO_0020614	obsolete blood group--lutheran system				
http://purl.obolibrary.org/obo/MONDO_0020615	obsolete blood group system, landsteiner-wiener				
http://purl.obolibrary.org/obo/MONDO_0020616	obsolete blood group, mn				
http://purl.obolibrary.org/obo/MONDO_0020618	obsolete blood group--private systems				
http://purl.obolibrary.org/obo/MONDO_0020619	obsolete blood group, langereis system				
http://purl.obolibrary.org/obo/MONDO_0020620	obsolete blood group, ss				
http://purl.obolibrary.org/obo/MONDO_0020621	obsolete blood group--scianna system				
http://purl.obolibrary.org/obo/MONDO_0020622	obsolete blood group--stoltzfus system				
http://purl.obolibrary.org/obo/MONDO_0020623	obsolete blood group--ul system				
http://purl.obolibrary.org/obo/MONDO_0020624	obsolete blood group--waldner type				
http://purl.obolibrary.org/obo/MONDO_0020625	obsolete blood group--wright antigen				
http://purl.obolibrary.org/obo/MONDO_0020626	obsolete yt blood group antigen				
http://purl.obolibrary.org/obo/MONDO_0020627	obsolete epileptic encephalopathy, infantile or early childhood				
http://purl.obolibrary.org/obo/MONDO_0020643	obsolete autism susceptibility 1				
http://purl.obolibrary.org/obo/MONDO_0020659	obsolete upper tract urothelial carcinoma				
http://purl.obolibrary.org/obo/MONDO_0020668	obsolete spastic paraplegia 5B				
http://purl.obolibrary.org/obo/MONDO_0020671	obsolete susceptibility to ischemic stroke				
http://purl.obolibrary.org/obo/MONDO_0020758	obsolete MONDO:0020758				
http://purl.obolibrary.org/obo/GO_0005342	obsolete organic acid transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0005355	obsolete glucose transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0005575	cellular_component				
http://purl.obolibrary.org/obo/GO_0005615	obsolete extracellular space				
http://purl.obolibrary.org/obo/GO_0005623	obsolete cell				
http://purl.obolibrary.org/obo/GO_0005724	obsolete nuclear telomeric heterochromatin				
http://purl.obolibrary.org/obo/GO_0005746	obsolete mitochondrial respirasome				
http://purl.obolibrary.org/obo/GO_0005747	obsolete mitochondrial respiratory chain complex I				
http://purl.obolibrary.org/obo/GO_0005750	obsolete mitochondrial respiratory chain complex III				
http://purl.obolibrary.org/obo/GO_0005967	obsolete mitochondrial pyruvate dehydrogenase complex				
http://purl.obolibrary.org/obo/GO_0006073	obsolete cellular glucan metabolic process				
http://purl.obolibrary.org/obo/GO_0006142	obsolete regulation of pyrimidine nucleobase metabolic process				
http://purl.obolibrary.org/obo/GO_0006165	obsolete nucleoside diphosphate phosphorylation				
http://purl.obolibrary.org/obo/GO_0006486	obsolete protein glycosylation				
http://purl.obolibrary.org/obo/GO_0006586	obsolete indolalkylamine metabolic process				
http://purl.obolibrary.org/obo/GO_0006643	obsolete membrane lipid metabolic process				
http://purl.obolibrary.org/obo/GO_0006662	obsolete glycerol ether metabolic process				
http://purl.obolibrary.org/obo/GO_0006725	obsolete cellular aromatic compound metabolic process				
http://purl.obolibrary.org/obo/GO_0006732	obsolete coenzyme metabolic process				
http://purl.obolibrary.org/obo/GO_0006733	obsolete oxidoreduction coenzyme metabolic process				
http://purl.obolibrary.org/obo/GO_0006757	obsolete ATP generation from ADP				
http://purl.obolibrary.org/obo/GO_0006767	obsolete water-soluble vitamin metabolic process				
http://purl.obolibrary.org/obo/GO_0006775	obsolete fat-soluble vitamin metabolic process				
http://purl.obolibrary.org/obo/GO_0006807	obsolete nitrogen compound metabolic process				
http://purl.obolibrary.org/obo/GO_0006859	obsolete extracellular carbohydrate transport				
http://purl.obolibrary.org/obo/GO_0006875	obsolete intracellular metal ion homeostasis				
http://purl.obolibrary.org/obo/GO_0006928	obsolete movement of cell or subcellular component				
http://purl.obolibrary.org/obo/GO_0007568	obsolete aging				
http://purl.obolibrary.org/obo/GO_0008144	obsolete drug binding				
http://purl.obolibrary.org/obo/GO_0009066	obsolete aspartate family amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_0009068	obsolete aspartate family amino acid catabolic process				
http://purl.obolibrary.org/obo/GO_0009069	obsolete serine family amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_0009078	obsolete pyruvate family amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_0009108	obsolete coenzyme biosynthetic process				
http://purl.obolibrary.org/obo/GO_0018904	obsolete ether metabolic process				
http://purl.obolibrary.org/obo/GO_0019220	obsolete regulation of phosphate metabolic process				
http://purl.obolibrary.org/obo/GO_0019400	obsolete alditol metabolic process				
http://purl.obolibrary.org/obo/GO_0019439	obsolete aromatic compound catabolic process				
http://purl.obolibrary.org/obo/GO_0022610	obsolete biological adhesion				
http://purl.obolibrary.org/obo/GO_0031226	obsolete intrinsic component of plasma membrane				
http://purl.obolibrary.org/obo/GO_0031301	obsolete integral component of organelle membrane				
http://purl.obolibrary.org/obo/GO_0031305	obsolete integral component of mitochondrial inner membrane				
http://purl.obolibrary.org/obo/GO_0031933	obsolete telomeric heterochromatin				
http://purl.obolibrary.org/obo/GO_0032770	obsolete positive regulation of monooxygenase activity				
http://purl.obolibrary.org/obo/GO_0033218	obsolete amide binding				
http://purl.obolibrary.org/obo/GO_0033683	obsolete nucleotide-excision repair, DNA incision				
http://purl.obolibrary.org/obo/GO_0034637	obsolete cellular carbohydrate biosynthetic process				
http://purl.obolibrary.org/obo/GO_0034641	obsolete cellular nitrogen compound metabolic process				
http://purl.obolibrary.org/obo/GO_0034645	obsolete cellular macromolecule biosynthetic process				
http://purl.obolibrary.org/obo/GO_0042886	obsolete amide transport				
http://purl.obolibrary.org/obo/GO_0042887	obsolete amide transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0043413	obsolete macromolecule glycosylation				
http://purl.obolibrary.org/obo/GO_0043471	obsolete regulation of cellular carbohydrate catabolic process				
http://purl.obolibrary.org/obo/GO_0044108	obsolete cellular alcohol biosynthetic process				
http://purl.obolibrary.org/obo/GO_0044247	obsolete cellular polysaccharide catabolic process				
http://purl.obolibrary.org/obo/GO_0044248	obsolete cellular catabolic process				
http://purl.obolibrary.org/obo/GO_0044249	obsolete cellular biosynthetic process				
http://purl.obolibrary.org/obo/GO_0044255	obsolete cellular lipid metabolic process				
http://purl.obolibrary.org/obo/GO_0044260	obsolete cellular macromolecule metabolic process				
http://purl.obolibrary.org/obo/GO_0044262	obsolete cellular carbohydrate metabolic process				
http://purl.obolibrary.org/obo/GO_0044264	obsolete cellular polysaccharide metabolic process				
http://purl.obolibrary.org/obo/GO_0044270	obsolete cellular nitrogen compound catabolic process				
http://purl.obolibrary.org/obo/GO_0044421	obsolete extracellular region part				
http://purl.obolibrary.org/obo/GO_0044439	obsolete peroxisomal part				
http://purl.obolibrary.org/obo/GO_0044449	obsolete contractile fiber part				
http://purl.obolibrary.org/obo/GO_0044455	obsolete mitochondrial membrane part				
http://purl.obolibrary.org/obo/GO_0044456	obsolete synapse part				
http://purl.obolibrary.org/obo/GO_0044464	obsolete cell part				
http://purl.obolibrary.org/obo/GO_0046916	obsolete intracellular transition metal ion homeostasis				
http://purl.obolibrary.org/obo/GO_0046939	obsolete nucleotide phosphorylation				
http://purl.obolibrary.org/obo/GO_0051091	obsolete positive regulation of DNA-binding transcription factor activity				
http://purl.obolibrary.org/obo/GO_0051092	obsolete positive regulation of NF-kappaB transcription factor activity				
http://purl.obolibrary.org/obo/GO_0051181	obsolete cofactor transport				
http://purl.obolibrary.org/obo/GO_0051186	obsolete cofactor metabolic process				
http://purl.obolibrary.org/obo/GO_0051188	obsolete cofactor biosynthetic process				
http://purl.obolibrary.org/obo/GO_0051196	obsolete regulation of coenzyme metabolic process				
http://purl.obolibrary.org/obo/GO_0051350	obsolete negative regulation of lyase activity				
http://purl.obolibrary.org/obo/GO_0055065	obsolete metal ion homeostasis				
http://purl.obolibrary.org/obo/GO_0055067	obsolete monovalent inorganic cation homeostasis				
http://purl.obolibrary.org/obo/GO_0055069	obsolete zinc ion homeostasis				
http://purl.obolibrary.org/obo/GO_0055072	obsolete iron ion homeostasis				
http://purl.obolibrary.org/obo/GO_0055114	obsolete oxidation-reduction process				
http://purl.obolibrary.org/obo/GO_0070469	obsolete respirasome				
http://purl.obolibrary.org/obo/GO_0071702	obsolete organic substance transport				
http://purl.obolibrary.org/obo/GO_0071704	obsolete organic substance metabolic process				
http://purl.obolibrary.org/obo/GO_0072503	obsolete cellular divalent inorganic cation homeostasis				
http://purl.obolibrary.org/obo/GO_0097384	obsolete cellular lipid biosynthetic process				
http://purl.obolibrary.org/obo/GO_0098651	obsolete basement membrane collagen trimer				
http://purl.obolibrary.org/obo/GO_0099531	obsolete presynaptic process involved in chemical synaptic transmission				
http://purl.obolibrary.org/obo/GO_1901160	obsolete primary amino compound metabolic process				
http://purl.obolibrary.org/obo/GO_1901575	obsolete organic substance catabolic process				
http://purl.obolibrary.org/obo/GO_1901576	obsolete organic substance biosynthetic process				
http://purl.obolibrary.org/obo/GO_1901615	obsolete organic hydroxy compound metabolic process				
http://purl.obolibrary.org/obo/GO_1901617	obsolete organic hydroxy compound biosynthetic process				
http://purl.obolibrary.org/obo/GO_1902221	obsolete erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_1902222	obsolete erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process				
http://purl.obolibrary.org/obo/GO_1903825	obsolete organic acid transmembrane transport				
http://purl.obolibrary.org/obo/GO_2000112	obsolete regulation of cellular macromolecule biosynthetic process				
http://purl.obolibrary.org/obo/GO_2000113	obsolete negative regulation of cellular macromolecule biosynthetic process				
http://purl.obolibrary.org/obo/GO_2001020	obsolete regulation of response to DNA damage stimulus				
http://purl.obolibrary.org/obo/GO_0045863	obsolete negative regulation of pteridine metabolic process				
http://purl.obolibrary.org/obo/GO_0045864	obsolete positive regulation of pteridine metabolic process				
http://purl.obolibrary.org/obo/GO_0045914	obsolete negative regulation of catecholamine metabolic process				
http://purl.obolibrary.org/obo/GO_0045915	obsolete positive regulation of catecholamine metabolic process				
http://purl.obolibrary.org/obo/GO_0046950	obsolete cellular ketone body metabolic process				
http://purl.obolibrary.org/obo/GO_0050666	obsolete regulation of homocysteine metabolic process				
http://purl.obolibrary.org/obo/GO_0050668	obsolete positive regulation of homocysteine metabolic process				
http://purl.obolibrary.org/obo/GO_0050669	obsolete negative regulation of homocysteine metabolic process				
http://purl.obolibrary.org/obo/GO_0050963	obsolete detection of electrical stimulus involved in sensory perception				
http://purl.obolibrary.org/obo/GO_0050964	obsolete detection of electrical stimulus involved in electroception				
http://purl.obolibrary.org/obo/GO_0050967	obsolete detection of electrical stimulus involved in sensory perception of pain				
http://purl.obolibrary.org/obo/GO_0051193	obsolete regulation of cofactor metabolic process				
http://purl.obolibrary.org/obo/GO_0051194	obsolete positive regulation of cofactor metabolic process				
http://purl.obolibrary.org/obo/GO_0051195	obsolete negative regulation of cofactor metabolic process				
http://purl.obolibrary.org/obo/GO_0051197	obsolete positive regulation of coenzyme metabolic process				
http://purl.obolibrary.org/obo/GO_0051198	obsolete negative regulation of coenzyme metabolic process				
http://purl.obolibrary.org/obo/GO_0051270	obsolete regulation of cellular component movement				
http://purl.obolibrary.org/obo/GO_0051356	obsolete visual perception involved in equilibrioception				
http://purl.obolibrary.org/obo/GO_1903508	obsolete positive regulation of nucleic acid-templated transcription				
http://purl.obolibrary.org/obo/GO_1903759	obsolete signal transduction involved in regulation of aerobic respiration				
http://purl.obolibrary.org/obo/GO_1904081	obsolete positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation				
http://purl.obolibrary.org/obo/GO_1904220	obsolete regulation of serine C-palmitoyltransferase activity				
http://purl.obolibrary.org/obo/GO_1904221	obsolete negative regulation of serine C-palmitoyltransferase activity				
http://purl.obolibrary.org/obo/GO_1904226	obsolete regulation of glycogen synthase activity, transferring glucose-1-phosphate				
http://purl.obolibrary.org/obo/GO_1904227	obsolete negative regulation of glycogen synthase activity, transferring glucose-1-phosphate				
http://purl.obolibrary.org/obo/GO_1904228	obsolete positive regulation of glycogen synthase activity, transferring glucose-1-phosphate				
http://purl.obolibrary.org/obo/GO_1904254	obsolete regulation of iron ion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_1904255	obsolete negative regulation of iron ion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_1904256	obsolete positive regulation of iron ion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_1904318	obsolete regulation of smooth muscle contraction involved in micturition				
http://purl.obolibrary.org/obo/GO_1904319	obsolete negative regulation of smooth muscle contraction involved in micturition				
http://purl.obolibrary.org/obo/GO_1904320	obsolete positive regulation of smooth muscle contraction involved in micturition				
http://purl.obolibrary.org/obo/GO_1904783	obsolete positive regulation of NMDA glutamate receptor activity				
http://purl.obolibrary.org/obo/GO_1905123	obsolete regulation of glucosylceramidase activity				
http://purl.obolibrary.org/obo/GO_1905124	obsolete negative regulation of glucosylceramidase activity				
http://purl.obolibrary.org/obo/GO_1905125	obsolete positive regulation of glucosylceramidase activity				
http://purl.obolibrary.org/obo/GO_1905215	obsolete negative regulation of RNA binding				
http://purl.obolibrary.org/obo/HP_0005365	obsolete Severe B lymphocytopenia				
http://purl.obolibrary.org/obo/HP_0005407	obsolete Decreased proportion of CD4-positive helper T cells				
http://purl.obolibrary.org/obo/HP_0005435	obsolete Impaired T cell function				
http://purl.obolibrary.org/obo/HP_0005807	obsolete Absent distal finger phalanx				
http://purl.obolibrary.org/obo/HP_0006504	obsolete Anomaly of the limb diaphyses morphology				
http://purl.obolibrary.org/obo/HP_0006887	obsolete Intellectual disability, progressive				
http://purl.obolibrary.org/obo/HP_0007435	obsolete Diffuse palmoplantar keratoderma				
http://purl.obolibrary.org/obo/HP_0007543	obsolete Epidermal hyperkeratosis				
http://purl.obolibrary.org/obo/HP_0007680	obsolete Depigmented fundus				
http://purl.obolibrary.org/obo/HP_0007770	obsolete Hypoplasia of the retina				
http://purl.obolibrary.org/obo/HP_0007850	obsolete Retinal vascular proliferation				
http://purl.obolibrary.org/obo/HP_0008572	obsolete External ear malformation				
http://purl.obolibrary.org/obo/HP_0008715	obsolete Testicular dysgenesis				
http://purl.obolibrary.org/obo/HP_0008826	obsolete Dislocation of the femoral head				
http://purl.obolibrary.org/obo/HP_0009178	obsolete Symphalangism of middle phalanx of 5th finger				
http://purl.obolibrary.org/obo/HP_0009232	obsolete Symphalangism affecting the proximal phalanx of the 5th finger				
http://purl.obolibrary.org/obo/HP_0009308	obsolete Symphalangism of middle phalanx of 4th finger				
http://purl.obolibrary.org/obo/HP_0009314	obsolete Symphalangism affecting the proximal phalanx of the 4th finger				
http://purl.obolibrary.org/obo/HP_0009435	obsolete Symphalangism of middle phalanx of 3rd finger				
http://purl.obolibrary.org/obo/HP_0009455	obsolete Symphalangism affecting the proximal phalanx of the 3rd finger				
http://purl.obolibrary.org/obo/HP_0009574	obsolete Symphalangism of middle phalanx of 2nd finger				
http://purl.obolibrary.org/obo/HP_0009586	obsolete Symphalangism affecting the proximal phalanx of the 2nd finger				
http://purl.obolibrary.org/obo/HP_0009849	obsolete Symphalangism of middle phalanx of finger				
http://purl.obolibrary.org/obo/HP_0009857	obsolete Symphalangism affecting the proximal phalanges of the hand				
http://purl.obolibrary.org/obo/HP_0010064	obsolete Symphalangism affecting the phalanges of the hallux				
http://purl.obolibrary.org/obo/HP_0010082	obsolete Symphalangism affecting the distal phalanx of the hallux				
http://purl.obolibrary.org/obo/HP_0010191	obsolete Symphalangism affecting the distal phalanges of the toes				
http://purl.obolibrary.org/obo/HP_0010209	obsolete Symphalangism affecting the proximal phalanges of the toes				
http://purl.obolibrary.org/obo/HP_0010410	obsolete Symphalangism affecting the middle phalanx of the 2nd toe				
http://purl.obolibrary.org/obo/HP_0010692	obsolete 2-5 finger syndactyly				
http://purl.obolibrary.org/obo/HP_0011357	obsolete Abnormality of hair density				
http://purl.obolibrary.org/obo/HP_0012178	obsolete Reduced natural killer cell activity				
http://purl.obolibrary.org/obo/HP_0200065	obsolete Chorioretinal degeneration				
http://purl.obolibrary.org/obo/NCBITaxon_1	root				
http://purl.obolibrary.org/obo/UBERON_0005216	obsolete optic eminence surface ectoderm				
http://purl.obolibrary.org/obo/SO_0001260	sequence_collection				
http://purl.obolibrary.org/obo/HsapDv_0000000	life cycle stage				
http://purl.obolibrary.org/obo/HP_0040066	obsolete Abnormal morphology of bones of the lower limbs				
http://purl.obolibrary.org/obo/HP_0040077	obsolete Abnormal concentration of calcium in blood				
http://purl.obolibrary.org/obo/HP_0040215	obsolete Abnormal circulating insulin level				
http://purl.obolibrary.org/obo/HsapDv_0000082	newborn stage				
http://purl.obolibrary.org/obo/HsapDv_0000083	infant stage				
http://purl.obolibrary.org/obo/HsapDv_0000087	adult stage				
http://purl.obolibrary.org/obo/HsapDv_0000091	late adulthood stage				
http://purl.obolibrary.org/obo/HsapDv_0000092	middle aged stage				
http://purl.obolibrary.org/obo/NCIT_C20181	Conceptual Entity				
http://purl.obolibrary.org/obo/MONDO_0024145	obsolete Pierre Robin syndrome associated with collagen disease				
http://purl.obolibrary.org/obo/MONDO_0024147	obsolete Pierre Robin syndrome associated with a chromosomal anomaly				
http://purl.obolibrary.org/obo/MONDO_0024148	obsolete Pierre Robin syndrome associated with branchial archs anomalies				
http://purl.obolibrary.org/obo/MONDO_0024149	obsolete Pierre Robin syndrome associated with bone disease				
http://purl.obolibrary.org/obo/HP_5200275	obsolete Abnormal motivation				
http://purl.obolibrary.org/obo/MONDO_0100568	obsolete Mycobacterium tuberculosis, protection against				
http://purl.obolibrary.org/obo/SO_0000400	sequence_attribute				
http://purl.obolibrary.org/obo/MONDO_0004688	obsolete sideroblastic anemia				
http://purl.obolibrary.org/obo/MONDO_0020732	obsolete progeria				
http://purl.obolibrary.org/obo/MONDO_0020810	obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome				
http://purl.obolibrary.org/obo/MONDO_0020871	obsolete name syndrome				
http://purl.obolibrary.org/obo/MONDO_0022397	obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene				
http://purl.obolibrary.org/obo/MONDO_0022399	obsolete retinal ciliopathy due to mutation in the RPGR gene				
http://purl.obolibrary.org/obo/MONDO_0022400	obsolete retinal ciliopathy due to mutation in the RPGRIP gene				
http://purl.obolibrary.org/obo/MONDO_0022404	obsolete retinal ciliopathy due to mutation in Usher gene				
http://purl.obolibrary.org/obo/MONDO_0022405	obsolete retinal ciliopathy due to mutation in nephronophthisis gene				
http://purl.obolibrary.org/obo/MONDO_0022407	obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene				
http://purl.obolibrary.org/obo/MONDO_0000020	obsolete elliptocytosis				
http://purl.obolibrary.org/obo/MONDO_0004945	obsolete hypereosinophilic syndrome				
http://purl.obolibrary.org/obo/MONDO_0019244	obsolete glycogen storage disease				
http://purl.obolibrary.org/obo/MONDO_0025303	obsolete anaplasmosis				
http://purl.obolibrary.org/obo/MONDO_0044974	obsolete disease of supramolecular complex				
http://purl.obolibrary.org/obo/MONDO_0021307	obsolete MONDO:0021307				
http://purl.obolibrary.org/obo/MONDO_0021725	obsolete Abderhalden-Kaufmann-Lignac syndrome				
http://purl.obolibrary.org/obo/MONDO_0021849	obsolete alopecia macular degeneration growth retardation syndrome				
http://purl.obolibrary.org/obo/MONDO_0021909	obsolete aplasia cutis congenita recessive				
http://purl.obolibrary.org/obo/MONDO_0021910	obsolete aplasia cutis myopia				
http://purl.obolibrary.org/obo/MONDO_0021927	obsolete arthrogryposis epileptic seizures migrational brain disorder				
http://purl.obolibrary.org/obo/MONDO_0021937	obsolete Asrar Facharzt Haque syndrome				
http://purl.obolibrary.org/obo/MONDO_0021969	obsolete Banti syndrome				
http://purl.obolibrary.org/obo/MONDO_0021971	obsolete Baraitser Rodeck garner syndrome				
http://purl.obolibrary.org/obo/MONDO_0022018	obsolete Borrone di Rocco Crovato syndrome				
http://purl.obolibrary.org/obo/MONDO_0022109	obsolete catatrichy				
http://purl.obolibrary.org/obo/MONDO_0022263	obsolete congenital hepatic fibrosis				
http://purl.obolibrary.org/obo/MONDO_0022314	obsolete Hernandez Aguirre-Negrete syndrome				
http://purl.obolibrary.org/obo/MONDO_0022406	obsolete aksu von stockhausen syndrome				
http://purl.obolibrary.org/obo/MONDO_0022412	obsolete albinism immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0022413	obsolete Albright-like syndrome				
http://purl.obolibrary.org/obo/MONDO_0022414	obsolete allain-babin-demarquez syndrome				
http://purl.obolibrary.org/obo/MONDO_0022418	obsolete alopecia immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0022423	obsolete alpha-2 deficient collagen disease				
http://purl.obolibrary.org/obo/MONDO_0022425	obsolete alpha-thalassemia-abnormal morphogenesis				
http://purl.obolibrary.org/obo/MONDO_0022434	obsolete amelia cleft lip palate hydrocephalus iris coloboma				
http://purl.obolibrary.org/obo/MONDO_0022446	obsolete amyloidosis nodular localized cutaneous				
http://purl.obolibrary.org/obo/MONDO_0022448	obsolete amyoplasia mandibulofacial dysostosis				
http://purl.obolibrary.org/obo/MONDO_0022460	obsolete anophthalmia cleft lip palate hypothalamic disorder				
http://purl.obolibrary.org/obo/MONDO_0022463	obsolete anophthalmia megalocornea cardiopathy skeletal anomalies				
http://purl.obolibrary.org/obo/MONDO_0022464	obsolete anophthalmia microcephaly hypogonadism				
http://purl.obolibrary.org/obo/MONDO_0022469	obsolete aortic arches defect				
http://purl.obolibrary.org/obo/MONDO_0022482	obsolete apolipoprotein C 2i deficiency				
http://purl.obolibrary.org/obo/MONDO_0022495	obsolete arthritis short stature deafness				
http://purl.obolibrary.org/obo/MONDO_0022512	obsolete atrial septal defect coronary sinus				
http://purl.obolibrary.org/obo/MONDO_0022546	obsolete basal cell nevus anodontia abnormal bone mineralization				
http://purl.obolibrary.org/obo/MONDO_0022556	obsolete oculo-cerebral dysplasia				
http://purl.obolibrary.org/obo/MONDO_0022566	obsolete BEST1 retinopathy				
http://purl.obolibrary.org/obo/MONDO_0022605	obsolete brachymetapody anodontia hypotrichosis albinoidism				
http://purl.obolibrary.org/obo/MONDO_0022620	obsolete CD4 deficiency				
http://purl.obolibrary.org/obo/MONDO_0022651	obsolete cardiomyopathy dilated with conduction defect type 1				
http://purl.obolibrary.org/obo/MONDO_0022652	obsolete cardiomyopathy dilated with conduction defect type 2				
http://purl.obolibrary.org/obo/MONDO_0022676	obsolete cataract - glaucoma				
http://purl.obolibrary.org/obo/MONDO_0022725	obsolete chondrodysplasia lethal recessive				
http://purl.obolibrary.org/obo/MONDO_0022732	obsolete chorea minor				
http://purl.obolibrary.org/obo/MONDO_0022819	obsolete congenital arteriovenous shunt				
http://purl.obolibrary.org/obo/MONDO_0022850	obsolete congenital sucrose isomaltose malabsorption				
http://purl.obolibrary.org/obo/MONDO_0022857	obsolete continuous muscle fiber activity hereditary				
http://purl.obolibrary.org/obo/MONDO_0022858	obsolete continuous spike-wave during slow sleep syndrome				
http://purl.obolibrary.org/obo/MONDO_0022869	obsolete coronary arteries congenital malformation				
http://purl.obolibrary.org/obo/MONDO_0022913	obsolete cutler bass Romshe syndrome				
http://purl.obolibrary.org/obo/MONDO_0022916	obsolete cystic hygroma lethal cleft palate				
http://purl.obolibrary.org/obo/MONDO_0022926	obsolete daentl towsend Siegel syndrome				
http://purl.obolibrary.org/obo/MONDO_0022939	obsolete deafness hyperuricemia neurologic ataxia				
http://purl.obolibrary.org/obo/MONDO_0022940	obsolete deafness hyperuricemia neurologic ataxia				
http://purl.obolibrary.org/obo/MONDO_0022953	obsolete delta-1-pyrroline-5-carboxylate dehydrogenase deficiency				
http://purl.obolibrary.org/obo/MONDO_0022982	obsolete die Smulders Vles Fryns syndrome				
http://purl.obolibrary.org/obo/MONDO_0023000	obsolete dobrow syndrome				
http://purl.obolibrary.org/obo/MONDO_0023008	obsolete drachtman weinblatt sitarz syndrome				
http://purl.obolibrary.org/obo/MONDO_0023031	obsolete dysostosis acral with facial and genital abnormalities				
http://purl.obolibrary.org/obo/MONDO_0023038	obsolete eccentrochondrodysplasia				
http://purl.obolibrary.org/obo/MONDO_0023041	obsolete ectodermal dysplasia Berlin type				
http://purl.obolibrary.org/obo/MONDO_0023052	obsolete ectrodactyly polydactyly				
http://purl.obolibrary.org/obo/MONDO_0023065	obsolete encephalopathy recurrent of childhood				
http://purl.obolibrary.org/obo/MONDO_0023072	obsolete envenomization by Bothrops lanceolatus				
http://purl.obolibrary.org/obo/MONDO_0023097	obsolete exostoses anetodermia brachydactyly type E				
http://purl.obolibrary.org/obo/MONDO_0023129	obsolete Fara Chlupackova syndrome				
http://purl.obolibrary.org/obo/MONDO_0023140	obsolete fenton Wilkinson Toselano syndrome				
http://purl.obolibrary.org/obo/MONDO_0023141	obsolete antihypertensive drugs antenatal exposure syndrome				
http://purl.obolibrary.org/obo/MONDO_0023174	obsolete follicular lymphoreticuloma				
http://purl.obolibrary.org/obo/MONDO_0023191	obsolete Freire-Maia odontotrichomelic syndrome				
http://purl.obolibrary.org/obo/MONDO_0023194	obsolete frints de Smet Fabry Fryns syndrome				
http://purl.obolibrary.org/obo/MONDO_0023217	obsolete gastro-enteropancreatic neuroendocrine tumor				
http://purl.obolibrary.org/obo/MONDO_0023235	obsolete giant congenital nevus				
http://purl.obolibrary.org/obo/MONDO_0023243	obsolete glass-chapman-hockley syndrome				
http://purl.obolibrary.org/obo/MONDO_0023303	obsolete Hamanishi-Ueba-Tsuji syndrome				
http://purl.obolibrary.org/obo/MONDO_0023310	obsolete hemiplegic migraine				
http://purl.obolibrary.org/obo/MONDO_0023539	obsolete MONDO:0023539				
http://purl.obolibrary.org/obo/MONDO_0023616	obsolete familial leiomyomatosis				
http://purl.obolibrary.org/obo/MONDO_0023663	obsolete macrocephaly mesodermal hamartoma spectrum				
http://purl.obolibrary.org/obo/MONDO_0023820	obsolete Moebius axonal neuropathy hypogonadism				
http://purl.obolibrary.org/obo/MONDO_0024351	obsolete familial pityriasis rubra pilaris				
http://purl.obolibrary.org/obo/MONDO_0024471	obsolete non-inflammatory vasculopathy				
http://purl.obolibrary.org/obo/MONDO_0024486	obsolete familial chronic mucocutaneous candidiasis				
http://purl.obolibrary.org/obo/MONDO_0024345	obsolete pityriasis streptogenes				
http://purl.obolibrary.org/obo/MONDO_0024348	obsolete pityriasis capitis				
http://purl.obolibrary.org/obo/MONDO_0024385	obsolete arenavirus infectious disease				
http://purl.obolibrary.org/obo/MONDO_0024404	obsolete meningitis caused by anaerobic bacteria				
http://purl.obolibrary.org/obo/MONDO_0024460	obsolete Herpesviridae infections				
http://purl.obolibrary.org/obo/MONDO_0024544	obsolete Heimler syndrome 1				
http://purl.obolibrary.org/obo/GO_0140603	obsolete ATP hydrolysis activity				
http://purl.obolibrary.org/obo/MONDO_0100007	obsolete chronic inflammatory demyelinating polyneuropathy				
http://purl.obolibrary.org/obo/MONDO_0035354	obsolete IgG4-related systemic disease				
http://purl.obolibrary.org/obo/MONDO_0035363	obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome				
http://purl.obolibrary.org/obo/MONDO_0035369	obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome				
http://purl.obolibrary.org/obo/MONDO_0035398	obsolete hypomyelination of early myelinating structures				
http://purl.obolibrary.org/obo/MONDO_0100334	obsolete viral infectious disease or sequela				
http://purl.obolibrary.org/obo/MONDO_0100411	obsolete acute myeloid leukemia, NPM1 gene mutation				
http://purl.obolibrary.org/obo/GO_0000002	obsolete mitochondrial genome maintenance				
http://purl.obolibrary.org/obo/GO_0000003	obsolete reproduction				
http://purl.obolibrary.org/obo/GO_0000229	obsolete cytoplasmic chromosome				
http://purl.obolibrary.org/obo/GO_0000820	obsolete regulation of glutamine family amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_0000904	obsolete cell morphogenesis involved in differentiation				
http://purl.obolibrary.org/obo/GO_0000988	obsolete transcription factor activity, protein binding				
http://purl.obolibrary.org/obo/GO_0001505	obsolete regulation of neurotransmitter levels				
http://purl.obolibrary.org/obo/GO_0001977	obsolete renal system process involved in regulation of blood volume				
http://purl.obolibrary.org/obo/GO_0002284	obsolete myeloid dendritic cell differentiation involved in immune response				
http://purl.obolibrary.org/obo/GO_0002433	obsolete immune response-regulating cell surface receptor signaling pathway involved in phagocytosis				
http://purl.obolibrary.org/obo/GO_0003411	obsolete cell motility involved in camera-type eye morphogenesis				
http://purl.obolibrary.org/obo/GO_0003674	molecular_function				
http://purl.obolibrary.org/obo/GO_0003845	obsolete 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity				
http://purl.obolibrary.org/obo/GO_0003867	obsolete 4-aminobutyrate transaminase activity				
http://purl.obolibrary.org/obo/GO_0004871	obsolete signal transducer activity				
http://purl.obolibrary.org/obo/GO_0005753	obsolete mitochondrial proton-transporting ATP synthase complex				
http://purl.obolibrary.org/obo/GO_0006547	obsolete L-histidine metabolic process				
http://purl.obolibrary.org/obo/GO_0006949	obsolete syncytium formation				
http://purl.obolibrary.org/obo/GO_0008150	biological_process				
http://purl.obolibrary.org/obo/GO_0008514	obsolete organic anion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0009064	obsolete glutamine family amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_0010033	obsolete response to organic substance				
http://purl.obolibrary.org/obo/GO_0015103	obsolete inorganic anion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0018130	obsolete heterocycle biosynthetic process				
http://purl.obolibrary.org/obo/GO_0018271	obsolete biotin-protein ligase activity				
http://purl.obolibrary.org/obo/GO_0019438	obsolete aromatic compound biosynthetic process				
http://purl.obolibrary.org/obo/GO_0031323	obsolete regulation of cellular metabolic process				
http://purl.obolibrary.org/obo/GO_0031324	obsolete negative regulation of cellular metabolic process				
http://purl.obolibrary.org/obo/GO_0031325	obsolete positive regulation of cellular metabolic process				
http://purl.obolibrary.org/obo/GO_0031326	obsolete regulation of cellular biosynthetic process				
http://purl.obolibrary.org/obo/GO_0031327	obsolete negative regulation of cellular biosynthetic process				
http://purl.obolibrary.org/obo/GO_0031328	obsolete positive regulation of cellular biosynthetic process				
http://purl.obolibrary.org/obo/GO_0031329	obsolete regulation of cellular catabolic process				
http://purl.obolibrary.org/obo/GO_0031331	obsolete positive regulation of cellular catabolic process				
http://purl.obolibrary.org/obo/GO_0031668	obsolete cellular response to extracellular stimulus				
http://purl.obolibrary.org/obo/GO_0034248	obsolete regulation of amide metabolic process				
http://purl.obolibrary.org/obo/GO_0034249	obsolete negative regulation of amide metabolic process				
http://purl.obolibrary.org/obo/GO_0034250	obsolete positive regulation of amide metabolic process				
http://purl.obolibrary.org/obo/GO_0042135	obsolete neurotransmitter catabolic process				
http://purl.obolibrary.org/obo/GO_0043603	obsolete amide metabolic process				
http://purl.obolibrary.org/obo/GO_0043604	obsolete amide biosynthetic process				
http://purl.obolibrary.org/obo/GO_0043900	obsolete regulation of multi-organism process				
http://purl.obolibrary.org/obo/GO_0043902	obsolete positive regulation of multi-organism process				
http://purl.obolibrary.org/obo/GO_0044237	obsolete cellular metabolic process				
http://purl.obolibrary.org/obo/GO_0044271	obsolete cellular nitrogen compound biosynthetic process				
http://purl.obolibrary.org/obo/GO_0044420	obsolete extracellular matrix component				
http://purl.obolibrary.org/obo/GO_0044422	obsolete organelle part				
http://purl.obolibrary.org/obo/GO_0044424	obsolete intracellular part				
http://purl.obolibrary.org/obo/GO_0044425	obsolete membrane part				
http://purl.obolibrary.org/obo/GO_0044427	obsolete chromosomal part				
http://purl.obolibrary.org/obo/GO_0044428	obsolete nuclear part				
http://purl.obolibrary.org/obo/GO_0044429	obsolete mitochondrial part				
http://purl.obolibrary.org/obo/GO_0044431	obsolete Golgi apparatus part				
http://purl.obolibrary.org/obo/GO_0044433	obsolete cytoplasmic vesicle part				
http://purl.obolibrary.org/obo/GO_0044437	obsolete vacuolar part				
http://purl.obolibrary.org/obo/GO_0044441	obsolete ciliary part				
http://purl.obolibrary.org/obo/GO_0044444	obsolete cytoplasmic part				
http://purl.obolibrary.org/obo/GO_0044445	obsolete cytosolic part				
http://purl.obolibrary.org/obo/GO_0044448	obsolete cell cortex part				
http://purl.obolibrary.org/obo/GO_0044452	obsolete nucleolar part				
http://purl.obolibrary.org/obo/GO_0044454	obsolete nuclear chromosome part				
http://purl.obolibrary.org/obo/GO_0044459	obsolete plasma membrane part				
http://purl.obolibrary.org/obo/GO_0044463	obsolete cell projection part				
http://purl.obolibrary.org/obo/GO_0045026	obsolete plasma membrane fusion				
http://purl.obolibrary.org/obo/GO_0046483	obsolete heterocycle metabolic process				
http://purl.obolibrary.org/obo/GO_0046700	obsolete heterocycle catabolic process				
http://purl.obolibrary.org/obo/GO_0051271	obsolete negative regulation of cellular component movement				
http://purl.obolibrary.org/obo/GO_0051272	obsolete positive regulation of cellular component movement				
http://purl.obolibrary.org/obo/GO_0090305	obsolete nucleic acid phosphodiester bond hydrolysis				
http://purl.obolibrary.org/obo/GO_0097159	obsolete organic cyclic compound binding				
http://purl.obolibrary.org/obo/GO_0097458	obsolete neuron part				
http://purl.obolibrary.org/obo/GO_0097659	obsolete nucleic acid-templated transcription				
http://purl.obolibrary.org/obo/GO_1901213	obsolete regulation of transcription from RNA polymerase II promoter involved in heart development				
http://purl.obolibrary.org/obo/GO_1901228	obsolete positive regulation of transcription from RNA polymerase II promoter involved in heart development				
http://purl.obolibrary.org/obo/GO_1901360	obsolete organic cyclic compound metabolic process				
http://purl.obolibrary.org/obo/GO_1901361	obsolete organic cyclic compound catabolic process				
http://purl.obolibrary.org/obo/GO_1901362	obsolete organic cyclic compound biosynthetic process				
http://purl.obolibrary.org/obo/GO_1901522	obsolete positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus				
http://purl.obolibrary.org/obo/GO_1901564	obsolete organonitrogen compound metabolic process				
http://purl.obolibrary.org/obo/GO_1901565	obsolete organonitrogen compound catabolic process				
http://purl.obolibrary.org/obo/GO_1901566	obsolete organonitrogen compound biosynthetic process				
http://purl.obolibrary.org/obo/GO_1903506	obsolete regulation of nucleic acid-templated transcription				
http://purl.obolibrary.org/obo/GO_1903507	obsolete negative regulation of nucleic acid-templated transcription				
http://purl.obolibrary.org/obo/GO_1905114	obsolete cell surface receptor signaling pathway involved in cell-cell signaling				
http://purl.obolibrary.org/obo/GO_0019362	obsolete pyridine nucleotide metabolic process				
http://purl.obolibrary.org/obo/GO_0030283	obsolete testosterone dehydrogenase [NAD(P)+] activity				
http://purl.obolibrary.org/obo/GO_0031300	obsolete intrinsic component of organelle membrane				
http://purl.obolibrary.org/obo/GO_0031304	obsolete intrinsic component of mitochondrial inner membrane				
http://purl.obolibrary.org/obo/GO_0031944	obsolete negative regulation of glucocorticoid metabolic process				
http://purl.obolibrary.org/obo/GO_0031945	obsolete positive regulation of glucocorticoid metabolic process				
http://purl.obolibrary.org/obo/GO_0031975	obsolete envelope				
http://purl.obolibrary.org/obo/GO_0032104	obsolete regulation of response to extracellular stimulus				
http://purl.obolibrary.org/obo/GO_0032105	obsolete negative regulation of response to extracellular stimulus				
http://purl.obolibrary.org/obo/GO_0032106	obsolete positive regulation of response to extracellular stimulus				
http://purl.obolibrary.org/obo/GO_0032113	obsolete regulation of carbohydrate phosphatase activity				
http://purl.obolibrary.org/obo/GO_0032114	obsolete regulation of glucose-6-phosphatase activity				
http://purl.obolibrary.org/obo/GO_0032409	obsolete regulation of transporter activity				
http://purl.obolibrary.org/obo/GO_0032504	obsolete multicellular organism reproduction				
http://purl.obolibrary.org/obo/GO_0032592	obsolete integral component of mitochondrial membrane				
http://purl.obolibrary.org/obo/GO_0032768	obsolete regulation of monooxygenase activity				
http://purl.obolibrary.org/obo/GO_0032990	obsolete cell part morphogenesis				
http://purl.obolibrary.org/obo/GO_0033006	obsolete regulation of mast cell activation involved in immune response				
http://purl.obolibrary.org/obo/GO_0033267	obsolete axon part				
http://purl.obolibrary.org/obo/GO_0033341	obsolete regulation of collagen binding				
http://purl.obolibrary.org/obo/GO_0033342	obsolete negative regulation of collagen binding				
http://purl.obolibrary.org/obo/GO_0033343	obsolete positive regulation of collagen binding				
http://purl.obolibrary.org/obo/GO_0033576	obsolete protein glycosylation in cytosol				
http://purl.obolibrary.org/obo/GO_0033578	obsolete protein glycosylation in Golgi				
http://purl.obolibrary.org/obo/GO_0034255	obsolete regulation of urea metabolic process				
http://purl.obolibrary.org/obo/GO_0035637	obsolete multicellular organismal signaling				
http://purl.obolibrary.org/obo/GO_0042165	obsolete neurotransmitter binding				
http://purl.obolibrary.org/obo/GO_0043433	obsolete negative regulation of DNA-binding transcription factor activity				
http://purl.obolibrary.org/obo/GO_0044275	obsolete cellular carbohydrate catabolic process				
http://purl.obolibrary.org/obo/GO_0044438	obsolete microbody part				
http://purl.obolibrary.org/obo/GO_0045935	obsolete positive regulation of nucleobase-containing compound metabolic process				
http://purl.obolibrary.org/obo/GO_0051173	obsolete positive regulation of nitrogen compound metabolic process				
http://purl.obolibrary.org/obo/GO_0051175	obsolete negative regulation of sulfur metabolic process				
http://purl.obolibrary.org/obo/GO_0051347	obsolete positive regulation of transferase activity				
http://purl.obolibrary.org/obo/GO_0051348	obsolete negative regulation of transferase activity				
http://purl.obolibrary.org/obo/GO_0060850	obsolete regulation of transcription involved in cell fate commitment				
http://purl.obolibrary.org/obo/GO_0070085	obsolete glycosylation				
http://purl.obolibrary.org/obo/GO_0070643	obsolete vitamin D 25-hydroxylase activity				
http://purl.obolibrary.org/obo/GO_0071310	obsolete cellular response to organic substance				
http://purl.obolibrary.org/obo/GO_0098573	obsolete intrinsic component of mitochondrial membrane				
http://purl.obolibrary.org/obo/GO_1901019	obsolete regulation of calcium ion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_1901021	obsolete positive regulation of calcium ion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_1903510	obsolete mucopolysaccharide metabolic process				
http://purl.obolibrary.org/obo/GO_2000273	obsolete positive regulation of signaling receptor activity				
http://purl.obolibrary.org/obo/GO_2001257	obsolete regulation of cation channel activity				
http://purl.obolibrary.org/obo/GO_2001258	obsolete negative regulation of cation channel activity				
http://purl.obolibrary.org/obo/GO_0035227	obsolete regulation of glutamate-cysteine ligase activity				
http://purl.obolibrary.org/obo/GO_0035228	obsolete negative regulation of glutamate-cysteine ligase activity				
http://purl.obolibrary.org/obo/GO_0035229	obsolete positive regulation of glutamate-cysteine ligase activity				
http://purl.obolibrary.org/obo/GO_0035636	obsolete multi-organism signaling				
http://purl.obolibrary.org/obo/GO_0035947	obsolete regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0035948	obsolete positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0035949	obsolete positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0036385	obsolete nucleoid DNA packaging				
http://purl.obolibrary.org/obo/GO_0042068	obsolete regulation of pteridine metabolic process				
http://purl.obolibrary.org/obo/GO_0044147	obsolete negative regulation of formation of structure involved in a symbiotic process				
http://purl.obolibrary.org/obo/GO_0044149	obsolete positive regulation of formation of structure involved in a symbiotic process				
http://purl.obolibrary.org/obo/GO_0045250	obsolete cytosolic pyruvate dehydrogenase complex				
http://purl.obolibrary.org/obo/GO_0045260	obsolete plasma membrane proton-transporting ATP synthase complex				
http://purl.obolibrary.org/obo/GO_0045272	obsolete plasma membrane respiratory chain complex I				
http://purl.obolibrary.org/obo/GO_0045276	obsolete plasma membrane respiratory chain complex III				
http://purl.obolibrary.org/obo/GO_0046323	obsolete D-glucose import				
http://purl.obolibrary.org/obo/GO_0048875	obsolete chemical homeostasis within a tissue				
http://purl.obolibrary.org/obo/GO_0051090	obsolete regulation of DNA-binding transcription factor activity				
http://purl.obolibrary.org/obo/GO_0051340	obsolete regulation of ligase activity				
http://purl.obolibrary.org/obo/GO_0051352	obsolete negative regulation of ligase activity				
http://purl.obolibrary.org/obo/GO_0051704	obsolete multi-organism process				
http://purl.obolibrary.org/obo/GO_0055076	obsolete transition metal ion homeostasis				
http://purl.obolibrary.org/obo/GO_0060548	obsolete negative regulation of cell death				
http://purl.obolibrary.org/obo/GO_0070470	obsolete plasma membrane respirasome				
http://purl.obolibrary.org/obo/GO_0071407	obsolete cellular response to organic cyclic compound				
http://purl.obolibrary.org/obo/GO_0071417	obsolete cellular response to organonitrogen compound				
http://purl.obolibrary.org/obo/GO_0072364	obsolete regulation of cellular ketone metabolic process by regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0072366	obsolete regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0072367	obsolete regulation of lipid transport by regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0072369	obsolete regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0097755	obsolete positive regulation of blood vessel diameter				
http://purl.obolibrary.org/obo/GO_0097756	obsolete negative regulation of blood vessel diameter				
http://purl.obolibrary.org/obo/GO_0098661	obsolete inorganic anion transmembrane transport				
http://purl.obolibrary.org/obo/GO_0098662	obsolete inorganic cation transmembrane transport				
http://purl.obolibrary.org/obo/GO_0098679	obsolete regulation of carbohydrate catabolic process by regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1900402	obsolete regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_2000469	obsolete negative regulation of peroxidase activity				
http://purl.obolibrary.org/obo/GO_2000531	obsolete regulation of fatty acid biosynthetic process by regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_2001021	obsolete negative regulation of response to DNA damage stimulus				
http://purl.obolibrary.org/obo/GO_2001022	obsolete positive regulation of response to DNA damage stimulus				
http://purl.obolibrary.org/obo/GO_0086019	obsolete cell-cell signaling involved in cardiac conduction				
http://purl.obolibrary.org/obo/GO_0090283	obsolete regulation of protein glycosylation in Golgi				
http://purl.obolibrary.org/obo/GO_0090284	obsolete positive regulation of protein glycosylation in Golgi				
http://purl.obolibrary.org/obo/GO_0090285	obsolete negative regulation of protein glycosylation in Golgi				
http://purl.obolibrary.org/obo/GO_0090357	obsolete regulation of L-tryptophan metabolic process				
http://purl.obolibrary.org/obo/GO_0090358	obsolete positive regulation of L-tryptophan metabolic process				
http://purl.obolibrary.org/obo/GO_0090368	obsolete regulation of ornithine metabolic process				
http://purl.obolibrary.org/obo/GO_0098660	obsolete inorganic ion transmembrane transport				
http://purl.obolibrary.org/obo/GO_0098936	obsolete intrinsic component of postsynaptic membrane				
http://purl.obolibrary.org/obo/GO_0098962	obsolete regulation of postsynaptic neurotransmitter receptor activity				
http://purl.obolibrary.org/obo/GO_0099055	obsolete integral component of postsynaptic membrane				
http://purl.obolibrary.org/obo/GO_0099529	obsolete neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential				
http://purl.obolibrary.org/obo/GO_0100002	obsolete negative regulation of protein kinase activity by protein phosphorylation				
http://purl.obolibrary.org/obo/GO_0100017	obsolete negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100018	obsolete regulation of glucose import by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100020	obsolete regulation of transport by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100021	obsolete regulation of iron ion transport by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100023	obsolete regulation of meiotic nuclear division by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100024	obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100025	obsolete negative regulation of cellular amino acid biosynthetic process by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100026	obsolete positive regulation of DNA repair by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100032	obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100036	obsolete positive regulation of purine nucleotide biosynthetic process by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100051	obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0100070	obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1900130	obsolete regulation of lipid binding				
http://purl.obolibrary.org/obo/GO_1900132	obsolete positive regulation of lipid binding				
http://purl.obolibrary.org/obo/GO_1900157	obsolete regulation of bone mineralization involved in bone maturation				
http://purl.obolibrary.org/obo/GO_1900387	obsolete negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1900389	obsolete regulation of glucose import by regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1900392	obsolete regulation of transport by negative regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1900403	obsolete negative regulation of cellular amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1900404	obsolete positive regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1900413	obsolete positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1900418	obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_1901227	obsolete negative regulation of transcription from RNA polymerase II promoter involved in heart development				
http://purl.obolibrary.org/obo/GO_1902571	obsolete regulation of serine-type peptidase activity				
http://purl.obolibrary.org/obo/GO_1902573	obsolete positive regulation of serine-type peptidase activity				
http://purl.obolibrary.org/obo/GO_1905038	obsolete regulation of membrane lipid metabolic process				
http://purl.obolibrary.org/obo/GO_1901402	obsolete negative regulation of tetrapyrrole metabolic process				
http://purl.obolibrary.org/obo/GO_1901403	obsolete positive regulation of tetrapyrrole metabolic process				
http://purl.obolibrary.org/obo/GO_1901999	obsolete homogentisate metabolic process				
http://purl.obolibrary.org/obo/GO_1902064	obsolete regulation of transcription from RNA polymerase II promoter involved in spermatogenesis				
http://purl.obolibrary.org/obo/GO_1902113	obsolete nucleotide phosphorylation involved in DNA repair				
http://purl.obolibrary.org/obo/GO_1903048	obsolete regulation of acetylcholine-gated cation channel activity				
http://purl.obolibrary.org/obo/GO_1903049	obsolete negative regulation of acetylcholine-gated cation channel activity				
http://purl.obolibrary.org/obo/GO_1903282	obsolete regulation of glutathione peroxidase activity				
http://purl.obolibrary.org/obo/GO_1903283	obsolete negative regulation of glutathione peroxidase activity				
http://purl.obolibrary.org/obo/GO_1903284	obsolete positive regulation of glutathione peroxidase activity				
http://purl.obolibrary.org/obo/GO_1903303	obsolete negative regulation of pyruvate kinase activity				
http://purl.obolibrary.org/obo/GO_1903304	obsolete positive regulation of pyruvate kinase activity				
http://purl.obolibrary.org/obo/GO_1903649	obsolete regulation of cytoplasmic transport				
http://purl.obolibrary.org/obo/GO_1903650	obsolete negative regulation of cytoplasmic transport				
http://purl.obolibrary.org/obo/GO_1903651	obsolete positive regulation of cytoplasmic transport				
http://purl.obolibrary.org/obo/GO_1903795	obsolete regulation of inorganic anion transmembrane transport				
http://purl.obolibrary.org/obo/GO_1903796	obsolete negative regulation of inorganic anion transmembrane transport				
http://purl.obolibrary.org/obo/GO_1903797	obsolete positive regulation of inorganic anion transmembrane transport				
http://purl.obolibrary.org/obo/GO_1905214	obsolete regulation of RNA binding				
http://purl.obolibrary.org/obo/GO_2000214	obsolete regulation of L-proline metabolic process				
http://purl.obolibrary.org/obo/GO_2000215	obsolete negative regulation of L-proline metabolic process				
http://purl.obolibrary.org/obo/GO_2000468	obsolete regulation of peroxidase activity				
http://purl.obolibrary.org/obo/GO_2000470	obsolete positive regulation of peroxidase activity				
http://purl.obolibrary.org/obo/GO_1905636	obsolete positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding				
http://purl.obolibrary.org/obo/GO_1905787	obsolete regulation of detection of mechanical stimulus involved in sensory perception of touch				
http://purl.obolibrary.org/obo/GO_1990731	obsolete UV-damage excision repair, DNA incision				
http://purl.obolibrary.org/obo/GO_2000216	obsolete positive regulation of L-proline metabolic process				
http://purl.obolibrary.org/obo/GO_2000825	obsolete positive regulation of androgen receptor activity				
http://purl.obolibrary.org/obo/GO_2001273	obsolete regulation of glucose import in response to insulin stimulus				
http://purl.obolibrary.org/obo/GO_2001274	obsolete negative regulation of glucose import in response to insulin stimulus				
http://purl.obolibrary.org/obo/GO_2001275	obsolete positive regulation of glucose import in response to insulin stimulus				
http://purl.obolibrary.org/obo/ENVO_00000131	obsolete glacial feature				
http://purl.obolibrary.org/obo/ENVO_01000818	obsolete cryosphere				
http://purl.obolibrary.org/obo/FOODON_03400004	obsolete: product type, other				
http://purl.obolibrary.org/obo/FOODON_03411047	grain or seed-producing plant				
http://purl.obolibrary.org/obo/FOODON_03411161	obsolete: cattle				
http://purl.obolibrary.org/obo/FOODON_03411215	obsolete: algae, bacteria or fungus				
http://purl.obolibrary.org/obo/FOODON_03411335	obsolete: crab				
http://purl.obolibrary.org/obo/FOODON_03411347	obsolete: plant				
http://purl.obolibrary.org/obo/FOODON_03420155	obsolete: seed (anatomical part)				
http://purl.obolibrary.org/obo/FOODON_03420178	seed part				
http://purl.obolibrary.org/obo/FOODON_03460180	obsolete: food added				
http://purl.obolibrary.org/obo/FOODON_00001785	obsolete: crab food product				
http://purl.obolibrary.org/obo/MONDO_0022201	obsolete has treatment by surgery				
http://purl.obolibrary.org/obo/MONDO_0024252	obsolete global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome				
http://purl.obolibrary.org/obo/GO_0062149	obsolete detection of stimulus involved in sensory perception of pain				
http://purl.obolibrary.org/obo/MONDO_0030016	obsolete MONDO:0030016				
http://purl.obolibrary.org/obo/MONDO_0030032	obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb				
http://purl.obolibrary.org/obo/MONDO_0024987	obsolete genetic urogenital tract malformation				
http://purl.obolibrary.org/obo/MONDO_0026141	obsolete genetic urticaria				
http://purl.obolibrary.org/obo/MONDO_0026150	obsolete genetic erythrokeratoderma				
http://purl.obolibrary.org/obo/MONDO_0026151	obsolete genetic acrokeratoderma				
http://purl.obolibrary.org/obo/MONDO_0026152	obsolete genetic porokeratosis				
http://purl.obolibrary.org/obo/MONDO_0026157	obsolete genetic pigmentation anomaly of the skin				
http://purl.obolibrary.org/obo/MONDO_0026160	obsolete genetic dermis disorder				
http://purl.obolibrary.org/obo/MONDO_0026166	obsolete genetic immune deficiency with skin involvement				
http://purl.obolibrary.org/obo/MONDO_0026167	obsolete genetic neuromuscular disease				
http://purl.obolibrary.org/obo/MONDO_0026170	obsolete genetic central nervous system malformation				
http://purl.obolibrary.org/obo/MONDO_0026173	obsolete rare genetic medullar disease				
http://purl.obolibrary.org/obo/MONDO_0026180	obsolete genetic congenital limb malformation				
http://purl.obolibrary.org/obo/MONDO_0026181	obsolete genetic renal or urinary tract malformation				
http://purl.obolibrary.org/obo/MONDO_0026182	obsolete genetic cranial malformation				
http://purl.obolibrary.org/obo/MONDO_0026183	obsolete genetic digestive tract malformation				
http://purl.obolibrary.org/obo/MONDO_0026184	obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen				
http://purl.obolibrary.org/obo/MONDO_0026185	obsolete genetic respiratory or mediastinal malformation				
http://purl.obolibrary.org/obo/MONDO_0026186	obsolete genetic developmental defect of the eye				
http://purl.obolibrary.org/obo/MONDO_0026187	obsolete genetic malformation syndrome with short stature				
http://purl.obolibrary.org/obo/MONDO_0026188	obsolete genetic overgrowth/obesity syndrome				
http://purl.obolibrary.org/obo/MONDO_0026189	obsolete genetic branchial arch or oral-acral syndrome				
http://purl.obolibrary.org/obo/MONDO_0026190	obsolete genetic malformation syndrome with odontal and/or periodontal component				
http://purl.obolibrary.org/obo/MONDO_0026192	obsolete genetic glomerular disease				
http://purl.obolibrary.org/obo/MONDO_0026193	obsolete genetic thrombotic microangiopathy				
http://purl.obolibrary.org/obo/MONDO_0026203	obsolete genetic respiratory malformation				
http://purl.obolibrary.org/obo/MONDO_0026209	obsolete genetic polyendocrinopathy				
http://purl.obolibrary.org/obo/MONDO_0026419	obsolete isolated corpus callosum agenesis				
http://purl.obolibrary.org/obo/MONDO_0026989	obsolete syndrome associated with hypertrophic cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0027929	obsolete genetic polycythemia				
http://purl.obolibrary.org/obo/MONDO_0028569	obsolete genetic interstitial lung disease				
http://purl.obolibrary.org/obo/MONDO_0028795	obsolete rare genetic systemic or rheumatologic disease				
http://purl.obolibrary.org/obo/MONDO_0028868	obsolete genetic frontotemporal degeneration with dementia				
http://purl.obolibrary.org/obo/MONDO_0029014	obsolete rare systemic or rheumatological disease of childhood				
http://purl.obolibrary.org/obo/MONDO_0029102	obsolete autosomal ichthyosis syndrome with other associated signs				
http://purl.obolibrary.org/obo/MONDO_0029810	obsolete laminopathy with striated muscle involvement				
http://purl.obolibrary.org/obo/MONDO_0029811	obsolete laminopathy with peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0029812	obsolete laminopathy with lipodystrophy				
http://purl.obolibrary.org/obo/MONDO_0029813	obsolete laminopathy with premature aging				
http://purl.obolibrary.org/obo/MONDO_0030052	obsolete disease with punctate palmoplantar keratoderma as a major feature				
http://purl.obolibrary.org/obo/MONDO_0030407	obsolete rare disease with Cushing syndrome as a major feature				
http://purl.obolibrary.org/obo/MONDO_0030767	obsolete genetic tumor of hematopoietic and lymphoid tissues				
http://purl.obolibrary.org/obo/MONDO_0031004	obsolete genetic disorder of sex development of gynecological interest				
http://purl.obolibrary.org/obo/MONDO_0031016	obsolete genetic disorder of sex development				
http://purl.obolibrary.org/obo/MONDO_0031689	obsolete genetic progeroid syndrome				
http://purl.obolibrary.org/obo/MONDO_0031697	obsolete genetic intractable diarrhea of infancy				
http://purl.obolibrary.org/obo/MONDO_0031698	obsolete genetic intestinal disease due to fat malabsorption				
http://purl.obolibrary.org/obo/MONDO_0031799	obsolete rare bone disease related to a common gene or pathway defect				
http://purl.obolibrary.org/obo/MONDO_0031949	obsolete genetic neurovascular malformation				
http://purl.obolibrary.org/obo/MONDO_0031952	obsolete genetic syndromic esophageal malformation				
http://purl.obolibrary.org/obo/MONDO_0032221	obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism				
http://purl.obolibrary.org/obo/MONDO_0033056	obsolete genetic facial cleft				
http://purl.obolibrary.org/obo/MONDO_0033329	obsolete genetic precocious puberty				
http://purl.obolibrary.org/obo/MONDO_0033331	obsolete genetic precocious puberty in female				
http://purl.obolibrary.org/obo/MONDO_0033334	obsolete genetic nose and cavum anomaly				
http://purl.obolibrary.org/obo/MONDO_0033335	obsolete genetic larynx anomaly				
http://purl.obolibrary.org/obo/MONDO_0033336	obsolete genetic tracheal anomaly				
http://purl.obolibrary.org/obo/MONDO_0033900	obsolete rare capillary malformation with associated anomalies				
http://purl.obolibrary.org/obo/MONDO_0033927	obsolete genetic complex vascular malformation with associated anomalies				
http://purl.obolibrary.org/obo/MONDO_0034039	obsolete genetic hemoglobinopathy				
http://purl.obolibrary.org/obo/MONDO_0034443	obsolete genetic non-acquired premature ovarian failure				
http://purl.obolibrary.org/obo/MONDO_0034641	obsolete rare genetic hyperkinetic movement disorder				
http://purl.obolibrary.org/obo/MONDO_0034661	obsolete syndromic biliary atresia				
http://purl.obolibrary.org/obo/MONDO_0034663	obsolete genetic inflammatory or rheumatoid-like osteoarthropathy				
http://purl.obolibrary.org/obo/MONDO_0034667	obsolete longitudinal limb defect				
http://purl.obolibrary.org/obo/MONDO_0034668	obsolete terminal transverse limb defect				
http://purl.obolibrary.org/obo/MONDO_0034669	obsolete non-syndromic preaxial polydactyly				
http://purl.obolibrary.org/obo/MONDO_0034670	obsolete non-syndromic postaxial polydactyly				
http://purl.obolibrary.org/obo/MONDO_0034671	obsolete non-syndromic complex polydactyly				
http://purl.obolibrary.org/obo/MONDO_0034673	obsolete ectrodactyly with and without other manifestations				
http://purl.obolibrary.org/obo/MONDO_0034678	obsolete mirror-image polydactyly				
http://purl.obolibrary.org/obo/MONDO_0034820	obsolete cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome				
http://purl.obolibrary.org/obo/MONDO_0034823	obsolete oral-facial-digital syndrome with short stature and brachymesophalangy				
http://purl.obolibrary.org/obo/MONDO_0034872	obsolete large granular lymphocyte leukemia				
http://purl.obolibrary.org/obo/MONDO_0034901	obsolete ATP13A2-related parkinsonism				
http://purl.obolibrary.org/obo/MONDO_0034923	obsolete inflammatory/autoimmune disorder involving the lacrimal system				
http://purl.obolibrary.org/obo/MONDO_0034926	obsolete rare disorder with entropion				
http://purl.obolibrary.org/obo/MONDO_0034931	obsolete rare conjunctivitis				
http://purl.obolibrary.org/obo/MONDO_0034937	obsolete syndromic ectopia lentis				
http://purl.obolibrary.org/obo/MONDO_0034943	obsolete isolated vitreoretinopathy				
http://purl.obolibrary.org/obo/MONDO_0034953	obsolete syndromic inherited retinal disorder				
http://purl.obolibrary.org/obo/MONDO_0034954	obsolete syndromic vitreoretinopathy				
http://purl.obolibrary.org/obo/MONDO_0034961	obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature				
http://purl.obolibrary.org/obo/MONDO_0034962	obsolete rare ophthalmic disorder with cortical involvement				
http://purl.obolibrary.org/obo/MONDO_0034965	obsolete rare ophthalmic disorder with cranial nerve involvement				
http://purl.obolibrary.org/obo/MONDO_0034968	obsolete rare ocular motility/alignment disorder				
http://purl.obolibrary.org/obo/MONDO_0035001	obsolete rare disorder of the visual organs				
http://purl.obolibrary.org/obo/MONDO_0035002	obsolete isolated inherited retinal disorder				
http://purl.obolibrary.org/obo/MONDO_0035013	obsolete genetic primary orthostatic disorder				
http://purl.obolibrary.org/obo/MONDO_0035014	obsolete primary orthostatic disorder				
http://purl.obolibrary.org/obo/MONDO_0035037	obsolete rare genetic disorder of the visual organs				
http://purl.obolibrary.org/obo/MONDO_0035075	obsolete secondary early-onset glaucoma of genetic origin				
http://purl.obolibrary.org/obo/MONDO_0035160	obsolete progressive myoclonic epilepsy with neuroserpin inclusion bodies				
http://purl.obolibrary.org/obo/MONDO_0035162	obsolete PIK3CA-related overgrowth syndrome				
http://purl.obolibrary.org/obo/MONDO_0035328	obsolete rare disorder due to poisoning				
http://purl.obolibrary.org/obo/MONDO_0035340	obsolete rare disorder with hirschsprung disease as a major feature				
http://purl.obolibrary.org/obo/MONDO_0035383	obsolete FOXG1 syndrome				
http://purl.obolibrary.org/obo/MONDO_0035426	obsolete rare disorder potentially indicated for transplant or complication after transplantation				
http://purl.obolibrary.org/obo/MONDO_0035433	obsolete calpain-3-related limb-girdle muscular dystrophy D4				
http://purl.obolibrary.org/obo/MONDO_0035451	obsolete left sided atrial isomerism				
http://purl.obolibrary.org/obo/MONDO_0035454	obsolete B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome				
http://purl.obolibrary.org/obo/MONDO_0035461	obsolete systemic disease with glomerulopathy as a major feature				
http://purl.obolibrary.org/obo/MONDO_0035466	obsolete nephrotic syndrome without extrarenal manifestations				
http://purl.obolibrary.org/obo/MONDO_0035469	obsolete primary lymphedema without systemic or visceral involvement				
http://purl.obolibrary.org/obo/MONDO_0035470	obsolete primary lymphedema with systemic or visceral involvement				
http://purl.obolibrary.org/obo/MONDO_0035471	obsolete disorder with multisystemic involvement and primary lymphedema				
http://purl.obolibrary.org/obo/MONDO_0035474	obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis				
http://purl.obolibrary.org/obo/MONDO_0035529	obsolete infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia				
http://purl.obolibrary.org/obo/MONDO_0035541	obsolete split cord malformation type II				
http://purl.obolibrary.org/obo/MONDO_0035542	obsolete split cord malformation				
http://purl.obolibrary.org/obo/MONDO_0035547	obsolete predisposition to severe viral infection due to IRF7 deficiency				
http://purl.obolibrary.org/obo/MONDO_0035554	obsolete complete atrioventricular septal defect without ventricular hypoplasia				
http://purl.obolibrary.org/obo/MONDO_0035555	obsolete partial atrioventricular septal defect with ventricular hypoplasia				
http://purl.obolibrary.org/obo/MONDO_0035556	obsolete partial atrioventricular septal defect without ventricular hypoplasia				
http://purl.obolibrary.org/obo/MONDO_0035557	obsolete intermediate atrioventricular septal defect				
http://purl.obolibrary.org/obo/MONDO_0035561	obsolete sporadic human prion disease				
http://purl.obolibrary.org/obo/MONDO_0035635	obsolete short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome				
http://purl.obolibrary.org/obo/MONDO_0035645	obsolete inherited gynecological cancer-predisposing syndrome				
http://purl.obolibrary.org/obo/MONDO_0035660	obsolete GNAO1-related developmental delay-seizures-movement disorder spectrum				
http://purl.obolibrary.org/obo/MONDO_0035661	obsolete TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome				
http://purl.obolibrary.org/obo/MONDO_0035682	obsolete fibrous dysplasia/McCune-Albright syndrome				
http://purl.obolibrary.org/obo/MONDO_0035683	obsolete adrenal hypoplasia congenita				
http://purl.obolibrary.org/obo/MONDO_0035684	obsolete epidermolysis bullosa simplex without extracutaneous involvement				
http://purl.obolibrary.org/obo/MONDO_0035685	obsolete epidermolysis bullosa simplex with extracutaneous involvement				
http://purl.obolibrary.org/obo/MONDO_0035689	obsolete syndrome of reduced sensitivity to thyroid hormone				
http://purl.obolibrary.org/obo/MONDO_0035713	obsolete FOXG1 syndrome due to intragenic alteration				
http://purl.obolibrary.org/obo/MONDO_0035774	obsolete NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance				
http://purl.obolibrary.org/obo/MONDO_0035780	obsolete non-syndromic anorectal malformation with perineal fistula				
http://purl.obolibrary.org/obo/MONDO_0035781	obsolete non-syndromic anorectal malformation with rectourethral fistula				
http://purl.obolibrary.org/obo/MONDO_0035784	obsolete non-syndromic anorectal malformation with rectovesical fistula				
http://purl.obolibrary.org/obo/MONDO_0035785	obsolete non-syndromic anorectal malformation with vestibular fistula				
http://purl.obolibrary.org/obo/MONDO_0035786	obsolete non-syndromic cloacal malformation				
http://purl.obolibrary.org/obo/MONDO_0035787	obsolete non-syndromic anorectal malformation without fistula				
http://purl.obolibrary.org/obo/MONDO_0035788	obsolete non-syndromic anorectal malformation with anal stenosis				
http://purl.obolibrary.org/obo/MONDO_0035789	obsolete non-syndromic anorectal malformation with pouch colon				
http://purl.obolibrary.org/obo/MONDO_0035790	obsolete non-syndromic anorectal malformation with rectal atresia				
http://purl.obolibrary.org/obo/MONDO_0035791	obsolete non-syndromic anorectal malformation with rectal stenosis				
http://purl.obolibrary.org/obo/MONDO_0035792	obsolete non-syndromic anorectal malformation with rectovaginal fistula				
http://purl.obolibrary.org/obo/MONDO_0035793	obsolete non-syndromic anorectal malformation with h-type fistula				
http://purl.obolibrary.org/obo/MONDO_0035862	obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome				
http://purl.obolibrary.org/obo/MONDO_0035863	obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability				
http://purl.obolibrary.org/obo/MONDO_0037716	obsolete rare genetic deafness				
http://purl.obolibrary.org/obo/MONDO_0037860	obsolete rare systemic or rheumatologic disease				
http://purl.obolibrary.org/obo/MONDO_0038261	obsolete genetic neurological channelopathy of the central nervous system				
http://purl.obolibrary.org/obo/MONDO_0038268	obsolete autoimmune neurological channelopathy				
http://purl.obolibrary.org/obo/MONDO_0800029	obsolete interstitial lung disease 2				
http://purl.obolibrary.org/obo/MONDO_8000030	obsolete morphological anomaly				
http://purl.obolibrary.org/obo/MONDO_8000031	obsolete subtype of a disorder				
http://purl.obolibrary.org/obo/MONDO_8000032	obsolete malformation syndrome				
http://purl.obolibrary.org/obo/MONDO_8000033	obsolete group of disorders				
http://purl.obolibrary.org/obo/MONDO_8000034	obsolete disorder				
http://purl.obolibrary.org/obo/MONDO_0957009	obsolete hereditary posterior fossa malformation				
http://purl.obolibrary.org/obo/GO_0009161	obsolete ribonucleoside monophosphate metabolic process				
http://purl.obolibrary.org/obo/GO_0009199	obsolete ribonucleoside triphosphate metabolic process				
http://purl.obolibrary.org/obo/GO_0009991	obsolete response to extracellular stimulus				
http://purl.obolibrary.org/obo/GO_0010243	obsolete response to organonitrogen compound				
http://purl.obolibrary.org/obo/GO_0010259	obsolete multicellular organism aging				
http://purl.obolibrary.org/obo/GO_0010672	obsolete regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle				
http://purl.obolibrary.org/obo/GO_0010673	obsolete positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle				
http://purl.obolibrary.org/obo/GO_0010674	obsolete negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle				
http://purl.obolibrary.org/obo/GO_0010675	obsolete regulation of cellular carbohydrate metabolic process				
http://purl.obolibrary.org/obo/GO_0010676	obsolete positive regulation of cellular carbohydrate metabolic process				
http://purl.obolibrary.org/obo/GO_0010677	obsolete negative regulation of cellular carbohydrate metabolic process				
http://purl.obolibrary.org/obo/GO_0010678	obsolete negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated				
http://purl.obolibrary.org/obo/GO_0010769	obsolete regulation of cell morphogenesis involved in differentiation				
http://purl.obolibrary.org/obo/GO_0010822	obsolete positive regulation of mitochondrion organization				
http://purl.obolibrary.org/obo/GO_0010823	obsolete negative regulation of mitochondrion organization				
http://purl.obolibrary.org/obo/GO_0010911	obsolete regulation of isomerase activity				
http://purl.obolibrary.org/obo/GO_0010912	obsolete positive regulation of isomerase activity				
http://purl.obolibrary.org/obo/GO_0010941	obsolete regulation of cell death				
http://purl.obolibrary.org/obo/GO_0010942	obsolete positive regulation of cell death				
http://purl.obolibrary.org/obo/GO_0014070	obsolete response to organic cyclic compound				
http://purl.obolibrary.org/obo/GO_0015318	obsolete inorganic molecular entity transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0016108	obsolete tetraterpenoid metabolic process				
http://purl.obolibrary.org/obo/GO_0022890	obsolete inorganic cation transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0030104	obsolete water homeostasis				
http://purl.obolibrary.org/obo/GO_0031224	obsolete intrinsic component of membrane				
http://purl.obolibrary.org/obo/GO_0031330	obsolete negative regulation of cellular catabolic process				
http://purl.obolibrary.org/obo/GO_0031335	obsolete regulation of sulfur amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_0031336	obsolete negative regulation of sulfur amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_0031337	obsolete positive regulation of sulfur amino acid metabolic process				
http://purl.obolibrary.org/obo/GO_0032412	obsolete regulation of monoatomic ion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0032769	obsolete negative regulation of monooxygenase activity				
http://purl.obolibrary.org/obo/GO_0033692	obsolete cellular polysaccharide biosynthetic process				
http://purl.obolibrary.org/obo/GO_0042133	obsolete neurotransmitter metabolic process				
http://purl.obolibrary.org/obo/GO_0043225	obsolete ATPase-coupled inorganic anion transmembrane transporter activity				
http://purl.obolibrary.org/obo/GO_0043901	obsolete negative regulation of multi-organism process				
http://purl.obolibrary.org/obo/GO_0044107	obsolete cellular alcohol metabolic process				
http://purl.obolibrary.org/obo/GO_0044446	obsolete intracellular organelle part				
http://purl.obolibrary.org/obo/GO_0045828	obsolete positive regulation of isoprenoid metabolic process				
http://purl.obolibrary.org/obo/GO_0046467	obsolete membrane lipid biosynthetic process				
http://purl.obolibrary.org/obo/GO_0051037	obsolete regulation of transcription involved in meiotic cell cycle				
http://purl.obolibrary.org/obo/GO_0051038	obsolete negative regulation of transcription involved in meiotic cell cycle				
http://purl.obolibrary.org/obo/GO_0051039	obsolete positive regulation of transcription involved in meiotic cell cycle				
http://purl.obolibrary.org/obo/GO_0051171	obsolete regulation of nitrogen compound metabolic process				
http://purl.obolibrary.org/obo/GO_0051172	obsolete negative regulation of nitrogen compound metabolic process				
http://purl.obolibrary.org/obo/GO_0051176	obsolete positive regulation of sulfur metabolic process				
http://purl.obolibrary.org/obo/GO_0051339	obsolete regulation of lyase activity				
http://purl.obolibrary.org/obo/GO_0060049	obsolete regulation of protein glycosylation				
http://purl.obolibrary.org/obo/GO_0060051	obsolete negative regulation of protein glycosylation				
http://purl.obolibrary.org/obo/GO_0070727	obsolete cellular macromolecule localization				
http://purl.obolibrary.org/obo/GO_0072507	obsolete divalent inorganic cation homeostasis				
http://purl.obolibrary.org/obo/GO_1901616	obsolete organic hydroxy compound catabolic process				
http://purl.obolibrary.org/obo/GO_1901657	obsolete glycosyl compound metabolic process				
http://purl.obolibrary.org/obo/GO_0060050	obsolete positive regulation of protein glycosylation				
http://purl.obolibrary.org/obo/GO_0060301	obsolete positive regulation of cytokine activity				
http://purl.obolibrary.org/obo/GO_0060610	obsolete mesenchymal cell differentiation involved in mammary gland development				
http://purl.obolibrary.org/obo/GO_0072361	obsolete regulation of glycolytic process by regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0072362	obsolete regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0072363	obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0072365	obsolete regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0072368	obsolete regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter				
http://purl.obolibrary.org/obo/GO_0099004	obsolete calmodulin dependent kinase signaling pathway				
http://purl.obolibrary.org/obo/GO_1900122	obsolete positive regulation of receptor binding				
http://purl.obolibrary.org/obo/GO_1902337	obsolete regulation of apoptotic process involved in morphogenesis				
http://purl.obolibrary.org/obo/GO_1904251	obsolete regulation of bile acid metabolic process				
http://purl.obolibrary.org/obo/GO_1904252	obsolete negative regulation of bile acid metabolic process				
http://purl.obolibrary.org/obo/GO_1904253	obsolete positive regulation of bile acid metabolic process				
http://purl.obolibrary.org/obo/SO_0000110	sequence_feature				
http://purl.obolibrary.org/obo/MONDO_0008539	obsolete distal arthrogryposis type 10				
http://purl.obolibrary.org/obo/MONDO_0006296	obsolete mast cell sarcoma				
http://purl.obolibrary.org/obo/GO_0150073	obsolete regulation of protein-glutamine gamma-glutamyltransferase activity				
http://purl.obolibrary.org/obo/GO_0150075	obsolete negative regulation of protein-glutamine gamma-glutamyltransferase activity				
http://purl.obolibrary.org/obo/MONDO_0044971	obsolete disease of macromolecular complex				
http://purl.obolibrary.org/obo/MONDO_0044977	obsolete disease of receptor activity				
http://purl.obolibrary.org/obo/MONDO_0044979	obsolete disease by cell type				
http://purl.obolibrary.org/obo/MONDO_0033211	obsolete diencephalic-mesencephalic junction dysplasia syndrome				
http://purl.obolibrary.org/obo/MONDO_0031178	obsolete monosomy 7 myelodysplasia and leukemia syndrome				
http://purl.obolibrary.org/obo/HP_0030050	obsolete Narcolepsy				
http://purl.obolibrary.org/obo/HP_0030333	obsolete Abnormal alpha-beta T cell morphology				
http://purl.obolibrary.org/obo/HsapDv_0000080	immature stage				
http://purl.obolibrary.org/obo/HsapDv_0000084	2-5 year-old child stage				
http://purl.obolibrary.org/obo/HsapDv_0000085	6-12 year-old child stage				
http://purl.obolibrary.org/obo/HsapDv_0000086	adolescent stage				
http://purl.obolibrary.org/obo/HsapDv_0000088	early adulthood stage				
http://purl.obolibrary.org/obo/HsapDv_0000090	25-44 year-old stage				
http://purl.obolibrary.org/obo/HsapDv_0000204	mature stage				
http://purl.obolibrary.org/obo/NBO_0000243	behavioral phenotype				
http://purl.obolibrary.org/obo/GO_0099240	obsolete intrinsic component of synaptic membrane				
http://purl.obolibrary.org/obo/GO_0099699	obsolete integral component of synaptic membrane				
http://purl.obolibrary.org/obo/MONDO_0007140	obsolete antiphospholipid syndrome				
http://purl.obolibrary.org/obo/MONDO_0021150	obsolete genetic characteristic				
http://purl.obolibrary.org/obo/MONDO_0021122	obsolete small cell neuroendocrine carcinoma				
http://purl.obolibrary.org/obo/MONDO_0021153	obsolete genetic and acquired				
http://purl.obolibrary.org/obo/MONDO_0021170	obsolete amyotonia congenita				
http://purl.obolibrary.org/obo/MONDO_0021188	obsolete hemangiopericytoma				
http://purl.obolibrary.org/obo/MONDO_0026768	obsolete warfarin sensitivity, X-linked				
http://purl.obolibrary.org/obo/MONDO_0033550	obsolete high density lipoprotein cholesterol level quantitative trait locus 7				
http://purl.obolibrary.org/obo/MONDO_0033552	obsolete blood group, lewis system				
http://purl.obolibrary.org/obo/MONDO_0033571	obsolete skeletal muscle glycogen content and metabolism quantitative trait locus				
http://purl.obolibrary.org/obo/MONDO_0800084	obsolete primary bone dysplasia with increased bone density				
http://purl.obolibrary.org/obo/MONDO_0800085	obsolete dysostosis with predominant craniofacial involvement				
http://purl.obolibrary.org/obo/MONDO_0800089	obsolete primary bone dysplasia with disorganized development of skeletal components				
http://purl.obolibrary.org/obo/MONDO_0800090	obsolete ectrodactyly with and without other manifestations				
http://purl.obolibrary.org/obo/MONDO_0800091	obsolete overgrowth or tall stature syndrome with skeletal involvement				
http://purl.obolibrary.org/obo/MONDO_0800093	obsolete dysostosis with brachydactyly without extraskeletal manifestations				
http://purl.obolibrary.org/obo/MONDO_0800094	obsolete dysostosis with brachydactyly with extraskeletal manifestations				
http://purl.obolibrary.org/obo/MONDO_0800087	obsolete type 11 collagen-related bone disorder				
http://purl.obolibrary.org/obo/MONDO_0800092	obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy				
http://purl.obolibrary.org/obo/MONDO_0800095	obsolete syndrome with synostosis or other joint formation defect				
http://purl.obolibrary.org/obo/MONDO_0800086	obsolete primary bone dysplasia with multiple joint dislocations				
http://purl.obolibrary.org/obo/MONDO_0036192	obsolete EN1-related dorsoventral syndrome				
http://purl.obolibrary.org/obo/ENVO_00002004	obsolete physical object of mesoscopic geological size				
http://purl.obolibrary.org/obo/ENVO_00003075	obsolete anthropogenic abiotic mesoscopic feature				
http://purl.obolibrary.org/obo/ENVO_01000010	obsolete abiotic mesoscopic physical object				
http://purl.obolibrary.org/obo/ENVO_01000044	obsolete marine pelagic feature				
http://purl.obolibrary.org/obo/MONDO_0006305	obsolete mixed cell uveal melanoma				
http://purl.obolibrary.org/obo/MONDO_0021247	obsolete renal pelvis neoplasm				
http://purl.obolibrary.org/obo/MONDO_0021252	obsolete lung hilum neoplasm				
http://purl.obolibrary.org/obo/MONDO_0021257	obsolete glomus jugulare neoplasm				
http://purl.obolibrary.org/obo/MONDO_0025155	obsolete hemorrhagic syndrome, bovine				
http://purl.obolibrary.org/obo/MONDO_0040964	obsolete superimposed infection				
http://purl.obolibrary.org/obo/MONDO_0041008	obsolete contact dermatitis caused by poison oak				
http://purl.obolibrary.org/obo/MONDO_0041440	obsolete functional visual loss				
http://purl.obolibrary.org/obo/MONDO_0042724	obsolete macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations				
http://purl.obolibrary.org/obo/MONDO_0042902	obsolete Say-Carpenter syndrome				
http://purl.obolibrary.org/obo/MONDO_0042908	obsolete Schaap-Taylor-Baraitser syndrome				
http://purl.obolibrary.org/obo/MONDO_0042915	obsolete Schmitt-Gillenwater-Kelly syndrome				
http://purl.obolibrary.org/obo/MONDO_0042924	obsolete Vagneur-Triolle-Ripert syndrome				
http://purl.obolibrary.org/obo/MONDO_0042975	obsolete pseudoachondroplastic dysplasia 2				
http://purl.obolibrary.org/obo/MONDO_0043079	obsolete acute articular rheumatism				
http://purl.obolibrary.org/obo/MONDO_0043181	obsolete Refsum disease with increased pipecolic acidemia				
http://purl.obolibrary.org/obo/MONDO_0044924	obsolete acute myeloid leukemia with mutated CEBPA				
http://purl.obolibrary.org/obo/MONDO_0044976	obsolete disease of catalytic activity				
http://purl.obolibrary.org/obo/MONDO_0054836	obsolete parkinsonism-dystonia, infantile, 2				
http://purl.obolibrary.org/obo/MONDO_0024646	obsolete refractory				
http://purl.obolibrary.org/obo/MONDO_0044969	obsolete disease of membrane bound organelle				
http://purl.obolibrary.org/obo/MONDO_0044980	obsolete disease of signal transduction				
http://purl.obolibrary.org/obo/MONDO_0045021	obsolete sucrose intolerance disease				
http://purl.obolibrary.org/obo/MONDO_0100036	obsolete variable-age onset epilepsy syndrome				
http://purl.obolibrary.org/obo/MONDO_0100088	obsolete late-onset familial alzheimer disease				
http://purl.obolibrary.org/obo/MONDO_0020784	obsolete short sleep, familial natural, 1				
http://purl.obolibrary.org/obo/MONDO_0020786	obsolete short sleep, familial natural, 2				
http://purl.obolibrary.org/obo/MONDO_0000071	obsolete myopathy, myofibrillar				
http://purl.obolibrary.org/obo/MONDO_0000002	obsolete 46,XX sex reversal				
http://purl.obolibrary.org/obo/MONDO_0000003	obsolete 17-hydroxysteroid dehydrogenase deficiency				
http://purl.obolibrary.org/obo/MONDO_0000008	obsolete bare lymphocyte syndrome				
http://purl.obolibrary.org/obo/MONDO_0000010	obsolete cerebrooculofacioskeletal syndrome				
http://purl.obolibrary.org/obo/MONDO_0000011	obsolete chondrodysplasia				
http://purl.obolibrary.org/obo/MONDO_0000013	obsolete choroidal dystrophy				
http://purl.obolibrary.org/obo/MONDO_0000017	obsolete deafness, autosomal recessive				
http://purl.obolibrary.org/obo/MONDO_0000018	obsolete myotonic dystrophy				
http://purl.obolibrary.org/obo/MONDO_0000021	obsolete short-rib thoracic dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000024	obsolete exostoses, multiple				
http://purl.obolibrary.org/obo/MONDO_0000025	obsolete familial cold autoinflammatory syndrome				
http://purl.obolibrary.org/obo/MONDO_0000026	obsolete Fanconi renotubular syndrome				
http://purl.obolibrary.org/obo/MONDO_0000027	obsolete epilepsy, absence				
http://purl.obolibrary.org/obo/MONDO_0000028	obsolete epilepsy, hot water				
http://purl.obolibrary.org/obo/MONDO_0000029	obsolete corticosterone methyloxidase deficiency				
http://purl.obolibrary.org/obo/MONDO_0000031	obsolete fatty liver disease, nonalcoholic				
http://purl.obolibrary.org/obo/MONDO_0000033	obsolete frontonasal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000034	obsolete glomerulopathy with fibronectin deposits				
http://purl.obolibrary.org/obo/MONDO_0000035	obsolete glucocorticoid deficiency				
http://purl.obolibrary.org/obo/MONDO_0000036	obsolete hemolytic anemia, nonspherocytic				
http://purl.obolibrary.org/obo/MONDO_0000037	obsolete herpes simplex encephalitis, susceptibility				
http://purl.obolibrary.org/obo/MONDO_0000038	obsolete hyper-IgE recurrent infection syndrome				
http://purl.obolibrary.org/obo/MONDO_0000039	obsolete hypercalciuria, absorptive				
http://purl.obolibrary.org/obo/MONDO_0000040	obsolete hyperphenylalaninemia, BH4-deficient				
http://purl.obolibrary.org/obo/MONDO_0000041	obsolete hyperphosphatasia with mental retardation syndrome				
http://purl.obolibrary.org/obo/MONDO_0000042	obsolete hyperprolinemia				
http://purl.obolibrary.org/obo/MONDO_0000043	obsolete hypomagnesemia				
http://purl.obolibrary.org/obo/MONDO_0000047	obsolete immunodeficiency with hyper-IgM				
http://purl.obolibrary.org/obo/MONDO_0000049	obsolete invasive pneumococcal disease, recurrent isolated				
http://purl.obolibrary.org/obo/MONDO_0000051	obsolete keratoderma, palmoplantar striate				
http://purl.obolibrary.org/obo/MONDO_0000053	obsolete macroglobulinemia, Waldenstrom				
http://purl.obolibrary.org/obo/MONDO_0000054	obsolete macular dystrophy				
http://purl.obolibrary.org/obo/MONDO_0000055	obsolete major affective disorder				
http://purl.obolibrary.org/obo/MONDO_0000056	obsolete mandibuloacral dysplasia with lipodystrophy				
http://purl.obolibrary.org/obo/MONDO_0000057	obsolete medullary cystic kidney disease				
http://purl.obolibrary.org/obo/MONDO_0000058	obsolete melanoma, cutaneous malignant				
http://purl.obolibrary.org/obo/MONDO_0000059	obsolete methylmalonic aciduria and homocystinuria				
http://purl.obolibrary.org/obo/MONDO_0000061	obsolete microcephaly, primary, autosomal recessive				
http://purl.obolibrary.org/obo/MONDO_0000063	obsolete molybdenum cofactor deficiency				
http://purl.obolibrary.org/obo/MONDO_0000064	obsolete syndromic microphthalmia				
http://purl.obolibrary.org/obo/MONDO_0000067	obsolete mitochondrial DNA depletion syndrome				
http://purl.obolibrary.org/obo/MONDO_0000068	obsolete mucolipidosis				
http://purl.obolibrary.org/obo/MONDO_0000069	obsolete multiple endocrine neoplasia				
http://purl.obolibrary.org/obo/MONDO_0000072	obsolete myopathy, reducing body, X-linked				
http://purl.obolibrary.org/obo/MONDO_0000073	obsolete nail disorder, nonsyndromic congenital				
http://purl.obolibrary.org/obo/MONDO_0000074	obsolete neurodegeneration with brain iron accumulation				
http://purl.obolibrary.org/obo/MONDO_0000075	obsolete neuronopathy, distal hereditary motor				
http://purl.obolibrary.org/obo/MONDO_0000076	obsolete neuropathy, hereditary sensory and autonomic				
http://purl.obolibrary.org/obo/MONDO_0000077	obsolete nystagmus				
http://purl.obolibrary.org/obo/MONDO_0000080	obsolete Oto-palato-digital syndrome				
http://purl.obolibrary.org/obo/MONDO_0000081	obsolete ovarian dysgenesis				
http://purl.obolibrary.org/obo/MONDO_0000083	obsolete Griscelli syndrome				
http://purl.obolibrary.org/obo/MONDO_0000084	obsolete pigmented nodular adrenocortical disease				
http://purl.obolibrary.org/obo/MONDO_0000085	obsolete pituitary hormone deficiency, combined				
http://purl.obolibrary.org/obo/MONDO_0000086	obsolete polydactyly, preaxial				
http://purl.obolibrary.org/obo/MONDO_0000089	obsolete age-related hearing impairment				
http://purl.obolibrary.org/obo/MONDO_0000091	obsolete progressive familial heart block				
http://purl.obolibrary.org/obo/MONDO_0000092	obsolete pyloric stenosis, infantile				
http://purl.obolibrary.org/obo/MONDO_0000093	obsolete Schistosoma mansoni infection, susceptibility				
http://purl.obolibrary.org/obo/MONDO_0000094	obsolete spherocytosis				
http://purl.obolibrary.org/obo/MONDO_0000095	obsolete split-hand/foot malformation				
http://purl.obolibrary.org/obo/MONDO_0000096	obsolete pulmonary surfactant metabolism dysfunction				
http://purl.obolibrary.org/obo/MONDO_0000097	obsolete thyroid dyshormonogenesis				
http://purl.obolibrary.org/obo/MONDO_0000098	obsolete thyrotoxic periodic paralysis				
http://purl.obolibrary.org/obo/MONDO_0000099	obsolete trichoepithelioma, multiple familial				
http://purl.obolibrary.org/obo/MONDO_0000100	obsolete trichorhinophalangeal syndrome				
http://purl.obolibrary.org/obo/MONDO_0000101	obsolete tumoral calcinosis				
http://purl.obolibrary.org/obo/MONDO_0000102	obsolete vertigo				
http://purl.obolibrary.org/obo/MONDO_0000103	obsolete Wilms tumor				
http://purl.obolibrary.org/obo/MONDO_0000112	obsolete cardioencephalomyopathy, fatal infantile				
http://purl.obolibrary.org/obo/MONDO_0000117	obsolete diarrhea, congenital				
http://purl.obolibrary.org/obo/MONDO_0000120	obsolete ectopia lentis, isolated				
http://purl.obolibrary.org/obo/MONDO_0000121	obsolete emphysema				
http://purl.obolibrary.org/obo/MONDO_0000122	obsolete facial paresis, hereditary congenital				
http://purl.obolibrary.org/obo/MONDO_0000123	obsolete factor V and Factor VIII, combined deficiency of				
http://purl.obolibrary.org/obo/MONDO_0000124	obsolete focal facial dermal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000125	obsolete fundus dystrophy, pseudoinflammatory				
http://purl.obolibrary.org/obo/MONDO_0000126	obsolete gastric cancer				
http://purl.obolibrary.org/obo/MONDO_0000130	obsolete hypercarotenemia and vitamin a deficiency				
http://purl.obolibrary.org/obo/MONDO_0000131	obsolete hyperpigmentation, familial progressive				
http://purl.obolibrary.org/obo/MONDO_0000132	obsolete hypocalcemia				
http://purl.obolibrary.org/obo/MONDO_0000134	obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia				
http://purl.obolibrary.org/obo/MONDO_0000135	obsolete Kenny-Caffey syndrome				
http://purl.obolibrary.org/obo/MONDO_0000139	obsolete microcephalic primordial dwarfism				
http://purl.obolibrary.org/obo/MONDO_0000140	obsolete MONDO:0000140				
http://purl.obolibrary.org/obo/MONDO_0000142	obsolete multiple congenital anomalies-hypotonia-seizures syndrome				
http://purl.obolibrary.org/obo/MONDO_0000143	obsolete multiple mitochondrial dysfunctions syndrome				
http://purl.obolibrary.org/obo/MONDO_0000145	obsolete premature aging syndrome				
http://purl.obolibrary.org/obo/MONDO_0000146	obsolete progeroid syndrome				
http://purl.obolibrary.org/obo/MONDO_0000149	obsolete retinopathy				
http://purl.obolibrary.org/obo/MONDO_0000150	obsolete spondylometaphyseal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000154	obsolete Trichohepatoenteric syndrome				
http://purl.obolibrary.org/obo/MONDO_0000163	obsolete breast-ovarian cancer, familial, susceptibility to				
http://purl.obolibrary.org/obo/MONDO_0000164	obsolete corneal dystrophy, Fuchs endothelial				
http://purl.obolibrary.org/obo/MONDO_0000165	obsolete ectodermal dysplasia-syndactyly syndrome				
http://purl.obolibrary.org/obo/MONDO_0000169	obsolete microphthalmia, isolated, with cataract				
http://purl.obolibrary.org/obo/MONDO_0000174	obsolete split-hand/foot malformation with long bone deficiency				
http://purl.obolibrary.org/obo/MONDO_0000175	obsolete ataxia-telangiectasia-like disorder				
http://purl.obolibrary.org/obo/MONDO_0000176	obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome				
http://purl.obolibrary.org/obo/MONDO_0000177	obsolete laryngeal abductor paralysis				
http://purl.obolibrary.org/obo/MONDO_0000180	obsolete inflammatory skin and bowel disease, neonatal				
http://purl.obolibrary.org/obo/MONDO_0000183	obsolete hypertrophic osteoarthropathy, primary				
http://purl.obolibrary.org/obo/MONDO_0000184	obsolete congenital vitamin K-dependent coagulation factors combined deficiency				
http://purl.obolibrary.org/obo/MONDO_0000185	obsolete polyposis syndrome, hereditary mixed				
http://purl.obolibrary.org/obo/MONDO_0000186	obsolete spondyloepimetaphyseal dysplasia with joint laxity				
http://purl.obolibrary.org/obo/MONDO_0000187	obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome				
http://purl.obolibrary.org/obo/MONDO_0000189	obsolete Schindler disease				
http://purl.obolibrary.org/obo/MONDO_0000191	obsolete renal hypodysplasia/aplasia				
http://purl.obolibrary.org/obo/MONDO_0000194	obsolete Otofaciocervical syndrome				
http://purl.obolibrary.org/obo/MONDO_0000195	obsolete atrial standstill				
http://purl.obolibrary.org/obo/MONDO_0000197	obsolete singleton-Merten syndrome				
http://purl.obolibrary.org/obo/MONDO_0000198	obsolete linear skin defects with multiple congenital anomalies				
http://purl.obolibrary.org/obo/MONDO_0000199	obsolete familial adenomatous polyposis				
http://purl.obolibrary.org/obo/MONDO_0000201	obsolete thyroid cancer, nonmedullary				
http://purl.obolibrary.org/obo/MONDO_0000202	obsolete Heimler syndrome				
http://purl.obolibrary.org/obo/MONDO_0000203	obsolete Dehydrated hereditary stomatocytosis				
http://purl.obolibrary.org/obo/MONDO_0000204	obsolete skin creases, congenital symmetric circumferential				
http://purl.obolibrary.org/obo/MONDO_0000205	obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia				
http://purl.obolibrary.org/obo/MONDO_0000206	obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy				
http://purl.obolibrary.org/obo/MONDO_0000207	obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies				
http://purl.obolibrary.org/obo/MONDO_0000217	obsolete Frontometaphyseal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000218	obsolete preimplantation embryonic lethality				
http://purl.obolibrary.org/obo/MONDO_0000219	obsolete uncombable hair syndrome				
http://purl.obolibrary.org/obo/MONDO_0000220	obsolete anterior segment dysgenesis				
http://purl.obolibrary.org/obo/MONDO_0000221	obsolete cerebroretinal microangiopathy with calcifications and cysts				
http://purl.obolibrary.org/obo/MONDO_0000223	obsolete chikungunya				
http://purl.obolibrary.org/obo/MONDO_0000235	obsolete Rocky mountain spotted fever				
http://purl.obolibrary.org/obo/MONDO_0000246	obsolete la Crosse encephalitis				
http://purl.obolibrary.org/obo/MONDO_0000258	obsolete intestinal botulism				
http://purl.obolibrary.org/obo/MONDO_0000264	obsolete Pontiac fever				
http://purl.obolibrary.org/obo/MONDO_0000267	obsolete cryptogenic organizing pneumonia				
http://purl.obolibrary.org/obo/MONDO_0000268	obsolete lymphoid interstitial pneumonia				
http://purl.obolibrary.org/obo/MONDO_0000269	obsolete inhalation anthrax				
http://purl.obolibrary.org/obo/MONDO_0000274	obsolete tick-borne encephalitis				
http://purl.obolibrary.org/obo/MONDO_0000277	obsolete Argentine hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0000278	obsolete Bolivian hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0000279	obsolete Venezuelan hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0000280	obsolete Brazilian hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0000281	obsolete Chapare hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0000285	obsolete lujo hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0000287	obsolete Lambert-Eaton myasthenic syndrome				
http://purl.obolibrary.org/obo/MONDO_0000296	obsolete angiostrongyliasis				
http://purl.obolibrary.org/obo/MONDO_0000300	obsolete tungiasis				
http://purl.obolibrary.org/obo/MONDO_0000305	obsolete fusariosis				
http://purl.obolibrary.org/obo/MONDO_0000311	obsolete congenital hypothyroidism				
http://purl.obolibrary.org/obo/MONDO_0000317	obsolete foodborne botulism				
http://purl.obolibrary.org/obo/MONDO_0000318	obsolete wound botulism				
http://purl.obolibrary.org/obo/MONDO_0000319	obsolete infant botulism				
http://purl.obolibrary.org/obo/MONDO_0000323	obsolete familial adenomatous polyposis				
http://purl.obolibrary.org/obo/MONDO_0000324	obsolete familial partial lipodystrophy				
http://purl.obolibrary.org/obo/MONDO_0000325	obsolete pachyonychia congenita				
http://purl.obolibrary.org/obo/MONDO_0000326	obsolete lissencephaly				
http://purl.obolibrary.org/obo/MONDO_0000329	obsolete epidemic typhus				
http://purl.obolibrary.org/obo/MONDO_0000349	obsolete Charcot-Marie-Tooth disease type 1				
http://purl.obolibrary.org/obo/MONDO_0000352	obsolete hereditary sensory neuropathy				
http://purl.obolibrary.org/obo/MONDO_0000353	obsolete Saldino-Noonan syndrome				
http://purl.obolibrary.org/obo/MONDO_0000354	obsolete JMP syndrome				
http://purl.obolibrary.org/obo/MONDO_0000356	obsolete Walker-Warburg syndrome				
http://purl.obolibrary.org/obo/MONDO_0000357	obsolete West syndrome				
http://purl.obolibrary.org/obo/MONDO_0000360	obsolete 2-hydroxyglutaric aciduria				
http://purl.obolibrary.org/obo/MONDO_0000361	obsolete d-2-hydroxyglutaric aciduria				
http://purl.obolibrary.org/obo/MONDO_0000364	obsolete severe congenital neutropenia				
http://purl.obolibrary.org/obo/MONDO_0000391	obsolete Bethlem myopathy				
http://purl.obolibrary.org/obo/MONDO_0000392	obsolete fetal alcohol syndrome				
http://purl.obolibrary.org/obo/MONDO_0000401	obsolete congenital bile acid synthesis defect				
http://purl.obolibrary.org/obo/MONDO_0000418	obsolete Ohtahara syndrome				
http://purl.obolibrary.org/obo/MONDO_0000419	obsolete 3-Methylcrotonyl-CoA carboxylase deficiency				
http://purl.obolibrary.org/obo/MONDO_0000427	obsolete autosomal recessive disease				
http://purl.obolibrary.org/obo/MONDO_0000431	obsolete mantle cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0000433	obsolete marginal zone B-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0000435	obsolete splenic marginal zone lymphoma				
http://purl.obolibrary.org/obo/MONDO_0000436	obsolete T-cell large granular lymphocyte leukemia				
http://purl.obolibrary.org/obo/MONDO_0000439	obsolete batten disease				
http://purl.obolibrary.org/obo/MONDO_0000441	obsolete X-linked myopathy with excessive autophagy				
http://purl.obolibrary.org/obo/MONDO_0000445	obsolete neuroacanthocytosis				
http://purl.obolibrary.org/obo/MONDO_0000454	obsolete multiple synostoses syndrome				
http://purl.obolibrary.org/obo/MONDO_0000464	obsolete Stargardt disease				
http://purl.obolibrary.org/obo/MONDO_0000472	obsolete rheumatic heart disease				
http://purl.obolibrary.org/obo/MONDO_0000484	obsolete oromandibular dystonia				
http://purl.obolibrary.org/obo/MONDO_0000493	obsolete Muckle-Wells syndrome				
http://purl.obolibrary.org/obo/MONDO_0000504	obsolete follicular lymphoma				
http://purl.obolibrary.org/obo/MONDO_0000506	obsolete Caroli disease				
http://purl.obolibrary.org/obo/MONDO_0000511	obsolete gallbladder adenoma				
http://purl.obolibrary.org/obo/MONDO_0000512	obsolete ameloblastoma				
http://purl.obolibrary.org/obo/MONDO_0000522	obsolete inflammatory myofibroblastic tumor				
http://purl.obolibrary.org/obo/MONDO_0000523	obsolete conjunctival nevus				
http://purl.obolibrary.org/obo/MONDO_0000533	obsolete vaginal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0000546	obsolete parotid gland adenoid cystic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0000555	obsolete autosomal recessive hypophosphatemic rickets				
http://purl.obolibrary.org/obo/MONDO_0000556	obsolete autosomal recessive cerebellar ataxia				
http://purl.obolibrary.org/obo/MONDO_0000558	obsolete spastic ataxia				
http://purl.obolibrary.org/obo/MONDO_0000560	obsolete spinocerebellar ataxia type 4				
http://purl.obolibrary.org/obo/MONDO_0000564	obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome				
http://purl.obolibrary.org/obo/MONDO_0000567	obsolete C1 inhibitor deficiency				
http://purl.obolibrary.org/obo/MONDO_0000582	obsolete immunoglobulin alpha deficiency				
http://purl.obolibrary.org/obo/MONDO_0000585	obsolete Good syndrome				
http://purl.obolibrary.org/obo/MONDO_0000613	obsolete estrogen-receptor positive breast cancer				
http://purl.obolibrary.org/obo/MONDO_0000614	obsolete estrogen-receptor negative breast cancer				
http://purl.obolibrary.org/obo/MONDO_0000635	obsolete osteoblastoma				
http://purl.obolibrary.org/obo/MONDO_0000655	obsolete heavy chain disease				
http://purl.obolibrary.org/obo/MONDO_0000692	obsolete Kleine-Levin syndrome				
http://purl.obolibrary.org/obo/MONDO_0000695	obsolete histidinemia				
http://purl.obolibrary.org/obo/MONDO_0000696	obsolete juvenile absence epilepsy				
http://purl.obolibrary.org/obo/MONDO_0000697	obsolete succinic semialdehyde dehydrogenase deficiency				
http://purl.obolibrary.org/obo/MONDO_0000699	obsolete homocarnosinosis				
http://purl.obolibrary.org/obo/MONDO_0000717	obsolete acrofrontofacionasal dysostosis				
http://purl.obolibrary.org/obo/MONDO_0000718	obsolete Adams-Oliver syndrome				
http://purl.obolibrary.org/obo/MONDO_0000719	obsolete Baraitser-winter syndrome				
http://purl.obolibrary.org/obo/MONDO_0000725	obsolete Simpson-Golabi-Behmel syndrome				
http://purl.obolibrary.org/obo/MONDO_0000729	obsolete congenital ptosis				
http://purl.obolibrary.org/obo/MONDO_0000731	obsolete peeling skin syndrome				
http://purl.obolibrary.org/obo/MONDO_0000735	obsolete oculodentodigital dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000737	obsolete megalocornea				
http://purl.obolibrary.org/obo/MONDO_0000752	obsolete myelomeningocele				
http://purl.obolibrary.org/obo/MONDO_0000753	obsolete omphalocele				
http://purl.obolibrary.org/obo/MONDO_0000759	obsolete acrorenal syndrome				
http://purl.obolibrary.org/obo/MONDO_0000760	obsolete acrofacial dysostosis				
http://purl.obolibrary.org/obo/MONDO_0000767	obsolete nut midline carcinoma				
http://purl.obolibrary.org/obo/MONDO_0000768	obsolete Zika fever				
http://purl.obolibrary.org/obo/MONDO_0000808	obsolete hepatoid adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0000818	obsolete lethal congenital contracture syndrome 4				
http://purl.obolibrary.org/obo/MONDO_0000822	obsolete lymphoproliferative syndrome				
http://purl.obolibrary.org/obo/MONDO_0000825	obsolete hypomyelinating leukodystrophy				
http://purl.obolibrary.org/obo/MONDO_0000829	obsolete early-onset Parkinson disease				
http://purl.obolibrary.org/obo/MONDO_0000830	obsolete Waldenstroem's macroglobulinemia				
http://purl.obolibrary.org/obo/MONDO_0000832	obsolete myeloid neoplasm				
http://purl.obolibrary.org/obo/MONDO_0000846	obsolete craniodiaphyseal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000847	obsolete pycnodysostosis				
http://purl.obolibrary.org/obo/MONDO_0000848	obsolete axial osteomalacia				
http://purl.obolibrary.org/obo/MONDO_0000850	obsolete hypochondroplasia				
http://purl.obolibrary.org/obo/MONDO_0000851	obsolete achondrogenesis				
http://purl.obolibrary.org/obo/MONDO_0000852	obsolete hypochondrogenesis				
http://purl.obolibrary.org/obo/MONDO_0000853	obsolete Kniest dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000854	obsolete Stickler syndrome				
http://purl.obolibrary.org/obo/MONDO_0000855	obsolete acromesomelic dysplasia				
http://purl.obolibrary.org/obo/MONDO_0000860	obsolete neural tube defect				
http://purl.obolibrary.org/obo/MONDO_0000861	obsolete tubular aggregate myopathy				
http://purl.obolibrary.org/obo/MONDO_0000862	obsolete reducing body myopathy				
http://purl.obolibrary.org/obo/MONDO_0000864	obsolete congenital myopathy				
http://purl.obolibrary.org/obo/MONDO_0000867	obsolete multiple pterygium syndrome				
http://purl.obolibrary.org/obo/MONDO_0000876	obsolete herpes simplex virus keratitis				
http://purl.obolibrary.org/obo/MONDO_0000877	obsolete Cryptococcal meningitis				
http://purl.obolibrary.org/obo/MONDO_0000880	obsolete lupus nephritis				
http://purl.obolibrary.org/obo/MONDO_0000885	obsolete cloacal exstrophy				
http://purl.obolibrary.org/obo/MONDO_0000886	obsolete meningococcal meningitis				
http://purl.obolibrary.org/obo/MONDO_0000887	obsolete hepatic veno-occlusive disease				
http://purl.obolibrary.org/obo/MONDO_0000896	obsolete chronic neutrophilic leukemia				
http://purl.obolibrary.org/obo/MONDO_0000897	obsolete chronic myelomonocytic leukemia				
http://purl.obolibrary.org/obo/MONDO_0000900	obsolete PTEN hamartoma tumor syndrome				
http://purl.obolibrary.org/obo/MONDO_0000905	obsolete cortisone reductase deficiency				
http://purl.obolibrary.org/obo/MONDO_0000906	obsolete Alzheimer disease 5				
http://purl.obolibrary.org/obo/MONDO_0000917	obsolete thyroid lymphoma				
http://purl.obolibrary.org/obo/MONDO_0000985	obsolete ehrlichiosis				
http://purl.obolibrary.org/obo/MONDO_0000998	obsolete parotid disease				
http://purl.obolibrary.org/obo/MONDO_0000999	obsolete pneumoconiosis				
http://purl.obolibrary.org/obo/MONDO_0001043	obsolete diaphragm disease				
http://purl.obolibrary.org/obo/MONDO_0001047	obsolete adrenal cortical hypofunction				
http://purl.obolibrary.org/obo/MONDO_0001069	obsolete leukodystrophy				
http://purl.obolibrary.org/obo/MONDO_0001077	obsolete short bowel syndrome				
http://purl.obolibrary.org/obo/MONDO_0001097	obsolete juvenile glaucoma				
http://purl.obolibrary.org/obo/MONDO_0001102	obsolete chronic endophthalmitis				
http://purl.obolibrary.org/obo/MONDO_0001111	obsolete thrombotic thrombocytopenic purpura				
http://purl.obolibrary.org/obo/MONDO_0001124	obsolete filariasis				
http://purl.obolibrary.org/obo/MONDO_0001131	obsolete duodenum adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0001140	obsolete Edwards syndrome				
http://purl.obolibrary.org/obo/MONDO_0001194	obsolete rickettsialpox				
http://purl.obolibrary.org/obo/MONDO_0001248	obsolete rabies				
http://purl.obolibrary.org/obo/MONDO_0001264	obsolete Kyasanur forest disease				
http://purl.obolibrary.org/obo/MONDO_0001267	obsolete Lemierre syndrome				
http://purl.obolibrary.org/obo/MONDO_0001311	obsolete Chandler syndrome				
http://purl.obolibrary.org/obo/MONDO_0001344	obsolete neonatal diabetes mellitus				
http://purl.obolibrary.org/obo/MONDO_0001348	obsolete Lyme disease				
http://purl.obolibrary.org/obo/MONDO_0001354	obsolete acute endophthalmitis				
http://purl.obolibrary.org/obo/MONDO_0001425	obsolete Rett syndrome				
http://purl.obolibrary.org/obo/MONDO_0001448	obsolete alveolar echinococcosis				
http://purl.obolibrary.org/obo/MONDO_0001450	obsolete arachnoiditis				
http://purl.obolibrary.org/obo/MONDO_0001477	obsolete aniridia				
http://purl.obolibrary.org/obo/MONDO_0001483	obsolete Crimean-Congo hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0001486	obsolete Vogt-Koyanagi-Harada disease				
http://purl.obolibrary.org/obo/MONDO_0001489	obsolete urticaria pigmentosa				
http://purl.obolibrary.org/obo/MONDO_0001550	obsolete Duane retraction syndrome				
http://purl.obolibrary.org/obo/MONDO_0001570	obsolete locked-in syndrome				
http://purl.obolibrary.org/obo/MONDO_0001573	obsolete Friedreich ataxia				
http://purl.obolibrary.org/obo/MONDO_0001581	obsolete tolosa-hunt syndrome				
http://purl.obolibrary.org/obo/MONDO_0001619	obsolete relapsing fever				
http://purl.obolibrary.org/obo/MONDO_0001669	obsolete lung cancer				
http://purl.obolibrary.org/obo/MONDO_0001675	obsolete porphyria				
http://purl.obolibrary.org/obo/MONDO_0001677	obsolete Rift valley fever				
http://purl.obolibrary.org/obo/MONDO_0001696	obsolete Ehlers-Danlos syndrome				
http://purl.obolibrary.org/obo/MONDO_0001738	obsolete osteopetrosis				
http://purl.obolibrary.org/obo/MONDO_0001755	obsolete vaginal carcinosarcoma				
http://purl.obolibrary.org/obo/MONDO_0001759	obsolete patent foramen ovale				
http://purl.obolibrary.org/obo/MONDO_0001796	obsolete epidermodysplasia verruciformis				
http://purl.obolibrary.org/obo/MONDO_0001814	obsolete patent ductus arteriosus				
http://purl.obolibrary.org/obo/MONDO_0001826	obsolete hypobetalipoproteinemia				
http://purl.obolibrary.org/obo/MONDO_0001839	obsolete interstitial cystitis				
http://purl.obolibrary.org/obo/MONDO_0001840	obsolete schistosomiasis				
http://purl.obolibrary.org/obo/MONDO_0001891	obsolete malignant anus melanoma				
http://purl.obolibrary.org/obo/MONDO_0001900	obsolete central neurocytoma				
http://purl.obolibrary.org/obo/MONDO_0001908	obsolete hypophosphatasia				
http://purl.obolibrary.org/obo/MONDO_0001934	obsolete primary hypertrophic osteoarthropathy				
http://purl.obolibrary.org/obo/MONDO_0001958	obsolete autosomal dominant cerebellar ataxia				
http://purl.obolibrary.org/obo/MONDO_0001961	obsolete glossopharyngeal neuralgia				
http://purl.obolibrary.org/obo/MONDO_0001963	obsolete cerebral degeneration disease				
http://purl.obolibrary.org/obo/MONDO_0001970	obsolete hypokalemic periodic paralysis				
http://purl.obolibrary.org/obo/MONDO_0001980	obsolete Wolman disease				
http://purl.obolibrary.org/obo/MONDO_0002005	obsolete acrodysostosis				
http://purl.obolibrary.org/obo/MONDO_0002011	obsolete hereditary angioedema				
http://purl.obolibrary.org/obo/MONDO_0002015	obsolete brittle cornea syndrome				
http://purl.obolibrary.org/obo/MONDO_0002018	obsolete Leber congenital amaurosis				
http://purl.obolibrary.org/obo/MONDO_0002019	obsolete hypohidrotic ectodermal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0002020	obsolete Blount disease				
http://purl.obolibrary.org/obo/MONDO_0002023	obsolete cystic echinococcosis				
http://purl.obolibrary.org/obo/MONDO_0002024	obsolete cholera				
http://purl.obolibrary.org/obo/MONDO_0002054	obsolete breast cancer				
http://purl.obolibrary.org/obo/MONDO_0002079	obsolete neuroendocrine tumor				
http://purl.obolibrary.org/obo/MONDO_0002091	obsolete cryptosporidiosis				
http://purl.obolibrary.org/obo/MONDO_0002094	obsolete conjunctival squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002097	obsolete ocular melanoma				
http://purl.obolibrary.org/obo/MONDO_0002111	obsolete peritoneal mesothelioma				
http://purl.obolibrary.org/obo/MONDO_0002115	obsolete pancreatic cancer				
http://purl.obolibrary.org/obo/MONDO_0002126	obsolete childhood absence epilepsy				
http://purl.obolibrary.org/obo/MONDO_0002147	obsolete Coffin-Siris syndrome				
http://purl.obolibrary.org/obo/MONDO_0002148	obsolete sphingolipidosis				
http://purl.obolibrary.org/obo/MONDO_0002151	obsolete dysostosis				
http://purl.obolibrary.org/obo/MONDO_0002157	obsolete fallopian tube carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002160	obsolete cerebral palsy				
http://purl.obolibrary.org/obo/MONDO_0002161	obsolete fallopian tube carcinosarcoma				
http://purl.obolibrary.org/obo/MONDO_0002179	obsolete placental choriocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0002180	obsolete gestational choriocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0002213	obsolete tularemia				
http://purl.obolibrary.org/obo/MONDO_0002215	obsolete atypical teratoid rhabdoid tumor				
http://purl.obolibrary.org/obo/MONDO_0002248	obsolete myeloproliferative neoplasm				
http://purl.obolibrary.org/obo/MONDO_0002284	obsolete gangliosidosis				
http://purl.obolibrary.org/obo/MONDO_0002288	obsolete ovarian cancer				
http://purl.obolibrary.org/obo/MONDO_0002292	obsolete granular cell tumor				
http://purl.obolibrary.org/obo/MONDO_0002294	obsolete gangliocytoma				
http://purl.obolibrary.org/obo/MONDO_0002296	obsolete glomus tumor				
http://purl.obolibrary.org/obo/MONDO_0002302	obsolete acromegaly				
http://purl.obolibrary.org/obo/MONDO_0002315	obsolete hereditary spastic paraplegia				
http://purl.obolibrary.org/obo/MONDO_0002339	obsolete hemangioma				
http://purl.obolibrary.org/obo/MONDO_0002344	obsolete corneal dystrophy				
http://purl.obolibrary.org/obo/MONDO_0002348	obsolete chondrodysplasia punctata				
http://purl.obolibrary.org/obo/MONDO_0002349	obsolete agammaglobulinemia				
http://purl.obolibrary.org/obo/MONDO_0002374	obsolete parachordoma				
http://purl.obolibrary.org/obo/MONDO_0002384	obsolete transitional cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002389	obsolete adenofibroma				
http://purl.obolibrary.org/obo/MONDO_0002390	obsolete ossifying fibromyxoid tumor				
http://purl.obolibrary.org/obo/MONDO_0002391	obsolete skin sarcoma				
http://purl.obolibrary.org/obo/MONDO_0002392	obsolete lymphangiosarcoma				
http://purl.obolibrary.org/obo/MONDO_0002394	obsolete Leydig cell tumor				
http://purl.obolibrary.org/obo/MONDO_0002417	obsolete ethmoid sinus adenoid cystic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002421	obsolete chorioangioma				
http://purl.obolibrary.org/obo/MONDO_0002430	obsolete acute interstitial pneumonia				
http://purl.obolibrary.org/obo/MONDO_0002439	obsolete stress polycythemia				
http://purl.obolibrary.org/obo/MONDO_0002445	obsolete hemoglobin c disease				
http://purl.obolibrary.org/obo/MONDO_0002446	obsolete hemoglobinopathy				
http://purl.obolibrary.org/obo/MONDO_0002458	obsolete acute pancreatitis				
http://purl.obolibrary.org/obo/MONDO_0002499	obsolete astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0002500	obsolete gliosarcoma				
http://purl.obolibrary.org/obo/MONDO_0002502	obsolete giant cell glioblastoma				
http://purl.obolibrary.org/obo/MONDO_0002538	obsolete progressive muscular atrophy				
http://purl.obolibrary.org/obo/MONDO_0002539	obsolete oligodendroglioma				
http://purl.obolibrary.org/obo/MONDO_0002560	obsolete junctional epidermolysis bullosa				
http://purl.obolibrary.org/obo/MONDO_0002566	obsolete complex regional pain syndrome				
http://purl.obolibrary.org/obo/MONDO_0002573	obsolete pleomorphic rhabdomyosarcoma				
http://purl.obolibrary.org/obo/MONDO_0002575	obsolete prostate rhabdomyosarcoma				
http://purl.obolibrary.org/obo/MONDO_0002584	obsolete syringomyelia				
http://purl.obolibrary.org/obo/MONDO_0002593	obsolete thymic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002596	obsolete chordoma				
http://purl.obolibrary.org/obo/MONDO_0002607	obsolete lymphangioleiomyomatosis				
http://purl.obolibrary.org/obo/MONDO_0002662	obsolete plague				
http://purl.obolibrary.org/obo/MONDO_0002668	obsolete gallbladder adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0002673	obsolete dermatofibrosarcoma protuberans				
http://purl.obolibrary.org/obo/MONDO_0002689	obsolete pseudomyxoma peritonei				
http://purl.obolibrary.org/obo/MONDO_0002690	obsolete meningioma				
http://purl.obolibrary.org/obo/MONDO_0002704	obsolete appendix adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0002709	obsolete Kallmann syndrome				
http://purl.obolibrary.org/obo/MONDO_0002711	obsolete angiolipoma				
http://purl.obolibrary.org/obo/MONDO_0002774	obsolete chordoid glioma				
http://purl.obolibrary.org/obo/MONDO_0002777	obsolete pleural empyema				
http://purl.obolibrary.org/obo/MONDO_0002784	obsolete craniopharyngioma				
http://purl.obolibrary.org/obo/MONDO_0002819	obsolete Loeffler endocarditis				
http://purl.obolibrary.org/obo/MONDO_0002820	obsolete thyroid carcinoma				
http://purl.obolibrary.org/obo/MONDO_0002826	obsolete tuberculosis				
http://purl.obolibrary.org/obo/MONDO_0002841	obsolete eosinophilic gastroenteritis				
http://purl.obolibrary.org/obo/MONDO_0002902	obsolete pseudohypoparathyroidism				
http://purl.obolibrary.org/obo/MONDO_0002980	obsolete myofibroma				
http://purl.obolibrary.org/obo/MONDO_0002983	obsolete neuromuscular junction disease				
http://purl.obolibrary.org/obo/MONDO_0002992	obsolete juvenile xanthogranuloma				
http://purl.obolibrary.org/obo/MONDO_0003013	obsolete pseudohypoaldosteronism				
http://purl.obolibrary.org/obo/MONDO_0003016	obsolete sarcomatoid mesothelioma				
http://purl.obolibrary.org/obo/MONDO_0003063	obsolete hydranencephaly				
http://purl.obolibrary.org/obo/MONDO_0003071	obsolete epidermolysis bullosa simplex				
http://purl.obolibrary.org/obo/MONDO_0003080	obsolete indolent systemic mastocytosis				
http://purl.obolibrary.org/obo/MONDO_0003094	obsolete mucoepidermoid thyroid carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003099	obsolete endophthalmitis				
http://purl.obolibrary.org/obo/MONDO_0003101	obsolete intraneural perineurioma				
http://purl.obolibrary.org/obo/MONDO_0003102	obsolete perineurioma				
http://purl.obolibrary.org/obo/MONDO_0003116	obsolete calciphylaxis				
http://purl.obolibrary.org/obo/MONDO_0003123	obsolete multiple system atrophy				
http://purl.obolibrary.org/obo/MONDO_0003131	obsolete congenital mesoblastic nephroma				
http://purl.obolibrary.org/obo/MONDO_0003132	obsolete rapidly progressive glomerulonephritis				
http://purl.obolibrary.org/obo/MONDO_0003146	obsolete ependymoblastoma				
http://purl.obolibrary.org/obo/MONDO_0003149	obsolete aggressive systemic mastocytosis				
http://purl.obolibrary.org/obo/MONDO_0003156	obsolete adenosquamous carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003162	obsolete pilomyxoid astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0003166	obsolete pilocytic astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0003167	obsolete pleomorphic xanthoastrocytoma				
http://purl.obolibrary.org/obo/MONDO_0003176	obsolete cervical adenoid cystic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003178	obsolete laryngeal adenoid cystic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003179	obsolete lacrimal gland adenoid cystic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003188	obsolete juvenile myoclonic epilepsy				
http://purl.obolibrary.org/obo/MONDO_0003203	obsolete pituitary carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003213	obsolete ampulla of vater carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003217	obsolete ureter carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003224	obsolete spindle cell hemangioma				
http://purl.obolibrary.org/obo/MONDO_0003226	obsolete Nelson syndrome				
http://purl.obolibrary.org/obo/MONDO_0003228	obsolete myelodysplastic/myeloproliferative neoplasm				
http://purl.obolibrary.org/obo/MONDO_0003229	obsolete lymphedema				
http://purl.obolibrary.org/obo/MONDO_0003239	obsolete Camurati-Engelmann disease				
http://purl.obolibrary.org/obo/MONDO_0003242	obsolete fibrolamellar carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003247	obsolete pineal parenchymal tumor of intermediate differentiation				
http://purl.obolibrary.org/obo/MONDO_0003259	obsolete melioidosis				
http://purl.obolibrary.org/obo/MONDO_0003267	obsolete myxopapillary ependymoma				
http://purl.obolibrary.org/obo/MONDO_0003269	obsolete subependymal giant cell astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0003270	obsolete ganglioglioma				
http://purl.obolibrary.org/obo/MONDO_0003339	obsolete hepatoerythropoietic porphyria				
http://purl.obolibrary.org/obo/MONDO_0003344	obsolete hemangioblastoma				
http://purl.obolibrary.org/obo/MONDO_0003385	obsolete cervical clear cell adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003415	obsolete hemoglobin d disease				
http://purl.obolibrary.org/obo/MONDO_0003416	obsolete hemoglobin E disease				
http://purl.obolibrary.org/obo/MONDO_0003418	obsolete bile duct adenoma				
http://purl.obolibrary.org/obo/MONDO_0003440	obsolete bladder flat intraepithelial lesion				
http://purl.obolibrary.org/obo/MONDO_0003449	obsolete syringocystadenoma papilliferum				
http://purl.obolibrary.org/obo/MONDO_0003451	obsolete laryngeal neuroendocrine tumor				
http://purl.obolibrary.org/obo/MONDO_0003457	obsolete ovarian serous adenofibroma				
http://purl.obolibrary.org/obo/MONDO_0003483	obsolete gastric squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003488	obsolete anal squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003489	obsolete middle ear squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003496	obsolete endometrial squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003498	obsolete gallbladder squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003521	obsolete VIPoma				
http://purl.obolibrary.org/obo/MONDO_0003526	obsolete lung giant cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003533	obsolete gastric papillary adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003536	obsolete fallopian tube serous adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0003559	obsolete cervical adenosquamous carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003566	obsolete choroid plexus carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003577	obsolete cribriform carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003583	obsolete atypical lipomatous tumor				
http://purl.obolibrary.org/obo/MONDO_0003642	obsolete oral submucous fibrosis				
http://purl.obolibrary.org/obo/MONDO_0003696	obsolete meningeal melanocytoma				
http://purl.obolibrary.org/obo/MONDO_0003711	obsolete malignant peripheral nerve sheath tumor				
http://purl.obolibrary.org/obo/MONDO_0003779	obsolete gliomatosis cerebri				
http://purl.obolibrary.org/obo/MONDO_0003793	obsolete uterine carcinosarcoma				
http://purl.obolibrary.org/obo/MONDO_0003798	obsolete epithelioid sarcoma				
http://purl.obolibrary.org/obo/MONDO_0003815	obsolete Cronkhite-Canada syndrome				
http://purl.obolibrary.org/obo/MONDO_0003823	obsolete transient hypogammaglobulinemia of infancy				
http://purl.obolibrary.org/obo/MONDO_0003854	obsolete tibial adamantinoma				
http://purl.obolibrary.org/obo/MONDO_0003871	obsolete metanephric adenoma				
http://purl.obolibrary.org/obo/MONDO_0003877	obsolete cervical adenoid basal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0003883	obsolete cerebellar liponeurocytoma				
http://purl.obolibrary.org/obo/MONDO_0003919	obsolete inherited metabolic disorder				
http://purl.obolibrary.org/obo/MONDO_0003974	obsolete malignant triton tumor				
http://purl.obolibrary.org/obo/MONDO_0003977	obsolete fibrillary astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0004002	obsolete pancreatoblastoma				
http://purl.obolibrary.org/obo/MONDO_0004011	obsolete familial melanoma				
http://purl.obolibrary.org/obo/MONDO_0004023	obsolete hepatoblastoma				
http://purl.obolibrary.org/obo/MONDO_0004027	obsolete embryonal cancer				
http://purl.obolibrary.org/obo/MONDO_0004029	obsolete ureter small cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004061	obsolete mitochondrial myopathy				
http://purl.obolibrary.org/obo/MONDO_0004070	obsolete gemistocytic astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0004072	obsolete protoplasmic astrocytoma				
http://purl.obolibrary.org/obo/MONDO_0004073	obsolete dentin dysplasia				
http://purl.obolibrary.org/obo/MONDO_0004119	obsolete endometrial small cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004121	obsolete prostate small cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004123	obsolete laryngeal small cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004138	obsolete maxillary sinus adenoid cystic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0004171	obsolete congenital epulis				
http://purl.obolibrary.org/obo/MONDO_0004179	obsolete astroblastoma				
http://purl.obolibrary.org/obo/MONDO_0004246	obsolete lymphatic system disease				
http://purl.obolibrary.org/obo/MONDO_0004282	obsolete eccrine porocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0004362	obsolete placenta disease				
http://purl.obolibrary.org/obo/MONDO_0004470	obsolete osteochondrosis				
http://purl.obolibrary.org/obo/MONDO_0004576	obsolete pellagra				
http://purl.obolibrary.org/obo/MONDO_0004602	obsolete polymyalgia rheumatica				
http://purl.obolibrary.org/obo/MONDO_0004606	obsolete pyoderma gangrenosum				
http://purl.obolibrary.org/obo/MONDO_0004610	obsolete multiple carboxylase deficiency				
http://purl.obolibrary.org/obo/MONDO_0004654	obsolete pyomyositis				
http://purl.obolibrary.org/obo/MONDO_0004692	obsolete choledochal cyst				
http://purl.obolibrary.org/obo/MONDO_0004704	obsolete peroxisomal disease				
http://purl.obolibrary.org/obo/MONDO_0004722	obsolete Wiskott-Aldrich syndrome				
http://purl.obolibrary.org/obo/MONDO_0004734	obsolete erythromelalgia				
http://purl.obolibrary.org/obo/MONDO_0004735	obsolete Alagille syndrome				
http://purl.obolibrary.org/obo/MONDO_0004740	obsolete hyperlysinemia				
http://purl.obolibrary.org/obo/MONDO_0004776	obsolete infectious anterior uveitis				
http://purl.obolibrary.org/obo/MONDO_0004783	obsolete panhypopituitarism				
http://purl.obolibrary.org/obo/MONDO_0004791	obsolete lipid storage disease				
http://purl.obolibrary.org/obo/MONDO_0004793	obsolete uterine corpus cancer				
http://purl.obolibrary.org/obo/MONDO_0004798	obsolete Sheehan syndrome				
http://purl.obolibrary.org/obo/MONDO_0004825	obsolete encephalitis				
http://purl.obolibrary.org/obo/MONDO_0004839	obsolete neurofibroma				
http://purl.obolibrary.org/obo/MONDO_0004850	obsolete yellow fever				
http://purl.obolibrary.org/obo/MONDO_0004870	obsolete diabetic neuropathy				
http://purl.obolibrary.org/obo/MONDO_0004887	obsolete polyarteritis nodosa				
http://purl.obolibrary.org/obo/MONDO_0004912	obsolete muscular dystrophy				
http://purl.obolibrary.org/obo/MONDO_0004921	obsolete Omsk hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0004954	obsolete malt lymphoma				
http://purl.obolibrary.org/obo/MONDO_0004968	obsolete acute myelomonocytic leukemia				
http://purl.obolibrary.org/obo/MONDO_0004998	obsolete chondromyxoid fibroma				
http://purl.obolibrary.org/obo/MONDO_0004999	obsolete chondrosarcoma				
http://purl.obolibrary.org/obo/MONDO_0005000	obsolete chromophobe renal cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0005038	obsolete genetic disorder				
http://purl.obolibrary.org/obo/MONDO_0005064	obsolete infectious meningitis				
http://purl.obolibrary.org/obo/MONDO_0005088	obsolete rheumatoid arthritis				
http://purl.obolibrary.org/obo/MONDO_0005107	obsolete hepatocellular adenoma				
http://purl.obolibrary.org/obo/MONDO_0005158	obsolete coronary heart disease				
http://purl.obolibrary.org/obo/MONDO_0005162	obsolete influenza infection				
http://purl.obolibrary.org/obo/MONDO_0005205	obsolete systemic lupus erythematosus				
http://purl.obolibrary.org/obo/MONDO_0005209	obsolete cutaneous T-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0005225	obsolete acute myeloblastic leukemia with maturation				
http://purl.obolibrary.org/obo/MONDO_0005226	obsolete acute basophilic leukemia				
http://purl.obolibrary.org/obo/MONDO_0005237	obsolete pleomorphic liposarcoma				
http://purl.obolibrary.org/obo/MONDO_0005239	obsolete dedifferentiated liposarcoma				
http://purl.obolibrary.org/obo/MONDO_0005243	obsolete Cushing syndrome				
http://purl.obolibrary.org/obo/MONDO_0005268	obsolete Hashimoto's thyroiditis				
http://purl.obolibrary.org/obo/MONDO_0005270	obsolete motor neuron disease				
http://purl.obolibrary.org/obo/MONDO_0005273	obsolete refractory anemia with excess blasts				
http://purl.obolibrary.org/obo/MONDO_0005330	obsolete angiosarcoma				
http://purl.obolibrary.org/obo/MONDO_0005331	obsolete acrocephalosyndactylia				
http://purl.obolibrary.org/obo/MONDO_0005337	obsolete neuropathy				
http://purl.obolibrary.org/obo/MONDO_0005368	obsolete obsessive-compulsive disorder				
http://purl.obolibrary.org/obo/MONDO_0005370	obsolete interstitial lung disease				
http://purl.obolibrary.org/obo/MONDO_0005378	obsolete neuromyelitis optica				
http://purl.obolibrary.org/obo/MONDO_0005389	obsolete sclerosing cholangitis				
http://purl.obolibrary.org/obo/MONDO_0005390	obsolete cardiac arrhythmia				
http://purl.obolibrary.org/obo/MONDO_0005400	obsolete ventricular fibrillation				
http://purl.obolibrary.org/obo/MONDO_0005415	obsolete acute lung injury				
http://purl.obolibrary.org/obo/MONDO_0005423	obsolete pelvic organ prolapse				
http://purl.obolibrary.org/obo/MONDO_0005428	obsolete pemphigus vulgaris				
http://purl.obolibrary.org/obo/MONDO_0005431	obsolete toxic epidermal necrolysis				
http://purl.obolibrary.org/obo/MONDO_0005444	obsolete leishmaniasis				
http://purl.obolibrary.org/obo/MONDO_0005450	obsolete autoimmune disease				
http://purl.obolibrary.org/obo/MONDO_0005455	obsolete cholangiocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0005456	obsolete avian influenza				
http://purl.obolibrary.org/obo/MONDO_0005458	obsolete q fever				
http://purl.obolibrary.org/obo/MONDO_0005521	obsolete shigellosis				
http://purl.obolibrary.org/obo/MONDO_0005540	obsolete rectal adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0005553	obsolete parathyroid disease				
http://purl.obolibrary.org/obo/MONDO_0005577	obsolete narcolepsy without cataplexy				
http://purl.obolibrary.org/obo/MONDO_0005600	obsolete ovarian adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0005604	obsolete plasma cell leukemia				
http://purl.obolibrary.org/obo/MONDO_0005612	obsolete ovarian leiomyosarcoma				
http://purl.obolibrary.org/obo/MONDO_0005622	obsolete vasculitis				
http://purl.obolibrary.org/obo/MONDO_0005633	obsolete acute disseminated encephalomyelitis				
http://purl.obolibrary.org/obo/MONDO_0005646	obsolete anisakiasis				
http://purl.obolibrary.org/obo/MONDO_0005726	obsolete cysticercosis				
http://purl.obolibrary.org/obo/MONDO_0005732	obsolete diphyllobothriasis				
http://purl.obolibrary.org/obo/MONDO_0005733	obsolete dirofilariasis				
http://purl.obolibrary.org/obo/MONDO_0005735	obsolete dracunculiasis				
http://purl.obolibrary.org/obo/MONDO_0005781	obsolete hantavirus pulmonary syndrome				
http://purl.obolibrary.org/obo/MONDO_0005782	obsolete HELLP syndrome				
http://purl.obolibrary.org/obo/MONDO_0005793	obsolete herpes simplex virus keratitis				
http://purl.obolibrary.org/obo/MONDO_0005795	obsolete histoplasmosis				
http://purl.obolibrary.org/obo/MONDO_0005816	obsolete Japanese encephalitis				
http://purl.obolibrary.org/obo/MONDO_0005818	obsolete Langerhans cell sarcoma				
http://purl.obolibrary.org/obo/MONDO_0005839	obsolete Marburg hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0005869	obsolete myiasis				
http://purl.obolibrary.org/obo/MONDO_0005877	obsolete nocardiosis				
http://purl.obolibrary.org/obo/MONDO_0005882	obsolete onchocerciasis				
http://purl.obolibrary.org/obo/MONDO_0005897	obsolete paratyphoid fever				
http://purl.obolibrary.org/obo/MONDO_0005924	obsolete pneumocystosis				
http://purl.obolibrary.org/obo/MONDO_0005931	obsolete progressive multifocal leukoencephalopathy				
http://purl.obolibrary.org/obo/MONDO_0005935	obsolete reactive arthritis				
http://purl.obolibrary.org/obo/MONDO_0005951	obsolete sarcocystosis				
http://purl.obolibrary.org/obo/MONDO_0005955	obsolete scrub typhus				
http://purl.obolibrary.org/obo/MONDO_0006017	obsolete western equine encephalitis				
http://purl.obolibrary.org/obo/MONDO_0006063	obsolete carbohydrate metabolic disorder				
http://purl.obolibrary.org/obo/MONDO_0006064	obsolete lactose intolerance				
http://purl.obolibrary.org/obo/MONDO_0006070	obsolete acute leukemia				
http://purl.obolibrary.org/obo/MONDO_0006080	obsolete ampulla of vater carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006100	obsolete Bartholin gland carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006110	obsolete bladder adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0006114	obsolete bladder squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006129	obsolete central nervous system lymphoma				
http://purl.obolibrary.org/obo/MONDO_0006148	obsolete chronic neutrophilic leukemia				
http://purl.obolibrary.org/obo/MONDO_0006175	obsolete craniopharyngioma				
http://purl.obolibrary.org/obo/MONDO_0006236	obsolete granular cell tumor of the neurohypophysis				
http://purl.obolibrary.org/obo/MONDO_0006240	obsolete hemangiopericytic neoplasm				
http://purl.obolibrary.org/obo/MONDO_0006242	obsolete hepatoblastoma				
http://purl.obolibrary.org/obo/MONDO_0006252	obsolete infiltrating bladder lymphoepithelioma-like carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006253	obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant				
http://purl.obolibrary.org/obo/MONDO_0006263	obsolete Langerhans cell histiocytosis				
http://purl.obolibrary.org/obo/MONDO_0006318	obsolete nevus of Ito				
http://purl.obolibrary.org/obo/MONDO_0006319	obsolete nevus of Ota				
http://purl.obolibrary.org/obo/MONDO_0006331	obsolete ovarian carcinosarcoma				
http://purl.obolibrary.org/obo/MONDO_0006332	obsolete ovarian choriocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0006334	obsolete ovarian embryonal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006341	obsolete ovarian small cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006342	obsolete ovarian squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006370	obsolete pineoblastoma				
http://purl.obolibrary.org/obo/MONDO_0006371	obsolete pineocytoma				
http://purl.obolibrary.org/obo/MONDO_0006434	obsolete Subependymoma				
http://purl.obolibrary.org/obo/MONDO_0006457	obsolete thymoma type AB				
http://purl.obolibrary.org/obo/MONDO_0006472	obsolete tracheal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006473	obsolete tracheal squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006492	obsolete vulvar squamous cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0006494	obsolete thyroid disease				
http://purl.obolibrary.org/obo/MONDO_0006511	obsolete developmental dysplasia of the hip				
http://purl.obolibrary.org/obo/MONDO_0006568	obsolete Kimura disease				
http://purl.obolibrary.org/obo/MONDO_0006575	obsolete loiasis				
http://purl.obolibrary.org/obo/MONDO_0006627	obsolete microscopic polyangiitis				
http://purl.obolibrary.org/obo/MONDO_0006724	obsolete desmoplastic small round cell tumor				
http://purl.obolibrary.org/obo/MONDO_0006750	obsolete Erdheim-Chester disease				
http://purl.obolibrary.org/obo/MONDO_0006756	obsolete extracutaneous mastocytoma				
http://purl.obolibrary.org/obo/MONDO_0006852	obsolete meningococcal meningitis				
http://purl.obolibrary.org/obo/MONDO_0006867	obsolete neovascular glaucoma				
http://purl.obolibrary.org/obo/MONDO_0006870	obsolete noma				
http://purl.obolibrary.org/obo/MONDO_0006902	obsolete periventricular leukomalacia				
http://purl.obolibrary.org/obo/MONDO_0006914	obsolete POEMS syndrome				
http://purl.obolibrary.org/obo/MONDO_0006942	obsolete reflex epilepsy				
http://purl.obolibrary.org/obo/MONDO_0006943	obsolete relapsing polychondritis				
http://purl.obolibrary.org/obo/MONDO_0006954	obsolete rheumatic fever				
http://purl.obolibrary.org/obo/MONDO_0006958	obsolete SAPHO syndrome				
http://purl.obolibrary.org/obo/MONDO_0006959	obsolete Schnitzler syndrome				
http://purl.obolibrary.org/obo/MONDO_0007010	obsolete uveitis				
http://purl.obolibrary.org/obo/MONDO_0007076	obsolete ocular albinism with sensorineural deafness				
http://purl.obolibrary.org/obo/MONDO_0007081	obsolete allergic bronchopulmonary aspergillosis				
http://purl.obolibrary.org/obo/MONDO_0007146	obsolete apnea, central sleep				
http://purl.obolibrary.org/obo/MONDO_0007196	obsolete bladder cancer				
http://purl.obolibrary.org/obo/MONDO_0007255	obsolete colorectal cancer				
http://purl.obolibrary.org/obo/MONDO_0007262	obsolete carcinoid syndrome				
http://purl.obolibrary.org/obo/MONDO_0007394	obsolete craniodiaphyseal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0007419	obsolete Darwinian tubercle of pinna				
http://purl.obolibrary.org/obo/MONDO_0007575	obsolete erythrokeratodermia variabilis				
http://purl.obolibrary.org/obo/MONDO_0007611	obsolete Zimmermann-Laband syndrome				
http://purl.obolibrary.org/obo/MONDO_0007703	obsolete heart, malformation of				
http://purl.obolibrary.org/obo/MONDO_0007786	obsolete hypertrichosis lanuginosa congenita				
http://purl.obolibrary.org/obo/MONDO_0007978	obsolete malignant mesothelioma				
http://purl.obolibrary.org/obo/MONDO_0008144	obsolete osteochondritis dissecans				
http://purl.obolibrary.org/obo/MONDO_0008413	obsolete schizophrenia				
http://purl.obolibrary.org/obo/MONDO_0008550	obsolete thoracolaryngopelvic dysplasia				
http://purl.obolibrary.org/obo/MONDO_0008631	obsolete renal agenesis				
http://purl.obolibrary.org/obo/MONDO_0008804	obsolete anus, imperforate				
http://purl.obolibrary.org/obo/MONDO_0008851	obsolete autism				
http://purl.obolibrary.org/obo/MONDO_0008987	obsolete cirrhosis, familial				
http://purl.obolibrary.org/obo/MONDO_0009023	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum				
http://purl.obolibrary.org/obo/MONDO_0009819	obsolete idiopathic juvenile osteoporosis				
http://purl.obolibrary.org/obo/MONDO_0009981	obsolete retinitis pigmentosa type 1				
http://purl.obolibrary.org/obo/MONDO_0009991	obsolete Rh deficiency syndrome				
http://purl.obolibrary.org/obo/MONDO_0010202	obsolete Wiskott-Aldrich syndrome				
http://purl.obolibrary.org/obo/MONDO_0010240	obsolete androgen insensitivity syndrome				
http://purl.obolibrary.org/obo/MONDO_0010345	obsolete ocular albinism				
http://purl.obolibrary.org/obo/MONDO_0010593	obsolete Frontometaphyseal dysplasia				
http://purl.obolibrary.org/obo/MONDO_0010616	obsolete hypogonadism, male				
http://purl.obolibrary.org/obo/MONDO_0010701	obsolete opticoacoustic nerve atrophy with dementia				
http://purl.obolibrary.org/obo/MONDO_0010724	obsolete RP6				
http://purl.obolibrary.org/obo/MONDO_0010934	obsolete DFNB5				
http://purl.obolibrary.org/obo/MONDO_0011328	obsolete autosomal dominant limb-girdle muscular dystrophy type 1E				
http://purl.obolibrary.org/obo/MONDO_0011447	obsolete epilepsy, familial focal, with variable foci				
http://purl.obolibrary.org/obo/MONDO_0011515	obsolete papillary renal cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0011665	obsolete Lennox-Gastaut syndrome				
http://purl.obolibrary.org/obo/MONDO_0011666	obsolete maturity-onset diabetes of the young				
http://purl.obolibrary.org/obo/MONDO_0012065	obsolete Stevens-Johnson syndrome				
http://purl.obolibrary.org/obo/MONDO_0012633	obsolete malaria				
http://purl.obolibrary.org/obo/MONDO_0014463	obsolete microcephaly, short stature, and impaired glucose metabolism				
http://purl.obolibrary.org/obo/MONDO_0014721	obsolete hereditary spherocytosis type 2				
http://purl.obolibrary.org/obo/MONDO_0015058	obsolete Waterhouse-Friderichsen syndrome				
http://purl.obolibrary.org/obo/MONDO_0015202	obsolete babesiosis				
http://purl.obolibrary.org/obo/MONDO_0015242	obsolete aspergillosis				
http://purl.obolibrary.org/obo/MONDO_0015251	obsolete balantidiasis				
http://purl.obolibrary.org/obo/MONDO_0015258	obsolete botulism				
http://purl.obolibrary.org/obo/MONDO_0015266	obsolete brucellosis				
http://purl.obolibrary.org/obo/MONDO_0015276	obsolete prostate cancer				
http://purl.obolibrary.org/obo/MONDO_0015287	obsolete vulvar intraepithelial neoplasia				
http://purl.obolibrary.org/obo/MONDO_0015309	obsolete Auriculocondylar syndrome				
http://purl.obolibrary.org/obo/MONDO_0015444	obsolete cleidocranial dysplasia				
http://purl.obolibrary.org/obo/MONDO_0015456	obsolete whooping cough				
http://purl.obolibrary.org/obo/MONDO_0015472	obsolete cryptococcosis				
http://purl.obolibrary.org/obo/MONDO_0015563	obsolete blue cone monochromatism				
http://purl.obolibrary.org/obo/MONDO_0015671	obsolete diphtheria				
http://purl.obolibrary.org/obo/MONDO_0015684	obsolete malignant peritoneal mesothelioma				
http://purl.obolibrary.org/obo/MONDO_0015693	obsolete composite lymphoma				
http://purl.obolibrary.org/obo/MONDO_0015747	obsolete Amish infantile epilepsy syndrome				
http://purl.obolibrary.org/obo/MONDO_0015754	obsolete cylindrical spirals myopathy				
http://purl.obolibrary.org/obo/MONDO_0015992	obsolete progressive cone dystrophy				
http://purl.obolibrary.org/obo/MONDO_0015996	obsolete systemic capillary leak syndrome				
http://purl.obolibrary.org/obo/MONDO_0016074	obsolete fibrosarcoma				
http://purl.obolibrary.org/obo/MONDO_0016084	obsolete Crigler-Najjar syndrome				
http://purl.obolibrary.org/obo/MONDO_0016119	obsolete mitochondrial myopathy				
http://purl.obolibrary.org/obo/MONDO_0016245	obsolete ovarian cancer				
http://purl.obolibrary.org/obo/MONDO_0016246	obsolete adenocarcinoma of ovary				
http://purl.obolibrary.org/obo/MONDO_0016265	obsolete endometrial stromal sarcoma				
http://purl.obolibrary.org/obo/MONDO_0016300	obsolete transposition of the great arteries				
http://purl.obolibrary.org/obo/MONDO_0016313	obsolete renal cell carcinoma				
http://purl.obolibrary.org/obo/MONDO_0016324	obsolete hypertrophic cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016339	obsolete restrictive cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016389	obsolete lymphoma				
http://purl.obolibrary.org/obo/MONDO_0016415	obsolete immunodeficiency-centromeric instability-facial anomalies syndrome				
http://purl.obolibrary.org/obo/MONDO_0016427	obsolete coccidioidomycosis				
http://purl.obolibrary.org/obo/MONDO_0016465	obsolete multiple intestinal atresia				
http://purl.obolibrary.org/obo/MONDO_0016519	obsolete keratosis follicularis spinulosa decalvans				
http://purl.obolibrary.org/obo/MONDO_0016585	obsolete mansonelliasis				
http://purl.obolibrary.org/obo/MONDO_0016590	obsolete collecting duct carcinoma				
http://purl.obolibrary.org/obo/MONDO_0016694	obsolete Pituicytoma				
http://purl.obolibrary.org/obo/MONDO_0016720	obsolete atypical papilloma of choroid plexus				
http://purl.obolibrary.org/obo/MONDO_0016728	obsolete cerebellar liponeurocytoma				
http://purl.obolibrary.org/obo/MONDO_0016732	obsolete dysembryoplastic neuroepithelial tumor				
http://purl.obolibrary.org/obo/MONDO_0016737	obsolete ganglioneuroma				
http://purl.obolibrary.org/obo/MONDO_0016813	obsolete microsporidiosis				
http://purl.obolibrary.org/obo/MONDO_0016926	obsolete Geleophysic dysplasia				
http://purl.obolibrary.org/obo/MONDO_0017115	obsolete bifid nose				
http://purl.obolibrary.org/obo/MONDO_0017208	obsolete intermediate uveitis				
http://purl.obolibrary.org/obo/MONDO_0017358	obsolete organic aciduria				
http://purl.obolibrary.org/obo/MONDO_0017367	obsolete kindler syndrome				
http://purl.obolibrary.org/obo/MONDO_0017374	obsolete polydactyly				
http://purl.obolibrary.org/obo/MONDO_0017702	obsolete glycerol kinase deficiency				
http://purl.obolibrary.org/obo/MONDO_0017751	obsolete Reye syndrome				
http://purl.obolibrary.org/obo/MONDO_0017777	obsolete rat-bite fever				
http://purl.obolibrary.org/obo/MONDO_0017796	obsolete ameloblastic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0017873	obsolete Ebola hemorrhagic fever				
http://purl.obolibrary.org/obo/MONDO_0017908	obsolete hyperekplexia				
http://purl.obolibrary.org/obo/MONDO_0017982	obsolete humeroradial synostosis				
http://purl.obolibrary.org/obo/MONDO_0018012	obsolete tetanus				
http://purl.obolibrary.org/obo/MONDO_0018057	obsolete toxocariasis				
http://purl.obolibrary.org/obo/MONDO_0018140	obsolete burning mouth syndrome				
http://purl.obolibrary.org/obo/MONDO_0018176	obsolete polymicrogyria				
http://purl.obolibrary.org/obo/MONDO_0018313	obsolete uveal melanoma				
http://purl.obolibrary.org/obo/MONDO_0018350	obsolete malignant tumor of penis				
http://purl.obolibrary.org/obo/MONDO_0018372	obsolete osteonecrosis				
http://purl.obolibrary.org/obo/MONDO_0018415	obsolete hymenolepiasis				
http://purl.obolibrary.org/obo/MONDO_0018478	obsolete primary hyperoxaluria				
http://purl.obolibrary.org/obo/MONDO_0018517	obsolete obsolete carcinoma of the anal canal				
http://purl.obolibrary.org/obo/MONDO_0018518	obsolete adenocarcinoma of the anal canal				
http://purl.obolibrary.org/obo/MONDO_0018519	obsolete squamous cell carcinoma of the anal canal				
http://purl.obolibrary.org/obo/MONDO_0018578	obsolete hypophosphatemic rickets				
http://purl.obolibrary.org/obo/MONDO_0018584	obsolete placental insufficiency				
http://purl.obolibrary.org/obo/MONDO_0018622	obsolete nut midline carcinoma				
http://purl.obolibrary.org/obo/MONDO_0018650	obsolete hemochromatosis type 5				
http://purl.obolibrary.org/obo/MONDO_0018693	obsolete kuru				
http://purl.obolibrary.org/obo/MONDO_0018704	obsolete actinomycosis				
http://purl.obolibrary.org/obo/MONDO_0018836	obsolete subcorneal pustular dermatosis				
http://purl.obolibrary.org/obo/MONDO_0018862	obsolete cat-scratch disease				
http://purl.obolibrary.org/obo/MONDO_0018863	obsolete leptospirosis				
http://purl.obolibrary.org/obo/MONDO_0018867	obsolete maple syrup urine disease				
http://purl.obolibrary.org/obo/MONDO_0018886	obsolete listeriosis				
http://purl.obolibrary.org/obo/MONDO_0018909	obsolete legionellosis				
http://purl.obolibrary.org/obo/MONDO_0018915	obsolete pneumococcal meningitis				
http://purl.obolibrary.org/obo/MONDO_0018917	obsolete Marfan syndrome				
http://purl.obolibrary.org/obo/MONDO_0018934	obsolete mucopolysaccharidosis type 1				
http://purl.obolibrary.org/obo/MONDO_0018966	obsolete isolated growth hormone deficiency				
http://purl.obolibrary.org/obo/MONDO_0018970	obsolete pemphigoid gestationis				
http://purl.obolibrary.org/obo/MONDO_0018985	obsolete trench fever				
http://purl.obolibrary.org/obo/MONDO_0018986	obsolete leiomyosarcoma				
http://purl.obolibrary.org/obo/MONDO_0018990	obsolete pulmonary blastoma				
http://purl.obolibrary.org/obo/MONDO_0019001	obsolete biotin-responsive basal ganglia disease				
http://purl.obolibrary.org/obo/MONDO_0019021	obsolete pigmented villonodular synovitis				
http://purl.obolibrary.org/obo/MONDO_0019030	obsolete Acanthamoeba keratitis				
http://purl.obolibrary.org/obo/MONDO_0019051	obsolete lysosomal disease				
http://purl.obolibrary.org/obo/MONDO_0019070	obsolete liposarcoma				
http://purl.obolibrary.org/obo/MONDO_0019081	obsolete alopecia universalis				
http://purl.obolibrary.org/obo/MONDO_0019090	obsolete meconium aspiration syndrome				
http://purl.obolibrary.org/obo/MONDO_0019106	obsolete disseminated peritoneal leiomyomatosis				
http://purl.obolibrary.org/obo/MONDO_0019135	obsolete paracoccidioidomycosis				
http://purl.obolibrary.org/obo/MONDO_0019163	obsolete pseudoxanthoma elasticum				
http://purl.obolibrary.org/obo/MONDO_0019166	obsolete strongyloidiasis				
http://purl.obolibrary.org/obo/MONDO_0019185	obsolete rhabdomyosarcoma				
http://purl.obolibrary.org/obo/MONDO_0019221	obsolete creatine deficiency syndrome				
http://purl.obolibrary.org/obo/MONDO_0019273	obsolete porokeratosis				
http://purl.obolibrary.org/obo/MONDO_0019343	obsolete mixed connective tissue disease				
http://purl.obolibrary.org/obo/MONDO_0019352	obsolete sporotrichosis				
http://purl.obolibrary.org/obo/MONDO_0019361	obsolete boutonneuse fever				
http://purl.obolibrary.org/obo/MONDO_0019363	obsolete murine typhus				
http://purl.obolibrary.org/obo/MONDO_0019379	obsolete st. Louis encephalitis				
http://purl.obolibrary.org/obo/MONDO_0019381	obsolete eastern equine encephalitis				
http://purl.obolibrary.org/obo/MONDO_0019382	obsolete Colorado tick fever				
http://purl.obolibrary.org/obo/MONDO_0019442	obsolete congenital toxoplasmosis				
http://purl.obolibrary.org/obo/MONDO_0019481	obsolete follicular dendritic cell sarcoma				
http://purl.obolibrary.org/obo/MONDO_0019492	obsolete desmoid tumor				
http://purl.obolibrary.org/obo/MONDO_0019539	obsolete retinopathy of prematurity				
http://purl.obolibrary.org/obo/MONDO_0019598	obsolete fragile X syndrome				
http://purl.obolibrary.org/obo/MONDO_0019812	obsolete tricuspid valve prolapse				
http://purl.obolibrary.org/obo/MONDO_0019842	obsolete pituitary apoplexy				
http://purl.obolibrary.org/obo/MONDO_0019850	obsolete precocious puberty				
http://purl.obolibrary.org/obo/MONDO_0019958	obsolete insulinoma				
http://purl.obolibrary.org/obo/MONDO_0019961	obsolete somatostatinoma				
http://purl.obolibrary.org/obo/MONDO_0019966	obsolete thoracic outlet syndrome				
http://purl.obolibrary.org/obo/MONDO_0019974	obsolete postencephalitic parkinsonism				
http://purl.obolibrary.org/obo/MONDO_0020085	obsolete mastocytosis				
http://purl.obolibrary.org/obo/MONDO_0020114	obsolete polycythemia				
http://purl.obolibrary.org/obo/MONDO_0020166	obsolete telecanthus				
http://purl.obolibrary.org/obo/MONDO_0020309	obsolete Landau-Kleffner syndrome				
http://purl.obolibrary.org/obo/MONDO_0020314	obsolete refractory anemia				
http://purl.obolibrary.org/obo/MONDO_0020319	obsolete acute myeloblastic leukemia without maturation				
http://purl.obolibrary.org/obo/MONDO_0020498	obsolete Lassa fever				
http://purl.obolibrary.org/obo/MONDO_0020514	obsolete thymoma				
http://purl.obolibrary.org/obo/MONDO_0020515	obsolete thymic carcinoma				
http://purl.obolibrary.org/obo/MONDO_0020564	obsolete well-differentiated liposarcoma				
http://purl.obolibrary.org/obo/MONDO_0020570	obsolete Brill-Zinsser disease				
http://purl.obolibrary.org/obo/MONDO_0021062	obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary				
http://purl.obolibrary.org/obo/MONDO_0021087	obsolete malignant granular cell myoblastoma				
http://purl.obolibrary.org/obo/GO_0062023	obsolete collagen-containing extracellular matrix				
http://purl.obolibrary.org/obo/MONDO_0024390	obsolete actinomycotic infectious disease				
http://purl.obolibrary.org/obo/MONDO_0200001	obsolete chromate resistance				
http://purl.obolibrary.org/obo/MONDO_0020999	obsolete genetic chronic primary adrenal insufficiency				
http://purl.obolibrary.org/obo/MONDO_0030965	obsolete olmsted syndrome 2				
http://purl.obolibrary.org/obo/MONDO_0100461	obsolete gastrointestinal defects and immunodeficiency syndrome				
http://purl.obolibrary.org/obo/MONDO_8000017	obsolete testicular regression syndrome				
http://purl.obolibrary.org/obo/MONDO_0100503	obsolete DPH5-related diphthamide-deficiency syndrome				
http://purl.obolibrary.org/obo/CL_2000082	obsolete melanocyte of foreskin				
http://purl.obolibrary.org/obo/UBERON_0035075	obsolete thymus subunit				
http://purl.obolibrary.org/obo/FOODON_03412846	obsolete: bacteria				
http://purl.obolibrary.org/obo/FOODON_03420165	obsolete: fruit or seed				
http://purl.obolibrary.org/obo/FOODON_03420310	obsolete: stamen				
http://purl.obolibrary.org/obo/HP_0040290	obsolete Abnormality of skeletal muscles				
http://purl.obolibrary.org/obo/MONDO_0022409	obsolete nephropathy-associated ciliopathy				
http://purl.obolibrary.org/obo/MONDO_0020755	obsolete heart block				
http://purl.obolibrary.org/obo/MONDO_0026782	obsolete chondrodysplasia punctata 2, X-linked dominant				
http://purl.obolibrary.org/obo/MONDO_0026856	obsolete homosexuality 1				
http://purl.obolibrary.org/obo/MONDO_0032576	obsolete MONDO:0032576				
http://purl.obolibrary.org/obo/MONDO_0032647	obsolete global developmental delay, lung cysts, overgrowth, and wilms tumor				
http://purl.obolibrary.org/obo/MONDO_0033196	obsolete skin/hair/eye pigmentation, variation in				
http://purl.obolibrary.org/obo/MONDO_0858986	obsolete autosomal dominant spastic paraplegia type 80				
http://purl.obolibrary.org/obo/MONDO_0858987	obsolete autosomal recessive spastic paraplegia type 82				
http://purl.obolibrary.org/obo/MONDO_0858988	obsolete autosomal recessive spastic paraplegia type 83				
http://purl.obolibrary.org/obo/MONDO_0858989	obsolete autosomal recessive spastic paraplegia type 84				
http://purl.obolibrary.org/obo/MONDO_0858990	obsolete autosomal recessive spastic paraplegia type 85				
http://purl.obolibrary.org/obo/MONDO_0858991	obsolete autosomal recessive spastic paraplegia type 86				
http://purl.obolibrary.org/obo/MONDO_0858992	obsolete autosomal recessive spastic paraplegia type 87				
http://purl.obolibrary.org/obo/MONDO_0859001	obsolete CPE-related Prader-Willi-like syndrome				
http://purl.obolibrary.org/obo/MONDO_0021720	obsolete fetal alcohol spectrum disorders				
http://purl.obolibrary.org/obo/MONDO_0020734	obsolete erythrocyte AMP deaminase deficiency				
http://purl.obolibrary.org/obo/MONDO_0034217	obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta				
http://purl.obolibrary.org/obo/MONDO_0026754	obsolete histidinuria-renal tubular defect syndrome				
http://purl.obolibrary.org/obo/MONDO_0027750	obsolete serpinopathy with toxic serpin polymerization				
http://purl.obolibrary.org/obo/MONDO_0027751	obsolete serpinopathy with loss of serpin function				
http://purl.obolibrary.org/obo/MONDO_0033187	obsolete combined oxidative phosphorylation defect type 29				
http://purl.obolibrary.org/obo/MONDO_0033939	obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome				
http://purl.obolibrary.org/obo/MONDO_0033947	obsolete hereditary angioedema with normal C1Inh				
http://purl.obolibrary.org/obo/MONDO_0033967	obsolete immune dysregulation with inflammatory bowel disease				
http://purl.obolibrary.org/obo/MONDO_0033981	obsolete krt1-related diffuse nonepidermolytic keratoderma				
http://purl.obolibrary.org/obo/MONDO_0034082	obsolete necrobiosis lipoidica				
http://purl.obolibrary.org/obo/MONDO_0034099	obsolete SYNGAP1-related developmental and epileptic encephalopathy				
http://purl.obolibrary.org/obo/MONDO_0034104	obsolete global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome				
http://purl.obolibrary.org/obo/MONDO_0034122	obsolete NAD(P)HX epimerase deficiency				
http://purl.obolibrary.org/obo/MONDO_0034147	obsolete neonatal epileptic encephalopathy due to glutaminase deficiency				
http://purl.obolibrary.org/obo/MONDO_0034186	obsolete autosomal recessive extra-oral halitosis				
http://purl.obolibrary.org/obo/MONDO_0000714	obsolete crest syndrome				
http://purl.obolibrary.org/obo/MONDO_0000052	obsolete leukodystrophy, hypomyelinating				
http://purl.obolibrary.org/obo/MONDO_0005228	obsolete anaplastic large cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0005245	obsolete testicular seminoma				
http://purl.obolibrary.org/obo/MONDO_0006171	obsolete conjunctival melanoma				
http://purl.obolibrary.org/obo/MONDO_0006205	obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor				
http://purl.obolibrary.org/obo/MONDO_0006259	obsolete juvenile xanthogranuloma				
http://purl.obolibrary.org/obo/MONDO_0006384	obsolete primary effusion lymphoma				
http://purl.obolibrary.org/obo/MONDO_0006415	obsolete small intestinal adenocarcinoma				
http://purl.obolibrary.org/obo/MONDO_0006431	obsolete splenic marginal zone lymphoma				
http://purl.obolibrary.org/obo/MONDO_0006437	obsolete superficial fibromatosis				
http://purl.obolibrary.org/obo/MONDO_0006449	obsolete testicular yolk sac tumor				
http://purl.obolibrary.org/obo/MONDO_0006503	obsolete episodic ataxia				
http://purl.obolibrary.org/obo/MONDO_0006508	obsolete infantile epileptic encephalopathy				
http://purl.obolibrary.org/obo/MONDO_0007061	obsolete acylase, cobalt-activated				
http://purl.obolibrary.org/obo/MONDO_0007117	obsolete angioedema, hereditary, type 1/2				
http://purl.obolibrary.org/obo/MONDO_0007139	obsolete Antipyrine metabolism				
http://purl.obolibrary.org/obo/MONDO_0007141	obsolete antiviral state repressor, regulator of				
http://purl.obolibrary.org/obo/MONDO_0007149	obsolete arbitrary restriction polymorphism 1				
http://purl.obolibrary.org/obo/MONDO_0007189	obsolete B-cell growth factor				
http://purl.obolibrary.org/obo/MONDO_0007299	obsolete Sotos syndrome 1				
http://purl.obolibrary.org/obo/MONDO_0007317	obsolete chlorpropamide-alcohol flushing				
http://purl.obolibrary.org/obo/MONDO_0007331	obsolete cleft chin				
http://purl.obolibrary.org/obo/MONDO_0007347	obsolete Coxsackievirus B3 susceptibility				
http://purl.obolibrary.org/obo/MONDO_0007348	obsolete colchicine resistance				
http://purl.obolibrary.org/obo/MONDO_0007386	obsolete human coronavirus sensitivity				
http://purl.obolibrary.org/obo/MONDO_0015078	obsolete gastroenteropancreatic neuroendocrine neoplasm				
http://purl.obolibrary.org/obo/MONDO_0015118	obsolete rare pulmonary disease				
http://purl.obolibrary.org/obo/MONDO_0015119	obsolete bronchopulmonary tumor				
http://purl.obolibrary.org/obo/MONDO_0015120	obsolete rare acquired eye disease				
http://purl.obolibrary.org/obo/MONDO_0015145	obsolete neurovascular malformation				
http://purl.obolibrary.org/obo/MONDO_0015155	obsolete spotted fever rickettsiosis				
http://purl.obolibrary.org/obo/MONDO_0015214	obsolete syndromic visceral malformation				
http://purl.obolibrary.org/obo/MONDO_0015322	obsolete Pierre Robin syndrome associated with bone disease				
http://purl.obolibrary.org/obo/MONDO_0015331	obsolete malformation syndrome with skin/mucosae involvement				
http://purl.obolibrary.org/obo/MONDO_0015335	obsolete Mendelian syndromes with cleft lip/palate				
http://purl.obolibrary.org/obo/MONDO_0015368	obsolete neuro-ophthalmological disease				
http://purl.obolibrary.org/obo/MONDO_0015385	obsolete external auditory canal aplasia/hypoplasia				
http://purl.obolibrary.org/obo/MONDO_0015470	obsolete familial isolated dilated cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0015488	obsolete predominantly large-vessel vasculitis				
http://purl.obolibrary.org/obo/MONDO_0015495	obsolete otomandibular dysplasia associated with monogenic syndromes				
http://purl.obolibrary.org/obo/MONDO_0015501	obsolete syndrome or malformation associated with head and neck malformations				
http://purl.obolibrary.org/obo/MONDO_0015506	obsolete rare syndrome with cardiac malformations				
http://purl.obolibrary.org/obo/MONDO_0015511	obsolete rare genetic urogenital disease				
http://purl.obolibrary.org/obo/MONDO_0015603	obsolete rare odontal or periodontal disorder				
http://purl.obolibrary.org/obo/MONDO_0015652	obsolete chromosomal anomaly with epilepsy as a major feature				
http://purl.obolibrary.org/obo/MONDO_0015657	obsolete inflammatory and autoimmune disease with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0015658	obsolete cerebral diseases of vascular origin with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0015659	obsolete infectious disease with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0015682	obsolete primary peritoneal tumor				
http://purl.obolibrary.org/obo/MONDO_0015765	obsolete congenital myopathy with cores				
http://purl.obolibrary.org/obo/MONDO_0015818	obsolete aggressive primary cutaneous B-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0015852	obsolete excess breast volume or number				
http://purl.obolibrary.org/obo/MONDO_0015876	obsolete rare vulvovaginal tumor				
http://purl.obolibrary.org/obo/MONDO_0015878	obsolete rare disease with autism				
http://purl.obolibrary.org/obo/MONDO_0015879	obsolete non-syndromic diaphragmatic or thoracic malformation				
http://purl.obolibrary.org/obo/MONDO_0015890	obsolete rare disorder with congenital hypogonadotropic hypogonadism				
http://purl.obolibrary.org/obo/MONDO_0015919	obsolete syndromic neurometabolic disease with non-X-linked intellectual disability				
http://purl.obolibrary.org/obo/MONDO_0015928	obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease				
http://purl.obolibrary.org/obo/MONDO_0015946	obsolete rare genetic epidermal disorder				
http://purl.obolibrary.org/obo/MONDO_0015948	obsolete rare genetic skin vascular disorder				
http://purl.obolibrary.org/obo/MONDO_0015949	obsolete rare genetic subcutaneous tissue disorder				
http://purl.obolibrary.org/obo/MONDO_0015950	obsolete inherited skin tumor				
http://purl.obolibrary.org/obo/MONDO_0015953	obsolete genetic central nervous system and retinal vascular disease				
http://purl.obolibrary.org/obo/MONDO_0015959	obsolete inherited syndrome with bone tumors as a major feature				
http://purl.obolibrary.org/obo/MONDO_0015960	obsolete rare genetic developmental defect during embryogenesis				
http://purl.obolibrary.org/obo/MONDO_0016023	obsolete ocular coloboma				
http://purl.obolibrary.org/obo/MONDO_0016123	obsolete muscular tumor				
http://purl.obolibrary.org/obo/MONDO_0016134	obsolete rare hereditary systemic disease with peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016177	obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016180	obsolete hematological disease associated with an acquired peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016232	obsolete rare venous malformation				
http://purl.obolibrary.org/obo/MONDO_0016253	obsolete rare cancer of corpus uteri				
http://purl.obolibrary.org/obo/MONDO_0016436	obsolete acquired dermis elastic tissue disorder with increased elastic tissue				
http://purl.obolibrary.org/obo/MONDO_0016726	obsolete neuronal tumor				
http://purl.obolibrary.org/obo/MONDO_0016756	obsolete inherited nervous system cancer-predisposing syndrome				
http://purl.obolibrary.org/obo/MONDO_0016784	obsolete gestational trophoblastic disease				
http://purl.obolibrary.org/obo/MONDO_0016998	obsolete complex chromosomal rearrangement				
http://purl.obolibrary.org/obo/MONDO_0017001	obsolete X chromosome number anomaly with male phenotype				
http://purl.obolibrary.org/obo/MONDO_0017085	obsolete malformation of the neurenteric canal, spinal cord and column				
http://purl.obolibrary.org/obo/MONDO_0017120	obsolete other syndrome with a central nervous system malformation as major feature				
http://purl.obolibrary.org/obo/MONDO_0017131	obsolete hereditary cardiac anomaly				
http://purl.obolibrary.org/obo/MONDO_0017132	obsolete hereditary ATTR amyloidosis				
http://purl.obolibrary.org/obo/MONDO_0017133	obsolete genetic systemic or rheumatologic disease				
http://purl.obolibrary.org/obo/MONDO_0017240	obsolete acrodysostosis with multiple hormone resistance				
http://purl.obolibrary.org/obo/MONDO_0017259	obsolete systemic diseases with anterior uveitis				
http://purl.obolibrary.org/obo/MONDO_0017260	obsolete systemic diseases with posterior uveitis				
http://purl.obolibrary.org/obo/MONDO_0017261	obsolete systemic diseases with panuveitis				
http://purl.obolibrary.org/obo/MONDO_0017311	obsolete rare disease with thoracic aortic aneurysm and aortic dissection				
http://purl.obolibrary.org/obo/MONDO_0017369	obsolete autoinflammatory syndrome with immune deficiency				
http://purl.obolibrary.org/obo/MONDO_0017370	obsolete autoinflammatory syndrome with skin involvement				
http://purl.obolibrary.org/obo/MONDO_0017428	obsolete congenital deformities of fingers				
http://purl.obolibrary.org/obo/MONDO_0017429	obsolete joint formation defects				
http://purl.obolibrary.org/obo/MONDO_0017432	obsolete syndrome with limb reduction defects				
http://purl.obolibrary.org/obo/MONDO_0017433	obsolete dysostosis with combined reduction defects of upper and lower limbs				
http://purl.obolibrary.org/obo/MONDO_0017434	obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy				
http://purl.obolibrary.org/obo/MONDO_0017448	obsolete congenital absence/hypoplasia of fingers excluding thumb				
http://purl.obolibrary.org/obo/MONDO_0017641	obsolete miscellaneous movement disorder due to neurodegenerative disease				
http://purl.obolibrary.org/obo/MONDO_0017646	obsolete neurodegenerative disease with chorea				
http://purl.obolibrary.org/obo/MONDO_0017676	obsolete marginal papular palmoplantar keratoderma				
http://purl.obolibrary.org/obo/MONDO_0017742	obsolete disorder of O-xylosylglycan synthesis				
http://purl.obolibrary.org/obo/MONDO_0017760	obsolete disorder of other vitamins and cofactors metabolism and transport				
http://purl.obolibrary.org/obo/MONDO_0017957	obsolete unclassified autoinflammatory syndrome				
http://purl.obolibrary.org/obo/MONDO_0017978	obsolete syndrome with disorder of sex development of gynecological interest				
http://purl.obolibrary.org/obo/MONDO_0018232	obsolete primary bone dysplasia with micromelia				
http://purl.obolibrary.org/obo/MONDO_0018292	obsolete congenital disorder of glycosylation-related bone disorder				
http://purl.obolibrary.org/obo/MONDO_0018396	obsolete rare male fertility disorder with obstructive azoospermia				
http://purl.obolibrary.org/obo/MONDO_0018401	obsolete female infertility due to an anomaly of ovarian function				
http://purl.obolibrary.org/obo/MONDO_0018413	obsolete female infertility due to an anomaly of ovarian function of genetic origin				
http://purl.obolibrary.org/obo/MONDO_0018455	obsolete dysostosis of genetic origin with limb anomaly as a major feature				
http://purl.obolibrary.org/obo/MONDO_0018488	obsolete rare genetic odontal or periodontal disorder				
http://purl.obolibrary.org/obo/MONDO_0018699	obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy				
http://purl.obolibrary.org/obo/MONDO_0018727	obsolete immunodeficiency due to a complement regulatory deficiency				
http://purl.obolibrary.org/obo/MONDO_0018787	obsolete genetic cerebral small vessel disease				
http://purl.obolibrary.org/obo/MONDO_0018798	obsolete other genetic dermis disorder				
http://purl.obolibrary.org/obo/MONDO_0018888	obsolete congenital cornea plana				
http://purl.obolibrary.org/obo/MONDO_0019043	obsolete rare genetic skin disease				
http://purl.obolibrary.org/obo/MONDO_0019271	obsolete acrokeratoderma				
http://purl.obolibrary.org/obo/MONDO_0019292	obsolete dermis elastic tissue disorder				
http://purl.obolibrary.org/obo/MONDO_0019295	obsolete other dermis disorder				
http://purl.obolibrary.org/obo/MONDO_0019300	obsolete rare skin tumor or hamartoma				
http://purl.obolibrary.org/obo/MONDO_0019546	obsolete other acquired skin disease				
http://purl.obolibrary.org/obo/MONDO_0019589	obsolete syndromic genetic hearing loss				
http://purl.obolibrary.org/obo/MONDO_0019686	obsolete type 2 collagen-related bone disorder				
http://purl.obolibrary.org/obo/MONDO_0019697	obsolete mesomelic and rhizo-mesomelic dysplasia				
http://purl.obolibrary.org/obo/MONDO_0019700	obsolete primary bone dysplasia with multiple joint dislocations				
http://purl.obolibrary.org/obo/MONDO_0019703	obsolete primary bone dysplasia with increased bone density				
http://purl.obolibrary.org/obo/MONDO_0019708	obsolete primary bone dysplasia with disorganized development of skeletal components				
http://purl.obolibrary.org/obo/MONDO_0019709	obsolete cleidocranial dysplasia and isolated cranial ossification defect				
http://purl.obolibrary.org/obo/MONDO_0019710	obsolete dysostosis with predominant craniofacial involvement				
http://purl.obolibrary.org/obo/MONDO_0019711	obsolete dysostosis with predominant vertebral and costal involvement				
http://purl.obolibrary.org/obo/MONDO_0019715	obsolete syndrome with synostosis or other joint formation defect				
http://purl.obolibrary.org/obo/MONDO_0019798	obsolete acute hepatic porphyria				
http://purl.obolibrary.org/obo/MONDO_0020002	obsolete rare surgical thoracic disease				
http://purl.obolibrary.org/obo/MONDO_0020006	obsolete rare hematologic disease				
http://purl.obolibrary.org/obo/MONDO_0020014	obsolete rare disease with odontological manifestation				
http://purl.obolibrary.org/obo/MONDO_0020016	obsolete rare neurologic disease with psychiatric involvement				
http://purl.obolibrary.org/obo/MONDO_0020018	obsolete cranial malformation				
http://purl.obolibrary.org/obo/MONDO_0020042	obsolete syndrome with 46,XY disorder of sex development				
http://purl.obolibrary.org/obo/MONDO_0020063	obsolete malformation syndrome with hamartosis				
http://purl.obolibrary.org/obo/MONDO_0020079	obsolete plasma cell tumor				
http://purl.obolibrary.org/obo/MONDO_0020090	obsolete male infertility due to gonadal dysgenesis				
http://purl.obolibrary.org/obo/MONDO_0020136	obsolete neurodegenerative disease with dementia				
http://purl.obolibrary.org/obo/MONDO_0020144	obsolete cerebrovascular dementia				
http://purl.obolibrary.org/obo/MONDO_0020149	obsolete rare eye disease due to a differentiation anomaly				
http://purl.obolibrary.org/obo/MONDO_0020156	obsolete syndromic ankyloblepharon				
http://purl.obolibrary.org/obo/MONDO_0020169	obsolete rare disorder with ptosis				
http://purl.obolibrary.org/obo/MONDO_0020175	obsolete malignant tumor of palpebral epidermis				
http://purl.obolibrary.org/obo/MONDO_0020197	obsolete EEC syndrome and related syndrome				
http://purl.obolibrary.org/obo/MONDO_0020222	obsolete rare disease with glaucoma as a major feature				
http://purl.obolibrary.org/obo/MONDO_0020243	obsolete colobomatous and areolar dystrophy				
http://purl.obolibrary.org/obo/MONDO_0020253	obsolete syndrome with a symptomatic strabismus				
http://purl.obolibrary.org/obo/MONDO_0020254	obsolete craniostenosis associated with a strabismus				
http://purl.obolibrary.org/obo/MONDO_0020276	obsolete pigmentation disorder with eye involvement, excluding albinism				
http://purl.obolibrary.org/obo/MONDO_0020286	obsolete aortic malformation				
http://purl.obolibrary.org/obo/MONDO_0020294	obsolete atrial defect and interatrial communication				
http://purl.obolibrary.org/obo/MONDO_0020375	obsolete coralliform cataract				
http://purl.obolibrary.org/obo/MONDO_0013494	obsolete PSMNSW				
http://purl.obolibrary.org/obo/MONDO_0013524	obsolete bleeding diathesis due to thromboxane synthesis deficiency				
http://purl.obolibrary.org/obo/MONDO_0013586	obsolete Chitotriosidase deficiency				
http://purl.obolibrary.org/obo/MONDO_0013617	obsolete overgrowth-macrocephaly-facial dysmorphism syndrome				
http://purl.obolibrary.org/obo/MONDO_0013647	obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome				
http://purl.obolibrary.org/obo/MONDO_0013701	obsolete MRT32				
http://purl.obolibrary.org/obo/MONDO_0013733	obsolete accelerated tumor formation, susceptibility to				
http://purl.obolibrary.org/obo/MONDO_0013736	obsolete myopathy, centronuclear, 3				
http://purl.obolibrary.org/obo/MONDO_0013742	obsolete familial mesial temporal lobe epilepsy with febrile seizures				
http://purl.obolibrary.org/obo/MONDO_0013799	obsolete efavirenz, poor metabolism of				
http://purl.obolibrary.org/obo/MONDO_0013804	obsolete intellectual disability, autosomal dominant 12				
http://purl.obolibrary.org/obo/MONDO_0013809	obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome				
http://purl.obolibrary.org/obo/MONDO_0013816	obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques				
http://purl.obolibrary.org/obo/MONDO_0013850	obsolete periodic fever, menstrual cycle-dependent				
http://purl.obolibrary.org/obo/MONDO_0013958	obsolete monocyte and dendritic cell deficiency, autosomal recessive				
http://purl.obolibrary.org/obo/MONDO_0014053	obsolete stomatin-like protein-2, hyperphosphorylation of				
http://purl.obolibrary.org/obo/MONDO_0014188	obsolete MONDO:0014188				
http://purl.obolibrary.org/obo/MONDO_0014279	obsolete arrhythmogenic right ventricular dysplasia, familial, 13				
http://purl.obolibrary.org/obo/MONDO_0014315	obsolete Mitchell-Riley syndrome				
http://purl.obolibrary.org/obo/MONDO_0014330	obsolete eculizumab, poor response to				
http://purl.obolibrary.org/obo/MONDO_0014554	obsolete infantile multisystem neurologic-endocrine-pancreatic disease				
http://purl.obolibrary.org/obo/MONDO_0014616	obsolete Skint1-like pseudogene				
http://purl.obolibrary.org/obo/MONDO_0014655	obsolete Bethlem myopathy 2				
http://purl.obolibrary.org/obo/MONDO_0014695	obsolete glioma susceptibility 9				
http://purl.obolibrary.org/obo/MONDO_0014709	obsolete Heimler syndrome 2				
http://purl.obolibrary.org/obo/MONDO_0014761	obsolete hereditary pediatric Behçet-like disease				
http://purl.obolibrary.org/obo/MONDO_0014763	obsolete Bombay phenotype				
http://purl.obolibrary.org/obo/MONDO_0014812	obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration				
http://purl.obolibrary.org/obo/MONDO_0014824	obsolete craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome				
http://purl.obolibrary.org/obo/MONDO_0014826	obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency				
http://purl.obolibrary.org/obo/MONDO_0014834	obsolete dyskinesia, limb and orofacial, infantile-onset				
http://purl.obolibrary.org/obo/MONDO_0014852	obsolete palmoplantar carcinoma, multiple self-healing				
http://purl.obolibrary.org/obo/MONDO_0014879	obsolete patent ductus arteriosus 3				
http://purl.obolibrary.org/obo/MONDO_0014897	obsolete portal hypertension, noncirrhotic				
http://purl.obolibrary.org/obo/MONDO_0014913	obsolete MONDO:0014913				
http://purl.obolibrary.org/obo/MONDO_0014964	obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum				
http://purl.obolibrary.org/obo/MONDO_0014978	obsolete preimplantation embryonic lethality 2				
http://purl.obolibrary.org/obo/MONDO_0014988	obsolete 3-methylglutaconic aciduria, type VIII				
http://purl.obolibrary.org/obo/MONDO_0015080	obsolete thymic tumor				
http://purl.obolibrary.org/obo/MONDO_0015081	obsolete neuroendocrine tumor with other location				
http://purl.obolibrary.org/obo/MONDO_0015098	obsolete situs inversus totalis				
http://purl.obolibrary.org/obo/MONDO_0015105	obsolete African tick typhus				
http://purl.obolibrary.org/obo/MONDO_0015132	obsolete immunodeficiency predominantly affecting antibody production				
http://purl.obolibrary.org/obo/MONDO_0015135	obsolete primary immunodeficiency due to a genetic defect in innate immunity				
http://purl.obolibrary.org/obo/MONDO_0015136	obsolete immunodeficiency due to a genetic complement cascade protein anomaly				
http://purl.obolibrary.org/obo/MONDO_0015138	obsolete rare genetic primary immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0015142	obsolete ataxia syndrome				
http://purl.obolibrary.org/obo/MONDO_0015153	obsolete autosomal monosomy				
http://purl.obolibrary.org/obo/MONDO_0015154	obsolete rickettsial disease				
http://purl.obolibrary.org/obo/MONDO_0015173	obsolete autoimmune enteropathy type 2				
http://purl.obolibrary.org/obo/MONDO_0015190	obsolete leiomyosarcoma of small intestine				
http://purl.obolibrary.org/obo/MONDO_0015192	obsolete unclassified intestinal pseudoobstruction				
http://purl.obolibrary.org/obo/MONDO_0015220	obsolete syndrome with a central nervous system malformation as major feature				
http://purl.obolibrary.org/obo/MONDO_0015238	obsolete arrhinia-choanal atresia-microphthalmia syndrome				
http://purl.obolibrary.org/obo/MONDO_0015297	obsolete microcephaly-digital anomalies-intellectual disability syndrome				
http://purl.obolibrary.org/obo/MONDO_0015320	obsolete Pierre Robin syndrome associated with a chromosomal anomaly				
http://purl.obolibrary.org/obo/MONDO_0015330	obsolete overgrowth/obesity syndrome				
http://purl.obolibrary.org/obo/MONDO_0015398	obsolete hemifacial microsomia				
http://purl.obolibrary.org/obo/MONDO_0015429	obsolete choroideremia-hypopituitarism syndrome				
http://purl.obolibrary.org/obo/MONDO_0015475	obsolete rare head and neck malformation				
http://purl.obolibrary.org/obo/MONDO_0015478	obsolete paramedian facial cleft				
http://purl.obolibrary.org/obo/MONDO_0015482	obsolete otomandibular dysplasia				
http://purl.obolibrary.org/obo/MONDO_0015485	obsolete primary hereditary glaucoma				
http://purl.obolibrary.org/obo/MONDO_0015522	obsolete situs ambiguus				
http://purl.obolibrary.org/obo/MONDO_0015543	obsolete hemophagocytic syndrome associated with an infection				
http://purl.obolibrary.org/obo/MONDO_0015560	obsolete classic mast cell leukemia				
http://purl.obolibrary.org/obo/MONDO_0015561	obsolete aleukemic mast cell leukemia				
http://purl.obolibrary.org/obo/MONDO_0015591	obsolete limbic encephalitis associated with antibodies to cell membrane antigens				
http://purl.obolibrary.org/obo/MONDO_0015593	obsolete limbic encephalitis with nCMAgs antibodies				
http://purl.obolibrary.org/obo/MONDO_0015594	obsolete non-paraneoplastic limbic encephalitis				
http://purl.obolibrary.org/obo/MONDO_0015598	obsolete acrodermatitis continua suppurativa of Hallopeau				
http://purl.obolibrary.org/obo/MONDO_0015602	obsolete developmental delay-deafness syndrome, Hildebrand type				
http://purl.obolibrary.org/obo/MONDO_0015615	obsolete rare genetic gastroenterological disease				
http://purl.obolibrary.org/obo/MONDO_0015633	obsolete Bazex syndrome				
http://purl.obolibrary.org/obo/MONDO_0015654	obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes				
http://purl.obolibrary.org/obo/MONDO_0015656	obsolete metabolic disease with epilepsy				
http://purl.obolibrary.org/obo/MONDO_0015662	obsolete hemorrhagic disorder due to an acquired coagulation factor defect				
http://purl.obolibrary.org/obo/MONDO_0015670	obsolete cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0015683	obsolete primary malignant peritoneal tumor				
http://purl.obolibrary.org/obo/MONDO_0015685	obsolete peritoneal cystic mesothelioma				
http://purl.obolibrary.org/obo/MONDO_0015711	obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells				
http://purl.obolibrary.org/obo/MONDO_0015750	obsolete amelogenesis imperfecta-gingival hyperplasia syndrome				
http://purl.obolibrary.org/obo/MONDO_0015815	obsolete primary cutaneous diffuse large B-cell lymphoma, leg type				
http://purl.obolibrary.org/obo/MONDO_0015817	obsolete aggressive primary cutaneous T-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0015823	obsolete primary immunodeficiency due to a defect in adaptive immunity				
http://purl.obolibrary.org/obo/MONDO_0015828	obsolete uterovaginal malformation				
http://purl.obolibrary.org/obo/MONDO_0015837	obsolete Unicervical bicornuate uterus				
http://purl.obolibrary.org/obo/MONDO_0015847	obsolete rare vaginal malformation				
http://purl.obolibrary.org/obo/MONDO_0015848	obsolete septate vagina				
http://purl.obolibrary.org/obo/MONDO_0015851	obsolete rare breast malformation				
http://purl.obolibrary.org/obo/MONDO_0015857	obsolete rare non-malformative gynecologic or obstetric disease				
http://purl.obolibrary.org/obo/MONDO_0015858	obsolete rare non-malformative breast disease				
http://purl.obolibrary.org/obo/MONDO_0015859	obsolete rare non-malformative uterovaginal or vulvovaginal disease				
http://purl.obolibrary.org/obo/MONDO_0015860	obsolete anomaly of puberty or/and menstrual cycle				
http://purl.obolibrary.org/obo/MONDO_0015861	obsolete rare uterine adnexal tumor				
http://purl.obolibrary.org/obo/MONDO_0015862	obsolete embryonal carcinoma				
http://purl.obolibrary.org/obo/MONDO_0015865	obsolete benign tumor of fallopian tubes				
http://purl.obolibrary.org/obo/MONDO_0015866	obsolete malignant tumor of fallopian tubes				
http://purl.obolibrary.org/obo/MONDO_0015872	obsolete giant adenofibroma of the breast				
http://purl.obolibrary.org/obo/MONDO_0015889	obsolete rare hypothalamic or pituitary disease				
http://purl.obolibrary.org/obo/MONDO_0015901	obsolete rare inherited hyperlipidemia				
http://purl.obolibrary.org/obo/MONDO_0015904	obsolete rare hypolipidemia				
http://purl.obolibrary.org/obo/MONDO_0015913	obsolete rare thrombotic disease of hematologic origin				
http://purl.obolibrary.org/obo/MONDO_0015915	obsolete cerebellar malformation				
http://purl.obolibrary.org/obo/MONDO_0015934	obsolete non-syndromic urogenital tract malformation of male and female				
http://purl.obolibrary.org/obo/MONDO_0015937	obsolete rare inflammatory eye disease				
http://purl.obolibrary.org/obo/MONDO_0015954	obsolete rare genetic headache disorder				
http://purl.obolibrary.org/obo/MONDO_0015963	obsolete inherited renal tumor				
http://purl.obolibrary.org/obo/MONDO_0015964	obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease				
http://purl.obolibrary.org/obo/MONDO_0015965	obsolete rare genetic refraction anomaly				
http://purl.obolibrary.org/obo/MONDO_0015968	obsolete rare genetic hypothalamic or pituitary disease				
http://purl.obolibrary.org/obo/MONDO_0015981	obsolete inherited gynecological tumor				
http://purl.obolibrary.org/obo/MONDO_0016025	obsolete myoclonic-astatic epilepsy				
http://purl.obolibrary.org/obo/MONDO_0016050	obsolete thiamine-responsive encephalopathy				
http://purl.obolibrary.org/obo/MONDO_0016054	obsolete cerebral malformation				
http://purl.obolibrary.org/obo/MONDO_0016076	obsolete lymphatic filariasis				
http://purl.obolibrary.org/obo/MONDO_0016082	obsolete tracheo-esophageal fistula-hypospadias syndrome				
http://purl.obolibrary.org/obo/MONDO_0016124	obsolete drug and/or toxic myopathy				
http://purl.obolibrary.org/obo/MONDO_0016125	obsolete infectious, fungal or parasitic myopathy				
http://purl.obolibrary.org/obo/MONDO_0016135	obsolete rare hereditary neurologic disease with peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016137	obsolete acute and subacute inflammatory demyelinating polyneuropathy				
http://purl.obolibrary.org/obo/MONDO_0016173	obsolete non-paraneoplastic sensory ganglionopathy				
http://purl.obolibrary.org/obo/MONDO_0016174	obsolete paraneoplastic sensory ganglionopathy				
http://purl.obolibrary.org/obo/MONDO_0016178	obsolete peripheral neuropathy associated with monoclonal gammopathy				
http://purl.obolibrary.org/obo/MONDO_0016179	obsolete acquired amyloid peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016181	obsolete solid tumor associated with an acquired peripheral neuropathy				
http://purl.obolibrary.org/obo/MONDO_0016183	obsolete qualitative or quantitative defects of protein glycosyltransferase-like				
http://purl.obolibrary.org/obo/MONDO_0016212	obsolete cyclosporosis				
http://purl.obolibrary.org/obo/MONDO_0016221	obsolete temporomandibular joint anomaly				
http://purl.obolibrary.org/obo/MONDO_0016230	obsolete simple vascular malformation				
http://purl.obolibrary.org/obo/MONDO_0016233	obsolete rare lymphatic system malformation				
http://purl.obolibrary.org/obo/MONDO_0016254	obsolete rare variants of adenocarcinoma of the corpus uteri				
http://purl.obolibrary.org/obo/MONDO_0016257	obsolete adenosarcoma of the corpus uteri				
http://purl.obolibrary.org/obo/MONDO_0016261	obsolete sarcoma of the corpus uteri				
http://purl.obolibrary.org/obo/MONDO_0016275	obsolete adenocarcinoma of cervix uteri				
http://purl.obolibrary.org/obo/MONDO_0016286	obsolete adenoid cystic carcinoma of the cervix uteri				
http://purl.obolibrary.org/obo/MONDO_0016287	obsolete adenoid basal carcinoma of the cervix uteri				
http://purl.obolibrary.org/obo/MONDO_0016288	obsolete glassy cell carcinoma of the cervix uteri				
http://purl.obolibrary.org/obo/MONDO_0016317	obsolete limbic encephalitis with NMDA receptor antibodies				
http://purl.obolibrary.org/obo/MONDO_0016343	obsolete unclassified cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0016348	obsolete non-genetic cardiac rhythm disease				
http://purl.obolibrary.org/obo/MONDO_0016393	obsolete hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome				
http://purl.obolibrary.org/obo/MONDO_0016435	obsolete acquired dermis elastic tissue disorder with decreased elastic tissue				
http://purl.obolibrary.org/obo/MONDO_0016493	obsolete variant of Guillain-Barre syndrome				
http://purl.obolibrary.org/obo/MONDO_0016494	obsolete regional variant of Guillain-Barre syndrome				
http://purl.obolibrary.org/obo/MONDO_0016495	obsolete functional variant of Guillain-Barre syndrome				
http://purl.obolibrary.org/obo/MONDO_0016508	obsolete rare non surgically correctable form of primary aldosteronism				
http://purl.obolibrary.org/obo/MONDO_0016589	obsolete progressive cerebello-cerebral atrophy				
http://purl.obolibrary.org/obo/MONDO_0016592	obsolete non-hereditary degenerative ataxia				
http://purl.obolibrary.org/obo/MONDO_0016597	obsolete generalized pustular psoriasis				
http://purl.obolibrary.org/obo/MONDO_0016628	obsolete hemorrhagic disorder due to a coagulation factors defect				
http://purl.obolibrary.org/obo/MONDO_0016645	obsolete rare neoplastic disease				
http://purl.obolibrary.org/obo/MONDO_0016678	obsolete maternal disease-related embryofetopathy				
http://purl.obolibrary.org/obo/MONDO_0016815	obsolete Leigh syndrome with leukodystrophy				
http://purl.obolibrary.org/obo/MONDO_0016946	obsolete partial trisomy of the short arm of chromosome 9				
http://purl.obolibrary.org/obo/MONDO_0016963	obsolete partial duplication of the long arm of chromosome 13				
http://purl.obolibrary.org/obo/MONDO_0017002	obsolete polysomy of X chromosome				
http://purl.obolibrary.org/obo/MONDO_0017005	obsolete Y chromosome number anomaly				
http://purl.obolibrary.org/obo/MONDO_0017006	obsolete X and Y chromosomal anomaly				
http://purl.obolibrary.org/obo/MONDO_0017020	obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease				
http://purl.obolibrary.org/obo/MONDO_0017032	obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder				
http://purl.obolibrary.org/obo/MONDO_0017033	obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder				
http://purl.obolibrary.org/obo/MONDO_0017049	obsolete hypomyelination neuropathy-arthrogryposis syndrome				
http://purl.obolibrary.org/obo/MONDO_0017631	obsolete rare tumor of gallbladder and extrahepatic biliary tract				
http://purl.obolibrary.org/obo/MONDO_0017633	obsolete rare intoxication due to medical products				
http://purl.obolibrary.org/obo/MONDO_0017643	obsolete frontotemporal neurodegeneration with movement disorder				
http://purl.obolibrary.org/obo/MONDO_0017652	obsolete rare disease with myoclonus as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017680	obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature				
http://purl.obolibrary.org/obo/MONDO_0017707	obsolete disorder of lipid metabolism				
http://purl.obolibrary.org/obo/MONDO_0017709	obsolete disorder of lipid absorption and transport				
http://purl.obolibrary.org/obo/MONDO_0017952	obsolete non-familial rare disease with dilated cardiomyopathy				
http://purl.obolibrary.org/obo/MONDO_0017956	obsolete mixed autoinflammatory and autoimmune syndrome				
http://purl.obolibrary.org/obo/MONDO_0018200	obsolete acute encephalopathy with inflammation-mediated status epilepticus				
http://purl.obolibrary.org/obo/MONDO_0018246	obsolete homozygous 2p21 microdeletion syndrome				
http://purl.obolibrary.org/obo/MONDO_0018297	obsolete hypotonia-speech impairment-severe cognitive delay syndrome				
http://purl.obolibrary.org/obo/MONDO_0018300	obsolete genetic hyperaldosteronism				
http://purl.obolibrary.org/obo/MONDO_0018318	obsolete disorder of asparagine metabolism				
http://purl.obolibrary.org/obo/MONDO_0018331	obsolete rare genetic dystonia				
http://purl.obolibrary.org/obo/MONDO_0018337	obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency				
http://purl.obolibrary.org/obo/MONDO_0018340	obsolete hereditary isolated aplastic anemia				
http://purl.obolibrary.org/obo/MONDO_0018345	obsolete T+ B+ severe combined immunodeficiency				
http://purl.obolibrary.org/obo/MONDO_0018398	obsolete female infertility due to a congenital hypogonadotropic hypogonadism				
http://purl.obolibrary.org/obo/MONDO_0018403	obsolete female infertility due to an implantation defect				
http://purl.obolibrary.org/obo/MONDO_0018444	obsolete female infertility due to fertilization defect				
http://purl.obolibrary.org/obo/MONDO_0018520	obsolete rare epithelial tumor of pancreas				
http://purl.obolibrary.org/obo/MONDO_0018529	obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1				
http://purl.obolibrary.org/obo/MONDO_0018530	obsolete rare epithelial tumor of liver and intrahepatic biliary tract				
http://purl.obolibrary.org/obo/MONDO_0018545	obsolete primary immunodeficiency with predisposition to severe viral infection				
http://purl.obolibrary.org/obo/MONDO_0018574	obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome				
http://purl.obolibrary.org/obo/MONDO_0018575	obsolete microcephalic primordial dwarfism-insulin resistance syndrome				
http://purl.obolibrary.org/obo/MONDO_0018579	obsolete disorder of ketone body transport				
http://purl.obolibrary.org/obo/MONDO_0018580	obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome				
http://purl.obolibrary.org/obo/MONDO_0018618	obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect				
http://purl.obolibrary.org/obo/MONDO_0018627	obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor				
http://purl.obolibrary.org/obo/MONDO_0018652	obsolete biological anomaly without phenotypic characterization				
http://purl.obolibrary.org/obo/MONDO_0018775	obsolete axonal hereditary motor and sensory neuropathy				
http://purl.obolibrary.org/obo/MONDO_0018880	obsolete rare teratologic disease				
http://purl.obolibrary.org/obo/MONDO_0018972	obsolete rare epithelial tumor of stomach				
http://purl.obolibrary.org/obo/MONDO_0019038	obsolete rare maxillo-facial surgical disease				
http://purl.obolibrary.org/obo/MONDO_0019063	obsolete vascular anomaly				
http://purl.obolibrary.org/obo/MONDO_0019069	obsolete rhabdoid tumor				
http://purl.obolibrary.org/obo/MONDO_0019138	obsolete bleeding diathesis due to a collagen receptor defect				
http://purl.obolibrary.org/obo/MONDO_0019513	obsolete esophageal malformation				
http://purl.obolibrary.org/obo/MONDO_0019619	obsolete duplication of the esophagus				
http://purl.obolibrary.org/obo/MONDO_0019748	obsolete rare cause of hypertension				
http://purl.obolibrary.org/obo/MONDO_0019844	obsolete pituitary hormone deficiency secondary to storage disease				
http://purl.obolibrary.org/obo/MONDO_0019936	obsolete rare otorhinolaryngological malformation				
http://purl.obolibrary.org/obo/MONDO_0019937	obsolete rare gynecologic or obstetric disease				
http://purl.obolibrary.org/obo/MONDO_0019997	obsolete rare gastroenterologic disease				
http://purl.obolibrary.org/obo/MONDO_0019998	obsolete gastroduodenal malformation				
http://purl.obolibrary.org/obo/MONDO_0019999	obsolete intestinal malformation				
http://purl.obolibrary.org/obo/MONDO_0020003	obsolete rare surgical cardiac disease				
http://purl.obolibrary.org/obo/MONDO_0020012	obsolete systemic or rheumatic disease				
http://purl.obolibrary.org/obo/MONDO_0020013	obsolete rare odontologic disease				
http://purl.obolibrary.org/obo/MONDO_0020020	obsolete visceral malformation of the liver, biliary tract, pancreas or spleen				
http://purl.obolibrary.org/obo/MONDO_0020021	obsolete diaphragmatic or abdominal wall malformation				
http://purl.obolibrary.org/obo/MONDO_0020023	obsolete respiratory or mediastinal malformation				
http://purl.obolibrary.org/obo/MONDO_0020035	obsolete rare otorhinolaryngologic tumor				
http://purl.obolibrary.org/obo/MONDO_0020056	obsolete uniparental disomy of maternal origin				
http://purl.obolibrary.org/obo/MONDO_0020061	obsolete chromosome Y structural anomaly				
http://purl.obolibrary.org/obo/MONDO_0020073	obsolete adolescent-onset epilepsy syndrome				
http://purl.obolibrary.org/obo/MONDO_0020075	obsolete hereditary non-syndromic obesity				
http://purl.obolibrary.org/obo/MONDO_0020133	obsolete posterior fossa malformation				
http://purl.obolibrary.org/obo/MONDO_0020139	obsolete early-onset ataxia with dementia				
http://purl.obolibrary.org/obo/MONDO_0020145	obsolete developmental defect of the eye				
http://purl.obolibrary.org/obo/MONDO_0020147	obsolete anophthalmia-microphthalmia syndrome				
http://purl.obolibrary.org/obo/MONDO_0020181	obsolete mesenchymatous palpebral tumor				
http://purl.obolibrary.org/obo/MONDO_0020185	obsolete eyebrow/eyelashes hypertrichosis				
http://purl.obolibrary.org/obo/MONDO_0020255	obsolete oculomotor palsy				
http://purl.obolibrary.org/obo/MONDO_0020263	obsolete spinocerebellar ataxia with oculomotor anomaly				
http://purl.obolibrary.org/obo/MONDO_0020266	obsolete genodermatosis with ocular features				
http://purl.obolibrary.org/obo/MONDO_0020273	obsolete disease with potential neoplastic degeneration associated with ocular features				
http://purl.obolibrary.org/obo/MONDO_0020293	obsolete ascending aorta anomaly				
http://purl.obolibrary.org/obo/MONDO_0020506	obsolete ovarioleukodystrophy				
http://purl.obolibrary.org/obo/MONDO_0021195	obsolete disease by cellular process disrupted				
http://purl.obolibrary.org/obo/MONDO_0021198	obsolete rare genetic disease				
http://purl.obolibrary.org/obo/MONDO_0044876	obsolete drug hypersensitivity syndrome				
http://purl.obolibrary.org/obo/MONDO_0020617	obsolete blood group--ok				
http://purl.obolibrary.org/obo/MONDO_0020700	obsolete microcephaly, short stature, and impaired glucose metabolism				
http://purl.obolibrary.org/obo/MONDO_0024996	obsolete Usher syndrome, type 2b				
http://purl.obolibrary.org/obo/MONDO_0027416	obsolete retinal cone dystrophy 2				
http://purl.obolibrary.org/obo/MONDO_0028618	obsolete gastroenteric neuroendocrine neoplasm				
http://purl.obolibrary.org/obo/MONDO_0028737	obsolete biliary atresia disorder				
http://purl.obolibrary.org/obo/MONDO_0028741	obsolete overgrowth or tall stature syndrome with skeletal involvement				
http://purl.obolibrary.org/obo/MONDO_0028742	obsolete dysostosis with brachydactyly without extraskeletal manifestations				
http://purl.obolibrary.org/obo/MONDO_0028743	obsolete dysostosis with brachydactyly with extraskeletal manifestations				
http://purl.obolibrary.org/obo/MONDO_0029146	obsolete Saul-Wilson syndrome				
http://purl.obolibrary.org/obo/MONDO_0100245	obsolete acquired paroxysmal nocturnal hemoglobinuria				
http://purl.obolibrary.org/obo/MONDO_0100282	obsolete SC phocomelia syndrome				
http://purl.obolibrary.org/obo/MONDO_0800112	obsolete non-atopic asthma				
http://purl.obolibrary.org/obo/MONDO_0859761	obsolete SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome				
http://purl.obolibrary.org/obo/MONDO_0859762	obsolete SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome				
http://purl.obolibrary.org/obo/MONDO_0005018	obsolete diffuse large B-cell lymphoma				
http://purl.obolibrary.org/obo/MONDO_0020742	obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome				
http://purl.obolibrary.org/obo/MONDO_0958201	obsolete myoclonic epilepsy of Lafora 2				
http://purl.obolibrary.org/obo/MONDO_0700294	obsolete CTCF-related neurodevelopmental disorder				
http://purl.obolibrary.org/obo/MONDO_0021197	obsolete disease by cellular component affected				
http://purl.obolibrary.org/obo/MONDO_0035117	obsolete PUM1-associated developmental disability-ataxia-seizure syndrome				
http://purl.obolibrary.org/obo/MONDO_0035122	obsolete GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder				
http://purl.obolibrary.org/obo/MONDO_0100300	obsolete hereditary capillary infantile hemangioma				
http://purl.obolibrary.org/obo/MONDO_0859345	obsolete branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome				
http://purl.obolibrary.org/obo/RO_0004027	disease has inflammation site	http://purl.obolibrary.org/obo/RO_0004026	disease has location		A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity
http://purl.obolibrary.org/obo/RO_0004028	realized in response to stimulus	http://purl.obolibrary.org/obo/RO_0002410	causally related to		A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M.
http://purl.obolibrary.org/obo/RO_0004029	disease has feature	http://purl.obolibrary.org/obo/RO_0040035	disease relationship		A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease.
http://purl.obolibrary.org/obo/RO_0004030	disease arises from alteration in structure	http://purl.obolibrary.org/obo/RO_0004019	disease has basis in		A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. Anatomical structure includes cellular and sub-cellular entities, such as chromosome and organelles.
http://purl.obolibrary.org/obo/ENVO_02000200	has increased levels of	http://purl.obolibrary.org/obo/RO_0002180	has component		A has part relationship between a whole and a part, where the number of parts present in the whole is higher than in comparable entities.
http://purl.obolibrary.org/obo/RO_0002100	has soma location	http://purl.obolibrary.org/obo/RO_0002131	overlaps		Relation between a neuron and a material anatomical entity that its soma is part of.
http://purl.obolibrary.org/obo/RO_0002258	developmentally preceded by	http://purl.obolibrary.org/obo/RO_0002324	developmentally related to		Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p
http://purl.obolibrary.org/obo/RO_0002234	has output	http://purl.obolibrary.org/obo/RO_0000057	has participant		p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p.
http://purl.obolibrary.org/obo/RO_0002162	in taxon	http://purl.obolibrary.org/obo/RO_0002320	evolutionarily related to		x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed.
http://purl.obolibrary.org/obo/RO_0002286	developmentally succeeded by	http://purl.obolibrary.org/obo/RO_0002384	has developmental potential involving		Inverse of developmentally preceded by
http://purl.obolibrary.org/obo/RO_0002371	attached to	http://purl.obolibrary.org/obo/RO_0002177	attached to part of		a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a
http://purl.obolibrary.org/obo/RO_0002384	has developmental potential involving	http://purl.obolibrary.org/obo/RO_0002324	developmentally related to		x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction).
http://purl.obolibrary.org/obo/RO_0002388	has potential to directly develop into	http://purl.obolibrary.org/obo/RO_0002387	has potential to develop into		x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y
http://purl.obolibrary.org/obo/RO_0002178	supplies	http://purl.obolibrary.org/obo/RO_0002170	connected to		Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.
http://purl.obolibrary.org/obo/RO_0002372	has muscle origin	http://purl.obolibrary.org/obo/RO_0002567	biomechanically related to		m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.
http://purl.obolibrary.org/obo/RO_0002374	derived from ancestral fusion of	http://purl.obolibrary.org/obo/RO_0002156	derived by descent from		x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat
http://purl.obolibrary.org/obo/RO_0002380	branching part of	http://purl.obolibrary.org/obo/RO_0002375	in branching relationship with		x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y
http://purl.obolibrary.org/obo/RO_0002568	has muscle antagonist	http://purl.obolibrary.org/obo/RO_0002567	biomechanically related to		m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.
http://purl.obolibrary.org/obo/RO_0002569	has branching part	http://purl.obolibrary.org/obo/RO_0002375	in branching relationship with		inverse of branching part of
http://purl.obolibrary.org/obo/RO_0002571	lumen of	http://purl.obolibrary.org/obo/BFO_0000050	part of		x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull.
http://purl.obolibrary.org/obo/RO_0004020	disease has basis in dysfunction of	http://purl.obolibrary.org/obo/RO_0004019	disease has basis in		A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function.
http://purl.obolibrary.org/obo/RO_0004021	disease caused by disruption of	http://purl.obolibrary.org/obo/RO_0004019	disease has basis in		A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process.
http://purl.obolibrary.org/obo/RO_0004022	disease arises from feature	http://purl.obolibrary.org/obo/RO_0004019	disease has basis in		A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature.
http://purl.obolibrary.org/obo/RO_0004024	disease disrupts	http://purl.obolibrary.org/obo/RO_0004023	causal relationship with disease as subject		A relationship between a disease and a process where the disease process disrupts the execution of the process.
http://purl.obolibrary.org/obo/BFO_0000063	precedes	http://purl.obolibrary.org/obo/RO_0002222	temporally related to		x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.
http://purl.obolibrary.org/obo/RO_0000052	characteristic of	http://purl.obolibrary.org/obo/RO_0002314	characteristic of part of		a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.
http://purl.obolibrary.org/obo/RO_0000080	quality of	http://purl.obolibrary.org/obo/RO_0000052	characteristic of		a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence
http://purl.obolibrary.org/obo/RO_0000086	has quality	http://purl.obolibrary.org/obo/RO_0000053	has characteristic		a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence
http://purl.obolibrary.org/obo/RO_0002000	2D boundary of	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity
http://purl.obolibrary.org/obo/RO_0002002	has 2D boundary	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity
http://purl.obolibrary.org/obo/RO_0002219	surrounded by	http://purl.obolibrary.org/obo/RO_0002220	adjacent to		x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x
http://purl.obolibrary.org/obo/RO_0002220	adjacent to	http://purl.obolibrary.org/obo/RO_0002163	spatially disjoint from		x adjacent to y if and only if x and y share a boundary.
http://purl.obolibrary.org/obo/RO_0002223	starts	http://purl.obolibrary.org/obo/BFO_0000050	part of		inverse of starts with
http://purl.obolibrary.org/obo/RO_0002350	member of	http://purl.obolibrary.org/obo/BFO_0000050	part of		is member of is a mereological relation between a item and a collection.
http://purl.obolibrary.org/obo/RO_0002351	has member	http://purl.obolibrary.org/obo/BFO_0000051	has part		has member is a mereological relation between a collection and an item.
http://purl.obolibrary.org/obo/RO_0002200	has phenotype	http://purl.obolibrary.org/obo/RO_0016001	has phenotype or disease		A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype).
http://purl.obolibrary.org/obo/RO_0002202	develops from	http://purl.obolibrary.org/obo/RO_0002254	has developmental contribution from		x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y
http://purl.obolibrary.org/obo/RO_0002451	transmitted by	http://purl.obolibrary.org/obo/RO_0002321	ecologically related to		A relationship that holds between a disease and organism
http://purl.obolibrary.org/obo/RO_0002309	has exposure stimulus	http://purl.obolibrary.org/obo/RO_0002244	related via exposure to		A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event.
http://purl.obolibrary.org/obo/BFO_0000051	has part	http://purl.obolibrary.org/obo/RO_0002131	overlaps		a core relation that holds between a whole and its part
http://purl.obolibrary.org/obo/RO_0000087	has role	http://purl.obolibrary.org/obo/RO_0000053	has characteristic		a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence
http://purl.obolibrary.org/obo/RO_0002176	connects	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system.
http://purl.obolibrary.org/obo/RO_0002491	existence starts and ends during	http://purl.obolibrary.org/obo/RO_0002492	existence ends during		x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y)
http://purl.obolibrary.org/obo/RO_0002404	causally downstream of	http://purl.obolibrary.org/obo/RO_0002427	causally downstream of or within		inverse of upstream of
http://purl.obolibrary.org/obo/RO_0002412	immediately causally upstream of	http://purl.obolibrary.org/obo/RO_0002411	causally upstream of		p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q.
http://purl.obolibrary.org/obo/RO_0002566	causally influences	http://purl.obolibrary.org/obo/RO_0002506	causal relation between entities		The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size).
http://purl.obolibrary.org/obo/RO_0003302	causes or contributes to condition	http://purl.obolibrary.org/obo/RO_0002410	causally related to		A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal or contributing role that influences the condition.
http://purl.obolibrary.org/obo/RO_0003303	causes condition	http://purl.obolibrary.org/obo/RO_0003302	causes or contributes to condition		A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal role for the condition.
http://purl.obolibrary.org/obo/RO_0002490	existence overlaps	http://purl.obolibrary.org/obo/RO_0002487	relation between physical entity and a process or stage		x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y))
http://purl.obolibrary.org/obo/RO_0002244	related via exposure to	http://purl.obolibrary.org/obo/RO_0002410	causally related to		Any relationship between an exposure event or process and any other entity.
http://purl.obolibrary.org/obo/RO_0002252	connecting branch of	http://purl.obolibrary.org/obo/RO_0002375	in branching relationship with		b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t.
http://purl.obolibrary.org/obo/RO_0002253	has connecting branch	http://purl.obolibrary.org/obo/RO_0002375	in branching relationship with		inverse of connecting branch of
http://purl.obolibrary.org/obo/RO_0002263	acts upstream of	http://purl.obolibrary.org/obo/RO_0002264	acts upstream of or within		c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes.
http://purl.obolibrary.org/obo/RO_0002304	causally upstream of, positive effect	http://purl.obolibrary.org/obo/RO_0004047	causally upstream of or within, positive effect		p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q.
http://purl.obolibrary.org/obo/RO_0002305	causally upstream of, negative effect	http://purl.obolibrary.org/obo/RO_0004046	causally upstream of or within, negative effect		p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q.
http://purl.obolibrary.org/obo/RO_0002131	overlaps	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		x overlaps y if and only if there exists some z such that x has part z and z part of y
http://purl.obolibrary.org/obo/RO_0002150	continuous with	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		X continuous_with Y if and only if X and Y share a fiat boundary.
http://purl.obolibrary.org/obo/RO_0002254	has developmental contribution from	http://purl.obolibrary.org/obo/RO_0002258	developmentally preceded by		x has developmental contribution from y iff x has some part z such that z develops from y
http://purl.obolibrary.org/obo/RO_0002496	existence starts during or after	http://purl.obolibrary.org/obo/RO_0002487	relation between physical entity and a process or stage		x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y).
http://purl.obolibrary.org/obo/RO_0002497	existence ends during or before	http://purl.obolibrary.org/obo/RO_0002487	relation between physical entity and a process or stage		x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends.
http://purl.obolibrary.org/obo/RO_0000091	has disposition	http://purl.obolibrary.org/obo/RO_0000053	has characteristic		a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence
http://purl.obolibrary.org/obo/RO_0000092	disposition of	http://purl.obolibrary.org/obo/RO_0000052	characteristic of		inverse of has disposition
http://purl.obolibrary.org/obo/BFO_0000062	preceded by	http://purl.obolibrary.org/obo/RO_0002086	ends after		x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.
http://purl.obolibrary.org/obo/RO_0002156	derived by descent from	http://purl.obolibrary.org/obo/RO_0002320	evolutionarily related to		d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a.
http://purl.obolibrary.org/obo/RO_0000081	role of	http://purl.obolibrary.org/obo/RO_0000052	characteristic of		a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence
http://purl.obolibrary.org/obo/RO_0002411	causally upstream of	http://purl.obolibrary.org/obo/RO_0002418	causally upstream of or within		p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q.
http://purl.obolibrary.org/obo/RO_0018033	is deprotonated form of	http://purl.obolibrary.org/obo/RO_0018030	chemical relationship		A is a deprotonated form of B if and only if A is chemical entity that is a Brønsted–Lowry Base (i.e., can receive a proton) and by adding some nonzero number of protons transforms it into B.

This is a transitive relationship and follows this design pattern: https://oborel.github.io/obo-relations/direct-and-indirect-relations.
http://purl.obolibrary.org/obo/RO_0018034	is protonated form of	http://purl.obolibrary.org/obo/RO_0018030	chemical relationship		A is a protonated form of B if and only if A is chemical entity that is a Brønsted–Lowry Acid (i.e., can give up a proton) and by removing some nonzero number of protons transforms it into B.

This is a transitive relationship and follows this design pattern: https://oborel.github.io/obo-relations/direct-and-indirect-relations.
http://purl.obolibrary.org/obo/RO_0018036	is tautomer of	http://purl.obolibrary.org/obo/RO_0018030	chemical relationship		Two chemicals are tautomers if they can be readily interconverted.

This commonly refers to prototropy in which a hydrogen's position is changed, such as between ketones and enols. This is also often observed in heterocyclic rings, e.g., ones containing nitrogens and/or have aryl functional groups containing heteroatoms.
http://purl.obolibrary.org/obo/RO_0018037	is substitutent group from	http://purl.obolibrary.org/obo/RO_0018030	chemical relationship		Group A is a substituent group from Chemical B if A represents the functional part of A and includes information about where it is connected. A is not itself a chemical with a fully formed chemical graph, but is rather a partial graph with one or more connection points that can be used to attach to another chemical graph, typically as a functionalization.
http://purl.obolibrary.org/obo/RO_0018038	has functional parent	http://purl.obolibrary.org/obo/RO_0018030	chemical relationship		Chemical A has functional parent Chemical B if there is chemical transformation through which chemical B can be produced from chemical A. 

For example, the relationship between a salt and a freebased compound is a "has functional parent" relationship.
http://purl.obolibrary.org/obo/RO_0018039	is enantiomer of	http://purl.obolibrary.org/obo/RO_0018030	chemical relationship		Chemicals A and B are enantiomers if they share the same molecular graph except the change of the configuration of substituents around exactly one chiral center.

A chemical with no chiral centers can not have an enantiomer. A chemical with multiple chiral centers can have multiple enantiomers, but its enantiomers are not themselves enantiomers (they are diastereomers).
http://purl.obolibrary.org/obo/RO_0018040	has parent hydride	http://purl.obolibrary.org/obo/RO_0018030	chemical relationship		Chemical A has parent hydride Chemical B if there exists a molecular graphical transformation where functional groups on A are replaced with hydrogens in order to yield B.
http://purl.obolibrary.org/obo/BFO_0000050	part of	http://purl.obolibrary.org/obo/RO_0002131	overlaps		a core relation that holds between a part and its whole
http://purl.obolibrary.org/obo/RO_0002211	regulates	http://purl.obolibrary.org/obo/RO_0002411	causally upstream of		p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q.
http://purl.obolibrary.org/obo/RO_0002212	negatively regulates	http://purl.obolibrary.org/obo/RO_0002211	regulates		p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q.
http://purl.obolibrary.org/obo/RO_0002213	positively regulates	http://purl.obolibrary.org/obo/RO_0002211	regulates		p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q.
http://purl.obolibrary.org/obo/RO_0002180	has component	http://purl.obolibrary.org/obo/BFO_0000051	has part		w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.
http://purl.obolibrary.org/obo/RO_0002163	spatially disjoint from	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		A is spatially_disjoint_from B if and only if they have no parts in common
http://purl.obolibrary.org/obo/RO_0002233	has input	http://purl.obolibrary.org/obo/RO_0000057	has participant		p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p.
http://purl.obolibrary.org/obo/RO_0002314	characteristic of part of	http://purl.obolibrary.org/obo/RO_0002502	depends on		q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w.
http://purl.obolibrary.org/obo/RO_0002352	input of	http://purl.obolibrary.org/obo/RO_0002328	functionally related to		inverse of has input
http://purl.obolibrary.org/obo/RO_0002353	output of	http://purl.obolibrary.org/obo/RO_0002328	functionally related to		inverse of has output
http://purl.obolibrary.org/obo/RO_0002473	composed primarily of	http://purl.obolibrary.org/obo/BFO_0000051	has part		x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y.
http://purl.obolibrary.org/obo/RO_0002104	has plasma membrane part	http://purl.obolibrary.org/obo/BFO_0000051	has part		Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part.
http://purl.obolibrary.org/obo/RO_0002203	develops into	http://purl.obolibrary.org/obo/RO_0002387	has potential to develop into		inverse of develops from
http://purl.obolibrary.org/obo/RO_0002215	capable of	http://purl.obolibrary.org/obo/RO_0002216	capable of part of		A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. 
http://purl.obolibrary.org/obo/RO_0002387	has potential to develop into	http://purl.obolibrary.org/obo/RO_0002384	has developmental potential involving		x has the potential to develop into y iff x develops into y or if x is capable of developing into y
http://purl.obolibrary.org/obo/FOODON_00001563	has defining ingredient	http://purl.obolibrary.org/obo/FOODON_00002420	has ingredient		A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient.
http://purl.obolibrary.org/obo/RO_0002007	bounding layer of	http://purl.obolibrary.org/obo/BFO_0000050	part of		X outer_layer_of Y iff:
. X :continuant that bearer_of some PATO:laminar
. X part_of Y
. exists Z :surface
. X has_boundary Z
. Z boundary_of Y

has_boundary: http://purl.obolibrary.org/obo/RO_0002002
boundary_of: http://purl.obolibrary.org/obo/RO_0002000
http://purl.obolibrary.org/obo/RO_0002170	connected to	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b
http://purl.obolibrary.org/obo/RO_0002177	attached to part of	http://purl.obolibrary.org/obo/RO_0002567	biomechanically related to		a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b.
http://purl.obolibrary.org/obo/RO_0002179	drains	http://purl.obolibrary.org/obo/RO_0002170	connected to		Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure.
http://purl.obolibrary.org/obo/RO_0002264	acts upstream of or within	http://purl.obolibrary.org/obo/RO_0002500	causal agent in process		c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process.
http://purl.obolibrary.org/obo/RO_0002375	in branching relationship with	http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to		A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network.
http://purl.obolibrary.org/obo/RO_0002376	tributary of	http://purl.obolibrary.org/obo/RO_0002375	in branching relationship with		x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein.
http://purl.obolibrary.org/obo/RO_0002431	involved in or involved in regulation of	http://purl.obolibrary.org/obo/RO_0002500	causal agent in process		c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p
http://purl.obolibrary.org/obo/RO_0002503	towards	http://purl.obolibrary.org/obo/RO_0002502	depends on		q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2
http://purl.obolibrary.org/obo/RO_0002567	biomechanically related to	http://purl.obolibrary.org/obo/RO_0002328	functionally related to		A relation that holds between elements of a musculoskeletal system or its analogs.
http://purl.obolibrary.org/obo/RO_0002373	has muscle insertion	http://purl.obolibrary.org/obo/RO_0002567	biomechanically related to		m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.
http://purl.obolibrary.org/obo/RO_0002433	contributes to morphology of	http://purl.obolibrary.org/obo/RO_0002131	overlaps		p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm.
http://purl.obolibrary.org/obo/RO_0002488	existence starts during	http://purl.obolibrary.org/obo/RO_0002496	existence starts during or after		x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y).
http://purl.obolibrary.org/obo/RO_0002489	existence starts with	http://purl.obolibrary.org/obo/RO_0002488	existence starts during		x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y).
http://purl.obolibrary.org/obo/RO_0002492	existence ends during	http://purl.obolibrary.org/obo/RO_0002497	existence ends during or before		x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y).
http://purl.obolibrary.org/obo/RO_0002493	existence ends with	http://purl.obolibrary.org/obo/RO_0002492	existence ends during		x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y).
http://purl.obolibrary.org/obo/RO_0002494	transformation of	http://purl.obolibrary.org/obo/RO_0002202	develops from		x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships
http://purl.obolibrary.org/obo/RO_0002495	immediate transformation of	http://purl.obolibrary.org/obo/RO_0002207	directly develops from		x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t
http://purl.obolibrary.org/obo/RO_0002507	determined by	http://purl.obolibrary.org/obo/RO_0002559	causally influenced by		s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s.
http://purl.obolibrary.org/obo/RO_0002551	has skeleton	http://purl.obolibrary.org/obo/BFO_0000051	has part		A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision.
http://purl.obolibrary.org/obo/RO_0002572	luminal space of	http://purl.obolibrary.org/obo/RO_0002571	lumen of		s is luminal space of x iff s is lumen_of x and s is an immaterial entity
http://purl.obolibrary.org/obo/RO_0002576	skeleton of	http://purl.obolibrary.org/obo/BFO_0000050	part of		inverse of has skeleton
http://purl.obolibrary.org/obo/FOODON_00002420	has ingredient	http://purl.obolibrary.org/obo/RO_0009001	has substance added		A relation attaching between a food material and another food material that has been added to it at some point in its history.
http://purl.obolibrary.org/obo/RO_0004011	is causal gain of function germline mutation of in	http://purl.obolibrary.org/obo/RO_0004010	is genetic basis for condition		Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].
http://purl.obolibrary.org/obo/RO_0004013	is causal germline mutation in	http://purl.obolibrary.org/obo/RO_0004010	is genetic basis for condition		Relates a gene to condition, such that a mutation in this gene is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].
http://purl.obolibrary.org/obo/RO_0004014	is causal somatic mutation in	http://purl.obolibrary.org/obo/RO_0004010	is genetic basis for condition		Relates a gene to condition, such that a mutation in this gene is sufficient to produce the condition but that cannot be passed on to offspring[modified from orphanet].
http://purl.obolibrary.org/obo/RO_0020101	vessel supplies blood to	http://purl.obolibrary.org/obo/RO_0002178	supplies		x vessel supplies blood to y if and only if x is a vessel that supplies blood directly or indirectly to an anatomical structure y.
http://purl.obolibrary.org/obo/RO_0020102	vessel drains blood from	http://purl.obolibrary.org/obo/RO_0002179	drains		x vessel drains blood from y if and only if x is a vessel that drains blood directly or indirectly from an anatomical structure y.
http://purl.obolibrary.org/obo/RO_0002103	synapsed by	http://purl.obolibrary.org/obo/RO_0002485	receives input from		Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. 
http://purl.obolibrary.org/obo/RO_0002110	has postsynaptic terminal in	http://purl.obolibrary.org/obo/RO_0002130	has synaptic terminal in		Relation between a neuron and some structure (e.g.- a brain region) in which it receives (chemical) synaptic input. 
http://purl.obolibrary.org/obo/RO_0002113	has presynaptic terminal in	http://purl.obolibrary.org/obo/RO_0002130	has synaptic terminal in		Relation between a neuron and some structure (e.g.- a brain region) in which it receives (chemical) synaptic input.
http://purl.obolibrary.org/obo/RO_0002120	synapsed to	http://purl.obolibrary.org/obo/RO_0002486	sends output to		 Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to.
        
http://purl.obolibrary.org/obo/RO_0002130	has synaptic terminal in	http://purl.obolibrary.org/obo/RO_0002131	overlaps		A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input.
http://purl.obolibrary.org/obo/RO_0002216	capable of part of	http://purl.obolibrary.org/obo/RO_0002500	causal agent in process		c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p.
http://purl.obolibrary.org/obo/RO_0002255	developmentally contributes to	http://purl.obolibrary.org/obo/RO_0002385	has potential to developmentally contribute to		inverse of has developmental contribution from
http://purl.obolibrary.org/obo/RO_0002329	part of structure that is capable of	http://purl.obolibrary.org/obo/RO_0002328	functionally related to		this relation holds between c and p when c is part of some c', and c' is capable of p.
http://purl.obolibrary.org/obo/RO_0002334	regulated by	http://purl.obolibrary.org/obo/RO_0002427	causally downstream of or within		inverse of regulates
http://purl.obolibrary.org/obo/RO_0002335	negatively regulated by	http://purl.obolibrary.org/obo/RO_0002334	regulated by		inverse of negatively regulates
http://purl.obolibrary.org/obo/RO_0002336	positively regulated by	http://purl.obolibrary.org/obo/RO_0002334	regulated by		inverse of positively regulates
http://purl.obolibrary.org/obo/RO_0002379	spatially coextensive with	http://purl.obolibrary.org/obo/RO_0002131	overlaps		x spatially_coextensive_with y if and inly if x and y have the same location
http://purl.obolibrary.org/obo/RO_0002385	has potential to developmentally contribute to	http://purl.obolibrary.org/obo/RO_0002384	has developmental potential involving		x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y
http://purl.obolibrary.org/obo/RO_0002418	causally upstream of or within	http://purl.obolibrary.org/obo/RO_0002501	causal relation between processes		p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q.
http://purl.obolibrary.org/obo/RO_0002427	causally downstream of or within	http://purl.obolibrary.org/obo/RO_0002501	causal relation between processes		inverse of causally upstream of or within
http://purl.obolibrary.org/obo/RO_0002500	causal agent in process	http://purl.obolibrary.org/obo/RO_0002595	causal relation between material entity and a process		A relationship between a material entity and a process where the material entity has some causal role that influences the process
http://purl.obolibrary.org/obo/RO_0002501	causal relation between processes	http://purl.obolibrary.org/obo/RO_0002410	causally related to		p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q.
http://purl.obolibrary.org/obo/RO_0002584	has part structure that is capable of	http://purl.obolibrary.org/obo/RO_0002595	causal relation between material entity and a process		s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p
http://purl.obolibrary.org/obo/RO_0002595	causal relation between material entity and a process	http://purl.obolibrary.org/obo/RO_0002410	causally related to		A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity.
http://purl.obolibrary.org/obo/RO_0002596	capable of regulating	http://purl.obolibrary.org/obo/RO_0002500	causal agent in process		Holds between c and p if and only if c is capable of some activity a, and a regulates p.
http://purl.obolibrary.org/obo/RO_0002597	capable of negatively regulating	http://purl.obolibrary.org/obo/RO_0002596	capable of regulating		Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p.
http://purl.obolibrary.org/obo/RO_0002598	capable of positively regulating	http://purl.obolibrary.org/obo/RO_0002596	capable of regulating		Holds between c and p if and only if c is capable of some activity a, and a positively regulates p.
http://purl.obolibrary.org/obo/RO_0002608	process has causal agent	http://purl.obolibrary.org/obo/RO_0002410	causally related to		Inverse of 'causal agent in process'
http://purl.obolibrary.org/obo/RO_0002082	simultaneous with	http://purl.obolibrary.org/obo/RO_0002081	before or simultaneous with		x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time.
http://purl.obolibrary.org/obo/RO_0002157	has derived by descendant	http://purl.obolibrary.org/obo/RO_0002320	evolutionarily related to		inverse of derived by descent from
http://purl.obolibrary.org/obo/RO_0002158	shares ancestor with	http://purl.obolibrary.org/obo/RO_0002320	evolutionarily related to		two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a.
http://purl.obolibrary.org/obo/RO_0002207	directly develops from	http://purl.obolibrary.org/obo/RO_0002202	develops from		Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y.
http://purl.obolibrary.org/obo/RO_0002210	directly develops into	http://purl.obolibrary.org/obo/RO_0002203	develops into		inverse of directly develops from
http://purl.obolibrary.org/obo/RO_0002221	surrounds	http://purl.obolibrary.org/obo/RO_0002220	adjacent to		inverse of surrounded by
http://purl.obolibrary.org/obo/RO_0002224	starts with	http://purl.obolibrary.org/obo/RO_0002222	temporally related to		x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.
http://purl.obolibrary.org/obo/RO_0002225	develops from part of	http://purl.obolibrary.org/obo/RO_0002202	develops from		x develops from part of y if and only if there exists some z such that x develops from z and z is part of y
http://purl.obolibrary.org/obo/RO_0002226	develops in	http://purl.obolibrary.org/obo/RO_0002258	developmentally preceded by		x develops_in y if x is located in y whilst x is developing
http://purl.obolibrary.org/obo/RO_0002229	ends	http://purl.obolibrary.org/obo/BFO_0000050	part of		inverse of ends with
http://purl.obolibrary.org/obo/RO_0002230	ends with	http://purl.obolibrary.org/obo/RO_0002222	temporally related to		x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.
http://purl.obolibrary.org/obo/RO_0002231	has start location	http://purl.obolibrary.org/obo/RO_0002479	has part that occurs in		x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y
http://purl.obolibrary.org/obo/RO_0002232	has end location	http://purl.obolibrary.org/obo/RO_0002479	has part that occurs in		x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y
http://purl.obolibrary.org/obo/RO_0002256	developmentally induced by	http://purl.obolibrary.org/obo/RO_0002258	developmentally preceded by		t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T
http://purl.obolibrary.org/obo/RO_0002257	developmentally induces	http://purl.obolibrary.org/obo/RO_0002386	has potential to developmentally induce		Inverse of developmentally induced by
http://purl.obolibrary.org/obo/RO_0002285	developmentally replaces	http://purl.obolibrary.org/obo/RO_0002258	developmentally preceded by		x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else
http://purl.obolibrary.org/obo/RO_0002295	results in developmental progression of	http://purl.obolibrary.org/obo/RO_0002324	developmentally related to		p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss).
http://purl.obolibrary.org/obo/RO_0002303	has habitat	http://purl.obolibrary.org/obo/RO_0002321	ecologically related to		x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs.
http://purl.obolibrary.org/obo/RO_0009501	realized in response to	http://purl.obolibrary.org/obo/RO_0002410	causally related to		r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r.
http://purl.obolibrary.org/obo/RO_0004026	disease has location	http://purl.obolibrary.org/obo/RO_0040035	disease relationship		A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity.
http://purl.obolibrary.org/obo/RO_0014001	disease has infectious agent	http://purl.obolibrary.org/obo/RO_0004019	disease has basis in		A relationship between a disease and an infectious agent where the material basis of the disease is an infection with some infectious agent.
http://purl.obolibrary.org/obo/RO_0002339	has target end location	http://purl.obolibrary.org/obo/RO_0002344	results in transport to from or in		This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l.
http://purl.obolibrary.org/obo/RO_0002386	has potential to developmentally induce	http://purl.obolibrary.org/obo/RO_0002384	has developmental potential involving		x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y
http://purl.obolibrary.org/obo/RO_0002413	provides input for	http://purl.obolibrary.org/obo/RO_0002414	transitively provides input for		p provides input for q iff p is immediately causally upstream of q, and there exists some c such that p has_output c and q has_input c.
http://purl.obolibrary.org/obo/RO_0002414	transitively provides input for	http://purl.obolibrary.org/obo/RO_0004047	causally upstream of or within, positive effect		transitive form of directly_provides_input_for
http://purl.obolibrary.org/obo/RO_0002428	involved in regulation of	http://purl.obolibrary.org/obo/RO_0002431	involved in or involved in regulation of		c involved in regulation of p if c is involved in some p' and p' regulates some p
http://purl.obolibrary.org/obo/RO_0002508	determines	http://purl.obolibrary.org/obo/RO_0002566	causally influences		inverse of determined by
http://purl.obolibrary.org/obo/RO_0002509	determined by part of	http://purl.obolibrary.org/obo/RO_0002131	overlaps		s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w.
http://purl.obolibrary.org/obo/RO_0002570	conduit for	http://purl.obolibrary.org/obo/RO_0002131	overlaps		x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x.
http://purl.obolibrary.org/obo/mondo#disease_has_major_feature	disease has major feature	http://purl.obolibrary.org/obo/RO_0004029	disease has feature		
http://purl.obolibrary.org/obo/RO_0002297	results in formation of anatomical entity	http://purl.obolibrary.org/obo/RO_0002295	results in developmental progression of		
http://purl.obolibrary.org/obo/RO_0002287	part of developmental precursor of	http://purl.obolibrary.org/obo/RO_0002286	developmentally succeeded by		
http://purl.obolibrary.org/obo/RO_0002159	serially homologous to	http://purl.obolibrary.org/obo/RO_0002320	evolutionarily related to		
http://purl.obolibrary.org/obo/RO_0002090	immediately precedes	http://purl.obolibrary.org/obo/BFO_0000063	precedes		
http://purl.obolibrary.org/obo/RO_0002405	immediately causally downstream of	http://purl.obolibrary.org/obo/RO_0002404	causally downstream of		
http://purl.obolibrary.org/obo/RO_0002559	causally influenced by	http://purl.obolibrary.org/obo/RO_0002506	causal relation between entities		
http://purl.obolibrary.org/obo/RO_0002563	interaction relation helper property	http://purl.obolibrary.org/obo/RO_0002464	helper property (not for use in curation)		
http://purl.obolibrary.org/obo/RO_0002564	molecular interaction relation helper property	http://purl.obolibrary.org/obo/RO_0002563	interaction relation helper property		
http://purl.obolibrary.org/obo/RO_0002481	is kinase activity	http://purl.obolibrary.org/obo/RO_0002564	molecular interaction relation helper property		
http://purl.obolibrary.org/obo/RO_0002006	has synaptic terminal of	http://purl.obolibrary.org/obo/RO_0002131	overlaps		
http://purl.obolibrary.org/obo/RO_0002360	has dendrite location	http://purl.obolibrary.org/obo/RO_0002131	overlaps		
http://purl.obolibrary.org/obo/RO_0002087	immediately preceded by	http://purl.obolibrary.org/obo/BFO_0000062	preceded by		
http://purl.obolibrary.org/obo/RO_0002081	before or simultaneous with	http://purl.obolibrary.org/obo/RO_0002222	temporally related to		
http://purl.obolibrary.org/obo/RO_0002086	ends after	http://purl.obolibrary.org/obo/RO_0002222	temporally related to		
http://purl.obolibrary.org/obo/RO_0002093	ends during	http://purl.obolibrary.org/obo/RO_0002222	temporally related to		
http://purl.obolibrary.org/obo/RO_0002084	during which ends	http://purl.obolibrary.org/obo/RO_0002222	temporally related to		
http://purl.obolibrary.org/obo/RO_0015007	increased in magnitude relative to	http://purl.obolibrary.org/obo/RO_0015006	different in magnitude relative to		
http://purl.obolibrary.org/obo/RO_0015008	decreased in magnitude relative to	http://purl.obolibrary.org/obo/RO_0015006	different in magnitude relative to		
http://purl.obolibrary.org/obo/RO_0002354	formed as result of	http://purl.obolibrary.org/obo/RO_0002353	output of		
http://purl.obolibrary.org/obo/RO_0015015	has high plasma membrane amount	http://purl.obolibrary.org/obo/RO_0002104	has plasma membrane part		
http://purl.obolibrary.org/obo/RO_0015016	has low plasma membrane amount	http://purl.obolibrary.org/obo/RO_0002104	has plasma membrane part		
http://purl.obolibrary.org/obo/RO_0002485	receives input from	http://purl.obolibrary.org/obo/RO_0002170	connected to		
http://purl.obolibrary.org/obo/RO_0002486	sends output to	http://purl.obolibrary.org/obo/RO_0002170	connected to		
http://purl.obolibrary.org/obo/RO_0002322	confers advantage in	http://purl.obolibrary.org/obo/RO_0002321	ecologically related to		
http://purl.obolibrary.org/obo/RO_0004001	has material basis in gain of function germline mutation in	http://purl.obolibrary.org/obo/RO_0004000	condition has genetic basis in		
http://purl.obolibrary.org/obo/RO_0004003	has material basis in germline mutation in	http://purl.obolibrary.org/obo/RO_0004000	condition has genetic basis in		
http://purl.obolibrary.org/obo/RO_0004004	has material basis in somatic mutation in	http://purl.obolibrary.org/obo/RO_0004000	condition has genetic basis in		
http://purl.obolibrary.org/obo/RO_0004019	disease has basis in	http://purl.obolibrary.org/obo/RO_0004023	causal relationship with disease as subject		
http://purl.obolibrary.org/obo/RO_0004010	is genetic basis for condition	http://purl.obolibrary.org/obo/RO_0004018	is basis for realizable		
http://purl.obolibrary.org/obo/RO_0004025	disease causes dysfunction of	http://purl.obolibrary.org/obo/RO_0004023	causal relationship with disease as subject		
http://purl.obolibrary.org/obo/RO_0002506	causal relation between entities	http://purl.obolibrary.org/obo/RO_0002410	causally related to		
http://purl.obolibrary.org/obo/RO_0004000	condition has genetic basis in	http://purl.obolibrary.org/obo/RO_0002410	causally related to		
http://purl.obolibrary.org/obo/RO_0004017	realizable has basis in	http://purl.obolibrary.org/obo/RO_0002410	causally related to		
http://purl.obolibrary.org/obo/RO_0004018	is basis for realizable	http://purl.obolibrary.org/obo/RO_0002410	causally related to		
http://purl.obolibrary.org/obo/RO_0004023	causal relationship with disease as subject	http://purl.obolibrary.org/obo/RO_0040035	disease relationship		
http://purl.obolibrary.org/obo/RO_0004046	causally upstream of or within, negative effect	http://purl.obolibrary.org/obo/RO_0002418	causally upstream of or within		
http://purl.obolibrary.org/obo/RO_0004047	causally upstream of or within, positive effect	http://purl.obolibrary.org/obo/RO_0002418	causally upstream of or within		
http://purl.obolibrary.org/obo/MONDO_0100333	disease caused by reactivation of latent infectious agent	http://purl.obolibrary.org/obo/RO_0014001	disease has infectious agent		
http://purl.obolibrary.org/obo/MONDO_0100332	disease has primary infectious agent	http://purl.obolibrary.org/obo/RO_0014001	disease has infectious agent		
http://purl.obolibrary.org/obo/RO_0002344	results in transport to from or in	http://purl.obolibrary.org/obo/RO_0002337	related via localization to		
http://purl.obolibrary.org/obo/RO_0002320	evolutionarily related to				A relationship that holds via some environmental process
http://purl.obolibrary.org/obo/RO_0002324	developmentally related to				A relationship that holds between entities participating in some developmental process (GO:0032502)
http://purl.obolibrary.org/obo/RO_0015004	has characterizing marker set				A relation that applies between a cell type and a set of markers that can be used to uniquely identify that cell type.
http://purl.obolibrary.org/obo/BFO_0000055	realizes				Paraphrase of elucidation: a relation between a process and a realizable entity, where there is some material entity that is bearer of the realizable entity and participates in the process, and the realizable entity comes to be realized in the course of the process
http://purl.obolibrary.org/obo/BFO_0000067	contains process				[copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t
http://purl.obolibrary.org/obo/RO_0000053	has characteristic				Inverse of characteristic_of
http://purl.obolibrary.org/obo/RO_0000056	participates in				a relation between a continuant and a process, in which the continuant is somehow involved in the process
http://purl.obolibrary.org/obo/RO_0000057	has participant				a relation between a process and a continuant, in which the continuant is somehow involved in the process
http://purl.obolibrary.org/obo/RO_0001000	derives from				a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity
http://purl.obolibrary.org/obo/RO_0001001	derives into				a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity
http://purl.obolibrary.org/obo/RO_0001015	location of				a relation between two independent continuants, the location and the target, in which the target is entirely within the location
http://purl.obolibrary.org/obo/RO_0009001	has substance added				"has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time.
http://purl.obolibrary.org/obo/RO_0017001	device utilizes material				X device utilizes material Y means X and Y are material entities, and X is capable of some process P that has input Y.
http://purl.obolibrary.org/obo/RO_0001025	located in				a relation between two independent continuants, the target and the location, in which the target is entirely within the location
http://purl.obolibrary.org/obo/RO_0003000	produces				a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix.
http://purl.obolibrary.org/obo/RO_0003001	produced by				a produced_by b iff some process that occurs_in b has_output a.
http://purl.obolibrary.org/obo/MAXO_0000864	therapeutic uses				Uses of chemicals which affect the course of conditions, diseases, syndromes or pathology to benefit the health of an individual.
http://purl.obolibrary.org/obo/RO_0002573	has modifier				A relation that holds between an attribute or a qualifier and another attribute.
http://purl.obolibrary.org/obo/BFO_0000066	occurs in				b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t
http://purl.obolibrary.org/obo/RO_0002323	mereotopologically related to				A mereological relationship or a topological relationship
http://purl.obolibrary.org/obo/RO_0002328	functionally related to				A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities.
http://purl.obolibrary.org/obo/ENVO_01001307	partially_surrounded_by				x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies  a non-trivial proportion of the outermost boundary of x
http://purl.obolibrary.org/obo/RO_0002321	ecologically related to				A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297)
http://purl.obolibrary.org/obo/RO_0002134	innervates				Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input.
T innervates some R
Expands_to: T has_fasciculating_neuron_projection that synapse_in some R.
http://purl.obolibrary.org/obo/RO_0002005	innervated by				relation between an anatomical structure and a neuron projection bundle that has synaptic terminals in the structure.
http://purl.obolibrary.org/obo/RO_0002479	has part that occurs in				p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c.
http://purl.obolibrary.org/obo/RO_0002201	phenotype of				inverse of has phenotype
http://purl.obolibrary.org/obo/RO_0002337	related via localization to				A relationship that holds via some process of localization
http://purl.obolibrary.org/obo/RO_0040035	disease relationship				This relation groups  relations between diseases and any other kind of entity.
http://purl.obolibrary.org/obo/ENVO_01003004	derives from part of				A relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist through the separation or transformation of a part of the old entity, and the new entity inherits a significant portion of the matter belonging to that part of the old entity.
http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of	disease_has_basis_in_development_of				
http://purl.obolibrary.org/obo/mondo#predisposes_towards	predisposes towards				
http://purl.obolibrary.org/obo/BFO_0000056	participates in at some time				
http://purl.obolibrary.org/obo/NCIT_R163	Procedure_Has_Target_Anatomy				
http://purl.obolibrary.org/obo/NCIT_R81	Anatomic_Structure_Has_Location				
http://purl.obolibrary.org/obo/BFO_0000054	realized in				
http://purl.obolibrary.org/obo/BFO_0000163	material basis of at all times				
http://purl.obolibrary.org/obo/mondo#disease_shares_features_of	disease shares features of				
http://purl.obolibrary.org/obo/mondo#has_onset	has onset				
http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease	part of progression of disease				
http://purl.obolibrary.org/obo/RO_0016001	has phenotype or disease				
http://purl.obolibrary.org/obo/BFO_0000117	has occurrent part				
http://purl.obolibrary.org/obo/RO_0002464	helper property (not for use in curation)				
http://purl.obolibrary.org/obo/RO_0002487	relation between physical entity and a process or stage				
http://purl.obolibrary.org/obo/NCIT_R82	Anatomic_Structure_Is_Physical_Part_Of				
http://purl.obolibrary.org/obo/CL_4030045	lacks_part				
http://purl.obolibrary.org/obo/RO_0002222	temporally related to				
http://purl.obolibrary.org/obo/RO_0015006	different in magnitude relative to				
http://purl.obolibrary.org/obo/CL_4030044	has_not_completed				
http://purl.obolibrary.org/obo/CL_4030046	lacks_plasma_membrane_part				
http://purl.obolibrary.org/obo/mondo#has_onset_before	has_onset_before				
http://purl.obolibrary.org/obo/mondo#has_onset_during_or_after	has_onset_during_or_after				
http://purl.obolibrary.org/obo/RO_0018030	chemical relationship				
http://purl.obolibrary.org/obo/RO_0002502	depends on				
http://purl.obolibrary.org/obo/FOODON_00001301	has food substance analog				
http://purl.obolibrary.org/obo/RO_0015011	has cross section				
http://purl.obolibrary.org/obo/RO_0015012	reciprocal of				
http://purl.obolibrary.org/obo/BFO_0000132	part of occurrent				
http://purl.obolibrary.org/obo/BFO_0000167	has participant at all times				
http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of	disease has basis in accumulation of				
http://purl.obolibrary.org/obo/mondo#disease_responds_to	disease responds to				
http://purl.obolibrary.org/obo/mondo#disease_triggers	disease triggers				
http://purl.obolibrary.org/obo/RO_0002410	causally related to